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PubMed
| 38,989,334
|
A 13-year-old female presented with concerns of hypermobility since the age of 10.
At the time, she was fairly active in sports. She reported stiffness and pain with activities in which orthopedic
evaluation revealed thoracolumbar scoliosis. Additionally, she experienced constipation for several years and
eventually began treatment with Miralax. The treatment had briefly managed her symptoms, but the patient
reported constant flares of constipation.\n\nSince experiencing back pain, the patient would additionally
have intermittent episodes of bilateral hand and foot swelling. These unprovoked episodes would occur two to three times
per month and lasted approximately one to two hours in duration. The patient reported a flare that resulted in back pain,
inability to walk, and a rash, which was treated with high-dose corticosteroids.
Sonogram of bilateral knee joints was negative for evidence of synovitis, tendinosis, and enthesitis.
The rash was accompanied by urticaria, which recurred on a daily basis without any particular trigger,
with episodes lasting three to four days. These episodes were described as \u201ctingly\u201d
and were most prominent in the hands and lips. No bruising or scarring was noted. She followed up with an allergy and
immunology physician for the management of her urticaria and angioedema. Her current management consisted of cetirizine 20 mg twice daily,
with plans to initiate omalizumab if her symptoms remained uncontrolled.\n\nShe was eventually seen for an endocrinology consultation due to a family history of type 1 diabetes and the presence of glucosuria. She was diagnosed with benign essential microscopic hematuria with no sign of renal dysfunction or nephrolithiasis. She was also shown to have consistent neutropenia, which was suggested to be ethnic neutropenia. Alport syndrome and familial hematuria were ruled out at that time.\n\nNephrology and rheumatology were constantly followed during this time for microhematuria and glucosuria. Additional symptoms included frequent urination, back pain, and flank pain. Her workup included renal ultrasound and voiding cystourethrogram, which both were negative for any disease processes. Lab workup during that time demonstrated normal renal function without proteinuria. The low-titer positive antinuclear antibody (ANA) was thought to be insignificant at the time given the absence of underlying autoimmune processes.\n\nMoreover, cardiology consultation and echocardiography revealed a mildly dilated aortic root with a systolic aortic root dimension of 3.04 cm (Figure 1). Otherwise, cardiac valves, atria, ventricles, and other cardiac structures were found to be of normal structure and function. Following the diagnosis of the mildly dilated aortic root, she met the criteria for hEDS and was a candidate for further genetic testing. Genetic testing revealed that she was heterozygous for COL9A2 with variant c.7C>A (p.Ala3Thr). The testing revealed that this is a variant of uncertain significance, but is known to be associated with multiple epiphyseal dysplasia (MED) and Stickler syndrome. In this case, the presence of a COL9A2 gene mutation raised the possibility of an association with MED and Stickler syndrome, although the patient's presentation did not include all typical features of these syndromes.\n\nAfter years of clinical workup, the patient was diagnosed with hEDS on the basis of her clinical presentation and genetic findings. This diagnosis was supported by her history of joint hypermobility, skin hyperextensibility, and the absence of other definitive genetic markers for alternative diagnoses. The management of hEDS is primarily supportive, focusing on symptom relief, physical therapy, and surveillance for potential complications. In this patient's case, a multidisciplinary approach involving genetics, rheumatology, nephrology, urology, cardiology, allergy, and orthopedics was essential for comprehensive care and management of her complex presentation.
|
PubMed
| 38,640,814
|
A 54-year-old female presents with a history of progressive hearing loss and dizziness for the last 1\u20132 years. The hearing symptoms are worse on the patient's left ear than right. She has symptoms including non-pulsatile tinnitus bilaterally. The dizziness was described as vertigo followed by lingering disequilibrium occurring a few times a day, lasting up to hours at a time triggered by elevation, motion, or emotional changes. Upon further questioning, she did feel pressure in her both ears, left worse than right. She does not have history of otorrhea, ear infections, ear surgeries, or autophony. She had a normal microscopic otologic exam with normal mobility of pneumatic otoscopy with negative fistula test. The neurological exam was normal. Tuning fork exam revealed Weber midline, Rinne negative (bone conduction greater than air conduction) at 512 and 1KHz on the left. Pre-stapedectomy CT scan images of the temporal bones are shown in Fig. 1 and pre-operative audiogram is shown in Fig. 2a. CT images showed left superior semicircular canal dehiscence, and no evidence of middle ear or mastoid pathology. Pre-operative left audiogram revealed an upward sloping moderately to mild conductive hearing loss (CHL).Management options were discussed at length with the patient including the risks and benefits of stapedotomy with prosthesis placement, risk of worsening/unmasking of left SSCD syndrome symptoms, and the patient elected to proceed with surgery. Under general anesthesia, left-sided middle ear exploration was performed. The stapes was fixed to palpation with no other middle ear abnormalities identified. The stapes superstructure was removed and a CO2 laser stapedotomy was performed with placement of a nitinol/fluoroplastic prothesis measuring 0.6 mm in diameter and 4.25 mm in length which was laser crimped to the incus without complication. The patient had no reports of new symptoms of dizziness and her dizziness 1 month post-operatively was at her baseline, pre- and post-surgical symptoms are reported in Table 1. She did report continued symptoms of autophony, aural fullness, and occasional bilateral pulsatile tinnitus. She noticed an improvement in left-side hearing and denied subjective change in taste or facial weakness. Post-operative (left stapedotomy) audiogram is shown in Fig. 2b. The audiometric results post stapedotomy surgery revealed cVEMP testing after stapes surgery is placed in Fig. 3a, and results suggest an inner ear third window mechanism.More than one year after stapes surgery, the patient went to another facility for evaluation of SSCD symptoms and underwent middle cranial fossa approach for left SSCD repair. Operative findings included a 3 mm left SSCD at peak of arcuate eminence repaired with bone wax. She then underwent post-operative audiogram and VEMP shown in Figs. 3b and 2c, respectively. Left ear VEMP results suggested an inner ear third window mechanism both pre- and post-operatively. She had resolution of most of her SSCD symptoms except aural fullness and now experiences pulsatile tinnitus bilaterally and noticed no changes in hearing after SSCD repair.
|
PubMed
| 38,328,458
|
Our patient is a 58-year-old Hispanic male with a history of hypertension, pulmonary embolism, iron deficiency anemia, and a history of colon adenocarcinoma at age 40 at the hepatic and splenic flexures, status-post right hemicolectomy with primary anastomosis. He has no known family history of cancer on either side and did not undergo genetic testing at the time of his initial cancer management.\n\nHe initially presented to oculoplastics for a mass of the right lower eyelid that had been enlarging over 3 months (Fig. 1); biopsy showed sebaceous cell carcinoma with genetic testing showing loss of MLH1 and PMH2 expression (Fig. 2). These findings, in conjunction with his prior colorectal cancer, resulted in his diagnosis with MTS.\nA few months prior to his presentation, he had undergone routine radiographic surveillance with Positron Emission Tomography (PET)/CT and colonoscopy at an outside hospital, and was found to have both a left renal kidney mass and a 5 cm irregular, ulcerated, and friable mass near the site of his prior surgical anastomosis, which was obstructing the majority of the lumen. Biopsy of the colonic lesion was consistent with mucin-producing adenocarcinoma with signet ring features.\n\nThe patient was scheduled to undergo a complete colectomy with left nephrectomy but presented to the emergency department the night prior to his scheduled surgery for hematochezia. He was anemic with a Hb of 6.7 but otherwise hemodynamically stable. He was given one unit of packed red blood cells and taken to the operating room the following morning for exploration and resection of the tumors.\n\nHe was found to have a firm mass at the site of the ileocolic anastomosis with two adherent loops of small bowel. The mass was not tethered to any other structures. He underwent a total abdominal colectomy with primary anastomosis as well as resection of the involved loops of bowel with primary anastomosis. Urology performed a left radical nephrectomy which was complicated by significant bleeding from a renal vein injury which was ultimately controlled with the assistance of vascular surgery. Estimated blood loss was 2.5 L.\n\nFollowing completion of the case the patient was transferred to the Intensive Care Unit on mechanical ventilation. He was extubated on postoperative Day 1 without issue. The remainder of his hospital stay was unremarkable, and he was discharged home on postoperative Day 4. Histologic studies of the colon cancer specimen revealed a heterozygous mutation in the MLH1 gene, consistent with MTS. Pathologic analysis of the renal mass was consistent with T2aNx clear cell carcinoma with negative resection margins.
|
PubMed
| 38,274,353
|
A 35-year-old right-handed man with a history of left frontocentral isocitrate dehydrogenase 1 (IDH1) mutant WHO grade 3 glioma, status-post gross total resection, and adjuvant chemoradiation therapy was referred to our center for the evaluation of glioma-related drug-resistant epilepsy. He had been diagnosed 7 years prior with glioma-related epilepsy and treated with levetiracetam (Figures 1A,B). He had also undergone a gross total resection with awake craniotomy with DES at another facility. Details of intraoperative electrocorticography (iECoG) and DES were unavailable, but a brain MRI on postoperative day 0 showed gross total resection (Figures 2A,B). The postoperative course was complicated by pSE, which led to a prolonged intensive care unit (ICU) course. Post-discharge, he became seizure-free on levetiracetam monotherapy until 3 years later when focal seizures recurred. Brain MRI was repeated at an undisclosed regular interval during this period, which showed no evidence of tumor progression despite recurrent seizures, prompting referral to our center.\n\nFigure 1\nwww.frontiersin.org\nFigure 1. Panels of serial preoperative axial postcontrast T1 and FLAIR images in a 35-year-old patient with recurrent left hemispheric glioma. Axial postcontrast (A) and FLAIR (B) images showing a non-enhancing large left frontal tumor prior to first resection in 2012. Nine years later, he presented with expansile T2 hyperintense (C) tissue with minimal punctate enhancement (D) along the superior margin of the resection cavity within the left middle frontal gyrus. Interval tumor progression 2 years later, with progressive confluent nodular heterogeneous, solid mass-like enhancement (E) with surrounding unenchanting T2 hyperintensity (F) in the left frontal lobe at the anterior and superior margins of the previous left frontal opercular region resection cavity. FLAIR, fluid-attenuated inversion recovery.\n\nFigure 2\nwww.frontiersin.org\nFigure 2. Panels of serial postoperative axial postcontrast T1 and FLAIR images in a 35-year-old patient who underwent repeated glioma resections for recurrent left hemispheric glioma. Axial postcontrast (A) and FLAIR (B) images showing fluid collection in the left frontal lobe surgical cavity on postoperative day 0 following the first glioma resection in 2012. Following the second surgery, early postoperative axial images taken on postoperative day 0 showed vascular and gyral enhancement (C) and decreased and increased FLAIR signal intensity (D) in the surgical cavity. Following the third surgery 2 years later, on postoperative day 0, axial images showed a region of unresectable enhancement in the left periventricular white matter and corpus callosum (E) and a hyperintense T2 FLAIR signal surrounding the resection cavity extending across the corpus callosum into the right frontal lobe (F). FLAIR, fluid-attenuated inversion recovery.\n\nA repeat brain MRI at our center showed subtle tumor progression, and our tumor board was convened, recommending a second brain tumor surgery. Prior to surgery, brain MRI was repeated (Figures 1C,D). He underwent awake craniotomy with DES. During surgery, neuro anesthesia was utilized based on our institution's standard protocol during awake craniotomy (14, 15). Briefly, this entailed premedication with 2\u2005mg midazolam and 50\u2005\u03bcg of fentanyl. Bilateral scalp blocks were given administering injections of 0.5% ropivacaine in the supraorbital, auriculotemporal, and occipital nerves bilaterally. Brain mapping was performed using an Ojemann cortical stimulator (Integra LifeSciences, Princeton, NJ, USA), with stimulation applied for 1\u20133\u2005s at a pulse duration of 0.5\u2005ms and a biphasic wave pulse rate of 50\u2005Hz up to a maximum of 6\u2005mA intensity or until eloquent functions were identified, and sometimes until afterdischarges were elicited. During his second surgery, iECoG demonstrated no epileptiform activity, and electrical stimulation was not performed. On postoperative day 0, another brain MRI was performed, which demonstrated gross total resection (Figures 2C,D). On postoperative day 1, the patient started having repetitive focal aware motor seizures that progressed to pSE despite intravenous lorazepam, levetiracetam, lacosamide, and valproic acid. He was then transferred to the ICU, intubated, and sedated using ketamine infusion under continuous electroencephalogram (EEG) monitoring. His pSE resolved, and he was transitioned to clonazepam and oral ketamine. Subsequently, he was extubated and maintained on oral ketamine, clonazepam, levetiracetam, and lacosamide. He was discharged on postoperative day 23 to an inpatient rehabilitation facility. Following discharge, ketamine and clonazepam were slowly weaned. He also received an adjuvant course of chemotherapy.\n\nBreakthrough seizures occurred 14 months later. A repeat brain MRI showed tumor progression, and chemotherapy was restarted. Seven months later, another brain MRI revealed further tumor progression. Following his tumor board re-presentation, a recommendation was made for a third brain tumor surgery with awake craniotomy with DES, with another brain MRI performed shortly before surgery (Figures 1E,F). Given his history of pSE during prior surgeries, the patient received aggressive preoperative \u201cprophylactic\u201d ASM. His oral lacosamide and levetiracetam maintenance doses were increased by 25% 48\u2005h before surgery. Moreover, an intravenous load of fosphenytoin (20\u2005mg/kg) was administered in the operating room prior to DES, followed by a maintenance dose of oral phenytoin 300\u2005mg/day for 14 days. During his third surgery, iECoG demonstrated no epileptiform activity, and electrical stimulation was not performed. A brain MRI on postoperative day 0 demonstrated a region of enhance5ment in the left periventricular white matter and corpus callosum, with a T2 hyperintense signal around the resection cavity that extended to the right frontal lobe through the corpus callosum (Figures 2E,F). His early postoperative course was uneventful without EPS. He was discharged home on postoperative day 4 with plans to wean phenytoin over the following 2 weeks. At the 1-month follow-up, seizures did not recur, and he remained on a maintenance ASM regimen of levetiracetam and lacosamide. A brain MRI with perfusion was performed, which showed persistent tumor progression. Table 1 summarizes both the preoperative and postoperative course of our patient following his repeated brain tumor surgeries. Moreover, Figures 1 and 2 provide serial pre- and postoperative brain MRIs that were obtained prior to and following the three surgeries for recurrent left hemispheric glioma in our patient.
|
PubMed
| 38,343,886
|
A 51-year-old male with a history of Cacchi-Ricci disease and long-standing B. Burgdorferi Osp A (Outer Surface Lipoprotein A), B Burgdorferi Osp B-NPS (Outer Surface Lipoprotein B), Babesia microti, Babesia Duncani, Bartonella henselae-NPS, Bartonella quintana-NPS, Borrelia miyamotoi-NPS, Borrelia recurrentis sought medical care for recurrent symptoms of right-sided flank pain. Past medical history includes a tick bite at 8 years old while camping in Bear Lake, Utah. He was prescribed Tetracyclines for four years to treat acne while in high school.\n\nOn presentation, he brought with him a renal calculi that he reportedly passed earlier in the year, ultimately hoping to understand the underlying etiology of the symptoms and history of nephrolithiasis. His history of renal lithiasis dates back to November 2002; the patient was 30-years-old at that time. Analysis of his recurrent stones in 2003 revealed uric acid stones; laboratory evaluation revealed an elevated serum uric acid level, 874 mg/dL. Allopurinol was prescribed with uric acid levels decreasing dramatically with an associated decrease in renal stone passage. Due to recurrent flank pain, radiological imaging was performed, which revealed generalized enlargement of the right kidney, blunted calyces and splenomegaly. A presumptive diagnosis was made of a possible variation of medullary sponge kidney. Symptoms persisted and increased in severity beginning again in 2017, despite medication use and dietary changes. The patient passed 57 stones in 2021 and 49 stones in 2022, as shown in Figure 1. On presentation to our urgent care, analysis of the stone he presented consisted of a Calcium Oxalate brown and tan stone that weighed 19 mg. Laboratory evaluation revealed deficient Vitamin D level of 20 ng/mL (nl range 30-100 ng/mL), and an elevated parathyroid hormone level of 92.3 pg/mL (nl range 10.8-79.4 pg/mL), Figures 2, 3. These levels are ultimately consistent with the etiology of calcium oxalate crystal formation. Meanwhile, previous studies have revealed that Lyme disease is correlated with a Vitamin D deficiency (Donta, 2012). This may explain the reasoning behind his lab values, but further workup is required to make this conclusion. CT of the abdomen and pelvis revealed extensive nephrolithiasis in the right kidney, with sparse calculi in the left kidney, as seen in Figure 4.\nOn presentation, the patient reported being compliant with naturopathic medical management of his Vitamin D levels that consisted of Vitamin D supplements, mimosa pudica, and chanca Piedra. Despite changes in lifestyle, medication management, and herbal supplements, he passed two stones during the first 6 weeks of 2023. Herbal supplements included Mimosa Pudica, and Chanca Piedra, which were prescribed by a naturopath the patient has been seeing. At this point in time, the patient\u2019s microbial conditions are being medically managed by an external primary care provider upon major dermatological flare-ups which include intermittent short-lasting pruritic rashes on his cubital fossa, forearm, and wrist.
|
PubMed
| 38,827,536
|
A 44-year-old male presented to the emergency department (ED) with a one-week history of dysuria, suprapubic pain, and gross hematuria. He is a veteran with a past medical history of kidney stones, post-traumatic stress disorder (PTSD), traumatic brain injury, and several episodes of Tuberculosis contracted during his military service that have been treated. He denied any smoking history or exposure to industrial chemicals. At the time of presentation, he was taking Acetaminophen, Buspirone, Celecoxib, Cyclobenzaprine, Famotidine, Pantoprazole, Prazosin HCl, Quetiapine, Sertraline, Sumatriptan and Topiramate.\n\nClinical examination in the ED was unremarkable except for the symptoms mentioned. He denied fever, chills, or weight loss. A bladder ultrasound reported diffuse abnormal thickening of the bladder's right lateral wall, with no signs of hydronephrosis or hydroureter. An abdomen and pelvis CT scan identified a thickened bladder mass concerning malignancy Fig. 1. A) Pelvic axial CT scan showing diffuse abnormal thickening of the bladder's right lateral wall (arrow). B) Abdominal and pelvic coronal CT scan showing diffuse abnormal thickening of the bladder's right lateral wall (arrow)\n\nCT: computed tomography; R: right.\n\nUrinalysis reported leukocytosis and red blood cells with negative nitrites. A complete blood count (CBC) showed eosinophilia at 7.7% and absolute eosinophil count elevated at 0.6 x109/L (Table 1). The patient was initiated on intravenous fluids, Ceftriaxone, and Azo Urinary Pain Relief, which contains 97.5 mg of Phenazopyridine Hydrochloride per tablet for symptomatic management. The following week, a cystoscopy showed a sessile-appearing mass, with bullous changes and hypervascularity extending from the right trigone to the right posterior wall and involving the entire right lateral wall. The lesion appeared to involve the area around the right ureteral orifice (UO), which was not visualizable. Meanwhile, the left UO was found in its orthotopic position without abnormalities. The patient subsequently underwent transurethral resection of the bladder tumor (TURBT) with right ureteral stent placement; recovery after surgery was uneventful.\n\nDespite the tumor-like appearance, histopathological findings confirmed the presence of benign urothelium and submucosa with overlapping features of polypoid and eosinophilic cystitis (Fig. 2). Following the diagnosis, the patient was referred to rheumatology and allergy medicine to explore potential underlying systemic conditions contributing to the observed bladder pathology. However, all tests for rheumatoid disease returned negative, and the allergy consultation concluded that the patient's eosinophil levels were not elevated enough to indicate a myeloproliferative disorder or systemic eosinophilic disorder, thus ruling out a systemic reaction. Additionally, the patient has no family history of such conditions. A follow-up CBC performed five months after tumor resection revealed a normalized eosinophil level of 3.8% and a normalized absolute eosinophil count of 0.2 x109/L. Parasite testing returned negative.\n\nFollow-up cystoscopy demonstrated no evidence of tumor recurrence, with the bladder displaying normal texture within the trigone region. However, a small mound or nodule was noted at the right UO. Ureteral orifices were identified bilaterally without obstruction.\n\nThe patient's symptoms have improved; he denies pain, dysuria, or gross hematuria since the initial presentation. Nonetheless, mild symptoms of cystitis with urgency were reported during the follow-up assessment. Antihistamine therapy was initiated, and the patient is scheduled for CBC monitoring every six months.\n\nThe rheumatology, allergy, and urology services did not recommend steroid therapy in consideration of the patient's clinical course. This decision was based on his improvement in CBC parameters post-tumor resection and the absence of systemic symptoms.\n
|
PubMed
| 38,742,015
|
A 57-year-old female with a history of a 4th ventricular CPP presented with increased thirst and urination. She initially underwent suboccipital craniotomy for tumor resection in 2004 and again in 2018 for tumor recurrence. She received subsequent Gamma Knife radiotherapy in 2019. Pathology from both resections revealed atypical CPP, WHO grade II. Since her initial surgery, she has experienced significant gait imbalance, diplopia, dysphagia, and right-sided hemiparesis and hemisensory loss. Surveillance magnetic resonance imaging (MRI) was done, showing an enhancing 1.5 \u00d7 1.8 cm suprasellar lesion, as well as a stable residual 5 \u00d7 5 mm lesion in the left posterolateral margin of the 4th ventricle [ Figure 1 ]. Preoperative visual field testing showed decreased left eye visual acuity without field cuts. She has patched the left eye since her initial surgery to improve diplopia. The endocrine evaluation revealed a prolactin level of 82.2 ng/mL attributed to the stalk effect without additional overt hormonal deficiency. Given the growth of the suprasellar lesion and the need for tissue diagnosis, she presented in April 2023 for left-sided craniotomy for tumor resection. The patient was treated with a left supraorbital craniotomy for tumor resection. Given her baseline functional status, we felt that an eyebrow incision provided the least invasive approach to access the tumor. A craniotomy was performed on the left side due to her existing right-sided deficits. We decided against an endoscopic transnasal transsphenoidal approach, given the patient\u2019s obesity and associated increased risk for CSF leak. We additionally felt an endonasal approach and potential complications may exacerbate the patient\u2019s baseline dysphagia. During resection, the firm lesion was densely adherent to the hypothalamic surface. Meticulous dissection with microinstruments allowed a tissue plane to be developed, and tumor resection continued toward the sellar floor. Preservation of functioning pituitary tissue was attempted; however, the normal-appearing pituitary gland was not visualized throughout tumor dissection and debulking. A small tumor was residual and densely adherent to the optic apparatus and was left behind to allow vision preservation. Closure was completed in standard fashion using a pericranial graft for watertight dural repair. Similarly to her prior surgeries, pathology revealed WHO II atypical CPP, suggesting metastasis. She developed panhypopituitarism treated with a regimen of desmopressin, levothyroxine, and hydrocortisone. She had a prolonged hospital course complicated by worsened dysphagia and altered mental status attributed to hypoxia secondary to atelectasis. Her respiratory status gradually improved with positive pressure ventilation through BiPAP, and her mental status returned to her preoperative baseline. Her worsened that dysphagia, however, did persist and ultimately required gastrostomy tube placement. Postoperative imaging demonstrated a small residual lesion within the sella [ Figure 2 ] without evidence of surrounding
|
PubMed
| 38,628,360
|
A male infant was born via cesarean-section at 39 weeks gestation and had a birth weight of 2.94\u2005kg. Apgar scores were 8 and 9 at 1 and 5\u2005min, respectively. He was admitted to the neonatal intensive care unit (NICU) on continuous positive airway pressure (CPAP) for antenatal diagnosis of skeletal dysplasia and respiratory distress. Immediately after NICU admission, the patient had worsening respiratory distress and hypoxia, requiring intubation and needle aspiration of a left pneumothorax. He required administration of surfactant while on 100% FiO2 and was eventually diagnosed with Persistent Pulmonary Hypertension (PPHN) for which he needed ventilation support by High Frequency Oscillation (HFOV), vasopressors (Epinephrine) and stress dose corticosteroids. Given his skeletal dysplasia and PPHN at birth, genetics team was consulted. Exome sequencing identified homozygous deletion variant c.1646delG in leukemia inhibitory factor receptor (LIFR) transcript NM_002310 9 (chr5:g.38499640delC). This variant is a frameshift, resulting in a novel termination site 4 amino acids downstream (p.G549Efs*4) which is associated with loss of function of the LIFR transcript and confirming a diagnosis of St\u00fcve\u2013Wiedemann syndrome (SWS). Once SWS was confirmed, neurology was consulted due to the high risk of dysautonomia, hyperthermia, and neuropathy associated with this condition. Gabapentin was started in the 3rd week of life to regulate autonomic system and presumed neuropathic pain, with good clinical response. Our patient had one episode of possible dysautonomia at 2 months of age with a high temperature of 40\u00b0C and no signs of infections. As per neurology recommendations, bromocriptine, a dopamine receptor agonist, was trialed with some response. There were no further episodes of dysautonomia needing bromocriptine during the NICU stay. He was started on enteral feeds (all via nasogastric tube) on day of life (DOL) 6 and a Gastrostomy tube was placed at 3 months of age for poor progression of oral skills. Due to the ophthalmic abnormalities, such as poor blink reflex and decreased corneal sensation associated with SWS, ophthalmology was consulted and recommended corneal lubrication. He had a prolonged course in the NICU with non-invasive ventilation [CPAP, Neurally Adjusted Ventilatory Assist (NAVA), and HFNC] before he was weaned off to room air and went home at 10 weeks of age. The patient was re-admitted to the hospital 2 weeks after discharge with a possible aspiration event. He needed HFNC for a couple of days, along with steroids, aggressive pulmonary toilet, and diuretics.\n\nA skeletal survey performed at 5 weeks of age showed diffuse hypomineralization of bones, indicating osteopenia, and apparent overriding of the lambdoid suture of the skull posteriorly (Figure 1). Faint sclerotic metaphyseal bands within the metadiaphyses and metaphyses of the long bones of upper and lower extremities were present, and metaphyses of the long bones of the upper and lower extremities were noted to be broadened and irregular (Figure 2). Bowing of the bilateral femoral, tibial, and fibular diaphyses with smooth periosteal reaction and cortical thickening along the bilateral tibial diaphyses was also seen (Figure 3). A hip ultrasound was performed and was found to be normal. As of writing this report, our patient is five years of age and retains the ability to ambulate independently despite having severe bilateral bowing of his lower legs. He attends physical therapy and is closely followed by the Orthopedic team for evaluation of his scoliosis, bilateral tibial bowing, coxa vara, and leg length discrepancy after bilateral femoral valgus osteotomy, which was performed at three years of age. He wears a Boston Thoracolumbrosacral Orthosis (TLSO) Brace to slow down spine curvature and delay spinal surgery. Plans for future corrective surgeries on his tibial bones are currently in discussion. He notably also developed bilateral club feet, camptodactyly, and enlargement of bilateral wrists. He is observed to have a prominent forehead, midface hypoplasia, dolichocephaly, low-set ears, absent Cupid's bow and U-shaped upper vermilion, and micrognathia. Due to his continued biting of the tongue during bruxism, our patient developed a traumatic fibroma on the lateral border of the tongue. With negative infection workup and confirmed SWS, the intermittent fevers in the first few weeks of life were thought to be secondary to dysautonomia and temperature dysregulation. Although he continues to have some temperature dysregulation, he has never experienced episodes of malignant hyperthermia in procedures that required administration of general anesthesia. He continues to take gabapentin for his neuropathic pain. He remains at a high risk for developing corneal abrasions and has developed exposure keratitis and corneal scaring due to his poor blink reflex; as well as punctate epithelial keratopathy, anisocoria, and decreased vision in both eyes. He continues to attend school and has preserved cognitive abilities.
|
PubMed
| 38,496,000
|
The patient is a 21-year-old male who presented as a category 1 trauma after suffering a single gunshot wound to the chest. The primary and secondary surveys in the trauma bay revealed a hemodynamically stable patient on minimal oxygen support with an entry wound in the right shoulder without an exit wound. Trauma bay chest X-ray revealed a 9 mm metallic bullet at the level of T9-T10 overlying the right aspect of the heart and associated comminuted fractures of the right 4-7th ribs, which was later confirmed on CT imaging (Fig. 1). The patient had significant pain despite a multimodal pain regimen and given the marked destructive gap between rib segments, the patient was taken to the operating room for surgical stabilization of his rib fractures. The patient was placed under general anesthesia and a curvilinear incision over his rib fractures was made. Subsequent dissection of subcutaneous fat, muscle, and fascia was performed to expose the rib fractures. During dissection, multiple bony fragments were harvested from the extrapleural space and thoracic cavity then preserved in saline. A 50 mm plate (RibLoc U Plus, Acumed, Hillsboro, Oregon, USA) was applied to the 4th rib fracture. Further evaluation of ribs 5\u20137 demonstrated significant bony loss (25 mm in rib 5, 25 mm in rib 6, and 15 mm in rib 7). In ribs 6 and 7, the previously removed bone fragments were placed within the fracture gap and secured into the plate with screws. The defect in ribs 5 and 6 were especially large and as seen in Fig. 2. For rib 5, multiple bony fragments were wrapped in a proglatin 910 mesh (Vicryl Mesh, Ethicon Inc., Cincinnati, Ohio, USA) and secured in place with silk suture (Fig. 3). The intention was to buttress this posteriorly with a bioabsorbable plate (BioBridge, Acumed, Hillsboro, Oregon, USA) however this was unavailable at the time of surgery. All three of these rib fractures were then stabilized with 75 mm plates. The thoracic cavity was then irrigated, a chest tube was placed, intercostal nerve bundles of 3\u20137 were cryoablated, and the wound was re-approximated. Post-operative chest X-ray demonstrated good rib fracture alignment (Fig. 4). The patient's post-operative course was uncomplicated with the eventual removal of his chest tube and he was discharged on post-operative day 4. Cross-sectional (CT) imaging obtained 3 months post-operatively demonstrates appropriate healing with proper rib cage stabilization but failure of the bone graft to integrate into the surrounding tissues (Fig. 5).
|
PubMed
| 38,601,768
|
A 48-year-old G4P4 Caucasian lady with a history of papillary thyroid carcinoma presented for a routine umbilical hernia repair in 2016. She had positive family history for breast and prostate cancer on the paternal side, was never a smoker and underwent genetic testing for hereditary cancer syndromes which was negative. Intraoperatively, she was found to have a left hydrosalpinx and ovarian mass. A subsequent transvaginal ultrasound revealed a 10.9 cm solid-cystic left adnexal mass, and a CT abdomen/pelvis identified a liver lesion concerning for metastasis. A preoperative CA125 was 386 units/mL.\n\nThe patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, and tumor debulking. Pathologic examination showed HGSC involving the bilateral ovaries, left paratubal soft tissue, uterine serosa, pelvic peritoneum, left ureter, rectosigmoid colon, and diaphragm. The omentum was negative for tumor. Her stage was pT3b pNx pMx (FIGO IIIB).\n\nMicroscopic examination revealed a carcinoma which predominantly formed glands and slit-like spaces (Figure 1). The cells showed moderate atypia and eosinophilic cytoplasm. Immunohistochemical studies demonstrated the tumor cells were positive for PAX8, WT-1, and folate receptor alpha (75%), and negative for HER2 (0). Molecular profiling of the tumor was completed using the Oncopanel assay, a targeted next generation sequencing panel of 447 oncogenes and tumor suppressors, as previously described (12). The tumor harbored single nucleotide variants in TSC2 c.1832G>A (p.R611Q), TP53 c.587G>C (p.R196P), BCL11B c.2224G>C (p.E742Q), BUB1B c.1478C>T (p.T493I), CBFA2T3 c.770C>T (p.T257M), NSD1 c.708G>C (p.Q236H), SETBP1 c.3712G>A (p.D1238N), STK11 c.1263C>T (p.S421S), and ZNRF3 c.334C>A (p.Q112K). Numerous copy number changes were identified, including single copy deletions involving TP53 and TSC2. A UBE4B::KIF1B fusion, of uncertain biological significance, was also detected. A germline testing panel, which included BRCA1, BRCA2, TSC1, TSC2, and STK11, revealed no mutations.\n\nPost-operatively, she underwent six cycles of intravenous and intraperitoneal paclitaxel and cisplatin to which she had a complete clinical response. Two and a half years after her initial surgery, a rising CA125 prompted imaging which revealed peritoneal and abdominal wall nodules. A biopsy confirmed recurrent HGSC. She was then enrolled in a clinical trial of PARP inhibitor talazoparib and anti-PD-L1 antibody avelumab. The patient was initially stable on this treatment, but after approximately one year, demonstrated radiographic and biochemical increases in disease burden. At that time, she transitioned to carboplatin and liposomal doxorubicin with good response, but she recurred again and was treated with bevacizumab and liposomal doxorubicin for her then platinum resistant disease. Her course was complicated by bevacizumab-induced hypertension, recurrent mucositis, and eventually renal toxicity, which prompted suspension of this regimen, during which her CA125 rose and she experienced recurrence of her peritoneal nodule which caused malignant hydronephrosis. She was subsequently started on everolimus 10mg po daily and letrozole 2.5mg po daily, due to the presence of the TSC2 mutation with concomitant TSC2 single copy loss. The everolimus dosing frequency was reduced to 5 days on/2 days off secondary to thrombocytopenia. CT scans 12 and 16 months after starting everolimus revealed a decreased tumor burden and a normal CA125 (16 and 23 units/mL respectively). Overall, she tolerated letrozole/everolimus well with preservation of her quality of life, i.e., she continued working and maintained all her previous activities. However, 19 months after initiation of everolimus, her CA125 increased to 74 units/mL and a CT scan showed worsening peritoneal carcinomatosis prompting discontinuation of everolimus (Figure 2).
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PubMed
| 38,463,894
|
We describe the case of a 44-year-old female with CF due to the mutations W1282X and N1303K, and ACFLD with a baseline lung function of ppFEV1 27%. She had pancreatic insufficiency, CF-related diabetes, and a low BMI (BMI 18). Due to her declining lung function over the prior year after a severe exacerbation, theratyping of the patient's nasal cells (human nasal epithelial cells, HNE cells) was done. Theratyping is a method of testing modulators on laboratory or patient-derived cells. It has the potential to characterize complex CFTR variants, assess modulator responsiveness of rare/unique CFTR mutations, and even provide optimization in the modulator regimen by comparing modulator responses [8]. Nasal cells were obtained by nasal brushings and sent to the lab. Upon arrival at the lab, the brushes were rotated a few times into the media before being discarded. The tube was spun for 5 minutes at 400×g at 4 °C. The supernatant was removed, and the cell pellet was resuspended in 2 mL PneumaCult™-Ex Plus media and seeded as passage 0 (P0) into one well of a 6-well plate coated with collagen I. Additional antibiotics were added. The media was changed the next day and subsequently, every other day until the cells were confluent. A second expansion as P1 followed into a 10 cm dish coated with collagen I, in PneumaCult™-Ex Plus media. Upon confluency, the cells were transferred to Transwell inserts coated with collagen IV, as P2 and cultured submerged for 5 days. Air-liquid interface was created at that time and the media was switched to PneumaCult™-ALI media. The cells were apical washed using DPBS and the media changed in the basolateral compartment every other day for 2–3 weeks until ciliary beating and mucus transport could be observed in the microscope. The day before CFTR current measurements, cells were washed and media replaced with the following treatments: one control with DMSO (0.1%); one with 1 μM ivacaftor; one with 1 μM ivacaftor plus 5 μM tezacaftor; and one with 1 μM ivacaftor, 5 μM tezacaftor, and 1 μM elexacaftor. CFTR current measurements were done in Ussing chambers and CFTR currents were recorded in the presence of acute DMSO (0.1%) or ivacaftor (5 μM). The experiments were carried out in triplicates. In this case, theratyping of the nasal cells showed that current was enhanced to over 10% of WT CFTR (Fig. 1) which represents the ≥10% CFTR recovery that has been considered reliable to lead to milder clinical manifestations [9]. In 2022, due to the patient's clinical deterioration, our team decided to pursue off-label use of ETI. The patient began treatment with ETI (Elexacaftor 200mg -Tezacaftor 100mg-Ivacaftor 150mg in the morning and Ivacaftor 150mg orally at nighttime) in April 2022. Three months after the patient came back to the clinic and reported significant improvement in respiratory symptoms, with decreased cough overall, especially at night. She was now able to sleep better at night, wake up rested, and had more energy during the day. She had less chest tightness and less sputum, was less short of breath, and able to exercise more. Her lung function increased by 5% of ppFEV1 (27%–32%; Table 1). She had more appetite, gained weight 3.6kg (from 44.5kg to 48.1kg) and her BMI increased from 18.8 to 20.1. After ten months, the clinical improvement was maintained: her lung function was 33% ppFEV1, her weight was 48.0kg, her BMI remained at 20.0, and required less insulin to control her CF-related diabetes. She did not grow methicillin-resistant staphylococcus aureus (MRSA) in the sputum for 10 months but continued to grow methicillin-susceptible staphylococcus aureus and Pseudomonas. She had only one exacerbation after which she recovered faster than usual. For safety monitoring, the patient continued with her quarterly CF clinic visits, and liver function tests were checked every three months. The transaminases did not significantly change, the alkaline phosphatase decreased, and the total bilirubin increased to 1.7mg/dl but after ten months decreased to 0.9mg/dl. She did report some memory problems, but it was unclear if it was related to ETI or to a recent COVID infection. There were no other adverse effects.
Despite this benefit in her symptoms, lung function, and quality of life, her sweat chloride concentration two months after ETI initiation showed no significant reduction (108–99mmol/L, and 102 to 101mmol/L).
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PubMed
| 38,544,840
|
A 69 year old male patient with a past medical history of hypertension, and right eye blindness for 11-12 years due to retinal vein thrombosis was referred to us for subdural hemorrhage. The patient had been taken to an outside hospital and had a CT taken showing a left temporal subdural hemorrhage (5mm x 7cm x 4 cm) and a lumbar puncture. The patient was then transferred to our ED and an additional CT was taken confirming the subdural hemorrhage, which was felt to be stable. The patient reported he had fallen and hit his head. The patient denied dizziness, chest palpitations, seizures or unilateral weakness and stated that he did not lose consciousness during the incident. Furthermore, the patient had similar events several times over the past 7 to 8 months along with symptoms of progressive worsening gait and headaches which he had been seen by outside institutions. Upon questioning the patient revealed a history of symptoms including difficulty ambulating, bilateral tongue and facial numbness and dysarthria. Subsequently, further imaging was completed and MRI revealed a diffuse hypodensity of the pons and cerebellum which had extension into the left internal capsule and left corona radiata. (Figures 1, 2). As no biopsy had been previously conducted, we felt that it was necessary to perform a biopsy for tissue diagnosis. A right sided retrosigmoid skull-base craniectomy approach for microsurgical right sided cerebellopontine angle approach was planned with the intention of conducting cerebellar and lateral pons biopsies. These biopsies were to be at the inferolateral aspect of the trigeminal nerve root entry zone.\n\nThe patient was brought into the operating room (OR) and was adequately prepped and positioned to exposed the right retrosigmoid area. The incision was planned with reference to the transverse sinus. The incision was made in a \u201cC\u201d fashion and then dissection revealed the suboccipital bone and mastoid. A single bur hole was placed and then enlarged to expose the inferior aspect of the transverse sinus and posterior portion of the sigmoid sinus. After this, we reached the signmoid transverse junction and via microscopy dissected the dura in a T-fashion. After encountering the cerebellum, the biopsy was planned with the Stealth navigation equipment after which we continued further to the pons and took an additional biopsy using the same technique. These were sent to pathology who reported that the cerebellum was in fact normal tissue; while the pons was nondiagnostic. Consequentially, additional permanent samples of the pons were taken at the inferolateral area of the trigeminal nerve root entry one. The patient was then closed appropriately and extubated without additional complications.\n\nUpon reviewing the second set of permanent tissue samples, pathology identified a somewhat atypical glial infiltrate (Figure 3) with the majority of the astroglia nuclei labeling Ki-67 (Figure 4). Coupled with the radiology data (Figures 1, 2), these results were only somewhat suggestive of an infiltrating astroglia neoplasm. To obtain enhanced characterization of the lesion, IDH1/R132H, ATRX, H3K27me3, and p53 immunohistochemical studies were conducted. However, these studies revealed no molecular signatures typical of astroglia neoplasia. Subsequentially, additional genetic studies were performed at Mayo Clinic Laboratory. These results indicated a mutant TERT gene promoter and PIK3R1 mutant as well as wild type for IDH1/2, ATRX, and TP53. These genetic results were suggestive as a glioblastoma WHO grade 4 tumor. Furthermore, the negative result for H3K27 was used to rule out the possibility of a diffuse midline glioma.The final diagnosis of the patient according to molecular subtyping was a TERT promoter mutation which supported an integrated diagnosis of glioblastoma. Furthermore, the lack of IDH, ATRX, or TP53 mutations was suggestive of an aggressive glial neoplasm. The whole point of this challenging pathologic diagnosis is that it is primarily based on the molecular findings identified on NGS testing of the very limited biopsy sampling. This diagnosis thus falls under the category of \u201cmolecular glioblastoma\u201d, and that it is not possible to establish a morphologic diagnosis of glioblastoma given the pontine location, as a biopsy sufficient to establish such a diagnosis would likely kill the patient. As such, figures providing histologic proof of glioblastoma identity do not exist.\n\nIn accordance with the molecular subtype of our patients GBM, we treated the patient with the traditional STUPP regimen (radiotherapy (4848.0 Gy administered in 21 fractions) plus concomitant temozolomide). After completion of this initial therapy, MRI revealed no new tumor progression. The patient was then maintained via STUPP protocol which was scheduled for twelve cycles of temozolomide (dosing 150 mg/m2) on a 28-day cycle. Due to side effects related to the chemotherapy treatment the patient requested a break from treatment at the sixth iteration. Thus, upon completing the fifth iteration, maintenance treatment was temporarily discontinued. However, upon follow-up MRI the patient demonstrated showed two areas of focal enhancement, one at the right middle cerebellar peduncle and the second at the left parietal subependymal region along the posterior aspect of the body of the left lateral ventricle. Maintenance therapy was reinitiated at this point and focal radiation was considered.\n\nOne month after re-initiation of treatment (13 months after initial start of chemotherapy), MRI demonstrated mild increase in size of the right cerebellar peduncle rim enhancing lesion (9mm x 6mm x 11mm as compared to 7mm x 5mm x 8mm). The lesion along the left parietal lobe subependymal region was stable at this point. At this point it was decided to administer focal proton therapy (30 Gy in 10 fractions) at the right cerebellar peduncle rim enhancing lesion along with continuation of maintenance temozolomide therapy.\n\nAt last follow-up the patient had demonstrated limited symptomatic improvement. Oral sensation has improved and the patient handling of oral secretions has improved. Although the patient still reports some numbness of the lower lip. Additionally, articulation of speech is much improved and coughing is reduced. Furthermore, the patient can maintain eye contact and demonstrates improved cognitive awareness.
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PubMed
| 38,628,516
|
A 47-year-old African American male with a past medical history of glucose-6-phosphate dehydrogenase deficiency presented with three months of worsening bilateral upper extremity radicular pain/numbness and tingling radiating to both shoulders. On examination, he had bilateral hyperreflexia, bilateral Hoffmann\u2019s and Babinski\u2019s signs, all reflecting the presence of significant cervical myelopathy. The cervical magnetic resonance imaging (MRI) demonstrated congenital spinal stenosis and a 2.5 cm intramedullary C4\u2013C6 spinal cord lesion that enhanced with contrast on the T2 image and was diffusely hyperintense on the T2-weighted studies [ Figures 1 - 4 ]. The abdominal-chest computed tomography and endobronchial ultrasound-guided fine-needle aspiration (i.e., of mediastinal hilar lymphadenopathy) revealed non-caseating granulomas consistent with sarcoidosis. The cardiac positron emission tomography scan also confirmed cardiac sarcoidosis characterized by a patchy abnormal increased signal u in the left ventricle. Further, the cerebrospinal fluid (CSF) protein level was high (>390). With the initial diagnosis of multisystemic sarcoidosis/probable neurosarcoidosis, the patient was started on daily IV methylprednisolone (dose of 1 g). After developing a left punctate pontine stroke (i.e., resulting in left internuclear ophthalmoplegia), vertical nystagmus, and mild left ptosis, he was started on clopidogrel and aspirin. However, as the subsequent contrast brain MRI revealed pachymeningitis, leptomeningitis, and a T2-hyperintense lesion in the pons, the patient was subsequently started on infliximab (5 mg/kg) and referred to neurosurgery with the diagnosis of severe cervical myelopathy secondary to a cervical C4\u2013C6 intramedullary neurosarcoid lesion. To decompress but not biopsy the C4\u2013C6 intramedullary mass, the patient underwent a C3\u2013C6 laminectomy and C3\u2013 C7 posterior spinal fusion. Although one day postoperatively, he developed a new right-sided motor hemiparesis that lasted for two weeks; the repeat MRI scan did not show any new cord lesions or increased intrinsic/extrinsic cord compression. Nine months later, the patient experienced four transient relapses of hemiparesis/quadriparesis (i.e., none of which warranted or were treated surgically due to no new MR findings) for which he received varying doses of rituximab, methotrexate, and corticosteroids.
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PubMed
| 38,533,443
|
A 4-year 2-month-old girl was referred to genetics clinic for evaluation of developmental delay and abnormal eye movement. She was accompanied by her parents.
The patient was born at 41 weeks' gestation to a 24-year-old gravida 1 para 0 mother and a 28-year-old father after an uncomplicated pregnancy and vaginal delivery. Family history of the patient was noncontributory. Consanguinity was denied.
Her birth weight was 3.3 kg (50th percentile), and her length was reportedly average. Information about Apgar scores was not available. Her immediate postnatal course was unremarkable.
At about the age of 3 months, frequent upward deviation of her eyes was noted. An electroencephalogram (EEG) was performed, which did not capture seizures. At the age of 5 months, the patient was hospitalized for seizure-like activity, and she was treated with anticonvulsants. Workup included an EEG which was reportedly normal, and a brain MRI at the age of 6 months which did not identify specific abnormalities. At 7.5 months, her parents took her home from the hospital and stopped all medication due to lack of improvement in symptoms.
Shortly after, another EEG was performed at a third hospital, which did not capture seizures. She was evaluated by an ophthalmologist who diagnosed her with vertical periodic nystagmus. She was also evaluated by a clinical geneticist who ordered biochemical testing. Urine organic acids and plasma amino acids were reportedly normal.
The patient had global developmental delays. She sat unassisted at 1.5 years of age, and she took independent steps at 4 years of age. At the time of genetic evaluation, her speech was limited to a few single syllables, and she was able to use made-up hand signs to communicate with her family. Her receptive language was better than expressive language. The family moved to the United States at 3 years 9 months to seek medical care. In the United States, she started to receive occupational therapy, physical therapy, and speech therapy, which helped her make developmental progress. Repeated brain MRI was also ordered in the United States, which was reportedly normal.
On physical examination, she held a chin-up position and her eyes rolled back intermittently. Head circumference was 48 cm (15th percentile), height was 100.9 cm (40th percentile), and weight was 15.5 kg (37th percentile). No significant dysmorphic features were noted. Her musculoskeletal exam revealed bilateral pes planus and joint laxity. Her neurologic exam showed brisk reflexes, generalized truncal hypotonia, and unsteady gait. Nystagmus was not noted.
Whole exome sequencing analysis revealed excessive homozygous rare variants on chromosome 2 ([Fig. 1]). A detailed evaluation of the variants on chromosome 2 confirmed complete isodisomy of chromosome 2 with detection of a homozygous frameshift likely pathogenic variant in SPR (p.Leu222CysfsTer4, chromosome 2p13.2; [Fig. 2A]) and a homozygous missense variant of uncertain significance (VUS) in ZNF142 (p.Arg823Gln, chromosome 2q35; [Fig. 2B]). Biallelic pathogenic variants in SPR cause SRD, a dopa-responsive dystonia. Biallelic pathogenic variants in ZNF142 cause NEDISHM. Analysis of parental DNA indicated that neither variant was paternally inherited. Instead both were maternally inherited, compatible with maternal UPD2 in the patient ([Figs. 2A, B]). Paternity was confirmed by genome-wide rare allele analysis. A peripheral blood karyotype was not obtained because the family did not have health insurance.
The diagnosis of SRD was made and the patient was treated with levodopa. Follow-up shortly after showed dramatic improvement in her motor skills, but her expressive speech remained delayed with only a few syllables. Her receptive language, however, continued to be more advanced and she was able to follow multistep instructions.
A year later, the patient had almost normal gross motor skills. She could run, jump, and had nearly normal playground activities. Her fine motor skills remained delayed, but she was able to draw and color, and could feed herself using utensils. She was toilet trained and could dress herself, although she could not fasten buttons. She used single-syllable words and technology-assisted methods to communicate. Her receptive language remained advanced and she was bilingual. She interacted well with other children in school.
The diagnosis of NEDISHM remains uncertain because she does not have the abnormal movements or seizures described in affected individuals.
|
PubMed
| 38,515,998
|
A 42-year-old woman, gravida 3 para 0201, present at 24 1/7 weeks of gestation with loss of consciousness and altered mental status. She had secondary biliary cirrhosis, heart failure with preserved ejection fraction, pulmonary hypertension, chronic thrombocytopenia, and preeclampsia without severe features.\n\nSecondary biliary cirrhosis was diagnosed at age 31 years after presenting with acute cholangitis. Exploratory laparotomy and choledochoduodenostomy revealed common bile duct stricture from an open cholecystectomy at age 20 years. Liver biopsy revealed grade 4 cirrhosis and bile duct proliferation. Evaluation for viral, metabolic, and autoimmune etiologies was nondiagnostic (Table 1). At age 32 years, she underwent endoscopic band ligation for grade 2 esophageal varices on routine esophagogastroduodenoscopy (EGD). Cirrhosis remained compensated during the index pregnancy, supported by absence of esophageal or gastric varices on EGD at 15 0/7 weeks and stable laboratory testing (Table 1). Preconception Model for End-Stage Liver Disease (MELD) score was not available; first-trimester MELD score was 10 (range 6 to 40). She was on ursodiol 500 mg twice daily and beta-blocker therapy during the index pregnancy. The patient had initially presented to care after experiencing a few weeks of volume overload, and was subsequently found to be pregnant, at 9 0/7 weeks of gestation. She did not have a preconception consult with maternal-fetal medicine. During this index pregnancy, due to acute exacerbation of congestive heart failure, she had a total of three hospitalizations, during which termination was offered. Echocardiogram and right heart catheterization at 14 5/7 weeks revealed impaired left ventricular relaxation, dilation of all chambers, and pulmonary artery pressure of 40 mmHg. Her third admission was notable for 18.5 kg removed from diuresis and development of preeclampsia without severe features at 23 3/7 weeks (by new mildly elevated blood pressure and proteinuria [197 mg/24 h at baseline to 420 mg/24 h]). She received a course of betamethasone at 23 weeks, per institutional policy of offering this in well-dated pregnancies as early as 23 weeks, regardless of estimated fetal weight (EFW). She was discharged at 24 0/7 weeks with close outpatient follow-up plans.\n\nOne day after discharge, at 24 1/7 weeks, she represented via emergency medical services for loss of consciousness. Her son noticed waxing-waning mental status before she was found unconscious at home with no witnessed tonic-clonic activity or loss of bowel or bladder function.\n\nOn admission, she presented with asterixis, disorientation to time, blood pressure of 150/74, temperature of 97.9 \u00b0F (36.6 \u00b0C), and physical examination negative for focal neurologic deficits, abdominal ascites, epigastric/right upper quadrant pain, nausea/vomiting, and signs of volume overload. The results of liver function tests (LFTs) were elevated from one day prior (AST 134 from 60 U/L, ALT 94 from 40 U/L), ammonia 111.0 umol/L, total bilirubin 3.8 (from 2.4 mg/dL), glucose 102 mg/dL, platelets 112,000 uL, and negative viral serologies, Maternal-fetal medicine coordinated care with cardiology, gastroenterology, neurology, neonatology, and anesthesiology. A head CT scan without contrast was negative for acute intracranial abnormalities. Abdominal ultrasound revealed stable cirrhotic hepatic morphology and portal systemic hepatofugal flow with normal main portal vein diameter. Chest x-ray revealed stable pulmonary edema and cardiomegaly. Criteria for PESF were met by acute elevation of LFTs. The leading diagnosis of altered mental status was hepatic encephalopathy precipitated by PESF, more likely than true decompensation of historically stable, compensated cirrhosis. Given worsening PESF, the multidisciplinary team and surrogate decision-maker opted for emergent Cesarean delivery at 24 2/7 weeks. Prior to delivery, she received lactulose 20 mg, a rescue dose of betamethasone, and magnesium sulfate (continued through delivery and 24-h postpartum).\n\nThe patient underwent a primary low-transverse Cesarean delivery under regional anesthesia after pulmonary artery catheter placement for close hemodynamic monitoring. Surgery was uncomplicated. She delivered a viable premature male infant weighing 560 g with Apgar scores of 3, 3, and 6 at 1, 5, and 10 min, transferred to the neonatal intensive care unit (NICU) on mechanical ventilation. Postpartum, mental status rapidly improved with return to baseline within 24 h. She was discharged on post-operative day four at her baseline mental status, with improved bilirubin, LFTs, and ammonia levels on lactulose 10 mg every 8 h (Table 2). She was discharged with lactulose 10 mg every 8 h, carvedilol 3.125 mg twice daily, and furosemide 40 mg daily, and multidisciplinary follow-up.\n\nAt 3 months postpartum, hepatocellular liver enzymes had improved and returned to baseline pre-pregnancy levels; however, cholestatic liver enzymes had increased from discharge (Table 2). The neonatal course was marked by prolonged NICU admission for management of extreme prematurity-related complications (bronchopulmonary dysplasia and nutrition), with multidisciplinary follow-up post-discharge.
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PubMed
| 38,370,592
|
A 38-year-old otherwise healthy male was diagnosed with T3N1 microsatellite-stable rectal cancer after experiencing rectal bleeding, weight loss, and constipation. He completed a two-month course of neoadjuvant chemoradiation, followed by low anterior rectal resection, and three cycles of adjuvant Capecitabine. He declined additional adjuvant chemotherapy due to side effects. Recurrence was found at the colorectal anastomosis 7 months after his initial resection. He underwent abdominoperineal rectal resection with permanent end colostomy. Pathology was moderately differentiated pT2N1M0 microsatellite stable rectal adenocarcinoma. He completed an additional 3-month course of adjuvant chemotherapy before being lost from follow up for almost 2.5 years. He returned to care due to difficulty with urination, numbness, and stabbing pain over the right buttock. Now 4 years out from his initial diagnosis, imaging and biopsy confirmed pelvic recurrence. Imaging showed a presacral soft tissue mass invading prostate and abutting bladder and sacrum, suggestive of perineural spread of the tumor along the right S3 and S4 nerve (Fig. 1A). He completed four cycles of neoadjuvant capecitabine plus oxaliplatin (XELOX)\u2009+\u2009Panitumumab, followed by neoadjuvant chemoradiation before planned two-stage surgical resection with intraoperative radiation (IORT).
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PubMed
| 38,799,225
|
A 59-year-old male presented as a referral for panuveitis after experiencing declining vision and floaters for a year. He endorsed an 85-pack year smoking history with current use of a half pack per day. His ocular history included bilateral open angle glaucoma for which he had undergone a glaucoma valve procedure in the right eye a year prior to presentation. He endorsed a strong family history of cancer; his brother was diagnosed with lung cancer and his twin sister was diagnosed with throat cancer. Of note, he was cachectic with temporal wasting on presentation, and his wife noted dramatic weight loss in the past year.\n\nHis visual acuity was significantly decreased to light perception in the right eye and 20/200 in the left eye, with intraocular pressures of 4 and 14 mmHg in the right and left eyes, respectively. Bilateral anterior chambers appeared normal with the Ahmed glaucoma valve still well positioned on the left side. The view to the posterior segment in the right eye was significantly hindered by dense vitreous haze. Although fundus photos showed some view into the posterior pole, primary vision loss is presumed to be due to optic nerve damage indicated by the optic nerve pallor. Relative afferent pupillary defect was not noted because the pupils were nonreactive secondary to iris atrophy and synechiae. The view in the left eye was clearer and multifocal yellow chorioretinal leszions were noted (Fig. 1A). On fluorescein angiography, vascular leakage including a small amount of angiographic cystoid macular edema (CME) was visible in the left eye. No obvious CME was noted on OCT. On indocyanine green angiography, hypocyanescent lesions were visualized in the left eye (Fig. 1B). Previously ordered laboratory studies from the referring physician were notably negative for syphilis (T. pallidum), tuberculosis (QuantiFERON gold), and birdshot chorioretinopathy (HLA-A29). His angiotensin converting enzyme was elevated to 75. Further testing was performed to rule out vitreoretinal lymphoma. MRI of the brain was negative. Uveal lymphoma was also on the differential, as was sarcoidosis, and CT chest/abdomen/pelvis was performed to evaluate further for these conditions. CT of the abdomen/pelvis returned negative. However, CT chest demonstrated a 1.5 cm right lower lung spiculated nodule in addition to partially calcified mediastinal and hilar lymphadenopathy.\n\nThe patient was referred to interventional pulmonology and received an endobronchial ultrasound-guided fine-needle aspiration biopsy of the right lower lobe nodule and sentinel lymph nodes (Fig. 2A and B). The nodule stained positive for TTF-1 and Napsin-A confirming the diagnosis of lung adenocarcinoma. Cytology of biopsied lymph nodes demonstrated non-caseating granulomas. PET-CT also demonstrated less uptake of the nodes relative to the lung mass, making them more likely secondary to granulomatous inflammation. The clinical manifestation of the patient's uveitis was most consistent with SLR uveitis given the presence of multifocal choroidal lesions, and this in concert with the patient's pulmonary granulomatous inflammation made secondary paraneoplastic sarcoidosis the most likely diagnosis. The recommendation was made for the patient to undergo systemic radiotherapy and surgical excision of the lung mass, with the use of local steroid therapy for treatment of uveitis in the meantime.
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PubMed
| 38,567,931
|
The subject is a four-year-old female at the time of reporting, born at term via an uncomplicated spontaneous vaginal delivery. Growth parameters at birth were appropriate for gestational age. Around 2\u2009months of age, the subject was noted to be hypotonic. Imaging of the head and spine were obtained, showing agenesis of the corpus callosum as well as thoracolumbar segmentation differences of the spinal column.\n\nAt 2\u2009years of age, the subject was referred to our clinic for further evaluation. She was globally developmentally delayed. She was also noted to be of shorter stature (at the 7th percentile for age) than would be expected for her predicted mid-parental height. The family history was negative for other individuals with developmental delays or short stature.\n\nChromosomal microarray was recommended and detected a 10.4\u2009Mb deletion on 3q12.33q22.1[arr[GRCh37]3q13.33q22.1(121647014_132086936)\u00d71] (Figure 1). The deleted region includes at least 94 genes, with several genes that have previously been associated with human disease inherited in an autosomal dominant pattern. These include GATA2, SEC61A1, MYLK, CASR, ZNF148, and RHO. Given the involvement of GATA2, the subject was referred to hematology/oncology and allergy/immunology for evaluation. A renal ultrasound, echocardiogram, serum calcium and parathyroid hormone level, and referral to pediatric ophthalmology were also recommended based on the other deleted genes. The subject's parents were offered genetic testing and declined, but due to the large size of the deletion, it is assumed to be de novo. At the subject's most recent follow-up in our clinic at 3.5\u2009years old, she was walking independently and able to feed herself with some utensil use. She still did not have consistent speech and she continued to receive physical, occupational, and speech therapies. Growth parameters were at the 6th percentile for height, 70th percentile for weight, and 5th percentile for head circumference. Physical exam at that time was notable for bitemporal narrowing, tall forehead, and flat midface. Her workup with hematology/oncology and allergy/immunology, including bone marrow biopsy, had been reassuring with no significant findings, though she continued to be followed closely by both teams. Echocardiogram, serum calcium, and parathyroid hormone were normal. Ophthalmology exam showed retinal hypopigmentation of unclear etiology for which she was referred to a retinal specialist. A renal ultrasound had not yet been performed.
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PubMed
| 38,974,394
|
A 19-year-old male suffered from SHM for seven years following a trauma that resulted in a fracture at T12. The patient reported severe low back pain following a sledding injury. The focus of the imaging was on the thoracolumbar spine. He was evaluated and treated at a small hospital in rural Wyoming, United States. He was referred to a larger hospital for evaluation and treatment of the spine injury. Magnetic resonance imaging (MRI) demonstrated microtrabecular fractures with bone bruising at T12-L3 and an acute compression deformity at T12 (MRI report available upon request). The lumbar spine was treated with narcotic medications and non-steroidal anti-inflammatories.\n\nThe patient began to have headaches with aural symptoms initiating with fullness and thick sensation in the tongue which would lead to poor and slurred speech. The numbness and tingling would then spread to one side of the face. The opposite side of the face would then droop and lose motor function, further worsening the speech symptoms. The medical evaluation was performed by a small physician's office more than seven years prior to the patient receiving treatment in the facility, and the records of the initial diagnosis are unavailable. The patient's facial symptoms were initially diagnosed as Bell's palsy, but the symptoms progressed frequently to the upper extremities, and he would progressively lose sensation on one side of the torso with simultaneous contralateral motor loss. This would move from the head and neck down to the lower extremities, and the sensory and motor losses would frequently change and alternate sides.\n\nAll of this was associated with an extremely sharp pain behind the eye on the side of the sensory change unilaterally. The intense sharp head pain was severe enough to cause absolute photophobia during the event. The vision in that eye would have bright flashes, floaters, frequent loss of vision across parts of the field, and occasional complete loss of vision on the side of the eye and head pain. The patient also reported head pain that would be consistent with daily tension-type headaches occurring until receiving the treatment described in this study. The SHM headaches would happen 2-3 times per week initially and at best throughout the seven years prior to treatment were 2-4 times per month. The severity and duration of these headaches caused significant suffering and loss of productive function. Due to the long-term nature of the condition, the diagnoses of epilepsy and encephalitis were ruled out.\n\nThe patient was treated initially with narcotics for pain due to the thoracic spine injury, anti-inflammatories including ibuprofen, and, later, large doses of Excedrin migraine medicine for over seven years, and in 2017, he began to receive treatment for the lower back pain with a chiropractor performing spinal manipulative therapy. The spinal manipulation would relieve the back pain temporarily but had no effect on the daily chronic headaches and no reduction in the severity, duration, or frequency of the SHM.\n\nThe patient reported never meeting his biological father and having no knowledge of the health history of the paternal side. The patient's maternal lineage had a headache and migraine headache history with a note that his maternal grandmother suffered from occasional headaches and an episode of Bell's palsy, causation unknown. No other familial genetic tests were known to have been performed to determine if the SHM had a genetic contribution. Possibly, the initial diagnosing physicians were unaware of the genetic diagnoses or disregarded the testing due to the apparent traumatic causation.\n\nConsultation and history found the patient had neck stiffness bilaterally and intermittently from the upper cervical spine to the upper trapezius muscles. Frequent and severe tinnitus was reported and aura-associated prior to the migraine pain. He had periodic disabling headaches that would begin with sensory abnormalities and aura and result in severe debilitating motor symptoms including bilateral and/or unilateral numbness, tingling, and aching pain reported using the quadruple visual analog scale (QVAS total 33/100) [14] causing disability in both arms. The weakness and altered sensation would cease with the cessation of the headache which ranged from 24 to 72 hours. He had these headaches 2-4 times per month, and the location of the head pain was mostly, but not exclusively, the left side of the temporal region. Concerningly, he reported that during the migraine, his lower extremities would also alternatingly become weak, numb, and tingling and would be associated with pain, disabling cramping, and motor weakness throughout his body.\n\nA significant complaint was the cramping of muscles prior to and during SHM. During the initial evaluation, he reported cramping in the gluteus medius muscles bilaterally, bilateral thoracic paraspinal muscle cramping and spasm, and increased pain with all range of motion (ROM) testing (QVAS/thoracic pain 67/100). He also reported moderate to severe mid to low back pain frequently at the thoracolumbar junction from multiple positions. Frequently, the patient experienced gastroesophageal reflux disease (GERD), and periodic and lifelong winter-month lung infections were also reported.
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PubMed
| 38,895,002
|
An 81-year-old woman with a history of coronary artery disease post percutaneous coronary intervention, hyperlipidemia, and cardiac arrest post pacemaker placement presented to the hospital with 3 weeks of progressive urinary and bowel incontinence, saddle anesthesia, lower extremity weakness and sensory loss, and gait impairment. Approximately 3 weeks prior to presenting to the hospital, she received one 10 mg dose of dexamethasone for presumed cauda equina syndrome, but this did not improve her symptoms. The patient denied any other symptoms. Physical exam on admission showed an afebrile, normotensive patient with a slow, wide based gait, mild bilateral lower extremity numbness, right foot drop, and decreased rectal tone.\nComputed tomography (CT) of the head and chest/abdomen/pelvis revealed no abnormalities. Magnetic resonance imaging (MRI) with contrast showed several nodular, ring enhancing soft tissue masses within the thecal sac along the cauda equina and lower thoracic spine (Figure 1, a1, a2). The patient\u2019s cerebrospinal fluid (CSF) results were significant for lymphocytic pleocytosis (365 white blood cells per mm3, 97% lymphocytes), decreased glucose (33 mg/dL), and elevated protein (158 mg/dL). CSF cytology showed many lymphocytes and flow cytometry was inconclusive. Rapid meningitis panel was positive for Herpes Simplex Virus 2 (HSV-2). HSV-2 polymerase chain reaction (PCR) returned positive a few days later. Acyclovir was started and subsequently stopped as the presentation was thought to be inconsistent with HSV-2 meningoencephalitis. The combination of the patient\u2019s age, neurologic findings, and imaging findings were felt to be more suggestive of leptomeningeal carcinomatosis (LC) from an unknown primary source, possible steroid treated leptomeningeal lymphoma, or inflammatory disease with infection being less likely. Given the possibility of hematologic malignancy and the patient\u2019s recent use of prednisone potentially obscuring the diagnosis, a repeat CSF analysis was performed to send a large volume for cytology and flow cytometry. Results again revealed a persistent lymphocytic pleocytosis (213 white blood cells per mm3) and elevated protein (189 mg/dL) with a normalized glucose (46 mg/dL). Lactate Dehydrogenase was also found to be elevated in the CSF. Cytology revealed large lymphocytes, suggested to be immunoblasts as a result of reaction to viral infection. Flow cytometry did not reveal any notable abnormalities. B. burgdorferi PCR was negative while repeat HSV PCR remained positive for HSV-2. Positron emission tomography (PET)/CT imaging was done to further screen for underlying primary malignancy, as the patient had no prior history of cancer. This showed hypermetabolic activity in the lower thoracic and upper lumbar regions of the spinal cord but did not demonstrate any other systemic lesions, masses, or lymphadenopathy to suggest a systemic malignancy.\nBased on the repeatedly positive HSV-2 PCRs, negative malignancy workup, and clinical picture, the patient was diagnosed with HSV-2 sacral radiculitis and was started on intravenous acyclovir for 27 days after consultation with infectious disease. Adjunctive corticosteroids were not used during this course of acyclovir. Following the initiation of acyclovir treatment, the patient subjectively reported an improvement in her saddle anesthesia, some improvement in her lower extremity numbness, but continued to have urinary/bowel incontinence. A repeat MRI of the lumbar spine was performed 21 days after treatment initiation and revealed the dominant lesion had thickened and demonstrated increased enhancement, suggesting further inflammation of the cauda equina nerve roots. At this time, the patient reported improvement in all her symptoms, including bowel and bladder function. After completing the full course of acyclovir she reported that she was \u201c70% improved\u201d overall. She was transitioned to long-term high dose oral valacyclovir at a dose of 1g three times daily (TID) due to persistent symptoms for 3 months. Repeat imaging after 10 weeks revealed a reduction in the size of the previously seen nodular, ring enhancing lesions. The diffuse enhancement of the cauda equina nerve roots had also decreased. At this time, she was transitioned to high dose valacyclovir two times daily (BID) to prevent relapse. Serial imaging at 3, 6, 9, 15, and 21-months post-treatment revealed gradual improvement and ultimately resolution of enhancing lesions (Figure 1). The patient\u2019s symptoms gradually improved over this period with some persistent incontinence. She remains on lifelong high dose valacyclovir BID for viral prophylaxis.
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PubMed
| 38,799,111
|
A 64-year-old male patient presented to our emergency department with acute onset chronic fatigue, pallor, and shortness of breath. His past medical history was significant for JAK2-mutated polycythemia vera, diagnosed approximately 5 years prior. Since his diagnosis of polycythemia vera, he required intermittent therapeutic phlebotomy and was treated with hydroxyurea for approximately 4 years. Over 1 year before presentation, he was transitioned to ruxolitinib. Baseline blood counts included a hemoglobin of 14 g/dL and white blood cell count of 30,000 to 40,000/uL.\n\nBefore his presentation to the emergency department, he had spent the prior 10 days admitted at an outside hospital for similar symptoms. He was noted to have bilateral lung infiltrates on chest computed tomography (CT) and was started on broad-spectrum antibiotics, antifungals, and steroids for presumed infectious pneumonia of unclear etiology. Ultimately, his infectious workup was negative; however, he continued to be hypoxic and required high-flow nasal cannula during his admission. There was concern for possible development of acute myeloid leukemia (AML), and he underwent a bone marrow biopsy. His hospitalization was also complicated by acute kidney injury. After 10 days in the hospital, his respiratory symptoms stabilized, but he continued to require supplemental oxygen, and he was discharged on 2 to 3 L via nasal cannula. The patient's ongoing symptoms prompted him to present to our emergency department. He reported having significant fatigue and shortness of breath. His family had noticed increasing pallor and somnolence at home before presentation. He denied having cough, chest pain, palpitations, or abdominal pain.\n\nOn presentation, he was somnolent but arousable to voice. He was afebrile, borderline tachycardic with heart rate in the 90s, and hypertensive, with a blood pressure of 150/90. His oxygen saturation was in the mid-90s despite him being on 10 L of supplemental oxygen via nonrebreather mask. Laboratory studies were significant for white blood cells of 100.25 \u00d7 103 (normal: 4.16-9.95 \u00d7 103/uL); hemoglobin, 10.8 (normal: 13.5-17.1 g/dL); platelets, 241 \u00d7 103 (normal: 143-398 \u00d7 103/uL); lactate dehydrogenase, 2425 (normal: 125-256 U/L); D-dimer, 2.35 (normal < 0.60 ug/mL); lactate, 23 (normal 5-25 mg/dL); and procalcitonin, 0.78 (normal < 0.1 ug/L). A chest CT angiogram was ordered to rule out pulmonary embolism, which demonstrated diffuse interlobar septal thickening with coalescent ground-glass attenuation of the upper lung and dependent consolidative densities in both lungs concerning for severe pulmonary edema, trace bilateral pleural effusions, and subsegmental atelectasis of bilateral lower lobes. No evidence of pulmonary embolism was identified. CT of the abdomen and pelvis demonstrated marked hepatosplenomegaly of unclear etiology. He was started on broad-spectrum antibiotics with vancomycin, cefepime, and azithromycin.\n\nWith concern for possible infectious etiology, Infectious Disease was consulted, and a comprehensive infectious workup was initiated, particularly to rule out alternative atypical infections, which included MRSA nares screening, respiratory pathogen panel polymerase chain reaction (nasopharyngeal and included COVID-19), hepatitis B antigen and antibodies, hepatitis C virus antibodies, HIV 1/2 antigen and antibodies, Cryptococcal antigen, Legionella antigen, Aspergillus antigen, Histoplasma antigen, Strongyloides antibodies,1,3-Beta-D-Glucan (Fungitell) assay, and bacterial blood culture. Notably, his Coccidioides IgM was positive at 0.477 (normal: <0.150), and Cocci TP Ab was indeterminate; however, all other Coccidioides testing was negative, including Coccidioides IgG and Coccidioides antibody (complement fixation). Coccidioides IgM has a high false positive rate; therefore, confirmatory testing was pursued. He was started on fluconazole (400 mg every other day) for empirical treatment while confirmatory tests were pending, given his immunocompromised status and high likelihood of prior exposure. He was also continued on cefepime, vancomycin, trimethoprim/sulfamethoxazole, and azithromycin, as well as acyclovir for possible bacterial, viral, or fungal pneumonia.\n\nOn Hospital Day 2, vancomycin and trimethoprim/sulfamethoxazole were discontinued. He underwent bone marrow biopsy. He also started to require blood transfusions (Hgb of 7.8 with protocol to transfuse if Hgb <8) and received a unit of packed red blood cells (pRBC).\n\nOn Hospital Day 3, chest x-ray revealed unchanged patchy and confluent ground-glass and air space attenuation involving the left greater than right lung, consistent with capillary leak edema, pulmonary hemorrhage, and/or multifocal pneumonia. He received an additional unit of pRBC.\n\nOver the next several days, he developed worsening hypoxic respiratory failure and acute kidney injury thought to be secondary to auto-tumor lysis syndrome and volume overload. He was started on methylprednisone for worsening respiratory status. A bronchoscopy showed DAH. He was started on inhaled tranexamic acid and aminocaproic acid. He continued to require a unit of pRBC daily, and on Hospital Day 6, a unit of platelets was also transfused, as his platelets had dropped to 67 \u00d7 103/uL, and he had ongoing active bleeding.\n\nGiven his new diagnosis of DAH, a broad differential diagnosis was considered and included possible autoimmune causes (although no obvious systemic symptoms), infectious causes (although patient was afebrile and with infectious workup largely negative), or exogenous exposures from drug/medication-related side effects (the patient recently started on ruxolitinib, with no history of cocaine use). A complete evaluation was initiated with rheumatology, infectious disease, and hematology/oncology teams consulted to assist in identifying the etiology of his DAH. The infectious disease workup initiated on his admission was expanded with additional bronchoalveolar lavage (BAL) studies, including a Gram stain that demonstrated no bacteria, few white blood cells, and many red blood cells. The remaining BAL infectious workup was negative and included acid fast stain, respiratory pathogen panel polymerase chain reaction, bacterial culture, fungal stain and culture, Legionella culture, pneumocystis direct detection assay (sputum and BAL), and Nocardia culture. Urine analysis and bacterial culture were also negative, as well as repeat blood fungal and bacterial cultures and cytomegalovirus DNA polymerase chain reaction.\n\nInflammatory markers were elevated, including erythrocyte sedimentation rate at 15 (normal, \u226412 mm/h), C-reactive protein at 9.6 (normal, <0.8 mg/dL), and ferritin at 2,564 (normal, 8-350 ng/mL). However, the remaining rheumatologic workup was negative, including C-ANCA, P-ANCA, proteinase-3 antibody, myeloperoxidase antibody, ANA, anti-GBM IgG, cryoglobulins, rheumatoid factor, cardiolipin antibody, total CK, cyclic citrulline peptide antibody/IgG, C3, C4, dsDNA antibody, SSA/SSB antibody, Sm/RNP antibody, histone antibody, Beta-2-glycoprotein antibodies, aldolase, centromere antibody, Jo-1 antibody, Scl-70 antibody, MI-2 autoantibody, myositis panel (HMGCR antibody), and direct antiglobulin test. Urine drug screening was also negative.\n\nOn Hospital Day 7, in the late afternoon, he had worsening hypoxia and ultimately required intubation.\n\nOn Hospital Day 8, peripheral blood smear showed a leukocytosis, including numerous left-shifted myeloid cells with abnormal granulation. Macrocytic anemia and thrombocytopenia were also noted. Bone marrow biopsy demonstrated markedly hypercellular marrow (95% cellularity) with increased blasts with a myeloid predominance. Moderate bone marrow fibrosis was noted (MF score, 2 out of 3) with reduced erythroid and megakaryocytic hematopoiesis. Flow cytometry studies revealed no excess level of blasts but did note the presence of myeloblasts (3% of total) with left-shifted granulopoiesis. Further cytogenetic testing revealed inversion of chromosome 16 (inv(16)). Molecular testing revealed mutations in ASXL1, DNMT3A, JAK2, TET2, and NOTCH1 (VUS). Taken together, these studies were suggestive of AML with inv(16), which can present with a low blast count. He required 4 units of pRBC and 1 unit of platelets.\n\nGiven his acute status in the setting of a newly confirmed diagnosis of AML and known JAK2-mutated polycythemia vera, the etiology of his DAH was determined to be EMH in the lungs secondary to AML. He was started on cytarabine (Hospital Day 8, Chemo Day 1) and continued on his home ruxolitinib (reduced dose given concurrent use of fluconazole). Radiation oncology was consulted to explore the potential for concurrent, low-dose radiation therapy (RT). The multidisciplinary consensus was to treat with a single fraction of 100 cGy delivered AP/PA to the bilateral lungs using a clinical setup (Fig. 1). He was also continued on intravenous aminocaproic acid and inhaled tranexamic acid. He completed a 5-day course of daily IV 500 mg cytarabine. The initial plan was to complete low-dose RT on day 2 of this course, but unfortunately, he was not stable enough for transport to the radiation oncology department, as he required 3U pRBC and 2U platelets and was found to be acidotic, prompting initiation of continuous renal replacement therapy. He stabilized over the next 2 days and was able to undergo RT as planned on Hospital Day 11 (Chemo Day 4).\n\nThe day after receiving RT, he underwent repeat bronchoscopy with no signs of active bleeding and was able to be extubated. Tranexamic acid and aminocaproic acid were discontinued. For the next several days, he was continued on continuous renal replacement therapy, antibiotics, and an extended prednisone taper with intermittent requirement for pRBC and platelet transfusions.\n\nAntibiotics and antifungals were discontinued 2 days later (Hospital Day 14) because of elevated liver function testing, and the next day, confirmatory tests for Coccidioides were negative.\n\nSix days after completion of RT (Hospital Day 17), he was stable and was discharged from the ICU. He was continued on ruxolitinib and extended prednisone taper. Over his 17-day hospitalization, he required 14 total units of pRBC and 12 total units of platelets (10U pRBC and 6U platelets before RT and 4U pRBC and 6U platelets after RT).\n\nOne month after hospital discharge, he underwent a repeat bone marrow biopsy with 2% myeloblasts and 2% signal of inv(16) with persistence of the genetic mutations noted above. The diagnosis of AML was confirmed, and treatment was initiated with plans for future bone marrow transplantation.
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PubMed
| 38,820,328
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Written informed consent was obtained to publish protected health information in this report, and identifying details were changed where possible to protect anonymity. This patient is a 24-year-old transgender man with a psychiatric history significant for bipolar II disorder, unspecified trauma or stressor-related disorder, generalized anxiety disorder, and alcohol use disorder in early remission. His medical history includes severe persistent asthma without complications, allergic rhinitis, urticaria, and anaphylactic allergies to tree nuts and shellfish. On initial presentation to ambulatory psychiatry, he described persistently low mood, lack of motivation, self-isolation, anhedonia, and passive wish for death in addition to a history of several weeklong periods of mood elevation meeting clinical criteria for hypomania.\n\nHe was not taking any psychotropic medications at the time of evaluation, and his asthma was well controlled with the combination of an inhaled glucocorticoid, 2 long-acting bronchodilators, a leukotriene inhibitor daily, and IL-4 monoclonal antibody injections twice monthly. It had been several months since his last asthma flare, and he reported using his rescue inhaler only once every 2\u20133 months. He was prescribed 20 mg lurasidone daily for the indication of bipolar II depression. Within days of starting this medication, he experienced increasing difficulty with deep inspiration and dyspnea on exertion requiring the use of an inhaled short-acting bronchodilator 2\u20133 times daily.\n\nHe stopped taking lurasidone after 1 month and was subsequently started on 1.5 mg cariprazine, but also stopped this within several weeks due to recurrent dyspnea despite some interval improvement in mood symptoms. Respiratory symptoms resolved almost immediately, and frequency of rescue inhaler use returned to baseline after discontinuation of lurasidone and cariprazine, respectively.\n\nHe was then transitioned to 42 mg lumateperone given the positive response to cariprazine, but again developed significantly impairing respiratory side effects including dyspnea at rest and with exertion. Despite this, he was able to tolerate this regimen until 6-week follow-up and reported a significant improvement in mood symptoms including increased motivation, hedonic capacity, and a reduction in suicidal ideation. This patient was seen exclusively by telehealth, and a physical examination could not be performed. He denied constitutional symptoms, cough, and chest pain or other associated concerns; however, the initial differential diagnosis included respiratory infection, pneumonia, subacute pulmonary embolism, and parenchymal lung diseases in addition to asthma exacerbation given his history.\n\nBased on the timeline, quality and duration of his symptoms, and their consistent response to inhaled albuterol, medication-related exacerbation of underlying asthma was determined to be the most likely cause. His dose of lumateperone was subsequently decreased to 21 mg daily, and asthma symptoms partially improved; however, his mood worsened significantly. He described feeling short of breath only with exertion and required use of his rescue inhaler once every 2\u20133 weeks while taking the lower dose, but experienced a significant recurrence in suicidal ideation shortly after this change was made. He was eventually stabilized on the combination of 21 mg lumateperone and 1000 mg valproic acid daily but continues to experience mild-moderate respiratory and depressive symptoms.
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PubMed
| 38,669,814
|
Our patient is a 75-year-old female with a 50-pack-year smoking history, hypertension, hyperlipidemia, and chronic obstructive pulmonary disease. In May 2021, she presented with a fungating lesion of the hard palate. Biopsy revealed invasive, poorly differentiated squamous cell carcinoma with spindle and plasmacytoid-appearing cells. Immunohistochemistry suggested malignant cells were positive for PD-L1, cytokeratin AE1/2, CK5/4,p40, p63, and vimentin. Malignant cells were negative for p16 and HHV-8. Ki-67 demonstrated a proliferation index of up to 30 %. The PET scan indicated a 3.2 cm hypermetabolic palate mass and several sub-centimeter bilateral neck lymph nodes with mild uptake, raising suspicion for local disease spread.\n\nThe patient subsequently underwent a wide resection with palatomaxillectomy, bilateral neck dissection, and free tissue reconstruction. The final pathology revealed spindle cell SCC, grade 3, poorly differentiated without lymphovascular invasion, perineural invasion, or tumor involvement of regional lymph nodes. The final pathologic stage was pT3 pN0 pMX. Immunohistochemistry demonstrated PD-L1-positive and P16-positive malignant cells. Adjuvant radiation treatment consisted of 60 Gy in 30 fractions.\n\nEight months following treatment of her hard palate SCC, she developed a new lesion of her tongue base. Biopsy revealed p16 negative invasive, moderately differentiated squamous cell carcinoma, and the tumor cells were positive for PD-L1, CK AE1/AE3, CK 5/14, p40, p63, and CK 7 (focal). Treatment consisted of chemotherapy with Cisplatin and radiation to the tongue base.\n\nSeven months following treatment of her oropharyngeal malignancy, a surveillance PET scan revealed uptake in the left tongue and right thyroid. Interestingly, given the post radiation contracture, it was unclear whether the uptake was truly in the thyroid or in the adjacent cervical node basin. The biopsy of the left tongue was negative for malignancy, though the nodal biopsy from the right neck revealed SCC likely involving the thyroid. She then underwent total thyroidectomy, bilateral central, and right lateral neck dissection with a pectoralis major flap for reconstruction. Pathology revealed metastatic multifocal SCCs in the right thyroid with three involved lymph nodes. Immunohistology stains of these cells were positive for pancytokeratin (AE1/AE3), CK5/14, p63, and p40
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PubMed
| 38,410,872
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A 15-year-old girl originally presented to medical attention with a granulosa-theca cell ovarian tumor which was surgically resected. She subsequently developed stage 2 bilateral ER+/PR+ breast cancer at the age of 30 and was treated with bilateral mastectomies and left axillary lymph node dissection with positive lymph nodes. This was followed by adjuvant chemoradiation therapy with four cycles of doxorubicin, cyclophosphamide, and paclitaxel as well as radiation to the bilateral supraclavicular fossa, axilla, and mastectomy scar. She then completed 7\u2009years of maintenance endocrine therapy with tamoxifen. Three years after completion of therapy, she developed multiple cutaneous angiosarcomas at prior radiation-exposed sites, which were surgically resected and then treated with immunomodulation therapy with interferon alpha for 1 year. At the age of 50, a significantly elevated white blood cell count was noted at the time of evaluation of new upper respiratory symptoms. She was referred to hematology/oncology, and a bone marrow biopsy diagnosed a therapy-related AML with 64% blasts in the setting of trilineage dysplasia, with complex cytogenetics and NGS mutational panel positive for a pathogenic variant in TP53, p.Arg342Ter. The variant allelic frequency of the TP53 mutation was not reported. She was transferred to our institution for further oncologic care and initiated on systemic chemotherapy and immunotherapy; however, follow-up bone marrow biopsy showed persistent disease. She received multiple lines of treatment and ultimately achieved complete remission with persistent MRD. A haploidentical allogeneic SCT was then performed using one of her adult daughters as the donor. Her post-transplant course was complicated by the development of grade 1 graft versus host disease with upper gastrointestinal manifestations. Her day 30 marrow confirmed an ongoing clinical remission with full donor engraftment and negative MRD by flow cytometry, but, surprisingly, persistence of the same pathogenic variant in TP53, p.Arg342Ter. The variant persisted on her day 90 marrow, and at this time concern was raised that this TP53 pathogenic variant could be of donor origin from her daughter. She was referred for genetic counseling within the hereditary hematologic malignancy clinic. A three-generation pedigree was obtained. The family history was significant for multiple paternal aunts with early-onset breast cancer and multiple paternal uncles with colon cancer. The psychosocial implications of germline genetic testing for LFS were reviewed with the patient, and informed consent was obtained. The patient opted to proceed with germline genetic testing on cultured fibroblasts via skin punch biopsy. Genetic testing identified the pathogenic variant in TP53, p.Arg324Ter, in the patient's fibroblasts, confirming germline origin. The patient's donor daughter was also confirmed to have inherited the variant. The patient was followed closely and unfortunately a repeat bone marrow biopsy roughly 6 months after SCT showed recurrent AML. She received additional salvage chemotherapy; however, it was unsuccessful, and she transitioned to comfort care in the setting of persistent leukemia and multiorgan failure due to overwhelming neutropenic sepsis.
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PubMed
| 38,880,977
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An 8-year-old boy who was previously diagnosed with spastic CP because of toe-walking, tight tendo-achilles, and frequent falls was referred to the Neurology movement disorder clinic for asymmetric increasing hypertonia. The patient was born full-term via an uncomplicated C-section to a 25-year-old G5P2A3 mother. Maternal history was complicated by Von Willebrand\u2019s Disease, arteriovenous malformation causing recurrent headache and the patient\u2019s large size. The mother was prescribed progesterone in her first trimester due to her miscarriage history. Patients\u2019 family history has no evidence of autistic spectrum disorder, developmental delay, intellectual disability, cerebral palsy, seizures, cancer, or unexplained death. He is the second child born to his non-consanguineous parents. His mother and father are both of Caucasian ancestry. The patient\u2019s birth history was unremarkable with a standard birth height and weight of 8 lbs 9.5 oz and 21.5 inches, respectively. Infancy was notable for recurrent ear infections that resolved with tympanostomy at 18 months. At 2 years of age, concerns were raised about the possibility of autistic spectrum disorder due to significant language delay and toe walking. The patient was also diagnosed with spastic cerebral palsy at this time due to frequent clumsiness and tripping in addition to the previously noted toe walking and developmental delay (motor and speech). Subsequently, around 3 years of age, the patient was officially diagnosed with autistic spectrum disorder due to speech-language delay, repetitive behavior, and inconsistent eye contact.\nUpon examination by neurology, focal/segmental dystonia was noted with the background of generalized dystonia, present in the right upper extremity with dystonia of both the lower extremities and fixed plantar flexion deformity. There was also a noticeable decline in motor and cognitive function particularly walking and speaking, (due to facial dystonia). Pertinent negatives include no visual changes, absence of hyperreflexia and Babinski reflex, and no history of seizures. We concluded that the patient was initially misdiagnosed with CP, as there were no known insults to our patient during fetal development, and the condition was progressing.\nMagnetic Resonance Imaging (MRI) of the patient\u2019s brain exhibited a symmetric signal (hyperintense T2 weighted imaging and hypointense Susceptibility weighted imaging) in the bilateral globus pallidus commonly known as the \u201ceye of the tiger sign\u201d which may be caused by iron deposition (Figure 1). Based on the physical examination findings and MRI there were concerns for neurodegeneration with brain iron accumulation (NBIA)/pantothenate kinase-associated neurodegeneration (PKAN).7 Genetic testing was ordered to aid in this potential diagnosis. Initial genetic testing, Autism/Intellectual Disability (ID) expanded panel, yielded a negative PANK2 result. This made a diagnosis of PKAN less likely. However, we were not convinced based on the MRI and clinical picture, and whole exome sequence (WES) was ordered. WES testing yielded a biallelic mutation of PANK2. The first mutation was a partial gene deletion in PANK2 gene and the second was a pathogenic mutation of c1682 G>A p.(G561E) in PANK2 gene, which together confirmed the diagnosis of PKAN. The three-exon deletion in PANK2 was not detected in the Autism/ID expanded panel because copy number variants of less than 3 exons cannot be reliably detected. This deletion was right at that cutoff so yielding a positive result depends on the quality of the data from the sample. The PANK2 c.1682 G>A variant was detected, but without the other deletion, only 1 mutation in an autosomal recessive condition is not considered significant. Both parents have been confirmed to be carriers for this condition. Therefore, all their children have a 25% chance of being affected and a 50% chance of being carriers. This situation further exemplifies the importance of physician judgment in the diagnosis of rare syndromes like NBIA\u2019s. Genetic testing confirmed the diagnosis of PKAN and allowed the physician to move forward with treatment with an iron-chelating agent, Deferiprone. After treatment with Deferiprone along with Trihexyphenidyl the patient showed improvement. He could walk more independently, demonstrated increased dexterity and his speech improved. However, subsequent follow-up evaluations revealed progressive intractable generalized dystonia despite treatment with trihexyphenidyl, baclofen, benzodiazepines, levodopa, and botulinum toxin.
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Reddit - AskDocs
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26F, no medications or medical history. Moderately active. Good diet. I work an office job but alternate between sitting and standing, and go on a 5-10 min walk every hour or so. I dont wear particularly tight clothing or shoes. I dont smoke, drink, BMI of around 19. I have been having circulation issues for about 6 or so months now. Its gotten extremely bad in the last week. I saw my GP about it last week and she referred me to a podiatrist. Symptoms: My feet are purple, bordering on black intermittently. No apparent triggers. Cramping and tightness in calves, especially when standing and walking. No sensation at all in left foot, minimal in right. I cant move my toes or lift my feet up and down on left foot, right foot and toes are weak but still movable. Deep itching in my feet, particularly the right foot. Its like I'm itchy but its the inside of my foot so I cant scratch it. Intermittent swelling of ankle, foot and leg (normally wake up with little to no swelling then gets progressively worse through the day). Left is far worse than right. My feet are ice cold even when the rest of me is burning hot and sweating. My hands are basically fine and just get pale when Im extremely cold. Nothing can warm my feet up. Fast heart rate randomly. Lately when I exercise, my heart will go over 200bpm. This can also happen randomly but its always triggered by exerting myself even just a little, but Im normally very fit. The podiatrist did some tests: capillary refill was about 30 seconds on left foot, 20 seconds on right foot couldnt detect any pulse by palpating or Doppler on left foot, momentarily found a week pulse on the bottom of my right foot with the Doppler, but not on the top. ABI and TBI inconclusive/error due to pulse issue. left arm BP was 119/84, right arm BP was 114/75. The podiatrist called an ambulance. I waited for over 8 hours in the ED for them to do an ECG, look at my feet (capillary refill was just as slow), and the Dr sent me home with a diagnosis of chilblains. I cant help but think that this is not accurate. My feet seem to be dying, and nobody is interested in figuring out the issues. The Dr went on about you're talking to an emergency physician with blah blah blah training and dismissed my concerns, and now Im freaking out. EDIT: I just remembered that the TBI test on the right did have a result of 45. Podiatrist said it should be about 100 for someone like me."
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Reddit - AskDocs
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Hi. I'm a 51/F, weight - 180lbs, no high blood pressure, no diabetes, no history other than developing SVT and other ectopics since being diagnosed with Covid last July.\n\nI was just diagnosed with a nasty upper respiratory infection on July 13th (symptoms first started on July 10th). Had all the Covid symptoms but PCR on July 13th was negative. I was seen in the urgent care on the 13th & again on the 14th. On the 13th, I was just given a PCR test and told to just ride it out. On the 14th, I was way worse and coughing up green / brown mucus. So on the 14th, I was given a rocephin shot and given rx cough meds, told to take an antihistamine, and amoxicillin. I have a history of SVT since I had Covid last year so my selection of meds are now very limited. This is the first time l've been sick since I was diagnosed with SVT and it's definitely a different road. I used to get a steroid injection and better within a day or two when I'm this congested but can't any more per the direction of my cardiologist. I have not been able to take my amoxicillin because on my first dose, I had a run of SVT that I was (thankfully) able to self-convert.\n\nFast forward- the rocephin shot made a marked difference in how I felt by almost that evening. Felt much better and started coughing up a bunch of 'junk. Sinuses started to clear as well and the green mucus turned clear and is going away. However, since yesterday (7/20), I've been getting a low grade fever again, slight chills, and generally feeling unwell again. I'm still coughing up mucus but not feeling like it's doing much good.\n\nHonestly, after being so sick for so long, l'm at a loss as to what to do. I'm exhausted and can't get well. I know some of it is because I can't take hardly anything but wondering what my next steps should be. Are there truly any antibiotics that won't cause tachycardia and SVT for me??\n\nI'm scared I'm going to get pneumonia or something. This is the sickest l've been in a very long time. Any thoughts are more than welcomed. I'll be going to the urgent care later today.
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Reddit - AskDocs
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Little bit of a background I'm a 22 year old male. On April 15th, 2024, I had an eardrum repair surgery due to my eardrum being ruptured and when I awoke, I couldn't feel my arms and legs. To make a long story short, spent a week in the hospital, had urinary retention and constipation, was sent home after doing multiple MRIs and CTs, blood work, and other testing, they couldn\u0092t figure out anything pathological or medical, insisting psychological. Developed the use of my arms again for a few weeks until May 3rd when I lost the ability to use them again as well as the ability to speak. No movement in legs still, but insane amount and severe leg pain. Spent two weeks in hospital, did the same tests, still no reason as to what happened. Went to rehab after I got the use of my legs back with high dose steroids.\n\nI\u0092m currently on vitamin D, senna, anxiety meds called Wellbutrin, and that\u0092s it.I've been having some medical episodes as of late accompanied by horrendous chronic pain and fatigue in my arms and legs. Its incredibly difficult to move around still, my balance is very impaired and its hard to walk. I also twitch very often in my legs to the point where it makes it difficult to sleep.\n\nThese medical episodes start off with me not being able to breathe properly, I get really short of breath and my heart rate goes up, I cannot move my legs nor my arms again, and I kind of zone out a little as well as I cannot talk. It takes my husband multiple tries with stimulus to the sternum and my legs to get me going again. I had multiple on Friday last week, then on Saturday, and one episode this morning where my husband had to help me from the bathroom to the bedroom because I couldn't walk.I'm really scared I'm going to end up like I was a few months ago and end up in the hospital for weeks again not able to do anything but just lay there. I don\u0092t want to go back to rehab again either. What could be causing this?\n\nEdit for clarification: Had a catheter for over a month for urinary retention, got it out on May 17th before I went to rehab, been using the bathroom both ways now for months just fine, still needing some help in the bowel department but not much. I\u0092m able to walk now too but like I said it\u0092s extremely difficult. Also suffering from high blood pressure. Doctors got off the bandwagon of psychological during the May visit, they're not insisting it is anymore. Im under a care of a neurologist right now but I don\u0092t see him for another two months. Plus, during the initial examination, all he did was conduct some stuff where he monitored the way I walk, did a reflex test, and that us about it. Asked me tons of questions (rudely if I can add) and then told me he can't tell me anything unless I provide him with records which I\u0092m in the process of trying to get.\n\nI didn\u0092t provide any details of said examination at the hospital visits because there was barely any. First hospital visit they ran the tests I mentioned; ct, mri, blood work, etc. Didn't find anything concerning. Second hospital stay they did the same thing. Second hospital stay I did get a brain wave scan done but it was inconclusive. That\u0092s all they really did for me. I did get some reflex tests done there as well. Doctors refused to do further testing, wanted to bring me to a better hospital equipped with more machines, but the better hospital denied my case. Doctors didn\u0092t go into detail as to why. So they refused to do further testing and then just sent me to rehab.\n\nThe university hospital you recommend is also the same hospital that denied my case. Thats the only hospital like that within my area.
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I (28F) posted originally 3 weeks ago, but didn\u0092t gain any traction or answers, I thought I\u0092d try again.\n\n3 weeks ago I had a PET/CT scan which showed avid lymphadenopathy above and below the diaphragm, with splenic and bone marrow avidity. Today I underwent an excisional biopsy of the left inguinal lymph nodes, it was originally supposed to be 1 lymph node excised but the surgeon advised me post-op that I had clustered lymph nodes and therefore 3 had to be removed instead. Is this common for lymph nodes to cluster like that? I have posted photos of the lymph nodes that you can find in my post history. FDG-PET/CT results are also in my post history.\n\nIn post-up recovery I asked the surgeon for his opinion of the physiological appearance of the lymph nodes he said \u0091lymphoma\u0092. Rheumatology team believes I have sarcoidosis. Could it be possible that this is sarcoidosis-lymphoma syndrome? I understand this is rare.\n\nMy autoimmune symptoms began 10 years ago, and I was initially diagnosed with seronegative arthritis, but have been in a constant battle with my own body for the better part of a decade with symptoms that I have recently been told \u0091don\u0092t all fit in one box\u0092, hence a new rheumatology team was referred at a large hospital and new investigations are and have been conducted.\n\nI won\u0092t list 10 years of symptoms, but here are the symptoms I began experiencing since January 2024 (or existing symptoms that became more intense):\n\nJoint and long bone pain\n\nMuscle pain, stiffness and cramping\n\nExtreme fatigue and hypersomnia\n\nDrenching night sweats\n\nIntermittent rashes and generalised itchiness\n\nVision changes (bright flashes in corner of eye), worsening of myopia requiring new glasses script\n\nSensorineural hearing loss, improved with a course of prednisone, but I now have constant tinnitus\n\nWeight loss (15kg since Jan \u009124)\n\nIntermittent nausea, and fullness below the ribs\n\nDeranged LFTS, increased CRP and ESR\n\nPalpable avid lymph nodes, particular in the neck that are hard, non-mobile, noticeably large but not painful\n\nPast medical history/surgeries:\n\nCauda Equina Syndrome, Microdisectomy L5/S1\n\nEndometriosis and PCOS, confirmed by laparoscopy\n\nTMJ that required percutaneous denervation\n\nSeronegative arthritis, confirmed by MRI\n\nTonsillectomy\n\nAny advice, opinions, thoughts are welcome. I know the histopathology from my biopsy will give me (hopefully) more definitive answers, but your input is still much appreciated, and quite frankly I\u0092m physically and mentally exhausted from all of this. Please ask if you require additional information or clarification. Thanks in advance!
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Reddit - AskDocs
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55 y/o female(never smoked, history of peripartum cardiomyopathy now recovered, pre-diabetes w/ last A1C 5.9; hypothyroidism controlled) ;\n\nHeight: 5\"10\n\nWeight: 140 lbs, BMI 20.1\n\nCurrent medications: Synthroid 125 mcg QD, Metformin 500mg QD; urology history as follows:\n\nunknown procedure at 2 years old (1971),description from my mom correlates with obstructive symptoms and resulting urethral dilation. NO significant follow up. NO reflux or recurrent UTIs so likely no bulking agents.\n\nIntermittent UTI starting at 21, occurring every maybe every 4- 8 years only. No hematuria,drug resistance, voiding symptoms or other. Very rare and very intermittent.\n\nUreteral stents in 2012 as part of colon resection for extensive sigmoid mass/endometriosis excision/sigmoidectomy performed only as safety precautions during surgery, removed immediately post-operatively. Pre-operative ureteroscopy does mention a mild squamous metaplasia at one ureter only with mild difficulty inserting scope to L ureter. Right ureter was clear and no mention of difficulty.\n\nTWO more laps for severe invasive endometriosis involving uterosacral nodules that persisted and grew despite previous hysterectomy.\n\nNO UTIs or voiding symptoms,etc. until 3/24/. NOW with recurrent MDR Klebsiella, MDR and multiple rounds of antibiotics for four months. Was placed on daily Keflex to prevent recurrence before procedure.\n\nCT (5/24)showed bilateral suspected ureteroceles, with 11mm (R) and 14 mm stones (L). NO pelvic adenopathy, no hydronephrosis,etc. eGFR >90.\n\nPlanned ureteroscopy and lithotripsy attempted 7/12, aborted after a 20 minute attempt to find the ureter openings. NO biopsy completed. *** It should be noted that this urologist (new to me since we are in a new town) waved off the printed report of the mildly difficult cystoscopy from my 2012 procedure and didn't want to read it at all. GRRR. He also waved off my concern that this could be also due to ureteral endometriosis.\n\nOperative notes proclaim me \"asymptomatic\" and since eGFR is normal and no hydronephrosis, I was sent home and told to follow up in 3 months. Urologist also noted the tissue build is \"likely due to bulking agents that were used in pediatric procedure.\"\n\nI can't stress enough that I am an otherwise healthy 55 year old female, fit and healthy (well aside from the raging predisposition towards diabetes despite my low weight and fitness regimen and my peripartum cardiomyopathy) in every way (5\"10, 140 lbs)and not complaining of any other urinary issue other than the recurrent UTIs which have been significant and interfering greatly in my lifestyle and work.\n\nWhat should my next steps be? I feel this urologist is extremely stone focused and wants to be done with me.\n\nUrogynecologist?\n\nRequest a biopsy?\n\nSee if UA will remain clear and then just be consistent with continued follow up for renal function and hydronephrosis?\n\nI would happily choose the least invasive route as long as I'm being monitored. I'm aware that if this is ureteral endometriosis it can definitely follow a path of renal dysfunction and hydronephrosis and that terrifies me tbh.\n\nDifferential diagnosis IMHO includes trigonitis vs. squamous metaplasia vs. ureteral endometriosis?
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Reddit - AskDocs
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37 woman Afab History: Myasthenia Gravis, hasimoto's, POTs, diastolic dysfunction, osteoporosis.\n\nMeds: Prednisone 20mg daily (5 years) Corlanor 5mg 2x daily Wellbutrin 300xl daily Rituxan every 6 months Reclast once per year\n\nI have lost 40 pounds in the last 5 months. I'm down to 165 from 205. This is nearly 20% body weight. I'm eating normally.\n\nI feeling really tired and generally unwell last November and by January was seeing my primary for blood work because it was getting to be too bad to ignore.\n\nNot much has been found but the weight loss is staggering and I'm exhausted. I have high creatinine (but only a little), low magnesium (only a little), hypogammaglobulinemia (but normal light chains), endocrinologist mentioned I am now slightly anemic but this is new. I had slightly high RBC and hematocrit only like 6 weeks ago.\n\nMy endocrinologist said she has nothing left to investigate that could possibly explain the weight loss from an Endo perspective. Just to cover all the bases she is testing me for tuberculosis?!?!\n\nShe also said that she is concerned that this might be related to my other gynecologic issues and wants me to follow up ASAP but the soonest I can be seen by gynecology is 2.5 months away.\n\nI've been having heavy inconsistent irregular bleeding for about 3 years. Last year I did go in and get a pap and an ultrasound because I was passing clots as large as my hand and sometimes having contraction like feelings when bleeding. I nearly passed out and my husband insisted I go in. I am sometimes not able to contain the bleeding when I stand up.\n\nThey said my uterus was a little enlarged and I had a fibroid but that it was too small to be the cause of my symptoms he said maybe it could be endometriosis. He said nothing could be done except a hysterectomy because he wasn't willing to scrape out my uterus given my health history as I would need to be in the hospital under anesthesia anyway. When I said \"ok let's do it\" he said I was too young and that if I had one and he found endometriosis on my ovaries I would have to lose them, go into menopause, and my bones would not be able to handle it. I can't take hormones due to DVT. He said I was too young but I am 37 and have 2 children.\n\nMy pelvis is heavy and hurts all the time. I have a lot of really painful cramping but usually it is mostly when I am bleeding or spotting. My periods are every 16-22 days (start to start) and I bleed for 7-10 days. It's awful and I spot in between. My sisters have had cervical cancer (without HPV) but I was clear on my pap last fall.\n\nWhat are the odds it's related? I'm really too young for this to be gynecologic, right?\n\nWhat else could it be? I have an oncologist (no cancer history I see him for my infusions) my primary sent me to him months ago for the hypogammaglobulinemia but I was only down 10lbs then and he said it wasn't anything to worry about and he would see me in August (for rituximab).\n\nMy endocrinologist said I need to go back to gynecology and oncology but gyno isn't available for months and I don't even want to call oncology because he already said I was fine when I was sent for the 10lbs weight loss, bruising, fatigue, and hypogammaglobulinemia.\n\nI have been trying for months to find an answer and I am so tired. I just can't keep running down all this stuff when they haven't found anything concrete. I really expected my endocrinologist to have an answer but everything there is fine. I'm eating as much as I can (and plenty of cookies and fries lol). How can I slow down my weight loss to at least make it a few more months to see my gynecologist?
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Reddit - AskDocs
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I have been dealing with a suspected autoimmune or hormonal condition for the past 3 years and have been to a myriad of doctors with no diagnosis or even suspicions. I am a 23 year old cis woman and weigh 190lbs at 5\u00928\u0094 (but for the record I was 170lbs when this started).\n\nThe main issue that I have is temperature regulation; I overheat super easily and sweat a ton everywhere (I\u0092ll be quite literally dripping sweat from the face, back, underarms, etc.). I have dealt with underarm hyperhidrosis since high school, but in spring 2021 I started to notice that I was constantly sweating all over my body from minimal or no exertion, including night sweats. Since I am very familiar with hyperhidrosis, I am confident that my symptoms are beyond that, especially considering the feeling of overheating, not just the sweat response.\n\nI also am nearly always tired, no matter how much sleep I do or don\u0092t get. I don't feel that I have any more energy in a day when I slept more the night before. I can sleep all day and still fall asleep that night, but I can also be sleep-deprived yet unable to fall asleep.... truly unpredictable.\n\nAdditionally, I almost certainly have IBS. I haven\u0092t officially been diagnosed but doctors have mentioned it when nothing else explains my GI symptoms. I have never had regular bowels, usually going a few days without one then having multiple in a day. I often fluctuate between diarrhea and constipation (even within the same week) and have never found a trigger for either.\n\nLots of medical details below - I\u0092m hoping for any direction for where to go next or any ideas about what could be going on. Please help me!! I'm at my wit's end!!!\n\nDiagnoses\n\nIBS (basically diagnosed)\n\nNasal septal perforation (1.5cm hole in the cartilage of the septum between the nasal cavities)\n\nHydradenitis suppurativa (mild, just occasional armpit nodules that don\u0092t breach the surface)\n\nGeneralized anxiety\n\nOCD\n\nADHD\n\nFamily history\n\nBreast cancer on both sides\n\nI am 100% Ashkenazi Jewish. Fortunately neither side has tested positive for the BRCA genes.\n\nThyroid issues\n\nOther various cancers on both sides, but no repetition \n\nMedications\n\nZoloft (Sertraline)\n\nAdderall\n\nPropranolol (as needed)\n\nDicyclomine \n\nBirth control (combination pill)\n\nTests\n\nCT Scan\n\nEchocardiogram\n\nANA Screen, IFA\n\nANCA\n\nAngiotensin-1-Converting Enzyme\n\nAntithyroglobulin Ab\n\nBasic & Comprehensive Metabolic Panels\n\nC-Reactive Protein\n\nC-Reactive Protein 8/22/22: 10 (high)\n\nC-Reactive Protein 12/12/22: 12 (high)\n\nC-Reactive Protein 5/11/23: 23 (high)\n\nCatecholamines, Ur., Free, 24 Hr\n\nCBC W/ Differential & Platelets\n\nAbs Lymphocytes 1/3/22: 4.1 (high)\n\nAbs Lymphocytes 5/20/22: 4.01 (high)\n\nAbs Lymphocytes 8/22/22: 4.33 (high)\n\nAbs Lymphocytes 10/13/22: 4.62 (high)\n\nAbs Lymphocytes 12/12/22: 3.56 (high)\n\nComprehensive Metabolic Panel\n\nESR, Westergren\n\nESR, Westergren 5/20/22: 2 (normal)\n\nESR, Westergren 8/22/22: 11 (normal)\n\nESR, Westergren 12/12/22: 21 (high)\n\nESR, Westergren 5/11/23: 15 (normal)\n\nCulture, Urine\n\nDHEA-Sulfate (DHEA-SO4)\n\nFerritin\n\nFlow Immunophenotyping\n\nFSH\n\nHIV Ab/Ag\n\nIGF-1 (Insulin-Like GF-1)\n\nImmunoglobulins, QN; IGA / IGG / IGM, Total\n\nImmunoglobulin A 12/12/22: 69 (low)\n\nImmunoglobulin G 12/12/22: 641(low)\n\nIgA 6/28/23: 72 (low)\n\nIgG 6/28/23: 510 (low)\n\nLipid Panel\n\nCholesterol 9/22/22: 229 (high)\n\nLDL Cholesterol, Calc 9/22/22: 131 (high)\n\nMetanephrines, Frac, Qn, 24-Hr\n\nProlactin\n\nTestosterone (total)\n\nTestosterone Free\n\nTryptase\n\nThyroid\n\nTSH 1/3/22: 5.92 (high)\n\nTSH 6/19/23: 5.63 (high)\n\nUA w/ Micro & Cult Rflx\n\nUrine Specific Gravity 5/11/23: 1.026 (high)\n\nUrine Creatinine, Random\n\nUrine Protein, Random\n\n17 Hydroxyprogesterone (17-OH-Progesterone)\n\nDoctors (besides PCP) that I\u0092ve seen\n\nRheumatologist\n\nImmunologist\n\nGastroenterologist\n\nEndocrinologist\n\nHematologist\n\nCardiologist\n\nGynecologist
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Reddit - AskDocs
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Hi everyone, Age: 23 Gender: Female Height: Approximately 5'3\" Weight: Around 60kgs ( 122 pounds) Medications: Levetiracetam (Epilive), 250 mg tablets (currently tapering) Smoking status: Non-smoker Previous and current medical issues: Seizures starting at age 14 Duration and location of complaint: Ongoing for 9 years whole body\n\nWhen I was 14, I had a seizure during sleep and started treatment with Levetiracetam and many other medicines of course. But after a while I had only Levetiracetam 500 mg two times a day. After 4 years, I attempted to stop the medication on doctor advice as I didn't had any seziure after the first one but began experiencing body jerks. So I got scared and changed my doctor he advised me to continue for 5 more years, warning that if seizures returned, I might need lifelong medication So after 9 whole years I dediced to stop the medicine.Earlier this year, under my doctor's guidance, I began tapering the dose. I reduced to 125 mg per day over 1.5 months, but as I approached the stopping point, I developed severe anxiety. My parents and doctor weren't much supportive in this condition they told me not to think and if I'm unable to do so then be on the medicine for life long, This will be sounding so stupid and dumb but I\u0092ve been dividing the last 250 mg tablet into smaller and smaller pieces out of fear.I've been on the same tablet for 10 days now, taking minute amounts each day. Recently, we I got home from college my mother saw the medication wrapper and, thinking I\u0092d stopped, asked me about it. I lied and said it was a supplement. Since then, I\u0092ve been extremely anxious and unable to sleep, experiencing body jerks that worsen my fears. I\u0092m unsure if these symptoms are due to anxiety or if I\u0092m at risk of having a seizure. I would really appreciate any advice or similar experiences. Is it possible that my symptoms are primarily anxiety-related, or should I be concerned about a potential seizure? Thank you!
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Reddit - AskDocs
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Hi everyone, I recently had an MRI, and the doctors discovered an intracranial lipoma. It's a benign collection of fat that developed during my embryonic growth. The report indicates that it's not a brain tumor and doesn’t have malignant characteristics, but it's still a bit unsettling to have something unusual in my head. Here are my details: Age and Sex: 24M Diagnoses: Intracranial lipoma Medications: None Non-prescribed Medicines/Vitamins/Substances: None Some specifics from my MRI report: The lipoma is hyperintense on T1- and T2-weighted images. It shows a loss of signal on fat-suppressed sequences, confirming it's fat. There’s no contrast enhancement, which aligns with benign features. I’m reaching out to see if anyone else here has experience with intracranial lipomas or knows someone who does. I have a few questions: What was your experience after the diagnosis? Did you have any symptoms, or was it an incidental finding? How often do you have follow-up MRIs? Have you ever had to undergo any treatment or surgery? Any shared experiences or advice would be greatly appreciated! It’s always comforting to hear from others who might be in the same situation.
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Reddit - AskDocs
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13-year-old female, height: 5’5”, current weight: 139 lbs (previously 123 lbs on June 17). Meds: Fluoxetine 40 mg for OCD, Potassium Citrate for kidneys. Diagnosed with Primary Hyperoxaluria Type II last December after an obstructing kidney stone that became septic. Has had intermittent lower abdominal pain her entire life, often attributed to constipation and treated with PEG. Pain, primarily in the bladder area, occurs almost every morning at a 5-6 pain level but worsens to vomiting at times. Pediatrician diagnosed constipation again, leading to a full cleanout with Pico Salax. PEG has been used for 7 months.
This past week, she had severe bladder pain progressing over 3 days, with screaming, vomiting, and lethargy. On the third day, facial and eye swelling appeared, prompting an ER visit (3 hours from the nearest pediatric hospital). Labs, blood, and urine were all normal, with no signs of blood or stone markers. CT showed only bilateral renal stones (6 mm and 5 mm in lower poles). Urology and nephrology ruled out their systems. Pediatric GI and rheumatology referrals were declined. Tests for thyroid, celiac, and inflammatory markers were normal. Doctors suggest functional pain, but given this week's episode, I strongly disagree.
We are in Canada. I can request a second opinion at another university hospital or seek care at the Rare Stones and Hyperoxaluria Clinic at Mayo (out-of-pocket). What are my options? What’s next? Who do I ask? I gave her 2 Benadryl after ER with no effect.
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Reddit - AskDocs
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Hi everyone, I’m just trying to get a clearer understanding of what my father (82 years old) is going through. I know it’s not possible for a proper diagnosis, but I just feel clueless about what is going on. He was relatively fine in December 2023, but his physical and mental abilities have declined rapidly in the past two months. He has severe headaches every day, is unable to speak coherently, and often does not recognize me or recall something said within minutes. He is unable to walk, move his limbs without assistance, and hardly eats anything. He seems to be in severe pain.
He underwent an MRI yesterday, and they discovered a tumor (about 6 cm x 8 cm) in his neck. There is also white matter in his brain, but the doctor was vague about the potential cause. I assume (Google) that, given his medical history and the size of the tumor, it is cancerous. Could the neck tumor cause the white matter? Could chemotherapy reduce the size of the tumor, or is surgery the only option? If the tumor is removed, could he regain his cognitive abilities?
[Image links: https://ibb.co/61tKDnJ, https://ibb.co/0hQ8tFg]
Medical history: Stage 3 colon cancer diagnosed in 1996 and underwent chemotherapy. Leukemia discovered about 15 years ago, did not undergo any treatment (my father is stubborn). Skin cancer twice removed from his face about four years ago. He underwent knee surgery (against another doctor’s advice) in April 2022, and his white blood cell count increased severely; he was in ICU for about a week but recovered and was relatively in good shape the following year.
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Reddit - AskDocs
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I am a 45 year old female. Height 5'7 Weight 135 Current medical issues- SLE lupus, Hashimoto's disease, rheumatoid arthritis and fibromyalgia Location of pain- pelvic area
I'm not sure if this is the right place to post this, but I'm at the end of my rope.
I'm a 45 f who had a vaginal hysterectomy in January 2013. They left my ovaries and fallopian tubes. In May 2013, I began having extreme pelvic pain. They did laparoscopic surgery and found out I had an ovarian torsion that had adhered to my bladder. After that, I was great. Fast forward to May of this year and I felt extreme pelvic pain. I went to the ER where an ultrasound and CT scan revealed my remaining fallopian tube was very enlarged and filled with fluid. I also now had a 5cm cyst on my remaining ovary along with cysts and growths throughout my pelvic cavity-on my vaginal cuff, bladder, just everywhere. I live in a small town and the OBGYN didn't feel he could remove it all safely. He recommended an oncologist. Due to my insurance, I had to go to my PCP who has sent me to 2 different oncologists in a larger city. They are booked for a simple intake appointment until the end of December.
I have been to the ER five times in the last two months. My last ER visit had my BP at 201/188 because of the pain. I got a lecture from my doctor that the ER isn't the place for me. I agree. He says my primary should be handling my pain which I agree. However the only thing that touches my pain in the ER is fentanyl or Dilaudid. My primary doesn't want me on hardcore pain killers that long and I don't want to either but I also don't want to be treated like a drug seeker at the ER. I also know the ER is not the place for me but where else do I go? Any advice would be so very helpful as I am quickly losing hope
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Reddit - AskDocs
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Hi all! I am having a very strange issue that so far 7 different specialists, allied health, and my GP are all stumped on. I’ll try to be as brief as possible—please ask any questions in the comments.
Medical history: 5’7”, ~50-55kg, mid-twenties, female. Ehlers-Danlos (unsure on specific type due to difficulties accessing gene testing), POTS (persistent low BP, high HR), Endometriosis, ADHD, Autism, Positive Speckled ANA (being looked into but Lupus is ruled out), High creatinine (kidney issues ruled out), Slightly raised bilirubin (10-20% out of range), Low WBC, Clear colonoscopy/endoscopy ~2 years ago.
Dec ‘23: Increasing fatigue, muscle twitches, SOB.
Jan ‘24: ER presentation with persistent LOC, SOB, tachypnea, low SpO2, normal ECG + PR, normal BP (unlike a POTS flare for me, which includes HR up to 270 and BP 80/60), cap refill of 10-30 seconds, clear lung sounds and X-ray, bloods clear except for high creatinine and phosphate of 0.26. Given two bags of phosphate + one bag of saline (as doctor mistakenly diagnosed a POTS flare) and discharged with phosphate of 1.68. Hospital dietitian ruled out dietary causes, specialist suggested RTA. Started dietary increase of phosphate (increased chicken from 1x/day to 2x/day, increased cheese from ½ kg to ½-1 kg/week, increased milk from 2L to 4L/week, increased chocolate/soft drinks, increased Milo to daily).
Jan ‘24: Seen in rapid access OPD clinic two weeks later with a phosphate of 0.68, symptoms slowly returning. 24-hour urine sample done (normal phosphate wastage), random urine samples normal. Started on phosphate phebra as dietary changes were not improving symptoms.
Feb-Apr ‘24: Full workup by two renal physicians. Cystatin C normal, KUB ultrasound normal, kidney/abdo CT + contrast normal, urine samples normal, ANCA negative, C3&C4 slightly high but not concerning. TSH + PTH normal. Creatinine still high but renal physicians are certain it’s not kidney-related. Suggested referral to endocrinology. Full blood panel run (chem, hormones, LFT, EUC, and more); nothing flagged except slightly low iron (explained by 3-month-long bleeding from endometriosis).
March ‘24: GP and I ran FGF-23 and a DEXA scan. FGF-23 normal, but DEXA showed osteopenia (severe for my age).
July ‘24: Endocrinology reluctantly accepted referral after multiple rejections (had to prove again that I don’t have an eating disorder). No appointment yet, likely for bone density rather than low phosphate.
July ‘24: Saw another rheumatologist, unsure on a further pathway except for gastroenterology (previously cleared by gastro, no new symptoms).
July ‘24: Saw another psychiatrist and dietitian who confirmed it’s not dietary/eating disorder related. Suggested referral to adult nutritional failure clinic (lifelong struggle to maintain weight, documented in pediatric records). Also suggested immunologist referral for high creatinine/+ speckled ANA to screen for myositis or a potential histamine disorder.
Now: My medical team is stumped. I’ve researched low phosphate causes for hours and found no clear answer. Gastro referral wait time is 1-4 years, nutritional failure clinic may be faster but uncertain. Most immunologists won’t see me, so wait time and cost will be high.
Phosphate phebra makes me extremely sick, so we monitor phosphate with weekly blood tests, keeping the dose as low as possible. My veins are struggling since phlebotomists only access AC veins. I can’t access IV phosphate due to cost and lack of a doctor with admitting rights. I’m exhausted from the bone pain, twitches, exhaustion, and SOB. I feel like everyone is grasping at straws. Any ideas at all would be greatly appreciated. Thank you so much if you made it this far.
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Reddit - AskDocs
| 14
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Background information: 15 y/o female, diagnosed with CRPS type 1, Hypermobile EDS, Gastritis, suspected recurrent cystitis, and nodulocystic acne. I am currently on Lymecycline (408mg), PRN Ibuprofen and Paracetamol to maximum daily dose (every day), Fluoxetine 30mg, Methylphenidate 45mg, Melatonin 4mg, Omeprazole 30mg, and take 1000mg vitamin C daily (agreed with my doctor after research on CRPS prevention post-surgery, but not prescribed).
I have a family history of leukemia (especially acute myeloid leukemia) and rheumatoid arthritis, both affecting almost exclusively AFAB people in my family. I have a personal history of B-12 anemia, leukopenia, and thrombocytopenia, likely related to pain and withdrawal from eating.
For a while, they suspected Lupus due to my symptoms, but my CBC was normal except for neutrophils, which were 6.26 (range 2-6). I had no infection at the time. My ESR and CRP were normal, and anti-dsDNA, ANCA, ANA, and other various tests (except rheumatoid factor) were negative. My rheumatologist said rheumatoid factor was meaningless since I don’t have arthritis.
Despite this, I’ve had a malar rash, inflammation in my face, arms, stomach, and eyes, as well as full-body inflammation witnessed by doctors. I experience on-and-off joint and muscle pain, sometimes feeling like my joints are "hollowed out." I have had inflammation in my muscles, sometimes with a sudden red rash over a joint, which was painful and severe.
I have numbness, tingling, a horrible 'floating' pain up and down my arms, legs, and spine (likely nerve pain), on-and-off low-grade fevers (typically every night), and sudden yellow bruises around my eyes that darkened and have remained since November 2023.
I experience ulcers and blisters in my mouth, fatigue, exhaustion, brain fog, headaches, deep bone pain, and full-body pain. My throat is sometimes inflamed with a red lump at the back, and my lymph nodes sometimes swell. These symptoms come in episodes and flares.
I had a raised rash on my stomach that started flat and burned when touched. It lasted about a week and recurred three times, leaving scars. My rheumatologist said she’d never seen anything like it. The bumps are grainy, paler than the surrounding skin, and don’t hurt to touch.
My urine has white flakes, is sometimes bubbly/frothy or cloudy, but my kidney function tests were fine (doctor said it should be 116, but it was 97; kidney disease isn’t diagnosed until it’s below 90). This has been ongoing since November 2023.
My rheumatologist wants me to track patterns and return in 4-5 months before making a diagnosis. I don’t want to live like this and just want answers so I can get help. What could this be? Thank you.
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Reddit - AskDocs
| 15
|
My husband (32 M 190 lbs 6’0 regular marijuana use before initial diagnosis, now he takes Tacrolimus, Acyclovir, Fluconozole, Citalopram, a blood pressure med, and antacid, and magnesium) was diagnosed with leukemia on December 18 2023. Bone marrow biopsy results showed a biphenotypic leukemia and a BCL11B gene mutation. He had allogenic stem cell transplant March 28 2024 with his brother’s cells, a 10/10 match.
After transplant was rocky, and he was admitted back into the hospital four times. He’s been home about a month now and it doing very well for the most part. The issue is that he has had pain in one ankle for the last few months that has gotten worse and worse. They gave him 2 X-rays before finally doing an mri, which happened two weeks later than it should have because the order wasn’t sent in and they just told us to wait to be called to make an appointment. He had his mri yesterday and the findings are pasted below. Is this incredibly worrisome? Could it be AVN? Tacrolimus pain usually happens bilaterally I’ve read, but he’s being stepped down on the tacro dose since he’s over his first 100 days since transplant and his doctor said he thought that might help.
IMPRESSION:
1. Nonspecific mass involving and eroding into the posterior calcaneus
and extending into the adjacent soft tissues as described above. Tissue
sampling recommended. Repeat ankle radiographs may be helpful to confirm
the extent of osseous erosion.
2. Mild flexor hallucis longus tendinosis and tenosynovitis.
3. Moderate tibiotalar effusion.
Narrative
MRI of the right ankle without contrast
Exam Date: 7/12/2024
History: Chronic ongoing right ankle and foot pain, not responsive to
local analgesics, negative x-rays, history of allogeneic bone marrow
transplant
Comparison Studies: 5/30/2024
TECHNIQUE: Multiplanar, multisequence MR imaging was performed without
Gadolinium contrast per the standard protocol on a 3 Tesla magnet.
FINDINGS:
There is a 4.1 x 4.3 x 3.6 cm (AP x TR x CC) somewhat lobulated mass
involving the superior aspect of the posterior calcaneus adjacent to the
posterior subtalar joint, and extending superiorly and posteriorly
toward the tibiotalar joint with posterior displacement of the
pre-Achilles fat pad. The mass has intermediate signal on T1 and T2
weighted images. The mass erodes the calcaneal cortex into the medullary
space (for example series 8 and 10 image 10 and series 9 image 29) with
adjacent patchy abnormal marrow signal within the calcaneus. Of note, no
osseous involvement was seen on prior radiographs from 5/30/2024. Mild
reactive retrocalcaneal bursitis.
More subtle, nonspecific patchy intermediate signal in the talar neck,
which does not appear to contact the described mass.
* Tendons: Flexor hallucis longus tendinosis with fluid in the tendon
sheath at the knot of Henry. Remaining flexor and extensor tendons
otherwise intact. Incidental note of peroneus quartus.
* Ligaments: At least partial thickness tear of ATFL. PTFL and
tibiofibular ligaments are intact. CFL not well seen, possibly displaced
by the described mass. Deltoid and spring ligaments intact.
* Joint: Moderate tibiotalar effusion.
* Articular Cartilage: No focal cartilage defect.
* Miscellaneous: Sinus tarsi edema. Subcutaneous edema surrounding the
ankle.
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Reddit - rarediseases
| 16
|
Our daughter has Lipoblastomatosis. We have been sent to numerous doctors who don't understand her disease and therefore don't feel comfortable treating her and won’t accept her as a patient. She is scheduled for surgery this month with a doctor we are not comfortable with. Her tumor is growing through her ribs, down her spine, and through her vertebrae. However, the surgeon admitted she doesn’t know much about this condition and believes we want the tumor removed for vanity reasons. As a parent, I am being torn apart. She needs the surgery based on the MRI, but the surgeon's attitude makes me want to cancel.
We have spent six years searching for a specialist in two states. She was even reviewed by the tumor board at Texas Children’s Hospital. The oncologist recommended surgery, but the surgeon refused, leaving them unable to form a treatment plan.
We desperately need a doctor, somewhere, who understands this condition and can help our child. This is not the same as a lipoma. Looking for recommendations for a specialist in any field who can provide proper treatment.
|
Reddit - rarediseases
| 17
|
Hey, all! I (29yo F) have recently been battling a rough road of medical challenges and new diagnoses. I’ve had some weird diagnoses throughout the years that no one ever seemed to have heard of (many doctors included), so I thought I’d throw this out there to see if anyone else has had experience with these overlapping or knows of a common thread my team of doctors and I are not seeing. Thanks in advance!
In high school I had several years in which I was treated for vertigo, but I never received a true diagnosis because I never truly fit the diagnostic criteria for one (in the words of my doctors).
Then I was diagnosed with Adíes Tonic Pupil Syndrome in late high school.
In college I was diagnosed with Exercise Induced Anaphylaxis.
Recently I’ve been diagnosed with nonceliac gluten sensitivity and autoimmune (microscopic) colitis. I also just found out I am vitamin d deficient and have battled two rounds of C Diff (currently battling, please send prayers 😩) and a round of Giardia in the last six months. (Also anxiety, depression and ptsd but who isn’t battling those…). I’m working with infectious disease and gi specialists now to learn how best to manage these and explore my issues from a 10,000 foot view. It seems there are some pieces we still haven’t been able to put together, so I welcome any feedback from others who have had similar experiences or any common threads from people not “in the thick of it” with me.
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Reddit - rarediseases
| 18
|
31F - perfectly healthy until last September. Symptoms started with swelling in one finger, transgressed to edema / soft tissue like swelling on my hands, swollen palms, knees, ankles that look like donuts, lumps of soft tissue around my feet, SEVERE nonstop mottling, etc. I was initially misdiagnosed with inflammatory arthritis / autoimmune disease and put on immunosuppressants for 6+ months. Reacted so horribly to biologics ended up in the ER twice. Bloodwork was always 100% normal, negative ANA and low inflammation markers etc. MRIs come out, show no signs of synovial fluid or joint inflammation. 5 rheumatologists later.. am told but I've known all along, I don't have an autoimmune disease.
MRIs do show abnormalities that make zero sense though - my ankle has chronic remodeling of my ligaments, mild inflammation of my peroneal tendons (where I have A LOT of pain), inflammation/thickening of my tendon sheath. Knees show early stages of cartilage damage and edema around my kneecaps. Skin biopsies are weird too - subtle fibrosis, increased vessel counts with some RBC leakage into my tissue, some inflammation of my WBC, mild mucin in dermis, and dilated blood vessels. Aligns well with what I see on my skin....broken capillaries, bruises everywhere on a daily basis, clusters of small blood spots. Vasculitis has been ruled out. Veinous Doppler was normal. Arterial Doppler shows severely diminished PVR waveforms in my feet and toes.
My BP is all over the place. Was increasing for months - would hit 160/110, then would drop to 70/40 for weeks (I'm normally ~90/70). In Feb I am hospitalized for four days from an "acute kidney infection". Goes away with a bunch of fluids, no one can explain the cause. Lots of abnormal UAs - nothing serious but consistently show protein, ketones, elevated WBC, RBC, crystals, etc. Creatine has been fine since Feb episode, though nephrologist ran adrenal testing which has been the only out of range blood work I've had in a year... very elevated aldosterone (~7x above normal levels) and absolutely normal (not low) Renin. He says I have "volume depletion" and prescribes me...salt pills. Not sure what this even means. Blood serum free norepinephrine was 3x elevated, but PET scan show no tumors. 24-hour creatine is low.
Hematology says no signs of blood clots, coagulation disorders, etc. - though their lymphocyte subset testing has been consistently out of whack. High CD8+ cells with abnormal markers (CD57+), somewhat low CD4/CD8, low-end of normal NK cells...though this deviates. I went to see ID - turns out I had untreated Lyme for a year, and caught Dengue fever (???) shortly after, right before I was put on a ton of immunosuppressants forever. Immunology has been useless when it's come to asking for more tests.... the markers I noticed were a few heme looked for in an otherwise normal flow cytometry. Found out last week I also have EBV reactivation...
Everything hurts. I can't even explain the pain - my skin throbs and burns, with weird intermittent rashes. My knees feel week and unstable, and get acutely painful after 15 min of walking. My swelling is unbearable everywhere. I can never sleep and hardly can eat.
I'm literally mottled 24/7 (absolutely not benign livedo, doesn't matter what the weather is, I am purple and blotchy). The only time it seems to sort of go away is the first 30 minutes after I get out of bed, then any movement triggers it again and I'm back to my mottled self all day. Edema is bad...knees and ankles get so bad I can't walk sometimes. I've seen every specialist I can think to see - some of the best doctors in the country. Literally no one can connect the dots. Thought Mayo was my only hope but they rejected me...noting I should see more specialists locally (I've literally seen over 30+). Got full genome sequencing done...but it's 3 months until I get the results. I have no idea what to do next. Creative minds of Reddit...please help. My doctors are too siloed in their specialties, and there is literally zero collaboration between them. I'm exhausted, hopeless, and drained. All I want is my life back.
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Reddit - rarediseases
| 19
|
Hello,
I'm very new to Reddit but I am hoping I might be able to talk to others like me. I'm a 34/ yo Female and I have Familial Mediterranean Fever, but i also have aa dozen other conditions such as celiac disease, POTS, syringomyelia, the list goes on. I also have a condition called Gilbert's syndrome which makes taking medications a bit of a nightmare but I still have to take lots of meds just to stay alive. I recently got approved to take Ilaris after a year of my insurance not allowing me to take anakinra. I'm colchicine resistant so I know I don't really have a choice but to take Ilaris. I also know it's a privilege to have access to it to begin with.
Still, I'm terrified because I've had so many scary and sometimes life threatening reactions to medications in the past, so naturally, I'm hesitant. Both my father and uncle ended up with FMF induced organ failure so I know what it looks like if it isn't treated. I'm freaked out both ways. Anyone on Ilaris, even if it isn't for FMF, I'd love to hear your experience too. Any support / experiences especially from folks with multiple diseases and FMF would be appreciated. I won't be taking it until after my cousin's wedding in October just to make sure I don't miss if I do have a complication so I have a little time to prepare myself. Thank you!
|
Reddit - rarediseases
| 20
|
Hello everyone! I'm a 63-year-old male seeking guidance. I was diagnosed with mitochondrial depletion syndrome by a Mayo Clinic researcher in 2021.
My case is extremely unique in that I have a depletion syndrome which manifests in myopathy similar, but not identical, to TK2. The catch is that I do not have any of the known clinical genes associated with TK2 or any condition that would predispose me to this rare condition.
There is no familial history looking back several generations of such a disease.
I have had:
Complete nuclear and mitochondrial genome sequencing
Two separate sequencings looking exclusively at mitochondrial pathologies, limb-girdle muscular dystrophies, and mitochondrial DNA depletion
Muscle biopsy (Mayo used this tissue to discover the depletion).
Unfortunately, the Mayo researcher, who was doing the work pro bono, has moved on and the current staff is not interested since no mutation was located.
My current neurologist, who works with the MDA, believes I could be the oldest living adult in the U.S. with this type of myopathic depletion syndrome. Despite this, I have not found any researchers or doctors curious in helping to try an uncover the 'why' even if it is for posterity's sake.
I'm seeking any ideas on finding specialists or resources that could help nail down a diagnosis and or treatment for my rare condition.
|
Reddit - cancer
| 21
|
30M I will tell my whole story and maybe somebody can help me or guide me to a specialist in the country who is acclimated and treats this. I apologize for the length method, but I want to make sure I’m thorough so people have the most amount of info.
8 weeks ago: I went to see a dermatologist (after my wife forced me LOL) for a general mole checkup and to check out two “cysts” - one on my left side of neck right below my jaw line and one on my side. The one on my neck was about the length of your index finger and was firm to touch, but the “mass” was movable. The dermatologist said we could remove if we wanted, but wasn’t necessary because he wasn’t concerned. I decided to go through with getting it removed for cosmetic reasons. I received the pathology report on Thursday with the following final diagnosis on the pathology report:
Infiltrating carcinoma, favor microcystic adnexal carcinoma, see Comment.
Comment There are tubular and microcystic infiltration of dermis including the deep dermis. The tubular and microcystic epithelium is composed of uniformly small cuboidal basal cells and central or luminal squamous cells with uniform non-hyperchromatic round to oval nuclei and exhibit numerous cysts and lumina predominantly infiltrating pattern. Infiltrating cords and ducts are within and surrounding sclerosis. Under immunohistochemistry these epithelial structures are CK7(+), CK19(+), EMA(weak+), CEA(-), and Ber-Ep4(-). A VVG elastin stain shows minimal depletion of elastic fibers in areas of fibrosis and associated with breakdown of elastic fibers throughout the periphery.
My dermatologist then referred me to the bigger University hospital to a ENT surgeon. I saw him today. He had suggested that we “wait to see if it reoccurred” and that there was no further action warranted. This is after my dermatologist failed to exercise margins in their procedure report and the pathologists had a difficult time finalizing the diagnosis according to him - several weeks late and after an apparent tumor board visit. Again, pay attention to the wording “favors” rather than something definitive. Fair enough, pathology is hard.
My ENT surgeon today after I told him I was not ok with the “wait around plan” told me that we could do a scar revision and wider excision to have a better evaluation of the margins assessment of the tumor. I obliged, but truthfully, at the time I had a lot going on in my head. The provider had written squamous cell carcinoma on the consent, but again, didn’t flag an issue to me until later on that night when I got home and was discussing my treatment plan with my wife.
I read the dictation that the provider left and he put the same thing in the chart: squamous cell carcinoma. I don’t recall ever hearing him say the diagnosis during the visit either. Could this be a mistake? I did message the provider on MyChart to ask for further clarification. After all, we are talking two separate cancers here with 2 separate treatments.
As a nurse by trade, I spend hours doing research into evidenced-based practice initiatives. I am no fool when it comes to looking for important information and with as much anxiety as this has caused me, I have been very diligent in my research. All of the evidenced-based practice suggests utilizing MOHs procedure for treatment. However, I even suggested that today and he was disinterested. This cancer is rare. Less than 700 cases worldwide since 1982. So, I do understand his confusion to a degree.
Even if he was correct with squamous cell carcinoma, the treatment isn’t even what evidenced-based practice suggests. I’m more sure if I need a new doctor or what I need, but I am open to any feedback or experience with this type of cancer. I am concerned that the pathology may not be correct - it’s a mess truthfully - even the dermatologist was surprised with how long it took to come back.
I am willing to fly anywhere in the continental US for a specialist.
Thank you so much in advance. I know we “can’t give medical advice on here”, so please don’t think that’s what I’m asking for. I have a wife and 2 kids under 5, I have to do whatever it takes. The more eyes on something, the better, but hopefully I’m not crazy lol
|
Reddit - cancer
| 22
|
Hey everyone,
My dad (55M) has stage 3 nasopharyngeal cancer (NPC) and just completed his first 3-week cycle of chemotherapy. His regimen included Cisplatin and Gemcitabine in week 1, followed by Gemcitabine alone with a WBC booster in week 2, and a rest in week 3.
He has a noticeable 7cm lymph node in his neck that protrudes and is visible. A few days after his first dose, we noticed it shrink down to half its size, and soften significantly, which we thought was a positive initial response. However, about two weeks later, the mass rapidly grew back to its original size and hardened again over the course of just 48 hours.
Our medical oncologist is concerned and wants to monitor him further, noting that this response is atypical. She mentioned that once the mass shrinks, it usually shouldn’t grow again during the first cycle. I haven’t been able to find any information on this effect online and wanted to see if anyone here has experienced anything similar during a chemo round.
In the worst case, the oncologist believes it could be the cancer developing resistance and growing rapidly again. In the best case, it might be inflammation caused by rapid cell death or some kind of fluid buildup.
Has anyone experienced resistance developing over their first chemo cycle? Any similar experiences or insights would be greatly appreciated as my family gathers information to help understand what our next steps should be.
Thanks in advance for your help!
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Reddit - cancer
| 23
|
Long story short, my 36yo wife was diagnosed stage 4 pdac with Mets to the peritoneum in February. She did 6 rounds of folfirinox and the last 3 she had were reduced dosage and delayed a week each due to platelet issues. She had a splenic embolization to correct her low platelets after her 6th cycle. Things looked stable(ish) during that time so we found a trial using folfirinox and focused ultrasound to increase the efficacy of the chemo and we are still looking into that
Our head oncologist and the dr running that trial is setting it up but will not be ready for a few more weeks. In the meantime time it was brought up to try immunotherapy, since things seemed stable, by my wife and our oncologist said it was a good idea. To try and give her body a break but was unsure of the outcome and was hesitant at first. Mind you my wife checks all aspects of criteria needed to qualify for keytruda or opdivo/yervoy. She has lynch syndrome, specifically msh2 and msh6 mutations, her tumor mutational burden is 11.1 and the cutoff is 10 (which we were told is extremely rare with PDAC) and she is MSI-High. To hit the trifecta with this seems unheard of to any dr we walked to, so we were hopeful but now I’m not so sure. We know it takes two months or so to see any response from the therapy.
She had her first keytruda infusion 3 weeks ago and last week we were at MDA and they took a scan that showed progression of her peritoneal carcinomatosis and the primary tumor seemed stable. Her ca19 level has been rising since her last chemo cycle too, we’re approaching the 2000 mark if it hasn’t already surpassed that, the lowest it was was 490. She just had her second keytruda infusion yesterday and all drs involved seemed concerned after only just 1 infusion about the progressions seen on ct imaging and some new back pain and abdomen pain that developed around the first infusion. We’re technically not done with folfirinox and I would have thought they would say we’d go back to it since it was working. But now they’re talking about changing to gem/abrax if keytruda doesn’t work and they’re mentioning clinical trials more often now.
Did we mess up by trying the immunotherapy and postponing some chemo treatments? I don’t want this one decision to be the reason my wife’s cancer gets out of control. We have two little girls under 4 and this has been the worst of the worst for all of us. I partially feel like I should’ve have pushed her more to stay on chemo but ultimately it’s her body and she wants to see the immunotherapy through till they can make a concrete claim on wether it works or not.
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Reddit - cancer
| 24
|
My 15 year old daughter has a very hard life. When she was born she had kidney issues which she was in and out of the hospital constantly for. It’s called hydronoprosis. 14 surgeries later she’s still battling it. Well when our daughter was just 8 years old she got a brain bleed and was diagnosed with brain cancer pilomyoxid astrocytoma she also lost complete vision in her left eye because the nerurosugen severed the optic nerve , she did chemotherapy for a year and half then went 3 years everything good being monitored every 3 months. Well January 2020, they noticed her tumor growing again so she once again did chemotherapy for a year and they stopped, her tumor wasn’t shrinking but wasn’t growing. Yet in 2022 she had a second brain bleed which doctors claim is almost impossible! She was flown to a hospital in memphis close to st Jude and they did surgery again removing 70% of the tumor and she began radiation therapy at St Jude’s. Well, she began to develop severe edema from the radiation which was a possible side effect. She could barely get around and doctors tried everything almost but nothing worked. Then comes the nightmare again July 2023 she developed influenza B after a visit to st Jude and was admitted into the hospital and put on a ventilator, then she had pneumonia on-top of that. So a month and one week she was on a ventilator while her body was shutting down but by some miracle and CCRT her body began to fight back and she was doing good. However there was many changes! She had ards, diabetes, neuropathy, hypothyroidism, damage to her lower lungs and right upper lung, liver damage, damage to both her kidneys now, plus pancreatitis frequently. She’s on oxygen constantly, takes almost 40 pills a day. Well during this sickness while she was in the hospital still, September of 2023 she was diagnosed with a pulmonary embolism. So we began blood thinners, because of these blood thinners and the previous two brain bleeds SHE HAD A THIRD BRAIN BLEED! She was once again sent to memphis but the neurosurgeon said there was nothing he could do because of her condition and that St Jude was her only option. So they sent her there and stated she didn’t qualify for chemotherapy and couldn’t do radiation again, mind you she was still learning how to walk again, feed herself, move her arms. So we only could pray and have hope. Well by some miracle yet again she over came this brain bleed it just stopped. So they transferred her to a rehab facility where she never really rehabbed because she kept getting pancreatitis. So fast forward to January 2024, we say enough is enough and bring her home to rehab at home with nurses and PALATIVE hospice. She began to get up and move around with a Walker, constantly on oxygen, all these meds now but finally stopped the blood thinners. Well now she’s getting constant respiratory infections and now having trouble swallowing so we have to thicken her fluids and crush her meds. We are to the point we don’t see any further light at the end of the tunnel, even doctors are saying she’s declining. So we are looking at end of life hospice soon. This whole thing is shocking! We always thought our warrior who fought for 15 years would make it or would pass away from cancer, but no, because of the stupid influenza B and pneumonia, this is what will kill our child. Will take our baby girl from us. Now mind you we have two other children younger than her, one is ten and understands and the other is seven with adhd and doesn’t truly understand. My question is simple……. What do I do? How do I do think? How do we process this? Do we keep fighting and pray for a miracle and face her being in pain and suffering for things that ultimately will prolong what will happen? Or do we go ahead and just let her spend the rest of the time at home and be comfortable with her family? we have always been honest with her about her health and she wants to keep fighting but she doesn’t understand that it will truly do no good. Any advice is more than welcomed at this point.
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Reddit - cancer
| 25
|
I'm a 36F with hepatocellular carcinoma (HCC, liver cancer). I'm not an alcoholic, don't have hepatitis, or anything that would typically cause hcc. I was on immunotherapy for a few months, that didn't work. I did 4 rounds of FOLFOX, that didn't work. I just had an MRI and the notes said "liver is nearly completely covered in tumors". I'm so upset. How could this happen. Why are the treatments not working for me. I'm putting together my will today, not something I expected to do at 36. And to top it off my blood work is mostly normal. My liver is functioning, but how if it's covered in tumors. I'm not sure why I'm posting this here. I think I just need to get it off my chest. I've told my family and friends but didn't want to talk to them about it. I'm just so scared my oncologist is going to tell me I don't have much time left.
Edit to add my cancer was found by the NIPT test to look for chromosome abnormalities in my unborn baby. Once I was diagnosed we had to terminate my pregnancy to start treatment. I never asked what stage, I just knew it was bad. They've used the word "advanced" when talking to me about it though. It hasn't spread so that's the only positive thing. Liver transplant isn't an option for me because of how many tumors and the size of them. I have many very large lesions. Just one is around 15cm. Others are around 5-6cm. Then a lot of smaller ones. I had my biopsy done elsewhere and Dana Farber is having a hard time even getting the slide to do their own pathology. My new oncologist was appalled they didn't have it yet so he was doing everything he can to get the slides ASAP to have someone there look at it. I've never heard of that type of cancer but I'm definitely going to ask about it at my appointment. My cancer has grown rapidly in the last 6 months but I was pregnant for 24 weeks which made it grow even faster. No, I'm not part of colontown. My oncologist actually just called me and they're changing my chemo to something more aggressive. I already forgot the name of it and didn't write it down but I'm meeting with him tomorrow and I'll start the new treatment then. We're going to combine chemo and immunotherapy too to hit it with everything we can. I have HCC, liver cancer. It's just in my liver as of Friday. Thanks for your kind words and advice
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Description
Online Patient Cases is a dataset used to evaluate clinical trial matching systems such as TrialGPT and traditional keyword search methods. Each patient case in the dataset is sourced from two main platforms: PubMed and Reddit communities (r/AskDocs, r/rarediseases, and r/cancer). No edits were made to the online patient cases after retrieval. The dataset contains a total of 50 online patient cases.
Disclaimer
This tool shows the results of research conducted in the Divison of Intramural Research, NCBI/NLM. The information produced on this website is not intended for direct diagnostic use or medical decision-making without review and oversight by a clinical professional. Individuals should not change their health behavior solely on the basis of information produced on this website. NIH does not independently verify the validity or utility of the information produced by this tool. If you have questions about the information produced on this website, please see a health care professional. More information about NCBI's disclaimer policy is available.
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