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pmc-6475530-2 | The second case is of a 71-year-old African American man, who presented following an episode of agitation and combativeness in the community. The patient had a late onset psychiatric history starting at the age of 57 with a diagnosis of schizophrenia. He was found to demonstrate symptoms of pressured speech, loose association, paranoid delusions, grandiose delusions, and lability of mood. He was very restless during the interview and paced around multiple times as he could not sit still. He also demonstrated constant oral movements initially thought to be responding to internal stimuli. However, he denied auditory hallucinations and stated he could not control his mouth movements. A mental status examination (Montreal Cognitive Assessment) revealed a score of 22/30 with significant deficits in memory and executive control. This was consistent with his psychiatric evaluation which revealed significant confabulation in his history. The patient was started on haloperidol 2 mg orally twice daily and risperidone 0.5mg orally twice daily for his psychotic symptoms. The patient reports he has been noncompliant with medications previously. On systemic review, the patients CBC was within normal limits and he had a negative toxicology screen. The patients BMP had abnormal glucose values of 172 mg/dl and vitamin D level of 6.4ng/dl. An initial CT scan at the time of first diagnosis noted basal ganglia calcifications. A repeat CT scan of the brain was done (shown in ) and showed small bilateral basal ganglia calcifications, consistent with the image findings during his first episode of psychotic disturbance.
The patient showed some improvement in lability with medication compliance but his cognitive impairment, paranoid delusions, and grandiose delusions did not significantly improve. His extrapyramidal symptoms were not amenable to pharmacological interventions of anticholinergic benztropine. |
pmc-6475530-3 | The third case reported is a 69-year-old English/Creole speaking Haitian female. Her initial admission was for an acute episode of mixed mood symptoms and psychotic symptoms at the age of 61. The patient reported constant restlessness with inner anxiety and preoccupation with delusions of control. She had a past history of treatment for chronic progressive paranoid delusions, cognitive dysfunction, and disorganized thought believed to be due to schizophrenia that responded poorly to treatment. At the time of her initial admission to our clinic, the diagnosis was revised to schizoaffective disorder considering the mood disturbances. A change in medications from risperidone 3 mg orally twice daily to fluphenazine 5 mg orally twice daily was also done. She showed no improvement in her psychosis and affective symptoms. At the time of her second admission, the patient was brought in by husband on account of bizarre behavior and disorganized thought in the context of medication noncompliance. Her symptoms had evolved to include visual hallucinations of Buddha, visual hallucinations of demons, and perceptual distortions of the floor. She endorses bizarre delusions stating there is a demon inside of her and that an “agent” took the place of her husband. She also exhibited depressive symptoms with worsening restlessness and cognitive functioning. Urine toxicology was negative on admission, with full blood count and metabolic panel within normal limits. Risperdal 2 mg orally twice daily was continued for psychosis. Paliperidone 156 mg intramuscularly one-time depot shot was added, with a second dose five days later of 117 mg intramuscularly one time. She continued to endorse visual hallucinations of “the head of the devil” that “moves like a shadow”. Other notable findings were a Montreal Cognitive Assessment score of 22/30 with deficits in memory and executive functioning. Given the refractory nature of her disease and onset of new symptoms specifically of a visual nature, a head CT without contrast was ordered to rule out organic pathology. The images showed small bilateral basal ganglia calcifications, in addition to mild to moderate bilateral periventricular and deep white matter low attenuation suggestive for chronic small vessel ischemic disease ().
On day 9 of admission, patient remained internally preoccupied with a disorganized thought process. Throughout the following week, she continued to hear voices of “the devil” with beliefs that the “evil spirits attack me and my husband”. Haloperidol 5 mg orally twice daily was added for treatment of psychosis, and no side effects of the medications were reported by the patient. Her antipsychotic regimen of fluphenazine 5 mg orally twice daily that was eventually increased to 7.5 mg orally twice daily, as delusions of persecution with auditory and visual hallucinations, continued to be present.
A differential diagnosis of psychosis due to a neurological condition was added, with possible role of basal ganglia injury considered in light of the visual hallucinations, akathisia symptoms, and cognitive dysfunction. The patient was treated symptomatically with fluphenazine Hcl (Prolixin) 5 mg orally twice daily, hydroxyzine Hcl 10 mg orally twice daily, and benztropine 1 mg twice daily. Although her visual hallucinations and delusions did not resolve significantly with medications, an augmentation with psychoeducation, supportive therapy, and cognitive behavior therapy helped the patient cope with her symptoms. |
pmc-6475531-1 | This is the case of a 53-year-old Japanese male with schizophrenia who had been hospitalized at Takano Hospital from the age of 29. Haloperidol was continuously prescribed, and he was mentally stable before the disaster. His parents died during his hospitalization, and he did not have any social or financial support from other family members, which was one reason for his long-term hospitalization. This type of long-term hospitalization of psychiatric patients is relatively common in Japan []. His right eyesight and hearing were impaired. He had chronic constipation and took purgative medicines, yet no other abnormalities were noted in terms of his physical condition. Although he maintained positive relationships with the hospital staff, few people regularly visited him, and he had scarce contact with the outside world.
From March 11, 2011, the day of the earthquake and tsunami, to March 19, 2011, the staff at Takano Hospital provided consistent care to the patient, and his mental and physical condition did not significantly deteriorate despite the chaotic postdisaster situation. On March 19, 2011, the number of staff who remained at the hospital dropped to 13, compared to the predisaster baseline of 88. Following the hospital director's decision to evacuate relatively stable patients, the patient in question was transferred to Hospital A (), which specializes in psychiatric care, in Saitama Prefecture, 250 km away from Takano Hospital, together with 36 other patients on a microbus. Although a doctor, nurses, and hospital clerks accompanied the patients during this bus ride, some patients developed dehydration because of limited water intake and long hours of driving. (There was no specific information available about how our patient coped with the bus ride.) After the transfer, the staff of Takano Hospital handed over each patient's paper-based chart to the health workers at Hospital A. Although it is common for health workers in Japan to write notes summarizing patients' conditions and treatments to hand over to new facilities upon patient transfer, in the present case, the Takano Hospital staff were not able to write summary notes owing to the increased workload and decreased manpower after the disaster. After admission to Hospital A, although no specific disease development was noted and the patient did not complain of symptoms or ask for help, his general condition progressively worsened, and he needed increasingly more assistance in all aspects of daily living (i.e., waking, eating, excretion, and bathing) from the staff. On April 27, 2011, the staff found that he had a bloody stool, and he was transferred to Hospital B (), a tertiary center in Tokyo, for endoscopic examinations and intensive care. The staff at Hospital A summarized his condition and treatment in their facility and handed over this document to Hospital B. All purgative medicines were stopped at Hospital B, and esophagogastroduodenoscopy (EGD) and colonoscopy (CS) were conducted on April 28 and May 9, 2011, respectively, yet they failed to detect any abnormalities. Although his bloody stools spontaneously stopped while at Hospital B, he developed ileus due to severe constipation and progressively weakened and lost independence. His purgative medicines were not resumed. He was transferred back to Takano Hospital on May 11, 2011.
He was completely bedridden when readmitted to Takano Hospital. Although his mental condition was reported to be stable throughout the evacuation period, it had become more difficult for the staff at Takano Hospital to communicate with him. Once his meals were stopped owing to his ileus, his abdominal condition began to improve. Health workers resumed his oral intake of meals on May 24, 2011, yet his appetite was not completely restored. He developed a fever on June 30, and on July 1, chest computed tomography revealed aspiration pneumonia and pleural effusion. Although his pneumonia was treated with antibiotics, his condition consistently deteriorated, and he died on August 16, 2011, at the age of 53. |
pmc-6475533-1 | A 28-year-old Hispanic male painter with no past medical history presented to the emergency department with progressively worsening bloody diarrhea and diffuse myalgias mainly localized to bilateral lower extremities for the last three weeks. He denied any recent travel, sick contacts, or taking any new medications including antibiotics. He denies any change in his diet. He was not on any medications including over-the-counter medication at the time of admission. The patient reported throat discomfort few days prior to admission and was presumptively diagnosed with Streptococcal sore throat by his primary care physician. He received a 10-day course of amoxicillin without benefit.
His admission complete blood count (CBC) revealed a white cell count of 17,600 mm3 and hemoglobin of 9.7 g/dl, decreased to 8.9 g/dl over the next 3 days. Other laboratory values revealed a sedimentation rate of 114 mm/hr and CRP 33.59 mg/dL. Liver function tests showed elevated alkaline phosphatase at 183 IU/l and AST 145 IU/l. CPK was elevated 1433 IU/l. Basic metabolic panel was unremarkable except potassium low at 2.7 mmol/l. Hepatitis panel, HIV serology, serum coccidioidomycosis, urine gonorrhea, and chlamydia PCR were all negative.
Stool culture was negative for Escherichia coli, Salmonella, Shigella, parasites, and Clostridium difficile by PCR. Blood cultures were negative.
Patient had an echocardiogram during the hospitalization which was reported as normal. He had left lower extremity swelling and US venous Doppler of left lower extremity was negative for deep vein thrombosis. He had a CT Abdomen and pelvis with contrast which was normal.
Gastroenterologist was consulted, who did colonoscopy, and the patient was found to have diffuse colitis from cecum all the way to the rectum, without skip lesions. Terminal ileum was normal. Biopsies of the colon showed marked crypt architectural irregularity with multiple crypt abscess. The lamina propria showed mixed inflammatory cells with prominence of plasma cells, neutrophils, and lymphoid aggregates with histologic features consistent with ulcerative colitis. Granulomas were not identified.
During the course of his hospitalization, he developed fever with temperature of 101.8F. He was started on IV fluids with 0.9% sodium chloride, mesalamine, and prednisone taper which dramatically improved his symptoms. His elevated Creatine phosphokinase (CPK) levels were thought to be secondary to rhabdomyolysis from hypokalemia. He was discharged to be followed by primary care physician and his disease was in remission for one year.
He presents to emergency department one year later with worsening bilateral lower extremity pain and difficulty ambulating. He denies any flare up of his UC and is on mesalamine. His CPK was elevated at 9455 IU/L, with abnormal liver function. Patient was febrile with white count of 25,300 mm3. He was hydrated aggressively with 0.9% sodium chloride. He continued to have increasing pain localized to the left thigh, left calf, and the inner right thigh. MRI of lower extremities with and without contrast showed numerous intramuscular abscesses in the left thigh, extensive infiltration of the muscles in all compartments of the left thigh with subcutaneous edema, and fewer intramuscular abscesses in the right thigh as shown in Figures and . No periosteal reaction was identified. Infectious disease specialist was consulted and he was started on empiric antibiotics. Prednisone was added after initial cultures which were negative. His antibiotics were discontinued. His symptoms improved with above management and was discharged on prednisone taper.
Left lower leg muscle biopsy showed fragments of myonecrosis with an acute inflammatory exudate as shown in Figures and . Acid-Fast Bacillus smear, gram stain, and pan cultures were negative. Immunohistochemical staining and metabolic assays on muscle biopsy were normal. Extensive autoimmune serologies including myositis antibody panel were negative except positive ANA of 1:80.
He had two more hospitalizations with similar presentation involving lower extremities in the next 5 months managed with tapering prednisone course. He has repeat MRIs of his lower extremities with repeat muscle biopsy consistent with similar findings. His UC was under control with mesalamine during all these episodes. He was diagnosed with inflammatory myositis from his underlying dormant UC. Methotrexate was added to mesalamine along with prednisone taper. His prednisone was stopped in 2 months. His symptoms resolved and his mesalamine was tapered off in 8 months. He remained in remission both from myositis and UC for last 12 months on methotrexate 20mg per week, tolerating well without any side effects. |
pmc-6475540-1 | A 50-year-old female presented in July 2007 to a peripheral general hospital with progressively enlarging mass in the anterior abdominal wall of one-year duration. On physical examination, she was well built with normal vital signs. A 7 x 6 cm firm irregular subcutaneous mass was felt in the right lower para-umbilical area of the anterior abdominal wall. On palpation, the abdomen was soft and lax with no intra-abdominal masses. There were no palpable lymph nodes. Her cardiac and respiratory examinations were unremarkable. Computerized Tomography (CT) scan of the abdomen revealed a mass within the abdominal wall. Her laboratory investigations were within normal limits. A plain chest X-ray was unremarkable.
Wide local excision with safety margins of the tumor was done. The postoperative period was uneventful, and she was discharged on the second postoperative day in a satisfactory condition.
Gross examination of the specimen showed an ellipse of skin that measured 13 x 10 cm with subcutaneous fatty tissue measuring 11 cm in thickness. On cut section, a well-defined nonencapsulated grayish yellow mass measuring 7 x 6 cm with foci of necrosis was seen. No skin infiltration or abdominal skeletal muscle involvement was noted.
Microscopic examination revealed well-defined but nonencapsulated subcutaneous mesenchymal neoplasm composed of irregular islands of large cells with mostly round to oval pleomorphic vesicular nuclei, with markedly granular cytoplasm, and several large eosinophilic globules (). The nuclear cytoplasmic ratio was variable, with several cells having large nuclei. The tumor nests were surrounded by bands of fibrous connective tissue ().
Many foci of tumor necrosis and scattered mitotic figures, 4 per 10 HPF at a magnification of 200, were identified (Figures and ). Margins of resection were free of tumor.
Immunohistochemical stains show the tumor cells to be strongly positive for vimentin, S100 and CD68 (Figures , , and ). Stains for cytokeratin (CK), smooth muscle actin (SMA), desmin, and myogenin were all negative. Ki-67 proliferative index was 3-5% (). PAS stain highlighted the granules and the eosinophilic globules within the cytoplasm of tumor cells.
The patient was referred in September 2007 to the Oncology Clinic at our hospital for regular follow-up. A chest CT done on May 2008 showed small right lung nodules measuring 0.48 cm of uncertain significance. In April 2010, a follow-up of her chest CT showed bilateral multiple lung nodules; the largest was in the right upper lobe measuring 1.5 x 1 cm. Pelvic CT on February 2011 revealed a large right inguinal mass measuring 3.2 x 2.1 cm. Palliative chemotherapy was planned for the patient. She was started on doxorubicin and ifosfamide for 6 cycles; the last cycle was in October 2011 and then she refused to continue treatment.
In September 2012, FNAC of the inguinal lymph node showed numerous clusters and single cells with abundant granular cytoplasm and large pleomorphic nuclei.
In December of 2015 she was started on docetaxel single agent for 6 cycles; the last cycle was completed by April 2016. In January 2018, her last follow-up chest CT reveled an increase in the size of all metastatic nodules. The largest nodule was in the right upper lobe and measured up to 5.2 x 4.9 cm. It had increased in size since July 2017 when it measured at that time 4.4 x 4.3 cm (). In addition, the inguinal lymph node increased in size up to 8.24 x 7.89 cm (). The patient is still alive 11 years after her initial surgery and is followed up at the Oncology Clinic. |
pmc-6475546-1 | We present a case of a 25-year-old primigravida who presented at 19 weeks and 5 days of gestation for an anatomy scan. She had declined genetic screening. An exophytic complex mass with cystic and solid components consistent with that of a sacrococcygeal teratoma (SCT) was found in the sacral region (Figures and ). The spine and brain anatomy was otherwise unremarkable. Pyelectasis was also visualized. No other abnormalities were found.
After genetic counseling, the patient opted to have cell-free fetal DNA screening that was positive for Trisomy 13. Amniocentesis was performed to confirm the diagnosis. The karyotype demonstrated an abnormality of chromosome 13, including duplication. Microarray demonstrated a complex structural abnormality of chromosome 13 with large regions of copy number gain (13q11q22.2 size 56.2 Mb duplication and 13q32.3q34 size 15.5 Mb duplication). Alpha fetal protein from the amniotic fluid was normal (0.61 MoM). |
pmc-6475548-1 | A 69-year-old Saudi man with diabetes mellitus was admitted to the Neurology Department with an unremitting headache lasting 5 days, episodic confusion, and visual disturbances. According to his family, the headache started gradually over the left side of his head and then became holocephalic and moderate to severe in intensity. The patient reported feelings of nausea and 2 episodes of vomiting. Moreover, his family stated the patient was often seen “bumping” into surrounding objects while ambulating. The patient reported experiencing some visual disturbance during this period. The patient's family felt he appeared confused at times and was not responding to his surroundings. He had no clear history of seizure, according to the family, and his past medical history was unremarkable apart from diabetes. He had sustained a minor head trauma 3 years prior with no concussion; however, his scan was reported to have shown “scattered areas of bleeding” in his brain. He otherwise maintained a healthy life and never required a hospital visit for any medical issues. His family reported the patient had normal cognitive function, especially as someone who ran his own business.
The patient was lethargic upon arrival to the accident and emergency department. Given the apparent risk of airway obstruction, the emergency physician intubated the patient. On general examination, we found no facial phakomas. While the patient was sedated, we found tonic eye deviation with nystagmoid-like eye movement and subtle myoclonic jerks of the distal limb suggestive of subclinical seizures. He was given an intravenous (IV) loading dose of phenytoin in addition to a midazolam infusion. Despite this, he sustained several clinical seizures in the subsequent days. Therefore, he required further titration of midazolam infusion (up to 14 mg/hr) and IV levetiracetam was added to optimize the antiepileptic coverage. His electroencephalogram was obtained postictal. His brain MRI was obtained 1 day following suspected subclinical seizures. Laboratory investigations showed peripehral blood cell count, haemoglobin, renal and liver function within reference range, and his blood glucose was elevated (14.7 mmol/L/264mg/dl).
Moreover, the results of his thyroid function test and his parathyroid hormone and serum vitamin B12 levels were normal. His serum folate level was not available. The screening tests for Hepatitis B antigen, Hepatitis C virus, and human immunodeficiency virus antigens and antibodies were all negative. His anti-TTG immunoglobulin A (IgA) titre was high at 35 U (reference range is up to 20 U), and the screen for antiendomysial antibody was negative, and his anti-Gliadin IgA antibody results were within reference range. Cerebrospinal fluid (CSF) study showed a WBC of 1, red blood cell count of 1, protein level of 36mg/dL, and a glucose level of 7.6mmol/L. The results of the CSF tuberculosis and herpes simplex virus 1 and 2 polymerase chain reaction were negative. We performed a duodenal endoscopic biopsy, but the specimen was not prepared properly; therefore, histopathological examination was suboptimal. We did note, however, increased intraepithelial lymphocytes with normal villous architecture.
The computed tomography (CT) of the patient's brain showed bilateral scattered corticosubcortical parietooccipitotemporal calcification with no oedema or mass effect (). The brain MRI with and without contrast showed diffusion-weighted imaging (DWI) restriction over bilateral occipital cortex (more so over the left side) in a gyriform pattern () with concordant area of apparent diffusion coefficient (ADC) hypointensity (). Susceptibility weighted magnetic resonance sequences (susceptibility weighted imaging [SWI], susceptibility weighted angiography [SWAN]) demonstrated hyperintensity corresponding to the area of DWI restriction (). T1-weighted imaging with contrast showed no contrast uptake (), and we saw no oedema or mass effect. We found no cortical atrophy or any deep cerebral vein enlargement. A second brain CT after 1 month () showed no interval change compared to the initial CT and no evidence of residual changes observed in MRI (DWI, ADC, and SWI).
Bilateral cortical calcification has a distinct set of mimickers, and Sturge–Weber syndrome (SWS) is first among the possible differentials. Our patient's brain CT may indeed look identical to SWS. However, it is the constellation of clinical and radiological features that differentiate the two conditions. The important clinically distinguishing feature of SWS is our patient's normal cognition. Psychomotor retardation is seen in 50% of SWS cases [], and our patient lacked facial nevus which is prevalent in most SWS cases (except SWS Roach classification type 2) []. Our patient also had no ocular disease, a presentation found in 77% of SWS cases. Radiologically, SWS has tram line or gyriform-only cortical calcification (and not subcortical, as in our patient). Bilateral calcification (as seen in our patient) occurs in only 25% of SWS patients []. Other radiological findings of SWS not seen in our patient are ipsilateral choroid plexus hypertrophy [], enlarged transcortical (medullary) veins [], ipsilateral cortical atrophy [], enlargement of the ipsilateral ventricle, loss of volume of the ipsilateral cranial cavity [], and pial enhancing angiomatous malformation (usually ipsilateral to the facial angioma). Therefore, many classic SWS features were not identified in our patient, distinguishing his condition from SWS.
Other conditions known to cause cortical calcification in a similar pattern are, namely, congenital folate malabsorption or the adverse effects associated with methotrexate and antifolate agents. There was no mention of the use of either of these agents. Congenital folate malabsorption would have an associated life-long history of symptoms of malabsorption [] which is not apparent in our patient. Cortical laminar necrosis could account for such radiological presentation. However, this entity is conventionally thought to be a sequela of a remote traumatic brain injury, anoxic-ischaemic injury, or a metabolic insult that is not present in this patient's past history. Moreover, characteristically, cortical laminar necrosis has T1-weighted gyriform hyperintensity in MRI which was not noted in this patient. Although each of these conditions gives rise to calcified shadows in brain imaging, none are anti-TTG IgA-positive which is specific for the diagnosis of CD.
Antiepileptic treatment with phenytoin and levetiracetam was commenced immediately upon the realisation that the patient has seizures. With the diagnosis of probable CEC, he was started on a strict gluten-free diet.
The patient recovered remarkably and regularly submits to follow-up examinations at our neurology clinic. At his last visit (9 months from his presentation), we found no residual neurological deficit other than mild homonymous hemianopia. Currently, he is fully active, self-sufficient, and has not sustained any seizure for the past 9 months. |
pmc-6475551-1 | A 62-year-old woman came to a clinic with a worsening headache for the past 3 days. The pain was felt continuously, such as being pressed on the back of the head, was not pulsatile, and was of moderate intensity. Complaints of nausea, vomiting, decreased consciousness, visual disturbances, slurred speech, or body weaknesses were denied. A history of head trauma was also denied. The patient said that such complaint was often experienced during high blood pressure. The patient was diagnosed with hypertension 10 years ago. She had been given antihypertensive drugs but did not consume them routinely. Her highest blood pressure was 180 mmHg with an average of 150–160 mmHg. She usually visits the clinic and takes her medication only when complaints are present. She does not regularly take her medication because she often forgets and feels no symptoms. In physical examination, her blood pressure was 150/100 mmHg; other vital signs were within normal limits. Visual Analogue Scale (VAS) was 6–7 at the occiput region, with no tenderness nor inflammation. Other physical examinations were within normal limits. |
pmc-6475553-1 | A 72-year-old woman presented with a two-year history of a light brown pigmented lesion located on the lateral segment of her right inferior eyelid. She had no history of nevi, rashes, or scaling of the area. The patient had a past medical history significant for a basal cell carcinoma, melasma, and numerous solar lentigines of the face and neck. She admitted to significant sun exposure and tanning in the past but denied any family history of skin cancer. Three months earlier, she had received laser therapy to the face and neck for skin rejuvenation, using the fractional resurfacing laser at a wavelength of 1,550 nm. Her only reaction to laser therapy was slight erythema and mild swelling. Otherwise, she healed well.
On examination, the lesion was a flat, well-circumscribed macule, measuring 3 mm x 2 mm, colored tan to dark brown involving the lateral segment of the right inferior eyelid (). It appeared similar to many other lentigines on the patient's sun-exposed areas and was clinically correlated to be a solar lentigo. Due to the low clinical suspicion for malignant lesions and sensitive area, biopsy was not obtained. The patient sought cosmetic treatment of the right inferior eyelid lesion and the 1,064 nm QS Nd:YAG laser was used, pulse durations were not recorded.
Three months after targeted laser treatment of the right inferior eyelid patch, the patient returned complaining of recurrence of the lesion, which appeared to have grown to be a 4 mm x 2 mm asymmetric macule colored tan to dark brown to black (). A shave biopsy was taken and returned positive for atypical lentiginous and nested melanocytic proliferation with severe atypia, extending to the lateral margin. The lesion was subsequently excised and final pathology was reported as a desmoplastic melanoma, Clark's level IV, Breslow's thickness 2.5 mm with negative margins. Subsequent follow-up appointments at 2 months, 3 months, 6 months, and 8 months were all negative for clinical recurrence. |
pmc-6475561-1 | A 33-year-old 78 kg, 155 cm, primigravida at 32-week gestation presented to labor and delivery complaining of severe epigastric chest pain. The patient had been seen in clinic prior to admission for lower extremity edema and headache and was diagnosed with mild preeclampsia. Over the two days prior to admission, she reported shortness of breath and worsening oliguria despite adequate oral intake. Initially, her epigastric pain was thought to be gastroesophageal reflux disorder (GERD) which now worsened to a constant 10/10 pain mostly confined to the right upper abdominal quadrant. Initial laboratory results at 03:52 were unremarkable. More than 3 hours later at 07:21, the platelet count went from 195 K/uL to “unable to perform count, platelets clumped on slide Aspartate aminotransferase (AST) increased from 183 u/L to 3180 u/L, and Alanine aminotransferase (ALT) increased from 221 u/L to 3495 u/L (an increase more than 15x admission values). Because of her rapidly worsening clinical picture, the decision was made to proceed with an urgent cesarean delivery. The platelet count was repeated and because of a high clinical suspicion for thrombocytopenia, a thromboelastogram (TEG) was performed, showing features of coagulopathy (). Repeat platelet count at 09:28 was again “unable to perform count, platelets clumped on slide.” Alarmingly, the AST had increased to 4,059 u/L and ALT to 4,000 u/L. Because of her severe coagulopathy, the patient was not determined to be a candidate for neuraxial anesthesia. Her initial blood pressure on admission was 199/100 mm Hg. Oral labetalol and intravenous hydralazine were given for treatment of her high blood pressure. Intravenous magnesium was started for seizure prophylaxis and treatment of HEELP syndrome.
The urgent cesarean section was delayed until Fresh Frozen Plasma (FFP), cryoprecipitate, platelets, and packed red blood cells (pRBCs) could be available and in the operating room so that blood component therapy could be instituted at the time of the procedure. While waiting for the blood products, a second 18-gauge peripheral intravenous catheter was placed as well as a radial arterial line for assessment of her blood pressure on a beat-to-beat basis, for treatment for hemodynamic instability, and to obtain blood for laboratory analysis.
After blood products were made available in the operating room, intravenous cefazolin 2 gm was given for antibiotic prophylaxis. The patient had taken nothing by mouth since midnight. Induction medications included 200 mg of propofol, 100 mcg of fentanyl, and 160 mg of succinylcholine intravenously under rapid sequence intubation with cricoid pressure, and esmolol (30 mg) to attenuate the hypertensive response to laryngoscopy and intubation. The trachea was intubated on the first attempt with a 7.0 endotracheal tube confirmed by auscultation of bilateral breath sounds and by end tidal CO2 monitor detection. Sevoflurane (4%) and 100% oxygen (4 liters) were used for maintenance of anesthesia which was changed to Sevoflurane (1.5%) with 60% nitrous oxide in oxygen after delivery of the baby for prevention of uterine atony. After fetal delivery, 4 mg of midazolam and 2 mg of hydromorphone were administered intravenously over divided doses for additional amnesia and analgesia. Throughout the procedure, the patient's blood pressure trended in the 110-140 mm Hg systolic and 50-80 mm Hg diastolic range.
During hysterotomy, the placenta was noted to be abrupting. A female neonate was delivered weighing 1570 gm with Apgar scores of 5 at 1 minute and 8 at five minutes. Uterine atony was noted with oozing and poor blood clotting. Standard oxytocin dose at West Virginia University Hospital is a 5-unit bolus of oxytocin and 35-unit infusion of oxytocin in 1 liter of lactated ringer's solution. The patient received 250-mcg carboprost intramuscularly and 1000 mcg misoprostol placed intrauterine for treatment of uterine atony. The placental abruption was noted to be small and was able to be controlled upon removal of the placenta. Tranexamic acid (1 gm) was considered but not administered since uterine tone became adequate over several minutes. Intraoperatively, the patient was transfused 2 units of FFP, 2 units of cryoprecipitate, and 1 pack of platelets. Estimated blood loss was over 2.2 liters. After the patient satisfied extubation criteria (train of four > 0.9, sustained head lift for 5-sec, and tidal volume > 5ml/kg), the patient was extubated without complication and able to maintain her airway. The patient recovered in the obstetrical intensive care unit. Bilateral sequential compression devices were placed on both legs and enoxaparin (40 mg SQ QD) was administered for deep venous thromboembolism prophylaxis.
A postoperative TEG was obtained, showing slight improvement in her coagulopathy, consistent with multiorgan system dysfunction (). The patient's postoperative course was complicated by worsening coagulopathy, respiratory, and renal dysfunction. The patient required 5 liters of supplemental oxygen via nasal cannula postoperatively for shortness of breath and hypoxia. On postoperative day (POD) 1, arterial blood gas analysis was consistent with respiratory alkalosis (pH=7.42, PCO2=30.0, Bicarbonate=21.7, and Base Deficit=3.9). A chest x-ray revealed a left pleural effusion. Pulmonology was consulted for assistance managing her respiratory status and recommended discontinuing magnesium therapy and substituting dilantin due to a concern for magnesium worsening her pulmonary edema. Nephrology was consulted for assistance managing her acute kidney injury as her creatinine increased to 4.69 umol/L on POD-3 from a baseline of 0.78 umol/L on admission. Nephrology recommended continuing treatment for hypertension, avoiding Nonsteroidal Anti-inflammatory Drugs (NSAID's), Angiotensin-Converting-Enzyme Inhibitor (ACEI), Angiotensin-Receptor Blocker (ARB), and contrast dye, and continuing fluid restriction, and hemodialysis was not indicated. Hepatic AST/ALT enzymes which peaked at 4059/4000 u/L at 09:28 the day of surgery continued to steadily improve and fell into the normal range upon hospital discharge. The patient's multiorgan system dysfunction steadily improved over several days, and she was discharged home along with her baby in stable condition on POD-8 with a 1-week follow-up for a blood pressure check and a 6-week obstetric postpartum follow-up. |
pmc-6475631-1 | In March 2006, an 18-year-old male attended the Department of Restorative Dentistry at The University Dental Hospital of Manchester. He was missing teeth 11, 31, 32, 41 and 42 (Figs. and ) and was wearing partial acrylic prostheses; he was otherwise fully dentate and disease free.
Medically, the patient, along with his sister, had been diagnosed with XLH at the age of 6 months. He had been taking oral phosphate supplements and calcitriol since childhood and had also undergone multiple surgical procedures to correct bowing of his legs. He was a non-smoker.
The patient had a complex dental history which began in The Department of Paediatric Dentistry at The University Dental Hospital of Manchester at the age of 1 year and culminated in his care being transferred to The Department of Restorative Dentistry on his 16th birthday. During this time, he had undergone the extraction of many his primary dentition due to spontaneous pulpal necrosis, periapical pathology and abscess formation, and he also had teeth 11, 21, 31, 32, 41 and 42 extirpated and dressed with non-setting calcium hydroxide for the same reasons in April–May 2003. Between June 2004 and June 2005, teeth 11, 31, 32, 41 and 42 all fractured unrestorably at gingival level and so were extracted in August 2005 and partial acrylic prostheses provided.
In May 2007, a block graft harvested from the chin was used to augment the lower anterior region, and following 6 months of healing, three fixtures (Astra OsseoSpeed©, Dentsply Implants, Mölndal, Sweden) were placed; 4.0-mm diameter and 15-mm length in the 11 position and 13-mm length in the 31 and 41 positions (Fig. ). Following 3 months for osseointegration, all implants were exposed in a second procedure (Fig. ); however, due to the patient having a very narrow band of keratinised mucosa anterior to the implants in the 31 and 41 positions, which was painful to brush and therefore leading to poor oral hygiene in this area, a connective tissue graft was desired. Unfortunately, the patient had developed denture stomatitis of the palate, and this could not be resolved with hygiene instruction and topical antifungals, so, in May 2008, it was decided to restore the implant in the 11 position with a cement-retained porcelain-fused-to-metal (PFM) restoration (Fig. ), allowing the patient to stop wearing his upper prosthesis and resolution of the stomatitis.
In January 2009, a connective tissue graft was harvested from the palate and used to provide an increased band of attached gingivae buccal to the lower anterior fixtures which were then, 5 months later, restored with a four-unit cement-retained PFM bridge with two single-unit distal cantilevers (Fig. ).
In July 2009, the patient presented with a draining sinus adjacent to 21 which could not be resolved with debridement and dressing of the root canal system and so was extracted, and the patient again was given a partial acrylic prosthesis. Ten months later, a 4.0-mm-diameter, 13-mm-length fixture (Astra OsseoSpeed©, Dentsply Implants, Mölndal, Sweden) was placed with simultaneous particulate xenograft (Geistlich BioOss©, Geistlich, Wolhusen, Switzerland) (Figs. and ). Following 5 months of osseointegration, the fixture was exposed and, in February 2012, restored with a cement-retained PFM restoration.
In February 2014, the patient represented with a draining buccal sinus adjacent to 46 and 47, and plain film radiography and a CBCT scan showed root resorption of both teeth. Root canal therapy of 46 was unsuccessful, as was an attempted intentional reimplantation (Fig. ), and therefore, 46 was removed 2 months later and 47 removed 15 months later. In May 2016, a 4.0-mm-diameter, 11-mm-length fixture (Astra OsseoSpeed©, Dentsply Implants, Mölndal, Sweden) was placed into the 46 position and was planned for exposure 4 months later, but due to the superficial position of the fixture, the cover screw became exposed spontaneously (Figs. and ). The fixture was restored with a screw-retained PFM restoration in January 2018.
At most recent follow-up (11, 31 and 41 position fixtures 123 months, 21 position fixture 80 months and 46 position fixture 21 months since placement), there was healthy, non-inflamed peri-implant mucosa (Fig. ), no complications and no significant bone loss compared with baseline (Fig. ). |
pmc-6475667-1 | On May 29, 2016, the patient – a woman of 30 years old, was accepted to the Sechenov University Clinical Hospital No. 1 with occasional pulling pain in left hypochondrium, nausea, and low-grade fever. The examination revealed a cyst in the spleen. The reaction of Kasoni and ELISA for Human Cystic echinococcosis was negative. The diagnosis of NSC was established. On June 13, 2016, the patient was admitted to the Department of Surgery for the surgery. A percutaneous puncture and MWA of the splenic cyst were performed under the control of ultrasound and X-ray fluoroscopy.
At admission: The spleen is of 20 × 10 cm, with the lower pole being palpated in the area of the mesogastrium, of dense consistency, and painless during palpation.
During examination: The blood and urine test results were within normal ranges, except for the erythrocyte sedimentation rate (ESR), which was 29 mm/h. Thrombocytopenia was not detected, with the values of platelets of 315 thousand/μl.
Ultrasonography and computer tomography (CT) of abdominal organs: The spleen is of 20 × 10 cm, with clear, even contours, and homogeneous structure. In the upper pole of the spleen, a cyst is defined with clear smooth contours of 7.5 × 7.5 × 5 cm, uniform content, without septa or additional inclusions (). There were no signs of color Doppler mapping in the walls of the cyst. Conclusion: cyst of the spleen is not excluded.
Previously, spleen surgery had not performed.
During the surgery, a percutaneous puncture and MWA of the splenic cyst were performed under the control of ultrasound and X-ray fluoroscopy. Under intravenous anesthesia (Propofol 150 mg, Phentanylum 0.2 mg), an MWA catheter (MedWaves Incorporated, AveCure®) was inserted percutaneously into the cyst of the spleen's upper pole, accessing via the left mid-axillary line in the 9th intercostal space. In the epigastrium on the left anterior axillary line, a percutaneous puncture of the cyst of the upper pole of the spleen was made using a 18 gauge needle. After removal of the stylet, about 140 ml of a green turbid liquid was evacuated, which was sent for biological and cytological examination. Then, a radiopaque preparation (Urografin® 76% - 20 ml + NaCl 0.9% 120 ml) was injected into the cyst. During X-ray, a neoformation of clear, even contours, and of uniform contrast was determined at the left subphrenic region. No contrast in the abdominal cavity or the vessels of the spleen was detected. MWA of the cysts was performed using a MWA catheter placed in the cavity at the center of the cyst, with the frequency of 902–928 Hz delivered during 5 minutes. The installed 18 G needle allowed the evacuation of the residual high temperature liquid during the MWA. Then, both the catheter and needle were removed.
Biological and cytological examination of the fluid obtained during the surgery revealed the presence of a cylindrical epithelium and the absence of abnormal cells.
The postoperative period was uneventful, and no analgesics required.
The abdominal ultrasound examination performed on day 2 post-surgery, did not reveal the residual cavity of the cyst in the region of the upper pole of the spleen.
The patient was discharged under the supervision of a general practitioner, with recommendations to abstain of physical activity for 3 months, and to perform ultrasound examinations every six months.
Four months post-surgery, on October 22, 2018, the patient underwent the control examination. There were no complaints reported. CT scan of the abdominal cavity in the region of the upper pole, has revealed the residual cavity of the cyst with dimensions of 3 × 1.7 × 1.9 cm (volume 4.8 ml) (). |
pmc-6475719-1 | A 34-year old male was admitted to the emergency department of the Sina hospital, complaining of a persistent abdominal pain in periumbilical area specially located in the central abdominal area, lasted for 3 days. The pain was not associated with nausea, vomiting, or oral intake. The patient did not defecate for 2 days, but had a normal gas passage, and had not experienced similar pain. Only he reported loss of appetite.
On physical examination, the patient was febrile (T: 38.6) and hemodynamically stable. Further physical examination revealed a soft but diffusely tender abdomen while the maximum point tenderness was in the periumbilical area, and rebound tenderness was absent. Patient’s rectal examination was fecal. There were no signs or symptoms of peritonitis.
A complete blood count (CBC) demonstrated a hemoglobin level of 17.5 g/dL, total leukocyte counts of 9300 per microliter with %78.9 of Neutrophils count. His liver enzymes were normal, arterial Blood gas analysis was suggestive of metabolic acidosis.
To detect air under the diaphragm, an upright chest radiograph was performed.
The abdominal Spiral CT Scan with IV and Oral Contrast demonstrated evidences of midgut malrotation with Volvulus without any obstruction, several enlarged mesenteric lymph nodes—the largest one was up to 9 mm—abnormal position of superior mesenteric vein (SMV)—located at the left side of the Superior mesenteric artery (SMA)— abnormal place of duodenojejunal junction (DJJ), and dispositioned 3rd part of the duodenum (D3), located in front of Superior mesenteric artery and vein (). The characteristic whirpool’s sign was clearly seen around superior mesenteric artery ().
According to the probable diagnosis, patient was prepared for an exploratory laparotomy following adequate resuscitation with intravenous fluids and inserting nasogastric tube and folly catheter. Also, prophylactic antibiotics were given prior surgery.
Midline incision above and below the umbilicus was made upon entrance the cecum and appendix were seen at the midline. There were numerous bands between the bowel loops and abdominal wall. Because volvulus is clock wise, we untwisted it counter clock wisely. The intestine was not gangrened, and only was edematous, improved by heat. Then, adhesion bands between cecum, abdominal wall, duodenum and terminal ileum were released to restore normal alignment. Finally, appendectomy was performed to prevent misdiagnosis in future (, ).
The patient was stable postoperatively and had a benign postop course and discharged on the 5th postoperative day. |
pmc-6475964-1 | A 66-year-old Japanese man who had no past medical or medication history complained of gross hematuria and visited a nearby hospital in October 2013. He had no habit of drinking alcohol or smoking tobacco. He was diagnosed as having a right renal tumor and underwent right nephrectomy laparoscopically. The pathological diagnosis was right renal cell carcinoma (RCC), clear cell carcinoma, pT1bN0M0, v1 (Fig. ). One and half years later, lymph node swelling was detected at hepatic portal region and he underwent lymphadenectomy. The pathological diagnosis was a metastasis from RCC. Two years after diagnosis, he was suspected of lung metastases and started treatment with interferon α. Three years later, the multiple lung metastases grew larger and were determined as progression despite interferon α therapy. At this point, he was referred to our hospital in October 2016. There were no abnormalities on physical examination and his vital signs were normal. He started treatment with sunitinib 50 mg/day on a schedule of 4 weeks on treatment and 2 weeks off; however, adverse events including grade 3 thrombocytopenia (platelet count, 49,000/μL), gum swelling, and hoarseness became intolerable 2 weeks after starting sunitinib. Four weeks after cessation of sunitinib 50 mg/day, he was started on a dose of sunitinib 25 mg/day on a schedule of 2 weeks on and 1 week off. Computed tomography (CT) findings in January 2017 revealed that his lung metastases had shrunk; however, he continued to experience the same adverse events. Therefore, the dose of sunitinib was further reduced to 12.5 mg/day on a schedule of 2 weeks on and 1 week off. CT findings in May 2017 revealed new metastases in the pleura, diaphragm, and the right paracolic gutter (Fig. a, b). As a result, the treatment was changed from sunitinib to axitinib and he started treatment with axitinib at 10 mg/day; however, adverse events including gum swelling, dysphonia, hypertension, diarrhea, and thrombocytopenia became intolerable (Fig. ). Two weeks after cessation of the drug, the dose of axitinib was gradually reduced from 6 mg/day to 4 mg/day. CT findings in September 2017 revealed the metastases had diminished in size and lung metastases were maintained at a diminished size (Fig. c, d); however, the adverse events could not be controlled and he discontinued axitinib treatment. His adverse events improved after discontinuation of axitinib; however, CT findings in December 2017 revealed the size of metastases had increased again (Fig. e, f). Consequently, he was started on fourth-line therapy with nivolumab (3 mg/kg every 2 weeks) and did not experience any adverse events. However, after he had received eight cycles of nivolumab, his metastatic lesions had grown, peritoneal dissemination appeared in his pelvic region, and pleural effusion appeared (Fig. g, h), so nivolumab was discontinued. After giving a detailed explanation of treatment options to our patient, he decided to rechallenge with axitinib 4 mg/day. However, adverse events including gum swelling and dysphonia became intolerable. After that, the dose of axitinib was reduced to 2 mg/day, and he experienced relief of adverse symptoms except for hoarseness. CT findings in August 2018 revealed metastases in lungs, pleura, diaphragm, and the right paracolic gutter had diminished in size (Fig. i, j). He has been continuously receiving a low dose of axitinib at 2 mg/day for 10 months with metastases maintained at reduced size. |
pmc-6476000-1 | A 22-year-old woman with a history of low-functioning autism and congenital motor dysfunction presented to the emergency department (ED) at Summa Health – Akron City Hospital (Akron, OH) with numerous cactus spine puncture wounds. Four days prior to presentation she fell into her parents' decorative Opuntia (e.g., “prickly pear”) cactus. The wounds were distributed throughout her torso and upper and lower extremities. There was slight erythema surrounding the embedded spines. While the patient could not cooperate or provide a history because of her nonverbal status, her pain was evident in her moans, cries, and winces as the providers touched the spines during her physical examination.
The patient was morbidly obese with limited ability to ambulate. Her parents and an aide accompanied her to the ED. They reported an extensive history of combative behavior towards healthcare providers. For this reason, conscious sedation with ketamine was initiated prior to spine removal. 4 mg/kg of intramuscular ketamine was administered. Once conscious sedation was achieved, a team of four providers removed the spines using adhesive preoperative hair removal mitts. After fifteen minutes, essentially all of the superficial needles had been removed, with the exception of a few spines that were too deep to be removed with the adhesive gloves. The patient's shirt was removed and disposed of as it too was covered in numerous spines. There was no incidence of hypoxia or emergence reaction following the administration of Ketamine.
Within the next hour, the patient recovered to her baseline mental status and was ambulating throughout the ED with her typical gait. Prior to discharge, she was given an oral dose of 875 mg amoxicillin/25 mg clavulanate (Augmentin) and an intramuscular dose of Tdap (tetanus immunization); her parents were instructed to bring her back to the ED if any fevers, chills, or swelling of the wounds occurred.
The patient was evaluated 2 weeks after the injury and was noted to have some persistent erythema on her arms and anterior thighs. The patient was given a prescription for Augmentin to be taken twice daily for 7 days. No additional spine removal was required.
Upon repeat evaluation at 4 weeks, the patient demonstrated complete resolution of the erythema and no further spine removal was necessary. |
pmc-6476008-1 | BH is a 59-year-old male presented after a high-speed motor vehicle accident. Screening Computed-Tomography (CT) imaging was carried out to exclude any injuries, revealing a L3 fracture and infrarenal aortic dissection. Dedicated CT angiography revealed a 7cm dissection in the infrarenal abdominal aorta extending into the proximal left common iliac artery (CIA) (). The patient was initially managed conservatively with yearly surveillance over three years; however due to severe, uncontrolled hypertension the decision was made to treat. The patient was treated endovascularly using an AFX2 bifurcated AAA endograft sysytem (Endologix, Irvine, CA, USA) (). The procedure went with no complications. At six-month follow-up the stent-graft was patent with no evidence of endoleak. |
pmc-6476008-2 | A 73-year-old male presented with an incidental finding of an IAAD extending to the left CIA on CT angiography (). Due to uncontrolled hypertension the patient was treated endovascularly using the AFX2 bifurcated AAA endograft system. The procedure went without any complications. At 12-month follow-up the stent-graft was patent with no evidence of endoleak. |
pmc-6476008-3 | The case is a 56-year-old male who underwent a CT angiogram as a work-up for prostate surgery. There is an incidental finding of a 3.2cm infrarenal abdominal aortic aneurysm (AAA) with dissection extending distally involving both common iliac arteries (). Due to uncontrolled hypertension the patient was treated endovascularly using the Endologix AFX2 bifurcated AAA endograft system. The procedure went without any complications. At 12-month follow-up the stent-graft was patent with no evidence of endoleak. |
pmc-6476008-4 | The case is a 70-year-old female with an infrarenal aortic dissection and an associated AAA which showed progression at surveillance. CT angiography showed a minor eccentric saccular aneurysm measuring 23mm involving the right anterolateral aspect, extending over a 9mm intimal flap (). Due to uncontrolled hypertension and aneurysm being saccular in nature the patient was treated endovascularly using the Endologix AFX2 bifurcated AAA endograft system. The procedure went without any complications. At 12-month follow-up the stent-graft was patent with no evidence of endoleak. |
pmc-6476008-5 | A 71-year-old female presented with a pulsatile mass in her left groin causing significant discomfort. CT angiography showed a dissection involving the infrarenal abdominal aorta extending from the level of the inferior mesenteric artery into an aneurysmal left common iliac artery (CIA) measuring 29mm x 27mm. The patient was treated with a 24mm x 56mm Zenith® Spiral-Z® AAA Iliac Leg Graft (COOK medical, Bloomington, IN, USA) and deployed into the infrarenal aorta. Kissing iliac stents were deployed to exclude both the dissection at its distal point and the left CIA aneurysm. At 12-month follow-up CT angiography demonstrated exclusion of both the dissection and the left CIA aneurysm. However, CT angiography at 48-month follow-up demonstrated a type 2 endoleak with filling of the false lumen of the dissection in the infrarenal aorta with associated mild aneurysmal dilatation (). The patient remained asymptomatic and no intervention was offered at that stage; however she remains under close routine surveillance. |
pmc-6476009-1 | A 68-year-old female underwent a partial left-sided chest wall resection, with partial removal of the 6th and 7th ribs and of the scapula angle for elastofibroma (). The chest wall defect was reconstructed by using a Mersilene mesh, secured by interrupted pericostal stitches, and covered by a sufficient volume of viable muscles. The postoperative course was uneventful; the radiographic aspect at discharge was normal (). The first symptoms in the form of pains in the region of the incision appeared five months after the operation, and computer tomography (CT) of the thorax showed a lung hernia in the region of the mesh covering the chest wall defect (Figures and ). The patient refused the proposed surgical correction, being only slightly limited in usual daily activities. During the next several months, the symptoms persisted with variable intensity under analgesic therapy, till the moment when pains significantly limited patient's daily activities, 22 months after the operation. The repeated chest CT showed a slight increase in hernia size, with no signs of tumour recurrence (), so that reoperation was planned.
After the excision of the previous skin scar and the incision of the muscular layer, the mesh region was exposed, showing a lung protrusion (4 × 3 cm) along the anterolateral edge of the mesh (). The local situation is schematically presented on . The mesh suture line in the hernia region was completely disrupted, with a small piece of the herniated lung being completely detached from the mesh, the remaining lung surface under the mesh area being fully adherent to the mesh. By careful dissection, the mesh was separated from a firmly adherent lung and removed (). After adhaesiolysis and complete lung liberation, a wedge resection of the afunctional lung tissue of the superior segment of the lingula was done, just in the region of contact with the mesh. After the chest tube insertion, the chest wall defect was reconstructed by suturing a Mersilene mesh in two layers—single pericostal sutures for initial fixation and running suture for additional reinforcement (). A final chest wall stabilization was done by the fixation of two Synthes plates (DePuy Synthes J&J) over the 5th and 6th ribs (). The postoperative course was uneventful. The chest X-ray on discharge, on postoperative day 5, is presented in .
At the last contact with the patient, one year after the operation, the general condition was good, without the need for analgesics. |
pmc-6476010-1 | An 83-year-old Hispanic male with an extensive past medical history including chronic hepatitis C, coccidioidomycosis, ocular myasthenia gravis, and interstitial lung disease presented to the Emergency Department (ED) with a complaint of chronic cough, shortness of breath, upper extremities weakness with diplopia, and dysphagia. The patient reported a daily cough with sputum production since Thanksgiving 2017 and became more severe in the past 3 days. He denied any weakness in his lower extremities and reported that he was able to garden up until 3 months ago when he started having upper extremities weakness. In the ED, the patient's SPO2 was 94%, initial chest X-ray showed no acute pathology, and CT of the chest showed no signs of thymoma or any other lung pathologies. He was admitted to telemetry with a BiPAP for further evaluation. The patient's Video Swallow Study showed severe oropharyngeal dysphagia. We were consulted as the patient had severe dysphagia and a history of ocular myasthenia gravis. However, the patient developed acute respiratory failure and was intubated before an assessment and evaluation can be performed.
Upon review of the patient's medical record, it showed that he was diagnosed with myasthenia gravis in 2017 when he was found to have AChR binding antibodies of 40.70 nmol/L, AChR blocking antibodies of 56%, and AChR modulating antibodies of 54%. He was prescribed pyridostigmine 60mg 1 tablet three times daily as treatment; however, his adherent to treatment regime was questionable; and he has had recurring follow-ups with his primary care physician for ocular myasthenia gravis. The patient's lab result in the ED showed AChR binding antibodies of 276 nmol/L, AChR blocking antibodies of 75%, and AChR modulating antibodies of 91%, all of which displayed a major increase in antibodies compared to his results at time of diagnosis. Due to the patient's history of ocular myasthenia gravis, his current state of severe dysphagia, and acute respiratory failure, we ordered a serum anti-GBS antibody work-up for our patient when he showed signs of improvement from diplopia but his respiratory status remained the same. The results revealed that the patient had GM1 antibodies of 81 units and GD1b antibodies of 52 units, which are serology markers seen in GBS. The patient was started on IVIG and methylprednisolone while continuing with pyridostigmine. Several days later, the patient exhibited significant improvement in respiratory status and clinical signs of improved swallow function, and his diplopia has been resolved. |
pmc-6476011-1 | A 17-year-old woman was referred to the Endocrine Unit of the University Hospital of Pisa for further evaluation of hypercalcemia associated with undetectable/low PTH levels.
Her clinical history was unremarkable except for a previous admission to the local Emergency Unit for renal colic 3 years before; an abdominal ultrasound revealed unilateral kidney stones. On that occasion, the patient was treated with analgesics and hydration and no further investigations were performed. One year later she underwent extracorporeal shockwave lithotripsy for the recurrence of renal colics. At that time, routine blood tests revealed hypercalcemia [12.4 mg/dL; (reference range 8.4-10.2)], hypercalciuria [390 mg/24h, (100-300)], and undetectable PTH (< 4 pg/mL; NV 8-40) and a 25-hydroxyvitamin D [25(OH)D) level of 37.4 ng/mL. The family history was unremarkable with the exception of nephrolithiasis in the sister.
At admission, physical examination was normal, with no evidence of major bone abnormalities. Lab tests confirmed hypercalcemia, hypercalciuria, and low/undetectable PTH levels; bone turnover markers were slightly above the upper limit of adult reference range (). Routine biochemistry was normal. Chest X-ray and abdominal and neck ultrasound were unremarkable. The long lasting hypercalcemia, the negative medical history beyond nephrolithiasis, and the normal imaging studies made unlikely the hypothesis of paraneoplastic hypercalcemia. Further evaluation revealed elevated serum levels of 1,25(OH)2D suggesting vitamin D-dependent hypercalcemia. A granulomatous disease could be ruled out on the basis of normal serum concentration of angiotensin converting enzyme and the absence of specific signs at chest X-rays.
Because of the young age of the patient and the family history of nephrolithiasis, biochemical tests were performed in first-degree relatives. Total and ionized serum calcium, phosphate, PTH, and 1,25(OH)2D levels were in the normal range in both parents, who had a low vitamin D status. Interestingly, in the siblings PTH concentration was in the low-normal range and 1,25(OH)2D at the upper normal limit or slightly elevated (). The latter findings, together with the biochemical profile of the patient, suggested that hypercalcemia might be due to an impairment of the CYP24A1 catabolic pathway. The genetic analysis in the proband was made using High Resolution Melting Analysis (HRMA) [] and further confirmed using gene amplification and sequencing [], revealing a known homozygous PV (c.428_430delAAG, rs777676129, p.Glu143del) in the CYP24A1 gene (). The same heterozygous variant was detected in the parents and the siblings (). The parents excluded consanguinity, even though they came from the same small village.
To complete the biochemical profile of vitamin D metabolites, liquid chromatography tandem mass spectrometry (LC-MS/MS) was run on stored serum samples of all the family members. Serum samples were prepared by immunoextraction and derivatized with 4-[2-(6,7-dimethoxy-4-methyl-3,4-dihydroquinoxalinyl)ehtyl]-1,2,4-triazoline-3,5-dione (DMEQ-TAD), as reported []. We observed that the proband exhibited low 24,25(OH)2D3 (0.42 ng/mL) and elevated 25(OH)D3:24,25(OH)2D3 ratio (118; cutoff >80) which confirmed the diagnosis of impaired CYP24A1 function. A more rigorous chromatographic method[] was also used to assay the same sample (25(OH)D3:24,25(OH)2D3 ratio = 3117; cutoff>140), which also indicated inappropriately low levels of 24,25(OH)2D3 in the proband. The other family members, who present as heterozygous variants, exhibited essentially normal serum 24,25(OH)2D3 concentrations and 25(OH)D3:24,25(OH)2D3 ratios ( and ).
Because of the mild hypercalcemia, we did not advise pharmacologic treatments aimed at modulating 1,25(OH)2D metabolism and we recommended maintenance of adequate hydration and avoidance of unprotected excessive sunlight exposure. Followup evaluation up to 24 months showed that the patient was in an overall stable condition, with serum calcium concentration slightly above the upper normal limit and renal ultrasound showing no recurrent nephrolithiasis.
The patient and the family gave written informed consent for the genetic analysis and the use of their clinical data for scientific purposes, including publication. |
pmc-6476017-1 | A 36-year-old woman presented in 2006 at the department of surgery, Maria Pia Hospital, Turin, for important chronic constipation and abdominal pain. She had a long history of constipation with an average of one evacuation every four days despite continual use of laxatives and had been hospitalized several times before for intestinal partial obstruction. Furthermore, the patient suffered of left hemiparesis with difficulty speaking because of a subarachnoid hemorrhage at one year of age. She was implanted a neurostimulator in the third sacral nerve root, but the device was removed two years later due to its inefficacy. In 2010, she was hospitalized again after another partial obstruction, and loop ileostomy was performed. Despite this, the symptomatology did not improve, and the obstructive episodes continued. Colonic manometry and abdominal X-ray revealed a picture of inertia coli.
On November 2015, during the programmed closing operation of ileostomy, the ileum appeared distended with brownish serosa. Therefore, a decision was taken not to close the ileostomy, and a diagnostic surgical biopsy of the ileum was made. Histologic examination showed an abnormal accumulation of eosinophilic granules in the cytoplasm of smooth muscle cells with disruption of muscular fibers (). The mucosa was normal. The pigment was interpreted as lipofuscin, and a suspicion of BBS was raised.
Blood levels of vitamins A, D, E, and K were dosed, and vitamins D and E were found to be low (0.3 mg/dl and 6 ng/ml, respectively). Antibodies against transglutaminase were negative, and there was no clinical or laboratory suspicion of coeliac disease.
After 8 months of nutritional supplementation, the vitamin values were at the lower limit of the normal range (0.8 mg/dl and 10 ng/ml, respectively), but the patient still suffered of recurrent intestinal functional obstruction. Abdominal X-ray and CT evidenced severe intestinal dilatation (), indicating the persistence of a severe impairment of colonic motility. Surgery appeared to be the best choice, and after multidisciplinary discussion, on April 2017, the patient underwent subtotal colectomy with maintenance of the rectum as a reservoir. The histological examination confirmed the diagnosis of BBS. The postoperative period was uneventful.
19 months after surgery, the patient is still under vitamin nutritional supplementation, and blood levels of vitamins D and E are still at the lowest acceptable limit, but since then, she did not have any other obstructive episode and has normal daily evacuation without the use of laxatives. |
pmc-6476019-1 | A 6-year-old girl with the complaint of vague periodic abdominal pains mainly in the epigastrium and periumbilical region is referred to the children's hospital. There was not any correlation with feeding and almost having discomfort at night times. She had periods of constipation and diarrhea and symptoms of leg pains. She also used to take Propranolol for early morning headaches mostly in the frontal region for 2 years. The patient with a probable diagnosis of Familial Mediterranean Fever (FMF) was referred to the pediatric rheumatology clinic for further surveys when 0.5 milligram daily colchicine was taken without considerable clinical response. She also had both an intussusception experiment and a history of negative appendectomy since she was 2 years old and the initiation of abdominal pain since that time. She was never febrile during abdominal pains. General examination revealed a thin hemodynamically stable girl with no signs of acute abdomen; the weight and the length were 15 kg and 105 cm [body mass index (BMI): 14.5 kg/m2].
She had second admission within previous 15 days with similar complaints. The grey scale and color Doppler abdominal ultrasonography showed normal portal and splenic veins and there were no evidences of thrombosis. Stool calprotectin test was also requested for a probable inflammatory condition in the gastrointestinal tract. However, because of persistent symptoms, abdominal CT angiography was obtained, which revealed a decrease in aortic and superior mesenteric artery and aortomesenteric angle consequently to 5 mm and 14 degrees suggestive for superior mesenteric syndrome along with a gastric and duodenal dilation [].
Another confirmatory spiral CT scan of abdominopelvic region also marked distended stomach and the proximal part of duodenum which in context of CT angiography proposing SMA syndrome. In addition, she was in a malnourished state without adequate evidences supporting an autoimmune condition. Thus, according to persistent symptoms and FTT, we checked serology of the celiac disease, antigliadin, and anti t-transglutaminase antibodies, which showed positive serologic results and were confirmed by pathologic study. Following the final diagnoses of Gluten-sensitive enteropathy, she gradually gained weight and growth indexes improved, and the obstructive symptoms resolved by taking Gluten-free diet in a 6-month regular follow-up period by the pediatrician. |
pmc-6476027-1 | A 74-year-old female with a past medical history of hypertension, diabetes mellitus type 2, CAD status post coronary artery bypass grafting, and ischemic stroke with residual left-sided weakness presented to the emergency department with a one-day history of retrosternal chest pain radiating to her left shoulder. On presentation she was normotensive, and electrocardiogram (EKG) revealed sinus rhythm with a heart rate of 72 beats per minute, left axis deviation, and T wave inversion in leads I and aVL which were unchanged from a prior EKG several months ago. Initial troponin I was negative. Based on her risk factor profile and pretest probability for CAD, she was scheduled for a rest-pharmacological stress MPI test. While at rest, the patient was injected intravenously with 99mTc-tetrofosmin and images were acquired approximately 45-60 minutes later with 180-degree single-photon emission computerized tomography (SPECT). Subsequently, the patient was injected with 0.4 mg of regadenoson over 15-20 seconds while being monitored by12-lead EKG. Approximately 30 seconds after regadenoson injection, the patient was injected with 99mTc-tetrofosmin and 180-degree SPECT images were taken approximately 45 minutes later. The gated SPECT images revealed normal rest and stress tetrofosmin perfusion, as well as a normal left ventricular function. Approximately 120 minutes after regadenoson administration, the patient developed a generalized tonic-clonic seizure that lasted for 3 minutes. On initial assessment, she was hemodynamically stable and not hypoxic. She received 2 mg of lorazepam and 1 g of levetiracetam intravenously, which aborted the seizure. She did not receive aminophylline. On physical examination after she regained consciousness, she was confused and not oriented. Cranial nerves were intact, and motor strength was unchanged from baseline (5/5 at the right upper and lower extremities and 4/5 at the left upper and lower extremities). Initial blood work revealed sodium of 142 mmol/L, potassium 3.8 mmol/L, glucose 5.82 mmol/L, calcium 2.17 mmol/L, and magnesium 0.78 mmol/L. Due to concern for a new cerebrovascular accident in setting of prior history and this acute event, she underwent an emergent brain magnetic resonance imaging (MRI) study which did not reveal any acute changes. She was started on levetiracetam 500 mg orally twice daily. An electroencephalogram (EEG) was performed and revealed no epileptiform abnormalities or epileptogenic foci. Of note, she was not taking any antidepressants such as bupropion or other medications that may lower seizure threshold. She was discharged home 4 days later, with a diagnosis of regadenoson-induced seizure. |
pmc-6476028-1 | A 57-year-old female with a history of hypothyroidism, hyperlipidemia, and glaucoma presented to the interventional pulmonology (IP) clinic for evaluation of lung nodules found incidentally on chest imaging for evaluation of chronic cough. Her dry cough had persisted for 4 months, and computed-tomography (CT) of the chest demonstrated right lower lobe clusters of noncalcified, solid nodules, largest measuring 10 × 15 mm, with an enlarged subcarinal lymph node (LN) measuring 1.4 × 2.8 cm (). She denied fever, chills, anorexia, night sweats, or weight loss. She was a never smoker and had no identifiable environmental or occupational exposures. Her physical examination and initial blood work including complete blood count (CBC) and chemistry were unremarkable. The decision was made to pursue biopsy of the enlarged subcarinal LN to test for old granulomatous disease, in particular, histoplasmosis. Under conscious sedation, endobronchial ultrasound (BF-UC180F bronchoscope) was advanced orally and transbronchial needle biopsy (EBUS-TBNA) of station 7 was performed. A total of 4 biopsies were obtained using a 21G needle (ViziShot Olympus). Rapid on-site evaluation (ROSE) commented on excessive necrosis from each pass. Cultures including bacterial, fungal, and acid-fast bacteria (AFB) were negative. Final cytology was negative for infectious and malignant etiologies.
Ten days later, she presented to the Emergency Room with complaints of a low-grade fever, shortness of breath, and sharp and posterior right-sided chest pain which worsened since the procedure. Her vital signs and physical examination were unremarkable. Initial laboratory work demonstrated a mild leukocytosis with left shift (12.5 × 109/L, 76.9% neutrophils), and CT chest was significant for a large subcarinal mass measuring 5.5 × 2.6 cm causing mass effect on adjacent vessels and esophagus (). Following an interdisciplinary discussion with IP, interventional radiology, and thoracic surgery, the decision was to proceed with mediastinoscopy for further evaluation. Intraoperatively, the subcarinal mass had thick fluid inside which grew Propionibacterium acnes (P. acnes). Fungal cultures, KOH stain, and AFB stain and culture were negative. Final histopathology showed fibroadipose tissue with fibrin, fat necrosis, and chronic inflammation consistent with abscess. There was no evidence of malignancy.
Two weeks later, the patient continued to have a cough and repeat imaging showed a new 7.7 × 3.9 × 8.0 cm irregular, heterogeneous, air-containing mass in the superior medial right lower lobe concerning a lung abscess (). The patient was admitted to hospital and begun on IV vancomycin and piperacillin-tazobactam and discharged on IV ampicillin-sulbactam. She was followed up in both IP and infectious diseases clinic 18 days later with significant improvement in symptoms and imaging. She was transitioned to oral amoxicillin-clavulanate for an additional month. Follow-up imaging after completion of antibiotics demonstrated near-resolution of the abscess (). |
pmc-6476035-1 | A 10-year-old overweight Hispanic female (BMI > 28) complaining of abdominal pain for 2 days was brought to our emergency department (ED) by her mother. The pain reportedly started in the periumbilical area and later localized to the right lower quadrant. She also reported left lower quadrant pain, anorexia, and nausea but denied vomiting. She had no fever. Upon arrival to the emergency department, her vital signs were within normal limits for her age, but physical exam revealed generalized lower abdominal tenderness with rebound and guarding.
Her laboratory investigation was positive for elevated white cell count of 12.10 per microliter of blood with a left shift. The rest of her laboratory results were within normal limits. Abdominal and pelvic CT scan were done which showed hyperemic appendix and hazy anterior mesentery and a small amount of free fluid (Figures –).
Based on the history, physical exam, and CT scan findings, a diagnosis of acute appendicitis was made and the patient was taken to the operating room for laparoscopic appendectomy. Intraoperatively, a tortuous retrocecal appendix with free fluid was found, and appendectomy was performed without any complications. After performing the appendectomy, the omentum was noted to be adherent to the anterior abdominal wall and on careful examination, it was noted to be hemorrhagic and necrotic as shown in Figures and . The necrotic omentum was resected and sent for histopathological examination. Although the infarcted omentum was mostly in the midline anterior abdominal wall, we did not have the necessity to place additional ports and were able to successfully resect the omentum with standard laparoscopic appendectomy port placements (umbilical port, left iliac fossa port, and suprapubic port). The patient had an uneventful postoperative course and was discharged on the second operative day.
Histopathological exam of the appendix revealed focal superficial acute mucositis and recent hemorrhage suggesting early acute appendicitis. Examination of the omental mass showed fragments of adipose tissue with hemorrhage, fat necrosis, and granulation tissue formation consistent with omental infarction (Figures –). |
pmc-6476038-1 | A 32-week gestational-age male infant was born to a 38-year-old G4P1 mother with premature prolonged rupture of membranes (PPROM) of 2 days duration. On the third trimester scan, the fetus was found to have cardiomegaly and splenomegaly. The neonate was delivered by caesarean section due to persistent fetal tachycardia and presence of meconium-stained amniotic fluid. Pregnancy history was otherwise unremarkable with protective maternal serologies including negative HIV testing, negative syphilis testing, immunity to hepatitis B, and immunity to rubella. Maternal history was significant for hypothyroidism, adequately treated on levothyroxine. At birth, he required positive pressure ventilation. Once stabilized, he was noted to have diffuse erythematous macules 2-3 mm diameter and well-defined borders over back, trunk, and extremities as shown in . A more detailed physical exam revealed a tachycardiac, nondysmorphic neonate, of birth weight 1760 g (50th percentile), head circumference 30 cm (66th percentile), and length 44 cm (78th percentile). Cardiovascular exam was normal aside from tachycardia. Respiratory exam revealed increased work of breathing that improved on CPAP. Abdominal examination showed the liver was 2 cm below right costal margin and the spleen 3 cm below left costal margin, otherwise was soft and not tender. Rest of exam was otherwise unremarkable. His initial CBC showed a Hb of 186 g/L, WBC of 32.6 × 109/L, and platelets of 47 × 109/L. His initial liver enzymes were as follows: GGT 600 unit/L, ALP 209 unit/L, AST 82 unit/L, ALT 24 unit/L, INR 1.7, PT 18.3 secs, and APTT 30.2 secs. A 12-hour bilirubin level revealed total 219 μmol/L with direct 83 μmol/L and indirect 136 μmol/L.
The patient continued to be persistently tachycardiac and hypertensive. A septic workup was done, and he was treated empirically with antibiotics. He was treated with phototherapy for the indirect component of his hyperbilirubinemia and received platelet transfusions for the thrombocytopenia. The presumed diagnosis was congenital infection. TORCH studies were sent and were negative. Due to elevated liver enzymes with cardiomegaly and hepatosplenomegaly, Genetics and Gastroenterology were consulted. A metabolic workup was done. Significant results were as follows: T4 greater than 100 pmol/L, TSH less than 0.01 mIU/L, and free T3 of 27 pmol/L. Thyroid-stimulating receptor antibodies were found to be elevated at 12.1 IU/L (normal <1.0 IU/L). His neck ultrasound showed a homogenously enlarged thyroid. Endocrinology was consulted and diagnosed neonatal Graves' disease. On further history, his mother revealed that she was hypothyroid secondary to Graves' disease treated with radioablative therapy many years prior to immigrating to Canada. Methimazole and propranolol were started. His tachycardia and hypertension improved, and his free T4 level decreased. Additionally, his rash resolved. An echocardiogram ruled out pulmonary hypertension and showed small PDA and fenestrated atrium. He required two platelet transfusions due to thrombocytopenia in the first week of his admission. His platelet levels normalized prior to discharge. During the course of treatment, he developed worsening transaminitis secondary to the methimazole. Thus, he was weaned from methimazole and treated with iodine. His bilirubin levels stabilized with total bilirubin 167 μmol/L and direct bilirubin 109 μmol/L. His transaminitis improved with GGT 292 unit/L, AST 196 unit/L, and ALT 119 unit/L. His thyroid function tests normalized at the time of discharge with a T4 level of 12 pmol/L, TSH less than 0.01 mIU/L, and T3 of 2.9 pmol/L. Iodine and propranolol were discontinued prior to discharge home. |
pmc-6476042-1 | A 21-year-old African-American male presented to our emergency department complaining of sudden onset of diffuse abdominal pain. His history was significant for recurrent episodes of gonococcal urethritis and no other ailments. He described this pain as diffuse and constant pressure that started suddenly that morning and had progressed throughout the day. Patient was hemodynamically stable with leukocytosis at 11,200 and a positive urinalysis. Computed Tomography (CT) revealed mild telescoping of loops of the small bowel and mesenteric fat in the left mid abdomen (). No obvious bowel obstruction or definitive masses were seen on imaging.
Persistent abdominal pain after 24 hours of observation prompted diagnostic laparoscopy revealing intussusception of the mid jejunum. This prompted open exploration, segmental resection, and primary anastomosis of the jejunum. Pathology reported marked congestion and focal reactive lymphoid hyperplasia in the lamina propria of the invaginated bowel. The patient was discharged home postop day 2 with an unremarkable follow-up. CT findings revealed mild telescoping of loops of small bowel and mesenteric fat in the left mid abdomen. Uncertain by these radiographic findings, exploratory laparoscopy was initiated, profoundly confirming inflammation and telescoping of the jejunum (). |
pmc-6476048-1 | A 24-year-old female with a history of HIV/AIDS, nonischemic cardiomyopathy, and methamphetamine and marijuana abuse presented with acute onset lower extremity pain. The patient reported to have snorted methamphetamine overnight and woke up with severe lower extremity pain as well as inability to move. Surgical history was significant for excision of sublingual glands. Family history: mother was HIV positive; both mother and father had significant history of substance abuse. She drank one to two alcoholic drinks per week and was an everyday smoker, between 1/4 pack and 1/2 pack per day. Her vital signs were significant for tachycardia, tachypnea, and hypotension. Lower extremity examination was positive for tender lower extremities with no palpable dorsalis pedis, posterior tibial, and popliteal pulses bilaterally. Initial lab tests were significant for lactic acidosis, acute kidney injury, EKG with nonspecific ST-T wave changes (), elevated troponin, 1.08 ng/ml, peaked at 3.5 ng/ml and urine drug screen was positive for methamphetamine and marijuana. Hemoglobin 11.9 gm/dl, white blood cells 10.4, platelets 178, sodium 139 mmol/liter, potassium 4.1 mmol/liter, chloride 104 mmol/liter, bicarbonate 20 mmol/liter, BUN 11 mg/dl, creatinine 1.3 mg/liter, blood glucose 141 mg/dl, AST 68 units/liter, ALT 41 units/liter, total bilirubin 0.9 grams/dl, alkaline phosphatase 107 IU/liter, and INR 1.8. Arterial and venous duplex of the lower extremities revealed no blood flow. CT angiogram showed large segment aortic occlusion (4 cm) just beyond the renal arteries and partial occlusive thrombus in the superior mesenteric artery with early ischemia (Figures and ). There were also multiple areas of bilateral renal infarcts left greater than right with the main renal arteries patent bilaterally. Transthoracic echocardiogram showed an echo dense mass, 2.4 cm × 2.8 cm, 1.2 cm × 2.0 cm in size, in the left ventricle with defined margins that are distinct from the endocardium seen throughout systole and diastole, consistent with left ventricular thrombus (Figures –). Ejection fraction was estimated to be 15 %, with increased wall thickness and grade 3 diastolic dysfunction. There was mild to moderate mitral and tricuspid regurgitation with normal valve structure. CT head was obtained due to an altered mental status which was negative for acute bleeding. The patient became profoundly hypotensive which was likely due to cardiogenic shock despite being on maximum vasopressors. She developed limb ischemia due to compartment syndrome requiring fasciotomy. Interventional radiology and vascular surgery were consulted, surgical thrombectomy was done. The patient's status worsened developing rhabdomyolysis, shock liver, and acute kidney injury with severe metabolic acidosis. She could not tolerate continuous renal replacement therapy. The patient had an episode of ventricular fibrillation and expired after three days of being hospitalized. |
pmc-6476061-1 | A previously healthy 29-year-old obese man of Hispanic descent with no significant past medical or surgical history presented with complaints of progressive epigastric and periumbilical abdominal pain of 4-month duration, with an acute exacerbation 2 days prior to his initial visit in our institution. He also experienced associated nausea and emesis, fevers, and chills with obstipation and no passage of flatus. On admission, he was tachycardic and febrile. On physical examination, he had a distended abdomen, which was also diffusely tender to palpation. There were audible borborygmi. History and physical exam were concerning for small bowel obstruction.
Routine laboratory investigations were unremarkable, except for mild hyponatremia and hypochloremia. A computerized tomography (CT) scan of the abdomen and pelvis with contrast revealed multiple dilated loops of small bowel in the midline upper abdomen with thickening of the intestinal wall, mucosal hyperenhancement, and fecalization of small bowel loops which appeared to loop on themselves, suggesting small bowel volvulus. Imaging further revealed adjacent inflammatory changes in the mesentery characterized as fat stranding, multiple enlarged mesenteric lymph nodes, questionable pneumatosis intestinalis, and free fluid in the pelvis with no evidence of free air.
The patient underwent emergent exploratory laparotomy and subsequent resection of 55 cm of grossly necrotic small bowel followed by primary enteroenterostomy and end-to-end anastomosis. Copious volume of hemorrhagic fluid was present within the abdomen prior to evisceration of the small bowel.
Gross examination of the small bowel showed brown, dusky, and focally granular serosa. The mesentery was markedly firm, fibrotic, and focally retracted the intestinal wall. No clear perforations or fistula were identified. Upon opening, the mucosa was brown and edematous. Serial sections through the specimen revealed hemorrhagic and fibrotic cut surfaces without the presence of a distinct mass. Microscopic examination showed a lobulated to infiltrative vascular neoplasm involving adipose tissue, serosa, muscularis propria, and submucosa (). The neoplasm was characterized by variable morphology, composed of nodules of small capillaries containing red blood cells and resembling capillary hemangioma () interspersed with ectatic, irregularly shaped vascular channels resembling lymphangioma (). Interspersed throughout the tumor were cellular regions composed of loose fascicles of spindle cells associated with extravasated red blood cells and slit-like vascular spaces, reminiscent of Kaposi sarcoma (). The spindle cells had oval nuclei with vesicular chromatin and demonstrated no significant cytologic atypia, mitotic activity, or necrosis. Punctuated throughout the tumor were scattered glomeruloid structures, present as rounded nodules of vessels associated with red blood cell fragments, hyaline droplets, and finely granular hemosiderin deposition (), characteristic of KHE. Immunohistochemical stains revealed that the tumor cells were strongly positive for the vascular endothelial markers CD34 and CD31. D2-40 (podoplanin), a lymphatic endothelial marker, highlighted cells in both capillary hemangioma-like areas and spindle cells areas (). A stain for HHV8 was negative, helping to exclude Kaposi sarcoma. The constellation of morphologic and immunohistochemical features was diagnostic of KHE involving small intestinal mesentery, muscularis propria, and submucosa.
Clinically, the patient had normal platelet levels, excluding an association with consumptive coagulopathy leading to thrombocytopenia (Kasabach-Merritt phenomenon). No complications were reported during the procedure or in the immediate "post-operative period", and the patient was discharged after stabilization and recovery of intestinal function with outpatient follow-up planned shortly thereafter. At the time of this report, the patient is stable, with no evidence of disease 5 months after surgery. We opted to manage him expectantly with serial CT scans of the abdomen and pelvis and to monitor for signs and symptoms that would suggest the development of Kasabach-Merritt phenomenon. |
pmc-6476065-1 | The patient, now a 5-year-old female, had a gestation period notable for intrauterine growth restriction (IUGR); her G3P2 mother had pre-eclampsia and hyperemesis during the pregnancy. The patient was born to non-consanguineous parents at 38 weeks by cesarean section, weighing 2.49 kg. She required resuscitation at birth. During infancy, she had hypotonia, laryngomalacia requiring supplemental oxygen, aspiration episodes requiring Nissen and g-tube placement, and prolonged growth failure. Her head circumference maintained trajectory at the 50th percentile, although her length/height has been consistently below the 5th percentile. Her dysmorphic features included broad forehead, midface hypoplasia with prognathism, depressed nasal bridge, hypertelorism, synophrys, deep set eyes, downslanting palpebral fissures, tongue protrusion, occipital flattening, and small hands.
MRI at age 3 showed ventricular prominence without hydrocephalus and diminutive geni and corpus callosum. EEG showed moderate generalized slowing and occasional independent left and right lateralized slow waves during sleep (bihemispheric dysfunction) and no epileptiform activity. EKG and echocardiogram were normal.
At her last examination at 5 years of age (), she remains significantly delayed. She smiles and knows 3-5 single words that are used infrequently. She is able to sit, roll, and start to cruise when placed in standing position. Her ocular abnormalities include having a myopic astigmatism in both eyes requiring glasses, an intermittent alternating exotropia, and high frequency, low amplitude horizontal nystagmus. She was unable to cooperate with eye chart testing, but was able to fix and follow an object with each eye.
Her additional medical problems include idiopathic hypertension, precocious puberty, obstructive sleep apnea, eosinophilic gastritis, seizures, hypohydrosis with overheating, recurrent fever of unknown origin, and intellectual and motor disability. Whole exome sequencing conducted on both parents and the patient (trio WES) identified a pathogenic missense c.247C>T p.Arg83Cys de novo variant in the NAA10 gene. X-inactivation testing was conducted by PCR analysis of a polymorphic CAG repeat in the first exon of the androgen receptor (AR) gene. Methylation of sites close to this short tandem repeat has been demonstrated to correlate with X chromosome inactivation []. Amplification of the AR gene both before and after digestion with the methylation sensitive HpaII restriction enzyme was used to determine the methylation status of the X chromosome. This testing revealed a highly skewed X-inactivation pattern (100:0). |
pmc-6476073-1 | 69-year-old female with no significant past medical history with the exception of anxiety presented as a transfer from an outside hospital with acute onset of hypersomnolence and aphasia. She was last seen normal the night before by her family. Her vitals on arrival were within normal limits; blood pressure was 134/64 mmHg, heart rate was 88 per minute, respiratory rate was of 22 breaths per minutes, and she was afebrile. On exam she appeared drowsy, nonverbal, and intermittently following one-step commands. Her cranial nerves were intact and on motor exam she had mild generalized weakness but was able to move all extremities against gravity. Sensory exam was confounded by her decreased mental status. Bilateral plantar reflexes were equivocal. National Institute of Health Stroke Scale (NIHSS) was 10. She was out of the 4.5-hour time window to consider IV thrombolysis therapy and on exam her presenting symptoms did not localize to one cerebral vascular territory.
Initial diagnostic work-up: serum white blood cell count 11000/uL, hemoglobin 14.2g/dL, platelets 190000/uL, sodium 143mmol/L, potassium 5.7mmol/ (repeat 4.4mmol/L), blood urea nitrogen 34mg/dL, creatinine 1.05mg/dL, glucose 323mg/dL, troponins <7ng/L, aspartate aminotransferase 46 U/L, and alanine aminotransferase 45 U/L. Urinary analysis was positive for moderate leukocytes and negative nitrites, and her toxicology screen was negative.
Noncontrasted CT brain demonstrated bilateral thalamic hypodensities. A CT angiogram (CTA) demonstrated focal areas of basilar artery narrowing, an Artery of Percheron (AOP) arising from the right PCA (Figures , , and ) and no large vessel occlusions. MRI brain demonstrated bilateral paramedian thalamic infarcts (Figures and ) extending into the midbrain on diffusion weighted imaging (DWI). Her ejection fraction was 65% with no atrial septum shunt on transthoracic echocardiogram.
Her serum low density lipoprotein was 130mg/dL and her glycosylated hemoglobin was 13.8%. She was diagnosed with diabetes mellitus type 2. Her stroke etiology was thought to be secondary to small vessel disease given the arterial bed involved and her uncovered lipohyalinosis risk factors. Patient was discharged on atorvastatin 40 mg, aspirin 81 mg, and an insulin regimen. On discharge to rehab her NIHSS improved to four. |
pmc-6476074-1 | A 54-year-old male with chronic kidney disease who was followed up in the nephrology clinic for several months presented with constitutional symptoms, progressive severe pain over both calves, and ankle swelling for seven weeks' duration. The patient was unable to walk due to severe myalgia and was confined to the bed due to worsening pain even with slightest movement. He also had recent arthralgia for which he was seen by a rheumatologist and was under investigation for a seronegative polyarthritis. He had numbness over both feet, progressing over 3 months. On examination, there was significant tenderness over most muscles in the body but predominantly over calf muscles and had worsening pitting ankle edema. He had normal blood pressure and no rashes on the body. There was a stocking type sensory loss over bilateral feet up to the ankles. Rest of the examination was unremarkable.
Initial investigations revealed neutrophil leukocytosis (WBC 14,500/µL) with elevated inflammatory markers of erythrocyte sedimentary rate (ESR) of 120 mm/hr (<25 mm/hr) and C-reactive protein 135 mg/L (<6 mg/L). Hemoglobin was 10.7 g/dl with a normocytic normochromic anemia, and platelets were 298 × 109/l. Blood cultures and urine culture were negative. Urine full report did not reveal red cells or proteinuria. The liver biochemistry panel was within normal range except for serum albumin which was around 24 g/l. Serum creatinine was elevated from his baseline value to 208 µmol/L (baseline around 150 µmol/l–eGFR 31 mL/min/1.73 m2). Ultrasonography of abdomen showed small echogenic kidneys which is compatible with his renal condition and showed normal hepatic sonography. His fasting plasma glucose, lipid profile, thyroid function tests, chest radiograph, and electrocardiography were normal.
Due to the disabling muscle aches, we initially performed an ultrasonography which showed some evidence of myositis (muscle inflammation) with no evidence of deep vein thrombosis. Serum level of creatine kinase (CK) is 137 U/L (200–500 U/L), and nerve conduction study/electromyography did not show any evidence of myopathy or myositis. Calf muscle biopsy was performed, and histology showed fibrinoid necrosis of the wall of interfascicular small and medium vessels with infiltration of inflammatory cells ().
On the day 14 after admission, a vasculitic-type generalized rash appeared over the extensor surfaces of the forearms and legs (). Possible vasculitis was suspected, and high-dose steroid was initiated after sending investigations for ANCA, ANA, RF, cryoglobulins, and complements level which were negative. Skin biopsy was performed and sent for the histological evaluation. It demonstrated evidence of acute bullous vasculitis with leukocytoclasia in medium-sized vessels of dermis subsequently. There was no evidence of dysplasia or malignancy. With steroids, the fever and myalgia subsided and the ESR and CRP levels lowered to 32 mm/hr and 18 mg/L, respectively. Subsequently, his blood pressure was found to be elevated at 160/100 mmHg. 2D Echocardiogram, hepatitis B surface antigen, hepatitis C antibody, and HIV screenings were negative, and serum protein electrophoresis did not reveal any monoclonal band.
Despite high-dose steroids with pulse therapy over one week, the rash progressed to an ecchymotic stage (). Subsequently, we noticed that he developed bilateral foot drop, and after few days, he developed left ulnar claw (Figures and ). Due to the presence of vasculitic rash, worsening polyneuropathy leading to significant disability and renal involvement, we suspected PAN. Hence, we performed a renal and mesenteric artery CT angiogram which revealed 8 mm stenosed segment of celiac artery 5 cm distal to its origin without evidence of visible aneurysms elsewhere (). Absent sensory and motor responses were noted for the left ulnar nerve on neurophysiology study which was performed after one month from appearing of left ulnar claw. Due to the worsening nature of the disease, we initiated him on two weekly pulses of intravenous cyclophosphamide and continued high-dose prednisolone for a month and was gradually tailed off.
He completed six cycles of intravenous cyclophosphamide pulse therapy with oral prednisolone. With these medications and rehabilitation, the patient was able to walk without support, almost after five months of treatment. Foot drop and ulnar claw were persistent but with improvement over time. |
pmc-6476104-1 | An 81-year-old male presented with a long standing ulcerated growth involving his left side face (). His comorbidities included diabetes and hypertension. He had asymptomatic inguinal hernia. The initial histopathological diagnosis confirmed basal cell carcinoma. The lesion did not invade the underlying bone. Based on the diagnosis and the general condition of the patient, it was planned to perform wide excision+reconstruction with a modified cervicofacial flap. The entire procedure was performed under local anesthesia as the patient was a high risk category for general anesthesia. |
pmc-6476109-1 | A 34-year-old nonsmoker male patient presented to the emergency room with a one-week history of dyspnea, pleuritic chest pain, and a nonproductive cough. His past medical history was significant for a motor vehicle accident five years earlier that had resulted in multiple left-sided rib fractures, pulmonary contusions, and a hemopneumothorax requiring tube thoracostomy (); this left a residual nodular density in the left lower lobe (). On physical exam, he was afebrile, normotensive, tachycardic, hypoxic and in mild respiratory distress and had diminished breath sounds bilaterally.
Laboratory work-up showed a white blood cell count of 20,500/mm3. His electrocardiogram showed sinus tachycardia. X-ray imaging of the chest revealed a left lung base opacification. Computed tomographic (CT) angiography of the lung demonstrated bilateral pulmonary emboli, a 6.6 × 5.4 cm opacity in the left lower lobe with interlobular septal thickening, prominent interstitial infiltrates within the left lung, and paratracheal lymphadenopathy (). This opacity had enlarged significantly when compared to the one visualized at the same location in 2012 (). The patient was treated with IV heparin for pulmonary embolism. A CT-guided biopsy of the lung mass and endobronchial ultrasonographic sampling of the mediastinal lymph nodes established the diagnosis of lung adenocarcinoma. Further imaging obtained to complete the staging work-up revealed widespread metastasis to the bone.
Immunohistochemical testing for programmed death-ligand 1 showed 50 percent expression. Molecular analysis did not show the presence of EGFR mutations and ALK/ROS1 translocations. While these tests were pending, treatment with carboplatin and paclitaxel was started. However, after the first cycle of chemotherapy, the patient became critically ill and was hospitalized. Subsequently, he developed features of disseminated intravascular coagulation and passed away shortly thereafter. |
pmc-6476110-1 | This 6 8/12-year-old Hispanic girl developed nephrotic syndrome at age 2 7/12 years, which was found to be steroid resistant. Renal biopsy showed minimal changes with focal IgM staining. Proteinuria continued despite treatment with steroids and immunosuppressive drugs, and repeat renal biopsy showed significant focal glomerular sclerosis (FSGS). She continued to have marked proteinuria and edema. She was also growing at <3 percentile for height. With the prospect of a need for transplantation, treatment with growth hormone was discussed with the family but they declined. Renal function deteriorated rapidly, and she was started on continuous cycled peritoneal dialysis for one year. She had a kidney transplant from her mother at age 3 9/12 years.
She developed proteinuria immediately after transplant (day zero), which continued despite aggressive medical therapy with immune-suppressants, plasmapheresis, and rituximab. Six months later (age 4 3/12 years), she was started on an ACTH analog (Acthar gel 40 units IM three times a week). There was gradual resolution of her proteinuria and edema over the next few months. She remained in remission on ACTH. However, she developed obesity and a generalized increase in body hair. She continued to have poor linear growth, which was attributed to familial factors, her renal disease, and ACTH therapy.
Almost three years after transplant, at age 6 8/12 years, she was seen by endocrinologists for concerns of poor growth and possible precocious puberty. On exam, she was Cushingoid. She was 109 cm tall (2.2% tile), weighed 22.9 Kg (61% tile), and body mass index was 19.3 (95% tile). She had generalized increase in body hair and a small amount of axillary hair. She was Tanner 3 for breast development and Tanner 4 for pubic hair. The clitoris was normal, and the vaginal mucosa appeared to be prepubertal. Laboratory studies confirmed high concentrations of cortisol and adrenal androgens (, Month 0). Gonadotropins were at prepubertal levels, and estradiol was elevated. Bone age was only mildly advanced at 7 10/12 at chronologic age of 6 8/12 years. Likewise, pelvic ultrasound showed prepubertal uterus with imperceptible endometrial stripe (<1 mm), right ovarian volume 0.8 cc, and left ovarian volume 1.3 cc. Additional biochemical studies are also shown in .
Our impression was that ACTH treatment had resulted in hypersecretion of adrenal androgens and that breast development was the result of aromatization of androgens. There were concerns that a rapid reduction in ACTH dose might result in recurrence of proteinuria. Accordingly, her ACTH dose was slowly decreased. Two months after initial presentation, due to continued breast development, she was started on an aromatase inhibitor (anastrozole 0.5 mg daily) to block the conversion of androgens to estrogen (, Month 2).
While on the aromatase inhibitor, her breast tissue regressed, and she was Tanner 2 on repeat exam 1 month after starting the medication. Over the next month, however, breast development resumed while still on treatment with aromatase inhibitors, and laboratory studies showed increasing concentrations of gonadotropins and estradiol (, Month 4). A repeat pelvic ultrasound now showed maturing ovaries and uterus, all consistent with development of central precocious puberty. She was then started on an analog of luteinizing hormone-releasing hormone (LHRH; depo-lupron 30 mg IM once every 3 months) to suppress gonadotropin production. After 4 months of LHRH therapy, she has had suppression of gonadotropins (, Month 8) and resolution of breast development. Over one year after starting LHRH therapy, her puberty is still suppressed, both clinically and biochemically (, Month 20). Her interval linear growth has been appropriate, and her nephrotic syndrome is still in remission. |
pmc-6476112-1 | A 36-year-old male with no past medical history presented to the hospital with two syncopal episodes, worsening palpitations, and progressive dyspnea on exertion (NYHA class II-III). He reported no prodromal symptoms, immediately regained consciousness after a few seconds without any postictal signs. First syncopal episode occurred 2 weeks earlier while in a passenger seat; he sought no medical attention at the time. The second episode was during a coughing fit the evening of his presentation. Both episodes were said to be witnessed without any seizure activity. Six months prior to the onset of the syncopal episodes, he began experiencing dyspnea with mild exertion which progressed, limiting his functional activities. He reported a 40 lbs weight loss over six months which he had attributed to his intent to lose weight (BMI 38). He also admitted to night sweats but denied chest discomfort, increased abdominal girth, or leg swelling.
Physical examination revealed BP 123/78 mmHg, HR 120-150 sbpm which was irregularly irregular, RR 26 breaths per minute, hypoxic at 88% on room air with improvement in Bipap, and laying in Trendelenburg position, negative orthostatic. There was a presence of bibasilar crackles in the lung field, no jugular venous distention or peripheral edema noted, cardiovascular examination was limited due to body habitus and rapid irregular heart rate, and the rest of the exam was unremarkable except for morbid obesity. Electrocardiogram (EKG) showed supraventricular tachycardia and subsequently atrial fibrillation (); there was no old EKG to compare. He was started on Cardizem drip at 5 mg/hour and titrated up to maintain a goal heart rate of 80-110 bpm. Chest radiography remarkable for bilateral pleural effusion is worse on the left than the right.
A Computed Tomography Pulmonary angiography study was negative for pulmonary emboli but revealed a left atrial mass (). A transthoracic echocardiogram (TTE) showed an 8-9 cm atrial mass attached to the interatrial septum (). Given significant outflow obstruction, the patient was taken to the operating room (OR) for possible resection. Transesophageal echocardiogram () in the OR demonstrated similar mass with multiple lobes and a broad base attached to the septum, encroaching into the right atrium, aortic root wall, base of the anterior mitral leaflet flowing to the mitral orifice in diastole also obstructing the right pulmonary vein seen in. A biopsy and partial resection were performed with no much change in size; the patient was not a candidate for complete resection due to the extensive cardiac involvement.
Pathology () revealed intimal sarcoma evidenced by markers positive for MDM2, CDK4 gene, and KIT and PDGFRA amplification. The patient was rate and rhythm controlled with Cardizem and digoxin. An oncologist was consulted with a plan of treatment with doxorubicin and olaratumab. However, the patient against medical advice wanted to delay treatment for few days. He unfortunately expired from pulseless electrical activity arrest during the same hospital admission after 3 weeks of hospitalization. |
pmc-6476114-1 | A 13-year-old right hand-dominant girl had fallen on her hand and injured the right elbow during her way to school and visited our clinic soon after. Her chief complaint was a severe pain of the right elbow that was apparently swollen. Active and passive motion of the elbow was not possible due to pain, but no neurovascular deficits were observed in her left arm. She had a history of dwarfism and had been undergoing growth hormone replacement therapy since she was 7 years old at our hospital. She also had a history of developmental dysplasia of the left hip and a habitual patellar dislocation of the right knee. For the patellar dislocation, she underwent reconstructive surgery of the medial patellofemoral ligament when she was 12 years old, and at that time, her general joint laxity was diagnosed with the Beighton score of 6 points.
In plain X-ray and CT scan of the elbow, apparent displaced medial epicondyle fracture (Watson-Jones classification type 2) together with an avulsed thin fragment of the lateral epicondyle was detected; however, no proximal radial fracture or a coronoid fracture was observed (). She could not undergo MRI because of her panic disorder and claustrophobia.
The next day after the injury, her surgery was performed under general anesthesia. Prior to skin incision, ultrasonography and stress X-rays of the elbow were evaluated. Proximal avulsion of LCL from the epicondyle was clearly seen in the ultrasonography (). Valgus and varus stress tests were performed bilaterally with her elbows at a 20-degree flexed position. The side-to-side differences of the joint space widening were 8 mm in the valgus stress and 3 mm in the varus stress, which were significantly worse in the right elbow ().
For the medial epicondyle fracture, conventional open reduction and internal fixation was performed using tension band wiring technique. Then, the lateral epicondyle was exposed and there was a complete avulsion of the LCL complex but the conjoined extensor tendon was not involved. After refreshing the stump of the ligament and footprint, 3 suture anchors (φ1.4 mm JuggerKnot®, Zimmer Biomet, Warsaw, IN, US) were inserted into the footprint and LCL complex was sutured by double row fixation technique ().
Postoperatively, her elbow was immobilized with a plastic cast for 3 weeks and then was allowed active and passive motion with a soft brace. She was able to return to her preinjury daily activities 2 months after the surgery. The wires were removed 4 months after the primary surgery. At that time, the medial epicondyle fracture was united, and side-to-side differences of the joint space widening were 2 mm in the valgus stress and 1 mm in the varus stress, which had significantly improved compared with the previous findings (). Her follow-up was completed 7 months after the primary surgery, with no pain, no limitation of ROM, and no functional deficits due to the elbow injury. |
pmc-6476121-1 | A 55-year-old Caucasian female patient was admitted in the emergency department with hematochezia and lower abdominal pain. She had no significant prior medical history. On examination, the patient had normal vital signs and a palpable painful mass on the left lower quadrant of the abdomen. Laboratory data revealed a haemoglobin level of 11,8 g/dL. Abdominal ultrasound showed a mass on the left lower quadrant with possible intussusception ().
An abdominal computed tomography (CT) scan was then performed, with rectal and IV contrast, which had no signs of lesions or intussusception (). On reevaluation, the mass was no longer palpable, although pain was still present. Subsequently, the patient was admitted on the surgical ward for further investigation.
Upper endoscopy was performed which was normal, and lower endoscopy revealed hematic residues but no lesions detectable (). Throughout hospital stay, the patient presented intermittent episodes of palpable abdominal mass and intermittent blood loss, with asthenia and syncope.
Haemoglobin level dropped to 7,1 g/dL, with need of transfusional support. Repeated lower endoscopy did not show the haemorrhage source. CT enterography was ordered, which revealed a 20-24 mm jejunoileal lesion, compatible with GIST (Figures –).
Hence, based on known findings, the diagnosis of intermittent GI bleed and transient intussusception due to small bowel GIST was established. A laparotomy was undertaken with small bowel resection containing the lesion (). The patient recovered well and was discharged home on the 5th postoperative day. In follow-up consultation, the patient was asymptomatic, without new episodes of GI bleeding.
Histological examination confirmed jejunoileal GIST with 2,6 cm, without necrosis or vascular invasion, with a mitotic index of <5 per 50 high power field (HPF). Thus, it was a low risk GIST, according to the modified National Institute of Health (NIH) method. In multidisciplinary reunion, it was decided to keep the patient only on clinical surveillance. |
pmc-6476123-1 | A 61-year-old woman presented to our hospital with low back pain. Trauma history was vague except for falling 40 cm from a bed a month earlier. She had a past history of eosinophilic granulomatosis with polyangiitis and was treated with prednisolone (40 mg/day) 3 months before presenting at our hospital. Her bone mineral density in the hip had a T-score of −4.7, and bisphosphonate and vitamin D were initiated to treat osteoporosis. She underwent computed tomography (CT) and was diagnosed as having a left vertical sacral fracture and treated conservatively. Three weeks after her initial diagnosis of sacral fracture, her low back pain worsened and she started to have radiating left posterior thigh pain with symptoms of stress urinary incontinence, constipation, and loss of anal sensation.
On examination, she had weakness of dorsiflexion of her left ankle and flexion of both great toes, in which the muscular power was grade 3/5 and 4/5, respectively, as measured with manual muscle testing (MMT). Sensation to pinprick on her S2 receptive field was impaired. Lumbosacral magnetic resonance imaging using a short inversion time inversion recovery (STIR) sequence revealed an H-shaped fracture in the sacrum, but there were no abnormal findings such as spinal stenosis in her lumbar spine potentially explaining for her neurological symptoms (). Repeated CT demonstrated slightly aggravated displacement of the sacral fracture compared with previous CT ().
We consulted a urologist, and the patient was diagnosed as having stress incontinence because of poor function of pelvic floor muscles or the sphincter. However, we speculate that both the weakness of dorsiflexion of the ankle and great toes and loss of anal sensation could be attributed to SIF and recommended that she undergo surgery. She underwent lumbopelvic fixation from L3 to the ilium using a minimally invasive technique with a percutaneous pedicle screw system () []. Her radiating leg pain, motor weakness in her ankles, and symptoms of stress urinary incontinence improved markedly a few days after surgery, as did her anal sensation. Her postoperative course was uneventful except for delayed wound healing of a skin incision for placement of the left iliac screws. One week after surgery, she could use a wheel chair, and after 4 weeks, she was permitted full weight bearing, was able to walk with a cane, and was discharged. Subcutaneous injection of teriparatide 20 μg daily was used postoperatively. At a 6-month follow-up examination, the patient reported no low back pain and was walking independently without pelvic complaints. CT revealed that bone union was achieved. |
pmc-6476131-1 | A previously healthy 20-year-old Caucasian man was presented to the emergency department following two episodes of loss of consciousness occurring at rest over a fortnight. A witness described collapse followed by shaking of all four limbs but no other epileptiform activity. Spontaneous recovery occurred after a few minutes. The patient denied alcohol or drug use and had an otherwise unremarkable medical history. He had no family history of blackout, collapse, or unexplained sudden death. Physical examination was entirely normal, with specifically no evidence of cardiac failure, no audible murmurs, no tetany, and no facial dysmorphia. He was haemodynamically stable. An initial diagnosis of “seizure” was made in the emergency department pending for further investigations.
His ECG demonstrated sinus rhythm with a prolonged corrected QT interval of 588 ms (normal <450) (). The PR interval and QRS duration were within normal limits. Admission bloods revealed a corrected calcium of <1.25 mmol/L (normal range 2.2-2.5), phosphate 2.88 mmol/L (0.8-1.4), and alkaline phosphatase (ALP) 172 μ/L (35-135). The rest of his bloods, including magnesium, potassium, and renal function, was normal. Endocrine investigations showed a parathyroid hormone (PTH) of <3 ng/mL (14-72), vitamin D 24.1 nmol/L (25-50), and normal thyroid function tests. Echocardiography showed no structural abnormality and preserved ventricular size and function. Computerised tomography (CT) head was also unremarkable.
The patient was admitted to a monitored bed and commenced on intravenous calcium replacement (10 mls 10% calcium gluconate bolus over 30 minutes, followed by infusion of 1% calcium gluconate in one litre of normal saline at a rate of 50 mls/hour). Whilst on the cardiac monitor he was observed to have short episodes of nonsustained polymorphic ventricular tachycardia (VT) which spontaneously resolved; some of these were associated with dizziness but no loss of consciousness. As his serum calcium rose, his ECG normalised and he had no further presyncopal episodes. Once the serum calcium and QTc were within normal limits, he was discharged on oral calcium and vitamin D supplement (Calcichew D3 one tablet twice daily) and 1-alpha-calcidol 1 mcg once daily with early follow-up.
Screening of the patient's mother and younger brother revealed that they too had low levels of PTH and hypocalcaemia but to a less severe degree. His mother's ECG demonstrated a QTc at the upper limit of normal whilst his brother's was within normal limits. The patient was estranged from his father. The family underwent extensive genotyping to identify an underlying cause for their hypoparathyroidism but as yet no clear genetic variant has been identified.
At initial follow-up, the patient's serum calcium and ECG parameters have remained within the normal range, and he has suffered no further syncopal episodes. |
pmc-6476132-1 | We report a case of a 47-year-old Filipino female diagnosed with SLE 17 years ago maintained on prolonged oral prednisone 10 mg/day, azathioprine, and hydroxychloroquine. She also had chronic kidney disease from lupus nephritis, secondary hypertension, and dyslipidemia. She was a nonsmoker.
She initially presented with a week-long watery nonbloody diarrhea with associated diffuse crampy abdominal pain and generalized weakness. There was no fever nor vomiting. She was admitted for a week at a provincial hospital and was given an unrecalled antibiotic with resolution of symptoms. Upon discharge, however, she experienced severe right lower quadrant pain radiating to the back and left lower quadrant for two weeks, with no history of diarrhea, vomiting, dysuria, and fever. She was readmitted at the provincial hospital where diagnostics revealed anemia and urinary tract infection, for which she was transfused with packed red blood cell units and given unrecalled intravenous antibiotics, respectively. Blood cultures were initially negative. Abdominal imaging revealed bilateral renal parenchymal disease and an infrarenal aortic aneurysm. Appendicitis was ruled out by symptomatology and imaging. She was then transferred to our institution for surgical repair of the aneurysm.
During her admission at the surgical ward, antihypertensive medications were titrated to keep her blood pressures less than 120/80. Prednisone was given at 1 mg/kg/day. Hydroxychloroquine 200 mg OD, mycophenolate mofetil 500 mg BID, and atorvastatin 40 mg OD were continued. She continued to have intermittent abdominal pain. There was no fever, overt bleeding, dysuria, or recurrence of diarrhea. Complete blood count showed slight leukocytosis, and the C-reactive protein was elevated. A computed tomography (CT) aortogram revealed an infrarenal aneurysm with signs of dissection and retroperitoneal hematoma formation, indicative of leakage (see Figures –). Given the absence of fever and no signs of ongoing infection, antibiotics were not yet started. An atherosclerotic mechanism was primarily considered, but a vasculitic process was likewise considered due to elevated acute phase reactants.
The initial plan was Endovascular Aneurysm Repair (EVAR) but due to financial limitations, an exploratory laparotomy with infrarenal endoaneurysmorrhaphy was eventually performed. Intraoperative findings were a saccular infrarenal aneurysm with dissection up to the proximal right common iliac artery and an abscess compartment, with an aspirated volume of approximately 5 mL, within the false lumen in the anterior aortic wall. The entire infected aneurysmal segment was resected, and piperacillin-tazobactam was immediately started. Abscess culture yielded a high growth of Salmonella group B. Guided by the sensitivity pattern, the antibiotic was shifted to Ceftriaxone. This was continued after discharge as outpatient parenteral antibiotic therapy to complete 6 weeks then a lifetime of chronic suppressive therapy with trimethoprim-sulfamethoxazole (TMP-SMX) 160/800 mg OD. Syphilis and HIV screening were both negative. Micrographs of the aortic wall biopsy showed fibrin deposition necrosis and calcification with peripheral viable cellular infiltrates consisting of neutrophils and foamy macrophages consistent with an atherosclerotic process (see Figures –). Given the histopathologic findings that favored aortitis rather than vasculitis, steroids were tapered down gradually. Aspirin was started postoperatively. Atorvastatin and antihypertensive medications were continued. She was discharged after 2 weeks and followed up regularly at the outpatient clinic. |
pmc-6476142-1 | The patient provided written consent for publication.
A 68-year-old man sustained multiple rib and spine fractures after being involved in a tractor rollover crash. His injuries included left 1st-12th rib fractures, right 1st-6th rib fractures, displaced T12 spinous process fracture, L1 burst fracture, L2, 3, and 5 transverse process fractures, and a left clavicle fracture. Due to the extent of his injuries, the patient described severe pain in his thorax and back. The patient was initially treated with multimodal analgesia including scheduled acetaminophen (1000 mg 4 times daily), gabapentin (300 mg 3 times daily), hydromorphone patient-controlled analgesia (PCA) with an average 24-hour hydromorphone consumption of 4.7 mg/day, and lidocaine patches. Given his traumatic spine fractures, an epidural was contraindicated. However, pain remained poorly controlled. A 48-hour continuous infusion of ketamine at 10 mg/hr resulted in a mild improvement in pain control, with ratings decreasing from 10/10 to 8/10 on the numerical rating scale (NRS) for pain. However, the patient continued to require high-flow nasal cannula (HFNC) and intermittent continuous positive airway pressure (CPAP) to improve respiratory function due to splinting from pain.
On postinjury day 3, the patient then presented for surgical repair of his L1 burst fracture with T11-L3 posterior spinal instrumentation. Intraoperative epidural placement by the surgical team was considered, but determined unsafe given the high risk of surgical-site bleeding and concern for epidural hematoma formation. Thus, the decision was made to proceed with intraoperative placement of bilateral ESP catheters.
Following completion of the surgical procedure, the patient was maintained under general anesthesia in the prone position on the operating room table. After informed consent, a right-sided ESP block was performed using ultrasound guidance with a high-frequency linear ultrasound probe. The right T5 transverse process was identified with the ultrasound positioned in a parasagittal orientation approximately 3 cm off midline. A 17-gauge Tuohy needle was advanced in a cephalad to caudad direction using an in-plane needling technique to a position immediately posterior to the T5 transverse process and anterior to the erector spinae muscle. The ESP was identified with a bolus injection of 15 mL of 0.25% bupivacaine with 2.5 mcg/mL of epinephrine into the fascial plane. Then, an indwelling catheter was advanced 5 cm into the ESP. Catheter placement was confirmed with an additional 10 ml of 0.25% bupivacaine with 2.5 mcg/mL of epinephrine injected through the catheter under ultrasound visualization. After securing the catheter, the same procedure was repeated on the left side. Supplemental intraoperative analgesics administered prior to ESP catheter placement included continuation of the ketamine infusion at 10 mg/hr and 100 mcg of fentanyl. No additional analgesics were given intraoperatively.
Postoperatively, analgesia was maintained through the ESP catheters using a programmed intermittent bolus technique with 10 mL of 0.2% ropivacaine injected into each catheter via an infusion pump every 60 minutes in addition to a multimodal analgesia regimen. In the postanesthesia care unit (PACU), the patient initially reported 0/10 pain on the NRS pain scale, with a highest rating of 5/10 at the time of discharge from the PACU. The majority of the pain described by the patient involved anterior rib pain and left shoulder pain; back pain was a smaller contributor to his overall pain burden. The ketamine infusion was discontinued in the PACU given his improvement in pain control. Over the subsequent 7 postoperative days, the patient continued to report significant improvement in pain control in his ribs and back. NRS pain ratings were consistently less than preoperative ratings with scores ranging from 1/10 to 5/10. In addition, the patient localized the most severe pain to his left shoulder, secondary to the clavicle fracture sustained in the trauma. Average 24-hour hydromorphone consumption also decreased to 3.8 mg/day, which was a 20% decrease from preoperative consumption. The modest reduction in opioid consumption was most likely related to the extent of his injuries and his concomitant clavicle fracture. Respiratory status improved and he was successfully weaned from HFNC on postoperative day 1. The ESP catheters were left in situ for 7 days until pain control could be optimized with an oral analgesia regimen and the patient was successfully discharged home. |
pmc-6476143-1 | A 41-year-old, systemically healthy female presented to the Clinic of Hassan II University, Casablanca, Morocco, with esthetic complaints related to GR (Figures –). Upon intraoral clinical examination, a deep Miller Class III GR was detected on the buccal aspect of the tooth #2. The root apex was exposed entirely and a degree 3 Muhlemann [] mobility associated to a tooth extrusion was diagnosed. Probing examination revealed pockets of 6 mm on the buccal and palatal mesial aspect and pockets of 5 mm on the buccal and palatal distal aspect. Radiograph showed an advanced vertical bone loss on the mesial and distal aspects of the tooth with an apical lesion and mild root resorption. Thermal pulp tests indicated necrotic pulp. Occlusion was checked, and there was an occlusal trauma. A diagnosis of a periodontal-endodontic lesion in the tooth #2 was then confirmed. After oral hygiene instructions, the patient received mechanical therapy (scaling and root planing) associated with antimicrobial drugs (amoxicillin 500 mg+metronidazole 250 mg 3 times a day during 7 days). An endodontic treatment was performed on the tooth #2 (). Two months later, based on the analysis of the possibility of tooth maintenance and on the patient's choice for a more conservative procedure, the decision was made to preserve the tooth. The aims of the corrective phase of the treatment were to cover the GR, to augment KT around the tooth #2, and to correct the occlusion by an orthodontic treatment. The chosen treatment for root coverage consisted of a lateral positioned flap (LPF) (there was a sufficient band of keratinized tissue (KT) laterally to the recession) (). Following local anesthesia, the recipient site was prepared to accommodate the LPF (). First, a V-shaped incision in the peripheral gingiva in the GR area was made followed by a wide external beveled incision on the mesial aspect and an internal beveled incision on the distal aspect creating close adaptation of the flap. An internal beveled incision toward the alveolar bone crest from the free gingival margin of the donor site was performed and continued by a distal vertical releasing incision extended to the alveolar mucosa. After that, a partial-full-thickness flap was raised. After flap incision and dissection, the exposed root surface was carefully planned with a hand curette. The prepared flap was positioned laterally to cover the GR and the removed epithelium from the mesial area of tooth #2, which was stabilized with discontinued periosteal sutures (). At 6 months, a consistent reduction of baseline recession depth (2/3 of initial baseline or 70% of root coverage) was observed () and an orthodontic treatment was then started in order to correct traumatic occlusion (Figures –).
After 6 years of follow-up, clinically significant recession reduction (RR) (70% of root coverage), keratinized tissue (KT) augmentation (5 mm), and clinical attachment level gain were achieved. No bleeding on probing was observed during or after orthodontic treatment, and no GR was observed at the donor site (). Regarding patient centered outcomes (recession reduction, color, and thickness of soft tissue), the patient showed a higher satisfaction. |
pmc-6476146-1 | A healthy 19-year-old male patient attended to our clinic with a chief complaint of maxillary anterior teeth because of the fractures (Figures and ). All the documents related to the patient including dental anamnesis, intra- and extraoral photographs, and bite registration with impressions from the maxilla and mandible were collected at the first visit. In the dental anamnesis obtained from the patient, it was found that his upper anterior teeth were broken as a result of the fall in childhood. The patient has used his teeth until this age, and he has not had any complaints from his teeth except for the aesthetic appearance. In the intraoral examination, fractured maxillary 12-11-21-22 teeth were found vital and noncarious. In addition, the patient's oral hygiene was good, and the periodontal tissues were healthy. Immediately after the examination in the first visit, the impressions of the maxilla and mandible were taken using alginate. In addition, bite registration was prepared with heated dental wax.
Cast models were provided from the impressions and a wax-up model was prepared by free-hand technique. The wax-up model was duplicated, and vacuum sheet was prepared on the stone cast model for mock-up. At the second appointment, the final volume of the provisional restorations was made with temporary flowable composite resin (Systemp.link, Ivoclar Vivadent) using transparent, rigid, and vacuum-shaped sheets (VacuFormer System, Cavex, Haarlem, Netherlands). The patient was able to preview the estimated finished restoration from the provisional restorations. After patient approval of the mock-up (), the first digital impression () was taken on the mock-up from the maxilla with CEREC Omnicam (CAD/CAM, Sirona Dental, Istanbul, Turkey) using the biocopy design mode on the CAD/CAM software. In addition, the patient's photo and digital impression were uploaded to the system, and digital smile design was done on the computer (Figures and ). The smile design was shown to the patient, and reapproval was obtained (). Afterward, preparations were performed over the provisional composite restorations using an operation microscope with a magnification of 40x (Carl Zeiss; Oberkochen, Germany) (). Facial surfaces of the teeth were prepared by making depth-orientation grooves (0.3 mm in depth) with a depth preparation diamond bur (Diatech, Coltène Whaledent, Altstätten, Switzerland). The facial reduction was continued with a tapered rounded-end diamond bur (Diatech) until a flat surface was provided under the microscope (). All sharp edges and corners were smoothened with an extra-coarse aluminum-oxide polishing disk (OptiDisc, Kerr, Orange, CA, USA) to reduce stress concentrations. Minimal invasive preparations with incisal bevel were provided within the enamel for each tooth. When the teeth were prepared the final shape, the teeth were almost uncut ().
After finishing the preparations of the teeth, the second digital impression of the maxilla, as well as the first digital impression of the mandible and occlusal bite registration, were taken with the CEREC Omnicam. The mock-up model was copied to the computer, errors on the copy were corrected manually on the computer, and designs of the restorations were completed (). The mesiodistal and insicogingival dimensions of the restorations were measured on the computer and were corrected. Symmetry between the teeth was achieved. After completing the restoration design, restorations were milled by CEREC Blocs (Sirona Dental). After the intraoral controls, the restorations were glazed ().
A light-curing adhesive resin cement (Variolink Veneer, Ivoclar Vivadent, Schaan, Liechtenstein) was used for the adhesive cementation of the PLVs according to the manufacturers' instructions. The adhesion surfaces of all the veneers were etched with hydrofluoric acid (Vita Ceramics Etch, VITA Zahnfabrik, Bad Säckingen, Germany) for 60 s and subsequently rinsed with water and dried. Monobond S (Ivoclar Vivadent) was applied as a silane for 60 s to the inner surfaces of the veneers. Phosphoric acid (37% Total Etch, Ivoclar Vivadent) was applied to the prepared tooth surfaces including enamel for 30 s and dentine (incisal edge of the left upper central tooth) for 15 s. Adhesive bonding agent (Heliobond, Ivoclar Vivadent) was applied to both the adhesion surfaces of the teeth and the PLVs for 10 s. Resin cement in the selected translucent value (Medium Value 0, Variolink Veneer, Ivoclar Vivadent) was applied to the inner surfaces of the veneers. After these procedures, the PLV restorations were positioned, and excess luting cement was removed with hand instruments and a brush. Before final curing, PLVs were cervically precured for 5 s to remove excess resin cement completely from the cervical and interproximal areas using hand instruments and dental floss without any pressure. For each of the PLVs, these processes were separately made and the PLVs were cemented one by one before the final cure. Final curing was performed according to the manufacturer's instructions for 40 s on each surface (upper- and midbuccal, cervical, mesial, distal, and palatal) with a light-emitting diode polymerizing unit (Elipar S10, 3M ESPE; Neuss, Germany; light output: 1200 mW/cm2). Restoration margins were finished and further polished with extrafine diamond finishing burs (Diatech), polishing cups (Kerr HiLuster Plus, Kerr, Orange, CA, USA), and interproximal polishing strips (Sof-Lex Finishing Strips, 3M ESPE, Seefeld, Germany). Finally, the occlusion was checked in protrusive and lateral movements of the mandible.
PLV restorations produced in a single session with CAD/CAM provided the patient's aesthetic rehabilitation and satisfaction quickly (Figures and ). The patient was recalled after one year, and the restorations were evaluated. PLV restorations were observed to be very good after one year (). |
pmc-6476149-1 | A 34-year-old gravida 2 para 1 at 25 weeks gestation was transferred to our institution from an outside hospital. She complained of a two-week history of progressively worsening orthopnea and shortness of breath that left her unable to perform daily activities. An initial transthoracic echocardiogram obtained at the referring hospital had demonstrated a depressed ejection fraction (35%) as well as mild pulmonary hypertension. The patient was transferred to our institution for further evaluation and management.
Her past medical history was significant for chronic hypertension, class F diabetes mellitus, super morbid obesity with a BMI of 53, and chronic kidney disease. Two years before, she underwent an emergent cesarean delivery at 35 weeks gestation due to preeclampsia with severe features and nonreassuring fetal status. The patient had no previous history of congenital, ischemic, or valvular heart disease. She had no family history of heart disease and never had an echocardiogram before. On admission she required 2 L/min of oxygen per nasal cannula to maintain an oxygen saturation of 95%. The remaining vital signs were within normal limits. Notable findings on the physical exam were presence of S3 and S4 heart sounds, positive jugular venous distention, bilateral crackles on auscultation, and 2+ pitting edema of the lower extremities. A baseline electrocardiogram revealed normal sinus rhythm. Chest x-ray demonstrated pulmonary interstitial edema and bilateral pleural effusions. A transthoracic echocardiogram demonstrated a moderately dilated left ventricle, eccentric left ventricular hypertrophy, and a severely reduced left ventricular systolic function with an ejection fraction of 20-25% as well as global left ventricular hypokinesis. Mitral inflow pattern and tissue doppler were indicative of grade 3 diastolic dysfunction. The right ventricular function was mildly to moderately reduced. The right ventricular systolic pressure was elevated at 50-60 mmHg and there was a moderate degree of pulmonary hypertension. Complete metabolic profile was significant for hyponatremia of 132 mmol/L, hyperkalemia of 5.6 mmol/L, elevated blood urea nitrogen of 35 mg/dL, creatinine of 2.0 mg/dl with an eGFR of 29 ml/min/1.73m(2), and proBNP of 13000 pg/ml. Arterial blood gas analysis showed a significant metabolic acidosis (base excess -10 mmol/L) with partial respiratory compensation. The complete blood count, hepatic function, coagulation, and thyroid hormone panels were normal. Toxicology screen and screen for HIV, syphilis, and hepatitis were negative. Fetal ultrasound showed an intrauterine singleton pregnancy with suspected intrauterine growth retardation and a fetal heart rate of 140 beats per minute. Continuous fetal monitoring via cardiotocography was impossible due to maternal body habitus.
The patient's overall presentation was consistent with acutely decompensated biventricular systolic and diastolic heart failure. Additionally, multiple severe range blood pressure readings were recorded after admission and the patient was diagnosed with superimposed preeclampsia with severe features including systolic blood pressures >160 mmHg and doubling of baseline creatinine. She was started on magnesium sulfate for seizure prophylaxis and a nitroglycerine infusion for blood pressure control. A furosemide infusion was commenced to correct the patient's pulmonary edema and volume overloaded state. Serial preeclampsia labs were drawn every 6 hours to monitor disease progression. Antenatal betamethasone was administered for fetal lung maturation. Due to the acuity of the patient's condition and complex clinical presentation an urgent multidisciplinary meeting was arranged to discuss further plans of care. Specialties present included obstetrics, obstetric anesthesiology, cardiology, cardiac surgery, cardiac anesthesiology, obstetric nursing, transfusion medicine, maternal fetal medicine, and neonatal intensive care.
In light of her rapidly declining functional status due to exacerbated heart failure combined with superimposed severe preeclampsia, it was agreed that she was not a candidate for expectant management and cesarean delivery would be pursued as soon as possible. Due to her worsening cardiac status it was decided to transfer the patient to the cardiac surgery intensive care unit (ICU) for continuous, invasive hemodynamic monitoring, medical optimization, and completion of antenatal steroids prior to undergoing cesarean delivery. Since she was high risk for cardiovascular decompensation upon induction of anesthesia the cardiac surgical team would be present in the operating room and preinduction femoral cannulas would be inserted for emergent venoarterial ECMO institution in the event of hemodynamic collapse.
In the ICU, a right radial arterial line and right internal jugular vein 9 French introducer catheter were placed. A pulmonary artery catheter was inserted. The cardiac output, pulmonary artery pressure, and pulmonary capillary wedge pressure (PCWP) were 6 l/min, 45/25 mmHg, and 20 mmHg, respectively. Despite medical management with a furosemide infusion, maternal condition continued to decline with worsening renal function (creatinine rise from 1.95 mg/dl to 2.59 mg/dl), hyperkalemia, and increasing oxygen requirements. A left internal jugular hemodialysis catheter was inserted and the patient was placed on continuous veno-venous hemofiltration. The goal was to achieve and maintain euvolemia with a central venous pressure and PCWP of less than 12 mmHg. Further management included blood pressure control with a nitroglycerin infusion and an insulin infusion for glycemic control. She remained hemodynamically stable not requiring inotropic or mechanical circulatory support. After 24 hours of medical optimization in the ICU the patient's condition had improved significantly with correction of volume status and satisfactory end-organ perfusion. She was brought to the operating room for repeat cesarean delivery and bilateral tubal ligation.
The patient was premedicated with sodium citrate/citric acid 30 mL liquid PO and metoclopramide 10 mg intravenously (IV). Standard ASA monitors were attached. Invasive blood pressure, central venous pressure, and pulmonary artery pressure were continuously monitored throughout the case. The cardiac surgical team inserted 7 French introducer cannulas into the right common femoral artery and vein under local anesthesia in order to facilitate emergency insertion of ECMO cannulas if needed. After preoxygenation a modified rapid sequence induction was performed using IV etomidate 16 mg, lidocaine 100 mg, remifentanil 80 mcg, and succinylcholine 140 mg. Intubation was successful on first attempt via video-laryngoscope and a size 7 endotracheal tube was inserted. General anesthesia was maintained with sevoflurane, nitrous oxide, and oxygen and was titrated to maintain a bispectral index between 40 and 60. Transesophageal echocardiography (TEE) revealed a dilated left ventricle and an ejection fraction of <25% with severe global hypokinesis. The right ventricle was dilated and mildly hypokinetic. There was grade 3 diastolic dysfunction. The patient remained hemodynamically stable after induction until the baby was delivered 2 minutes after uterine incision. It was intubated and transferred to the neonatal intensive care unit (APGAR 1/5/7). Immediately on delivery, an infusion of oxytocin at 20 units/h was commenced. However, the patient's uterus remained atonic requiring 1000 mcg misoprostol sublingually, 250 mcg carboprost intramuscularly, and 250 mcg carboprost intrauteral. Bimanual compression was held and uterine tone improved thereafter with total estimated blood loss of 1500 ml. Perioperatively, the patient's vital signs included a heart rate 90-112 bpm, blood pressure 128-89/79-54 mmHg, oxygen saturation 92-100%, central venous pressure 12-17 mmHg, pulmonary artery pressure 50-33/36-22 mmHg, and mean pulmonary artery pressure 25-38 mmHg with most of the hemodynamic variation seen after delivery of the fetus. We attributed these hemodynamic changes to a combination of maternal autotransfusion, maternal hemorrhage, and vasodilation associated with the oxytocin infusion. Fluid resuscitation involved 250 ml crystalloid and 250 ml albumin without blood transfusion. The patient was started on infusions of epinephrine (up to 7 mcg/min for inotropic support), norepinephrine (up to 2 mcg/min for pressor support), and milrinone (up to 0.3 mcg/kg/min for inotropic support and reduction of pulmonary vascular resistance) which were titrated to maintain hemodynamic stability and guided by pulmonary artery catheter and TEE monitoring. The cardiac surgeons were present throughout the entire case in the event ECMO needed to be initiated.
Postoperatively the patient was transferred to the surgical ICU intubated on dexmedetomidine 0.5 mcg/kg/h for sedation as well as oxytocin 2.5 units/h. Milrinone, epinephrine, and norepinephrine infusions were continued. The femoral introducer cannulas were left in situ. In the ICU she remained hemodynamically stable and vasopressor/inotropic support was gradually weaned off. She was extubated on postoperative day (POD) 1. CVVH was discontinued and the patient was diuresed with furosemide. Her kidney function recovered to baseline function. There was no evidence of end-organ hypoperfusion. Her cardiac output was 5 l/min without inotropic support. She was decannulated on POD 2, transferred to the telemetry floor on POD 4, and discharged home on POD 8 on guideline-directed medical therapy for heart failure. |
pmc-6476604-1 | A 36-year-old male presented to the emergency department with a chief complaint of back pain and fever. He had a past medical history of HLH diagnosed in October, 2014 and had been treated with etoposide and dexamethasone. He received four cycles of chemotherapy, and the fifth cycle was held due to chemotherapy related pancytopenia. On admission, he was febrile with a temperature up to 102°F. His absolute neutrophilic count was .03 K/uL. Magnetic resonance imaging (MRI) of the thoracic and lumbar spine was done, and no spinal or para-spinal abscess was found. The chest X-ray did not show any acute intra-pulmonary process. He was admitted for the management of neutropenic fever and was started on zosyn and vancomycin. He continued to have spikes of fever during his admission and blood cultures grew Clostridium inoculum bacteria. Also, the patient had a positive Epstein-Barr virus (EBV) deoxyribonucleic acid (DNA) test and cytomegalovirus IgG antibodies. Repeated bone marrow biopsy showed atypical natural killer cell proliferation consistent with aggressive natural killer cell leukemia, hemophagocytic macrophages, and pancytopenia (Figure ).
One week after admission, he started to have shortness of breath and a computed tomography (CT) scan of the chest showed new indeterminate pulmonary nodules in the left lung; the dominant nodule in the left upper lobe was measuring up to 10 mm. The nodules were more likely secondary to an infectious process including fungal pneumonia (Figure ). The patient was started on voriconazole for a possible fungal pneumonia, prophylactic acyclovir, fluconazol, and pentamidine. Three days later, he had severe shortness of breath. Blood work-up was done and showed severe lactic acidosis and hypoxia, so he was intubated and transferred to the medical intensive care unit (MICU) for the management of septic shock. Despite aggressive management in the MICU, his acute decompensation was not prevented, and he did not respond to vasopressors. He unfortunately expired a few hours after the MICU transfer. |
pmc-6476609-1 | A 29-year-old female, a diagnosed case of Laurence Moon Bardet Biedl syndrome since age 10, presented to the medicine outpatient department (OPD) of FFH with a complaint of an undocumented and high-grade fever for the past four days, which subsided on taking acetaminophen. The fever was associated with rigor and chills, as well as a single episode of vomiting in the past 24 hours. She has been known to suffer from co-morbidities such as diabetes mellitus and hypertension since the age of 10. There was no history of hematemesis, diarrhea, or any urinary problems, but complaints of a decreased appetite and occasional nausea were reported. The patient’s diabetes mellitus had always been uncontrolled despite being on insulin for the past 19 years. She was also on anti-hypertensive medication for nearly two decades. Family history revealed that the patient was a product of a consanguineous marriage.
At the time of initial presentation to the hospital, her vital signs were: blood pressure of 150/85 mmHg, heart rate of 75 beats per minute, oxygen saturation of 94% on room air, respiratory rate of 25 breaths per minute, and temperature of 101 degrees Fahrenheit. She was in apparent distress. On physical examination, her abdomen was soft and non-tender and heart sounds were normal. Expiratory crepitations were heard on lung auscultation, due to which a chest X-ray was ordered. On skin examination, there were patchy areas of thickened and darkened skin, reflecting acanthosis nigricans, an indicator of insulin resistance. On visual examination, visual acuity was considerably decreased due to retinitis pigmentosa. The patient was markedly obese, her body mass index (BMI) was calculated to be 33 kg/m2 and she had a characteristic moon-like face (Figure ). She also had an extra digit on her right hand and left foot, indicating polydactyly (Figures -). According to her attendant, she had no regular check-ups and visited the local general practitioner (GP) or hospital only when she got severely sick. They declined any follow-up dates given by health care professionals.
A number of laboratory investigations were carried out; the investigations and their results are shown in Table .
Urine analysis was carried out, which revealed no positive findings. Due to her low hemoglobin, tests for serum iron, B12, ferritin, and reticulocyte count were also carried out, all of which came out to be normal. Only iron came out low, thereby indicating iron deficiency anemia. Due to the threat of cardiac problems in patients with Laurence Moon Bardet Biedl syndrome and due to high blood pressure, electrocardiography (ECG) and echocardiography were ordered, which came out normal. The patient was started on a number of medications, which included acetaminophen for fever, insulin to control her blood glucose, angiotensin-converting enzyme (ACE) inhibitor to control her blood pressure. Aspirin was also given, as well as iron sucrose injection for her iron deficiency anemia. Acute febrile illness (gastroenteritis) was diagnosed, and the patient was started on levofloxacin. On the third day of hospital admission, the patient became afebrile and was discharged the next day. Her attendants were advised to be vigilant in maintaining a normal blood glucose level and blood pressure through regular exercise and medications. |
pmc-6476611-1 | A 69-year-old male, non-diabetic, normotensive, smoker presented with hematuria in November 2016. Magnetic resonance imaging (MRI) pelvis showed intraluminal mass lesion involving the inferior half of urinary bladder, infiltrating its anterior wall, with perivesical extension along with sub-centrimetric pelvic lymphadenopathy. No metastatic disease outside pelvis was seen on positron emission tomography-computed tomography (PET-CT). Transurethral resection of bladder tumour (TURBT) could not be done because of extensive intravesical tumor growth and bleeding. Histopathology showed high-grade urothelial carcinoma. The patient was started on neoadjuvant chemotherapy with gemcitabine and carboplatin (Figures -).
After four cycles, assessment revealed disease progression. PET-CT showed progression in urinary bladder with increase in extent of disease. Apart from urinary bladder, there was progression in left internal iliac lymph nodes largest measuring 3 cm. Internal iliac lymph nodes were increased both in size and fluoro deoxy glucose (FDG) avidity. Single para aortic lymph node measuring 1 cm was also a new finding. Fine needle aspiration cytology (FNAC) done was positive for carcinoma (Figures -).
The patient developed severe pain in pelvic area, hematuria and recurrent urinary tract infection which deteriorated his performance status. The patient was started on palliative radiation to urinary bladder by image guided radiation therapy (IGRT) technique at the dose of 30 Gray (Gy) to urinary bladder and 32 Gy to left iliac lymph node in 12 fractions (Figure ). Programmed Death Ligand 1 (PDL-1) was negative.
After completion of radiation, the patient was started on immunotherapy with nivolumab from August 2017. PET-CT done in December 2017 showed the disease was in complete remission (CR). The patient continues to be on nivolumab with no adverse events. Last assessment done in December 2018 showed that patient is in CR (Figures -). Total progression-free survival (PFS) till December 2018 was 17 months. Overall survival till date is 25 months from the date of diagnosis. |
pmc-6476616-1 | A 59-year-old Caucasian male with a past medical history of auricular malignant melanoma underwent excision of the lesion and sentinel lymph node biopsy at the age of 52. He had lymph node metastasis and underwent neck lymph nodes dissection. At the age of 55, he underwent screening colonoscopy, which showed two polyps in the descending and sigmoid colon. The pathology revealed an adenomatous polyp without dysplasia. He was asymptomatic without anemia, change in bowel habit, or weight loss at the time of the screening colonoscopy. His brother had a history of colon cancer diagnosed at age 62. He does not have Ashkenazi Jewish ancestry. Poster presentation: Laoveeravat P, Wongjarupong N, Suchartlikitwong S, Mingbunjerdsuk T, Vutthikraivit W, El Nawaa S, Smith L, Wachtel M, Islam S. Isolated asymptomatic metastatic melanoma to the colon: a case report. ACG Conference; October 9, 2018.
Two years later, he returned for a follow-up colonoscopy at the age of 57 according to the gastroenterologist's preference. He remained asymptomatic. Laboratory results revealed a normal hemoglobin level of 13.7 g/dL. He was found to have 4x4x2 cm frond-like, polypoid, and ulcerated non-obstructing mass at the hepatic flexure (Figure ). The histological results showed suspected melanoma. He also underwent gastroscopy, which did not show any abnormalities. He underwent a laparoscopic right hemicolectomy and omentectomy. Histologic examination revealed a predominantly mucosal/submucosal mass with brown pigments (Figure ). The brown pigments lay almost entirely in the macrophages. Anaplastic cancer cells showed large, round to ovoid nuclei with large nucleoli, sometimes multiple, often eccentrically placed in amphophilic cytoplasm (Figure ), and cancer cell nucleoli uniformly expressed SRY-Box 10 (SOX10) (Figure ). The SOX10 stain was positive, which was consistent with a diagnosis of melanoma. Moreover, two out of 18 intra-abdominal lymph nodes were positive for malignant melanoma. The immuno-histochemistry and molecular genetics tests were negative for neuroblastoma RAS (NRAS), cytokeratin 7 (CK7), cytokeratin 20 (CK20), p63, chromogranin, thyroid transcription factor-1 (TTF-1), and synaptophysin and positive for c-kit.
Positron emission tomography/computed tomography scan (PET/CT) one month prior to the last colonoscopy did not find areas of increased fluoro-deoxyglucose (FDG) uptake suspected of metastasis but a focal area of increased FDG uptake at the splenic flexure indicating diverticulitis. CT abdomen four months prior to the colonoscopy was normal. The patient was treated with a combination of immunotherapy, including nivolumab and ipilimumab. |
pmc-6476617-1 | History and physical
A 67-year-old male former smoker with a history of prior occupational asbestos exposure and recurrent bronchitis presented with progressive dyspnea and thoracic pain to the point that he could not lie down in bed. A computed tomography (CT) scan of the chest was performed, which was interpreted as right-sided pneumonia with right parapneumonic effusion. He was sent to his local emergency department, where he was admitted for antibiotics and thoracentesis, the latter which demonstrated the presence of atypical mesothelial cells with inflammatory cells. He was readmitted two weeks later for progressive thoracic pain, was found to have a recurrent right-sided pleural effusion, and was managed with partial right pleurectomy with pleural biopsy, and talc pleurodesis. Right pleural pathology demonstrated atypical mesothelial proliferation at the pleural surface, without true invasion or definitive pathologic evidence of malignancy. Following surgery, he felt substantially better, such that he could sleep in the bed again, and he was able to return to his baseline activity levels. He underwent repeat chest CT five months later, which showed right pleural thickening and a small loculated pleural effusion, favored to represent a combination of calcification, pleurodesis, and atelectasis. He remained clinically well for another five months until he presented with cough and sinus congestion unrelieved by guaifenesin, dextromethorphan, and antibiotics. He underwent repeat chest CT that showed extensive mass-like pleural thickening completely encasing the right lung, with prominent involvement of the mediastinal pleura, and probable mediastinal extension into the right paratracheal and precarinal space, with pericardial effusion and probable pericardial metastases. There was no definite invasion into the right chest wall and no evidence of disease outside of the thorax.
He then established care at our institution’s mesothelioma and pleural disease multi-disciplinary program. Pathology review of the previously biopsied pleural tumor revealed that the pleural tumor cells were positive for Wilms' tumor-1 and calretinin, and negative for mouse monoclonal epithelial cell adhesion molecule antibody and thyroid transcription factor-1, consistent with malignant epithelioid mesothelioma, invading fibro-adipose tissue. At the time of consultation, he reported increasing shortness of breath, dyspnea on exertion, intermittent cough productive of clear sputum, 40 pounds of weight loss, drenching sweats, and chest wall numbness near his incision site, although he was still able to perform rigorous exercise on a daily basis. His past medical and surgical histories were otherwise only remarkable for hypertension and inguinal hernia repair surgery, respectively. His family history was notable for mesothelioma in a maternal uncle and breast cancer in a maternal aunt. His exam revealed diffusely decreased right-sided breath sounds, right-sided dullness to percussion, a well-healed right chest wall incision, and an Eastern Cooperative Oncology Group (ECOG) performance status of one. His forced vital capacity (FVC) was 1.88 L (41% of predicted) and forced expiratory volume in one second (FEV1) was 1.54 L (46% of predicted).
He was seen by pulmonology, medical oncology, radiation oncology, and thoracic surgery, with further staging recommended. Fluoro-deoxyglucose positron-emission tomography (FDG-PET) CT was performed and showed extensive mass-like circumferential pleural thickening throughout the right hemithorax which was diffusely fluoro-deoxyglucose (FDG) avid (SUVmax 16.1) and invaded the left hilum with mass effect on the left atrium. It also showed diffuse metastatic nodularity of the pericardium and associated small pericardial effusion. Magnetic resonance imaging (MRI) of the brain was negative for metastatic disease. A repeat chest CT with intravenous contrast re-demonstrating the known disease burden but was concerning for vascular invasion (Figure ). An MRI of the chest showed a 19.4 x 20.8 x 21.5-cm mass in the right pleural space with mediastinal and diaphragmatic invasion. The tumor extended across the midline at the level of the carina, with vascular encasement, segmental esophageal encasement, the involvement of the azygoesophageal recess, and invasion into the superficial right hemidiaphragm. As a result of his clinical American Joint Committee on Cancer primary tumor stage T4 disease due to the mediastinal invasion, he was not a surgical candidate. He opted to enroll in phase I/II clinical trial of front-line pemetrexed/cisplatin chemotherapy in combination with repeated dose intrapleural interferon-alpha gene therapy [].
Intrapleural interferon-alpha immuno-gene therapy details
The patient went to the operating room for surgical creation of a small pleural space in which a pleural catheter was placed, approximately 5 cm below the tip of the right scapula in the lateral chest wall, to facilitate intrapleural infusion of the adenoviral vector for immuno-gene therapy, as per study protocol. The following week, he received his first intrapleural interferon-alpha gene therapy treatment, which he tolerated without complication. Five days later, he presented for his second treatment, at which time he developed sudden tachycardia and electrocardiogram revealed supraventricular tachycardia (SVT) requiring treatment with adenosine. As a result, his second intrapleural treatment was held. The following day, he experienced another episode of SVT with hypotension, for which he again responded to adenosine. He was admitted to the hospital, where a chest CT revealed significant compression of the pulmonary veins and left atrium and transthoracic echocardiogram demonstrated increasing pulmonary hypertension, with mild right ventricular dilation. Cardiology was consulted, who attributed the cardiac symptoms to vascular compression. The options of urgent chemotherapy or radiotherapy were discussed, and radiotherapy was recommended in an attempt to quickly improve symptoms and relieve vascular compression.
Radiotherapy setup and treatment planning details
The patient underwent CT simulation in the supine position with his arms above his head, with a full body vac-lock bag used for immobilization. The isocenter was set at the carina. The primary tumor was contoured using the simulation CT dataset, with the gross tumor volume (GTV) defined as all visible tumor on the simulation CT images. A 0.8-mm expansion to account for the microscopic disease was added to the GTV to generate the clinical target volume (CTV). The planning target volume (PTV) was generated as a 0.5-cm uniform expansion on the GTV. The plan was designed to treat the PTV to a dose of 30 Gy in 10 daily fractions using a forward-planned, field-in-field, three-dimensional conformal radiotherapy (3D-CRT) technique. A two-field technique was used with 15-MV anterior-posterior and posterior-anterior beams and multi-leaf collimation (MLC) to spare dose to bone, heart, liver, and kidney. Image-guided radiotherapy, with daily pre-treatment kV-kV scans, was used to optimize patient alignment and target localization. The treatment volumes and plan are depicted in Figure .
Radiotherapy course
His treatment was tolerated well overall, without any unplanned breaks. His pre-radiotherapy dyspnea improved rapidly during treatment, such that he no longer required supplemental oxygen by the second week of treatment. He developed acute grade two dyspepsia, managed with omeprazole, as well as grade two dysphagia, cough, fatigue, and constipation. His ECOG performance status improved from three at the start of radiotherapy to two at the end of radiotherapy.
Post-radiotherapy course
Two days after completion of radiotherapy, he was started on systemic therapy with intravenous pemetrexed (500 mg/m2) and cisplatin (75 mg/m2). Six days after cycle one day one of chemotherapy, he noted severe radiation esophagitis and weight loss, prompting hospitalization, during which time he required nasogastric tube (NGT) feeds and opioid analgesia. His symptoms improved over that week, and his NGT was removed. He received cycles two and three of chemotherapy, 21 days apart, with post-cycle three chest CT showing dramatic interval response to therapy, with a representative mass in the right paratracheal region measuring 1.2 x 8.5 cm, previously 3.9 x 9.1 cm two months prior (Figure ). He continued with another three cycles of chemotherapy, with repeat chest CT after cycle six showing ongoing interval improvement of multiple pleural masses, with profound response in the ipsilateral treated hemi-thorax, and no evidence of contralateral pericardial disease. Overall, he tolerated these six cycles of systemic therapy well and reported improvements in energy level, appetite, breathing, and odynophagia.
The patient then opted to enroll on a randomized trial of maintenance pemetrexed versus observation following completion of six cycles of first-line therapy [NCT01085630], and he was randomized to the pemetrexed arm. He continued on pemetrexed monotherapy (500 mg/m2) for a total of eight cycles, every 21 days, over the next seven months. Following maintenance cycle two, his chest CT showed ongoing stable disease (Figure ). He tolerated this well initially, with occasional fatigue, anemia, ankle edema, and cough. During cycle four, he reported some productive cough and worsening dyspnea on exertion with subsequent chest CT scan revealing increasing multifocal opacities involving nearly all lobes of the lung. These imaging findings were favored to represent infection versus delayed radiation pneumonitis versus chemotherapy-induced pneumonitis, for which he was managed with levofloxacin and prednisone, with significant improvement of symptoms. He initially clinically improved on this therapy, however ultimately required admission to the intensive care unit following cycle six for septic shock attributed to right-sided pneumonia, which improved with volume resuscitation, antibiotics, and steroids. His CT chest at the time of admission demonstrated a stable burden of mesothelioma. After discharge home, the patient continued with cycles seven and eight of pemetrexed but was admitted about one month after his final cycle for worsening lower extremity edema, dyspnea, and orthopnea that was only partially responsive to intravenous diuretics. His chest CT at this time showed increasing consolidation in the right lung, with stable pleural thickening, but with an increasing left-sided pleural effusion without pleural thickening. Given a negative workup by cardiology, and a lack of other clear explanations for his symptoms and contralateral effusion, this clinical worsening of symptoms was favored to represent disease progression, and he was switched to treatment with gemcitabine (1000 mg/m2), of which he received two cycles of therapy.
Unfortunately, in the first few weeks following gemcitabine therapy, he developed progressive shortness of breath and performance status decline. Reimaging confirmed that he had further progressive disease. Systemic therapy was stopped, and he was transitioned to outpatient hospice. He passed away comfortably three months later. |
pmc-6476618-1 | A six-month-old, exclusively breastfed male, weighing 7.1 kg was admitted to the pediatric ward of Dr. Ruth KM Pfau, Civil Hospital Karachi (CHK) with a three-month history of nodules and a two-day history of respiratory distress. The patient was asymptomatic three months back, when his mother noted formation of multiple nodules on his trunk (Figure ) and face. It was initially diagnosed as nodular scabies by a dermatologist because of its high frequency in our community and similar rash. Anti-scabies treatment was prescribed but as the number of nodules increased to involve the entire body including both extensor and flexor surfaces, he was hospitalized for evaluation. Presence of nodules was not associated with joint pains, vomiting, or diarrhea. There was no family history of similar disease. Other differential considered now for the skin lesions was one of the varieties of histocytosis type IIa including juvenile xanthogranuloma, xanthoma disseminatum, and progressive nodular histocytosis.
On examination, at the time of admission, patient was irritable showing signs of respiratory distress. He had a temperature of 101°F, respiratory rate of 60 beats/min, heart rate of 110 beats/min, and oxygen saturation of 96% with normal anthropometry. Auscultation of the chest revealed bilateral expiratory wheezes all over the chest. He also had multiple oval nodules all over his body, varying in size from 1 to 1.5 cm, discrete, firm, erythematous, and nontender with hyperpigmented margins and smooth surface. They were mostly distributed on trunk and face. On stroking the individual lesion, there was formation of wheal and erythema (Positive Darier’s Sign) thus suggesting the diagnosis of mastocytosis.
Laboratory investigations showed an almost normal complete blood count (CBC) with hemoglobin of 10 g/dL, mean corpuscular volume (MCV) of 71.2 fl, mean corpuscular hemoglobin (MCH) of 25.3 pg, and mean corpuscular hemoglobin concentration (MCHC) of 35.5 g/dl. Hematocrit (Hct) was 26.2%, total leucocyte count (TLC) was 10,000cells/cumm, and platelet count was 210,000/µmL. He had a normal blood urea nitrogen (BUN) of 5 dl/L, a normal serum creatinine of 0.2 mg/dL, and normal serum electrolytes with sodium of 139 mEq/L, potassium of 4.7 mEq/L, chlorine of 104 mEq/L. Serum tryptase and serum and urine histamine levels were also performed and found to be within normal range thus ruling out the possibility of systemic mastocytosis. To confirm the diagnosis of mastocytosis it was decided in consultation with the dermatologist to go for the histopathological examination of the nodule and thus biopsy of the nodule was performed. Histopathological examination showed diffuse infiltration of mast cells in the form of a broad band under the epidermis, depicting consistency with mastocytosis. Patient was put on oral prednisolone in a dose of 2 mg/kg once daily for four weeks, which improved the child’s condition with regression of the nodules. After steroids prescription multiple follow-up has been done and the child is still in remission. Parents were counseled to avoid scrubbing and massaging of the skin which may lead to worsening of the lesions.
Chest X-ray, which was done for his respiratory symptoms revealed hyperinflation of lungs with flattening of the diaphragm, horizontal ribs, and increased hilar bronchial markings (Figure ). On the basis of his respiratory findings and chest X-ray the patient was diagnosed as having bronchiolitis and was treated with antipyretic and bronchodilator therapy using ipratropium bromide ( 0.25 mg NEB q20min x three doses) nebulization initially, followed by oral terbutaline which resulted in subsequent improvement in his respiratory symptoms within four days. Patient is doing well two weeks post discharge. |
pmc-6476621-1 | A 93-year-old male presented to the emergency department (ED) after experiencing a witnessed mechanical fall at home. In the weeks leading up to the fall, the patient had been treated for a urinary tract infection (UTI) with a course of antibiotics. After the initial diagnosis of UTI, the patient experienced over eight episodes of watery, non-bloody diarrhea a day. The patient’s past medical history was significant for longstanding Crohn’s colitis, complete heart block, hypertension, and a seizure disorder. At the time of presentation, the patient was only taking his home medications, which were atorvastatin 40 mg daily, ezetimibe 10 mg daily, lisinopril 40 mg daily, amlodipine 5 mg daily, phenytoin 300 mg daily, acetaminophen 650 mg daily, vitamin B1 100 mg daily, vitamin D3 1000 units daily, and mesalamine 2.4 grams daily.
While in the ED, the patient had a temperature of 100.4 degrees Fahrenheit. Physical exam was significant only for mild suprapubic tenderness. On laboratory studies, the patient had an elevated white blood cell count of 11,200 uL and acute kidney injury (AKI) with a blood urea nitrogen and creatinine of 32 mg/dL and 1.7 mg/dL (baseline creatinine of 1.0 mg/dL), respectively. A Foley catheter was placed and subsequent drainage was significant for feculent material. Urine cultures grew over 100,000 colonies of Escherichia coli, over 1000 colonies of Enterococcus casseliflavus, and over 1000 colonies of Enterococcus enterodurans. The patient’s blood cultures remained negative throughout his hospitalization. He was started on ceftriaxone and metronidazole for his urinary infection and once his AKI improved, he underwent computerized tomography (CT) abdomen and pelvis with oral and rectal contrast. The CT scan showed evidence of a sigmoid EVF with intraluminal gas and diffuse wall thickening of the bladder (Figure ). Due to concern for fistulization between the sigmoid colon and the bladder, the patient underwent a flexible sigmoidoscopy. The study found an approximately 24 mm fistula opening in the sigmoid colon leading to the bladder (Figure ). Biopsy of the fistula showed a pyogenic granuloma with urothelial nests concerning for possible squamous carcinoma of the bladder (Figure ). Due to the patient’s comorbidities, it was decided against surgical intervention for fistula closure or colostomy diversion, and he was discharged once his AKI further improved and his diarrhea ceased. |
pmc-6476626-1 | A 43-year-old, nonsmoker, Caucasian male presented in July 2007 for a voluntary baseline cardiopulmonary stress test. He felt that he was “in good shape” and wanted to obtain an objective assessment to confirm his impression. Remaining physically active, he also followed an exercise regimen of mild weight training thrice a week and indoor rock climbing once a week. Though never a competitive athlete, he did well in high school track and field events but never pursued this to a higher level. Weight was stable at approximately 165 lbs (75 kg) at a height of 71.5 inches (182 cm) with a body mass index (BMI) of 22.7 kg/m
2
. These parameters were unchanged over the course of the study (± 1 kg). Diet was pescetarian, he denied any alcohol or tobacco use and supplemented only with multivitamins at the beginning of the evaluation period. He was taking no medications and was under no physician's care for any medical problems. There was a possible history of exercise induced asthma which, in fact, was demonstrated through the testing but did not limit his activity.
As this was initially a personal evaluation of his health metrics, no institutional ethics or study registration/disclosures were required. The patient was tested using a bicycle ergometer protocol available at the performance laboratory. He was monitored for blood pressure, pulse, subjective intensity using a modified Borg's scale, oxygen saturation, cardiac rhythm as well as the closed loop pulmonary function testing equipment. The initial protocol involved a ramping increment of 20 W/minute increasing until exhaustion. His effort was excellent and followed the protocol assiduously. Work capacity (VO
2
max) was calculated at 27.6 mL/kg with a normal anaerobic threshold. Total wattage was 299. The forced expiratory volume (FEV) 1% fell by 12% suggesting mild obstructive pulmonary disease. Blood pressure was escalated to 220/100 over the course of the testing. He reached 103% of maximal calculated heart rate.
Since the result was significantly discordant to his expectation, he elected to start a training regimen to see if he could improve his results on future testing. Following the suggestions of the consulting cardiopulmonary physician, a program was designed incorporating 20 minutes of jogging thrice a week keeping his heart rate at approximately 140 bpm. He also continued the 90 minutes of rock climbing once a week. Finally, thrice a week, he started weight lifting at a higher intensity level than previously for 20 minutes per session. No type of exercise was done 2 days consecutively. Diet remained the same.
After 6 months of training, a repeat testing was done on the same equipment. The ramping protocol was set at 25 W per minute. There was a similar blood pressure escalation with maximal exertion. His VO
2
max improved to 32.9 mL/kg. This represented a 19% improvement over baseline.
Further restructuring of the training protocol included increasing the running target heart rate to between 140 and 160 bpm. Some longer runs were added as well as a few bicycle interval workouts but these were infrequent. The patient remained compliant to instructions. There was no change in the rock climbing and weight training exercises.
The third test, now 1 year later, showed a blood pressure rise to a maximum of 206/92. VO
2
max was measured at 42 mL/kg; a 52% improvement. The ramping protocol was the same as was the equipment.
In an effort to improve his results further, additional training modifications were instituted. Though the total volume of exercise was unchanged, intensity was further increased. On the run days, 1 day per week was designated as an interval training day done in the following fashion: 2 minutes of high intensity (up to 104% of maximal calculated heart rate) followed by 2 minutes of recovery (less than 67% of maximal calculated heart rate) in an alternating fashion for 22 minutes per session. The other 2 days per week involved keeping the heart rate just under anaerobic threshold for the full 22 to 26 minutes of training. In this patient's situation that calculated out at 162 bpm. The weight training and rock climbing protocols were left unchanged. This continued for 6 months.
On the next test, on a Cardinal Health Encore 229 unit with Cardiosoft coupled to a Ergoline pedal ergometer on a 25 work watt per minute ramping protocol 18 months after initiation of evaluation, his VO
2
max was found to be at 50.7 mL/kg/min representing a 84% improvement over baseline. Maximal blood pressure was 212/95, maximal heart rate was 181 bpm or 106% of calculated maximum and work watts were 309.
Final testing was done 6 months later after continued training without a significant change in volume or intensity. Using the same protocol, the VO
2
max returned a value of 54.1 mL/kg/min and work wattage at 318. Over the course of the 24 months of testing, there was a 96% improvement in VO
2
max. |
pmc-6476798-1 | 70 years old female was admitted to the hospital with epigastric pain, fevers and elevated white cell count. Abdominal CT scan demonstrated evidence of duodenal diverticulitis and she was started on broad-spectrum IV antibiotics (). Overnight, her clinical condition had worsened with persistent tachycardia, increase in white count, fevers and signs of peritonitis on exam. Interval CT revealed significant amount of air and fluid in the abdomen concerning for free perforation. Patient was consented for exploration and possible pancreatoduodenectomy. During surgery, large perforation of the 4 cm juxtapapillary duodenal diverticulum originating from posterior-medial wall with peritonitis was found (). Due to very medial location in close proximity to insertion of the ampulla, segmental resection was not possible and decision was made to proceed with pancreatoduodenectomy. Pathology confirmed perforation originating from duodenal diverticulum with no additional abnormal findings. Patient tolerated procedure without complications and was discharged home after 10-day hospital stay. She is doing well at 2 months follow up and has returned to work. |
pmc-6476892-1 | While riding a bicycle, an 18-year-old man (height, 165 cm; weight, 60.3 kg) collided with another bicycle coming from the left side. The right handlebar of his bicycle hit his groin. Although the numbness of the right lower limb that began immediately after the impact gradually improved, the patient was admitted to our hospital with right inguinal pain and swelling. Consistent with subcutaneous hematoma, the colors of the right and left leg were similar in the resting state; however, the right leg became pale after walking and he noticed mild claudication. There was no palpable pulse in the right pedal artery, but flow was recognized by pulse Doppler ultrasound. Contrast computed tomography (CT) for the evaluation of bone fracture or active bleeding revealed vascular occlusion extending from the right EIA to the CFA (Fig. ). There was a contrast effect in the distal CFA just before the branching of the superficial and deep femoral arteries and the collateral circulation. A duplex scan showed no flow in the right EIA and small flow in the distal CFA. The right ankle–brachial index (ABI) was 0.50. Laboratory examination showed an elevated creatine kinase (CK) level of 1302 IU/L and slightly elevated glutamic oxaloacetic transaminase level of 43 IU/L. Glutamic pyruvic transaminase, lactate dehydrogenase (LDH), and potassium were normal with levels of 28 IU/L, 197 IU/L, and 4.5 mEq/L, respectively. With respect to inflammatory reaction, the white blood cell count and C-reactive protein level were slightly increased at 9630/μL and 0.87 mg/mL, respectively. The pathological state was similar to acute limb ischemia, and Rutherford classification was category I. However, the severity was not considered urgent as the Doppler detected pedal artery flow and the duplex scan detected CFA flow, both indicating that the blood flow to the right lower limb was maintained by collateral circulation. Although CK level was highly elevated, we did not consider emergent surgical treatment as other parameters were normal or only slightly elevated. Moreover, the patient hesitated the surgical treatment at that time. For these reasons, we decided to see the course for a while with conservative treatment, and heparin administration was started. The next day, contrast CT revealed the extension of the contrast effect in the EIA and no change in the obstruction of the CFA, whereas the duplex scan showed findings similar to that shown on the previous day. The lack of response to conservative treatment prompted surgical revascularization with thrombectomy and femoral artery repair, as well as patient’s surgical consent.
Although the thrombus occlusion was seen in the EIA and CFA segments, judging the bruise site, we considered the CFA segment to be the main injury site. However, the possibility that the injury was also extended to the EIA segment could not be ruled out. Thus, we planned to perform an open surgery and decided to include the pararectal incision and follow the extraperitoneal approach to detect the exact extent of the injury in case the injury site was more proximal than the CFA. Intraoperatively, the CFA had a dark red color extending from the site of injury immediately below the inguinal ligament distally to just before the branching of the superficial and deep femoral arteries. No pulse was felt. A longitudinal incision of the CFA revealed a thrombus in the vascular lumen. The intima was nearly absent at the CFA injury site and was dissected on both the proximal and distal sides (Fig. a). The thrombus on the proximal side was removed with a Fogarty catheter® (Edwards Lifesciences, Irv, CA, USA), and the dissected intima on the proximal side and distal sides was reattached to the adventitia with 6-0 monofilament sutures. It was challenging to perform end-to-end anastomosis due to the long intimal disappearance. Although the adventitia was also damaged, its strength was relatively maintained. Therefore, a patch repair of the CFA was performed with tissue from the great saphenous vein harvested from the same surgical wound (Fig. b). Pulsation of the right pedal artery began postoperatively, and the right ABI improved to 1.05. Contrast CT on postoperative day 7 revealed good patency from the right EIA to the CFA, and the patch repair appeared normal (Fig. ). The patient was discharged on day 8 and has not reported occlusion symptoms, such as numbness of the lower leg. |
pmc-6476904-1 | A 9-years-old spayed female mixed-breed dog was referred for the evaluation of moderate neurological signs. It tended to seek narrow places, experienced body tremors, and had lost its vision 6 months before the referral, although its eyesight had been weakening since 2 years. The owner was provided detailed information on the diagnostic and surgical procedures required, and consent was also obtained. A bilateral menace response was absent on neurological examination, with no other abnormalities. Normal findings were obtained on performing echocardiography and abdominal ultrasound. The left and right adrenal glands measured 56 and 57 mm in length, respectively. Minimal increase in alanine aminotransferase (312 IU/L; reference, 5–60), gamma glutamyltransferase (64 U/L; reference, >9 U/L), and lipase (521 U/L; reference, 24–108) levels, and a moderate increase in the alkaline phosphatase (973 U/L; reference, <280) level was observed on complete blood count, a chemistry panel, and urinalysis. The thyroxine (T4) level was slightly decreased (13.6 nmol/l; reference, 17–54). MRI and computed tomography were recommended for further assessments.
Following intravenous cannulation, the dog was anesthetized using propofol injection (5 mg/kg body weight [bwkg]; Narcofol®, CP-Pharma GmbH, Burgdorf, Germany). After intubation, anesthesia was maintained with a mixture of isoflurane and oxygen gas (Forene®, AbbVie Deutschland GmbH & Co. KG, Wiesbaden, Germany; 1.5% volume/volume; oxygen flow, 2 1/min). MRI was performed using a 1.5-T device (Siemens Magnetom Avanto, Siemens, Erlangen, Germany) to acquire the following sequences: T2W images in the transverse (echo time [TE]/repetition time [TR], 112/4,220 ms; slice thickness [SL], 3 mm), sagittal (TE/TR, 112/3,500 ms; SL, 3 mm), and dorsal (TE/TR, 112/3,500 ms; SL, 3 mm) planes; thin-slice native images (TE/TR, 9.1/550 ms; SL, 2.5 mm); fat-suppressed images (TE/TR, 9.1/749 ms; SL, 0.9 mm); post-contrast images (0.2 mL/bwkg; Dotarem 0.05 mmol/l injection, Guerbet, Villepinte, France); T1W three-dimensional images (magnetization prepared rapid gradient-echo) in the sagittal, transverse, and dorsal planes; and time-of-flight angiography (TE/TR, 7/25 ms; SL, 0.7 mm). The field of view was 170 × 170 mm.
During the same session, native, and post-contrast computed tomography images of the brain were obtained using an inner ear (SL, 1.0 mm; kernel, H60s; SL, 0.75 mm; kernel, H70h) and carotid angio (SL, 2.0 mm; kernel, B30f; SL, 0.6 mm; kernel, B26f) protocol, followed by maximum intensity projection reconstructions in the dorsal plane.
An intra- and suprasellar mass was observed on MRI (). The intrasellar portion appeared iso- and hyperintense on T2W images, and hyper- and hypointense on T1W images, with marked contrast enhancement along the dura mater. A multicompartmental cyst-like component was attached to the mass; this component showed T1 hypointensity and T2 hyperintensity, and compressed the thalamus and pons in the caudal direction. The optic chiasma was also compressed in the cranioventral direction. The cystic structure showed late enhancement, particularly in the fluid-filled areas. The size of the cyst was 16 × 18 × 14 mm. The radiological diagnosis was an intra- and suprasellar lesion connected to a multicompartmental fluid field. Differential diagnoses included suprasellar arachnoid cyst, epidermoid cyst, craniopharyngioma of the pituitary gland, and myxomatous tumors.
Preoperative three-dimensional planning was performed using MeshMixer (AutoDesk, Inc., San Rafael, CA, USA) and Amira for LifeSciences 6.0 software (Thermo Scientific, Waltham, MA, USA) for identification of the landmarks for the surgical approach, and measurement of the exact volume and extension of the lesion. During surgery, the dog was placed in sternal recumbency, and its mouth was held open with a special equipment. Videoendoscopy was used for better visualization (Karl-Storz 2.7 mm 30° optic kit, 6703BA, Tuttlingen, Germany). Fentanyl (5 μg/bwkg; Richter Gedeon, Budapest, Hungary), dormicum (0.05 mg/bwkg; Egis Pharmaceuticals PLC, Budapest, Hungary), and ketamine (CP Ketamin 10% AUV; Medicus Partner, Hungary) were used as premedication before anesthesia induction using propofol (5.5 mg/bwkg; propofol 1% MCT/LCT; Fresenius Kabi AB, Bad Homburg, Germany). Anesthesia was maintained with a mixture of isoflurane and oxygen gas (Isoflutek 1,000 mg/g, 1.5% volume/volume; Laboratorios Karizoo SA, Barcelona, Spain). The buccal hair was removed, and the mouth area was disinfected using chlorhexidine (Curasept Chlorhex 30 mL, 0.5% spray, Curaden Swiss, Marleston, Australia). Subsequently, the soft palate was incised in the midline using an electrocautery device, and a hole was drilled into the basisphenoid bone according to the preoperatively determined landmarks. Under continuous endoscopic guidance, the hole was enlarged until the medial edges of both cavernous sinuses were visible around the pituitary gland. The cyst was drained and the entire pituitary gland was removed along with a part of the cyst wall. The opened third chamber was visible after complete gland removal. The bone defect was closed using a special bone reconstruction and anticoagulant sponge (Cerasorbe Foam; Curasan AG, Kleinostheim, Bayern, Bavaria, Germany), and the soft palate wound was closed with monofilament absorbable sutures (Surgicryl, SMI AG, Hünningen, Belgium).
During and 24 h after surgery, strict monitoring and tests were conducted at 1-h intervals. Examinations included measurement of the body temperature, blood pressure, acid-base status, electrolyte status, urine specific gravity and volume, heart and respiratory rates, blood lactate and glucose levels, and tear production. No abnormalities were noted.
Substitution therapy was initiated immediately after surgery. This included intramuscular hydrocortisone injections (Solu-Cortef 1 mg/bwkg TID; Pfizer, New York City, NY, USA) and desmopressin eye drops (Nocutil 0.1 mg/mL spray, one drop TID; Gebro Pharma GmbH, Fieberbrunn, Austria). A buprenorphine injection (Bupredine Multidose 0.3 mg/mL, 0.03 mg/bwkg; Produlab Pharma B.V., Raamsdonksveer, Netherlands) was administered every 6 h, while an amoxicillin-clavulanic acid injection (Augmentin 1000/200 mg, 20 mg/bwkg; GlaxoSmithKline Pharmaceuticals, Ltd., Brentford, UK) was intravenously administered BID for 3 days. The surgery and the first post-operative day were uneventful.
One day after surgery, MRI was performed using the same 1.5-T scanner (Siemens) to acquire the following sequences: T2W fast spin echo images in the transverse (TE/TR, 83.3/3,920 ms; SL, 3 mm) and sagittal (TE/TR, 96.5/4,500 ms; SL, 3 mm) planes; T2W fluid-attenuated inversion recovery images in the dorsal plane (TE/TR, 127.4/8,002 ms; SL, 3 mm); T2W gradient recalled echo images in the horizontal plane (TE/TR, 20/620); T1-weighted spin echo images in the sagittal plane (TE/TR, 15/240 ms; SL, 2 mm); post-contrast images (0.2 mL/bwkg; Dotarem 0.05 mmol/l injection, Guerbet, Villepinte, France); and three-dimensional T1W images (magnetization prepared rapid gradient-echo) in the sagittal, transverse, and dorsal planes. The sella turcica and cyst were both empty, although the cyst walls showed contrast enhancement on post-contrast images ().
Cytological analysis of the surgical specimen indicated a high probability of a neuroendocrine or ependymal origin of the mass.
The presence of normal adenohypophyseal tissue was observed on histopathological analysis of hematoxylin- and eosin-stained slides; intact acidophilic, basophilic, and chromophobe cell populations; acute hypophyseal hyperemia; and dilatation of the intrahypophyseal vessels filled with erythrocytes. Immunohistochemical examination of the intact adenohypophyseal cells showed diffuse, intense, homogeneous cytoplasmic synaptophysin-positivity; multifocal, intense, homogeneous cytoplasmic pancytokeratin-positivity; and Ki-67-negativity. The intact endothelial cells in the intrahypophyseal vessels showed diffuse, intense, homogeneous, and membranous CD31-positivity.
No abnormalities were observed on neurological examination performed on the first post-operative day, and 2 days after hospitalization, the dog regained vision in both eyes.
Normal tear production was observed on Schirmer's test. The dog was discharged 3 days after surgery. Oral administration of prednisolone (Prednisolon-Richter 5 mg, 1 mg/kg BID; POS Richter Gedeon), desmopressin eye drops (one drop TID; Gebro Pharma GmbH), oral amoxicillin-clavulanic acid (Synulox 250 mg BID; Zoetis, Parsippany-Troy Hills, NJ, USA), and oral levothyroxine sodium (L-thyroxin Henning 100 μg, 15 μg/bwkg BID, Sanofi Aventis, Paris, France) were continued at home.
Blood and urine tests were repeated at 1, 5, 10, 20, and 25 days after surgery. Moderate increase in alanine aminotransferase (mean, 315 IU/L), gamma glutamyltransferase (mean, 71.7 IU/L), lipase (mean, 1,871 IU/L), and alkaline phosphatase (man, 1,173 U/L) levels was observed in complete blood count, a chemistry panel, and urinalysis. The T4 level slightly decreased (8.7 nmol/l) in the initial post-operative period, although it normalized by day 25 (20.2 nmol/l).
However, the dog presented with the same preoperative signs and symptoms 73 days after surgery, exhibiting obtundation and depression, and a tendency of seeking tight spaces again. No other problems were observed on neurological examination, and normal findings were obtained on thoracic radiography and abdominal ultrasound. Regrowth of the cyst to its original size was apparent on MRI, and was compressing the surrounding structures (). Because of the poor prognosis and worsening clinical signs, the owner requested euthanasia.
Macroscopically, the location of the cyst was accurately identified on the formalin-fixed brain ex situ (). The wall of the intracerebral cyst consisted of a thin external layer of astrocytic glial tissue, as observed on histopathological analysis of hematoxylin- and eosin-stained slides prepared from the brain sample obtained during necropsy, and internal single and multifocally double layers of ciliated, cuboidal-to-flattened, ependyma-like cells. Positivity of the cyst wall for glial fibrillary acidic protein, S100 protein, and vimentin, and negativity for synaptophysin and epithelial membrane antigen was observed on immunohistochemical examination. Thus, the final diagnosis was ependymal cyst. |
pmc-6477099-1 | A 14-year-old female with chronic rhinosinusitis and lung disease with bronchiectasis was referred for immunologic investigation in São Paulo, Brazil. She had a history of chronic cough with recurrent wheezing since birth with prolonged use of antimicrobials for lower and upper respiratory tract infections, oral candidiasis and stomatitis. She had one episode of pneumonia and she was never hospitalized. She is an offspring of non-consanguineous parents. One of her sisters died with leukemia at the age of 9 months, and her mother experienced recurrent pneumonias and otitis media in childhood.
At 8.5 years of age, pulmonary symptoms worsened, bronchiectasis was detected on computed tomography and pulmonary function assessment showed mild obstructive lung disease. Cystic fibrosis and ciliary dyskinesia were excluded. She was treated with inhaled corticosteroids, azithromycin and chest physical therapy for 2 years with poor clinical response.
Immune evaluation was performed at several time points in the period of 8.5–14.3 years of age (, ). Total lymphocyte count was grossly preserved. Immunoglobulin (Ig) levels were variable with low IgA, low to normal IgG and low to high IgM initially. By 10 years of age, laboratory evaluation showed low levels of all Ig isotypes and low CD4+ and CD8+ T cells with low fraction of CD45RA+ naïve cells and skewing to activated memory T cell phenotype. Lymphocyte proliferation was normal with mitogens but impaired with antigen stimulation (). As Ig levels decreased, treatment with intravenous Ig (IVIG) was initiated at 11 years of age (). There was no evidence of protein loss. The B cell developmental subsets were significantly skewed with a marked decline in the switched memory B cell compartment (). B cell dysfunction is also reflected by decreased total IgG, IgM, and IgA levels with increased age (). Anti-thyroglobulin and anti-thyroperoxidase antibodies were persistently positive with normal thyroid function.
Regarding infectious complications, symptoms of respiratory infections improved on intravenous immunoglobulin G (IVIG) replacement therapy. However, recurrent candidiasis continued to occur as well as episodes of oral ulcers. At 13 years of age, she was hospitalized with bilateral pneumonia and stomatitis with positive polymerase chain reaction (PCR) for herpes simplex virus (HSV) on oral lesion biopsy. She responded well to intravenous antibiotics and acyclovir. Persistently, Epstein-Barr virus (EBV) and intermittently, cytomegalovirus (CMV) viral loads were detected without obvious clinical manifestations of lymphoproliferation or acute viral distress since 11.8 years for EBV and 13.4 years of age for CMV (). A progressive increase in CD8+ T cells, B cells (CD19+) and natural killer (NK) cells (CD16+CD56+) was noticed in the same period (). Testing at 14 years of age revealed the presence of antibodies targeting interferon-alpha (anti-IFN-α) ().
Genetic studies using targeted sequencing of 16 SCID genes identified a heterozygous compound variant in RAG2 (c.509A > G: p.E170G and c.829insT, p.Y277fs) in the coding regions. Both components of the compound variant were novel. The heterozygous variant was confirmed by Sanger sequencing. The c.509A > G, p.E170G variant was present in the mother. The father was unavailable for study.
Based on prediction analysis and structural modeling, it is expected that the mutated RAG2 allele with Y277fs will not contribute any recombinase activity as truncation of RAG2 further than amino acid 350 leads to a non-functioning protein that is unlikely to form any complex with RAG1 (). Mutation in the RAG2 E170 is likely important in RAG1/2 dimerization as it contacts an arginine residue in RAG1 (R561). Mutation of RAG1 R561 to histidine has been previously reported in Omenn patients and shown to have reduced DNA binding and cleavage activity, but retains some activity in vitro (). Therefore, we predicted that RAG2 E170G will perform all of the recombinase activity in the patient.
The relative recombinase activity of the RAG2 variants in vitro individually and in a bi-cistronic system was tested using methods previously reported (). The relative recombinase activity level of the protein expressed by RAG2 p.E170G variant was 14.2% ± 1.6 standard error of mean (SEM) whereas the p.Y227fs variant had zero activity and their combined activity was 16.2% ± 2.5 SEM in an in vitro system (). Thus, the RAG2 E170G variant solely contributed to the partial recombinase activity of the patient.
Although considered, the family elected to wait with hematopoietic stem cell transplantation. Regarding donor selection, there is no matched sibling available and we await results of human leukocyte antigen testing to search for a matched unrelated donor. |
pmc-6477102-1 | We report a rare case of IVC aneurysm in a 22-year old Afghan-Iranian male patient. The patient had a history of blunt abdominal trauma one week prior to his referral to the emergency department of our center. On his initial abdominal trauma, a complete physical examination and focused assessment with sonography for trauma (FAST) was done. The investigations were normal and the patient was discharged from the emergency department. The patient has had vague abdominal pain after his discharge.
On the referral of the patient to our center, we planned an abdominopelvic computed tomography (CT) scan with oral and IV contrast. The scan illustrated an IVC saccular aneurysm originating from right side of the IVC below the renal veins (). We assumed two possible etiologies. The aneurysm could incidentally and in another hand it could be related to the patient’s recent history of abdominal trauma. Magnetic resonance venography was also conducted and it also confirmed the diagnosis of a saccular type III IVC aneurysm ().
We planned open resection and repair of the aneurysm. A midline laparotomy was done. After thorough exploration of the abdominal and pelvic cavities, a right medial visceral rotation was conducted by mobilization of the right colon and a Kocher maneuver (The Cattel-Braasch Maneuver). The right kidney was left in situ. The entire sub-hepatic IVC was exposed. A saccular aneurysm with dimensions of 4*5 cm was found on exploration (). The aneurysm was located below the renal veins and the neck of the aneurysm was at the right side. The aneurysm was confined to the infrarenal IVC and there was not any associated venous anomaly. Thus, it was a type III saccular IVC aneurysm. A partial Satinsky clamp was applied posterior and left to the site of aneurysm origin on IVC and a longitudinal incision was done anterior to the neck of the aneurysm. Then, the entire aneurysm was resected. The neck of the aneurysm was closed with lateral venorrhaphy by running 6.0 polypropylene sutures ().
The patient had well recovery after the operation. Postoperative anticoagulation was administered by unfractionated heparin and warfarin. Warfarin anticoagulation was continued for three months to prevent venous thrombosis and probable pulmonary embolism. The patient’s follow-up did not reveal any morbidity. Postoperative CT scan was also conducted on seventh postoperative day. Postoperative appearance of IVC was normal (). |
pmc-6477712-1 | We report the case of a 50-year old female patient, who was investigated for abdominal discomfort. She also had a 2-year history of menorrhagia and dysmenorrhea.
An ultrasound of abdomen showed the presence of a mass in the left upper quadrant, in keeping with a pancreatic mass. A CT and MRI of abdomen and pelvis confirmed the presence of an 8 cm solid and cystic mass in the tail of the pancreas (Fig. a). CT examination confirmed a fibroid uterus, while ultrasound showed the uterus to measure 7.7 × 6.6 × 4.7 cm with a 3 cm partially calcified posterior subserosal fibroid and an adjacent 4.7 cm partially cystic lesion, also deemed to be a fibroid (Fig. b).
A distal pancreatectomy and splenectomy was performed. A 9 cm circumscribed mass with yellow to tan solid and cystic cut surface was present in the tail of the pancreas, and was grossly confined to the pancreatic parenchyma. The mass was extensively sampled.
Histologically, the lesion was lobulated, and predominantly well-circumscribed, but focally infiltrative (Fig. a), and was composed of sheets of uniform spindled to epithelioid cells (Fig. b). The lesional cells had round to oval nuclei, with coarse to vesicular chromatin, visible nucleoli, nuclear grooves and clear to eosinophilic cytoplasm (Fig. c). Prominent arterioles were identified (Fig. d). The stroma was collagenized in areas. Admixed lymphocytes, occasional hemosiderin-laden macrophages, and focal cystic change were present. There was no evidence of nuclear pleomorphism, mitotic activity or necrosis, and there was no evidence of endometriosis. Lymphovascular space invasion was not seen.
Immunohistochemistry showed that the tumor cells were positive for CD10, estrogen receptor (ER), progesterone receptor (PR), Wilms tumor 1 (WT-1; nuclear staining) and smooth muscle actin (SMA) (Fig. ). The tumor cells were negative for other smooth muscle markers (desmin, h-caldesmon) (Fig. ), cytokeratins (AE1/3, CAM5.2), PAX-8, inhibin, and HMB-45.
RNA sequencing was performed using formalin-fixed paraffin-embedded tissue, cut into scrolls (4 cut at 10 μm). RNA was extracted using the ExpressArt FFPE Clear RNA Ready kit following manufacturer’s instructions (Amsbio, Cambridge, MA). The libraries were prepared using 20–100 ng of total RNA with the TruSight RNA Fusion Panel (Illumina, San Diego, CA). Each sample was sequenced with 76 base-pair paired-end reads using an Illumina MiSeq at eight samples per flow cell (~ 3 million reads per sample). The results were analyzed using both the STAR and BOWTIE2 aligners, and Manta and JAFFA fusion callers, respectively. Testing confirmed the presence of PHF1 gene rearrangement (NM_024165.2).
The morphological, immunohistochemical and molecular features were of a low-grade endometrial stromal sarcoma (LG-ESS). Clinical and radiological correlation was required to determine if this lesion represented metastatic endometrial stromal sarcoma (ESS) from a uterine primary, or a rare primary extra-uterine endometrial stromal sarcoma (EU-ESS) of the pancreas, arising in the context of endometriosis. In view of the menorrhagia and dysmenorrhea, the patient underwent a total hysterectomy and bilateral salpingo-oophorectomy 3 months later. Histological examination of the uterus revealed fibroids and the presence of a 5.8 cm LG-ESS with evidence of lymphatic invasion. Thus, the ESS in the pancreas was clearly the result of a metastasis from a primary uterine ESS.
A CT of thorax, abdomen and pelvis performed 2 months post-hysterectomy showed no evidence of recurrent or additional metastatic disease. The case was reviewed by oncologists, and the decision was made to follow the patient with an MRI of abdomen and ultrasound of pelvis every 3 to 4 months for the foreseeable future, without adjuvant therapy. |
pmc-6477713-1 | We report a 30-year-old women, gravida 2, para 1 was referred for an ultrasound examination at 22 weeks gestation for abnormal fetal abdominal dilated cystic lesions. Her family history and prenatal course have been unremarkable.
The ultrasound evaluation revealed very prominent abnormalities over the entire urology system with marked bilateral hydronephrosis, hydroureters and megacystis, with extension of an enlarged cystic and septate lesion in the penis (Fig. ). In addition to the urology lesions, the posterior perineum region show absence of the anal muscle in which an anorectal anomaly was highly suspected (Fig. ). The amniotic fluid was decreased but not yet anhydramnios. Other organ systems did not have detectable ultrasonography anomaly. The parents underwent counseling and decided to terminate this pregnancy because of a poor prognosis mainly caused by the high probability of severe renal and sexual malfunctions. The gross examination of the 465 g fetus confirmed the prenatal diagnosis of megalourethra and imperforate anus (Figs. & ), however, autopsy and genetic study were declined. |
pmc-6477736-1 | A 7-year-old Italian white boy affected by GCPS and ASD was referred to our Child Psychiatry Unit for a neuropsychiatric assessment.
The child, born of non-consanguineous white parents, was born at 40 weeks of gestation by vaginal delivery. A previous spontaneous miscarriage was reported. His birth weight was 3070 g (15–50th centile), length 49 cm (15–50th centile), head circumference 34 cm (15–50th centile), and APGAR Index 9–10. He was born with postaxial polysyndactyly of his hands (right hand had two extra fingers, partial syndactyly of finger 5–6; left hand had one extra finger) and of his right foot (one extra toe), surgically corrected at 6 months of age. In the early perinatal period, due to the observed dysmorphic features, the child underwent brain ultrasound (referred as normal) and genetic counseling without specific indication for subsequent genetic screening.
Motor developmental milestones were normally achieved. A history of language delay was reported: first words at 18 months with a following regression of the verbal development. At around 30 months of age, restricted and repetitive behaviors (RRBs), social withdrawal, lack of pretending game together with poor communicative skills were the main parental worries. Based on these clinical features, at 3 years of age a diagnosis of ASD was made and for this reason he started applied behavior analysis (ABA) behavioral therapy (12 hours per week).
The diagnosis of GCPS was clinically suspected in both the child and his father respectively at 3 and 42 years of age, and later molecularly confirmed through direct sequencing and multiplex ligation-dependent probe amplification (MLPA): “heterozygous for the single nucleotide deletion c.3677del, point mutation paternally transmitted, not previously described, localized in gene’s region associated with GCPS, resulting in a truncated GLI3 protein caused by the frameshift mutation and the insertion of a premature stop codon (Pro1226Glnfs4)” (see Fig. for the chromatogram).
Asymmetry of the ventricular supratentorial system (right major representation) and lateral deviation of a septum pellucidum were present on brain magnetic resonance imaging performed at 6 years of age; whereas a routine and sleep-induced electroencephalogram recorded diffused paroxysmal abnormal activity during the falling asleep phase and decreasing during sleep.
No history of clinical seizures was reported. Sleep/wake cycle was regular. Food selectivity was reported since 30 months of age.
On our clinical examination at 7 years and 5 months of age, he weighed 26 kg (50–85th centile), his height was 126 cm (50–85th centile), and his head circumference around was 54.3 cm (98th centile); frontal bossing, a prominent forehead, hypertelorism, a flat nasal bridge, and low-set ears were present. A neurological examination showed normal cranial nerves, and regular muscular tropism and tone. No sensory or autonomic involvement was observed. Deep tendon reflexes of superior and lower limbs were present and normal. The Finger-to-Nose test, performed with open eyes, due to lack of collaboration, showed mild hesitation. A widespread ligament lassitude and a mild deficiency of superior limbs’ strength were observed.
We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills through standardized tools (see Table ); in detail, the Leiter International Performance Scale, Third Edition (Leiter-3) [] and the Coloured Progressive Matrices (CPM) [] were administered revealing a non-verbal intellectual quotient (IQ) of 71 and inclusion between 10 and 25th centile (range 75–85).
The Adaptive Behavior Assessment System, Second Edition (ABAS-II) [], a questionnaire filled in by the caregivers evaluating ten adaptive areas organized in four main domains (General Adaptive, Conceptual, Social, Practical), showed adaptive skills below the average in all the fields evaluated (see Table ).
The previous diagnosis of ASD was confirmed through clinical observation and the administration of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), which is the gold standard instrument for the evaluation and diagnosis of autism []. We performed Module 1, which is suitable for children beyond 30 months of age with a verbal language composed of single words. The diagnostic algorithm is organized in two main areas: social affect (SA) and RRB. The total score obtained (SA 16 + RRB 7 = 23) exceeded the cut-off (16) for the diagnosis of autism. Finally, a moderate level of ASD symptom severity was measured through the Calibrated Severity Score (ADOS-CSS).
A Social Responsiveness Scale (SRS) [], a questionnaire filled in by the parents, showed a moderate deficiency of the child’s social relationship, which compromised his general functioning.
Finally, no significant problematic behavior emerged from the caregiver report, Child Behavior Checklist (CBCL) [], except for a borderline score in the area investigating anxiety problems (see Table ).
The father’s clinical and molecular diagnosis of GCPS was made together with his son’s genetic consultation. Both carried the same single nucleotide deletion in the GLI3 gene (c.3677del). Until 42 years of age he underwent no genetic examination.
He was born of Italian non-consanguineous white parents with postaxial polydactyly of the hands and of the right foot and congenital clubfoot, which were surgically operated on after birth. No genetic counseling and screening were performed in the perinatal and postnatal period. Developmental milestones were referred as normal. No academic difficulties were reported and he graduated with success. No family history of neuropsychiatric diseases emerged.
Concurrently with the child’s evaluation, we performed a neuropsychological assessment of the 45-year-old father. Until our clinical examination, he had never undergone a psychiatric evaluation. In particular, a cognitive assessment and a specific evaluation of autistic symptoms were performed (see Table ). His non-verbal IQ, measured by Standard Progressive Matrices (SPM) [], turned out to be above average (IQ 128). Autistic symptoms were measured with the ADOS-2 []. We performed Module 4, which is suitable for adults with fluent speech. The diagnostic algorithm was composed of two main domains: Communication domain (C domain) and Social Relationship domain (SR domain); the algorithm revealed a total score of 5 (C domain 2 + SR domain 3) which does not exceed the general cut-off for the “spectrum” (7) or for “autism” (10). The partial score of the C domain, however, reached the cut-off for the “spectrum” (2). |
pmc-6478490-1 | A 30-year-old male with no comorbidities presented to the emergency room in February 2018 with complaints of headache, fatigue, dry cough, and abdominal pain that started three days prior to admission. Apart from occasional alcohol consumption, his past medical history was unremarkable with no history of surgery or trauma.
On presentation, vitals were within normal limits with the exception of a temperature of 102 °F and his physical exam results were as follows: he appeared to be in moderate distress. Skin was jaundice; his abdominal exam was notable for diffuse abdominal tenderness with hepatosplenomegaly. Lower extremities revealed traced edema. Initial laboratory studies revealed a white blood count of 4.4 K/uL with lymphocytic predominance, hemoglobin of 16 g/dL, platelets 150 K/uL, aspartate aminotransferase (AST) 116 U/L, alanine aminotransferase (ALT) 119 U/L, and creatinine level of 1.1 mg/dL. Hepatitis and human immunodeficiency virus (HIV) panels were negative. Herpes simplex virus (HSV) and cytomegalovirus (CMV) were negative. A presumptive diagnosis of infectious mononucleosis was made and confirmed by serological and polymerase chain reaction (PCR). The EBV viral capsid antigen IgM antibody was >160 (normal <0.9); viral capsid antigen IgG antibody was negative, EBV early antigen IgG was 1.54 (normal <0.9), and the EBV nuclear antigen IgG was negative.
On day three of admission, acute worsening of abdominal pain with shortness of breath complicated the hospital course. Repeat labs were white blood corpuscle (WBC) count of 17.1 K/uL with lymphocytic predominance, hemoglobin 7.8 g/dL, platelets 667 K/uL, AST 332 U/L, and ALT 146 U/L. A computed tomography (CT) was performed, which revealed a wedge infarct of the spleen (Figure ). APAs were sent at that time and were positive. He was transferred to the intensive care unit and started on bilevel positive airway pressure (BiPAP) and continuous renal replacement therapy (CRRT) due to anuria. His clinical status improved with supportive therapy; a repeat CT scan showed improvement of splenic infarcts and he was discharged 27 days later. Repeat APA testing six weeks later was negative. |
pmc-6478493-1 | A 19-year-old boy, suffering from bilateral lower limb swelling for six months, three years ago, was found to have hypoproteinemia on blood investigation. On upper gastrointestinal endoscopic evaluation and thereafter, on push enteroscopy, he was found to have extensive duodeno-jejunal lymphangiectasia, which was confirmed on small bowel biopsy. In view of waxing and waning of lower limb symptoms, he ingested a polyherbal Ayurvedic medicine twice daily for 10 days from a traditional Ayurveda practitioner. Two weeks after consuming the complementary and alternative medicine, he developed anasarca and mild jaundice with total bilirubin 4.8 mg/dl (normal, 0.8–1.2) associated with elevation of aspartate aminotransferase 253 U/L (normal, up to 43 U/L) and alanine aminotransferase 118 U/L (normal, up to 40 U/L). The serum alkaline phosphatase was 114 U/L (normal, up to 145 U/L), serum albumin 2.6 g/dl (normal, 3.5 to 5.5 g/dl) and total protein 4.8 g/dl (normal, 6 to 8 g/dl). Contrast imaging of the abdomen revealed hepatomegaly with patchy liver enhancement and ascites without hepatic vein or inferior vena-cava obstruction. Evaluation for acute hepatotropic and non-hepatotropic viruses including Herpes virus infection and chronic viral hepatitis, Wilson’s disease and autoimmune hepatitis was non-contributory. Family history of liver disease was absent and mutational studies for hemochromatosis, alpha-1 anti-trypsin deficiency and adiponutrin were non-contributory. R ratio for identification of type of liver injury was more than five, suggestive of hepatocellular pattern. The Roussel Uclaf Causality Assessment Method (RUCAM) in drug-induced liver injury (DILI) score was eight, suggestive of probable adverse drug reaction. Liver biopsy showed extensive sinusoidal dilatation with mild perivenular, sinusoidal and perisinusoidal fibrosis (Figures , ).
Clinical improvement was observed over 12 weeks but the patient was lost to follow up. A couple of years later, he presented to our department with ascites and worsening pedal edema. Blood investigations were significant for hypoalbuminemia and raised serum globulins without evidence of hyperbilirubinemia or coagulation failure. A repeat liver biopsy revealed dense sinusoidal and terminal hepatic perivenular fibrosis with parenchymal extension and nodule formation suggestive of chronic SOS-associated cirrhosis (Figures , ). |
pmc-6478494-1 | A now 62-year-old woman presented to the Advocate Lutheran General Hospital (ALGH) on June 6, 2014 because of a three-week history of hemoptysis. She had a 40-pack year history of cigarette smoking. A computed tomographic (CT) scan of the chest, abdomen, and pelvis documented a 5 cm, necrotic, left lower lung mass with pathologic (3-4 cm) hilar and left mediastinal adenopathy. There was an 8 cm mass found in the left adrenal consistent with metastatic involvement. No other metastatic sites were identified. A CT guided fine needle aspiration of the adrenal mass document a poorly differentiated adenocarcinoma consistent with a primary lung adenocarcinoma based on histochemical staining (TTF-1 positive). The epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) studies were negative. A staging magnetic resonance imaging (MRI) of the brain was normal. On her first visit, she had blood loss anemia (hemoglobin 6.9 gms/dL) because of on-going hemoptysis that she estimated to be a cupful daily. On July 1, 2014 she was hospitalized at ALGH, transfused, and started on chemotherapy with carboplatin and pemetrexed. She was discharged and seen weekly. The hemoptysis persisted, and she required one unit of packed red blood cells weekly to maintain a hemoglobin of greater than 7 gms/dL. On July 22, 2014, she received her second cycle of carboplatin and pemetrexed. She continued to have ongoing hemoptysis with weekly transfusion requirements. Following the second cycle of carboplatin and pemetrexed, a restaging chest and abdominal CT documented progressive disease as did the positron emission tomography (PET) scan (Figure ).
The adrenal mass was now 10 cm and the lung primary was now 7 cm. She was referred to radiation oncology in an attempt to better control the ongoing hemoptysis so that she didn’t exsanguinate. She received 27 Gy to the left lower lobe lung mass in 9 fractions.
The hemoptysis started to abate and she was enrolled on a compassionate use nivolumab study, ALGH 1408, and was started on nivolumab 3 mg/kg every two weeks commencing on September 24, 2014; the patient continues on nivolumab now 480 mg monthly.
The PET scan performed on January 25, 2015, after 15 cycles of nivolumab is shown in Figure . The left adrenal mass reading was an SUV of 2.2 and the size decreased to 2.2 cm. |
pmc-6478496-1 | A 58-year-old male with a history of liver cirrhosis secondary to alcohol abuse, presented with right hip pain, abdominal pain, and severe anemia. He had been binging on alcohol and sustained a fall prior to his presentation. Computed tomography (CT) scan of the head was negative for intracranial bleed. However, a scan of the abdomen and pelvis showed a fluid collection at the lateral aspect of the right hip concerning for a hematoma. The patient received multiple units of packed red blood cells (RBCs) with no sustained improvement in his hemoglobin (Figure ). Esophagogastroduodenoscopy (EGD) showed three columns of non-bleeding grade I varices in the lower third of the esophagus and mild diffuse portal hypertensive gastropathy with no bleeding. A tagged RBC scan was not suggestive of gastrointestinal bleed. CT angiography run-off showed stable muscle and soft tissue hematoma (21 x 6.3 x 5.5 cm) involving the right pelvis and upper leg extending to the level of the knee. A conventional angiography did not show any extravasation from the pelvic and lower limb arteries. Direct and indirect Coombs tests were negative. A blood smear showed macrocytic anemia and thrombocytopenia with schistocytes and acanthocytes. His total bilirubin increased to a maximum of 41 (Figure ). Liver Doppler ultrasound showed a heterogenous liver with no focal lesions, patent hepatic and portal veins, and no biliary ductal dilatation. His lipid panel was normal. His initial laboratory workup, along with his labs on day seven which showed evidence of hemolysis, is shown in Table . The patient was diagnosed with atypical ZS and supportive treatment was recommended. Unfortunately, his hospitalization was complicated by encephalopathy, aspiration pneumonia, and septic shock. He died due to his comorbidities. |
pmc-6478673-1 | A 21-year-old male patient presented to the emergency with severe abdominal pain of 7 h and 8 vomiting episodes. The first test showed normal amylase (93 U/L; normal 30-110 U/L) and slightly augmented lipase levels (332 U/L; normal 23-300 U/L). Analgesics were administered with partial improvement of pain. The second test performed 8 h after patient's admission revealed increase in levels of amylase to 292 U/L and lipase to 1,159 U/L, indicating acute pancreatitis. An increased volume of pancreatic tail, but no gallbladder, was observed through endoscopic retrograde cholangiopancreatography (ERCP) and magnetic resonance imaging (MRI) showed intestinal swelling. Two years before this episode of pancreatitis, he had been diagnosed with HAE type I, characterized by low C1-INH and C4 levels. The onset of HAE occurred at 1 year of age and consisted of facial edema triggered by trauma. Since then, he has been presenting with intermittent and irregular swelling episodes of the hands and feet, abdominal pain, and 3 episodes of upper airway edema. Due to HAE diagnosis, Icatibant (30 mg) was administered 19 h after admission, and the pain significantly reduced within 3 h. Amylase (69 U/L; normal 30–110 U/L) and lipase (165 U/L; normal 23–300 U/L) normalized 18 h after Icatibant injection and the patient was discharged the next day. |
pmc-6478673-2 | A 47-year-old female patient with C1-INH-HAE diagnosed 8 years earlier, presented to the emergency department with distended abdomen and severe abdominal pain lasting 24 h . The first test revealed increased amylase 210 U/L (normal 28–100 U/L), which considering a longer duration of abdominal pain indicated the development of pancreatitis. Since the hospital located in the North of Brazil had no vacancy, a single dose of Icatibant (30 mg) provided by the patient was administered and she was subsequently discharged. The next day, she presented with almost complete relief from the abdominal pain; in a total of 7 days, amylase and lipase reduced to normal levels. This patient has been presenting with recurrent angioedema attacks in the abdomen, face, limbs, and a few episodes in the upper airways, since she was 28-year-old. At that age, she underwent appendectomy and was misdiagnosed with Familial Mediterranean Fever. Only after 11 years, was she correctly diagnosed with C1-INH-HAE, confirmed using low C4 (6 mg/dL; normal 10–40 mg/dL) and C1-INH plasma levels (2 mg/dL; normal 19–40 mg/dL). She was treated with a prophylactic use of plasma-derived C1-INH and Icatibant during the attacks. |
pmc-6478673-3 | A 52-year-old female patient with F12-HAE (mutation p.Thr328Lys) had the onset of angioedema attacks at 16 years of age, during her first pregnancy. Symptoms were edema affecting the face, hands, and feet and abdominal pain. Currently, angioedema episodes occur monthly despite tranexamic acid prophylaxis (500 mg/day), mostly affecting gastrointestinal tract. Recently, one abdominal attack required 4 days of hospitalization. Pancreatitis was diagnosed using acute abdominal pain, high serum amylase levels (391 U/L; normal 25–125 U/L), and pathological signs at abdominal ultrasonography (US). She had normal leucocyte and platelet counts, total bilirubin, and aspartate aminotransferase. She was conservatively treated for pancreatitis due to the lack of the specific medication for HAE. |
pmc-6478776-1 | A 41-year-old man was admitted to our hospital with obstructive jaundice and anorexia. For up to 18 years before admission, he worked at a printing company where an outbreak of cholangiocarcinoma occurred, and he was exposed to high concentrations of DCP and DCM over the 6 years of his employment. Six months before his admission, elevated serum gamma-glutamyl transpeptidase (γ-GTP) activity was detected during a regular medical examination. The patient had a history of heavy alcohol consumption.
Results of the laboratory tests performed at the first admission revealed an elevated serum total bilirubin concentration (10.7 mg/dL) and elevated activity of aspartate aminotransferase (76 U/L), alanine aminotransferase (226 U/L), and γ-GTP (319 U/L). Though the serum concentration of carbohydrate antigen 19-9 (CA 19-9) was within the reference range (2.0 ng/mL), concentrations of the carcinoembryonic antigen and s-pancreas-1 antigen were elevated (17.9 ng/mL and 103.7 U/mL, respectively). A dynamic abdominal computed tomography (CT) scan exhibited dilatation of the intrahepatic bile ducts with common bile duct obstruction owing to a tumor that was suspected to be an enlarged lymph node (maximum diameter, 45 mm) originating in the hepatoduodenal ligament or peripancreatic region (the bulky lymph node) and invading the common bile duct and pancreatic head (Fig. a) as well as enlarged para-aortic lymph nodes (Fig. b). Although the intrahepatic bile ducts were entirely dilated, cystic dilatation of the intraductal tumor suspected as an intraductal papillary neoplasm of the bile duct (IPNB) was identified on CT and magnetic resonance cholangiopancreatography at the proximal side of the biliary branch in segment 2 (B2) (Fig. ). Adenocarcinoma cells were detected on biliary cytology with endoscopic retrograde cholangiopancreatography (ERCP). These findings indicated a cholangiocarcinoma as invasive IPNB with extensive lymph node metastases in the hepatoduodenal ligament and in the para-aortic lesion, with curative surgery considered impossible.
After a metallic stent was inserted at the stenosis of the common bile duct during ERCP, he received chemotherapy with a combination of gemcitabine and cisplatin. After 5 cycles of chemotherapy, the size of the intraductal tumor at B2 remained unchanged; however, the bulky lymph node grew up to 120 mm in diameter, evidently invading/obstructing the duodenum (Fig. a, b). Therefore, we performed laparoscopic gastrojejunostomy with Billroth II reconstruction. Although oral ingestion was achieved after the operation, the patient developed sudden abdominal pain, and an inflammatory response was detected on laboratory test results (white blood cell count of 37,010 cells/μL and C-reactive protein of 30.9 mg/dL) at 19 days after the operation. Abdominal CT revealed ascites and free air around the bulky lymph node (Fig. c). During the emergency laparotomy, the bulky lymph node invading the surrounding organs ruptured with a large amount of purulent ascites. The ruptured orifice was covered with the greater omentum, followed by multiple placements of surgical drains. However, the patient’s general condition gradually worsened, and he died 8 days after the second operation (8 months after admission).
Macroscopic findings during the autopsy examination revealed the bulky lymph node invading the duodenum and transverse colon (Fig. a). An intraductal tumor was also observed in B2 (Fig. b).
Locations of pathological lesions were mapped on the biliary tree, with reference from preoperative radiologic imaging and gross autopsy findings (Fig. ). We histologically defined carcinoma, biliary intraepithelial neoplasia (BilIN), IPNB, and chronic bile duct injury according to the World Health Organization classification for intrahepatic cholangiocarcinoma []. Pathological examination of the autopsy specimens with H&E staining revealed that the bulky lymph node was diagnosed as a poorly differentiated adenocarcinoma with partial squamous epithelial differentiation (Fig. b, c) and invasion to the duodenum, common bile duct, pancreas, and liver. BilIN (Fig. d, g) and chronic bile duct injury (Fig. a) were identified at various sites in the large bile ducts, and intermediate-grade IPNB without invasion was seen in B2 (Fig. h, i). In addition, a well-differentiated tubular adenocarcinoma, in which the histologic type differed from enlarged lymph node metastasis, was detected at the stromal site of Glisson’s sheath around the proximal side of the bile duct in segment 3 (B3) (Fig. e, f). Although BilIN was detected in the large bile ducts around this stromal adenocarcinoma lesion (Fig. d), an invasive carcinoma was not obvious in the biliary epithelium of B3, and adenocarcinoma was not detected in any other organs.
Immunological staining using primary antibodies against γH2AX (1:100 Rabbit Monoclonal; Novus Biologicals, Littleton, CO, USA), which is a marker for double-strand DNA injuries; S100P (1:100 Rabbit Monoclonal, Epitomics), which is a marker for malignant transformation; and primary antibodies against PD-L1 (clone 28-8, 1:500; Abcam) were performed. Almost all portions of the invasive carcinoma, BilIN, and IPNB had positive expressions of γH2AX and S100P. Although γH2AX expression was also identified within the non-neoplastic biliary epithelium, S100P expression was absent or relatively weak (Table , Fig. a–j). Neither γH2AX nor S100P expression was detected in hepatocytes. PD-L1 expression was absent in tumor cells at the stromal side of segment 3 of Glisson’s sheath and non-neoplastic epithelium (Table , Fig. l, o). Although it was < 5%, positive PD-L1 expression was detected in the cells of the bulky lymph node, BilIN, and IPNB (Table , Fig. k, m, n). |
pmc-6478778-1 | A 48-year-old woman with no smoking history visited another hospital twice because of cough, 5 and 9 years earlier. The chest X-ray and computed tomography (CT) showed a nodule with a diameter of about 20 mm in the left lung that was suspected to be a bronchial cyst. She had not since visited the hospital. She finally came to our hospital because of an abnormal shadow on a radiograph on a health check. The chest CT (Revolution EVO; GE Healthcare, Tokyo, Japan) showed a multicystic mass without irregular wall thickness and a diameter of 35 mm on the dorsal interlobar parenchyma between the S1+2 and S6 segments in the left lung (Fig. ). The bronchoscopy showed that three bronchi branched from the LMB, a branch of the lower lobe and two branches of the upper lobe (Fig. ). No histological diagnosis was obtained by bronchoscopic biopsy. The three-dimensional (3D) CT with multiplanar reconstruction by a standalone workstation (SYNAPSE VINCENT; Fujifilm, Tokyo, Japan) showed that B1+2b+c passed to the dorsal side of the left main PA, which was considered a displaced bronchus (Fig. ). The branch of A6 arose from the left main PA at the level of the branches of A3 and A1+2, more proximal than the normal anatomy, and passed to the dorsal side of the displaced B1+2b+c. The branch of V1+2 passed between B6 and the bronchus to the basal segment and joined V6 at the dorsal side of the pulmonary hilum. Although the preoperative diagnosis predicted benign disease, a bronchial cyst, surgical resection was performed for the purpose of diagnosis because the multicystic mass had grown bigger with time. If it was diagnosed malignant such as lung cancer by postoperative pathological examination, additional surgery needs to be planned for mediastinal lymph node dissection.
Segmentectomy of S1+2b+c and S6 was performed by VATS with a 4 cm access thoracotomy at the fifth intercostal space of the anterior axillary line, a 1.5-cm access port at the sixth intercostal space of the posterior axillary line, and a 5-mm camera port at the seventh intercostal space of the middle axillary line. There were accessory fissures between S1+2 and S3 and between S6 and the basal segment that were largely fused. The intraoperative findings of the anatomy of the bronchi and pulmonary vessels were exactly the same as the preoperative CT findings (Fig. ). At the cranial and dorsal sides of the pulmonary hilum, A6, which arose more proximal and passed to the dorsal side of the displaced B1+2b+c, was divided. Then, the displaced B1+2b+c was readily identified, and V1+2+V6, B6 and the displaced B1+2b+c were divided in sequence. After dividing the largely fused accessory fissure between S6 and the basal segment by stapler, A1+2c and A1+2b were divided. Finally, the largely fused accessory fissure between S1+2 and S3 was divided by stapler. The intersegmental line could be readily identified because of accessory fissures. If there was no accessory fissure, the technique that created a demarcation line between the inflated and deflated segment might be used. The operating time was 260 min, and the blood loss was minimal. The patient’s postoperative course was good. The pathological diagnosis was left lung abscess. The mass was a cyst connected to a bronchus. The wall structure was desquamated and replaced by the granulation tissue with inflammatory cells. Since there was no finding of a bronchial atresia in the resected specimen, the etiology of the lung abscess was considered as a bronchial cyst with recurrent infection. |
pmc-6478780-1 | A 54-year-old man with type C cirrhosis was admitted to another hospital complaining of hematemesis due to rupture of the esophageal varices and underwent hemostasis with endoscopic variceal ligation (EVL). Abdominal ultrasonography revealed ascites, and color Doppler ultrasonography showed IAPF between the branch of the left hepatic artery and umbilical part of the left branch of the portal vein. The right portal venous flow was hepatopetal, and the left portal venous flow was hepatofugal (Fig. ). Contrast-enhanced computed tomography (CT) demonstrated IAPF in the left lobe, and the umbilical part of the left branch of the portal vein was enhanced simultaneously in the arterial phase (Fig. ). Digital subtraction angiography (DSA) revealed diffuse IAPF and an early filling of the left branch of the portal vein (Fig. a). The cause of portal hypertension was IAPF supplied by A2, A3, and A4, and transcatheter arterial embolization (TAE) using microcoils was performed to close the fistula. A2, A3, and A4 were embolized; however, the fistula was not completely occluded (Fig. b). Thereafter, there were a total of four hematemeses due to esophageal variceal rupture, and a total of six EVLs were performed. The second TAE also failed to reach complete occlusion because of diffuse collateralization. As hematemesis was repeated after treatment, the patient was transferred to our hospital for further treatment. Laboratory results were as follows: white blood cell count of 4500/μL (normal, 4000–9000); red blood cell count of 328 × 104/μL (normal, 427–570 × 104/μL); serum hemoglobin concentration of 10.2 g/dL (normal, 14–18 g/dL); serum platelet count of 12.8 × 104/μL (normal, 15–35 × 104/μL); aspartate transaminase concentration of 69 IU/L (normal, 8–38 IU/L); alanine transaminase concentration of 45 IU/L (normal, 4–44 IU/L); serum albumin concentration of 4.1 g/dL (normal, 3.9–4.9 g/dL); total bilirubin concentration of 0.6 mg/dL (normal, 0.2–1.2 mg/dL); prothrombin time of 67.0%; and ICGR15 level of 12.4%. The clinical Child-Pugh classification status was B. As with previous hospital examinations, abdominal CT demonstrated ascites and remaining IAPF in the left lobe of the liver. Although left hepatectomy including IAPF was thought to be needed, we concluded that major hepatectomy at this point had a high risk because of poor general condition due to frequent hematemesis and deterioration of liver function. Although an apparent decline in liver function due to frequent massive bleeding was possible, the general condition was extremely poor and was not suitable for left hepatectomy. Therefore, we performed ligation of the draining left portal vein and dissection of the left gastric vein that supplied varicose veins (Fig. ). A catheter was inserted from the paraumbilical vein to measure the portal venous pressure. Portal venous pressure decreased from 330 to 210 mmH2O after ligation of the left portal vein. The operating time was 251 min, and the intraoperative bleeding was 340 mL. However, melena appeared on the 5th postoperative day, and the progression of anemia was observed. An emergency upper gastrointestinal endoscopy was performed on suspecting bleeding from the esophageal varices. Although there was no active bleeding, EVL was performed for the esophageal varices with red color signs. The laboratory results on the 14th postoperative day were as follows: aspartate transaminase concentration, 48 IU/L; alanine transaminase concentration, 34 IU/L; serum albumin concentration, 3.6 g/dL; total bilirubin concentration, 0.5 mg/dL; prothrombin time, 67.9%; and ICGR15 level, 13.8%. Ascites disappeared at the CT findings in the postoperative course, and the clinical Child-Pugh classification status improved from grade B to grade A. After the first surgery, the general condition and liver function were improved on the 14th postoperative day. Therefore, left hepatectomy (Fig. ) was performed to remove the IAPF completely on the 21st postoperative day. Adhesion was observed around the hepatic hilum because of the first operation. Furthermore, the division of the hepatic hilum was hemorrhagic owing to portal hypertension. As the left portal vein was ligated at the time of the first operation, the demarcation line was found on the liver surface by dissection of the left hepatic artery. After mobilization of the left liver, parenchymal dissection was performed under intermittent inflow occlusion, that is, 15 min of occlusion followed by 5 min perfusion. The operating time was 318 min, and the intraoperative bleeding amount was 1800 mL. In the macroscopic findings of the resected specimen, arterioportal fistula could not be identified (Fig. a). In the microscopic findings, the background liver tissue showed the presence of many pseudo-nodules, indicating liver cirrhosis. Many dilatated vessels in Glisson’s sheath and arterioportal fistula were observed (Fig. b). Contrast-enhanced CT after left hepatectomy revealed that earlier enhancement of the branch of the portal vein disappeared in the hepatic arterial phase (Fig. ). Although anorexia and wound infection were noted, there were no other major complications, and he was discharged on the 32nd postoperative day. There was no recurrence of portal hypertension for 1 year and 3 months after hepatectomy. |
pmc-6479100-1 | A 18-year-old man presented with a 3 months history of right intermittent epistaxis, permanent nasal obstruction, anosmia and right hearing loss. No other nasal or ocular symptoms were noticed. The physical exam found a right exophtalmia, a swelling deformatted right hemiface () and a bulky whitish tumor filling the right nasal cavity at the nasal endsocopy. Cranial nerves, neck and oral cavity exams were normal.
A computed tomography showed heterogeneous tissue tumor, measuring 8.7 × 6.5 cm heterogenously enhancing. Important lysis of the inner wall of the right orbit with important extension (intra-orbital, intra sellar, nasopharynx and right pterygoide fossa) ().
Magnetic resonance imaging (MRI) confirmed the orbital, intra sellar and the right pterygoide fossa extension with a hyper vascularized nasopharyngeal process filling the right nasal cavity ().
Microscopic examination of the biopsy showed ulcerated tumor proliferation richly vascularized with thickened-wall vessels and turgid endothelium. This proliferation is made of globular cells with abundant eosinophilic cytoplasm. The nuclei are moderately hyperchromatic sites of moderate cytonuclear atypia. This proliferation is dissociated by lymphoplasmocytes and histiocytes. Immunohistochemical study shows cytokeratin negativity and positivity of CD31. The histological aspect is compatible with a epitheloid hemangioendothelioma ().
Due to aggressivity, advanced tumor stage and intracranial extension, the surgery was contraindicated.
The patient received 55 Gy of intensity modulated radiotherapy (IMRT) with weekly chemotherapy made of cisplastine (40 mg/m2) for 6 weeks.
At 18 months follow-up, the exopthalos regressed () and the MRI showed 50% regression of the tumor process ().
Otherwise the patient presented a mucositis of the right cheek, cured by medical treatment. |
pmc-6479101-1 | A 2 year-old male child was brought to pediatric outpatient department with swelling in temporal region and history of convulsions one week back. For which he was treated by some private practioner and was reffered at our centre for further management. The patient had a history of recent trauma. Considering this, X-Ray was advised, which revealed a mass lesion in left temporal region. Magnetic resonance imaging (MRI) of the head revealed a well-defined 5 cm × 3 cm enhancing lesion with altered signal intensity in the left temporal region. The lesion showed intense contrast enhancement with underlying bone erosion and involving the left cerebellopontine angle (). Imaging findings were suspected of a metastatic lesion. On reviewing the records of the patient, we came to know that patient is a known case of Down’s syndrome.
Fine needle aspiration cytology (FNAC) of the mass was performed which showed small, uniform, blue, round cells which at places were forming rosettes (). Considering these findings, a diagnosis of small blue round cell tumor favouring neuroblastoma was rendered. Incisional Biopsy of the mass was performed which revealed a tumor in multiple nodules surrounding the skeletal muscles. Tumor was composed of highly atypical cells, arranged diffusely and in infiltrative pattern in the fibrovascular background. Tumor cells were pleomorphic, round to oval, with vesicular nuclei. Fair number of typical and atypical mitosis was also seen (A–C). On IHC, these cells were strongly and diffusely positive for MPO, CD 117 and CD 34, focally positive for CD 99, vimentin and HLA DR and negative for LCA, CD 20, CD3, CD 10, CD 56, Tdt, CK, NB84 and synaptophysin (A–D). Myogenin and Desmin were negative ruling out possibility of rhabdomyosarcoma. Histopathological diagnosis of myeloid sarcoma was made.
Extensive haematological workup, including bone marrow biopsy and immunophenotyping, cytogenetics and positron emission tomography (PET) scan were performed, all yielded negative results and the patient was discharged from hospital without additional treatment and the decision to begin induction chemotherapy with daunorubicin and cytarabine was made. After a month patient returned for his treatment. At that time peripheral blood examination revealed 90% atypical cells/blasts conforming to morphology of myeloid blasts (). Child was admitted for chemotherapy and is on regular follow up. He is doing well and is in complete remission. |
pmc-6479102-1 | A 28-year-old man was admitted due to an increase of the circumference and pigment changes on the whole right leg and gluteal region from the time he was born. Segmental resection was performed multiple times during childhood at another hospital. Pressure therapy with normal stockings was performed intermittently, but his symptoms gradually worsened and our hospital was subsequently consulted. At consultation, swelling was detected in the whole right leg and showed a difference in circumference between the left and right legs (). In addition, he exhibited signs of right leg cellulitis with a fever about 40° at frequency of the degree once a month. In addition, pain of NSR (Numerical Rating Scale) 4–5 degree was detected during inflammation. The measurements (cm) for the right lower extremity diameter at initial diagnosis were as follows: dorsalis pedis, 22.5; ankle, 28.6; 10 cm below the knee joint, 35.8; knee joint, 42.0; and 10 cm above the knee joint, 45.0. He started wearing elastic stockings for lymphedema after consultation with our department and symptoms resolved at once. However, because he developed cellulitis again, we planned to perform LVA of the right leg to prevent cellulitis of the lower limbs. We conducted lymph flow evaluation by indocyanine green angiography preoperatively. At first, indocyanine green was injected on the tip of the foot as part of normal indocyanine green angiography, but the dye almost did not move from injection site. Next, we injected indocyanine green around skin lesions on the femoral and gluteal areas (). We identified voluminous, significant lymph, which flowed out from skin lesions. We performed 7 lymphaticovenular anastomosis at the femoral region, groin region, the calf, ankle joint, and the buttocks (, ). As for the lymph that entered the anastomosis, the smallest diameter of the anastomosis 0.35 mm and the maximal diameter was 0.8 mm. In particular, we anastomosed the lymphatic duct and vein near the border of the lesion from normal tissue in the area of the femoral and gluteal skin lesions. The operative time was 4 h and 28 min.
The measurements (cm) for the right lower extremity diameter at one week after operation were as follows: dorsalis pedis, 21.5; ankle, 27.5; 10 cm below the knee joint, 33.5; knee joint, 42.0; and 10 cm above the knee joint, 46.0. Therefore, slight improvement in the condition was observed. The operation caused infection to develop in the surgical suture in the ankle, postoperatively, but symptoms cleared by removing the thread. The patient has been cellulitis-free for 1 year post-operatively and has been able to live his daily life without any problems. He uses elastic stockings intermittently. The patient has agreed to the publication of this paper. |
pmc-6479103-1 | A 46 year old male patient presented to our emergency department with a 24 h history of diffuse abdominal pain and obstipation. It was not associated with vomiting or fever. The patient has a negative medical history, but a surgical history of splenectomy 12 years ago, post traumatic rupture of the spleen. On presentation, patient was afebrile, and vital signs were within normal limits. On physical exam, his abdomen was distended with diffuse tenderness. His blood tests showed a high White blood cell count of 23040/ mm³[4000–10500], with normal hepatic and pancreatic enzymes. CT scan of abdomen and pelvis showed multiple splenic nodules in the left upper quadrant, with small bowel distention and air-fluid levels mostly in the jejunum, suggesting an intestinal obstruction. A decision for exploratory laparotomy was made , . At exploration, more than 50 splenic nodules were found in the left sub-diaphragmatic region, not affecting adjacent structures. However, a splenic tissue was found on the mesentery of the jejunum, taking its vascularization from thesplenic artery and vein. This splenic tissue was giving another splenic nodule on the ileum its blood supply, which in turn is giving another splenule on the mesosigmoid its vascularization. The bridges between these splenic fragments were causing an external compression and obstruction of the small bowel and colon . These three splenic tissues were resected with their blood supply and sent for pathologic studies , while the others in the left sub-diaphragmatic area were left intact. The patient started oral feeding on post-operative day 4 after removal of the nasogastric tube and discharged home on 7th post-operative day. Pathologic studies later on confirmed the diagnosis of splenosis. |
pmc-6479526-1 | A 14-year-11-month-old girl was referred to our Paediatric Emergency Department with dysgeusia and reduced mobility of the left side of the face, unable to close the left eye for one day before the admission. She had no remarkable recent medical history. When she was 11 years old she had a similar episode, with the inability to close the right eye and deviation of the labial commissure, which had completely disappeared after treatment with acyclovir and prednisone; at that time, parents denied any trauma, and House–Brackmann grade 4 facial palsy was diagnosed. A follow-up was planned for six months, and neurological sequelae or recurrences in that period were excluded. Her family history revealed that her father also suffered from recurrent peripheral facial nerve palsy. The physical examination showed right-sided deviation of the labial commissure, obliteration of the left nasolabial fold, incomplete closure of the left eye (), swelling of the upper and lower lips, and a fissured tongue (). There was no evidence of other cranial nerve involvement, and a detailed neurologic assessment did not reveal any other neurological deficits. The complete autoimmunity panel was performed, resulting in normal values except for ANA positivity (1:160). The recurrence of symptoms, results of laboratory tests, and instrumental assessments led to a suspicion of MRS. The patient was started on a tapering dose of prednisone for 5 weeks. She was given acyclovir until cerebrospinal fluid (CSF) analysis resulted negative for a viral load. Furthermore, the patient received intramuscular vitamin B-12 supplementation (500 mcg weekly for 5 weeks). At the four-month follow-up, there was no longer evidence of the facial palsy, and none of the symptoms have recurred during the last three years. |
pmc-6479526-2 | A girl aged seven years and eight months was referred to our observation because of left peripheral facial palsy, causing the inability to close the left eye and dropping of the corner of the mouth. A first peripheral facial nerve palsy occurred when she was three years and one month old, with complete regression after corticosteroid treatment. At the age of three years and nine months, she was diagnosed with pure red cell hypoplasia, manifested as severe anaemia (haemoglobin: 3.00 g/dL; red blood cells: 1,000,000/mm3) with an extreme lack of erythroid precursors in the bone marrow, but high growth of them in culture, probably caused by anti-EPO antibodies. The detection of anti-EPO antibodies, however, is not routinely performed in a clinical setting. The autoimmune hypothesis was postulated on empirical bases, since haemoglobin levels did not increase after recombinant human EPO administration, but normalized after corticosteroid therapy, and the addition of autologous serum to the erythroid precursor culture inhibited EPO growth. When she was 4 years and 4 months old, the patient presented with a second episode of left facial palsy, combined with the acute onset of a strength deficit on the left side of the body. Mingazzini I and II were positive for the left limbs. The imaging assessment showed a haemorrhagic stroke corresponding to the anterior portion of the right putamen and of the external capsule with perilesional oedema, involving the anterior limb of the internal capsule. Blood pressure measurements performed during the hospitalisation revealed high diastolic blood pressure values. These findings suggest a central rather than peripheral involvement of the facial nerve. Three weeks after their beginning, the symptoms had completely regressed. At the age of five years and six months, a third episode of left peripheral facial palsy occurred. Brain magnetic resonance imaging (MRI) was repeated, showing gliotic evolution of the previous haemorrhagic insult without new lesions. The patient was treated with corticosteroids, with a good regression of symptoms. On the last episode, the patient had initially visited a first level emergency room, where laboratory tests, as well as ophthalmologic, neurologic, and otoscopic examinations and a head computed tomography (CT) scan performed were normal. When admitted to our department, the neurologic examination showed complete peripheral left facial palsy (House–Brackmann grade V). Physical examination showed the presence of a furrowed tongue as a synchronous anomaly. No active herpetic mucosal and skin lesions were found. The patient was started on a tapering dose of prednisone for 30 days and vitamin B group supplementation was added. The clinical course was favourable. Three months after, at last follow up, neurological impairment had clearly improved. Facial palsy gradually resolved after the third week of treatment. |
pmc-6479526-3 | A nine-year-and-one-month-old girl was referred to our paediatric department with an acute right peripheral facial palsy, causing inability to close the right eye and periorbital pain (House–Brackmann grade IV). Symptoms had set in two weeks earlier, and since then she had undergone an otoscopic evaluation and a cranial MRI, with and without contrast; these tests had shown normal findings, except for a mild right facial nerve gadolinium enhancement. The child was started on oral prednisone, with little clinical benefit, and was therefore referred to our paediatric neurology unit. Her parents reported a previous episode of facial palsy concomitant with an acute otitis when she was 18 months old. A physical examination showed orofacial oedema involving the right cheek, while a neurological examination revealed right lagophtalmos and dropping of the right corner of the mouth, along with Bell’s sign positivity. Serological isoelectro focusing showed a previous infection with Cytomegalovirus and Epstein–Barr virus. The association between recurrent peripheral facial palsy and orofacial oedema, and the idiopathic nature of facial palsy itself suggested a diagnosis of MRS. The patient was started on a tapering dose of prednisone for 25 days; she was treated with acyclovir for 10 days, and received Vitamin B (daily oral administration for two months) and Vitamin D supplementation. At the one-month follow-up, the paralysis had been markedly reduced (House–Brackmann grade II). |
pmc-6479567-1 | A 67-year-old Caucasian man presented to the emergency room because of a 4 days’ history of abdominal pain, with one episode of vomiting.
The patient’s past medical history was significant for colonic diverticulosis and an episode of gastrointestinal bleeding one year before. The event had been investigated by two different gastroscopies, a colonoscopy and a MDCT, which produced inconclusive results. Ten months later he was newly admitted because of abdominal pain and fever at 38.0 C°, with valid urination and defecation. A CT of the abdomen was performed, which confirmed the colonic diverticulosis and revealed the presence of multiple diverticula of the small intestine, fat stranding, signs of inflammation as well as a small amount of free liquid in the abdomen. The patient was hence diagnosed with jejunal diverticulitis and managed conservatively with intra-venous antibiotics, with an apparent complete recovery.
He re-presented to the emergency department two months later with acute abdominal pain. The pain was described as severe and constant, localized mainly in the lower abdomen with clinical signs of peritonitis. No change in bowel habits nor urinary symptoms were complained. His vital signs were stable, with a temperature of 37.2 C°; he appeared fully oriented and not in any acute distress. Laboratory examination reported a hemoglobin of 121 g/dL, a WBC count of 12.2 × 10E9/L and a CRP of 249 mg/L. Other laboratory data were within normal limit. An abdominal and pelvic contrast-enhanced computed tomography, with administration of oral contrast, was performed. Jejunum and ileum showed several diverticula as well as an inflammatory thick-walled mass involving different loops of the intestine. In addition, free fluid in the abdomen and a small amount of subdiaphragmatic air were reported (, ). On the basis of these findings, the diagnosis of perforated diverticulitis was hereby proposed.
The patient underwent a diagnostic laparoscopy which revealed plenty of purulent yellowish liquid collected in the right abdomen and a conglomerate of intestinal inflamed loops. We hence decided to convert immediately the procedure to laparotomy. Large multiple diverticula were found covering a section of small intestine approximately 2.5 m long, without signs of obvious macro perforation. Among the middle distal tract of the jejunum and the middle distal tract of ileum, strong adhesions were identified (). The involved segments of jejunum and ileum were connected by an intestinal loop free of signs of diverticulosis (). There were no signs of bowel ischemia. Adhesiolisis was partially carried out, however, because of difficulties associated with the procedure, we opt to perform a double enterectomy, removing only those segments involved in the intestinal conglomerate and deeply affected by the pathology. Roughly 25 cm of ileum and 80 cm of jejunum were resected. Bowel continuity was restored with an ileo-ileal and a jejuno-jejunal anastomosis. Almost 700 cl of pus were drained and the peritoneal cavity was washed with 10 L of saline solution. The postoperative recovery was uneventful and the patient was discharged 8 days later. There were no signs of malignancy in the resected intestine. |
pmc-6479779-1 | Patient 1 (LA058) is a 47-year-old male with a personal history of diabetes mellitus type 1, aortic valve insufficiency, and a smoking history of 20 cigarette packages per year. He was diagnosed in September 2010 with a stage IIIA (cT4N0M0) lung adenocarcinoma, with the primary tumor at the aorto-pulmonary window. He showed a nearly complete response to cisplatin/etoposide chemotherapy concurrently with radiotherapy. Seven months later, he relapsed with an upper right lobe (URL) metastasis and regrowth of the primary mass. The disease stabilized after six cycles of carboplatin/pemetrexed therapy. Progression was detected three months later, and the patient started systemic treatments with docetaxel-bevacizumab (stable disease after six cycles), then erlotinib (progression at three months), then gemcitabine (stable disease but progressing after six months), and finally vinorelbine (progression after three cycles with a new suprarenal lesion). Right suparrenalectomy was performed and sterotactic body radiation therapy on the URL node was administered in April 2015.
In April 2016, a paravertebral mass and a contralateral upper left lobe metastasis (ULL) were detected with slow progression. The patient exhibited good performance (ECOG0), absence of symptoms, and slow growth of the disease.
In April 2018, he presented progressive dyspnea and asthenia, with progression of the paravertebral mass and the ULL node (a). PD-L1 expression in a tumor sample obtained by bronchoscopy was negative, and the status of ROS1 and ALK rearrangements and EGFR mutation were non-informative. Treatment with 1200 mg q21d atezolizumab (anti-PD-L1) was started, without significant side-effects and evident clinical improvement. The right paravertebral mass and the ULL node showed shrinkage after four cycles of therapy, and absence of new lesions, compatible with a partial response (a). He is currently under treatment with adequate tolerance to treatment. |
pmc-6479779-2 | Patient 2 (LA056) is a 64-year-old woman with a smoking history of 40 cigarette packages per year and hypercholesterolemia, with long-lasting bronchopneumonia and a suspicious mass in the Lower Right Lobe (LLR). PET-CT scan uncovered a 7-cm-wide lesion in the LLR with high metabolic activity and another lesion in the Middle Right Lobe (b). Results from fine-needle aspiration suggested an adenocarcinoma. Bilobectomy of the lower right lobe and the middle lobe was performed together with hilar-mediastinal lymphadenectomy. The patient was diagnosed with pT4N0M0 (stage IIIA) lung adenocarcinoma with ipsilateral nodes and lack of nodal involvement. Subsequent study of molecular markers in cancer cells (ALK, ROS1, EFGR mutations) were negative. PD-L1 expression in the tumor was null.
The patient underwent four cycles of adjuvant chemotherapy with intravenous cisplatin (80 mg/m2) on day one, plus vinorelbine (25 mg/m2) on days one and eight q21d, presenting grade two diarrhea. The patient presented progression with bilateral pulmonary nodes and tumor relapse at the previous surgical site. Palliative chemotherapy with pemetrexed (500 mg/m2 q21d) was initiated, achieving stabilization. After 10 cycles of treatment, CT scans showed an increase in the number and size of the pulmonary nodes (b).
Treatment with atezolizumab was initiated. The patient presented fever, cough, and progressive dyspnea after six cycles. Increases in the number and mass of contralateral pulmonary nodes without implication of bacterial or fungal infections was observed, consistent with progressive disease (b). |
pmc-6480419-1 | A 36-year-old man with thoracolumbar kyphoscoliosis presented to our clinic. He was diagnosed with ankylosing spondylitis at the age of 16 and spine deformity which gradually progressed to a degree where it was impossible for him to stand straight. The preoperative thoracic kyphosis (TK), thoracolumbar kyphosis (TLK), lumbar lordosis (LL), and sagittal vertical axis (SVA) were 93.8°, 30.8°, − 10.3°, and 259 mm, respectively. Although having severe thoracolumbar kyphotic deformity and an unmovable neck, the patient was still able to look horizontally with a CBVA of 21°. His cervical spine was totally fused (Figs. and ). |
pmc-6480442-1 | An 11-year-old boy (weight, 35 kg; height, 154 cm) was admitted to our Hybrid ER with a history of blunt chest trauma after being run over by a truck. He was previously healthy, with no co-morbidities. During transport, the ambulance service administered oxygen at 10 L/min with a non-rebreather mask. The primary survey upon arrival to the emergency department: Airway (A) patent. Breathing (B) bilateral subcutaneous emphysema, right tension pneumothorax, tachypnea with a respiratory rate of 42/min and oxygen saturation of 66% on 10 L of oxygen by non-rebreather mask. Circulation (C) hemodynamically unstable with a pulse rate of 162/min and a blood pressure of 112/94 mmHg. Disability (D) Glasgow Coma Scale of 11/15. He was intubated with a single-lumen endotracheal tube, and intercostal drains were inserted on both sides of his chest for emergency pneumothorax. Arterial blood gas analysis performed under mechanical ventilation with a fraction of inspired oxygen (FiO2) of 1.0 showed a pH of 6.897, PaCO2 of 96.4 mmHg, PaO2 of 96.8 mmHg, BE of − 13.6 mmol/L, and lactate level of 74 mg/dL. After we perform these procedures, early CT examination was performed using the sliding CT scanner on the same trauma table without relocating him 20 min later from arrival. CT revealed the following injuries: bilateral hemopneumothorax, bilateral lung contusion, and left multiple rib fractures. Because the right chest tube revealed massive air leakage, we performed CT image processing by minimum intensity projection. As a result, we diagnosed right bronchus intermedius injury that required emergency thoracotomy (Fig. ).
His oxygenation at this point was severely low with PaO2/FiO2 ratio (P/F) of 109. Considering the bilateral lung injury, he was at very high risk of low oxygenation during transport to the operating room and changing to left lung ventilation. We therefore decided to perform emergency thoracotomy under left lung ventilation in the operating room after our trauma team first stabilised his oxygenation with VV ECMO support in the Hybrid ER. Under moveable C-arm fluoroscopy and ultrasonography in the Hybrid ER, with percutaneous technique, a drainage cannula was placed in his right femoral vein and a return venous cannula was placed in his right internal jugular vein with the tips of both cannulae positioned in the right atrium (Fig. ). Subsequently, the patient’s P/F ratio improved to more than 250, and he was transported to the operating room under VV ECMO. Anaesthesia was induced, and left lung ventilation was performed. Under VV ECMO support (ECMO flow of about 2 L/min; FiO2: 0.8), his oxygen saturation was maintained at over 98%. We did not use anticoagulants for the first 7 h. We started with a right lateral thoracotomy and found that there was a complete tear of the right bronchus intermedius (Fig. ). To shorten the operating time, we performed middle lobe and lower lobe resection and sutured the stump of the right bronchus intermedius. To protect the ligated intermedius bronchus, we covered it with an intercostal muscle flap. During the operation for the tracheobronchial injury, left hemorrhagic pleural effusion increased at a rate of 200 ml in 1 h. Sequentially, we performed left anterolateral thoracotomy and performed surgical bleeding control for intercostal artery injury caused by the multiple left rib fractures. The operation required the transfusion of 12 units of blood and 6 units of fresh frozen plasma. After the surgical repair, the patient’s respiratory function recovered, and VV ECMO was removed on postoperative day 5. His Injury Severity Score was 26, Revised Trauma Score was 3.8, and the probability of survival by the Trauma and Injury Severity Score method was 59.45. Because of flail chest resulting from the multiple rib fractures, positive pressure ventilation was required for 3 weeks. He was completely weaned off mechanical ventilation on postoperative day 31. After in-patient rehabilitation, he was discharged home on postoperative day 68 without sequelae. |
pmc-6480487-1 | The patient is a 9-year-old obese African-American boy with a 9-month history of nephrotic syndrome due to focal segmental glomerulosclerosis (FSGS), diagnosed by renal biopsy. He had no prior psychiatric history, although two maternal great aunts had been diagnosed with schizophrenia. His home medications included CsA 125 mg QAM and 100 mg QHS, prednisolone 60 mg daily, amlodipine 5 mg BID, and lisinopril 5 mg daily. He was admitted to the local children’s hospital for management of prolonged staring, mutism, unusual arm posturing, insomnia, and abnormal gait. Significantly, 7 days prior to presenting to our facility, his CsA plasma concentration was 1224 ng/mL (therapeutic range: 100–200 ng/mL) on routine testing. Around this time, according to his parents, the patient had become increasingly anxious. They noted he repeatedly expressed concerns about having “a hole in my neck” and that, when he swallowed, it felt “like it’s only going down one side.” His parents brought him to an outside ED where a rapid strep test was positive and a computed tomography (CT) scan of the head was unremarkable. He was treated with penicillin G and discharged home.
Upon presentation to our facility, the child was alert and grossly oriented. Physical exam was significant for signs of generalized volume overload, with 2+ lower extremity pitting edema. He displayed significant negativism, keeping his eyes closed when the examiner attempted to open them, refusing to open his mouth to command or prying, and biting down hard on a tongue depressor. Vital signs were within normal limits. Initial laboratory exam including blood chemistry, CBC, blood culture, HSV PCR, urine toxicology, and thyroid function tests was remarkable only for hypoalbuminemia. Plasma CsA level was 64 ng/mL. Serum autoimmune encephalitis panel was obtained, returning negative one week later. Chest x-ray was unremarkable. Head CT scan and a magnetic resonance imaging (MRI) scan of the brain with and without contrast were remarkable only for mild-to-moderate prominence of cerebrospinal fluid (CSF) spaces and mild thinning of the corpus callosum without focal abnormalities. At that time, the patient’s home CsA was discontinued due to concern for potential neurotoxicity, and intravenous (IV) methylprednisolone 48 mg daily was substituted for oral (PO) prednisolone as the patient refused to swallow, repeatedly spitting out his medications. He was started on empiric acyclovir, vancomycin, and ceftriaxone for possible meningitis. The initial differential diagnosis was broad and included toxic/iatrogenic causes of psychosis and altered mental status (especially corticosteroids and CsA), primary psychiatric disorders, infectious and autoimmune causes of encephalitis, seizures, vitamin deficiency (e.g. B6, B12, or thiamine deficiency, which may be associated with nephrotic syndrome), or malignancy.
Over the first 24 h of admission, the patient displayed further mental status changes, sleep disturbance, and episodic agitation and confusion. He appeared to be responding to internal stimuli, sitting up in bed suddenly, crying, kicking, and punching indiscriminately. During these times, he would not follow commands, while at times displaying echolalia and verbigeration. He became progressively more agitated, pulling out his IV line, biting off his identification bracelet, and yelling profanity at his mother. This behavior was in stark contrast to the patient’s usually shy and reserved demeanor. During the next 24 h, he exhibited Cotard delusion, telling his parents he had died from “a bomb in my neck” and that he was now a “zombie.” Throughout that day, he displayed increasing mutism and odd mannerisms, raising his hands above his head and out to his sides as if meditating. Psychiatry was consulted and diagnosed catatonia, recommending treatment with lorazepam. However, the patient’s primary team elected to defer this treatment.
On hospital day 3, the patient received propofol 80 mg IV in preparation for a lumbar puncture for further work-up. Within seconds, he became alert and sat up in bed saying, “I feel better now.” He followed commands and was oriented to person, age, place, and year. He recognized his nephrologist by name and was able to recall discussions between his medical team and his parents from earlier in the admission. This drastic change in mental status lasted only a few minutes but led the team to abort the lumbar puncture, ascribing a “behavioral” cause to his presentation and deeming an infectious or autoimmune process unlikely. Factors thought to support this contention included absence of fever, normal laboratory tests, and a months-long corticosteroid treatment (felt to be protective against an autoimmune process).
Our psychiatry consult/liaison team was brought back on board and performed a lorazepam challenge test with 2 mg IV, resulting in temporary resolution of catatonic symptoms and markedly improved mental status. Lorazepam was continued at 2 mg IV 3 times/day (TID). Catatonic symptoms returned on hospital day 4, with the patient displaying alternating mutism, excitement, immobility, stereotypic movements, echolalia, verbigeration, odd mannerisms, negativism, and mild rigidity. His Bush-Francis Catatonia Rating Scale (BFCRS) score was 26. At this point he began to show autonomic instability with a temperature of 37.9 °C, systolic blood pressure ranging from 95 to 147 mmHg over a period of 1 h, and heart rate fluctuating between approximately 60 and 160 bpm over 2 to 3 min despite lying supine and motionless. Lorazepam was increased to 3 mg IV TID with resolution of autonomic instability. On hospital day 5, with close consultation between the primary general pediatrics team, nephrology, and psychiatry, mycophenolate mofetil 500 mg IV BID was started as an alternative to the patient’s home CsA for SRNS, given CsA’s known neurotoxicity risk []. Mycophenolate mofetil was subsequently switched to oral (PO) formulation and titrated to 1000 mg PO BID over the following 10 days.
By hospital day 7, the BFCRS score was 11. Over the following 3 weeks lorazepam, was switched to PO formulation and increased to a maximum dose of 3.75 mg PO TID. Despite the increase, the patient continued to show only partial resolution of catatonic symptoms, with continued negativism, slowed movements, somatic delusions, and periodic visual illusions (mistaking wrinkles in his bedsheets for snakes). Due to psychomotor slowing and sedation, lorazepam was decreased to 3 mg PO TID. Due to concern about corticosteroids also potentially causing catatonia and psychosis [], methylprednisolone was gradually decreased from 48 mg daily to 20 mg daily, then switched to prednisone 25 mg PO daily on day 20. Additionally, mycophenolate mofetil was held for 5 days between days 20–24 as the patient’s parents reported the patient’s mental status seemed to deteriorate when he was given this medication; however this hiatus did not result in any clinical improvement.
After several family and multidisciplinary treatment team meetings, prompted by parents’ concerns about adverse drug effects and potential for inducing neuroleptic malignant syndrome (NMS) in catatonic patients, quetiapine 12.5 mg QHS was started as an adjunctive treatment for catatonia and psychosis on hospital day 28. Over the following 3 weeks, quetiapine was switched to extended-release formulation and titrated up to 300 mg at bedtime, with lorazepam continued at 3 mg PO TID. The patient demonstrated gradual improvement in catatonic signs/symptoms, and by hospital day 39 he was increasingly interactive (although with continued paucity of speech and increased speech latency), no longer exhibiting somatic delusions or sensory misperceptions. By hospital day 68 all signs/symptoms of catatonia had resolved, and the patient’s parents felt he was at his mental status baseline. He was discharged home on day 78, having remained as an inpatient to manage volume overload due to nephrotic syndrome. Psychotropic medications at discharge were lorazepam 3 mg TID and quetiapine extended-release 250 mg QHS. Over the following 3 months the patient was tapered off both medications, with no recurrence of symptoms six months later (Table ). |
pmc-6480514-1 | A 40-year-old Caucasian man reporting pain, swelling, and functional reduction without severe effects on the range of motion was evaluated. Fourteen years ago, the patient had been diagnosed with medial femoral condyle OCD, which was treated under arthroscopic osteosynthesis with three Herbert screws. Four years after the first intervention, and reporting unsatisfactory clinical progress, the patient underwent a valgus osteotomy of the tibia and an exploratory arthroscopy in which two of the three screws of the medial femoral condyle were removed. In spite of the latter treatment, the knee pain and swelling lingered, so we assessed the size of OCD by obtaining cartilage-specific axial computed tomographic (CT) scan sequences, which evinced a cartilage defect 1.83 cm deep and 1.52 cm wide in the medial femoral condyle associated with a mobile fragment. We made the decision to perform an open knee surgery using an osteochondral allograft (OCA) assisted with PRP.
PRP was prepared according to Endoret®(pgrf®) technology (BTI, Vitoria-Gasteiz, Spain) []. Before inducing anesthesia and starting prophylactic antibiotic treatment and saline, 80 ml of peripheral venous blood was withdrawn into 9-ml tubes containing 3.8% (wt/vol) sodium citrate as anticoagulant. Blood was centrifuged at 580 g for 8 min at room temperature. In each tube, the 2-ml plasma fraction located just above the sedimented red blood cells was collected in a tube without aspirating the buffy coat. This PRP contained 1.5 to 2.5 times the concentration of platelets compared with peripheral blood and an absence of erythrocytes and leukocytes. The activation of PRP was carried out by adding calcium chloride (10% wt/vol). Some of the liquid was incubated at 37 °C for 30 min in a glass dish, which allowed a fibrin membrane to form. The rest of the liquid PRP was infiltrated during surgical intervention as follows.
An arthrotomy was performed following the previous incision made to conduct the valgus osteotomy. The plaque and screws of the valgus osteotomy were removed as well as the Herbert screw, which protruded from the hyaline cartilage. A debridement, spongialization, and reaming of the osteochondral wound bed was performed in order to achieve a defect of 2 cm in diameter as the allograft (Fig. a and b). Then, Pridie-type drilling microfractures followed by infiltration of 4–5 ml of activated PRP into subchondral bone (Fig. c) was carried out. Afterward, we placed the fibrin membrane obtained as described above into the wound bed (Fig. d). Once the 1.25-cm deep femoral plug OCA was infiltrated with PRP (Fig. e), we press-fit it into the reamed area and sealed the interface around the allograft with activated PRP (Fig. f). When surgery was completed, we carried out an intra-articular infiltration of 8 ml of activated PRP. A further three intra-articular infiltrations of 8 ml of activated PRP were conducted on a weekly schedule during the postoperative period on an outpatient basis. Assisted walking with crutches and a minimal initial load was recommended during the first 4 weeks postintervention. A rehabilitation program with passive mobility and avoiding axial movements was initiated 2 weeks after the surgery. After week 4, partial support and resistance-free cycling, together with swimming pool exercises, were allowed.
The CT scan taken 1 year after the surgery revealed an area of abnormal signal intensity that was reduced in CT scans obtained 2 years later. In addition, the CT scan obtained 2 years later showed a clear reattachment and incorporation of the graft in an asymptomatic patient (Fig. ). Magnetic resonance imaging (MRI) scans obtained 3 years after the surgery and examined by an experienced radiologist showed that the fragment remains well integrated, and the cartilage line under the graft was perceived (Fig. ). Seven years after the surgery, the allograft was still incorporated into the joint without signs of failure. The patient resumed a daily routine without any recurrent symptoms of pain or swelling and with a suitable range of motion from 0 degrees of extension to 130 degrees of flexion. |
pmc-6480742-1 | A 55-year-old nulliparous postmenopausal woman with no medical history was managed for FIGO (International Federation of Gynecology and Obstetrics classification) stage IIIB cervical cancer. Cervical biopsies showed HPV18-related moderately differentiated invasive adenocarcinoma. Magnetic resonance imaging (MRI) revealed a 4 cm anterior mass extending to the uterine isthmus, uterine corpus, left parametrium and superior third of the vagina. No other lesion was visualized on abdominal computed tomography (CT) and positron emission tomography (PET-CT). Concomitant external beam pelvic radiation (45 Gray (Gy) in 1.8 Gy daily fractions) and six cycles of chemotherapy (weekly cisplatin 40 mg/m2) were administered. The patient was reevaluated by MRI at the end of treatment, showing less than 50% size response with persistent parametrial involvement. Adjuvant brachytherapy (25 Gy) and external beam pelvic radiation (8 Gy in 3 daily fractions) was therefore decided. Two months later, the lesion had completely resolved on MRI. After 3 years of follow-up, MRI revealed a pelvic mass with no increased uptake on PET-CT. Bilateral salpingo-oophorectomy was performed based on a diagnosis of right ovarian mass without peritoneal carcinomatosis or other distant disease. Histological examination concluded on invasive mucinous adenocarcinoma.
To determine the origin of the ovarian lesion and in view of the synchronous HPV18-positive cervical carcinoma, molecular analyses were performed, showing that the ovarian tumor was HPV18-positive, strongly suggesting a primary cervical origin. As previous analyses of the cervical tumor identified the HPV integration site in chromosome 13, the ovarian tumor was screened to determine whether the ovarian metastasis presented the same HPV integration site. The same HPV integration site at locus 13q22.1 was demonstrated in ovarian tumor DNA, clearly confirming that the ovarian mass was a metastasis from the cervical adenocarcinoma (Fig. ). Six cycles of chemotherapy (weekly paclitaxel and carboplatin) were therefore administered. Eighteen months later, the patient presented recurrence in the form of peritoneal carcinomatosis and a rectal nodule confirmed histologically at laparoscopy. Treatment of the recurrence consisted of six cycles of carboplatin and paclitaxel, which was early stopped because of neuropathy toxicity. After a therapeutic break requested by the patient, she was included in a phase 1 study for advanced gynecological cancers ( identifier: NCT 02978755). The patient is still on treatment. |
pmc-6480742-2 | A 45-year-old smoking primiparous woman with no medical history presented with ascites and a left ovarian mass. Histological examination of the mass revealed grade 1 ovarian endometrioid carcinoma. Staging surgery with total hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and pelvic and para-aortic lymphadenectomies were therefore performed. No peritoneal carcinomatosis was observed.
HPV18-positive in situ endometrioid adenocarcinoma was found in the endocervix and HPV18-positive invasive endometrioid adenocarcinoma was found in the endometrium and both ovaries on final histological examination. The same HPV integration site in locus 2q22.3 was demonstrated in the ovarian tumor DNA, clearly confirming that the ovarian mass was a metastasis from the cervical adenocarcinoma (Fig. ). The patient was then treated with radiotherapy and brachytherapy. |
pmc-6480742-3 | A 30-year-old nulliparous woman with no medical history, regularly screened by PAP-smear test presented with postcoital metrorrhagia. In situ carcinoma was diagnosed on cervical biopsies. MRI and abdominal CT imaging were normal. A large loop cervical excision and endometrial curettage were performed and confirmed the presence of a well differentiated HPV18-related in situ adenocarcinoma and high-grade cervical intraepithelial neoplasia (CIN III) with negative surgical margins. No obvious infiltration was observed on the examined slides. Nine years later, after several failures of in vitro fertilization, the patient experienced abdominal pain. Ultrasound imaging revealed a 9.5 cm complex left adnexal mass. Examination of the laparoscopic left salpingo-oophorectomy revealed mucinous cystadenoma of the intestinal type with borderline character traits and extensive foci of intraepithelial carcinoma. Seventeen months later, after being lost to follow-up, a 10 cm right ovarian mass was discovered. Total hysterectomy, right salpingo-oophorectomy, appendectomy, omentectomy were performed, revealing a 2.5 cm HPV18-related cervical cancer extending to the uterine isthmus with mucinous proliferation of intestinal type involving the cervix and right ovary. The HPV insertion site could not be determined due to insufficient tumor tissue. One month later, the patient was referred to our oncologic surgery department, where complementary laparoscopic pelvic and para-aortic lymphadenectomies were performed. Carcinomatous metastasis and intestinal involvement were discovered during laparoscopy. The patient was treated with FOLFOX chemotherapy for 3 months and then underwent complete cytoreductive surgery with peritonectomy, multiple bowel resections and intraperitoneal hyperthermic chemotherapy due to a partial response to chemotherapy. Examination of the resected tissues showed carcinomatous cells partly modified by chemotherapy and a high mitotic index (Ki 67: 70%). The patient is currently on follow-up. |
pmc-6480768-1 | A 68-year-old man had an open fracture of the right humerus due to a fall. The patient was sent to the hospital as an emergency case. The doctor performed debridement and suture of the patient’s wound. When all of the test indexes were normal, surgery of the humeral fracture was undertaken. Large bone defects in the middle and lower parts of the humerus were found during the operation. (Fig. ) After proper shortening of the fracture end, a bone plate implant was embedded for internal fixation. (Fig. ).
A week later, wound secretions exuded through the original drainage tube. Escherichia coli was isolated from the wound secretion by culture. E. coli isolates were multidrug resistant as determined by antimicrobial susceptibility testing using the disk diffusion test. The procedure and interpretation of the results of the antimicrobial susceptibility tests were conducted in accordance with the CLSI 2018 guidelines []. Antimicrobial drugs and Mueller–Hinton media for the disk diffusion test were obtained from Oxoid Company, UK. The results showed that the strain was resistant to cefazolin, cefotaxime, cefepime, aztreonam, ampicillin, piperacillin, ciprofloxacin, levofloxacin, moxifloxacin, chloramphenicol, tetracycline and trimethoprim/sulfamethoxazole, but sensitive to gentamicin, amikacin, imipenem, meropenem, ceftazidime, amoxicillin/clavulanate, piperacillin/tazobactam, cefoperazone/sulbactam and cefoxitin. Negative pressure attraction was performed with a progressive artificial skin cover and cefoperazone/sulbactam was used for treatment. Cefoperazone/sulbactam, which combined cefoperazone (2000 mg) with sulbactam (1000 mg), was used via intravenous infusion, once every 12 h.
Two weeks later, the drainage tube had been closed but yellowish cloudy secretions exuded on the lateral side of the arm incision. The doctors suspected that the deep wound was infected, therefore, re-debridement of the patient’s wound and external fixation of the fracture were performed (Fig. ).
Ten days later, another secretion from the wound was observed (Fig. ). RGM were isolated from the secretion by culture and were identified as belonging to the M. fortuitum group using an IVD-MALDIBIOTYPER (Bruker, Karlsruhe, Germany). The isolated strain was identified as M. houstonense by sequencing analysis. Monoclonal colonies were scraped and genomic DNA of the isolate was extracted using a commercial kit (DNeasy Blood and Tissue Kit; Qiagen, Germany). Primer design was based on the reports of Lane(1991) and CLSI MM18-A, and the primers for 16S rRNA PCR were as follows 27F: AGAGTTTGATMTGGCTCAG, 1492R: TACGGYTACCTTGTTACGACTT. The amplification conditions for PCR were based on those of previous reports [, ], and a PCR cycler (PTC220, Bio-Rad, USA) and first generation sequencer (Life Technology 2500 DX, ABI, Japan) were used. The amplified products were determined by comparing their restriction patterns with those available in the National Center for Biotechnology Information GenBank database. The results revealed sequence similarity (above 98.58%) with M. houstonense (GenBank accession no. NR_042913.1).
The TREK Diagnostic System (Thermo, Germany) was used to test the antimicrobial drug susceptibility of M. houstonense by the microbroth dilution method. The antimicrobial drug sensitivity results were interpreted according to the CLSI M24 A2 guidelines []. The results, detailed in Table , showed that M. houstonense was only sensitive to levofloxacin, moxifloxacin and amikacin.
A daily intravenous drip of 0.3 g of levofloxacin and injection of 100 ml of sodium chloride, and injection of 0.2 g of amikacin and 250 ml of sodium chloride twice a day, were used for treatment. Three weeks later, the wound was healing well and no secretions were detected. |
pmc-6480770-1 | An 18-year-old woman was referred to our hospital with the complaint of central visual field defect in the right eye for 1 week and in the left eye for 3 days.
Her medical history was unremarkable except for pediatric asthma and appendicitis. She reported no raw meat consumption and had a dog until a year ago. She received vaccination for human papillomavirus 3 years ago. The best corrected visual acuity was 20/22 in both eyes.
The anterior segment examination was unremarkable in both eyes. The fundus examination showed bilateral grayish-white retinal lesions around the macula, and the optical coherence tomography showed corresponding hyperreflectivity and thinning of the outer retina (Fig. ). The features of tuberculous serpiginous-like choroiditis such as vitreous hyper-reflective spots, intraretinal edema, sub-retinal pigment epithelium drusenoid deposits, and choroidal granulomas were not present []. The lesion was hypofluorescent and hyperfluorescent in the early and late phases, respectively, on fluorescein fundus angiography (FA). The lesion was hypofluorescent from the early to late phase on indocyanine green angiography (ICGA) (Fig. ).
The intraocular pressures were 18 and 15 mmHg in the right and left eyes, respectively.
No abnormalities were detected with blood tests except for a mild increase of C-reactive protein (0.4 mg/dL) and white blood cells (10,020/μL). We performed QuantiFERON tests at the initial presentation and 2 weeks later, which showed negative results.
She was diagnosed with serpiginous choroiditis and treated with prednisone 40 mg/day.
On the 6th day, the retinal lesion was enlarged, and the outer retinal damage had progressed (Fig. b). Thus, transvenous methylprednisolone (mPSL; 1 g/day) was administered for 3 days.
After the initiation of the steroid pulse therapy, the subjective symptoms improved. However, the grayish-white retinal lesions continued to enlarge in both eyes. The disease progression was not controlled despite 3 more days of mPSL (1 g/day), following 60 mg of oral prednisone. Sub-Tenon’s triamcinolone acetonide injection (20 mg) was administered to the left eye and then to the right eye. (Fig. c).
We added oral cyclosporine (300 mg), and prednisone was switched to betamethasone (7 mg). The trough blood cyclosporin concentration was monitored and controlled at around 200 ng/mL. While the initially affected areas changed to atrophic scars, new lesions appeared adjacent to or away from the initial lesion (Fig. d). Subcutaneous injections of adalimumab (80 mg) were started on the 27th day, and intravitreal injections of triamcinolone acetonide (20 mg) were administered in the right eye on the 34th day, but they could not stop the disease progression. Oral cyclosporine (300 mg) and betamethasone (3 mg) and biweekly subcutaneous injections of adalimumab (40 mg) were continued, but the retinal lesions progressed up to 8 months (Fig. e). Her visual acuity declined to 20/66 and 20/200 in the right and left eyes, respectively. Both eyes showed a similar course during the observation period. The disease progressed up to the 9th month, but no new lesions were observed thereafter (Fig. f). |
pmc-6480815-1 | A 9-month-old Caucasian girl presented to our pediatric unit with fever, pallor, bilateral non-secreting conjunctivitis, and rash. Anamnestic records revealed that 12 days before she had remittent fever, which spontaneously resolved in 5 days. Fever started again after 3 days, associated with pharyngitis, and, later, with cervical adenopathy, diarrhea, and vomiting. She was treated with amoxicillin plus clavulanic acid and steroids, without defervescence. At admission, 9 days after fever onset, she showed fever, conjunctivitis, pharyngitis, generalized rash, and bilateral cervical adenopathy. Hematological parameters revealed: leukocytes, 18,000/mm3 with neutrophils of 8520/mm3, lymphocytes of 6250/mm3, and monocytes of 1930/mm3; hemoglobin, 9.1 g/dl; platelets, 318,000/mm3; and transaminases, albumin, natremia, and urine analysis in the normal range. Her C-reactive protein (CRP) was 2.31 mg/dl; her erythrocyte sedimentation rate (ESR) was 120.
An electrocardiogram (ECG) and echocardiography were normal, including coronary Z-scores. IgM and IgG against Epstein–Barr virus, cytomegalovirus, and parvovirus were tested, and she showed positive IgM against parvovirus. This was confirmed at further testing after 10 days. She was treated with clarithromycin and obtained quick defervescence. A diagnosis of parvovirus infection with severe anemia was made. For this reason and because of the prompt defervescence, it was exclusively treated as a viral infection. During follow-up, further cardiologic evaluation was done because of the risk of pericarditis secondary to the parvovirus infection, and at day 26 after fever onset, CAL were documented, with: a proximal right coronary artery Z-score of 6.02; left main coronary Z-score of 5.72; and left anterior descending Z-score of 5.78. Coronary artery Z-scores are commonly used for decisions in KD management and decisions on treatment, even if Z-scores show variations based on the Z-scores formula used for larger coronary artery dimensions []. However, the Z-score value for CAL is useful for the follow-up of a patient and for testing the response to treatment.
The child was promptly treated with IVIG at the dosage of 2 g/kg plus acetylsalicylic acid (ASA) at the dosage of 5 mg/kg per day. Despite treatment, a further echocardiographic evaluation showed worsening of CAL: proximal right coronary artery Z-score of 5.93; left main coronary Z-score of 5.63; and left anterior descending Z-score of 5.39, which showed a saccular aneurysm of 2.9 mm of diameter (Z-score of 5.08).
A laboratory test did not show inflammation, but the girl was treated with three bolus doses of intravenously administered methylprednisolone at 30 mg/kg per dose. The Z-score of CAL did not change. Informed consent by parents was obtained, and our patient was treated with anakinra at the dosage of 4 mg/kg per day. She showed a progressive improvement of CAL and after 25 days of anti-IL-1 treatment, her proximal right coronary artery Z-score was 0.93, left main coronary Z-score 4.02, and left anterior descending Z-score 2.93. Treatment was continued for 2 months, at which point Z-scores normalized (see Table ).
The first diagnosis in this patient was a parvovirus-related infection, which explained the clinical manifestations and the clinical course of the disease. The diagnosis of KD was reached late; a control echocardiogram showed CAL. Mild CAL are described in systemic juvenile arthritis, in febrile diseases, and in infectious diseases such as Mediterranean spotted fever []. Aneurysms, conversely, are typical of KD.
IVIG did not arrest the worsening of CAL, which were stabilized after three doses of methylprednisolone. However, our patient received IVIG 26 days after the fever started and this delay can explain the poor response. In fact, a delay in IVIG infusion is recognized as a risk factor for non-response to first-line treatment, as demonstrated in our population [, ].
A 7-year-old Caucasian boy, the brother of Case number 1, presented fever (38 °C) and vomiting at the same time as his sister, which spontaneously resolved after 4 days. Four days later, he again had fever, abdominal pain, tachycardia, and tachypnea. He was admitted to our cardiologic unit. He showed pallor, tachypnea, stasis at the pulmonary bases, tachycardia (180 beats/minute), gallop rhythm, hypotension, and secondary anuria hepatomegaly with pain at palpation. Hematological tests evidenced: leukocytes of 24,680/mm3 with neutrophils of 19,744/mm3, lymphocytes of 3430/mm3, and monocytes of 960/mm3; hemoglobin, 10.4 g/dl; platelets, 632,000/mm3; CRP, 0.24 mg/dl; aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma-glutamyltransferase (gamma-GT) in the normal range; creatine phosphokinase (CPK), 773 mg/dl; creatinine, 0.77 mg/dl; and blood urea nitrogen (BUN), 111 mg/dl. He had elevated myocardial necrotic enzymes (c-troponin T, 91.4 ng/l) and pro-brain natriuretic peptide (BNP) > 70,000.
An echocardiogram revealed that the left ventricle had a normal diameter (telediastolic diameter, 40 mm; Z-score, 0.37) and generalized hypokinesia, with a severe reduction of the ejection fraction (EF) (20–25%); the left atrium was dilated (diameter, 35 mm; Z-score, 3.3) and the mitral valve had a moderate insufficiency. The right ventricle had normal dimension; the tricuspid valve showed a moderate insufficiency. His suprahepatic veins were dilated. No pulmonary hypertension was documented. He received dopamine (5 gamma/kg per minute), dobutamine (7 gamma/kg per minute), furosemide (1 mg/kg) plus steroids (2 mg/kg). Clinical signs, echocardiographic parameters, and plasmatic enzymes showed a progressive but slow improvement. Sixteen days later, his EF was 45%; however, a persistent septal hypokinesia was documented. He continued to receive treatment with furosemide and enalapril. Specific serological tests were performed to exclude Epstein–Barr virus (for the skin rash, associated with fever and hepatic cholangitis) [] and coxsackie virus infection (for fever and myocarditis) []. A nasal swab for influenza and parainfluenza virus was negative. However, the index case of the sister suggested we should run a serology test for anti-parvovirus, and we found increased IgM anti-parvovirus with low IgG.
A cardiologic follow-up revealed: a further EF improvement (50%); left ventricle was 38 mm (normal value: 32.7–45.5); Z-score, 0.15. His right atrium and ventricle were in the normal range for diameters and kinesis. |
pmc-6480833-1 | A 50-year-old, previously healthy female was presented to our institute to further investigate sputum-coughing, fever, and pulmonary shadow on October 25, 2016. The patient used to be exposed to a work-related humid environment but had no smoking history. The female presented a 1-month history of coughing, fever (highest temperature 37.4 °C), and weight loss (4 kg). She was admitted to a local hospital, and computed tomography (CT) of the chest revealed a mass in the left lung. Lung cancer and obstructive pneumonia were confirmed by clinical diagnosis. However, her condition did not improve after antibacterial treatment.
On examination, an enlarged supraclavicular lymph node was observed on the right. The lower left lung revealed low breath sounds. The serum carbohydrate antigen 125 (CA125), CA153, and CA19–9 levels were 94.5 (reference 0–30.2 U/mL), 37.2 (reference 0–32.4 U/mL), and 49.9 U/mL (reference 0–37.0 U/mL), respectively. The blood was HIV negative. The CD4+ and CD8+ T-lymphocyte counts were 744 and 576 cells/μL, respectively. The plasma galactomannan test result was positive. The level of C-reactive protein was 7.68 mg/L. However, the serum cryptococcal antigen agglutination test, acid-fast bacillus test of sputum, bronchoalveolar lavage fluid smear, and blood and sputum cultures for fungus and bacteria were negative. The serum level of immunoglobulin (Ig)G, IgA, and IgM was normal. Other routine laboratory tests were normal, including the complete blood count, blood sugar, aspartate aminotransferase, alanine aminotransferase, creatinine, antinuclear antibodies, extractable nuclear antigen antibodies, anti-neutrophil cytoplasmic antibodies, anti-ds-DNA antibodies, and cardiolipin-antibodies. The mass identified by CT in the left lower lung (Fig. a), was accompanied by left pleural thickening, pleural effusion, and multiple swollen lymph nodes throughout the body, while no abnormal brain CT, liver B-ultrasonic, and emission CT images were observed. Bronchoscopic examinations showed evident nodular projections in the bronchus orifices of the left lower lobes (Fig. f). Lymphoepithelioma-like carcinoma and chronic granulomatous inflammation were found by histological examination of the endobronchial nodule. Immunohistochemistry revealed that the cytokeratin (CK) CK5/6, P40, and Epstein–Barr virus-encoded RNA were positive, whereas TTF-1, p63, CK7, CK56, syn, and epidermal growth factor receptor (EGFR) were negative. Pharyngorhinoscopy and pathology of the nasal mucosa showed no tumor. Several yeast-like organisms with red cell wall and clear PAS-negative cell content were identified in the biopsy tissue (Fig. g). We concluded a definite diagnosis of primary pulmonary lymphoepithelioma-like carcinoma with T. marneffei infection.
Her condition improved after a week of treatment with voriconazole (200 mg IV) at every 12 h. Docetaxel (120 mg) and carboplatin (600 mg) were prescribed as the first cycle of chemotherapy. Pulmonary shadow was significantly improved (Fig. b) and the size of mediastinal lymph nodes reduced. The patient was prescribed oral itraconazole therapy and discharged. However, myelosuppression occurred during the fifth cycle of chemotherapy and fungal disease subsequently relapsed. She was unwilling to undergo further chemotherapy because of the poor tolerance and attempted to take apatinib orally. The pulmonary lesions remained stable until nine and a half months (Fig. c, d). Percutaneous lung biopsy revealed lymphoepithelioma-like carcinoma but no T. marneffei, which suggested tumor relapse and talaromycosis marneffei cure. Itraconazole treatment was withdrawn and a single dose of docetaxel (120 mg) was prescribed.
The patient is still being followed up (Fig. e). |
pmc-6480864-1 | A 35-year-old Japanese woman was referred to our hospital for evaluation of low serum ALP at an annual medical checkup for workers. Her serum ALP levels had not been determined before. She did not have symptoms except for mild muscle and bone pain in both lower limbs since childhood, which did not interfere with her daily life. Her physical activity level was normal. She had no history of rickets, fractures, or dental problems. Specifically, she did not have premature loss of her primary dentition, although she had had developmental dysplasia of the hip during infancy. She did not take any medication, including supplements, before admission. She did not smoke and denied alcohol abuse and use of illicit drugs. She had no known allergies. She has been working in the clothing industry for approximately 10 years and living with her parents in a residential area in Japan. Her mother is alive and has had breast cancer, and her older sister had Hashimoto’s thyroiditis. Her father had no major illnesses. Her parents had no history of fractures.
On initial examination, her vital signs were as follows: body temperature, 37.0 °C, blood pressure 115/80 mmHg, pulse 101 beats/min, height 150.3 cm, and body weight 44 kg (body mass index 19.6 kg/m2). Examination of the right femur and the left crus revealed spontaneous pain; however, there was no evidence of tenderness or pain with percussion. Examination of palpebral conjunctiva did not suggest anemia, and the bulbar conjunctiva was not icteric. The thyroid was not palpable, and the results of chest and abdominal examinations were normal. The results of neurological examinations, including muscle strength tests, deep tendon reflexes, and esthesia, were also normal except for spontaneous pain in bilateral legs, and no skin lesions were noted.
On initial visit, the patient’s complete blood count was normal (hematocrit, 41.4%; hemoglobin, 13.8 g/dl; red cell count, 4.91 × 106/mm3; white cell count, 6600/mm3; and platelet count 308 × 103/mm3) (Table ). Laboratory evaluation revealed that serum ALP was remarkably low at 13 U/L, serum iron was low at 40 μg/dl, and serum phosphorus was slightly elevated at 4.3 mg/dl, whereas serum calcium was normal at 10.2 mg/dl. Inflammatory markers (C-reactive protein, 0.02 mg/dl), liver function tests (albumin, 4.9 g/dl; total bilirubin, 0.3 mg/dl; aspartate aminotransferase, 13 U/L; alanine aminotransferase, 6 U/L), renal function tests (blood urea nitrogen, 8 mg/dl; serum creatinine, 0.61 mg/dl), electrolytes (sodium, 139 mEq/L; potassium, 4.3 mEq/L; chloride, 103 mEq/L), thyroid-stimulating hormone (2.35 μU/ml), and free thyroxine (1.59 ng/dl) were within the normal ranges (Table ).
X-rays of the limbs for further evaluation of potential bone abnormalities showed mild lateral bowing of both femurs (Fig. a). X-rays of the cervical and lumbar spine showed no scoliosis. Orthopantomography was normal (Fig. b). Measurement of bone mineral density (BMD) of the lumbar spine and the femoral neck after 1 year revealed osteoporosis below the expected range for age in a young adult (young adult mean [YAM], 87%; T-score, − 1.1; Z-score, − 1.1 in lumbar vertebra; YAM, 68%; T-score, − 2.5; Z-score, − 2.2 in femoral neck) (Table ). Abdominal ultrasonography revealed numerous microcalcifications in both kidneys.
On the basis of reduced BMD, additional blood chemistry tests and urinalysis were performed. The following bone metabolic markers were within normal limits: tartrate-resistant acid phosphatase-5b, 213 mU/dl (reference, 120–420 mU/dl); undercarboxylated osteocalcin, 2.14 ng/ml (reference, < 4.5 ng/ml); and type I procollagen N-terminal propeptide, 33.2 ng/ml (reference, 16.8–70.1 ng/ml). However, bone-specific ALP was low at 1.0 μg/L (reference, 2.9–14.5 μg/L) for her age. Analysis of amino acids in urine revealed that phosphoethanolamine was elevated at 727.8 μmol/g Cr (reference, 7–70 μmol/g Cr), which supported the diagnosis of HPP [].
Serum ALP of the patient’s mother was low at 86 U/L. Therefore, the patient underwent genetic testing, which revealed two mutations in tissue-nonspecific ALPL (exon 9, c.979T>C [p.Phe327Leu] and exon 11, c.1559delT) (Fig. c). These genetic abnormalities, which were previously reported, were consistent with HPP [, –]. On the basis of the clinical presentation, laboratory and imaging findings, and genetic analyses, the patient was definitively diagnosed with adult HPP. She comes to our outpatient clinic every 6 months, and we have checked her BMD and abdominal ultrasonography every year for 3 years. Her medical conditions have been stable. Although we have not given her any medicine, we plan to introduce enzyme replacement therapy using human recombinant TNSALP when her disease state worsens. |
pmc-6480970-1 | A 16-year-old male presented to the clinic. He was weak and nearly prostrate. He had a >10 day history of fever, dizziness, cough, dyspnoea and abdominal pain. Earlier in the morning, he had passed red urine. He was diagnosed with
P. vivax malaria at a government clinic in Myanmar 10 days previous. In addition to chloroquine, he was prescribed a course (number of tablets unknown) of primaquine tablets (7.5 mg) with verbal instructions from the health worker. This was presumed to be the 8-week primaquine regimen as per the Myanmar national malaria policy. At home, the patient took 30mg daily for 4 days (1mg/kg/day). He stopped because he felt unwell.
On arrival, the Glasgow Coma Score (GCS) score was 15/15. He appeared severely unwell and was unable to speak due to dyspnoea. Weight was 30 kg, temperature 37.5°C, heart rate (HR) 113 beats per minute, respiratory rate (RR) 36 breaths per minute, blood pressure (BP) 90/50 mmHg, and oxygen saturation (SaO2) 82–87% on 5LO2 by face mask. On physical examination the following were noted: icteric sclerae, conjunctival pallor, tachycardia with normal heart sounds and no audible murmur, clear lung sounds bilaterally, a soft abdomen with no hepatosplenomegaly, and pallor of the hands.
Initial blood work was performed (
); malaria smear was negative, haematocrit was 15%, and G6PD fluorescent spot test (FST) was normal (not deficient). He was resuscitated with normal saline and treated empirically with ceftriaxone 1gm intravenously. Within 4 hours of arrival, the patient was given one unit of blood to which he responded well. The donor was a female whose G6PD status was normal by FST and genotyping. Vital signs after blood transfusion were: HR 90 beats per minute, RR 24 breaths per minute, BP 100/50 mmHg, and SaO2 90% on 2LO2 by nasal cannula. Urine output was normal throughout the resuscitation period.
The patient’s clinical condition improved daily for the remainder of the hospital course. The DNA analysis showed that the patient was hemizygote for G6PD Mahidol variant. On the 8
th day of hospitalisation, the patient was discharged home. His haematocrit had increased to 30%. The patient was counselled not to take daily doses of primaquine, but that the 8-week course under supervision would be possible. He was given a ‘G6PD deficiency card’ describing the disease and drugs to avoid, which was to be presented at all future health care visits. It was emphasised that other members of the family might also have G6PD deficiency and should be tested. Weekly primaquine dosing for the radical cure of
P. vivax malaria could not be prescribed because close medical supervision during treatment was not possible. Health care workers with specific knowledge of haemolysis and access to hospital care were not available in their remote village. |
pmc-6480970-2 | This case is a 13-year-old male who presented to the clinic with a history of fever for the previous 4 days. He reported fatigue, cough, vomiting and passing some red urine. He was taken to a government clinic in Thailand on the first day of fever. He was diagnosed with
P. vivax malaria and given chloroquine plus primaquine 30mg daily for 14 days (15 mg tablets) as per the Thailand national guidelines. At home, the patient took primaquine 30mg daily for 2 days, then 30mg twice daily for 1 day (0.84mg/kg on the first 2 days, then 1.7 mg/kg for the 3
rd day). The patient then felt unwell and came to the SMRU clinic.
On physical examination, he was stable but weak with slight central cyanosis. His GCS was 15/15. Weight was 35 kg, temperature 38.8°C, HR 97 beats per minute, RR 23 respirations per minute, blood pressure 110/70 mmHg and SaO2 88% on 2LO2 by nasal cannula. On physical examination his conjunctiva and sclera were normal, heart sounds were normal, lungs clear to auscultation bilaterally, abdomen soft and without hepatosplenomegaly, and his palms were not pale or cyanotic.
At admission the malaria smear was negative, field haematocrit was 34%, and G6PD FST was deficient. Because of the cyanosis, a transcutaneous methaemoglobin measurement (Masimo®) was performed and found to be 17.1% (normal range 0–2%). He was started on Vitamin C 200mg three times daily for symptomatic methaemoglobinaemia. The primaquine was stopped and no other treatments were given.
On the following day (hospital day 2), results from the blood work were available (
). The CBC showed a high RBC count and low MCV. The reticulocyte count was 0.5%, which was unexpectedly low for the 4
th day of a haemolytic episode. The G6PD spectrophotometric assay confirmed the deficiency with an enzymatic activity of 0.39IU/gHb (normal value for males 8IU/gHb) and DNA analysis showed that the patient was hemizygote for G6PD Mahidol variant. Antibiotics were not prescribed as the CBC and CRP results were not suggestive of a bacterial infection. The haematocrit decreased further to 27% on hospital day 3 and was accompanied by red urine (
). The urine sediment was negative for RBCs (consistent with intravascular haemolysis). The next day, a blood transfusion was given. Vitamin C was stopped as it is a potential exacerbator of haemolysis
.
Post-transfusion, his field haematocrit increased to 30% and the transcutaneous methaemoglobin values had decreased to 2.1% which were within the normal range. There were no clinical signs of acute kidney injury although his creatinine increased from 0.58 to 0.97mg/dL. The patient did not recover as quickly as expected. On hospital days 5–7, his oxygen requirement decreased to room air. He continued to have a low-grade fever (37.5°C) and this may have been due to the haemolysis. His haematocrit declined to 21%. By hospital day 8, the fever resolved spontaneously and haematocrit increased to 24%. The patient’s clinical condition was stable, so he was discharged that day by request of the family. They were counselled with the same information as for Case 1 and the G6PD deficiency card was given. For the same reasons as Case 1, the 8-week primaquine regimen was not prescribed. |
pmc-6480979-1 | A 52-year-old gentleman with a history of deep venous thrombosis, APS, and diffuse B-cell type non-Hodgkin’s lymphoma presented to the hospital for evaluation of skin necrosis. Three months prior, he had an episode of NSTEMI. Coronary angiogram showed no significant atherosclerotic disease (). Direct oral anticoagulation was discontinued, which had been initiated for treatment of a deep venous thrombosis, prior to his NSTEMI. He was symptomatic with dyspnea prior to presentation and was noted to have progressively worsening dyspnea on exertion and rest during the hospital course.
On admission, the patient was afebrile, heart rate 91 beats/min, blood pressure 122/77 mm Hg, respiratory rate 18 breaths/min, and an oxygen saturation of 95% on 1.5 liters by nasal cannula. Physical examination revealed a significantly elevated jugular venous distention measuring approximately 15 cm, with a positive hepatojugular reflux. Auscultation revealed a grade 4/6 holosystolic murmur, heard best at the left ventricular apex, with an S3 gallop. There was trace pitting edema bilaterally, along with extensive necrotic skin lesions across the anterior chest and abdominal wall. Electrocardiogram showed normal sinus rhythm at 95 beats per minute with left anterior fascicular block.
A transthoracic echocardiogram (TTE) showed severe MR with a flail A2/A3 mitral valve leaflet and an eccentric and posteriorly directed MR jet, and mitral regurgitant volume was 73 mL/beat. The left ventricular ejection fraction of 42% with a significantly elevated right ventricular systolic pressure of 85 mm Hg ( and ). A transesophageal echocardiogram (TEE) demonstrated a flail A2/A3 segment of mitral valve and a ruptured posteromedial papillary muscle ( and ). Severe MR was present, which was posteromedially directed along with pulmonary venous systolic flow reversal consistent with severe MR (). There was no evidence of vegetation or intracardiac thrombus.
Cardiac magnetic resonance imaging (CMR) demonstrated subendocardial late gadolinium enhancement involving basal to mid-inferolateral wall of the left ventricle (). The study also confirmed severe primary MR secondary to ruptured posterior papillary muscle and flail mitral valve leaflets. The findings were consistent with possible prior ischemic event due to a cardioembolic phenomenon resulting in papillary muscle rupture and subsequent severe valve regurgitation.
Laboratory markers were positive for aPL and β-2 glycoprotein I antibody (β-2GPI) consistent with antiphospholipid syndrome. Antiphospholipid antibody immunoglobulin (Ig) M and β-2GPI IgM were both more elevated at a value of 28 and 22.2 MPL (IgM Phospholipid Units) than IgG levels of 9.8 and 9.4 GPL (IgG Phospholipid Units), respectively. Guideline-directed medical therapy was initiated, and the patient subsequently received a 31/33 On-X mechanical mitral valve (CryoLife Inc, Kennesaw, GA) replacement. He was discharged on lifelong warfarin therapy along with aspirin. One year postoperatively, he is currently New York Heart Association (NYHA) functional class I. |
pmc-6480980-1 | An 18-year-old white male was diagnosed with a 1.3 cm testicular tumor in July 2012. Pathology revealed a mixed, non-seminomatous germ cell tumor with elements of teratoma, embryonal carcinoma, and yolk sac; the dominant component of the tumor was embryonal. He was treated with orchiectomy in August 2012 and then underwent surveillance. In October 2012, he was found to have lymphatic enlargement on CT scan. In November 2012, chemotherapy was initiated with bleomycin, etoposide, and cisplatin. Follow-up CT scan showed an enlarged cystic inter-aorto-caval mass suspicious for teratoma. In January 2013, retroperitoneal lymph node dissection found 3/10 positive nodes, which were resected. Pathology showed pure teratoma. HCG levels on 2 occasions thereafter (ie, on January 17, 2013, and January 23, 2013) were undetectable. Later, the HCG levels became positive and gradually rose from 2.9 to 4.3 mIU/mL between July 24, 2013, and April 14, 2014 (). On April 24, 2014, a mass was felt on palpation of the left testicle, which was confirmed on ultrasound imaging. Accordingly, a left orchiectomy was performed on April 24, 2014. The pathology was reported as mixed germ cell tumor containing embryonal carcinoma, yolk sac tumor, mature teratoma, and immature teratoma with the dominant tumor type embryonal carcinoma (50%). Preoperatively his LH was 1.2 mIU/mL, his FSH 3.8 mIU/mL, and testosterone 435 ng/dL. He was then started on intramuscular testosterone injections followed by testosterone gel. Postoperatively his HCG was found to be elevated at 4.2 mIIU/mL and testosterone levels exceeded 1000 ng/dL. Serial HCG, LH, FSH, and testosterone levels are shown in . Furthermore, gonadotropin assays were performed by Esoterix laboratory (subsidiary of Labcorps) and found to be persistently elevated. No residual tumor was found on extensive imaging including serial CT scans of the abdomen and pelvis and also chest X-rays. The key question was whether the patient had a residual tumor lurking somewhere or whether the HCG was somehow falsely elevated. |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.