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 |
|---|---|---|---|---|---|---|---|---|---|---|
duchenne:16353285 | Preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD) by triplex-nested PCR. | [
"Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene. About 2/3 of DMD cases are caused by gross DMD gene deletion mutations. The purpose of this study was to develop a series of single-cell multiplex-nested... | [
"<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)",
"DMD",
"PGD",
"DMD",
"DMD"
] | [
"lethal X-linked recessive disorder",
"mutation in the DMD gene",
"gross DMD gene deletion mutations",
"DMD deletions",
"DMD gene deletion",
"known deletions"
] | [
"biochemical pregnancies",
"normal offspring"
] | [
"PGD cycles",
"50 unaffected embryos were transferred (mean = 2.9 +/- 1.1 embryos per cycle)",
"clinical pregnancies",
"PGD"
] | null | null | null |
duchenne:16337060 | Acquired noncompaction in Duchenne muscular dystrophy. | [
"Acquired left ventricular hypertrabeculation/noncompaction (LVHT) is rare and has been described in patients with mitochondriopathy, Barth syndrome, and Becker muscular dystrophy. Here we report acquired LVHT in a 28-year-old man with Duchenne muscular dystrophy who required non-invasive, positive-pressure ventila... | [
"<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 Acquired left ventricular hypertrabeculation/noncompaction (LVHT)\n <span style=\"font-size: 0.8em; font-w... | [
"mitochondriopathy",
"Barth syndrome",
"Becker muscular dystrophy",
"acquired LVHT",
"Duchenne muscular dystrophy",
"acquired LVHT"
] | null | [
"Acquired left ventricular hypertrabeculation/noncompaction (LVHT)",
"muscular respiratory failure",
"enlarged left atrium and ventricle",
"reduced fractional shortening",
"enlarged left atrium and ventricle",
"systolic dysfunction",
"mitral insufficiency",
"LVHT"
] | [
"non-invasive, positive-pressure ventilation"
] | null | null | [
"no LVHT"
] |
duchenne:16276108 | Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. | [
"We have studied a male patient with significant developmental delay, growth failure, hypotonia, girdle weakness, microcephaly, and multiple congenital anomalies including atrial (ASD) and ventricular (VSD) septal defects. Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have studied 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"neuromuscular disease"
] | [
"three de novo X chromosome aberrations",
"karyotype 46,Y,der(X)inv(X) (p11.4q11.2)inv(X)(q11.2q21.32 approximately q22.2)del(X)(q22.3q22.3) was determined",
"three X chromosome aberrations",
"pericentric inversion (inv 1) that disrupted the Duchenne muscular dystrophy (DMD) gene, dystrophin, at Xp11.4; an Xq... | [
"significant developmental delay",
"growth failure",
"hypotonia",
"girdle weakness",
"microcephaly",
"multiple congenital anomalies including atrial (ASD) and ventricular (VSD) septal defects",
"cognitive impairment"
] | null | null | [
"acyl-CoA synthetase long chain family member 4 (ACSL4)"
] | null |
duchenne:16236395 | [Dilated cardiomyopathy and lipid-lowering drug muscle toxicity revealing late-onset Becker's disease]. | [
"The Becker's muscular dystrophy is a genetic myopathy due to mutations of the dystrophin gene, located in the Xp21 region, with a clinical expression usually occurring in young adults.",
"We report an atypical case of late onset Becker's muscular dystrophy diagnosed at the age of 57. The patient suffered from mi... | [
"<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 Becker's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker's muscular dystrophy",
"genetic myopathy",
"late onset Becker's muscular dystrophy",
"Becker's muscular dystrophy"
] | [
"mutations of the dystrophin gene, located in the Xp21 region",
"deletion of the exons 11-13 in the Xp21 gene"
] | [
"mild skeletal muscle involvement",
"severe dilating cardiomyopathy",
"primitive dilated cardiomyopathy"
] | [
"use of statins and fibrates"
] | null | [
"persistently elevated CPK"
] | null |
duchenne:16231306 | Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. | [
"To report a multi-technical approach to Duchenne muscular dystrophy (DMD) mutation testing through carrier analysis, in the prenatal diagnosis of a male foetus without a known mutation segregating in the family and with inconclusive results of linkage analysis.",
"Haplotype analysis with the DMD region markers f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a multi-technical approach to \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) mutation testing\n <span style=\... | [
"Duchenne muscular dystrophy (DMD) mutation testing"
] | [
"intragenic recombination of the DMD gene in foetal DNA",
"pattern compatible with a heterozygous exon 60 mutation in the mother's DNA",
"presence of a novel 7 base-pair deletion in exon 60 of the DMD gene in the mother",
"DMD mutation detection in the mother and the exclusion in the foetus"
] | null | null | null | null | [
"inconclusive results of linkage analysis",
"haplotype analysis gave inconclusive results",
"normal migration pattern",
"linkage analysis is not conclusive"
] |
duchenne:16213254 | Cardiac rehabilitation after heart transplantation in a patient with Becker's muscular dystrophy: a case report. | [
"Becker's muscular dystrophy (BMD) is associated with abnormal cardiac findings in 75% of cases; up to one third will develop ventricular dilatation leading to congestive heart failure, at times necessitating cardiac transplant. Candidates are selected from a base of heart failure patients who are usually New York ... | [
"<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's muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Becker's muscular dystrophy (BMD)",
"heart failure",
"BMD",
"dilated cardiomyopathy",
"NYHA class IIIa",
"intractable heart failure",
"BMD"
] | null | [
"abnormal cardiac findings",
"ventricular dilatation",
"congestive heart failure",
"New York Heart Association (NYHA) class III or IV",
"functional improvement",
"12-minute walking distance had improved from 716.28 to 929.64 m (30% improvement",
"(55% improvement",
"weight loss from 81.65 to 78.93 kg"... | [
"cardiac transplant",
"Treatment in a phase II cardiac rehabilitation program",
"transplantation",
"orthotopic cardiac transplantation",
"treatment in a phase II cardiac rehabilitation program",
"cardiac rehabilitation",
"using a stationary bicycle once a day for 30 minutes",
"walking 1 hour a day",
... | null | [
"increased his conditioning metabolic equivalent level from 3.5 to 5.5"
] | [
"without BMD"
] |
duchenne:16194518 | [Respiratory muscle aids during an episode of aspiration in a patient with Duchenne muscular dystrophy]. | [
"We report the case of a Duchenne muscular dystrophy patient with good bulbar function but severely decreased forced vital capacity (9%) and spontaneous peak cough flow (PCF) (2.35 L/s). The patient needed continuous noninvasive ventilation (NIV) consisting of a volumetric ventilator with a nighttime nasal mask and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Duchenne muscular dystrophy",
"neuromuscular diseases"
] | null | [
"good bulbar function",
"severely decreased forced vital capacity (9%)",
"spontaneous peak cough flow (PCF) (2.35 L/s)",
"episode of serious food aspiration"
] | [
"continuous noninvasive ventilation (NIV) consisting of a volumetric ventilator with a nighttime nasal mask and a daytime mouthpiece",
"application of manually assisted coughing techniques by insufflation with a resuscitation bag and chest thrust (manually assisted PCF after maximum insufflation capacity of 4.33 ... | null | null | [
"no material remained"
] |
duchenne:16181897 | CardioWest total artificial heart in a moribund adolescent with left ventricular thrombi. | [
"Bridge to transplant is a well-known strategy to enable patients with congestive heart failure to live until transplant. A 15-year-old boy with Beckers' muscular dystrophy and cardiomyopathy was accepted for heart transplantation. He suffered a cardiac arrest and was placed on extracorporeal membrane oxygenator. A... | [
"<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 Bridge to transplant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"congestive heart failure",
"Beckers' muscular dystrophy",
"cardiomyopathy"
] | null | [
"cardiac arrest",
"Multiple left ventricular thrombi",
"unknown presence of significant left ventricular thrombi"
] | [
"Bridge to transplant",
"live until transplant",
"heart transplantation",
"placed on extracorporeal membrane oxygenator",
"paracorporeal biventricular assist device and a total artificial heart",
"bridge to transplant",
"CardioWest total artificial heart",
"ventriculectomy",
"total artificial heart ... | null | null | null |
duchenne:16157186 | Left ventricular synchronization by biventricular pacing in Becker muscular dystrophy as assessed by tissue Doppler imaging. | [
"Biventricular (BiV) pacing is a promising therapy for severe heart failure. The effect of BiV pacing is cardiac resynchronization of both ventricles. Asynchrony of the ventricular contraction and restoration of cardiac synchronization can be assessed by tissue Doppler imaging. Here we describe a patient with Becke... | [
"<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 Biventricular (BiV) pacing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"severe heart failure",
"Becker muscular dystrophy",
"dilated cardiomyopathy"
] | null | [
"cardiac resynchronization of both ventricles",
"Asynchrony of the ventricular contraction",
"restoration of cardiac synchronization",
"heart failure"
] | [
"Biventricular (BiV) pacing",
"BiV pacing",
"BiV pacemaker was implanted"
] | null | null | null |
duchenne:16133659 | A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene. | [
"The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), is the largest known human gene and is characterized by the huge size of its introns. Intron 2, the second largest intron, is 170-kb long and has been shown to include a 140-bp cryptic exon (exon 2a) in its 5' region. The rest of this intr... | [
"<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 dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"dystrophinopathy"
] | [
"dystrophin gene",
"huge size of its introns",
"Intron 2, the second largest intron, is 170-kb long",
"140-bp cryptic exon (exon 2a) in its 5'",
"cryptic exon, located in the 3' region of intron 2",
"promoter- or tissue-specific manner",
"unknown 98-bp insertion precisely between exons 2 and 3",
"dyst... | null | null | null | null | null |
duchenne:16128380 | Left ventricular hypertrabeculation/noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation. | [
"Though cardiac involvement is a frequent finding in patients with Duchenne muscular dystrophy (DMD) at the wheel-chair-bound stage, left ventricular hypertrabeculation (LVHT) has not been reported. The patient is a 28-year-old male with the typical clinical features of end stage DMD. Since the age of 16 years he r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Though \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy (DMD)",
"end stage DMD",
"DMD",
"LVHT"
] | null | [
"cardiac involvement",
"left ventricular hypertrabeculation (LVHT)",
"chronic heart failure",
"hyperthyroidism",
"atrial fibrillation",
"mitral insufficiency",
"enlarged left atrial diameter",
"LVHT",
"cardiac involvement",
"rhythm abnormalities",
"valve abnormalities",
"dilative cardiomyopath... | [
"wheel-chair-bound stage",
"ventilatory support by means of non-invasive positive-pressure ventilation (NIPPV), initially intermittently and since age 27 permanently",
"amiodarone",
"discontinuation of amiodarone"
] | null | null | [
"LVHT was absent at the initial echocardiographic examination"
] |
duchenne:16086277 | [Therapy of Duchenne muscular dystrophy with umbilical cord blood stem cell transplantation]. | [
"To analyze a Duchenne muscular dystrophy(DMD) patient's muscular regeneration, dystrophin expression and locomotive variation before and after he underwent umbilical cord blood stem cell transplantation in order to assess the therapeutic effect.",
"A 12-year-old DMD boy who could not walk for 3 years was confirm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To analyze 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 Duchenne muscular dystrophy(DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Duchenne muscular dystrophy(DMD)",
"DMD",
"DMD",
"DMD",
"DMD",
"Duchenne muscular dystrophy",
"DMD",
"DMD"
] | [
"deletion exon of DMD gene",
"transformed from type O to type AB (the donor's blood type being AB)",
"genotype was completely the same as the donor's",
"the defected DMD gene (exon 19 deletion) had been corrected",
"the donor's gene DNA accounted for 1%-13%"
] | [
"muscular regeneration",
"locomotive variation",
"regenerating muscles",
"locomotive function",
"dystrophin expressions were weak",
"improvement in his arms and legs",
"improve the locomotive function"
] | [
"umbilical cord blood stem cell transplantation",
"piece of umbilical cord blood stem cell with",
"pretreatment for",
"with busulfan, cyclophosphamide and rabbit anti-human thymocyte globulin",
"the allergenic cord blood stem cells were transplanted into him by intravenous injection",
"Cyclosporin A, meth... | null | [
"dystrophin expression",
"dystrophin protein expression",
"The white blood cells (WBC) of peripheral blood decreased gradually to zero after pretreatment",
"the neutrophil increased to 0.5x 10(9)/L",
"WBC increased to normal level",
"Blood platelet was more than 20x 10(9)/L",
"rapid growth of neutrophil... | [
"could not walk for 3 years",
"no other chronic disease",
"no grafe versus host reaction"
] |
duchenne:16077730 | Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. | [
"Although Becker muscular dystrophy (BMD; MIM 300376) is mainly caused by gross deletions of the dystrophin gene, the nature of the mutations involved in the remaining cases is of importance because of the milder clinical course of Becker. We have extensively characterized the mRNA changes associated with five nove... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although \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: ... | [
"Becker muscular dystrophy (BMD",
"Becker",
"Becker",
"Becker",
"Becker"
] | [
"gross deletions of the dystrophin gene",
"mRNA changes",
"novel point mutations",
"alterations in splicing",
"exon skipping, leading to an in-frame deletion (c.1603-2A>C and c.4250T>A)",
"intronic mutations (c.4519-5C>G and c.961-5925A>C)",
"complex splicing changes",
"c.10412T>A (p.Leu3471X), result... | null | null | null | [
"detection of a low amount of dystrophin",
"reduced efficiency of nonsense-mediated decay"
] | null |
duchenne:19468633 | Anesthesia for Duchenne muscular dystrophy patients: case reports. | [
"Reporting two cases of anesthesia in Duchenne Muscular Dystrophy (DMD) patients, which is an uncommon, progressive and disabling disease, and discussing anesthetic approaches, impairment of pulmonary and cardiac functions, the possibility of malignant hyperthermia, increased sensitivity to neuromuscular blockers a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Reporting two cases 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 anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne Muscular Dystrophy (DMD)",
"DMD",
"rhabdomyosarcoma",
"DMD",
"cholelithiasis",
"DMD"
] | null | [
"impairment of pulmonary and cardiac functions",
"malignant hyperthermia",
"increased sensitivity to neuromuscular blockers",
"increased postoperative morbidity",
"cervical tumor",
"severe restrictive pneumopathy",
"decreased capacity and respiratory reserves"
] | [
"anesthesia",
"anesthetic approaches",
"tumor excision",
"cervical emptying",
"total intravenous anesthesia with remifentanil administered by continuous infusion and propofol by target-controlled infusion without neuromuscular blockers",
"Surgery lasted 180 minutes",
"surgical indication",
"need for n... | null | null | [
"no changes were detected",
"without intercurrences"
] |
duchenne:16025401 | Novel mutation (Gly280Ala) in the ATP-binding domain of glycerol kinase causes severe hyperglycerolemia. | [
"Glycerol kinase deficiency is a rarely diagnosed X-linked recessive disorder which occurs as a complex form together with the adrenal hypoplasia congenita (AHC) or with Duchenne muscular dystrophy (DMD) or as an isolated form either symptomatic or asymptomatic. We report the case of a male adult who had pseudo-hyp... | [
"<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 Glycerol kinase deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"adrenal hypoplasia congenita (AHC)",
"Duchenne muscular dystrophy (DMD)"
] | [
"X-linked recessive disorder",
"novel missense mutation Gly280Ala in the Xp21.3 glycerol kinase gene",
"mutation affects a highly conserved amino acid in an ATP-binding domain in the active centre"
] | null | null | null | [
"Glycerol kinase deficiency",
"pseudo-hypertriglyceridemia",
"falsely elevated triglycerides of 552 mg/dl)",
"isolated, asymptomatic glycerol kinase deficiency",
"destabilize a hydrogen bond between ligand and enzyme",
"reduced activity of glycerol kinase",
"hyperglycerolemia"
] | [
"asymptomatic",
"refractory to lipid-lowering therapy for more than 15 years"
] |
duchenne:16019212 | Tracheoinnominate fistula in a Duchenne muscular dystrophy patient: successful management with an endovascular stent. | [
"Tracheoinnominate fistula is a rare but often fatal complication occurring in Duchenne Muscular Dystrophy (DMD) patients with long-term tracheostomy. We report a 16-year-old boy with DMD who developed a fistula causing massive haemorrhage 26 months after tracheostomy. Due to the high risk of perioperative complica... | [
"<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 Tracheoinnominate fistula\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne Muscular Dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"Tracheoinnominate fistula",
"fistula causing massive haemorrhage",
"perioperative complications"
] | [
"long-term tracheostomy",
"tracheostomy",
"minimally invasive technique with placement of an endovascular stent grafting the innominate artery",
"endovascular repair of tracheoinnominate fistula",
"by stent grafting",
"tracheostomised"
] | null | null | null |
duchenne:15997348 | Midwall myocardial fibrosis in Becker-Kiener muscular dystrophy. | [
"We report on a 38- year-old man with Becker-Kiener muscular dystrophy (BMD) and dilated cardiomyopathy without clinical symptoms of congestive heart failure who was referred for risk evaluation of sudden cardiac death. The degree of cardiac involvement in BMD varies greatly from no or hardly any cardiac abnormalit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 38- year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Becker-Kiener muscular dystrophy (BMD)",
"dilated cardiomyopathy",
"BMD"
] | null | [
"sudden cardiac death",
"cardiac involvement",
"severe arrhythmias",
"dilatative cardiomyopathy",
"heart failure",
"sudden cardiac death",
"cardiac abnormalities",
"areas of myocardial fibrosis",
"extensive areas of fibrosis",
"cardiac involvement"
] | [
"heart transplantation"
] | null | null | [
"without clinical symptoms of congestive heart failure",
"no or hardly any cardiac abnormality"
] |
duchenne:15986277 | [Surgical treatment of acquired myogenic eyelid ptosis]. | [
"To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction.",
"The clinical records of two patients with acquired myogenic eyelid ptosis after surgical correction were reviewed.",
"In two patients with acquired my... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the surgical outcome 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 aponeurosis surgery\n <span style=\"font-size: 0.8em; font-weight: bold;... | null | null | [
"acquired myogenic eyelid ptosis",
"acquired myogenic eyelid ptosis",
"acquired myogenic eyelid ptosis",
"Corneal complications",
"acquired myogenic eyelid ptosis",
"post-operative surgical complications from corneal exposure"
] | [
"aponeurosis surgery",
"surgical correction",
"levator resection surgery",
"Surgical correction",
"conservative"
] | null | null | [
"barely good levator function"
] |
duchenne:15979033 | A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro. | [
"The splicing pattern of pre-mRNA is unpredictable in genes harboring a single-nucleotide change within the consensus sequence of a splice-donor site. In the dystrophin gene, a transition from G to A at the fifth position of intron-32 (4518+5G > A) has been reported as a polymorphism within the consensus sequence o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The splicing pattern of pre-mRNA is unpredictable in genes harboring 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 single-nucleotide change within the co... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"single-nucleotide change within the consensus sequence of a splice-donor site",
"dystrophin gene",
"transition from G to A at the fifth position of intron-32 (4518+5G > A)",
"polymorphism within the consensus sequence",
"inactivation of the splice-",
"novel dystrophin mRNAs",
"with a 98 bp deletion of ... | null | null | [
"Japanese"
] | null | null |
duchenne:15960054 | The interface of genomic technologies and nursing. | [
"(a) to summarize views of the interface of technology, genomic technology, and nursing; (b) provide an overview of current and emerging genomic technologies; (c) present clinical exemplars of uses of genomic technology in two disease conditions; and (d) list genomic-focused nursing research on genomic technologies... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">(a) to summarize views of the interface of technology, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genomic technology\n <span style=\"font-size: 0.8em... | null | null | null | [
"genomic technology",
"genomic technology",
"genomic technologies",
"genomic technologies"
] | null | null | null |
duchenne:15949330 | [Allogeneic umbilical cord blood stem cell transplantation in Duchenne muscular dystrophy]. | [
"To study the feasibility of treatment of Duchenne muscular dystrophy (DMD) with umbilical cord stem cell transplantation.",
"HLA matching was conducted for a 11-year-old DMD boy with family history was underwent umbilical cord blood stem cell transplantation and a sample of umbilical cord stem cells with 5 match... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To study the feasibility of treatment 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: 0.8e... | [
"Duchenne muscular dystrophy (DMD)",
"Budd-Chiari syndrome",
"cytomegalovirus infection",
"DMD",
"DMD"
] | [
"gene type of the patient was mixed mosaic",
"ratio of donor gradually increased from 40% approximately 45% to 55% approximately 65%",
"genotype of rebuilt blood is mosaic but the ratio of gene mosaic gradually turn from recipient gene type > donor gene type to recipient gene type < donor gene type"
] | [
"graft versus host reaction",
"I degrees GVHD appeared",
"obviously improvement in walking, turning the body over, and standing up",
"re-build blood-making function",
"improve locomotive function",
"mild GVHD reaction"
] | [
"with umbilical cord stem cell transplantation",
"umbilical cord blood stem cell transplantation",
"sample of umbilical cord stem cells with 5 matched HLA sites was found in the cord blood bank with 27.32 x 10(8) nucleated cells, about 2.6 times that of the treatment dosage",
"pretreatment with busulfan 14 mg... | null | [
"the white blood cells (WBC) of peripheral blood were 0.5 x 10(9)/L",
"the numbers of WBC and neutrophils were 1.0 x 10(9)/L and 0.6 x 10(9)/L respectively",
"number of blood platelets was more than 20 x 10(9)/L",
"serum CK level decreases significantly"
] | null |
duchenne:15938574 | Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. | [
"Out of 10 autosomal recessive limb-girdle muscular dystrophies reported, 4 are caused by mutations in the genes encoding for sarcoglycans (alpha-, beta-, gamma- and delta-SG). Beta-sarcoglycanopathy (limb-girdle muscular dystrophy 2E) is a genetically heterogeneous disorder which usually presents a severe progress... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Out of 10 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autosomal recessive\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"limb-girdle muscular dystrophies",
"Beta-sarcoglycanopathy (limb-girdle muscular dystrophy 2E)",
"beta-sarcoglycanopathy",
"severe limb-girdle muscular dystrophy"
] | [
"autosomal recessive",
"mutations in the genes encoding for sarcoglycans (alpha-, beta-, gamma- and delta-SG)",
"genetically heterogeneous disorder",
"homozygosis for the M100K missense mutation in exon 3, encoding for the proximal extracellular domain",
"Missense mutations affecting this domain",
"non-se... | [
"severe progressive clinical course",
"with a Duchenne-like phenotype",
"dystrophic changes"
] | null | [
"Spanish"
] | null | null |
duchenne:15921812 | Rapid progression from hypertrophic cardiomyopathy to heart failure in a patient with Becker's muscular dystrophy. | [
"We describe the case of a 17-year-old boy with Becker's muscular dystrophy (BMD) presenting with rapid progression from hypertrophic cardiomyopathy to heart failure within 2 years. Initial echocardiogram showed severe hypertrophy of left ventricle (LV) and right ventricle (RV) with normal chamber size, and preserv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 17-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Becker's muscular dystrophy (BMD)",
"BMD"
] | null | [
"rapid progression from hypertrophic cardiomyopathy",
"heart failure",
"severe hypertrophy of left ventricle (LV) and right ventricle (RV)",
"marked dilated LV and RV",
"severe LV global hypokinesia"
] | null | null | null | [
"normal chamber size",
"preserved LV systolic function"
] |
duchenne:15898529 | Worsening of heart failure in Becker muscular dystrophy after nonsteroidal anti-inflammatory drugs. | [
"A 40-year-old male with Becker muscular dystrophy and cardiac involvement was stable in New York Heart Association class II for 7 years. He then had arthralgia caused by bilateral gonarthrosis. He received diclofenac 100 mg/d and 500 mg/d mephenamine acid. Six weeks later, he was hospitalized because of heart fail... | [
"<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 40-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | null | [
"cardiac involvement",
"stable in New York Heart Association class II for 7 years",
"arthralgia",
"bilateral gonarthrosis",
"heart failure (New York Heart Association class IV)",
"biatrial and biventricular dilation",
"left ventricular end-diastolic diameter of 82 mm",
"ejection fraction of 26%",
"s... | [
"received diclofenac 100 mg/d and 500 mg/d mephenamine acid",
"physiotherapy and equipment with a corset",
"treatment with parenteral diuretics",
"Nonsteroidal anti-inflammatory drugs"
] | null | null | [
"Nonsteroidal anti-inflammatory drugs were discontinued"
] |
duchenne:15860922 | Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. | [
"X-linked adrenal hypoplasia congenita (AHC) is a condition clinically featuring adrenal insufficiency and hypogonadotropic hypogonadism caused by mutations of DAX-1. This study was undertaken to characterize the molecular defects of DAX-1 in 3 unrelated Korean patients with AHC.",
"Patient 1 is a 6-year-old boy ... | [
"<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 X-linked adrenal hypoplasia congenita (AHC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"AHC",
"aspiration pneumonia",
"Xp21 contiguous gene syndrome",
"AHC",
"Xp21 contiguous gene syndrome",
"Duchenne muscular dystrophy",
"AHC"
] | [
"X-linked adrenal hypoplasia congenita (AHC)",
"mutations of DAX-1",
"molecular defects of DAX-1",
"two novel mutations, 1156_1157delCT",
"novel nonsense mutation W105X",
"complete deletion of DAX-1",
"deletions of the entire IL1RAPL, GK genes and the C-terminal region of DMD gene",
"Two novel mutatio... | [
"adrenal insufficiency",
"hypogonadotropic hypogonadism",
"salt-losing adrenal crisis",
"adrenal insufficiency",
"adrenal crisis"
] | null | [
"Korean"
] | [
"serum transaminases and creatine kinase levels were elevated",
"the glycerol kinase activity of leukocytes was decreased",
"Markedly elevated glycerol excretion was detected",
"urine organic acid analysis",
"glycerol kinase deficiency"
] | null |
duchenne:15859443 | Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy. | [
"Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continu... | [
"<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 Progressive muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Progressive muscular dystrophy",
"progressive muscular dystrophy",
"progressive muscular dystrophy",
"Becker muscular dystrophy",
"Fukuyama type congenital muscular dystrophy",
"progressive muscular dystrophy",
"progressive type muscular dystrophies",
"Duchenne muscular dystrophy",
"Becker muscular... | null | [
"abnormal reactions to several drugs",
"mental retardation",
"slight mental retardation"
] | [
"continuous infusion of propofol",
"anesthetized with a continuous infusion of propofol",
"dental treatment",
"general anesthesia",
"General anesthesia",
"maintained by a continuous infusion of 6-10 mg/kg propofol per hour and an inhalational mixture of 67% nitrous oxide and 33% oxygen",
"dental treatme... | null | [
"serum levels of creatine phosphokinase and myoglobin decreased"
] | [
"No complications were observed",
"No complications were observed",
"not cause malignant hyperthermia"
] |
duchenne:15832620 | Depressed left ventricular contractile reserve diagnosed by dobutamine stress echocardiography in a patient with Duchenne muscular dystrophy. | [
"Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrat... | [
"<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 Cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Cardiomyopathy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"death",
"Congestive heart failure",
"severe physical limitations",
"depressed left ventricular contractile reserve",
"subclinical heart failure"
] | null | null | null | [
"normal left ventricular systolic function at rest"
] |
duchenne:15795967 | Scoliosis in Steinert syndrome: a case report. | [
"Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome.",
"We present a patient with Steinert syndrome complicated by... | [
"<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 Steinert syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Steinert syndrome",
"Steinert syndrome",
"scoliosis",
"muscular dystrophy",
"Duchenne",
"scoliosis",
"Steinert syndrome",
"Steinert myotonic dystrophy",
"Scoliosis",
"Steinert syndrome"
] | [
"autosomal dominant"
] | [
"progressive muscular wasting",
"myotonia",
"musculoskeletal manifestations",
"rare spinal defects",
"spinal deformity",
"thoracic scoliosis",
"hypokyphosis",
"King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees)",
"hypokyphosis--10 degrees",
"well balanced",
"solid spine fus... | [
"posterior stabilization and instrumentation at level T3-L2",
"postoperative correction of the scoliotic curve to 20 degrees",
"extensive soft tissue release",
"optimal surgical correction"
] | null | null | [
"clinically pain free",
"no loss of deformity correction",
"difficult recovery from anaesthesia"
] |
duchenne:15776737 | [Delayed onset malignant hyperthermia after a closure of ventricular septal defect]. | [
"An 18 month-old girl was diagnosed as ventricular septal defect (VSD) with mild aortic valve prolapse. She underwent a closure of VSD. Intra-and early postoperative course was uneventful. However, 20 hours after surgery, sudden bradycardia led to cardiac arrest and strong muscle rigidity was seen. Hyperkalemia and... | [
"<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 18 month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"delayed onset malignant hyperthermia",
"rhabdomyolysis",
"Duchenne type muscular dystrophy carrier",
"Delayed onset malignant hyperthermia",
"myopathy"
] | null | [
"ventricular septal defect (VSD)",
"mild aortic valve prolapse",
"sudden bradycardia",
"cardiac arrest",
"strong muscle rigidity",
"died",
"multiple organ failure"
] | [
"closure of VSD",
"surgery",
"Extracorporeal life support and continuous hemodialysis",
"general anesthesia",
"surgery"
] | null | [
"Hyperkalemia",
"metabolic acidosis"
] | [
"uneventful",
"resuscitation was failed"
] |
duchenne:15728050 | Hyperkalemic cardiac arrest after cardiopulmonary bypass in a child with unsuspected duchenne muscular dystrophy. | [
"Adverse reactions to volatile anesthetics and depolarizing muscle relaxants can occur in patients with Duchenne muscular dystrophy (DMD) resulting in acute rhabdomyolysis and hyperkalemia. We report a case of hyperkalemic cardiac arrest after cardiac surgery using cardiopulmonary bypass in a child with unsuspected... | [
"<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 Adverse reactions to volatile anesthetics\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"Adverse reactions to volatile anesthetics",
"acute rhabdomyolysis",
"hyperkalemic cardiac arrest",
"unexplained motor delay"
] | [
"depolarizing muscle relaxants",
"cardiac surgery using cardiopulmonary bypass"
] | null | [
"hyperkalemia",
"hyperkalemia"
] | [
"unsuspected DMD"
] |
duchenne:15696483 | [Clinical pathologic studies and genetic analysis of a female Duchenne muscular dystrophy family]. | [
"To investigate the clinical features of female Duchenne muscular dystrophy(DMD), and find out the onset mechanism.",
"The clinical manifestations of a female DMD family were followed; the immunofluorescence studies on muscle system and the genetic analysis were carried out.",
"The clinical manifestations and r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate the clinical features 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Duchenne muscular dystrophy(DMD)",
"DMD",
"DMD",
"DMD"
] | [
"non-deletions",
"skewed pattern of X inactivation"
] | [
"clinical feature resembling that of Becker muscular dystrophy (BMD)",
"clinical manifestations were similar to BMD"
] | null | null | null | [
"mother's karyotype was found to be normal",
"karyotype is normal"
] |
duchenne:15684452 | Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. | [
"Complex glycerol kinase deficiency (GKD) results from the contiguous deletion on Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita (AHC) and /or Duchenne muscular dystrophy (DMD). The authors present the case of a newborn whose initial issues were refractory hy... | [
"<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 (GKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Complex glycerol kinase deficiency (GKD)",
"adrenal hypoplasia congenita (AHC)",
"Duchenne muscular dystrophy (DMD)"
] | [
"contiguous deletion on Xp21 of all or part of the gene for glycerol kinase",
"contiguous Xp21 deletion"
] | null | [
"steroid supplementation",
"correction of hypoglycaemia",
"low fat diet",
"steroid replacement"
] | null | [
"refractory hypoglycaemia",
"hyponatremia",
"hyperkalemia",
"low serum cortisol levels",
"raised urinary excretion of glycerol",
"dyselectrolytemia"
] | [
"creatinine phosphokinase (CPK) levels were normal"
] |
duchenne:15627543 | Anaesthetic management during labour of a manifesting carrier of Duchenne muscular dystrophy. | [
"We describe the peripartum anaesthetic management of a 36-year-old woman who was a manifesting carrier of Duchenne muscular dystrophy. Duchenne muscular dystrophy is an X-linked recessive disorder affecting young males associated with severe complications during anaesthesia if depolarising neuromuscular blocking d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 peripartum anaesthetic management\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"X-linked recessive disorder",
"heterozygous",
"skewed X-inactivation"
] | [
"severe complications",
"fetal distress"
] | [
"peripartum anaesthetic management",
"anaesthesia",
"depolarising neuromuscular blocking drugs and volatile agents",
"regional anaesthesia",
"operation",
"labour or delivery",
"propofol total intravenous anaesthesia and rocuronium",
"37 weeks",
"went into spontaneous labour",
"caesarean section",
... | null | null | [
"general anaesthesia became unavoidable"
] |
duchenne:15578616 | Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). | [
"OTC deficiency, the most common urea cycle defect, is transmitted as a partially dominant X-linked trait. The most severe form of the disease, however, is usually restricted to males. We report on monozygotic female twins with severe neonatal-onset OTC deficiency and a de novo balanced reciprocal translocation t(X... | [
"<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 OTC deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Duchenne muscular dystrophy"
] | [
"transmitted as a partially dominant X-linked trait",
"de novo balanced reciprocal translocation t(X;5)(p21.1;q11)",
"Disruption of the OTC gene on the derivative X-chromosome",
"Consistent inactivation of the normal X",
"X-linked recessive disorders",
"balanced reciprocal X-autosome translocation"
] | null | null | null | [
"OTC deficiency",
"urea cycle defect",
"severe neonatal-onset OTC deficiency",
"OTC deficiency",
"severe OTC deficiency"
] | null |
duchenne:15569563 | Duchenne muscular dystrophy with associated growth hormone deficiency. | [
"A patient with Duchenne muscular dystrophy (DMD) and growth hormone (GH) deficiency is described who had no clinical evidence of muscular weakness before initiation of GH replacement therapy. Treatment with human GH resulted in appearance of symptoms of easy fatigability and proximal muscle weakness. Thorough inve... | [
"<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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Duchenne muscular dystrophy (DMD)"
] | null | [
"symptoms of easy fatigability",
"proximal muscle weakness"
] | [
"Treatment with human GH",
"GH replacement therapy"
] | null | [
"growth hormone (GH) deficiency",
"GH deficiency"
] | [
"no clinical evidence of muscular weakness",
"initiation of GH replacement therapy"
] |
duchenne:15565644 | Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome. | [
"We report on a prenatal diagnosis of DMD complicated by a 45,X karyotype that was revealed only in the chorionic villus long-term culture.",
"Cytogenetic investigations were performed on both short-term (STC) and long-term cultures (LTC) of the chorionic villus sample. Familial segregation was performed using a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 prenatal diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"prenatal diagnosis",
"DMD"
] | [
"45,X karyotype",
"exonic deletion",
"45,X/46,XX mosaicism",
"loss of heterozygosity for the STR49 marker in the DNA of the proband, her mother and the foetus",
"deletion of exon 50.",
"monosomy X associated with a DMD genotype"
] | null | null | null | null | [
"normal karyotype 46,XX"
] |
duchenne:15527326 | Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene. | [
"Approximately one-third of new cases of Duchenne muscular dystrophy (DMD) can be attributed to sporadically arising new mutations, however in the majority of cases the DMD mutation has been inherited from the mother. These female carriers can have either a constitutive or mosaic mutation.",
"The aim of this stud... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Approximately one-third of new cases 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: 0.8em... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"sporadically arising new mutations",
"constitutive or mosaic mutation",
"segregation of the at-risk haplotype",
"deletion in the dystrophin gene",
"hidden germline mosaicisms"
] | null | [
"genetic counseling"
] | null | null | null |
duchenne:15371569 | C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene. | [
"Mutations that cause premature stop codons in the dystrophin gene lead to a complete loss of dystrophin from skeletal muscle, resulting in severe Duchenne muscular dystrophy. Here, a C-terminally truncated dystrophin resulting from a novel nonsense mutation is shown for the first time to be localized to the muscle... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Mutations that cause \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n premature stop codons in the dystrophin gene\n <span style=\"font-size: 0.8em; font-w... | [
"severe Duchenne muscular dystrophy",
"asymptomatic dystrophinopathy"
] | [
"premature stop codons in the dystrophin gene",
"novel nonsense mutation",
"novel nonsense mutation (Q3625X) as a result of a single nucleotide change in the patient's genomic DNA (C10873T)",
"leaving 1.6% of dystrophin gene product unsynthesized at the C terminus",
"nonsense mutation in the dystrophin gene... | [
"weak, patchy, and discontinuous staining"
] | null | null | [
"complete loss of dystrophin from skeletal muscle",
"C-terminally truncated dystrophin",
"high serum creatine kinase activity",
"limited production of a truncated form of the protein"
] | [
"asymptomatic",
"no dystrophin labeling was seen with an MAb against the C-terminal domain, suggesting the presence of an early stop codon in the dystrophin gene",
"did not show rescue of the nonsense mutation as a result of exon-skipping by an alternative splicing mechanism"
] |
duchenne:15319032 | Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon. | [
"Editing of dystrophin mRNA by induction of exon skipping, using antisense oligonucleotides, has been proposed as one way to generate dystrophin expression in Duchenne muscular dystrophy (DMD) patients. Here, antisense chimeric oligonucleotides consisting of RNA and a new modified nucleic acid are tested for activi... | [
"<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 Editing of dystrophin mRNA\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"Editing of dystrophin mRNA",
"skipping of an exon containing a nonsense mutation",
"nonsense mutation (R1967X) due to a single nucleotide change in exon 41 of the dystrophin gene (C5899T)",
"mutation site of exon 41",
"exon 41 skipping in dystrophin mRNA",
"inducing exon 41 skipping in nearly 90% of dyst... | null | [
"induction of exon skipping",
"antisense oligonucleotides",
"dystrophin expression",
"antisense chimeric oligonucleotides consisting of RNA and a new modified nucleic acid",
"Oligonucleotides consisting of 2'-O-methyl RNA and a new 2'-O,4'-C-ethylene-bridged nucleic acid (ENA)",
"18-mer RNA/ENA chimera",
... | [
"Japanese"
] | null | null |
duchenne:15310728 | Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. | [
"Becker muscular dystrophy is a rare cause of dilated cardiomyopathy. A case of Becker muscular dystrophy is reviewed in which cardiovascular magnetic resonance showed previously unreported findings of extensive mid-myocardial late gadolinium enhancement. Similar detection of late gadolinium enhancement in conjunct... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Becker muscular dystrophy",
"dilated cardiomyopathy",
"Becker muscular dystrophy"
] | null | [
"extensive mid-myocardial late gadolinium enhancement",
"late gadolinium enhancement"
] | null | null | null | null |
duchenne:15283161 | [Detection of micro mutation in dystrophin gene of DMD female carrier]. | [
"We attempted to identify a mutation in dystrophin gene in a female patient who was suspected a Duchenne muscular dystrophy (DMD) carrier with muscle weakness of upper limbs and congestive heart failure. We examined the mutation hot spots in DMD gene, exon 3, 6, 8, 13, 17, 19, 43, 44, 45, 47, 48, 49, 50, 52, 60 by ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We attempted to identify 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 mutation in dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"mutation in dystrophin gene",
"mutation hot spots in DMD gene, exon 3, 6, 8, 13, 17, 19, 43, 44, 45, 47, 48, 49, 50, 52, 60",
"extra band in exon 43 product",
"extra band in exon 43 products",
"small mutations",
"allele having the insertion of a 2 base of AT in Intron42",
"abnormal splicing"
] | [
"muscle weakness of upper limbs",
"congestive heart failure"
] | null | null | null | [
"could not be detected by multiplex PCR",
"without genetic information of proband"
] |
duchenne:15221888 | A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy. | [
"One challenge in the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is detection of a low percentage of mutant heteroplasmy. We report a patient who had a delayed molecular diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome due to the complication of a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One challenge 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 molecular diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"mitochondrial DNA (mtDNA) disorders",
"mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes",
"MELAS) syndrome",
"Duchenne muscular dystrophy",
"mitochondrial disorder"
] | null | null | null | null | [
"low percentage of mutant heteroplasmy",
"low degree of A3243G heteroplasmy was detected in several tissues"
] | [
"failure to detect a low proportion of mutant A3243G mtDNA",
"despite the family background of another neuromuscular disease"
] |
duchenne:15213482 | Ventilator weaning by lung expansion and decannulation. | [
"This case series of ventilator-dependent patients with neuromuscular disease who had no ventilator-free breathing ability demonstrates that decannulation and switching to continuous noninvasive intermittent positive-pressure ventilation combined with regular lung expansion therapy can result in improvements in pul... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case series 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 ventilator-dependent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"neuromuscular disease",
"neuromuscular disease"
] | null | [
"improvements in pulmonary function",
"partial ventilator weaning"
] | [
"ventilator-dependent",
"decannulation",
"switching to continuous noninvasive intermittent positive-pressure ventilation combined with regular lung expansion therapy",
"mechanical insufflation-exsufflation for regular lung expansion and cough assistance",
"ventilator users",
"tracheostomy tube decannulati... | null | null | [
"no ventilator-free breathing ability"
] |
duchenne:15171581 | An automatic hinge system for leg orthoses. | [
"This paper describes a new automatic hinge system for leg orthoses, which provides knee stability in stance, and allows knee-flexion during swing. Indications for the hinge system are a paresis or paralysis of the quadriceps muscles. Instrumented gait analysis was performed in three patients, fitted with this new ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper describes a new \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n automatic hinge system for leg orthoses\n <span style=\"font-size: 0.8em; font-... | null | null | [
"paresis or paralysis of the quadriceps muscles"
] | [
"automatic hinge system for leg orthoses",
"knee stability in stance",
"knee-flexion during swing",
"hinge system",
"fitted with this new hinge system in a knee orthosis",
"orthosis"
] | null | null | [
"without a knee-lock system"
] |
duchenne:15158318 | [Report of four women with Duchenne or Becker muscular dystrophy]. | [
"Duchenne and Becker muscular dystrophy are X-linked and affect mainly males. The authors report four female cases.",
"Four patients presented muscular deficiency predominant to lower limbs and chronic disease. Female distrophinopathy is understandable by three mechanisms: Turner's syndrome, translocation X-chrom... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne",
"and Becker muscular dystrophy",
"chronic disease",
"Turner's syndrome",
"Duchenne",
"Becker muscular dystrophy"
] | [
"X-linked",
"translocation X-chromosome with an autosome",
"skewed X-chromosome inactivation"
] | [
"muscular deficiency predominant to lower limbs",
"distrophinopathy"
] | null | null | null | null |
duchenne:15145335 | Pneumothorax associated with long-term non-invasive positive pressure ventilation in Duchenne muscular dystrophy. | [
"Long-term non-invasive positive pressure ventilation (NPPV) is effective for improving the quality of life and survival of neuromuscular patients. This treatment is usually easy to administer and severe complications have rarely been reported. We describe two cases in which the development of pneumothorax was asso... | [
"<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 Long-term non-invasive positive pressure ventilation (NPPV)\n <span style=\"font-size: 0.8em; font-weight:... | [
"neuromuscular",
"pneumothorax",
"Duchenne muscular dystrophy"
] | null | [
"severe complications"
] | [
"Long-term non-invasive positive pressure ventilation (NPPV)",
"long-term NPPV",
"chronic NPPV"
] | null | null | null |
duchenne:15118904 | An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype. | [
"Duchenne and Becker Muscular Dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene (DMD). Here we describe the unprecedented case of a BMD patient carrying a large out-of-frame intragenic deletion, together with an inversion in the DMD gene, resulting in the inclusion of... | [
"<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 and BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Duchenne and Becker Muscular Dystrophy (DMD and BMD)",
"BMD"
] | [
"deletions in the dystrophin gene (DMD)",
"large out-of-frame intragenic deletion, together with an inversion in the DMD gene",
"inclusion of a novel exon in the transcript",
"presence of a 48-52 exon deletion",
"mRNA derived from the juxtaposition of exons 47-54 (in-frame)",
"inclusion of a novel 73-bp e... | null | null | null | null | [
"routine DNA screenings",
"do not follow the reading-frame rule"
] |
duchenne:15098601 | Subclinical Becker's muscular dystrophy presenting with severe heart failure. | [
"We describe a rare case of Becker's muscular dystrophy (BMD) in a 28-year-old man complicated by rapidly progressing heart failure without apparent clinical signs of neuromuscular disease. He showed rhabdomyolysis, which repeatedly occurred causing acute renal failure as heart failure worsened. His serum creatine ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 Becker's muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight... | [
"Becker's muscular dystrophy (BMD)",
"rhabdomyolysis",
"rhabdomyolysis",
"BMD",
"BMD"
] | null | [
"rapidly progressing heart failure",
"acute renal failure",
"heart failure",
"worsening of heart failure",
"heart failure"
] | null | null | [
"it exceeded more than 10,000 IU/l at",
"myoglobinuria",
"elevation of serum CK"
] | [
"without apparent clinical signs of neuromuscular disease"
] |
duchenne:15098362 | [Cerebral embolism associated with Becker muscular dystrophy-related dilated cardiomyopathy]. | [
"A 65-year-old man with previous history of congestive heart failure and genetically proven Becker muscular dystrophy (BMD) was suddenly suffered from aphasia and right hemiplegia. Physical examination showed severe motor aphasia, right hemiplegia, and signs of left heart failure. An echocardiogram before the onset... | [
"<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 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy (BMD)",
"associated with BMD-related DCM",
"BMD"
] | null | [
"congestive heart failure",
"aphasia",
"right hemiplegia",
"severe motor aphasia",
"right hemiplegia",
"signs of left heart failure",
"aphasia",
"markedly dilated left ventricle",
"decreased ventricular contraction",
"atrial fibrillation",
"neurological deterioration",
"acute infarction in the... | [
"administration of anti-coagulant, diuretics, and dopamine"
] | null | null | [
"Intracardiac thrombus was not detected",
"electrocardiogram on admission showed sinus rhythm"
] |
duchenne:15054717 | [Repeated cerebral infarction in a patient with Duchenne's muscular dystrophy]. | [
"We describe a case of Duchenne muscular dystrophy (DMD) with multiple strokes related to dilated cardiomyopathy.",
"A 13 year old boy, with advanced stage DMD was admitted to the hospital because of acute motor and sensory impairment in his right bodyside. Imaging study revealed lesions in basal ganglia and prer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Duchenne muscular dystrophy (DMD)",
"advanced stage DMD",
"cardiomyopathy",
"DMD",
"dilated cardiomyopathy"
] | null | [
"multiple strokes related to dilated cardiomyopathy",
"acute motor and sensory impairment in his right bodyside",
"lesions in basal ganglia and prerolandic cortex in the left hemisphere",
"infarcts in the territory of the medial cerebral artery",
"dilation of the left ventriculi",
"systolic dysfunction wi... | [
"Early treatment",
"antithrombotic agents"
] | null | null | null |
duchenne:15014960 | Urinary incontinence in a patient with Duchenne muscular dystrophy and cord in the normal position with fatty filum terminale. | [
"To our knowledge, muscular dystrophy and specifically, Duchenne muscular dystrophy, has not previously been associated with gross intrathecal abnormalities.",
"We report a pediatric patient with Duchenne muscular dystrophy that was diagnosed a long time ago and recent onset urinary incontinence. MRI revealed a c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To our knowledge, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"muscular dystrophy"
] | null | [
"gross intrathecal abnormalities",
"recent onset urinary incontinence",
"fatty-infiltrated filum terminale",
"resolution of the child's urinary incontinence",
"new, unusual neurological deficits",
"especially of an upper motor neuron nature"
] | [
"Operative intervention",
"entailing sectioning of the filum terminale"
] | null | null | [
"conus medullaris in a normal position",
"rule out pathology of the spinal cord such as tethering"
] |
duchenne:15009558 | Complex glycerol kinase deficiency leads to psychomotor and body-growth failure. | [
"Complex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenital. We describe a follow-up patient with complex glycerol kinase deficiency who had appropriate intrauterine development, but who at 1 month of age manifested severe growt... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Complex glycerol kinase deficiency",
"Duchenne muscular dystrophy",
"complex glycerol kinase deficiency"
] | null | [
"adrenal hypoplasia congenital",
"appropriate intrauterine development",
"severe growth delay",
"psychomotor retardation",
"bodyweight and height were below the 3rd centile until 8 years of age"
] | null | null | [
"glycerol kinase deficiency"
] | [
"Targeted therapy did not bring about the regression of symptoms"
] |
duchenne:14989756 | Orthodontic treatment of a case of Becker muscular dystrophy. | [
"Becker muscular dystrophy, similar to Duchenne muscular dystrophy, is a X-chromosomal linked anomaly characterized by progressive muscle wasting and weakness. Duchenne-type is known to have severe openbite with a steep mandibular plane, but there are no studies that describe the occlusal and skeletal patterns of 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 Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Becker muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne-type",
"Becker-type",
"Becker muscular dystrophy"
] | [
"X-chromosomal linked anomaly"
] | [
"progressive muscle wasting",
"weakness",
"severe openbite with a steep mandibular plane",
"severe skeletal open bite",
"open bite was corrected",
"contact between the anterior teeth was maintained 8 months after active treatment"
] | [
"orthodontic treatment",
"Multiloop edgewise archwires were employed for orthodontic treatment",
"3 years and 8 months",
"retention period"
] | null | null | [
"general anesthesia or orthognathic surgery",
"was not an option",
"despite a marked relapse tendency"
] |
duchenne:14961551 | Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein. | [
"Almost all of the thousands of pathogenic mutations which have been described in the dystrophin gene either reduce protein production or remove large regions of the protein. This has severely limited the use of mutational information for the functional dissection of the dystrophin protein and increases the value o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Almost all of the thousands of pathogenic mutations which have been described 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 dystrophin gene\n <sp... | [
"Duchenne muscular dystrophy"
] | [
"dystrophin gene",
"remove large regions of the protein",
"3-bp deletion which removes a single highly conserved residue (glutamic acid 3367) adjacent to the dystrophin ZZ domain",
"missense mutations (both affecting nearby residues)",
"E3367del"
] | [
"severe phenotype"
] | null | null | [
"reduce protein production",
"high protein level"
] | null |
duchenne:14713321 | Non-operative treatment for perforated gastro-duodenal peptic ulcer in Duchenne muscular dystrophy: a case report. | [
"Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients. However an acute perforated gastro-duodenal peptic ulcer has not been documented up to now.",
"A 2... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical characteristics and complications 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\n <span style=\"font-size: 0.8em... | [
"Duchenne muscular dystrophy",
"acute perforated gastro-duodenal peptic ulcer",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"perforated gastro-duodenal peptic ulcer",
"Duchenne muscular dystrophy"
] | null | [
"skeletal and cardiac muscle degeneration",
"Gastro-intestinal involvement",
"acute perforated gastro-duodenal peptic ulcer",
"Gastrointestinal involvement"
] | [
"non-operatively with naso-gastric suction and intravenous medication",
"Non-surgical treatment"
] | null | null | [
"non-operative treatment is unsuccessful"
] |
duchenne:14707720 | Becker muscular dystrophy in a patient with Hodgkin's disease. | [
"Genetic disease often predisposes to neoplastic processes because of either alterations in both oncogenes and tumor suppressor genes or imbalances in the cell cycle. The authors present the case of a 15-year-old boy with Hodgkin's disease associated with Becker muscular dystrophy. Becker muscular dystrophy is an X... | [
"<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 Genetic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Hodgkin's disease",
"Becker muscular dystrophy",
"Becker muscular dystrophy",
"neuromuscular disease",
"Duchenne muscular dystrophy",
"Becker muscular dystrophy"
] | [
"Genetic disease",
"alterations in both oncogenes and tumor suppressor genes",
"imbalances in the cell cycle",
"X-linked",
"in-frame mutations in the dystrophin gene"
] | [
"neoplastic processes",
"myopathic process affects the myocardium",
"cardiomyopathy"
] | null | null | null | null |
duchenne:14677314 | Tracheocoele in a Duchenne muscular dystrophy patient. Case report. | [
"Tracheocoele, a congenital or acquired lesion, is rarely detected radiologically and even more rarely diagnosed clinically. This tracheal lesion is characterised by the presence of a single cystic lesion filled with air or a mixture of liquid and air, of extremely variable size, occurring in almost all cases, in a... | [
"<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 Tracheocoele\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy",
"tracheocoele",
"Duchenne muscular dystrophy"
] | null | [
"Tracheocoele",
"tracheal lesion",
"single cystic lesion filled with air or a mixture of liquid and air, of extremely variable size",
"locus minoris resistentiae situated in the right posterolateral portion of the trachea",
"voluminous tracheocoele located in the left paratracheal region",
"extending from... | [
"intermittent positive pressure ventilation via nasal mask",
"local anaesthesia",
"palliative treatment",
"cervical compression bandaging during assisted nasal ventilation",
"prolonged use of a positive pressure respirator"
] | null | null | [
"absence of a significant set of symptoms"
] |
duchenne:14659407 | Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. | [
"In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-frame sequences precisely intercalated between two intact exons of the mature... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In the course 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 mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne and Becker Muscular Dystrophies (DMD/BMD)"
] | [
"additional out-of-frame sequences precisely intercalated between two intact exons of the mature muscle dystrophin mRNA",
"inserts correspond to cryptic exons flanked by one strong and one weak consensus splice site and located in the mid-part of large introns (introns 60, 9, 1M, and 62, respectively)",
"intron... | [
"BMD/intermediate phenotype"
] | null | null | [
"reduced amounts of normally spliced transcript",
"normal dystrophin"
] | [
"without gross gene defect"
] |
duchenne:14627325 | Myocardial cell damage in Duchenne muscular dystrophy. | [
"We report two cases of Duchenne muscular dystrophy that presented with laboratory evidence of acute transient myocardial cell damage. The mechanism for development of cardiomyopathy associated with Duchenne muscular dystrophy is not well understood, and this report raises the possibility that the progressive deter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases 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\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy",
"cardiomyopathy",
"Duchenne muscular dystrophy"
] | null | [
"laboratory evidence of acute transient myocardial cell damage",
"progressive deterioration of cardiac function",
"acute episodes of cell damage"
] | null | null | null | null |
duchenne:14609186 | Different expressions of X-linked cardiomyopathy in monozygotic triplets with Becker's dystrophy. | [
"Cardiac involvement is common in skeletal muscles disorders associated with dystrophin defect. It has been suggested however, that X-linked dilated cardiomyopathies with minimal or absent skeletal disease are distinct entities, resulting from mutations in cardiac-specific regions of dystrophin gene. This study pre... | [
"<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 Cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"skeletal muscles disorders",
"dilated cardiomyopathies",
"Becker's muscular dystrophy"
] | [
"dystrophin defect",
"X-linked",
"mutations in cardiac-specific regions of dystrophin gene"
] | [
"Cardiac involvement",
"minimal or absent skeletal disease",
"phenotypic variability",
"severe peripheral myopathy",
"severe congestive heart failure",
"selective impairment of morphologically and functionally different muscles"
] | null | null | null | [
"No deletion in dystrophin gene was observed"
] |
duchenne:14600829 | Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. | [
"While frame-shift mutations are usually found in Duchenne muscular dystrophy (DMD), in-frame mutations are associated with the less severe phenotype of Becker's muscular dystrophy. Exceptions have been reported in both directions suggesting the existence of modifying genes, which might be helpful for innovation of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n frame-shift mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy (DMD)",
"Becker's muscular dystrophy",
"dystrophy",
"DMD"
] | [
"frame-shift mutations",
"in-frame mutations",
"transcripts over-expressed",
"RAP2B",
"over-expressed 3-20 times in"
] | [
"muscle fibre regeneration",
"cell cycle pathways"
] | null | null | [
"casein kinase 1 alpha 1",
"dynactin 3 light chain",
"core binding factor beta",
"myosin light polypeptide 2",
"Casein kinase 1 and the hypothetical gene",
"Up-regulation of myosin light polypeptide 2",
"Casein kinase 1",
"dynactin",
"core binding factor"
] | null |
duchenne:13679720 | [Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias]. | [
"Several studies have recently highlighted the fact that the clinical involvement in females carrying a mutation in the dystrophin gene could be more frequent than usually thought, suggesting the need of a careful cardiac follow-up. Except for the classical chromosomal rearrangements, it was shown that a bias in th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Several studies have recently highlighted the fact that the clinical involvement in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n females\n <span style=... | [
"dystrophinopathies"
] | [
"mutation in the dystrophin gene",
"chromosomal rearrangements",
"bias in the X chromosome inactivation process",
"duplication of exons 3 to 7 of the dystrophin gene",
"stop mutation was found in exon 52"
] | [
"proximal muscular weakness, increasing for three years",
"proximal muscular weakness for six years"
] | null | null | [
"elevated muscular enzymes in blood"
] | null |
duchenne:13677325 | ST-segment displacement in Duchenne muscular dystrophy: myocardial necrosis or apoptosis? | [
"An electrocardiographic pattern resembling myocardial infarction is a rare condition in Duchenne muscular dystrophy. We report the case of a Duchenne boy, aged 12 years and 7 month, who, during a programmed examination, showed electrocardiographic signs of ST segment elevation, without symptoms usually accompanyin... | [
"<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 electrocardiographic pattern resembling myocardial infarction\n <span style=\"font-size: 0.8em; font-we... | [
"Duchenne muscular dystrophy",
"Duchenne",
"myocardial necrosis"
] | null | [
"electrocardiographic pattern resembling myocardial infarction",
"electrocardiographic signs of ST segment elevation",
"apoptosis"
] | null | null | [
"The biological markers of myocardial damage became positive",
"recovered"
] | [
"without symptoms usually accompanying myocardial infarction (chest pain, dyspnoea, sweating)"
] |
duchenne:12931634 | [A case of Duchenne muscular dystrophy showing coagulation cascade activation induced by muscle destruction due to convulsion]. | [
"A male patient with advanced Duchenne muscular dystrophy (DMD) had tonic-clonic convulsion. He showed transient elevations of serum creatine kinase (CK) and plasma D-dimer. Serum CK, ordinarily 122-386 IU/l, was elevated to 9,262 IU/l, while plasma D-dimer, below 66 ng/ml in normal subjects, was at 543 ng/ml, and ... | [
"<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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"advanced Duchenne muscular dystrophy (DMD)",
"DMD",
"advanced DMD"
] | null | [
"tonic-clonic convulsion",
"acute muscle destruction",
"tonic-clonic convulsion",
"fibrin thrombus",
"thrombosis, such as a pulmonary embolism",
"Thrombosis",
"acute muscle destruction",
"thrombosis"
] | null | null | [
"transient elevations of serum creatine kinase (CK) and plasma D-dimer",
"Serum CK, ordinarily 122-386 IU/l, was elevated to 9,262 IU/l",
"plasma D-dimer, below 66 ng/ml in normal subjects, was at 543 ng/ml",
"levels were significantly correlated",
"transiently activate a coagulation cascade",
"Plasma D-d... | [
"Serum fibrin and fibrinogen degradation products levels were within a normal range",
"no thrombotic complications"
] |
duchenne:12826208 | Successful heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy. | [
"Inherited myopathies in patients with secondary end-stage cardiomyopathies have always been considered a relative contraindication for cardiac transplantation. High operative risk related to muscle impairment and potential graft involvement secondary to the underlying myopathy have been the two main reasons implic... | [
"<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 Inherited myopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Inherited myopathies",
"secondary end-stage cardiomyopathies",
"end-stage cardiomyopathy",
"inherited myopathies",
"end-stage cardiomyopathies",
"inherited myopathies",
"muscular dystrophy",
"Becker's muscular dystrophy",
"hips-dystrophy",
"desminopathy",
"end-stage cardiomyopathy",
"inherite... | null | [
"muscle impairment",
"potential graft involvement secondary to the underlying myopathy",
"cardiomyopathy",
"good performance status",
"only a mild degree of muscle impairment",
"long-term complications"
] | [
"cardiac transplantation",
"cardiac transplantation",
"heart transplantation",
"transplantation",
"successful rehabilitation",
"heart transplantation"
] | null | null | [
"no evidence of graft dysfunction"
] |
duchenne:12820548 | [A case of Duchenne muscular dystrophy complicated by thrombotic thrombocytopenic purpura]. | [
"We experienced a patient with Duchenne muscular dystrophy (DMD) complicated by thrombotic thrombocytopenic purpura (TTP). This patient exhibited abrupt high fever, renal dysfunction and thrombocytopenia from February 2, 2002. Hemolysis was also indicated by indirect dominant hyperbilirubinemia, although hemoglobin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We experienced 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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne muscular dystrophy (DMD)",
"thrombotic thrombocytopenic purpura (TTP)",
"TTP",
"DMD",
"DMD",
"TTP",
"DMD",
"TTP",
"DMD",
"TTP"
] | null | [
"abrupt high fever",
"renal dysfunction",
"Thrombosis",
"cerebral and lung infarction",
"muscle degeneration",
"pulmonary infarction",
"endothelial abnormalities",
"endothelial injury"
] | [
"Plasma exchange was performed for 4 days"
] | null | [
"thrombocytopenia",
"Hemolysis",
"indirect dominant hyperbilirubinemia",
"hemoglobin was only slightly decreased",
"decreased activity (21%) of von Willebrand factor cleaving protease activity",
"hypercoagulation",
"strong correlation between serum CK level and FDP",
"transient elevation of serum CK w... | [
"No central nervous system signs and symptoms were detected",
"serum CK was not elevated",
"muscle degeneration"
] |
duchenne:12794683 | Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation. | [
"Here we report a boy with dilated cardiomyopathy and severe Duchenne muscular dystrophy (DMD). The disease-causing mutation was a new 16 bp deletion in exon 44 of the dystrophin gene, which led to frameshifting and premature translation termination. This deletion in exon 44 was associated with dilated cardiomyopat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Here we report 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 boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"dilated cardiomyopathy",
"severe Duchenne muscular dystrophy (DMD)",
"dilated cardiomyopathy"
] | [
"disease-causing mutation was a new 16 bp deletion in exon 44 of the dystrophin gene",
"frameshifting and premature translation termination",
"deletion in exon 44",
"dystrophin region in exon 44",
"abundance of repeated motifs was detected within the deleted segment and in the"
] | [
"myocardial damage",
"dilated cardiomyopathy",
"early death"
] | null | null | null | null |
duchenne:12765898 | Acute heart failure during spinal surgery in a boy with Duchenne muscular dystrophy. | [
"Patients with Duchenne muscular dystrophy (DMD) are at high risk of perioperative complications. DMD may be accompanied by heart failure resulting from dystrophic involvement of the myocardium, which can be subclinical in the early stages of the disease. This case demonstrates that a normal preoperative ECG and ec... | [
"<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 (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"perioperative complications",
"heart failure",
"dystrophic involvement of the myocardium",
"heart failure"
] | [
"anaesthesia",
"major surgery"
] | null | null | [
"normal preoperative ECG and echocardiograph"
] |
duchenne:12757359 | Two children with muscular dystrophies ascertained due to referral for diagnosis of autism. | [
"We report two children who were referred for diagnostic assessment for autism and were subsequently determined to have a muscular dystrophy (MD). Each child had a history of speech delay and social impairments, but also had motor delays that had not previously been investigated. Both children met diagnostic criter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"autism",
"muscular dystrophy (MD)",
"autism spectrum disorders",
"Becker's MD",
"congenital (autosomal recessive) MD",
"autism spectrum disorders"
] | null | [
"speech delay",
"social impairments",
"motor delays",
"hypotonic",
"other mild motor impairments"
] | null | null | [
"Serum creatine kinase (CK) activity was markedly elevated"
] | null |
duchenne:12674656 | Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. | [
"The prediction that Duchenne muscular dystrophy patients have out-of-frame deletions and Becker muscular dystrophy patients have in-frame deletions of the dystrophin gene holds well in the vast majority of cases. Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD) ph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The prediction 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"DMD",
"Becker"
] | [
"out-of-frame deletions",
"in-frame deletions of the dystrophin gene",
"Large in-frame deletions involving the rod domain only",
"large in-frame deletions of the rod-shaped domain of the dystrophin gene associated with severe (Duchenne) clinical phenotype",
"large in-frame deletions of the rod domain (exons... | [
"mild (BMD) phenotype",
"early-onset weakness"
] | null | null | null | null |
duchenne:12638315 | [First case of successful pregnancy after preimplantation genetic diagnosis]. | [
"Preimplantation genetic diagnosis is introduced for prevention of genetic disorders. The combination of in vitro fertilization technique and single cell molecular genetic diagnosis allows only unaffected embryos to be selected for embryotransfer, providing a healthy pregnancy and so also avoiding the need for its ... | [
"<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 Preimplantation genetic diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"genetic disorders",
"Duchenne muscular dystrophy",
"monogenic disorders"
] | [
"carriers for the delta-F508 mutation of cystic fibrosis"
] | null | [
"in vitro fertilization technique",
"embryotransfer",
"preimplantation genetic diagnosis",
"All three preembryos were transferred into the uterus, which resulted a singleton pregnancy",
"birth of a healthy female baby",
"preimplantation genetic diagnosis with sexing"
] | [
"Hungary"
] | null | [
"its possible termination"
] |
duchenne:12508091 | Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy. | [
"The molecular background of an intermediate type of dystrophinopathy [Duchenne and Becker muscular dystrophy (DMD/BMD)] remains to be clarified, and out-of -frame and in-frame mutations of the dystrophin gene are shown to be causes of DMD and BMD, respectively. In a boy with this disease, dystrophin mRNA extracted... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The molecular background 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 intermediate type of dystrophinopathy [Duchenne and Becker muscular dystrophy ... | [
"intermediate type of dystrophinopathy [Duchenne and Becker muscular dystrophy (DMD/BMD)",
"DMD",
"BMD",
"intermediate type of dystrophinopathy",
"DMD"
] | [
"out-of -frame and in-frame mutations of the dystrophin gene",
"novel point mutation of 2831-2A>G at the conserved splice acceptor site of intron 20",
"an insertion of six nucleotides of intron 20 between exons 20 and 21 (dys+6) that encoded two novel amino acids in the rod domain of dystrophin",
"an insertio... | null | null | null | null | null |
duchenne:12412206 | A case of limb-girdle muscular dystrophy with serum anti-nuclear antibody which led to a mistaken diagnosis of polymyositis. | [
"A 45-year-old woman had first been diagnosed with polymyositis because of the presence of focal necrosis, regeneration and inflammatory infiltration in the muscle fibers, and elevated creatinine phosphokinase levels. However, a pathological re-evaluation and family history led to the definite diagnosis of limb-gir... | [
"<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 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"polymyositis",
"limb-girdle muscular dystrophy (MD)",
"MD",
"inflammatory myopathies",
"limb-girdle MD"
] | null | null | null | null | [
"elevated creatinine phosphokinase levels",
"serum anti-nuclear antibody was positive",
"ANA positivity"
] | [
"family history is uninformative"
] |
duchenne:12407864 | [Typical electrocardiogram in atypical context. Or, when history and electrocardiogram are conclusive for a complex diagnosis]. | [
"A case of sudden death in an old female carrier of Duchenne muscular dystrophy is reported. Typical electrocardiographic features were registered without other signs or symptoms of heart involvement. In particular, cardiomyopathy was excluded by echocardiographic evaluation. We believe that in case of a typical el... | [
"<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 sudden death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"sudden death",
"Typical electrocardiographic features"
] | null | null | null | [
"without other signs or symptoms of heart involvement",
"cardiomyopathy was excluded by echocardiographic evaluation"
] |
duchenne:12363102 | Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. | [
"We report a 5-year follow-up of two 4-year-old boys with classical Duchenne dystrophy, with an out-of-frame deletion in the Duchenne gene and absence of dystrophin in their muscle, who had a quite remarkable response to an intermittent, low-dosage, regime of prednisolone (0.75 mg/kg/day for 10 days each month, or ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a 5-year follow-up 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 4-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"classical Duchenne dystrophy",
"Duchenne muscular dystrophy"
] | [
"out-of-frame deletion in the Duchenne gene"
] | [
"complete remission of all clinical signs of dystrophy",
", sustained almost fully",
"initial response was almost as marked, sustained for almost 5 years",
"fairly rapid decline",
"loss of independent ambulation",
"remained around the 50th centile for height and weight"
] | [
"intermittent, low-dosage, regime of prednisolone (0.75 mg/kg/day for 10 days each month, or alternating 10 days on and 10 days off)",
"regime of low dosage, intermittent prednisolone, with cycles of 10 days of treatment, either per month or alternating with 10 days off treatment"
] | null | null | [
"absence of dystrophin in their muscle",
"no evidence of demineralization of bone",
"nor any signs of chronic prednisolone toxicity"
] |
duchenne:12359139 | Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. | [
"Dilated cardiomyopathy (DCM) is the major indication for heart transplantation. Approximately 30% of all DCM is thought to be inherited, while 70% is sporadic. Mutations in the dystrophin gene have been associated with the uncommon X-linked form of DCM. We hypothesized that missense mutations and other less severe... | [
"<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 Dilated cardiomyopathy (DCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Dilated cardiomyopathy (DCM)",
"DCM",
"sporadic",
"DCM",
"sporadic DCM",
"sporadic DCM",
"sporadic DCM",
"sporadic DCM",
"dilated cardiomyopathy"
] | [
"inherited",
"Mutations in the dystrophin gene",
"uncommon X-linked",
"missense mutations and other less severe mutations of the dystrophin gene",
"putative new mutations (IVS5+1 G>T, K18N, and F3228L)",
"seven polymorphisms",
"splice site mutation IVS5+1 is predicted to cause skipping of exon 5, which ... | null | [
"heart transplantation"
] | null | [
"CK-MM (creatine kinase, skeletal muscle) levels greater than 250 units",
"values ranging from 20 to 200"
] | [
"failed to identify these three mutations",
"without mutations for which CK-MM were available",
"without clinical evidence of skeletal myopathy"
] |
duchenne:12235112 | Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. | [
"Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disorder caused by mutations in the dystrophin gene. Studies have shown that bone marrow cells transplanted into lethally irradiated mdx mice, the mouse model of DMD, can become part of skeletal muscle myofibers. Whether human marrow cells 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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"severe progressive muscle-wasting disorder",
"DMD",
"DMD",
"DMD-BMT1",
"DMD",
"DMD-BMT1"
] | [
"mutations in the dystrophin gene",
"X-linked severe combined immune deficiency"
] | null | [
"lethally irradiated",
"received bone marrow transplantation",
"transplantation"
] | null | null | null |
duchenne:12166284 | [Application of bispectral index (BIS) monitoring to anesthetic management of posterior spinal fusion in a patient with Duchenne muscular dystrophy]. | [
"A 12-year-old boy with Duchenne muscular dystrophy underwent posterior spinal fusion for progressive scoliosis. Preoperative evaluation was focused on respiratory function as well as cardiac function, which revealed markedly reduced respiratory reserve (FVC 0.77 l, %FVC 25.9%, FEV1.0 0.48 l, %FEV1.0 62%) and well-... | [
"<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 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"progressive scoliosis",
"malignant hyperthermia",
"Duchenne muscular dystrophy"
] | null | [
"markedly reduced respiratory reserve (FVC 0.77 l, %FVC 25.9%, FEV1.0 0.48 l, %FEV1.0 62%)",
"well-preserved biventricular function",
"BIS increased from 40's to 80's"
] | [
"posterior spinal fusion",
"anesthesia",
"Propofol and fentanyl",
"induction and maintenance of anesthesia",
"ventilated with O2-nitrous oxide mixture",
"anesthesia machine",
"disposable circuit and fresh CO2-absorbent and disconnecting the vaporizers",
"flushed with O2 at a rate of 10 l.min-1 for 20 ... | null | null | [
"without triggering agents",
"without any sign of malignant hyperthermia"
] |
duchenne:12145744 | The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. | [
"A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypotonia (Duchenne muscular dystrophy [DMD]) was previously shown to carry a pericentric inversion of the X chromosome, 46,Y,inv(X)(p21.2q22.2). His mother carried this inversion on one X allele. The patient's condition w... | [
"<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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"Duchenne muscular dystrophy [DMD]",
"DMD"
] | [
"pericentric inversion of the X chromosome, 46,Y,inv(X)(p21.2q22.2)",
"the DMD gene is located at Xp21.2, which is one breakpoint of the inv(X)",
"opposite breakpoint at Xq22",
"catastrophic genetic events",
"deletion of part of the DMD gene at Xp21.2",
"duplication of the human proteolipid protein gene (... | [
"profound mental retardation",
"athetosis",
"nystagmus",
"severe congenital hypotonia",
"neuromuscular and cognitive development",
"profound mental retardation"
] | null | null | null | [
"misdiagnosed as cerebral palsy",
"severe mental retardation"
] |
duchenne:12100911 | Successful bridge to transplantation in a patient with Becker muscular dystrophy-associated cardiomyopathy. | [
"A 28-year-old male patient diagnosed with Becker muscular dystrophy (BMD)-associated cardiomyopathy was successfully bridged to transplantation with the Cardiowest total artificial heart. Dramatic improvement of muscular functional status occurred following transplantation."
] | [
"<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 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy (BMD)-associated cardiomyopathy"
] | null | [
"Dramatic improvement of muscular functional status"
] | [
"bridged to transplantation with the Cardiowest total artificial heart",
"transplantation"
] | null | null | null |
duchenne:12040521 | [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]. | [
"gamma-sarcoglicanopathies, also classified as limb girdle muscular dystrophy type 2C (LGMD2C) are a group of autosomal recessive muscular dystrophies due to mutations in 13q12 and subsequent g sarcoglican deficiency. The protein is one of the components of the dystrophin associated glycoprotein complex and is thou... | [
"<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 gamma-sarcoglicanopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"gamma-sarcoglicanopathies",
"limb girdle muscular dystrophy type 2C (LGMD2C)",
"muscular dystrophies",
"Progressive Duchenne muscular dystrophy (DMD)",
"gypsie",
"severe DMD like muscular dystrophy",
"DMD",
"g sarcoglicanopathy",
"primary sarcoglycanopathy",
"primary dystrophinopathies",
"LGMD"... | [
"autosomal recessive",
"mutations in 13q12",
"homozygous for C283Y missense mutation",
"autosomal recessive mode of inheritance"
] | [
"rapid progression"
] | null | [
"Spain",
"galician",
"Northwest Spain"
] | [
"g sarcoglican deficiency"
] | [
"normal pattern of dystrophin"
] |
duchenne:12031623 | Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy. | [
"Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated. We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Despite numerous reports about \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 alterations\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne",
"Becker muscular dystrophies",
"dilated cardiomyopathy"
] | [
"dystrophin alterations",
"dystrophin gene promoters",
"DNA segment deletion encompassing promoters M and P of the human dystrophin gene",
"simultaneous lack of promoters P and M"
] | [
"very severe muscle phenotype",
"dramatic consequences in skeletal muscle but not in the heart"
] | null | null | null | [
"without cardiomyopathy"
] |
duchenne:11927228 | Becker muscular dystrophy-related cardiomyopathy: a favorable response to medical therapy. | [
"Patients with Becker muscular dystrophy-related cardiomyopathy typically survive into their 30s, when they succumb to complications of cardiomyopathy or receive heart transplants. The cardiomyopathy is related to an abnormality in the protein dystrophin; no successful medical responses have been reported to date. ... | [
"<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 Becker muscular dystrophy-related cardiomyopathy\n <span style=\"font-size: 0.8em; font-weig... | [
"Becker muscular dystrophy-related cardiomyopathy",
"cardiomyopathy",
"Becker muscular dystrophy-related cardiomyopathy",
"Becker muscular dystrophy-related cardiomyopathy"
] | [
"abnormality in the protein dystrophin"
] | [
"complications of cardiomyopathy",
"improvement of cardiac status"
] | [
"heart transplants",
"carefully titrated medical therapy",
"trial of medical therapy",
"transplant"
] | null | null | null |
duchenne:11889791 | [Sevoflurane can induce rhabdomyolysis in Duchenne's muscular dystrophy]. | [
"Rhabdomyolysis is one of the perioperative complications in patients with Duchenne's muscular dystrophy (DMD). It has been suggested that sevoflurane can be used safely for anesthesia in patients with DMD. In this report, we describe a case with DMD who received anesthesia with sevoflurane, in which rhabdomyolysis... | [
"<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 Rhabdomyolysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Rhabdomyolysis",
"Duchenne's muscular dystrophy (DMD)",
"DMD",
"DMD",
"rhabdomyolysis",
"DMD",
"rhabdomyolysis",
"DMD"
] | [
"abnormality of the dystrophin gene"
] | [
"Body temperature was 37.6 degrees C"
] | [
"sevoflurane",
"anesthesia",
"anesthesia with sevoflurane",
"tonsillectomy",
"general anesthesia",
"Anesthesia",
"induced with sevoflurane",
"maintained with sevoflurane in nitrous oxide and oxygen under controlled ventilation",
"diuresis with mannitol and furosemide",
"sevoflurane anesthesia"
] | null | [
"high level of creatine kinase (CK) (16,000-32,000 IU.l-1)",
"dark red urine with a high concentration of myoglobin (1,390,000 ng.ml-1) was recognized",
"high level of CK (63,500 IU.l-1)",
"urine became clear"
] | [
"without muscle relaxant",
"electrocardiogram and serum potassium were within normal ranges",
"without any complication"
] |
duchenne:11871307 | [Pathogenetic role of intestinal microbiocenosis in the pathogenesis of hereditary myodystrophy]. | [
"The effect of the inclusion of probiotic preparations for the correction of disturbances in normal intestinal microflora into the complex therapy of patients wish Duchenne's childhood muscular dystrophy and Becker's myopathy was analyzed. Probiotic therapy made it possible to improve the clinical state of patients... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The effect 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 inclusion of probiotic preparations\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne's childhood muscular dystrophy",
"Becker's myopathy"
] | [
"hereditary pathology"
] | [
"increase in muscular strength",
"positive shifts in electromyographic, immunological, biochemical, hormonal characteristics"
] | [
"inclusion of probiotic preparations",
"into the complex therapy",
"Probiotic therapy"
] | null | [
"disturbances in normal intestinal microflora"
] | null |
duchenne:11770249 | Adhalin deficiency: an unusual cause of muscular dystrophy. | [
"Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a f... | [
"<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 Childhood muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Childhood muscular dystrophies",
"adhalinopathy",
"Severe childhood autosomal recessive muscular dystrophies",
"SCARMD)",
"Adhalinopathy",
"SCARMD",
"adhalinopathy"
] | [
"variably inherited",
"mutation in the sarcoglycan complex (59)"
] | [
"motor disability",
"early onset weakness",
"calf pseudo hypertrophy"
] | null | [
"India"
] | [
"complete absence for adhalin, a dystrophin associated glycoprotein"
] | [
"normal dystrophin I and II staining"
] |
duchenne:11766073 | Non-Hodgkin's lymphoma of the ascending colon in a patient with becker muscular dystrophy: report of a case. | [
"We herein present the findings of a 10-year-old boy with non-Hodgkin's lymphoma of the ascending colon which caused intussusception and intestinal bleeding. He had a history of Becker muscular dystrophy. However, he had neither hypertrophic calves nor cardiomyopathy, and his serum creatine kinase (CK) level always... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein present the findings 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 10-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"non-Hodgkin's lymphoma of the ascending colon",
"Becker muscular dystrophy",
"diffuse large B-cell lymphoma of the ascending colon"
] | null | [
"intussusception",
"intestinal bleeding",
"cardiomyopathy",
"intussusception in his ascending colon",
"highly vascular tumor",
"5 x 6 x 8-cm solid tumor of the ascending colon resembled a submucosal tumor",
"had two ulcerous lesions at the tip"
] | [
"right hemicolectomy",
"surgery"
] | null | [
"high serum levels of CK (2038IU/l), aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH)",
"blood hemoglobin level was 7.0g/dl",
"the CK (37861U/l), AST (110lU/l), ALT (1381U/ l), and LDH (420lU/l) levels are still high"
] | [
"neither hypertrophic calves",
"no involvement of lymphoma postoperatively",
"without any signs of recurrence"
] |
duchenne:11765481 | Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy. | [
"Left ventricular hypertrabeculation is frequently associated with neuromuscular disorders. Whether left ventricular hypertrabeculation in these patients is congenital or develops during lifetime, is unknown.",
"In a 65-year-old man with Becker's muscular dystrophy, due to a duplication in the dystrophin gene on ... | [
"<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 Left ventricular hypertrabeculation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"neuromuscular disorders",
"Becker's muscular dystrophy",
"Becker's muscular dystrophy",
"Becker's muscular dystrophy"
] | [
"duplication in the dystrophin gene on chromosome Xq21 (dystrophin molecular weight: 500 kD)"
] | [
"Left ventricular hypertrabeculation",
"left ventricular hypertrabeculation",
"left ventricular hypertrabeculation",
"thickening of the left ventricular myocardium",
"left ventricular hypertrabeculation",
"cardiac involvement",
"Left ventricular hypertrabeculation",
"cardiac involvement"
] | null | null | null | [
"although being absent in repeated previous echocardiographic examinations"
] |
duchenne:11732779 | Prednisone therapy in Becker's muscular dystrophy. | [
"Two boys with Becker's muscular dystrophy had a dramatic and sustained improvement in strength with therapeutic use of pred nisone. Both had documented Xp-21 defects on DNA testing. Concurrently with improvement, there was a decrease in their serum creatine kinase levels. One patient had two muscle biopsies, the f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 boys\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Becker's muscular dystrophy",
"muscle dystrophy",
"Becker's muscular dystrophy",
"Becker's muscular dystrophy"
] | [
"Xp-21 defects"
] | [
"dramatic and sustained improvement in strength",
"sus tained improvement in strength"
] | [
"therapeutic use of pred nisone",
"prednisone treatment",
"therapeutic corticosteroids",
"prednisone"
] | null | [
"decrease in their serum creatine kinase levels",
"immunoblot decrease in the quantity of muscle dystrophin"
] | [
"biopsy was normal"
] |
duchenne:11702221 | Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? | [
"More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%-98.6% of the full-length protein), the truncating mutations are associated with a surpri... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">More than 98% 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: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy"
] | [
"premature termination of the dystrophin open reading frame at various points over its 11-kb length",
"0%-98.6% of the full-length protein)",
"truncating mutations",
"rare truncating mutations that occur near the 3' end of the dystrophin gene (beyond exon 70)",
"frameshift mutation"
] | [
"rescues the muscular but not mental phenotype"
] | null | null | null | [
"nonsense-mediated decay (NMD)"
] |
duchenne:11594504 | Late onset and very mild course of Xp21 Becker type muscular dystrophy. | [
"We report a case of late onset of Becker's muscular dystrophy (BMD), diagnosed at the age of 60, which showed a very mild clinical course. Remarkably, the immunohistochemical pattern did not show significant alterations, while Western blotting disclosed low molecular weight dystrophin. DNA analysis showed a deleti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 late onset of Becker's muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font... | [
"late onset of Becker's muscular dystrophy (BMD)",
"Becker's muscular dystrophy",
"Xp21 muscular dystrophy",
"myopathies"
] | [
"deletion of the exons 45-53 of the Xp21 gene, which is"
] | [
"very mild clinical course"
] | null | null | [
"low molecular weight dystrophin"
] | [
"immunohistochemical pattern did not show significant alterations"
] |
duchenne:11532557 | Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia. | [
"A 34-year-old previously healthy woman with no remarkable family history developed asymptomatic hyperCKemia at age 26. Over the next 6 years, hyperCKemia persisted (502-2562 IU/l; normal range<180). A muscle biopsy showed minimal nonspecific myopathy. Genetic analysis of blood and muscle samples showed no abnormal... | [
"<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 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"minimal nonspecific myopathy",
"pregnancy",
"Duchenne muscular dystrophy"
] | null | null | [
"pregnant",
"delivery"
] | null | [
"asymptomatic hyperCKemia",
"hyperCKemia persisted (502-2562 IU/l; normal range<180)",
"hyperCKemia reappeared (715-2620)",
"idiopathic hyperCKemia",
"normalization of serum CK level"
] | [
"no remarkable family history",
"no abnormality in the dystrophin gene",
"serum creatine kinase (CK) was normal at 170 IU/l in the third trimester",
"her baby tested normal for CK"
] |
duchenne:11496434 | [Female carrier of Duchenne muscular dystrophy presenting with secondary dilated cardiomyopathy: a case report]. | [
"A 48-year-old female carrier of Duchenne muscular dystrophy had developed congestive heart failure but had no skeletal muscle symptoms. She was admitted to our hospital complaining of palpitation in December 1998. Her three sons had Duchenne muscular dystrophy. Neurological examination was unremarkable with no evi... | [
"<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; ... | [
"Duchenne muscular dystrophy",
"Cardiomyopathy"
] | [
"dystrophin gene mutation"
] | [
"congestive heart failure",
"palpitation",
"severe left ventricular dysfunction",
"generalized hypokinesis",
"left ventricular ejection fraction was 28%"
] | [
"Beta-blocker therapy(carvedilol 5 mg/day)"
] | null | [
"Serum creatine kinase level was slightly increased"
] | [
"no skeletal muscle symptoms",
"Neurological examination was unremarkable",
"no evidence of muscle weakness",
"Coronary angiography showed no abnormalities"
] |
duchenne:11475588 | Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. | [
"Differential diagnosis of limb-girdle muscular dystrophy, including alpha-sarcoglycanopathy and Duchenne muscular dystrophy, is impossible to acheive on clinical grounds alone; therefore immunohistology, Western blotting and molecular genetic analysis are manadatory for a correct diagnosis. The patient's genotype ... | [
"<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:... | [
"limb-girdle muscular dystrophy",
"alpha-sarcoglycanopathy",
"Duchenne muscular dystrophy"
] | [
"genotype with a hitherto unknown mutation (Tyr134STOP) in exon 5",
"mutations in the alpha-sarcoglycan gene"
] | null | null | null | null | null |
duchenne:11455396 | Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). | [
"The cardiac features of a novel form of congenital muscular dystrophy (Salih CMD) are described in two adolescent siblings. The patients presented with severe hypotonia at birth, associated with delayed development. They could walk independently and managed to maintain walking after 13 years of age. Their muscle i... | [
"<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 cardiac features\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"novel form of congenital muscular dystrophy (Salih CMD)",
"Duchenne and Becher muscular dystrophy (DMD and BMD)",
"severe childhood autosomal recessive muscular dystrophy (SCARMD)",
"sarcoglycan deficiency (sarcoglycanopathies)",
"Salih CMD",
"cardiomyopathy",
"Salih CMD",
"MD",
"DMD",
"BMD",
"... | null | [
"cardiac features",
"severe hypotonia",
"delayed development",
"could walk independently",
"muscle immunohistochemistry",
"cardiomyopathy",
"delayed atrioventricular (AV) conduction",
"left anterior fascicular block (left axis deviation)",
"left atrial enlargement",
"severe left ventricular dysfun... | [
"managed to maintain walking"
] | null | [
"lamininalpha2 (merosin)-deficient CMD"
] | [
"without evidence of atrial dysarrhythmia",
"Echocardiography and MUGA scan were normal"
] |
duchenne:11452178 | Abnormality of the myocardial sympathetic nervous system in a patient with Becker muscular dystrophy detected with iodine-123 metaiodobenzylguanidine scintigraphy. | [
"This study was performed to determine whether I-123 metaiodobenzylguanidine (MIBG) scintigraphy can depict myocardial sympathetic nerve abnormalities in Becker muscular dystrophy.",
"A 34-year-old man with Becker muscular dystrophy underwent Tl-201 and I-123 MIBG scintigraphy sequentially before and 4 months aft... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study was performed to determine whether \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n I-123 metaiodobenzylguanidine (MIBG) scintigraphy\n <span st... | [
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | null | [
"myocardial sympathetic nerve abnormalities",
"nonreversible myocardial perfusion defects in the anterior, inferoposterior, and apical walls",
"region with decreased sympathetic nerve function or innervation",
"washout rate was 21% on delayed images obtained 4 hours after the injection of I-123 MIBG",
"hype... | [
"oral administration of enalapril maleate, an angiotensin-converting enzyme inhibitor",
"administration of an angiotensin-converting enzyme inhibitor"
] | null | [
"H:M ratio was 3.0"
] | null |
duchenne:11448811 | Cardiomyopathy in a carrier of Duchenne's muscular dystrophy. | [
"During the third trimester of her pregnancy, a 25-year-old carrier of Duchenne's muscular dystrophy developed severe cardiac failure and required mechanical circulatory support and transplantation. Her cardiac function improved during 311 days of circulatory support. However this improvement was not sufficient to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">During 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 third trimester of her pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Duchenne's muscular dystrophy"
] | null | [
"severe cardiac failure",
"cardiac function improved"
] | [
"mechanical circulatory support",
"transplantation",
"311 days of circulatory support"
] | null | null | [
"improvement was not sufficient to allow removal of her left ventricular assist device before transplantation"
] |
duchenne:11426492 | "Liver function tests" are not always tests of liver function. | [
"A child with Wilm's tumor and a child with immune thrombocytopenic purpura (ITP) were each noted to have persistent elevations of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH). Both children underwent thorough evaluation for liver disease and, as a result, experi... | [
"<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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Wilm's tumor",
"immune thrombocytopenic purpura (ITP)",
"liver disease",
"Wilm's tumor",
"ITP",
"Duchenne's muscular dystrophy",
"Becker's muscular dystrophy",
"muscle disease"
] | null | null | null | null | [
"persistent elevations of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH)",
"extremely elevated serum creatine kinase (CK)",
"unexplained elevations of AST, ALT, and LDH"
] | null |
duchenne:11404124 | Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene. | [
"We report a 6-year-old female patient presenting with a sudden and severe single episode of rhabdomyolysis in which screening for a metabolic disorder was negative. Four months after the episode a muscle biopsy was performed and showed a mild pattern of necrosis/regeneration. Upon immunofluorescence, a mosaic patt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 6-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"spontaneous rhabdomyolysis",
"Duchenne muscular dystrophy"
] | [
"a duplication of exons 3 to 17 on one X-chromosome of the proband, but not on the mother's X-chromosome",
"clearly skewed X-inactivation (85% of the defective X being active)"
] | [
"sudden and severe single episode of rhabdomyolysis"
] | null | null | null | [
"screening for a metabolic disorder was negative"
] |
duchenne:11386386 | Dilated cardiomyopathy of Becker-type muscular dystrophy with exon 4 deletion--a case report. | [
"The authors report a 47-year-old man with Becker-type muscular dystrophy presenting with dilated cardiomyopathy. Left ventriculography showed diffuse severe hypokinesia: left ventricular end-diastolic volume index 193 mL/m2, left ventricular end-systolic volume index 143 mL/m2, and left ventricular ejection fracti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report 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 47-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Becker-type muscular dystrophy",
"dystrophic process"
] | [
"deletion of exon 4"
] | [
"dilated cardiomyopathy",
"diffuse severe hypokinesia",
"left ventricular end-diastolic volume index 193 mL/m2",
"left ventricular end-systolic volume index 143 mL/m2",
"left ventricular ejection fraction 26%",
"difference in immunostaining pattern between skeletal muscles and cardiac muscles",
"Severe ... | null | null | null | null |
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