id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
hae:6509770 | Allergic urticaria and hereditary angioedema. Independent association in the same patient. | [
"A patient presented with both allergic urticaria and hereditary angioedema. The two conditions occurred independently, the urticaria being associated with allergy to food (which could be managed by control of the diet), whereas the angioedema was associated with C1 esterase inhibitor deficiency."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient presented with both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n allergic urticaria\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"allergic urticaria",
"hereditary angioedema",
"urticaria",
"angioedema"
] | null | [
"allergy to food"
] | [
"control of the diet)"
] | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:6738938 | Hereditary angioedema and pregnancy. | [
"Hereditary angioedema is a relatively uncommon disease that may affect women during their reproductive years. A case report of a pregnancy complicated by hereditary angioedema, followed by a review of the literature, is presented. Although the disease usually follows a benign course, maternal mortality has been no... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"pregnancy",
"hereditary angioedema",
"pregnancy",
"pregnancy"
] | null | [
"maternal mortality"
] | null | null | null | null |
hae:6721125 | [Anesthesia in a patient with hereditary angioedema]. | [
"One of the most serious manifestations of hereditary angioneurotic edema is the occurrence of an acute airway obstruction due to laryngeal edema. The anesthetic technique of choice is a conduction rather than an intubation anesthesia. In the treatment of an acute attack steroids and antihistamines are commonly ine... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One of the most serious manifestations of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic edema\n <span style=\"font-size: 0.8em;... | [
"hereditary angioneurotic edema"
] | null | [
"acute airway obstruction due to laryngeal edema"
] | [
"conduction rather than an intubation anesthesia",
"prophylactic and therapeutic measures involving the infusion of fresh-frozen plasma and treatment with Danazol"
] | null | null | [
"steroids and antihistamines are commonly ineffective"
] |
hae:6702887 | Hereditary angioedema and coronary arteritis. | [
"A 30-year-old white male with hereditary angioedema developed substernal chest pain with multiple arterial stenoses at coronary angiography. Histopathologic studies of the fibromembranous thickening removed from the left coronary artery at the time of the revascularization procedure revealed an inflammatory lesion... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 30-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angioedema",
"immunologically-mediated disorders",
"hereditary angioedema"
] | null | [
"substernal chest pain",
"multiple arterial stenoses"
] | [
"revascularization procedure"
] | [
"white"
] | null | null |
hae:6618882 | [Hereditary angioneurotic edema. Clinical syndrome and therapy]. | [
"Hereditary angioneurotic edema is transmitted as an autosomal dominant disease. It is characterized by a deficiency of the C1 esterase inhibitor. Clinical manifestations are periodic swelling of the extremities, face, upper airways and abdominal viscera. We described one patient to demonstrate the clinical feature... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Hereditary angioneurotic edema"
] | [
"transmitted as an autosomal dominant disease"
] | [
"periodic swelling of the extremities, face, upper airways and abdominal viscera"
] | [
"Danazol therapy"
] | null | [
"deficiency of the C1 esterase inhibitor"
] | null |
hae:6879139 | [Hereditary angioedema. A clinical and immunologic contribution based on our 8 clinical cases under long-term treatment with androgens]. | [
"The literature on hereditary angioedema is reviewed and the case histories of 5 women and 3 men are reported. Special importance is attached to the results of therapy over 222 months of treatment with danazol and 40 months with stanozolol. The effects of androgen therapy on complement factor C4 and on C1-inhibitor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The literature on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"hereditary angioedema"
] | null | null | [
"therapy over 222 months of treatment with danazol and 40 months with stanozolol",
"androgen therapy"
] | null | [
"complement factor C4 and on C1-inhibitor"
] | null |
hae:6602623 | A study of familial lupus erythematosus-like disease and hereditary angio-oedema treated with danazol. | [
"Immunological and genetic studies were performed in a family in which the mother and five siblings had hereditary angio-oedema (HAE). LE cells, antinuclear factors, antibodies to double-stranded DNA and positive direct Coombs' test were not found in any of the subjects. One female sibling had a lupus erythematosus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Immunological and genetic studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | null | null | [
"skin lesions of the face",
"Laboratory evidence of HAE"
] | [
"danazol treatment"
] | null | [
"LE cells",
"antinuclear factors",
"antibodies to double-stranded DNA"
] | [
"positive direct Coombs' test were not found in any of the subjects"
] |
hae:6134220 | Management of the airway in patients with angioedema. | [
"Angiodema can be frequently encountered in clinical practice, and usually represents transient areas of tissue edema and erythema. In general, lesions involve the deep dermis as well as subcutaneous or submucosal sites and can affect multiple organ systems, including the respiratory and gastrointestinal tracts. Al... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiodema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Angiodema",
"angioedema",
"angioedema",
"hereditary angioedema",
"and Infectious Disease",
"hereditary angioedema",
"angioedema"
] | [
"atopy"
] | [
"transient areas of tissue edema and erythema",
"lesions involve the deep dermis as well as subcutaneous or submucosal sites",
"affect multiple organ systems, including the respiratory and gastrointestinal tracts",
"specific antigen sensitivities",
"inflammatory changes",
"physical and allergic causes",
... | [
"epinephrine, antihistamines and/or steroids",
"Management of the airway",
"hospitalization for supervised care",
"infusions of epsilonaminocaproic acid as well as nembulized racemic epinephrine to our therapeutic regimen",
"endotracheal intubation",
"tracheostomy for securing a temporary airway",
"plac... | null | [
"the complement cascade"
] | [
"not often respond well to these agents"
] |
hae:6613563 | [Hereditary angioedema. A hereditary disorder in the synthesis of the complement system]. | [
"Hereditary angioedema is characterized by recurrent attacks of painless, non itching edema of the face and limbs and sometimes by abdominal symptoms. It is due to a deficiency of functional inhibitor of the first component of complement (C1 Inh). We present a case where a normal antigenic level of C1 Inh was found... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema"
] | null | [
"recurrent attacks of painless, non itching edema of the face and limbs",
"abdominal symptoms"
] | null | null | [
"deficiency of functional inhibitor of the first component of complement (C1 Inh)"
] | [
"normal antigenic level of C1 Inh was found",
"no functional activity was present"
] |
hae:7146879 | Angioneurotic oedema in the elderly. | [
"A patient presented at the age of 72 years with a life long history of at least 60 years of abdominal crises described by the patient as 'bilious vomiting or migraine'. However, a careful clinical and family history suggested a diagnosis of hereditary angioneurotic oedema and this was confirmed by complement studi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient presented at the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n age of 72 years\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"hereditary angioneurotic oedema"
] | null | [
"life long history of at least 60 years",
"abdominal crises",
"bilious vomiting or migraine'",
"abolishing her attacks"
] | [
"Treatment with oral ethinyltestosterone (Danazol)",
"initially at a dose of 600 mg. per day and laterally at the low dose of 200 mg per day."
] | null | null | null |
hae:6122699 | Hereditary angioneurotic edema: clinical management and case report. | [
"Hereditary angioneurotic edema, although a rare clinical entity, can be fatal if diagnosis and appropriate therapy are not instituted before the performance of routine dental and oral surgical procedures. The pathophysiology, physical findings, and therapeutic treatment modalities have been reviewed, and a case in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Hereditary angioneurotic edema"
] | null | null | [
"routine dental and oral surgical procedures",
"involving both restorative and surgical dental intervention"
] | null | null | null |
hae:7073969 | C1 inhibitor deficiency simulating systemic lupus erythematosus. | [
"A 48-year-old Japanese woman with systemic lupus erythematosus-like lesions of the skin and lips was found to have hereditary angio-oedema. Complement studies revealed low CH50, C1q, C4 and C1 inhibitor levels, with normal C3 and C5 levels. Dramatic clinical improvement followed fresh normal human blood transfusio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 48-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"systemic lupus erythematosus-like lesions of the skin and lips",
"hereditary angio-oedema",
"Dramatic clinical improvement"
] | [
"fresh normal human blood transfusion",
"systemic betamethasone administration"
] | [
"Japanese"
] | [
"low CH50, C1q, C4 and C1 inhibitor levels",
"normal C3 and C5 levels",
"deficient complement component levels were unchanged"
] | null |
hae:7062481 | Familial angioedema associated with C1 esterase-inhibitor deficiency. A new genetic variant in hereditary angioedema? | [
"In the absence of a positive family history for hereditary angioedema (HAE), both siblings in a family were found to have clinical and laboratory findings similar to those in HAE. Both siblings became symptom free after receiving danazol treatment, accompanied by a subnormal rise in C1 esterase inhibitor and C4 le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n absence of a positive family history for hereditary angioedema (HAE)\n <span style=\"font-size: 0.8... | [
"familial angioedema"
] | [
"other HLA loci",
"inherited as a recessive disorder",
"spontaneous genetic mutation"
] | null | [
"danazol treatment"
] | null | [
"subnormal rise in C1 esterase inhibitor and C4 levels"
] | [
"absence of a positive family history for hereditary angioedema (HAE)",
"became symptom free"
] |
hae:7171202 | [Acquired angioneurotic edema caused by acquired deficiency of C1 esterase inhibitor disclosing lymphoproliferative syndrome. Apropos of a case, review of the literature]. | [
"One case of acquired angio-neurotic oedema is described and discussed with the other cases recorded in literature since Caldwell's one in 1972. This entity is characterized by: --the late onset of angio-oedema but its presence only in about half cases, --a complement deficiency resulting from the lack of C1-estera... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired angio-neurotic oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"acquired angio-neurotic oedema",
"lympho-proliferative diseases",
"hereditary angio-neurotic oedema"
] | null | [
"late onset of angio-oedema"
] | [
"either etiologic treatment of the associated disease or to the symptomatic effect of drugs"
] | null | [
"complement deficiency",
"lack of C1-esterase inhibitor"
] | null |
hae:7302723 | Clinical presentation and diagnosis of hereditary angio-oedema in five families. | [
"The clinical features of 16 patients with deficiency of C1 esterase inhibitor are described. Severity ranged from no symptoms in 2 young subjects to repeated and severe abdominal pain and angio-oedema. Diagnostic techniques are described and the ease with which the diagnosis can be established is emphasized. A fun... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical features of 16 patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n deficiency of C1 esterase inhibitor\n <span style=\"font-size: 0... | null | null | [
"no symptoms",
"repeated and severe abdominal pain",
"angio-oedema"
] | [
"treatment with tranexamic acid",
"androgens"
] | null | [
"deficiency of C1 esterase inhibitor",
"ineffective inhibitor"
] | null |
hae:6976242 | Purification and characterization of two functionally distinct forms of C1 inhibitor from a patient with angioedema. | [
"A minority of patients with hereditary angioedema (HAE) have normal concentrations of a dysfunctional C1 inhibitor protein (C1INH) in their plasmas. We purified C1INH from the plasmas of one such patient before and during treatment with the anabolic steroid stanozolol. Both the pretreatment plasma and plasma obtai... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A minority of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"hereditary angioedema (HAE)",
"HAE"
] | [
"defect at the structural locus for one C1INH gene",
"dysfunctional C1INH gene and the normal C1INH gene products are present in the plasma"
] | null | [
"treatment with the anabolic steroid stanozolol",
"stanozolol treatment",
"Stanozolol treatment",
"Treatment with stanozolol"
] | null | [
"purified C1INH from the plasmas",
"varying amounts of two extremely similar C1INH proteins",
"pretreatment plasma contained primarily (94%) dysfunctional C1INH that did not inactivate or complex with either purified C1s, activated Hageman factor, or kallikrein",
"small amounts (6%) of functionally normal C1I... | [
"normal concentrations of a dysfunctional C1 inhibitor protein (C1INH) in their plasmas",
"C1INH"
] |
hae:7257742 | Ophthalmological examination of patients in long-term treatment with tranexamic acid. | [
"Fourteen patients with hereditary angioneurotic oedema (Quincke' oedema) treated for an average period of 6 years (ranging from 15 months to 8 years) with tranexamic acid was given an ophthalmological examination in order to reveal any possible toxic damages caused by the treatment. As large doses of tranexamic ac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Fourteen patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic oedema (Quincke' oedema\n <span style=\"font-size: 0.8em; ... | [
"hereditary angioneurotic oedema (Quincke' oedema"
] | null | [
"toxic damages",
"retinal degeneration"
] | [
"treated for an average period of 6 years (ranging from 15 months to 8 years) with tranexamic acid",
"large doses of tranexamic acid"
] | null | null | [
"no toxic effects in the eyes of any of the patients",
"No retinal damages were found that could have been caused by the tranexamic acid",
"The central corneal thickness was normal"
] |
hae:7464402 | Hereditary angioedema: association with IgA deficiency and otolaryngologic disorders. | [
"Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by recurrent edema of the oropharynx, the extremities, and by abdominal pain. This disorder is caused by a defect in the C1 esterase inhibitor (C1 INH) which inhibits the first component of complement (C1). Four generations of a family are... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE",
"acute episodes of HAE"
] | [
"autosomal dominant disorder"
] | [
"recurrent edema of the oropharynx, the extremities",
"abdominal pain",
"acute laryngeal edema"
] | [
"general otolaryngologic procedures",
"tracheotomy",
"life saving measure",
"long utilization of danazol, an attenuated androgen",
"partially purified C1 INH"
] | null | [
"defect in the C1 esterase inhibitor (C1 INH) which inhibits the first component of complement (C1)",
"deficiency of IgA"
] | null |
hae:7212763 | Successful use of danazol for hereditary angio-oedema. | [
"A 10-year-old boy with severe hereditary angio-oedema was given danazol, 200 mg each day. There was a pronounced reduction in the frequency and severity of oedema."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 10-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"severe hereditary angio-oedema",
"pronounced reduction in the frequency and severity of oedema"
] | [
"danazol, 200 mg each day"
] | null | null | null |
hae:7425772 | Hypertension: a complication of danazol therapy. | [
"Danazol is a semisynthetic androgen that is used in the treatment of endometriosis and hereditary angioedema. Although fluid retention and weight gain are well-known complictaions of danazol therapy, to our knowledge hypertension has not been previously documented with the use of this drug. We have studied a patie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Danazol\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"endometriosis",
"hereditary angioedema",
"hypertension",
"hereditary angioedema",
"drug-induced hypertension"
] | null | [
"fluid retention",
"weight gain",
"reproducible hypertension",
"hypertension",
"volume dependent",
"hypertension"
] | [
"Danazol",
"semisynthetic androgen",
"danazol therapy",
"danazol therapy",
"administration of a small dose of a diuretic",
"danazol"
] | null | null | [
"failed to respond to propranolol hydrochloride"
] |
hae:7430813 | Hereditary angioneurotic oedema. | [
"HAE is transmitted by an autosomal dominant gene. It is due to a defect in the complement system and should be distinguished from the other two types of angio-oedema, i.e. allergic and idiopathic types. Pathogenesis and treatment are discussed and two new cases of HAE have been reported here. I would stress here t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HAE\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-a... | [
"HAE",
"angio-oedema",
"idiopathic types",
"HAE",
"haemophilic"
] | [
"transmitted by an autosomal dominant gene"
] | null | [
"emergency treatment"
] | null | [
"defect in the complement system"
] | null |
hae:6993801 | [Hereditary angioneurotic edema: study of serum complement and therapeutic trial with tranexamic acid (author's transl)]. | [
"Three familial generations (five members with hereditary angioneurotic edema) have been evaluated under clinical and immunological standpoints. A therapeutic trial with tranexamic acid was carried out. The five members with hereditary angioneurotic edema showed: decreased values of total hemolytic activity (CH50),... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n familial generations (five members with hereditary angioneurotic edema\n <span style=\"font-size: 0.... | null | null | [
"hereditary angioneurotic edema",
"angioneurotic edema",
"slighter adverse reactions"
] | [
"therapeutic trial with tranexamic acid",
"Therapeutic trial with tranexamic acid"
] | null | [
"decreased values of total hemolytic activity (CH50)",
"deficit of C4 (between 8 and 23 percent of the normal value)",
"normal levels of C3 and C9",
"decreased",
"diminished values of CH50, C4, C-1-INH and C3PA",
"low plasma values of C1-IHN"
] | [
"C3PA was normal",
"Asymptomatic familial members",
"normal serum complement levels"
] |
hae:7359956 | Bladder involvement in hereditary angioedema. | [
"We report on a patient with bladder involvement in hereditary angioedema. The patient had documented hereditary angioedema with episodes involving the skin and gastrointestinal tract. He presented with gross hematuria at age 36 and had also had gross hematuria at ages 16 and 20. Cytoscopic examination revealed rai... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bladder involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"hereditary angioedema",
"hereditary angioedema with episodes involving the skin and gastrointestinal tract"
] | null | [
"bladder involvement",
"gross hematuria",
"gross hematuria",
"raised hemorrhagic lesions in the vesical walls",
"normal mucosa with submucosal edema",
"The lesions",
"angioedema"
] | null | null | null | null |
hae:7389964 | [Hereditary angio-oedema: complement levels under treatment with danazol (author's transl)]. | [
"A mother and her son are described who both suffer from hereditary angiooedema. Both were treated with Danazol, a synthetic derivative of ethisterone. The prophylactic clinical effect seemed obvious, and also the serum concentration of the complement component C4, which had regularly been lower before treatment, b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mother\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"hereditary angiooedema"
] | null | [
"prophylactic clinical effect"
] | [
"Danazol, a synthetic derivative of ethisterone"
] | null | [
"serum concentration of the complement component C4, which had regularly been lower before treatment",
", became normal"
] | [
"no change of the serum concentration of the C1 esterase inhibitor could be demonstrated"
] |
hae:7352788 | Plasmapheresis in hereditary angioneurotic edema and systemic lupus erythematosus. | [
"A patient had hereditary angioneurotic edema coincident with systemic lupus erythematosus. This condition resulted in loss of hair, arthralgia, leukoplakia, collitis, and a nephrotic syndrome due to proliferative glomerulonephritis. The renal lesion was resistant to treatment with high-dose prednisolone and cyclop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"systemic lupus erythematosus",
"nephrotic syndrome",
"proliferative glomerulonephritis"
] | null | [
"hereditary angioneurotic edema",
"loss of hair",
"arthralgia",
"leukoplakia",
"collitis",
"renal lesion",
"sustained remission"
] | [
"plasmapheresis"
] | null | null | [
"was resistant to treatment with high-dose prednisolone and cyclophosphamide"
] |
hae:6965489 | Hereditary angioneurotic edema: immunochemical 'activity' without clinical expression. | [
"An 11-year-old white female with focal glomerulonephritis was found to have an absence of functional C1 esterase inhibitor. C1 esterase inhibitor measured by immunochemical means, however, was only slightly reduced. After an initial time period marked by variable hypocomplementemia, presumably due to immune comple... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 11-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"focal glomerulonephritis",
"HANE"
] | null | [
"immunochemical signs of active and severe hereditary angioneurotic edema (HANE)",
"symptomatic attacks"
] | null | [
"white"
] | [
"absence of functional C1 esterase inhibitor",
"C1 esterase inhibitor measured by immunochemical means",
"was only slightly reduced",
"variable hypocomplementemia",
"free C1 esterase activity has been persistently present in this patient's serum",
"serum levels of functional C1 esterase inhibitor, C2 and ... | [
"Clinical signs of HANE",
"have never developed",
"no clinical abnormalities",
"without clinical expression of that serologic activity"
] |
hae:6899952 | Acquired angioedema and hypocompleentemia in a patient with myelofibrosis. Effect of danazol treatment. | [
"This paper reports the findings of an \"acquired\" hereditary angioedema-like syndrome in a patient with myelofibrosis. No previous personal or family history of angioedema was present. The serum complement pattern showed a marked reduction of Cl esterase inhibitor, Clq and C4. All family members had a normal comp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper reports the findings of an "\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired" hereditary angioedema-like syndrome\n <span sty... | [
"acquired\" hereditary angioedema-like syndrome",
"myelofibrosis"
] | null | [
"frequent attacks of laryngeal angioedema",
"striking clinical response"
] | [
"prophylactic treatment with danazol"
] | null | [
"serum complement pattern",
"marked reduction of Cl esterase inhibitor, Clq and C4",
"normalizing effect on the underlying biochemical abnormality"
] | [
"No previous personal or family history of angioedema was present",
"All family members had a normal complement profile"
] |
hae:294325 | Hereditary angioedema: lack of close linkage with markers on chromosome 6, with data on other markers. | [
"Members of two Australian families with type A Hereditary Angioedema (HAE), having affected individuals in three generations, were typed for a large number of genetic marker systems in a search for close linkage with the locus controlling C1 inhibitor (C1 inh). The evidence from both families indicated lack of clo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Members of two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Australian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"type A Hereditary Angioedema (HAE)",
"type A and B HAE"
] | [
"C1 inh locus and loci controlling common protein polymorphisms"
] | null | null | [
"Australian"
] | [
"controlling C1 inhibitor (C1 inh)"
] | [
"lack of close linkage with HLA or with the loci for Bf and GLO on chromosome 6",
"Very close linkage was also excluded between the locus for C1 inh and the loci for 6PGD, PGM1 and MNSs",
"markers were not informative"
] |
hae:291712 | Hereditary angioneurotic edema: report of case. | [
"A case report in which the management of a patient with hereditary angioneurotic edema requiring oral surgery is presented. A review of the literature with emphasis on the clinical features, etiology, diagnosis, and treatment is also presented."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case report in which the management of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic edema\n <span style=\"fon... | [
"hereditary angioneurotic edema"
] | null | null | [
"oral surgery"
] | null | null | null |
hae:518825 | Reticulate erythema--a prodrome in hereditary angio-oedema. | [
"A previously undescribed short-lived non-puritic reticulate erythema has been noted in several members of unrelated families with hereditary angio-oedema. The eruption which may be widespread can last from 1 to 4 days and usually immediately precedes an overt attack of hereditary angio-oedema although this is not ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A previously undescribed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n short-lived non-puritic reticulate erythema\n <span style=\"font-size: 0.8em; fon... | null | null | [
"short-lived non-puritic reticulate erythema",
"eruption which may be widespread",
"4 days",
"overt attack of hereditary angio-oedema",
"swellings may occur in areas not previously involved by the erythema"
] | null | null | null | [
"no specific changes"
] |
hae:290943 | Hereditary angioedema controlled with danazol. Report of a case. | [
"Hereditary angioedema is a condition which should be approached with caution and concern for the patient. The fact that the disease can be fatal cannot be overemphasized. The routine medical history should include questions aimed at identifying these patients. If the angioedema patient is to be treated, provisions... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Hereditary angioedema",
"angioedema",
"hereditary angioedema"
] | null | [
"decrease in the various side effects which have been associated with"
] | [
"maintenance of an adequate airway",
"intubation",
"tracheostomy",
"Close observation following extubation",
"danazol, a synthetic androgen"
] | null | null | null |
hae:477537 | [Danazol treatment of hereditary angioneurotic oedema (author's transl)]. | [
"Danazol, an attenuated androgen, was administered to four patients with hereditary angioneurotic oedema, with rapid and complete response without side-effects. The follow-up period has now been up to 17 months. In all patients there was an indirect indication that their hormonal state influenced the course of the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Danazol, an attenuated androgen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"hereditary angioneurotic oedema"
] | null | null | [
"Danazol, an attenuated androgen"
] | null | null | [
"without side-effects"
] |
hae:449665 | Acquired C1 esterase inhibitor deficiency and angioedema: a review. | [
"A case of acquired C1INH deficiency with angioedema is described. Fifteen cases are thus far recorded. The clinical syndrome of angioedema in these patients closely resembles hereditary angioedema (HAE). Most cases are associated with a paraprotein, cryoglobulin, or autoantibody, which presumably initiates C1 acti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired C1INH deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"angioedema",
"hereditary angioedema (HAE)",
"HAE",
"lymphoproliferative or autoimmune disease"
] | null | [
"angioedema"
] | [
"androgen therapy"
] | null | [
"acquired C1INH deficiency",
"paraprotein, cryoglobulin",
"autoantibody",
"C1 activation and C1 Inhibitor consumption",
"C1INH, C4 and C2 levels are low",
"acquired C1INH deficiency",
"C1 titers are very low in the acquired disease"
] | [
"only minimally depressed, if at all, in HAE"
] |
hae:433971 | Prophylaxis of attacks of hereditary angioedema. | [
"Danazol, an attentuated androgen, has been suggested as an effective agent for the prophylaxis of attacks of hereditary angioedema. Four patients, with a clinical history of hereditary angioedema and a demonstrated depression of the serum inhibitor of the first component of complement (C1 INH) and the fourth compo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Danazol, an attentuated androgen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"attacks of hereditary angioedema",
"hereditary angioedema",
"hereditary angioedema"
] | null | [
"anticipated menstrual irregularities"
] | [
"Danazol, an attentuated androgen",
"60 patient months of Danazol therapy",
"100 to 400 mg/day",
"Danazol"
] | null | [
"demonstrated depression of the serum inhibitor of the first component of complement (C1 INH) and the fourth component of complement (C4)",
"increasing the level of serum C1 INH which reached the normal range"
] | null |
hae:443516 | Hereditary angioneurotic oedema. | [
"Hereditary angioedema (HAE) is characterised by episodic swelling of the extremities, face, larynx and recurrent abdominal pain, which can mimic the acute abdomen. Trauma of the larynx may result in acute airway obstruction. The management of emergency anaesthesia for Caesarean section of a patient with documented... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"HAE"
] | null | [
"episodic swelling of the extremities, face, larynx",
"recurrent abdominal pain",
"acute abdomen",
"Trauma of the larynx",
"acute airway obstruction"
] | [
"emergency anaesthesia for Caesarean section",
"use of fresh frozen plasma"
] | null | null | null |
hae:427020 | Hereditary angio-oedema: treatment with danazol. Report of a case. | [
"An 8-year-old boy with hereditary angio-oedema was treated with danazol under close endocrinological supervision. The boy's C1 esterase inhibitor (C1inh) and C4 levels increased rapidly to near normal values under a daily dose of 400 mg and were maintained at about 50% of the normal by maintenance doses of 200 mg ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hereditary angio-oedema",
"HAE"
] | null | null | [
"danazol",
"daily dose of 400 mg and were maintained at about 50% of the normal",
"maintenance doses of 200 mg danazol every other day",
"entire treatment period (11 months",
"danazol"
] | null | [
"C1 esterase inhibitor (C1inh) and C4 levels increased rapidly to near normal values"
] | [
"free from attacks of angio-oedema",
"No hormonal imbalance",
"was detected"
] |
hae:280667 | Management of a patient with hereditary angioneurotic edema. | [
"Patients with a history of hereditary angioneurotic edema can adequate and safely have nonelective surgical procedures performed with proper preoperative and postoperative management. Deficient amounts of C1 esterase inhibitor can be replaced with fresh frozen plasma; capillary permeability and spreading edema can... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with a history of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: b... | [
"hereditary angioneurotic edema"
] | null | [
"spreading edema",
"edema has occurred peripherally",
"epiglottic and laryngeal edema",
"edema subsides",
"Edema that involves the airway"
] | [
"nonelective surgical procedures",
"preoperative and postoperative management",
"replaced with fresh frozen plasma",
"antifibrinolytic agents such as Amicar",
"conservative treatment",
"intubation or tracheostomy",
"maintenance of airway",
"oral surgical procedures",
"minimal surgical trauma",
"de... | null | [
"Deficient amounts of C1 esterase inhibitor",
"capillary permeability"
] | [
"no laryngeal symptoms are present"
] |
hae:701655 | Acquired angioedema associated with rectal carcinoma and its response to danazol therapy. Acquired angioedema treated with danazol. | [
"Cases of the acquired form of angioedema have been recognized as a separate entity since 1972. Previously reported cases have been related to various hematologic malignancies. We have recently studied a patient with rectal carcinoma who manifests a complement pattern compatible with the acquired form of angioedema... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Cases of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n acquired form of angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"acquired form of angioedema",
"hematologic malignancies",
"rectal carcinoma",
"hereditary angioedema"
] | null | [
"complement pattern compatible with the acquired form of angioedema",
"episodes of angioedema were laryngeal in location"
] | [
"emergency intubation to maintain an adequate airway",
"trial of danazol prophylaxis",
"form of therapy"
] | null | null | [
"No previous personal or family history of allergic disease or angioedema was present"
] |
hae:97612 | [HLA and erythrocyte genetic markers in a family with hereditary angioneurotic edema (author's transl)]. | [
"The study deals with a family of 22 members spreading over four generations; 14 members suffer from hereditary angio-neurotic edema; all of them have been typed for 30 antigens of the A and B loci in the HLA System and for ABO and Rhesus erythrocyte markers. There is no connection between the disease and any of th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The study deals with a family of 22 members spreading over four generations; 14 members suffer from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditar... | null | [
"30 antigens of the A and B loci in the HLA System",
"ABO and Rhesus erythrocyte markers",
"HLA system",
"7 chromosomic recombinants",
"with one of the haplotypes involved"
] | [
"hereditary angio-neurotic edema"
] | null | null | null | [
"no connection between the disease and any of the markers"
] |
hae:269881 | Hereditary angioedema: review of literature and dental treatment. | [
"Hereditary angioedema (HAE) is an autosomal dominant syndrome in which the pathogenesis differs from the more common nonhereditary (allergic) angioedema. Respiratory embarrassment precipitated by trauma (including dental manipulation) accounts for the high morbidity of the patients. The purpose of this paper is to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioedema (HAE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hereditary angioedema (HAE)",
"nonhereditary (allergic) angioedema",
"HAE"
] | [
"autosomal dominant syndrome"
] | [
"Respiratory embarrassment precipitated by trauma (including dental manipulation"
] | [
"dental-medical treatment"
] | null | null | null |
hae:593984 | Hereditary angio-oedema with mesangiocapillary glomerulonephritis. | [
"A patient with hereditary angio-oedema (HAO) developed mesangiocapillary glomerulonephritis (MCGN) under observation. HAO is characterized by an inherited defect of complement-deficiency of C1 esterase. MCGN is often associated with another complement abnormality which leads to depression of serum C3 and there is ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angio-oedema (HAO)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"hereditary angio-oedema (HAO)",
"mesangiocapillary glomerulonephritis (MCGN)",
"HAO",
"MCGN",
"nephritis",
"MCGN"
] | [
"inherited defect of complement-deficiency of C1 esterase"
] | null | null | null | [
"complement abnormality",
"depression of serum C3",
"complement abnormality",
"complement abnormalities"
] | null |
hae:560146 | The anesthetic and perioperative management of a patient with documented hereditary angioneurotic edema. | [
"A patient with documented hereditary angioneurotic edema was admitted for elective surgical extraction of 3 impacted 3rd molars under local anesthesia. In order to increase his C'1-INH level, he was prepared for operation with 2 units of fresh-frozen plasma 24 hours preoperatively. Postoperatively, he was observed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with documented \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bo... | null | null | [
"hereditary angioneurotic edema"
] | [
"elective surgical extraction of 3 impacted 3rd molars",
"local anesthesia",
"prepared for operation with 2 units of fresh-frozen plasma 24 hours preoperatively",
"Postoperatively",
"observed in the ICU for 24 hours and on the ward for 2 days"
] | null | [
"increase",
"C'1-INH level"
] | [
"without any complications from the surgical trauma"
] |
hae:272511 | Hereditary angio-oedema. | [
"A family with three affected but only two symptomatic members with angio-oedema is described. One had potentially life threatening dental treatment at presentation while the other had inexplicable gastro-intestinal disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with three affected but only two symptomatic members with angio-oedema\n <span style=\"font-size:... | [
"inexplicable gastro-intestinal disease"
] | null | null | [
"potentially life threatening dental treatment"
] | null | null | null |
hae:896410 | [Abdominal manifestations in hereditary acute angioneurotic oedema. Value of study of the complement system (author's transl)]. | [
"Four individuals of the same family suffered from a functional deficiency in C1 esterase inhibitor. In three of them, the manifestations of hereditary angioneurotic oedema were abdominal, paroxystic and pseudo-surgical. They were related to the development of visceral or mucosal oedema. The measurement of total co... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Four individuals of the same family suffered from a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n functional deficiency in C1 esterase inhibitor\n <span... | null | null | [
"hereditary angioneurotic oedema",
"abdominal",
", paroxystic and pseudo-surgical",
"visceral or mucosal oedema",
"acute abdominal episodes",
"angioneurotic oedema",
"oedema of the glottis"
] | [
"surgical surveillance",
"tracheotomy",
"immediate intubation"
] | null | [
"functional deficiency in C1 esterase inhibitor",
"functional activity of C1 esterase inhibitor"
] | [
"repeated, unnecessary operations"
] |
hae:872360 | Diagnostic and therapeutic problems associated with hereditary deficiency of the C1 esterase inhibitor. | [
"Six patients in a family with a history of hereditary angioedema reported swelling of the extremities and recurrent abdominal pain occurring spontaneously or after trauma. Attacks of oedema involving the airways, the greatest danger with this disorder, were present only in one case. This autosomal dominant disease... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Six patients in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with a history of hereditary angioedema\n <span style=\"font-size: 0.8em; font-we... | null | [
"autosomal dominant disease"
] | [
"swelling of the extremities",
"recurrent abdominal pain",
"spontaneously or after trauma",
"Attacks of oedema involving the airways"
] | [
"short term prophylaxis of attacks (before surgery",
"fresh frozen plasma",
"C1 esterase inhibitor",
"long term prophylaxis of",
"antifibrinolytic and hormonal drugs",
"methyltestosterone"
] | null | [
"deficient activity of the inhibitor of the first component of complement",
"Low levels of C4,",
"absence of C1 esterase inhibitor"
] | [
"failure of tranexamic acid"
] |
hae:848726 | Laryngeal oedema due to hereditary angioedema. | [
"A case is reported in which a young man suffering from hereditary angioedema was admitted with severe airway obstruction due to groww pharyngeal and laryngeal oedema. Tracheostomy was necessary. The rationale of treatment with epsilon aminocaproic acid, tranexamic acid and fresh frozen plasma is discussed. The pat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case is reported in which a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"hereditary angioedema"
] | null | [
"severe airway obstruction",
"groww pharyngeal and laryngeal oedema"
] | [
"Tracheostomy",
"treatment with epsilon aminocaproic acid, tranexamic acid and fresh frozen plasma",
"dental extractions under general anaesthesia with tracheal intubation"
] | null | null | [
"without complications"
] |
hae:842900 | Hereditary complement defect and kinins involvement in asthma. | [
"Relationship between an inherited qualitative defect of the complement system and intrinsic asthma, and the direct participation of the kinin system in producing asthma, are reported. Qualitative complement impairment that produced hereditary angioedema in the son of an asthmatic father indicated that the kinin sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Relationship between an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited qualitative defect of the complement system\n <span style=\"font-size: 0... | [
"intrinsic asthma"
] | [
"inherited qualitative defect of the complement system"
] | null | null | null | [
"kinin system",
"Qualitative complement impairment",
"kinin system",
"vasoactive mediator"
] | null |
hae:1022317 | [Abdominal manifestations of hereditary angioneurotic edema. Importance of the exploration of the complement system (apropos of 29 families)]. | [
"Abdominal manifestations are almost constantly present (85% of cases) in the current form of hereditary Quincke's disease. In some cases, these abdominal manifestations occur even when cutaneomucosal edema is not present which leads to unwarranted often repeated and sometimes dangerous surgery. Apart from a story ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"hereditary Quincke's disease"
] | null | [
"Abdominal manifestations",
"abdominal manifestations",
"troubles"
] | [
"surgery"
] | null | [
"total complement has been assayed",
"its sharp fall",
"functional defect of the C1 esterase inhibitor or alpha2-neuraminoglycoprotein"
] | [
"cutaneomucosal edema is not present",
"unwarranted"
] |
hae:1013005 | Familial anglo-oedema--a particularly severe form. | [
"A case of hereditary angio-oedema is described together with the family history and manifestations in the father of the patient. The problems encountered in his management are discussed, including tracheostomy and genetic counselling."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angio-oedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"hereditary angio-oedema"
] | null | null | [
"tracheostomy",
"genetic counselling"
] | null | null | null |
hae:136325 | Evidence for immune complexes involving anti-lymphocyte antibodies associated with hypocomplementaemia in chronic lymphocytic leukaemia (CLL). | [
"Unmeasurable total haemolytic complement (C) was observed in serum of a patient with untreated chronic lymphocytic leukaemia and recurrent non-hereditary angioedema. Analysis of C components immunochemically demonstrated a marked reduction of C1q and C1s inhibitor, undetectable C1r, C1s and an elevated B. Haemolyt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Unmeasurable total haemolytic complement (C) was observed in serum\n <span style=\"font-size: 0.8em; font-... | [
"untreated chronic lymphocytic leukaemia",
"CLL"
] | null | null | null | null | [
"Unmeasurable total haemolytic complement (C) was observed in serum",
"marked reduction of C1q and C1s inhibitor",
"undetectable C1r, C1s and an elevated B. Haemolytic C1, C4 and C2 were less than 5 percent of normal",
"functional C1s inhibitor was absent",
"Cryoglobulin and C1q precipitins were present in ... | [
"recurrent non-hereditary angioedema",
"cytotoxic activity for autologous leukaemia cells was removed by absorption with normal isologous tonsil lymphocytes"
] |
hae:1085645 | Acquired angioedema with lymphoproliferative disorder: association of C1 inhibitor deficiency with cellular abnormality. | [
"A patient with a lymphoproliferative disorder, angioedema, and an acquired deficiency of the inhibitor of the activated first component of complement was studied. The patient's complement profile revealed depletion of the first component of complement, which has not been seen in angioedema of the hereditary type. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lymphoproliferative disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"lymphoproliferative disorder",
"angioedema",
"angioedema of the hereditary type",
"angioedema of the hereditary type"
] | null | null | null | null | [
"acquired deficiency of the inhibitor of the activated first component of complement",
"complement profile",
"depletion of the first component of complement",
"were capable of depleting the first component of complement and its inhibitor from homologous plasma"
] | [
"no evidence for C1-depleting activity in the patient's plasma",
"Normal ABO-compatible cells did not possess this"
] |
hae:1063978 | Acute angioneurotic edema of the lips and tongue due to emotional stress. | [
"Angioneurotic edema, though a fairly common medical condition, is rarely seen in dental practice. As laryngeal involvement can occur spontaneously and suddenly in the dental office or a similar complication can develop abruptly after administration of certain drugs used in dentistry, an understanding of this condi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angioneurotic edema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | null | null | [
"Angioneurotic edema",
"laryngeal involvement",
"trauma",
"laryngeal edema"
] | [
"oral surgical procedures"
] | null | null | null |
hae:933414 | Hereditary angioneurotic edema treated by partial uvulectomy. | [
"Hereditary angioneurotic edema (HANE) is a rare familial disease of C1 esterase inhibitor deficiency that produces recurring attacks of acute, circumscribed, noninflammatory edema. The technique of partial uvulectomy to treat HANE can reduce the mortality from this condition due to asphyxiation. Three cases in whi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary angioneurotic edema (HANE)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Hereditary angioneurotic edema (HANE)",
"HANE"
] | [
"rare familial disease"
] | [
"recurring attacks of acute, circumscribed, noninflammatory edema",
"asphyxiation"
] | [
"partial uvulectomy",
"partial uvulectomy"
] | null | [
"C1 esterase inhibitor deficiency"
] | null |
hae:1272760 | [Angioneurotic hereditary edema. 3 faimilial cases]. | [
"The study involved three families with hane. This disorder differs from the simple condition by its preferential visceral localisation (digestive and, above all, the glottis), its hereditary nature and the existence of a biological abnormality affecting the serum complement system (absence of enzyme activity of C1... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The study involved three families with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hane\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"hane"
] | [
"hereditary nature"
] | [
"preferential visceral localisation (digestive and",
"the glottis)",
"deaths by asphyxia"
] | null | null | [
"biological abnormality affecting the serum complement system",
"absence of enzyme activity of C1 esterase inhibitor in the serum of sufferers)"
] | [
"absence of specific therapy"
] |
hae:944358 | [Hereditary non-allergic angioneurotic edema and the complement system (author's transl)]. | [
"By way of example of a patient and his family and by means of the literature, the present knowledge of pathogenesis and therapy of hereditary non-allergic angioneurotic edema has been reviewed."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">By way of example of a patient and his family and by means of the literature, the present knowledge of pathogenesis and therapy of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-ra... | [
"hereditary non-allergic angioneurotic edema"
] | null | null | null | null | null | null |
hae:56859 | Treatment of hereditary angioneurotic edema with tranexamic acid and cinnarizine. | [
"Six out of 7 Finnish patients suffering from hereditary angioneurotic edema were helped during attacks, by treatment with tranexamic acid (AMCA, Cyklokapron, Kabi) in doses of 1.5 g 3 times daily, follow-up time 3-25 months. 3 of these patients also had continuous AMCA treatment, in the course of which 2 remained ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Six out of 7 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Finnish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"hereditary angioneurotic edema"
] | null | [
"nearly symptom-free",
"shorter and milder attacks",
"fatigue",
"nausea",
"nearly symptom-free",
"fewer and milder attacks"
] | [
"treatment with tranexamic acid (AMCA, Cyklokapron, Kabi) in doses of 1.5 g 3 times daily",
"continuous AMCA treatment",
"on a dosage of 1 g 2-3 times daily",
"stop taking AMCA after 6 weeks' treatment",
"continuous treatment with an antihistamine, cinnarizine in a dosage of 20-30 mg daily"
] | [
"Finnish"
] | null | null |
hae:1163861 | Adrenalin treatment for hereditary angioneurotic edema. | [
"In two patients studied with HAE the repeated use of 1.0 cc of 1:1000 epinephrine every hour for episodes threatening the upper airway resulted in both subjective and objective improvement of signs and symptoms in a manner we interpret as helpful. No harmful side effects have been encountered in these two young, o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In two patients studied with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HAE\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"HAE",
"HAE"
] | null | [
"both subjective and objective improvement of signs and symptoms",
"symptoms and signs of airway involvement"
] | [
"repeated use of 1.0 cc of 1:1000 epinephrine every hour for episodes threatening the upper airway",
"repeated high doses of adrenalin"
] | null | null | [
"No harmful side effects"
] |
hae:1162434 | Hereditary angioedema with 14-year remission. | [
"The concept that hereditary angioedema assumes a benign form in some families is supported by documented disease in a 37-year-old man who had had recurrent attacks for one year but has been without symptoms for 14 years. Although numerous members of the patient's family have been affected during the past five gene... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The concept that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary angioedema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"hereditary angioedema",
"angioedema"
] | null | [
"recurrent attacks for one year",
"death"
] | null | null | null | [
"has been without symptoms for 14 years"
] |
duchenne:35070564 | Late-Onset Dystrophinopathy. | [
"Dystrophinopathy is a spectrum of muscular dystrophies resulting from absolute to relative deficiency of dystrophin - a protein essential for muscle fiber integrity. This includes a severe form called Duchenne muscular dystrophy, a mild form called Becker muscular dystrophy, and intermediate muscular dystrophy. Be... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Dystrophinopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Dystrophinopathy",
"muscular dystrophies",
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"intermediate muscular dystrophy",
"Becker muscular dystrophy",
"late-onset and slow progression muscle dystrophy"
] | [
"deletions or duplications in the dystrophin gene",
"duplication of exon 2 in the dystrophin gene"
] | [
"muscle fiber integrity",
"tardive slow progression"
] | null | null | [
"absolute to relative deficiency of dystrophin -"
] | null |
duchenne:35047759 | Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"myopathy",
"DMD",
"DMD"
] | [
"X-linked",
"mutations,",
"deletions and duplications, in the dystrophin gene",
"Point mutations",
"stop codon mutations",
"nonsense mutations",
"stop-codon mutation c.10801C > T, p.Gln3601X in exon 76"
] | [
"rapid improvement in both muscle strength and cognitive and social skills"
] | [
"Ataluren",
"early treated with Ataluren at a dosage of 40 mg/kg/die"
] | null | null | null |
duchenne:35008485 | Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD). | [
"While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this work, we present a Becker Muscular Dystrophy patient with elevated... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While in most patients the identification of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic alterations\n <span style=\"font-size: 0.8em; font-we... | [
"dystrophinopathies",
"Becker Muscular Dystrophy",
"dystrophinopathies"
] | [
"genetic alterations",
"absence of exons 75 to 79, seen to be present at the genomic level",
"possible rearrangement involving DMD intron 74 and a region located upstream of the PRDX4 gene",
"presence of a ~8 Mb genomic inversion",
"Aberrant DMD transcripts",
"some of which contained segments from the reg... | [
"progressive muscle weakness",
"mild intellectual disability",
"dystrophic features"
] | null | null | [
"elevated creatinine kinase levels"
] | [
"Routine molecular techniques (Southern-blot analysis",
"failed to detect a defect in the DMD gene"
] |
duchenne:34963672 | Successful Surgical Management of a Tracheo-Innominate Artery Fistula in a Patient with Duchenne Muscular Dystrophy: A Case Report. | [
"Tracheo-innominate artery fistula (TIF) is a rare, life-threatening complication of tracheostomy that makes it difficult to secure the airway due to massive bleeding, constituting a medical emergency. Therefore, most successful surgical treatments include innominate artery debridement and tracheal fistula repair. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tracheo-innominate artery fistula (TIF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | null | null | [
"Tracheo-innominate artery fistula (TIF)",
"life-threatening",
"massive bleeding"
] | [
"tracheostomy",
"innominate artery debridement",
"tracheal fistula repair",
"successful surgical treatment of a TIF",
"maintaining cerebral blood flow through an artificial vascular graft"
] | null | null | [
"difficult to secure the airway"
] |
duchenne:34955001 | [Family genetic analysis of paternal Dystrophin gene mutations in a case of female Duchenne muscular dystrophy]. | [
"A pedigree genetic analysis of a female Duchenne muscular dystrophy (DMD) inherited from paternal chimerism was conducted to explore the genetic diagnosis strategy. No large deletions/duplications was found in the DMD gene of the proband. Next-generation sequencing (NGS) results showed that the proband had a heter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pedigree genetic analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"Mosaic"
] | [
"heterozygous mutation in the DMD gene c.4707C>A (p.C1569X)",
"mosaic ratio was about 17.7%",
"maternal skewed X-inactivation",
"recessive inherited disease of the X chromosome",
"inherited from paternal origin",
"skewed X-inactivation"
] | null | [
"reproduction"
] | null | null | [
"No large deletions/duplications was found in the DMD gene of the proband"
] |
duchenne:34946857 | Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. | [
"Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been occasionally reported. Here, we describe three independent cases o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fragile X syndrome (FXS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Fragile X syndrome (FXS)",
"autism",
"co-occurrence of FXS with other genetic disorders",
"FXS",
"Duchenne muscular dystrophy (DMD)",
"PPP2R5D--related neurodevelopmental disorder",
"FXS",
"FXS",
"FXS"
] | [
"inherited intellectual disability",
"instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene",
"2p25.3 deletion",
"de novo variant in the PPP2R5D gene",
"maternally inherited 2p25.3 deletion associated with a decreased level of the MYT1L transcript"
] | [
"macrocephaly",
"severe psychomotor delay",
"severe seizures"
] | null | null | null | null |
duchenne:34938549 | The identification of a novel splicing mutation in the DMD gene of a Chinese family. | [
"The proband is a five-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproducti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The proband is a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n five-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Duchenne muscular dystrophy (DMD)"
] | null | null | [
"obstetrics",
"genetic counseling",
"informed reproductive choices"
] | null | null | [
"clinical phenotype of his parents is normal"
] |
duchenne:34928109 | To increase body height and muscle strength - one medicine for two diseases? Case report of a boy with Silver-Russell syndrome and Duchenne muscular dystrophy. | [
"The coexistence of 2 genetic diseases can mutually modify their course. We describe the case of a 10-year-old boy with Sliver-Russell syndrome (SRS) and Duchenne muscular dystrophy (DMD). The patient's short stature, which is part of the clinical picture of both diseases, has been additionally aggravated by the st... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coexistence of 2 genetic diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"coexistence of 2 genetic diseases",
"Sliver-Russell syndrome (SRS)",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"SRS",
"DMD",
"DMD",
"carbohydrate metabolism disorders"
] | null | [
"short stature"
] | [
"steroid therapy",
"treated with recombinant human growth hormone (rhGH) for 18 months",
"rhGH therapy"
] | null | null | null |
duchenne:34889305 | Anesthetic management with remimazolam for a pediatric patient with Duchenne muscular dystrophy. | [
"With Duchenne muscular dystrophy (DMD) being the most common and most severe type of muscular dystrophy, DMD patients are at risk for complications from general anesthesia due to impaired cardiac and respiratory functions as the pathological condition progresses. In recent years, advances in multidisciplinary trea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">With \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne muscular dystrophy (DMD)",
"muscular dystrophy",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"exon deletion of the DMD gene"
] | [
"impaired cardiac and respiratory functions",
"circulatory stability",
"muscle twitches disappeared in train-of-four monitoring"
] | [
"general anesthesia",
"multidisciplinary treatment",
"surgery",
"Remimazolam is a benzodiazepine derivative similar to midazolam",
"antagonist",
"propofol",
"total intravenous anesthesia with remimazolam",
"single-incision laparoscopic percutaneous extraperitoneal closure for inguinal hernia",
"gene... | null | [
"serum creatine phosphokinase level was extremely high",
"elevated serum levels of creatine phosphokinase, etc."
] | [
"although he had no symptoms of DMD",
"lost the ability to respond to verbal commands",
"open his eyes upon verbal command"
] |
duchenne:34869784 | Early Identification of DMD in the Setting of West Syndrome. | [
"Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchene muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchene muscular dystrophy (DMD)",
"muscular dystrophy",
"DMD",
"DMD",
"West syndrome",
"West syndrome",
"West syndrome",
"epilepsy",
"DMD",
"DMD"
] | [
"genetic disorder",
"X-linked recessive inheritance pattern",
"pathogenic variations within the DMD gene",
"multiple pathogenic variants, the ominous one being in the DMD gene"
] | [
"severe muscular phenotype",
"progressive muscle weakness",
"atrophy"
] | [
"early use of steroids",
"early symptomatic treatment"
] | null | null | null |
duchenne:34805447 | Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association. | [
"Duchenne muscular dystrophy (DMD), caused by a mutation in the DMD gene, is known to be associated with co-morbidities including cardiomyopathy, respiratory failure, neuromuscular scoliosis and intellectual disability. Animal studies have explored the susceptibility of dystrophin-deficient mice with the developmen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"myogenic tumors",
"DMD",
"rhabdomyosarcoma (RMS)",
"DMD",
"RMS",
"myogenic tumors",
"DMD",
"alveolar RMS",
"myogenic tumors"
] | [
"mutation in the DMD gene",
"dystrophin-deficient",
"DMD gene mutation"
] | [
"cardiomyopathy",
"respiratory failure",
"neuromuscular scoliosis",
"intellectual disability"
] | null | null | null | null |
duchenne:34764091 | Non-compaction cardiomyopathy, Becker muscular dystrophy, neuropathy and recurrent syncope. | [
"We present the case of a 50-year-old man presenting with new heart failure symptoms. He had no evidence of any ischaemic cardiomyopathy, however, further cardiac imaging showed a left ventricular non-compaction cardiomyopathy. He was noted to have muscular weakness and an exhaustive search for associated comorbidi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 50-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Becker muscular dystrophy",
"dystrophinopathy",
"rare cardiomyopathies",
"neuromuscular syndromes"
] | null | [
"new heart failure symptoms",
"left ventricular non-compaction cardiomyopathy",
"muscular weakness",
"left ventricular non-compaction"
] | null | null | null | [
"no evidence of any ischaemic cardiomyopathy"
] |
duchenne:34743506 | Complex glycerol kinase deficiency - long-term follow-up of two patients. | [
"Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Complex glycerol kinase deficiency (CGKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Complex glycerol kinase deficiency (CGKD)",
"rare genetic syndrome",
"contiguous gene syndromes",
"CGKD",
"Duchenne muscular dystrophy",
"complex glycerol kinase deficiency",
"rare disease"
] | [
"microdeletion of genes located in Xp21",
"deletion on Xp21 chromosome",
"complete deletion of NR0B1 and GK genes",
"IL1RAPL1 genes were deleted",
"DMD gene deletion",
"whole gene",
"the C-terminal region of DMD was deleted"
] | [
"adrenal hypoplasia",
"intellectual disability",
"salt loss syndrome"
] | null | null | [
"glycerol kinase deficiency"
] | null |
duchenne:34731335 | Becker muscular dystrophy: case report, review of the literature, and analysis of differentially expressed hub genes. | [
"Becker muscular dystrophy (BMD) is a genetic and progressive neuromuscular disease caused by mutations in the dystrophin gene with no available cure. A case report and comprehensive review of BMD cases aim to provide important clues for early diagnosis and implications for clinical practice. Genes and pathways ide... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"genetic and progressive neuromuscular disease",
"BMD",
"BMD",
"dystrophin-deficient muscular dystrophies",
"BMD",
"BMD",
"BMD/Duchenne muscular dystrophy (DMD)",
"BMD/DMD"
] | [
"mutations in the dystrophin gene",
"mutation points of the dystrophin gene",
"TUBA1A"
] | null | null | null | null | [
"no available cure"
] |
duchenne:34689766 | A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report. | [
"Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location.",
"A Sri Lankan boy with developmental delay an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Contiguous gene deletion syndromes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Contiguous gene deletion syndromes",
"primary adrenal insufficiency",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Xp21 contiguous gene deletion syndrome",
"contiguous gene deletion syndrome",
"Duchenne muscular dystrophy",
"contiguous gene deletion syndromes"
] | [
"rare genomic disorders",
"deletion of large segments of DNA",
"contiguous gene deletion involving Xp21 genomic location",
"hemizygous deletion involving the final 35 exons of the dystrophin gene",
"hemizygous deletion of the glycerol kinase gene",
"deletions involving dystrophin and glycerol kinase genes... | [
"developmental delay",
"failure to thrive",
"hyperpigmentation",
"drowsiness",
"progressive difficulty in walking",
"waddling gait",
"hypotonia",
"calf hypertrophy",
"positive Gower's sign",
"myopathy",
"probable congenital adrenal hypoplasia",
"isolated primary adrenal insufficiency"
] | null | [
"Sri Lankan"
] | [
"hypovolaemia",
"hypoglycaemia",
"hyponatraemia",
"hyperkalaemia",
"low cortisol, low aldosterone",
"high ACTH",
"low 17-hydroxyprogesterone",
"creatine kinase was very high",
"pseudohypertriglyceridemia",
"large glycerol peak on urine organic acid analysis",
"glycerol kinase deficiency",
"gly... | [
"congenital adrenal hypoplasia"
] |
duchenne:34640386 | Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology. | [
"A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autism spectrum disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"autism spectrum disorder",
"dystrophinopathies",
"ASD",
"neurodevelopmental disorders",
"ASD",
"Duchenne muscular dystrophy",
"autism spectrum disorder"
] | [
"large deletion of the dystrophin gene"
] | null | null | null | null | null |
duchenne:34634842 | Acute perimyocarditis mimicking acute myocardial infarction in a 12-year-old boy with duchenne muscular dystrophy: a case report. | [
"Differential diagnosis of chest pain in the pediatric population is important but can be challenging. A 12-year-old boy with Duchenne muscular dystrophy presented with chest pain, cardiac enzyme elevation, and convex ST elevations in the inferior leads with reciprocal ST depression in the anterior leads on electro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne muscular dystrophy",
"acute perimyocarditis",
"acute pericarditis",
"acute myocardial infarction",
"acute perimyocarditis"
] | null | [
"chest pain",
"chest pain",
"convex ST elevations in the inferior leads with reciprocal ST depression in the anterior leads",
"acute myocardial infarction",
"acute pericarditis pattern",
"concave ST elevations in most leads and PR depression",
"global left ventricular dysfunction",
"myocardial dysfunc... | [
"Ibuprofen",
"continuous milrinone infusion"
] | null | [
"cardiac enzyme elevation"
] | [
"normal left ventricular function",
"normal coronary arteries",
"without chest pain",
"normal sinus rhythm without ST change"
] |
duchenne:34632296 | Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent. | [
"Patients with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to concomitant pathologies, they are often at high risk for anesthesiologic complications. We describe how the non-invasive mechanical ventilation has been an alternative ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"progressive dysphagia",
"malnutrition",
"anesthesiologic complications",
"prevent respiratory complications"
] | [
"gastrostomy tube feeding",
"non-invasive mechanical ventilation",
"successful respiratory support option during the gastrostomy tube placement",
"continuous NIV treatment",
"use of NIV can support alveolar ventilation, before, during and after mini-invasive procedures"
] | null | null | null |
duchenne:34595143 | Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East. | [
"The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The timely and accurate genetic diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: ... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD",
"DMD"
] | null | null | [
"prompt initiation of disease management and genetic counseling"
] | [
"Middle Eastern countries"
] | null | [
"lack of disease awareness",
"failure to recognize the signs and symptoms of DMD"
] |
duchenne:34487533 | [Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy]. | [
"To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention.",
"Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To identify the etiology of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe symptoms\n <span style=\"font-size: 0.8em; font-weight: ... | [
"DMD",
"contiguous deletion syndrome"
] | [
"the exon 1-79 of DMD gene were deleted",
"46, XY",
"deletion of the short arm of X chromosome",
"5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome",
"involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and FAM47B.",
"dele... | [
"severe symptoms"
] | [
"genetic counseling",
"clinical intervention"
] | null | null | null |
duchenne:34485198 | Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration. | [
"ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our resu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ISPD gene mutation-related diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"dystroglycanopathies",
"limb-girdle muscular dystrophies",
"Duchenne muscular dystrophy"
] | [
"ISPD gene mutation-related diseases",
"ISPD gene mutations",
"exon deletions of ISPD gene"
] | [
"exercise ability",
"prolong survival"
] | [
"low-dose prednisone therapy",
"ISPD therapy"
] | null | null | null |
duchenne:34355126 | A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. | [
"Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (BMD, mild form) and intermediate muscular dystrophy (IMD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pathogenic germline variants in DMD gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"dystrophinopathies disorders",
"Duchenne muscular dystrophy (DMD, severe form)",
"Becker muscular dystrophy (BMD, mild form)",
"intermediate muscular dystrophy (IMD)",
"IMD"
] | [
"Pathogenic germline variants in DMD gene",
"well-known cytoskeletal protein named dystrophin",
"alterations in DMD gene and protein",
"previously unreported intronic variant in DMD",
"novel DMD variant allele, c.9649+4A>T that was located in a splice donor site within intron 66",
"presence of both varian... | [
"reduced dystrophin staining in the muscle biopsy",
"discontinuous sarcolemmal staining in muscle biopsy"
] | null | null | [
"high creatine kinase levels",
"reduced dystrophin protein levels"
] | [
"negative results for conventional genetic analysis"
] |
duchenne:34317521 | Acute Chest Pain in Duchenne Muscular Dystrophy Patient With Anomalous Coronary Artery: An Etiologic Conundrum. | [
"A 14-year-old with Duchenne muscular dystrophy (DMD) developed chest pain with ST-segment elevation, elevated serum troponin, and progressive ventricular dysfunction. Multimodality imaging showed an anomalous right coronary artery from the left sinus of Valsalva with intramural course, but further diagnostic testi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"acute presentation of DMD-associated cardiomyopathy"
] | null | [
"chest pain",
"ST-segment elevation",
"progressive ventricular dysfunction",
"anomalous right coronary artery from the left sinus of Valsalva with intramural course"
] | null | null | [
"elevated serum troponin"
] | null |
duchenne:34276787 | Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction. | [
"Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism. Multiplex Ligation-dependent Probe Amplification was performed on a Duchenne muscular dyst... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Germline mosaicism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Duchenne muscular dystrophy"
] | [
"Germline mosaicism",
"germline mosaicism",
"deletion mutations",
"same deletion in the exon 51 of the dystrophin gene, which was 50,035 bp in size, was detected in the proband and the fetus but not in their parents",
"mutant alleles of 3.53% in maternal blood cells",
"maternal low-level mosaicism",
"ge... | null | null | null | null | null |
duchenne:34172357 | A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy. | [
"Duchenne and Becker muscular dystrophy (DMD/BMD) are commonly inherited muscle disorders. We report a 31-year-old male who had muscle symptoms with left-right differences and intellectual disability. He was diagnosed with BMD at age 15 primarily based on muscle biopsy findings. A few years later, DMD gene analysis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne and Becker muscular dystrophy (DMD/BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Duchenne and Becker muscular dystrophy (DMD/BMD)",
"BMD",
"XXY Klinefelter's syndrome",
"DMD",
"Klinefelter's syndrome"
] | [
"inherited muscle disorders",
"heterozygous carrier of a normal copy of the gene and a mutated copy with an exon 45-54 deletion, which is expected to result in an out-of-frame mutation",
"skewed XCI pattern",
"skewed XCI",
"genetically proven heterozygous mutation of the DMD gene",
"skewed XCI pattern"
] | [
"muscle symptoms with left-right differences",
"intellectual disability",
"left-right differences in skeletal muscle symptoms"
] | null | null | null | null |
duchenne:34148958 | Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability. | [
"Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders, and patients often present with autism spectrum disorder (ASD). We herein report a case of DMD accompanied by ASD that was successfully treated with aripiprazole, an atypical antipsychotic that has been used for treating irritability ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"neuropsychiatric disorders",
"autism spectrum disorder (ASD)",
"DMD",
"ASD",
"irritability",
"ASD",
"DMD"
] | null | [
"severe psychotic symptoms",
"irritability, insomnia, hallucinations, and delusions"
] | [
"aripiprazole",
"atypical antipsychotic",
"aripiprazole"
] | null | null | [
"without any detectable side effects"
] |
duchenne:34140971 | Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. | [
"[This corrects the article DOI: 10.3389/fgene.2021.605611.]."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[This corrects the article DOI: 10.3389/fgene.2021.605611.].</div>"
] | null | null | null | null | null | null | null |
duchenne:34064562 | Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report. | [
"Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. C... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"progressive and lethal X-linked recessive",
"neuromuscular disease",
"Duchenne muscular dystrophy",
"neuromuscular disorders",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"presymptomatic Duchenne muscular dystrophy"
] | [
"mutations in the dystrophin gene",
"inherited metabolic and neuromuscular diseases"
] | [
"muscle weakness",
"muscle damage"
] | [
"genetic therapy",
"rehabilitation",
"enrolled in a rehabilitation program",
"genetic treatment"
] | [
"Korea"
] | [
"Creatine kinase",
"highly elevated creatine kinase level",
"profound hyperCKemia"
] | [
"no obvious symptoms of muscle weakness"
] |
duchenne:34049779 | Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre. | [
"Due to their frailty and cardiorespiratory compromise adults with DMD are considered extremely vulnerable and at high risk of severe infection should they contract COVID-19. We report 7 adults with DMD aged 17-26 years who tested positive on a nasopharyngeal PCR swab for SARS-CoV-2. Despite long term corticosteroi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Due to their frailty and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiorespiratory compromise\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"DMD",
"COVID-19",
"DMD",
"SARS-CoV-2"
] | null | [
"cardiorespiratory compromise",
"severe infection",
"severe respiratory compromise",
"anosmia",
"reduced sensation",
"transient fever with or without sore throat",
"cough",
"runny nose"
] | [
"long term corticosteroid treatment",
"night-time ventilation",
"receiving treatment for moderate to severe cardiomyopathy"
] | null | null | [
"none",
"moderate to severe symptoms",
"asymptomatic",
"without complication",
"no patient required hospitalization"
] |
duchenne:34018669 | An approach to rapid characterization of DMD copy number variants for prenatal risk assessment. | [
"Prenatal detection of structural variants of uncertain significance, including copy number variants (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification and phenotypic severity of CNVs are currently assessed by familial segregatio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Prenatal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"copy number variants (CNV)",
"Duchenne muscular dystrophy"
] | [
"duplication of uncertain significance encompassing a portion of the dystrophin gene (DMD)",
"in DMD",
"duplication involving DMD"
] | null | [
"genetic counseling",
"counseling"
] | null | null | null |
duchenne:33966752 | Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks. | [
"Dystrophinopathy is an X-linked recessive muscular dystrophy caused by mutations in the DMD gene. Herein we describe the prenatal detection of DMD gene mutations in a patient with no family history, by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS).",
"A 41-ye... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Dystrophinopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Dystrophinopathy",
"muscular dystrophy"
] | [
"X-linked recessive",
"mutations in the DMD gene",
"DMD gene mutations",
"copy number variation was detected in the maternal X chromosome",
"duplication",
"in exons 1-29 of the dystrophin gene",
"duplications in the DMD gene"
] | null | null | null | null | [
"no family history",
"uninformative results were obtained for the fetal sex chromosomes",
"no family history"
] |
duchenne:33834681 | [Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report]. | [
"Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in thi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Basal cell nevus syndrome (BCNS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Basal cell nevus syndrome (BCNS)",
"Gorlin-Goltz syndrome",
"BCNS",
"Duchenne muscular dystrophy"
] | [
"rare autosomal dominant genetic disease",
"mutation in the PTCH1 gene"
] | null | null | null | null | null |
duchenne:33826161 | Alleviation of masticatory disturbance with an occlusal splint in a Duchenne muscular dystrophy patient. | [
"To present an occlusal splint effective for alleviating masticatory disturbance in Duchenne muscular dystrophy (DMD).",
"A 13-year-old male DMD patient with masticatory disturbance presented with an open bite, with occlusal contact only between the first and second molars bilaterally and reduced masticatory perf... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To present an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n occlusal splint\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"alleviating masticatory disturbance",
"masticatory disturbance",
"open bite, with occlusal contact only between the first and second molars bilaterally",
"reduced masticatory performance",
"masticatory function",
"Although occlusal force remained at 13.9-16 kg",
"masticatory performance increased",
"... | [
"occlusal splint",
"applied an occlusal splint that achieved occlusal contact for all teeth",
"occlusal splint increased occlusal contact points from 11 to 60",
"occlusal splint",
"occlusal splint"
] | null | [
"digastric muscle activity increased from 8.7% to 18.0% MVC"
] | null |
duchenne:33782774 | Early extubation after left ventricular assist device implantation in a patient with Duchenne muscular dystrophy: a case report. | [
"Management of Duchenne muscular dystrophy (DMD) cardiomyopathy is increasingly important for the survival of these patients. Left ventricular assist device (LVAD) is an alternative treatment for refractory heart failure in DMD. A 20-year-old man with DMD and dilated cardiomyopathy underwent surgery for LVAD implan... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD) cardiomyopathy\n <span style=\"font-size: 0.8em; font-weig... | [
"Duchenne muscular dystrophy (DMD) cardiomyopathy",
"DMD",
"DMD",
"dilated cardiomyopathy",
"DMD",
"DMD"
] | null | [
"refractory heart failure",
"Respiratory failure",
"muscle weakness"
] | [
"Left ventricular assist device (LVAD)",
"surgery for LVAD implantation",
"surgery",
"general anesthesia",
"weaning from mechanical ventilation",
"fast-track anesthesia (FTA)",
"preoperative pulmonary rehabilitation which includes thoracic expansion exercise",
"air stacking exercise with manual resusc... | null | null | [
"without complications"
] |
duchenne:33777091 | Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. | [
"Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two common kinds of neuromuscular disorders sharing various similarities in clinical manifestations. SMA is an autosomal recessive genetic disorder that results from biallelic mutations of the survival motor neuron 1 gene (SMN1; OMIM 600354) o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Spinal muscular atrophy (SMA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Spinal muscular atrophy (SMA)",
"Duchenne muscular dystrophy (DMD)",
"neuromuscular disorders",
"SMA",
"DMD",
"synchronous SMA and DMD",
"neuromuscular diseases"
] | [
"autosomal recessive genetic disorder",
"biallelic mutations of the survival motor neuron 1 gene (SMN1; OMIM 600354) on the 5q13 chromosome",
"X-linked disorder",
"defects in the DMD gene (OMIM 300377) on the X chromosome",
"homozygous deletion in exons 7 and 8 of the SMN1 gene and a deletion in exon 50 of ... | [
"clinical manifestations of both two diseases",
"poor motor development",
"progressive muscle weakness"
] | null | [
"Chinese"
] | null | null |
duchenne:33741227 | A rare case of monozygotic triplets with Duchenne muscular dystrophy. | [
"Twins with Duchenne muscular dystrophy (DMD) have been widely studied. We report the first rare case of monozygotic triplets with DMD who shared consistent phenotypes, including delayed motor and language milestones, muscle wasting and weakness, joint contracture, and lumbar lordosis. Muscle magnetic resonance ima... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Twins\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"A de novo mutation (exon 49-52 deletion) was found in the triplets but not in their mother"
] | [
"delayed motor and language milestones",
"muscle wasting and weakness",
"joint contracture",
"lumbar lordosis",
"similar muscle injury characteristics",
"motor function had deteriorated",
"muscle fatty infiltration was more extensive and severe"
] | [
"prednisone, idebenone",
"rehabilitation management"
] | null | [
"dystrophin absence"
] | null |
duchenne:33741226 | Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype. | [
"Duchenne muscular dystrophy is an X-Linked neuromuscular disorder, and the most common muscular dystrophy. Neuropsychiatric phenotype associated to DMD gene mutations include now low IQ scores, epilepsy, autism, and attention deficit disorder. These have been observed with higher frequency in mutations that disrup... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"neuromuscular disorder",
"muscular dystrophy",
"attention deficit disorder",
"West syndrome",
"Duchenne muscular dystrophy",
"West syndrome",
"West syndrome",
"neuropsychiatric spectrum",
"Duchenne muscular dystrophy"
] | [
"X-Linked",
"DMD gene mutations",
"mutations that disrupt the short isoforms Dp71 and Dp140",
"novel hemizygous nonsense pathogenic variant in the exon 8 of the DMD gene c.811C>T, p.(Gln271*)"
] | [
"Neuropsychiatric phenotype",
"now low IQ scores",
"epilepsy",
"autism"
] | null | null | null | null |
duchenne:33718301 | Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1. | [
"Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine phosphokinase levels. A multiplex ligation-dependent probe amplification ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Herein, we present a rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dyspla... | [
"co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1)",
"DMD",
"FMD1"
] | [
"X-linked diseases",
"de novo duplications of exons 2-37",
"pathogenic missense variant in FLNA (NM_001110556.2: c.3557C>T/p.Ser1186Leu)"
] | [
"proximal muscle weakness",
"atypical features",
"facial dysmorphism",
"multiple joint contractures",
"severe scoliosis",
"atypical manifestations"
] | null | null | [
"elevated creatine phosphokinase levels"
] | [
"atypical manifestations of DMD"
] |
duchenne:33566169 | A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family. | [
"Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in DMD gene effecting the expression of dystrophin. Generally female carriers are asymptomatic; however, it has been suggested that carriers may exhibit symptoms. We investigated a 6-year-old Chinese girl exhibiting ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"BMD"
] | [
"mutations in DMD gene",
"expression of dystrophin",
"novel heterozygous mutation, c.3458_3459insAA, within exon 26 of the DMD gene",
"mosaicism in her lymphocytes with 45, X [17%]/46, XX [83%]",
"X-chromosome inactivation (XCI) patterns in the peripheral blood of the child were slightly skewed: proband wit... | null | null | [
"Chinese"
] | [
"persistently elevated creatine kinase and creatine kinase isoenzyme levels"
] | [
"asymptomatic",
"asymptomatic"
] |
duchenne:33502125 | Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency. | [
"The University of Missouri (MU) has established a colony of dystrophin-deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The University of Missouri (MU) has established a colony of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dystrophin-deficient\n <span style=\"font-size... | [
"dystrophin-deficient",
"dystrophinopathies",
"Duchenne muscular dystrophy",
"dystrophinopathy"
] | [
"compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene",
"no ameliorating normal X chromosome"
] | [
"normal-appearing",
"died",
"reduced skeletal and laryngeal muscle volume",
"mild dilatation of the oesophagus",
"extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles",
"myocardial findings",
"death",
"sudden cardiac death"
] | null | null | null | null |
duchenne:33447533 | Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a fatal X-linked genetic disease of the neuromuscular system and is the most serious type of muscular dystrophy in humans. The disease is characterized by progressive muscular atrophy and a poor prognosis. The incidence rate is 1/3500, and symptoms appear at age of 5 years-old.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"muscular dystrophy",
"DMD",
"inherited the disorder",
"DMD"
] | [
"fatal X-linked genetic disease of the neuromuscular system",
"next-generation sequencing"
] | [
"progressive muscular atrophy"
] | null | null | [
"abnormal aminotransferases",
"measures of creatine kinase (CK), CK isoenzyme, and serum lactate dehydrogenase",
"transaminitis",
"increased aminotransferases",
"elevated CK"
] | [
"without liver damage on computed tomography"
] |
duchenne:33422235 | A 17-Year-Old With Becker Muscular Dystrophy and Unusual Polysomnography Findings. | [
"A 17-year-old male patient who was diagnosed with Becker muscular dystrophy (nonsense mutation [c.3822C>A] within exon 28 of the DMD gene) at 6 years of age was evaluated in the multidisciplinary neuromuscular clinic for loss of ambulation for 1 year. From a pulmonary perspective, there were no acute or chronic re... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 17-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy"
] | [
"nonsense mutation [c.3822C>A] within exon 28 of the DMD gene)"
] | [
"loss of ambulation for 1 year",
"symmetrically diminished aeration",
"obesity",
"BMI 40 kg/m2)",
"FVC of 83% predicted with actual volume of 3.5 L",
"peak cough flow of 445 L/min (all within normal limits)"
] | null | null | null | [
"no acute or chronic respiratory symptoms",
"no history of pneumonia or aspiration",
"nonambulant",
"normal oxygen saturation and end-tidal CO2 when awake",
"no respiratory distress"
] |
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