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:20537208 | Tracheotomy bleeding from an unusual tracheo-arterial fistula: involvement of an aberrant right subclavian artery. | [
"The development of a tracheo-arterial fistula is a rare but severe complication of tracheotomy. The reported patient presented with such a fistula involving an aberrant right subclavian artery, termed an arteria lusoria, an aortic arch abnormality which is usually asymptomatic.",
"A 30-year-old man was admitted ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The development 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 tracheo-arterial fistula\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"advanced Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"tracheo-arterial fistula",
"fistula involving an aberrant right subclavian artery, termed an arteria lusoria",
"aortic arch abnormality",
"bleeding through his tracheotomy",
"tracheo-arterial fistula involving an aberrant right subclavian artery",
"severe scoliosis",
"Arteria lusoria",
"aortic arch a... | [
"tracheotomy",
"invasive assisted ventilation",
"transient haemostasis",
"over-inflation of the tracheostomy tube cuff",
"Aneurysm ablation",
"endovascular interventional radiology procedure",
"tracheotomised",
"tracheostomy"
] | null | null | [
"asymptomatic"
] |
duchenne:20500440 | Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature. | [
"The aim of this study was to call the attention to the often disregarded message that hypertransaminasemia may be a marker of both liver and muscle diseases by presenting personal case reports and a systematic literature review. Three male children (mean age 5.7 years) were inappropriately addressed, during the la... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The aim of this study was to call the attention to the often disregarded message 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 hypertransaminasemia\n ... | [
"liver and muscle diseases",
"muscular dystrophy",
"liver diseases"
] | null | null | null | null | [
"hypertransaminasemia",
"chronic hypertransaminasemia of unknown origin",
"increased serum aminotransferases"
] | [
"myopathic injury"
] |
duchenne:20446227 | Detection of focal cerebral injury using diffusion tensor magnetic resonance imaging in a boy with becker muscular dystrophy. | [
"Here, we report on a boy affected by both cerebral palsy and Becker muscular dystrophy (BMD). He had infrequently used his right hand since birth. But brain magnetic resonance imaging (MRI) taken at the age of 15 months showed no specific finding. Approximately 1 month later, muscle enzymes of his older brother we... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Here, 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 boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Becker muscular dystrophy (BMD)",
"progressive muscular dystrophy",
"BMD",
"cerebral palsy"
] | null | [
"cerebral palsy",
"right equinovarus deformity",
"clumsiness of the right hand",
"decrease in the quantity of fibers in the left corticospinal tract"
] | [
"orthopedic surgery",
"post-operative rehabilitation"
] | null | [
"muscle enzymes of his older brother",
"to be elevated"
] | [
"infrequently used his right hand",
"no specific finding",
"no responsible lesion was found on conventional MRI"
] |
duchenne:20438484 | 9 year old girl with progressive weakness. | [
"A 9-year-old female patient experienced progressive weakness and myalgias of shoulders and back of several months duration. Her medical history was notable for spina bifida in association with a Chiari type II malformation and hydrocephalus. Developmental motor milestones were delayed whereby walking began at age ... | [
"<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 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"spina bifida",
"Chiari type II malformation",
"hydrocephalus"
] | [
"unfavourable lyonization"
] | [
"progressive weakness",
"myalgias of shoulders and back of several months duration",
"Developmental motor milestones were delayed",
"walking began",
"mild bowel and bladder dysfunction",
"weak shoulder adduction, hip and knee flexion",
"partial Gower's maneuver",
"immunohistochemical findings of a Duc... | null | null | null | null |
duchenne:20407399 | Drug rash, eosinophilia, and systemic symptoms syndrome: Two pediatric cases demonstrating the range of severity in presentation--A case of vancomycin-induced drug hypersensitivity mimicking toxic shock syndrome and a milder case induced by minocycline. | [
"Drug rash, eosinophilia, and systemic symptoms syndrome is a type of drug hypersensitivity reaction characterized by the clinical triad of skin eruption, fever, and internal organ involvement. Drug rash, eosinophilia, and systemic symptoms syndrome has rarely been reported in association with vancomycin or in the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Drug rash, eosinophilia, and systemic symptoms syndrome\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Drug rash, eosinophilia, and systemic symptoms syndrome",
"drug hypersensitivity reaction",
"Drug rash",
"drug rash",
"vancomycin",
"drug rash",
"Duchenne muscular dystrophy",
"toxic shock syndrome",
"acne",
"Drug rash",
"drug rash",
"drug rash"
] | null | [
"skin eruption",
"fever",
"internal organ involvement",
"eosinophilia, and systemic symptoms syndrome",
"eosinophilia, and systemic symptoms syndrome",
"drug rash, eosinophilia, and systemic symptoms syndrome",
"eosinophilia, and systemic symptoms syndrome",
"drug rash, eosinophilia, and systemic symp... | [
"vancomycin",
"vancomycin exposure",
"posterior spinal fusion",
"treated with minocycline",
"long-term medications"
] | null | null | null |
duchenne:20385919 | Marked hemiatrophy in carriers of Duchenne muscular dystrophy. | [
"To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the clinical and molecular genetic findings in 2 carriers 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 ... | [
"Duchenne muscular dystrophy (DMD)",
"Duchenne muscular dystrophy",
"DMD"
] | [
"X-linked disorder",
"mutations in the dystrophin gene",
"heterozygous mutations",
"tandem exonic duplication",
"a multiexonic deletion",
"skewed X-inactivation",
"somatic mosaicism"
] | [
"marked hemiatrophy",
"marked right-sided hemiatrophy",
"radiologic evidence of muscle atrophy and fatty replacement on the affected side",
"reduction in dystrophin staining on the right side",
"Marked hemiatrophy"
] | null | null | null | [
"no further point mutations identified on the other chromosome"
] |
duchenne:20356742 | Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. | [
"Episodic myoglobinuria is a well-recognized complication of metabolic myopathies, and may occur in Duchenne and Becker dystrophies, but has only rarely been associated with limb-girdle muscular dystrophy. We describe an unusual presentation, with rhabdomyolysis, of limb-girdle muscular dystrophy (LGMD). We evaluat... | [
"<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 Episodic myoglobinuria\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"metabolic myopathies",
"Duchenne",
"Becker dystrophies",
"limb-girdle muscular dystrophy",
"limb-girdle muscular dystrophy (LGMD)",
"LGMD",
"muscular dystrophy"
] | [
"homozygous mutation in the gamma-sarcoglycan gene"
] | [
"rhabdomyolysis",
"progressive muscle weakness and tenderness"
] | null | null | [
"Episodic myoglobinuria",
"myoglobinuria",
"absent staining for gamma-sarcoglycan",
"Myoglobinuria",
"myoglobinuria"
] | null |
duchenne:20190256 | Perioperative cardiac arrest in a patient with previously undiagnosed Becker's muscular dystrophy after isoflurane anaesthesia for elective surgery. | [
"A previously fit 12-yr-old boy, who had no previous history of anaesthesia, underwent general anaesthesia using isoflurane for an elective circumcision. After uneventful surgery and anaesthesia, he suffered a cardiorespiratory arrest in the recovery room. Prompt oxygenation and cardiopulmonary resuscitation (CPR) ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A previously fit \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-yr-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"rhabdomyolysis",
"Becker's muscular dystrophy",
"acute rhabdomyolysis",
"undiagnosed muscular dystrophy",
"malignant hyperpyrexia (MH)",
"anaesthesia-induced rhabdomyolysis",
"anaesthesia-induced rhabdomyolysis",
"MH"
] | null | [
"cardiorespiratory arrest",
"multi-organ failure",
"excellent recovery",
"adverse perioperative events",
"acute rhabdomyolysis"
] | [
"general anaesthesia using isoflurane for an elective circumcision",
"uneventful surgery and anaesthesia",
"Prompt oxygenation and cardiopulmonary resuscitation (CPR)",
"prolonged CPR",
"requiring CPR for 1 h 45 min and a prolonged intensive care admission",
"volatile anaesthetic agent"
] | null | [
"initial serum potassium was >13 mmol litre(-1)",
"potassium levels were reduced",
"creatine kinase (CK) >70 000 U litre(-1)"
] | [
"no previous history of anaesthesia",
"normal cognitive function",
"without preceding hypermetabolism"
] |
duchenne:20153965 | Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. | [
"Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Theoretically, 13% of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"DMD"
] | [
"in-frame deletions in the DMD gene encompassing exon 51"
] | [
"internally deleted, but essentially functional, dystrophins are identical to those that"
] | [
"antisense-mediated skipping of exon 51 to restore the reading frame",
"exon 51 skipping therapy",
"exon 51 skipping therapy"
] | null | [
"shortened dystrophin protein"
] | null |
duchenne:20110216 | The diagnostic difficulties of complex glycerol kinase deficiency. | [
"We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 2 siblings with 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 contiguous X-linked gene deletion syndrome\n <span style=\"font-size: 0.8e... | [
"complex glycerol kinase deficiency",
"Duchenne muscular dystrophy"
] | [
"contiguous X-linked gene deletion syndrome"
] | [
"congenital adrenal hypoplasia"
] | [
"prepregnancy counseling",
"multidisciplinary team approach"
] | null | [
"glycerol kinase deficiency"
] | null |
duchenne:20071171 | Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. | [
"Two siblings were evaluated for progressive proximal weakness and elevated creatine kinase. Immunohistochemical staining in the brother's muscle biopsy showed near absence of all four sarcoglycan subunits. Clinical progression prompted a trial of deflazacort in both siblings. At 22 months of drug therapy, both pat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two siblings were evaluated for \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 proximal weakness\n <span style=\"font-size: 0.8em; font-weigh... | [
"limb-girdle muscular dystrophy type 2E (LGME 2E)",
"LGME 2E",
"Duchenne muscular dystrophy"
] | [
"homozygous beta-sarcoglycan gene mutation (S114F)"
] | [
"progressive proximal weakness",
"Clinical progression",
"stable or improved strength testing",
"slowing disease progression"
] | [
"trial of deflazacort",
"22 months of drug therapy",
"deflazacort"
] | null | [
"elevated creatine kinase",
"near absence of all four sarcoglycan subunits"
] | null |
duchenne:20031025 | Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a common childhood lethal X-linked recessive disorder, resulting from deletions, duplications and point mutations in the dystrophin gene. Single-cell protocols for preimplantation genetic diagnosis (PGD) still remain challenging due to the enormous size of the gene and the high... | [
"<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",
"DMD"
] | [
"childhood lethal X-linked recessive disorder",
"deletions, duplications and point mutations in the dystrophin gene",
"intragenic recombination",
"in the two deletion hotspots"
] | null | [
"female embryos",
"PGD",
"PGD referrals",
"reducing the pre-clinical PGD work-up",
"girl",
"healthy ongoing pregnancy"
] | null | null | [
"sex"
] |
duchenne:19875288 | Coinheritance of Noonan syndrome and Becker muscular dystrophy. | [
"We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe for the first time a 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 9-year old\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"and Noonan syndrome (NS)",
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"NS"
] | [
"in-frame DMD gene mutation",
"hotspot mutation on PTPN11 gene",
"genetic combination"
] | [
"severe muscular clinical phenotype"
] | null | null | null | null |
duchenne:19863737 | Reversal of rocuronium-induced profound neuromuscular block by sugammadex in Duchenne muscular dystrophy. | [
"A case is reported in which a child with Duchenne muscular dystrophy received a dose of sugammadex to reverse a rocuronium-induced profound neuromuscular block. Sugammadex is the first selective relaxant binding agent and reverses rocuronium- and vecuronium-induced neuromuscular block. A fast and efficient recover... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case is reported in which a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne muscular dystrophy"
] | null | [
"fast and efficient recovery from profound neuromuscular block"
] | [
"dose of sugammadex to reverse a rocuronium-induced profound neuromuscular block",
"Sugammadex",
"selective relaxant binding agent",
"reverses rocuronium- and vecuronium-induced neuromuscular block"
] | null | null | [
"no adverse events or other safety concerns"
] |
duchenne:19859888 | [Contiguous gene deletion syndrome in Xp21: an unusual form of presentation]. | [
"We report a case of an infant where the association of Duchenne's muscular dystrophy (DMD) and pseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21.",
"A 7-month-old male infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hyp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case 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 infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Duchenne's muscular dystrophy (DMD)",
"myopathic compromise",
"dystrophinopathies"
] | [
"contiguous gene deletion syndrome in Xp21",
"deletion in the dystrophin gene",
"deletion in Xp21 of the genes responsible for DMD",
"gene DAX1)",
"gene IL1RAPL1)",
"contiguous gene deletion syndrome in Xp21"
] | [
"psychomotor retardation",
"pronounced axial hypotonia",
"congenital adrenal hypoplasia",
"mental retardation",
"myopathic compromise",
"metabolic complications",
"adrenal hypoplasia"
] | null | null | [
"pseudohypertriglyceridaemia",
"high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L",
"high blood levels of triglycerides",
"high glycerol concentrations both in blood and in urine",
"glycerol kinase deficiency",
"glycerol kinase deficiency",
"increased levels of creatine p... | null |
duchenne:19787739 | Cardiovascular magnetic resonance reveals similar damage to the heart of patients with Becker and limb-girdle muscular dystrophy but no cardiac symptoms. | [
"Cardiac involvement in patients with a sarcoglycanopathy (limb-girdle muscular dystrophy) has been described previously; however, this is the first cardiovascular magnetic resonance (CMR) study in such a patient demonstrating an interesting pattern of myocardial damage using late gadolinium enhancement (LGE) imagi... | [
"<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.... | [
"sarcoglycanopathy",
"limb-girdle muscular dystrophy)",
"sarcoglycanopathy",
"Becker muscular dystrophy",
"sarcoglycanopathy",
"dystrophinopathy"
] | null | [
"Cardiac involvement",
"interesting pattern of myocardial damage",
"wall motion abnormality and the subepicardial pattern of LGE",
"predominance of LGE in the subepicardial layers of the left ventricular inferolateral wall",
"myocardial damage pattern",
"nonspecific cardiac phenotype",
"exaggerated mech... | null | null | null | null |
duchenne:19730022 | Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. | [
"We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase. Investigations for any possible etiologies of rhabdomyol... | [
"<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 69-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"muscle disease",
"dystrophinopathy"
] | [
"X-linked recessive muscle disease",
"heterozygous duplication at exon 1 to 6 of the dystrophin gene as well"
] | [
"dyspnea",
"orthopnea",
"acute renal failure",
"proximal muscle weakness",
"congestive heart failure",
"acute episode of spontaneous rhabdomyolysis",
"acute renal failure"
] | null | null | [
"high-serum creatine kinase",
"with dystrophin antibody against amino-terminal, carboxy-terminal, and rod domain"
] | [
"induced dieresis",
"Investigations for any possible etiologies of rhabdomyolysis",
"were all negative"
] |
duchenne:19708317 | Cardiac assessment of patients with Becker's muscular dystrophy. | [
"Becker's muscular dystrophy (BMD) is one of the most common muscular dystrophy syndromes. The heart is always affected by myocardial fibrosis with early involvement of the right side. Traditionally, ECG, echocardiography and stress testing have been used to evaluate these patients. Cardiac MRI, offering superior 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 Becker's muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Becker's muscular dystrophy (BMD)",
"muscular dystrophy syndromes",
"BMD"
] | null | [
"heart",
"myocardial fibrosis",
"early involvement of the right side",
"myocardial fibrosis"
] | null | null | null | null |
duchenne:19623636 | Pericardial effusion with cardiac tamponade as a cardiac manifestation of Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease in children. It is an X-linked hereditary dystrophinopathy due to the absence of dystrophin. Its onset is often in early childhood and presents with proximal distribution of weakness and a progressive course. Cardiac involvement ... | [
"<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)",
"hereditary neuromuscular disease",
"dystrophinopathy",
"DMD",
"DMD",
"DMD"
] | [
"X-linked hereditary"
] | [
"proximal distribution of weakness",
"progressive course",
"Cardiac involvement",
"cardiac manifestations",
"dilated cardiomyopathy",
"cardiac arrhythmia",
"pericardial effusion with cardiac tamponade",
"cardiac complication",
"progressive dyspnea",
"enlarged cardiac silhouette",
"large pericard... | null | null | [
"absence of dystrophin"
] | null |
duchenne:19619186 | Scoliosis repair in a teenager with Duchenne's muscular dystrophy: who calls the shots? | [
"In this exchange, a clinician (the first author) presents a case scenario for comment by an ethicist (the second author). The case concerns a 15-year-old boy with Duchenne's muscular dystrophy requested palliative surgical correction of a 60 degree thoraco-lumbar scoliosis. The surgical team were initially relucta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this exchange, a clinician (the first author) presents a case scenario for comment by 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 ethicist\n <sp... | [
"Duchenne's muscular dystrophy"
] | null | null | [
"palliative surgical correction of a 60 degree thoraco-lumbar scoliosis",
"surviving the surgery",
"operation"
] | null | null | [
"surgical team were initially reluctant to offer surgery",
"nonfutile but high risk surgery"
] |
duchenne:19609279 | Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene. | [
"Duplications of one or more exons of the dystrophin gene are the second most common mutation in dystrophinopathies. Even though duplications are suggested to occur with greater complexity than thought earlier, they have been considered an intragenic event. Here, we report the insertion of a part of the IL1RAPL1 (i... | [
"<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 Duplications of one or more exons of the dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"dystrophinopathies",
"dystrophinopathy"
] | [
"Duplications of one or more exons of the dystrophin gene",
"duplications",
"insertion of a part of the IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) gene into the duplication junction site",
"duplication mutations in the dystrophin gene",
"unknown 621 bp insertion at the junction of duplicatio... | null | null | null | null | null |
duchenne:19530190 | Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms. | [
"We describe a young adult male presenting with cardiac failure necessitating cardiac transplantation 7 months after presentation. Skeletal muscle biopsy showed mosaic immunostaining for dystrophin. DNA studies showed somatic mosaicism for a nonsense mutation in the dystrophin gene (Arg2905X). The frequency of norm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"somatic mosaicism for Duchenne muscular dystrophy (DMD)",
"DMD",
"Somatic mosaicism for DMD"
] | [
"somatic mosaicism for a nonsense mutation in the dystrophin gene (Arg2905X)",
"frequency of normal versus mutant genes were determined in blood/DNA",
"somatic mosaic",
"somatic mosaic males"
] | [
"cardiac failure",
"rescue skeletal muscle",
"mitigating muscle symptoms",
"acute heart failure",
"dilated cardiomyopathy"
] | [
"cardiac transplantation"
] | null | null | [
"genetic normalization",
"genetic normalization in heart is unlikely to occur"
] |
duchenne:19449433 | Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl. | [
"Duchenne muscular dystrophy is an X-linked condition at the severe end of the spectrum of dystrophinopathies. Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. However, some girls can exhibit features of Duchenne muscular dystrophy because of skewed 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"dystrophinopathies",
"cardiomyopathy",
"Duchenne muscular dystrophy",
"Oculo-facio-cardio-dental syndrome",
"oculo-facio-cardio-dental syndrome",
"Duchenne muscular dystrophy",
"co-occurrence of Duchenne muscular dystrophy and oculo-facio-cardio-dental syndrome"
] | [
"X-linked",
"dystrophin mutations",
"skewed X-inactivation",
"aneuploidy",
"chromosomal rearrangement",
"rare X-linked disorder",
"mutations in BCOR",
"maternally inherited deletion of exons 30-43",
"essentially complete skewing of X-inactivation",
"de novo frameshift mutation (c.1005delC)"
] | [
"microphthalmia",
"congenital cataracts",
"congenital heart defect",
"canine radiculomegaly",
"digital anomalies",
"muscular hypotonia",
"clinical features of Duchenne muscular dystrophy",
"pseudohypertrophy of calf muscles",
"muscle weakness",
"multiple congenital anomalies",
"atrial septal def... | null | null | [
"elevated serum creatine phosphokinase"
] | [
"asymptomatic"
] |
duchenne:19439687 | Helmet ventilation for acute respiratory failure and nasal skin breakdown in neuromuscular disorders. | [
"Noninvasive ventilation (NIV) has been widely used to decrease the complications associated with tracheal intubation in mechanically ventilated patients with neuromuscular diseases in acute respiratory failure. However, nasal ulcerations might occur when masks are used as an interface. Helmet ventilation is a poss... | [
"<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 Noninvasive ventilation (NIV)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"neuromuscular diseases",
"Duchenne muscular dystrophy"
] | null | [
"decrease the complications associated with tracheal intubation",
"acute respiratory failure",
"nasal ulcerations",
"acute respiratory failure",
"nasal bridge skin necrosis",
"significant patient-ventilator asynchrony",
"improved gas exchange and patient-ventilator interaction"
] | [
"Noninvasive ventilation (NIV)",
"mechanically ventilated",
"Helmet ventilation",
"NIV",
"Helmet pressure support ventilation",
"biphasic positive airway pressure delivered by helmet",
"successful NIV"
] | null | null | [
"NIV intolerance"
] |
duchenne:19407036 | Is there a duty to share genetic information? | [
"A number of prominent bioethicists, such as Parker, Lucassen and Knoppers, have called for the adoption of a system in which by default genetic information is shared among family members. This paper suggests that a main reason given in support of this call to share genetic information among family members is the i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A number of prominent bioethicists, such as Parker, Lucassen and Knoppers, have called for the adoption of a system in which by default genetic information is shared among family members. This paper suggests that a main reason given in support of t... | null | [
"genetic information is essentially familial in nature",
"familial nature of genetics",
"genetic information is familial in nature"
] | null | null | null | null | null |
duchenne:19396825 | Homozygous female Becker muscular dystrophy. | [
"We report, for the first time, on a female Becker muscular dystrophy (BMD) patient with homozygous dystrophin deletion. The 14-year-old patient, product of consanguineous parents, presented with a 7-year history of exercise intolerance and recurrent myoglobinuria. Although CK was elevated to 1,800 U/L, no muscle w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report, for the first time, 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"Duchenne muscular dystrophy (DMD)",
"BMD",
"DMD",
"Turner syndrome",
"dystrophinopathy"
] | [
"homozygous dystrophin deletion",
"homozygous dystrophin deletion of exons 45-55, which is predicted to remove 593 amino acids without frame shifting",
"homozygous dystrophin mutation",
"homozygosity"
] | [
"7-year history",
"exercise intolerance",
"minimal dystrophic change",
"faint dystrophin staining pattern"
] | null | null | [
"recurrent myoglobinuria",
"CK was elevated to 1,800 U/L",
"306 kDa band"
] | [
"no muscle weakness, atrophy, or hypertrophy"
] |
duchenne:19365952 | [Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis]. | [
"Duchenne muscular dystrophy (DMD) is the most frequent inherited and lethal neuromuscular disorder in humans. Molecular prenatal diagnosis of DMD through amniocentesis is a real preventive reproductive option in our country, although experience with chorionic villus sampling is still limited (CVS).",
"Perform th... | [
"<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)",
"lethal neuromuscular disorder",
"DMD",
"Duchenne/Becker muscular dystrophy"
] | [
"inherited",
"obligate DMD",
"haplotype at-risk was identified",
"Identification of the DMD haplotype at-risk in the fetus",
"Absence of PCR products corresponding to Y chromosome-linked loci in DNA CVS sample",
"fetus"
] | null | [
"preventive reproductive option",
"Perform the first prenatal diagnosis in an obligate DMD carrier woman",
"CVS",
"CVS",
"early reproductive prevention strategy"
] | [
"Mexico"
] | null | [
"no partial intragenic deletions were present",
"did not identify any maternal DNA contamination",
"CVS molecular analysis"
] |
duchenne:19339795 | A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. | [
"X-linked adrenal hypoplasia congenita (AHC) is typically associated with DAX-1 mutations and hypogonadotropic hypogonadism. However, atypical cases of X-linked AHC in association with central precocious puberty and even normal puberty have rarely been reported, although the mechanism of action remains unknown.",
... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"adrenal hypoplasia congenita (AHC)",
"AHC",
"associated with Duchenne muscular dystrophy",
"AHC"
] | [
"X-linked",
"DAX-1 mutations",
"X-linked",
"X-linked AHC",
"X-linked",
"absence of the DAX-1 gene",
"loss of function' DAX-1 mutation",
"DAX-1",
"DAX-1"
] | [
"hypogonadotropic hypogonadism",
"central precocious puberty",
"central precocious puberty",
"hypogonadotropic hypogonadism",
"precocious",
"normal puberty",
"puberty",
"gonadal regulation"
] | null | null | null | [
"normal puberty"
] |
duchenne:19258295 | Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. | [
"Muscular dystrophies are inherited muscle disorders associated with different gene mutations. Fukuyama congenital muscular dystrophy is associated with cobblestone lissencephaly and epilepsy frequently. Rarely, other types of muscular dystrophies are also associated with epilepsy including Duchenne and Becker musc... | [
"<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 Muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Muscular dystrophies",
"inherited muscle disorders",
"Fukuyama congenital muscular dystrophy",
"muscular dystrophies",
"Duchenne and Becker muscular dystrophy",
"facioscapulohumeral dystrophy",
"congenital muscular dystrophy",
"limb-girdle muscular dystrophy 2A",
"limb-girdle muscular dystrophy typ... | [
"gene mutations",
"lamin A/C gene mutation"
] | [
"cobblestone lissencephaly",
"epilepsy",
"epilepsy",
"partial epilepsy"
] | null | null | [
"partial and complete deficiency of laminin alpha2 chain",
"calpain deficiency"
] | null |
duchenne:20369712 | A case of manifesting carrier with DMD phenotype. | [
"A case of a 35-year old female with a history of proximal weakness in lower limbs and bulkiness of both calves manifesting before ten years of age was reported. Clinical findings were suggestive of muscular dystrophy. Genetic analysis using polymerase chain reaction (PCR), single strand conformation polymorphism (... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A 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 35-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"muscular dystrophy",
"DMD type pathogenesis"
] | [
"several point mutations",
"dystrophin dysfunction"
] | [
"proximal weakness in lower limbs",
"bulkiness of both calves"
] | null | null | null | null |
duchenne:19073314 | An instructive case of an 8-year-old boy with intellectual disability. | [
"A child with global developmental delay sparing motor skills evolving into later intellectual disability with a consistently normal neuromuscular examination was discovered to have a dystrophin specific mutation in the 3' end of the gene. The deletion in the DMD gene was unsuspected and discovered through array co... | [
"<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... | [
"nonsyndromic mental retardation"
] | [
"dystrophin specific mutation in the 3' end of the gene",
"deletion in the DMD gene",
"DMD mutations"
] | [
"global developmental delay sparing motor skills",
"later intellectual disability",
"central nervous system-specific and restrictive phenotype",
"global developmental delay",
"intellectual disability"
] | null | null | null | [
"consistently normal neuromuscular examination",
"unsuspected",
"absence of any overt muscle weakness"
] |
duchenne:19063812 | Body composition and resting energy expenditure of individuals with Duchenne and Becker muscular dystrophy. | [
"The relationship between body composition and resting energy expenditure (REE) was investigated in two boys and two men with Duchenne muscular dystrophy (DMD) (ages 11 to 22.4 years) and two boys with Becker muscular dystrophy (BMD) (ages 7.75 and 13.75 years).",
"The REE was assessed by indirect calorimetry; bo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The relationship between body composition and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n resting energy expenditure (REE)\n <span style=\"font-size: ... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD",
"BMD",
"BMD",
"DMD",
"muscular dystrophy (MD)",
"MD"
] | null | [
"body composition indices (weight, height, skinfolds, and mid-arm circumference) were measured using standardized techniques",
"reduced corrected mid-upper-arm muscle area (C-MUMA)",
"approximately twice the subcutaneous fat levels",
"remarkably lower muscle status",
"mid-upper arm fat area (MUFA)",
"C-MU... | null | null | [
"REE was lower",
"C-MUMA"
] | null |
duchenne:19012301 | Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion. | [
"We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. S... | [
"<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 Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Becker muscular dystrophy (BMD)",
"severe Duchenne muscular dystrophy",
"milder BMD"
] | [
"in-frame deletion of exons 45-55",
"exons 45-55"
] | [
"asymptomatic"
] | [
"multiexon skipping",
"antisense gene therapy"
] | null | null | null |
duchenne:18929032 | Convexity of scoliosis related to handedness in identical twin boys with Duchenne's muscular dystrophy: a case report. | [
"The interplay between hand dominance and directionality of scoliosis in boys with Duchenne's muscular dystrophy (DMD) is not clearly defined. We describe an extremely rare presentation of monozygotic twin boys with DMD and opposing hand dominance who developed major spine curvature with opposite convexities. The u... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The interplay between hand dominance and directionality \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of scoliosis\n <span style=\"font-size: 0.8em; fon... | [
"Duchenne's muscular dystrophy (DMD)",
"progressive neuromuscular disease",
"scoliosis",
"neuromuscular scoliosis",
"DMD",
"neuromuscular scoliosis"
] | null | [
"of scoliosis",
"opposing hand dominance",
"major spine curvature with opposite convexities"
] | [
"conservative, surgical"
] | null | null | null |
duchenne:18833644 | Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family. | [
"Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value ... | [
"<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 Familial hyperCKemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"combination with Duchenne muscular dystrophy (DMD)"
] | [
"identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene"
] | [
"muscle weakness",
"typical signs of DMD",
"early onset of symptoms"
] | null | null | [
"Familial hyperCKemia",
"markedly elevated serum creatine kinase (CK) value",
"familial hyperCKemia"
] | [
"without any clinical symptoms or signs",
"nor a defect in caveolin-3 gene"
] |
duchenne:18815187 | Complete atrioventricular block in Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. It is characterized by progressive muscle wasting and weakness of variable distribution and severity. Heart is involved leading to heart failure. Conduction abnormalities are unusual. W... | [
"<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"
] | [
"inherited myogenic disorder",
"mutations in the dystrophin gene on chromosome Xp21.1"
] | [
"progressive muscle wasting",
"weakness of variable distribution and severity",
"Heart is involved",
"heart failure",
"Conduction abnormalities",
"complete atrio-ventricular block"
] | null | null | null | null |
duchenne:18792556 | Use of remifentanil and propofol without muscle relaxant combined with intrathecal morphine in children with Duchenne's muscular dystrophy undergoing spinal surgery. | [
"Duchenne's muscular dystrophy (DMD) is the most common and severe form of myopathy occurring in pediatric patients. Sensitivity of patients with DMD to sedative, anesthetic and neuromuscular blocking agents may result in intraoperative and early postoperative cardiovascular and respiratory complications, as well 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 Duchenne's muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne's muscular dystrophy (DMD)",
"myopathy",
"DMD",
"DMD",
"DMD"
] | null | [
"intraoperative and early postoperative cardiovascular and respiratory complications",
"prolonged recovery from anesthesia",
"uneventful",
"Controlled hypotension",
"rapid recovery",
"uneventful postoperative period",
"controlled hypotension",
"rapid recovery",
"uneventful postoperative period"
] | [
"sedative, anesthetic and neuromuscular blocking agents",
"total intravenous anesthesia technique (TIVA) with remifentanil and propofol without muscle relaxants",
", associated with intrathecal morphine",
"posterior spinal surgery (PSS)",
"Tracheal intubation",
"tracheal intubation",
"anesthesia techniq... | null | null | null |
duchenne:18706718 | Cardiac involvement in a female carrier of Duchenne muscular dystrophy. | [
"A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnet... | [
"<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 42 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"subacute myocarditis"
] | [
"frameshift duplication of exon 2"
] | [
"non-sustained ventricular tachycardia",
"severely reduced left ventricular function (LVF)",
"transmural, intramural and subepicardial late gadolinium enhancement",
"severe myopathic changes",
"attenuate cardiac degradation",
"improved clinically",
"LVF was still severely reduced"
] | [
"conventional heart failure therapy",
"implantable cardioverter/defibrillator-implantation",
"prednisolone"
] | null | [
"abnormal expression of dystrophin and utrophin"
] | [
"Coronary artery disease was excluded",
"excluded viral infection"
] |
duchenne:18684626 | Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype. | [
"We report a 12-year-old patient with mental impairment and proximal muscle weakness who had marked involvement of the shoulder girdle and facial muscles. CK levels were above 7000 U/l, multiplex PCR dystrophin gene deletion screening was negative. Further molecular studies revealed shortened D4Z4 fragments in the ... | [
"<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 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"facioscapulohumeral muscular dystrophy (FSHD)",
"Becker's muscular dystrophy along with FSHD"
] | [
"shortened D4Z4 fragments",
"donor splice site mutation (c.4071+1 G>T)"
] | [
"mental impairment",
"proximal muscle weakness",
"marked involvement of the shoulder girdle and facial muscles"
] | null | null | [
"CK levels were above 7000 U/l",
"marked dystrophin deficiency"
] | [
"multiplex PCR dystrophin gene deletion screening was negative"
] |
duchenne:18639760 | Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion. | [
"We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and the product for exon 43 was dete... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Becker muscular dystrophy",
"Turner mosaicism",
"Turner syndrome",
"Turner mosaic"
] | [
"45,X/46,X,r(X)",
"out-of-frame deletion in a nonhot-spot region of the DMD gene",
"the deleted exons 31-42 comprise a nonhot-spot region",
"product for exon 43 was detected",
"amplification of the DMD gene in the ring X chromosome, affecting 24% of cells",
"somatic mutation",
"for exons 31-43",
"pres... | null | null | null | [
"dystrophin deficiency"
] | [
"did not detect the deletion",
"did not conform to the reading-frame rule"
] |
duchenne:18617862 | Pneumothorax associated with mechanical insufflation-exsufflation and related factors. | [
"Impaired cough that results in ineffective airway secretion clearance is an important contributor to pulmonary complications in patients with neuromuscular weakness including spinal cord injury. Mechanical insufflation-exsufflation (MI-E) is a respiratory aid used by patients with weak respiratory muscles to incre... | [
"<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 Impaired cough\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"neuromuscular weakness",
"spinal cord injury",
"pneumothorax",
"pneumothorax",
"C4 ASIA C tetraplegia",
"Duchenne muscular dystrophy",
"pneumothorax"
] | null | [
"Impaired cough",
"pulmonary complications",
"weak respiratory muscles",
"increase cough peak flows",
"improve cough effectiveness",
"pneumothorax",
"respiratory muscle weakness",
"increasing dyspnea"
] | [
"Mechanical insufflation-exsufflation (MI-E)",
"respiratory aid",
"MI-E",
"MI-E use",
"daily use of MI-E",
"used positive-pressure ventilatory assistance",
"ventilator users",
"MI-E",
"increasing positive inspiratory pressures",
"noninvasive ventilation"
] | null | null | [
"ineffective airway secretion clearance"
] |
duchenne:18599910 | Percutaneous arterial closure for inadvertent cannulation of the subclavian artery--a call for caution. | [
"An uncommon occurrence during central venous catheterization, inadvertent arterial sheath placement can cause potentially serious complications. When the subclavian artery is inadvertently cannulated, catheter removal may be complicated by significant hemorrhage due to its noncompressible location. We report a cas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An uncommon occurrence during \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n central venous catheterization\n <span style=\"font-size: 0.8em; font-weight... | [
"severe kyphoscoliosis",
"Duchenne muscular dystrophy",
"cardiomyopathy"
] | null | [
"inadvertent arterial sheath placement",
"significant hemorrhage",
"noncompressible location",
"restoration of flow"
] | [
"inadvertently cannulated",
"catheter removal",
"inadvertent insertion of a 7 Fr central venous catheter into the subclavian artery",
"The catheter",
"balloon inflation via an already present sheath in the brachiocephalic artery",
"successful closure at the puncture site with the collagen-based vascular c... | null | null | [
"subclavian artery",
"initial attempt at closure device deployment resulted in abrupt closure of the subclavian artery",
"poor candidate for open surgical repair"
] |
duchenne:18586493 | Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy. | [
"This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report describes a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"concomitant genetically-confirmed",
"Duchenne muscular dystrophy",
"facioscapulohumeral muscular dystrophy"
] | [
"novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb"
] | null | null | null | null | null |
duchenne:18581080 | Wolff-Parkinson-White syndrome as initial manifestation of Becker muscular dystrophy. | [
"Cardiac involvement may precede the onset of muscular manifestations in Becker muscular dystrophy (BMD), but Wolff-Parkinson-White (WPW) syndrome has not been reported as initial cardiac manifestation of BMD.",
"In a 43-year-old, HIV-negative male, WPW syndrome was diagnosed at age 26 years upon a routine surfac... | [
"<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.... | [
"Becker muscular dystrophy (BMD)",
"Wolff-Parkinson-White (WPW) syndrome",
"BMD",
"WPW syndrome",
"WPW syndrome",
"intermittent WPW syndrome",
"BMD"
] | [
"deletion of exons 45-47 in the dystrophin gene"
] | [
"Cardiac involvement",
"muscular manifestations",
"initial cardiac manifestation",
"recurrent palpitations",
"proximal muscle weakness predominantly of the lower limbs",
"positive Gower sign",
"waddling gait",
"cardiac involvement",
"evident skeletal muscle abnormalities"
] | [
"Radiofrequency catheter ablation"
] | null | null | [
"HIV-negative",
"initially refused by the patient",
"no accessory pathways were detected on electrophysiological investigations"
] |
duchenne:18487280 | Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. | [
"direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or whole-gene deletions. Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy n... | [
"<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 direct DNA sequencing\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"metabolic and mitochondrial disorders",
"progressive familial intrahepatic cholestasis",
"recessive disease"
] | [
"major changes in chromosomal copy number",
"copy number change",
"intragenic exonic deletions",
"heterozygous single-exon deletion of 4.5 kb in the SLC25A13 gene [solute carrier family 25, member 13 (citrin)]",
"homozygous 10.5-kb deletion of exons 13-17 in the ABCB11 gene [PFIC2, ATP-binding cassette, sub... | null | [
"custom oligonucleotide-based microarray",
"high-density"
] | null | [
"citrin deficiency",
"OTC deficiency"
] | [
"does not detect intragenic or whole-gene deletions"
] |
duchenne:18468552 | [Increased troponin I level in a Duchenne muscular dystrophy patient with normal coronarography]. | [
"Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by a progressive skeletal muscular weakness. As the respiratory care of such patients has been dramatically improved during the past few years, the DMD associated cardiomyopathy is becoming a new concern. We report a clinical case of a Trop... | [
"<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)",
"neuromuscular disease",
"DMD",
"cardiomyopathy",
"DMD"
] | null | [
"progressive skeletal muscular weakness",
"acute episode of respiratory failure"
] | null | null | [
"Troponin I level increase",
"cardiomyocytes to hypoxemia"
] | [
"normal coronarography"
] |
duchenne:18430534 | A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness. | [
"Duchenne muscular dystrophy (DMD) is caused by mutation of the dystrophin gene. Cases of dystrophinopathy with a 2-bp deletion in the dystrophin gene commonly result in DMD. We report here a case of dystrophinopathy in a 9-years-old boy with a 2-bp deletion in exon 74 of the dystrophin gene; however, the boy had n... | [
"<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)",
"dystrophinopathy",
"DMD",
"dystrophinopathy"
] | [
"mutation of the dystrophin gene",
"2-bp deletion in the dystrophin gene",
"2-bp deletion in exon 74 of the dystrophin gene",
"mutation is located between the binding sites of alpha-syntrophin and alpha-dystrobrevin"
] | null | null | null | null | [
"no clear clinical signs of muscle weakness",
"the studies with C-terminus anti-dystrophin antibody (DYS2) were negative",
"not clearly induce muscle weakness"
] |
duchenne:18363165 | Two non-contiguous duplications in the DMD gene in a Spanish family. | [
"DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-dup... | [
"<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 DMD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-a... | [
"DMD",
"BMD",
"myopathy diseases"
] | [
"X-linked",
"intragenic deletions",
"duplications",
"complex duplication pattern"
] | null | null | null | null | null |
duchenne:18359022 | Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification. | [
"To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for female carriers with Duchenne muscular dystrophy (DMD).",
"MDA was used to amplify a whole genome of single cells. Following the setup on single cells, the test was applied in two clinical cases of PGD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To evaluate the use 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 multiple displacement amplification (MDA)\n <span style=\"font-size: 0.8em; font-we... | [
"Duchenne muscular dystrophy (DMD)",
"PGD",
"DMD",
"DMD",
"DMD"
] | [
"One mutant exon, six short tandem repeats (STR) markers within the dystrophin gene",
"amelogenin"
] | null | [
"Center for reproductive medicine in First Affiliated Hospital",
"Sun Yat-sen University",
"MDA",
"PGD"
] | [
"China"
] | null | null |
duchenne:18261911 | Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene. | [
"We review the clinical status of skeletal involvement and cardiac function in three unrelated patients harboring an in-frame deletion of exons 45 to 55 in the DMD gene followed up for 2 to 7 years. Two younger patients diagnosed as having X-linked dilated cardiomyopathy (XLDCM) developed congestive heart failure w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We review the clinical status 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 skeletal involvement\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"X-linked dilated cardiomyopathy (XLDCM)",
"viral infection",
"Becker muscular dystrophy",
"XLDCM",
"dystrophinopathy",
"XLDCM"
] | [
"in-frame deletion of exons 45 to 55 in the DMD gene"
] | [
"skeletal involvement",
"cardiac function",
"congestive heart failure",
"Heart failure",
"limb-girdle muscular atrophy",
"weakness",
"Skeletal muscle involvement"
] | [
"diuretics",
"angiotensin-converting enzyme inhibitors",
"cardiac management"
] | null | null | [
"without overt skeletal myopathy",
"did not have any cardiac symptoms",
"remained unchanged",
"cardiac function did not worsen"
] |
duchenne:18160999 | Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy. | [
"Mutations in the dystrophin gene result in the most common inherited muscle disease, Duchenne muscular dystrophy (DMD). Duplications spanning one or more exons have been found to be the second most common disease-causing mutation in the dystrophin gene. Although the duplicated exons are commonly thought to be arra... | [
"<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 Mutations in the dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"inherited muscle disease",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"Mutations in the dystrophin gene",
"Duplications spanning one or more exons",
"dystrophin gene",
"the duplicated exons",
"arranged in tandem",
"rare noncontiguous exon duplications",
"noncontiguous duplications in the dystrophin gene",
"the duplicated exons",
"the extra copies of exons 45-48 and ex... | null | null | [
"Japanese"
] | null | null |
duchenne:18059093 | Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes. | [
"Short stature is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mut... | [
"<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 Short stature\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD"
] | [
"G367A mutation in the short stature homeobox containing (SHOX) gene located in the Xp22.3 region",
"genetic alteration"
] | [
"Short stature",
"short brother",
"(-2.2 SDS",
"abnormal growth",
"short stature"
] | null | null | null | [
"no abnormality was found in the brother with normal height (-0.1 SDS)"
] |
duchenne:18059005 | DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. | [
"The degenerative muscle diseases Duchenne (DMD) and Becker muscular dystrophy result from mutations in the DMD gene, which encodes the dystrophin protein. Recent improvements in mutational analysis techniques have resulted in the increasing identification of deep intronic point mutations, which alter splicing such... | [
"<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 degenerative muscle diseases Duchenne (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"degenerative muscle diseases Duchenne (DMD)",
"Becker muscular dystrophy",
"dystrophinopathy",
"Becker muscular dystrophy",
"DMD",
"DMD",
"Becker muscular dystrophy"
] | [
"mutations in the DMD gene",
"the dystrophin protein",
"deep intronic point mutations",
"alter splicing such that intronic sequences are included in the messenger RNA as \"pseudoexons",
"pseudoexon insertion mutations",
"out-of-frame pseudoexon mutations",
"pseudoexon skipping",
"out-of-frame pseudoex... | [
"dystrophinopathy"
] | [
"antisense oligonucleotide (AON)-mediated pseudoexon skipping",
"AONs composed of 2'-O-methyl-modified bases on a phosphorothioate backbone",
"AON treatment directed at the pseudoexon",
"AON-mediated pseudoexon skipping therapy"
] | null | [
"increased expression of wild-type dystrophin protein"
] | null |
duchenne:18054699 | Muscle pain as the only presenting symptom in a girl with dystrophinopathy. | [
"We present a family with dystrophinopathy in whom the proband is a female aged 4.5 years, who presented with exertional muscle pain without weakness. Familial analysis identified a maternal nephew of the proband who demonstrated a similar clinical picture, with asymptomatic cardiomyopathy. A DNA analysis revealed ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with dystrophinopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"dystrophinopathy"
] | [
"in-frame deletion in the proximal part of domain II of the dystrophin gene"
] | [
"exertional muscle pain",
"asymptomatic cardiomyopathy",
"exertional muscle pain"
] | null | null | null | [
"without weakness"
] |
duchenne:18031759 | Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India. | [
"A six year old boy presented with classical features of Duchenne Muscular Dystrophy (DMD) and was confirmed by absent dystrophin staining on muscle biopsy. In the paternal line there were 5 affected individuals across two generations with classical DMD. There was no family history of the illness in the maternal li... | [
"<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 six year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | null | [
"deletion in exon 45 in two affected individuals",
"though the deletion was observed in the same locus in exon 45 it is a new independent mutation"
] | [
"classical features of Duchenne Muscular Dystrophy (DMD)"
] | null | null | [
"absent dystrophin staining"
] | null |
duchenne:17937854 | [Complex glycerol kinase deficiency in three children]. | [
"Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci or both. Its c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Glycerol kinase deficiency (GKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Glycerol kinase deficiency (GKD)",
"Complex GKD",
"GKD",
"Duchenne muscular dystrophy"
] | [
"rare X-linked recessive disorder",
"Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci"
] | [
"relieved symptoms of hypoadrenocorticism",
"significant developmental delays",
"myasthenia",
"died",
"adrenal crisis"
] | [
"receiving a low fat diet and glucocorticoid replacement"
] | null | [
"elevated urinary glycerol concentration",
"hypoadrenocorticism",
"glyceroluria"
] | null |
duchenne:17898376 | Postoperative hyperthermia, rhabdomyolysis, critical temperature, and death in a former premature infant after his ninth general anesthetic. | [
"An 8-mo-old infant born at 24-wk of gestation died unexpectedly 12 h after his ninth uneventful general anesthetic. Preoperatively, he required low-flow nasal oxygen due to bronchopulmonary dysplasia, chronic diuretic therapy, and IV alimentation. As planned preoperatively, the infant remained tracheally intubated... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 8-mo-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"bronchopulmonary dysplasia",
"postoperative sepsis",
"Duchenne's muscular dystrophy"
] | null | [
"died",
"fever",
"death"
] | [
"born at 24-wk of gestation",
"ninth uneventful general anesthetic",
"Preoperatively",
"low-flow nasal oxygen",
"chronic diuretic therapy",
"IV alimentation",
"remained tracheally intubated after his elective surgery",
"went to the Neonatal Intensive Care Unit"
] | null | null | null |
duchenne:17885635 | Enhancing success in transition service coordinators: use of transformational leadership. | [
"The lifespan of children with special healthcare needs has been extended because of improved technology and medical advances. Successful transition to the adult arena of healthcare, social services, and education by adolescents with special healthcare needs (ASHCN) is lacking. The transition service coordinator (T... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The lifespan 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 children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | null | null | null | [
"Successful transition to the adult arena of healthcare, social services, and education",
"transition service coordinator (TSC)",
"advanced practice nursing",
"highly specialized transition services to adolescents",
"special healthcare needs",
"transformational leadership theory",
"pediatric and adult p... | null | null | null |
duchenne:17880576 | Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. | [
"We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders--Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating pe... | [
"<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 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"unusual combination of two inherited neuromuscular disorders--Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD)",
"combination of CMT1A and DMD"
] | [
"CMT1A duplication on chromosome 17p11.2",
"frame-shift mutation c.3609-3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene"
] | [
"features of both these disorders",
"demyelinating peripheral neuropathy",
"profound myogenic pattern",
"dystrophic picture"
] | null | null | [
"serum creatine kinase level was highly elevated",
"deficient dystrophin immunostaining"
] | null |
duchenne:17719224 | Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy. | [
"Myoglobinuria is a recognised complication of Duchenne muscular dystrophy (DMD), but has only once been reported in ambulant boys on corticosteroid therapy [Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F. Remission of clinical signs in early Duchenne muscular dystrophy on intermittent low-dosage prednisolone 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 Myoglobinuria\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"early Duchenne muscular dystrophy"
] | null | [
"Remission of clinical signs",
"improved motor performance",
"dystrophin-deficient muscles under greater mechanical stress",
"muscle fibre damage"
] | [
"corticosteroid therapy",
"intermittent low-dosage prednisolone therapy",
"prednisolone-treated",
"introduction of corticosteroids",
"steroid-treated"
] | null | [
"Myoglobinuria",
"myoglobinuria",
"myoglobinuria",
"myoglobinuria"
] | null |
duchenne:17707891 | Nephrolithiasis in patients with duchenne muscular dystrophy. | [
"To present the first series of patients with Duchenne muscular dystrophy (DMD) and nephrolithiasis.",
"A retrospective chart review was done to identify patients with DMD who were referred for urologic consultation because of nephrolithiasis from June 2004 to April 2006.",
"Four patients were identified with D... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To present the first series of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: ... | [
"Duchenne muscular dystrophy (DMD)",
"nephrolithiasis",
"DMD",
"nephrolithiasis",
"DMD",
"nephrolithiasis",
"stones",
"Stone disease",
"DMD",
"DMD",
"nephrolithiasis"
] | null | [
"relatively small stone burden"
] | [
"treatment",
"immobilization",
"corticosteroid use"
] | null | null | [
"stones were passed but not retrieved"
] |
duchenne:17566456 | Language disturbances in a group of participants suffering from Duchenne muscular dystrophy: a pilot study. | [
"Results from several studies suggest that the process of language acquisition may be altered in patients suffering from Duchenne Muscular Dystrophy. In this study, a group of 8 male participants with Duchenne Muscular Dystrophy (M age = 16 yr., SD = 4.7) underwent an extensive neuropsychological and language asses... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Results from several studies suggest that the process of language acquisition may be altered in patients suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35e... | [
"Duchenne Muscular Dystrophy",
"Duchenne Muscular Dystrophy"
] | null | [
"mild mental retardation",
"deficit in Verbal rather than Performance IQ",
"moderate to severe difficulties on oral language processing",
"impaired morphosyntactic competence"
] | null | null | null | null |
duchenne:17523119 | [Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy]. | [
"Complex glycerol kinase (GK) deficiency is a contiguous deletion of genes in Xp21 with loss of the locus for GK, for congenital adrenal hypoplasia (AHC) and/or for Duchenne's muscular dystrophy (DMD). We report the case of a 7-year-old patient with this rare disease.",
"Our patient was a full-term male, with nor... | [
"<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 (GK) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"congenital adrenal hypoplasia (AHC)",
"Duchenne's muscular dystrophy (DMD)",
"AHC"
] | [
"contiguous deletion of genes in Xp21 with loss of the locus for GK",
"deletion in Xp21 of the genes responsible for DMD"
] | [
"salt loss",
"lethargy",
"vomiting",
"moderate mental retardation",
"progressive muscular weakness",
"the skull and face were seen to be 'hourglass' shaped",
"Decompensations associated to infectious processes",
"hydroelectrolytic disorders",
"'",
"myopathic pattern",
"acute metabolic decompensa... | [
"Fluid therapy",
"treatment with corticoids",
"genetic counselling"
] | null | [
"Complex glycerol kinase (GK) deficiency",
"metabolic acidosis",
"hypoglycaemia",
"hyponatraemia",
"hyperpotassaemia",
"fasting hypoglycaemia",
"ketoacidosis",
"drop in cortisol levels",
"elevation of muscle enzymes",
"pseudohypertriglyceridaemia",
"raised levels of glycerol in plasma and urine"... | [
"normal gestation and delivery",
"no relevant family history",
"Karyotype and neuroimaging tests were normal"
] |
duchenne:17487818 | [The punctum plug as an option for treating retrograde air flow from the lacrimal sac]. | [
"The causes of keratoconjunctivitis sicca are multifarious. Major causes include eyelid anomalies, Sjögren's disease, injuries, radiation or mucin deficiency. In our case, nasal positive airway pressure due to muscular dystrophy is described as another possible cause.",
"A 32-year-old male patient with advanced D... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The causes 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 keratoconjunctivitis sicca\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"keratoconjunctivitis sicca",
"Sjögren's disease",
"advanced Duchenne muscular dystrophy",
"chronic dry eye syndrome"
] | null | [
"eyelid anomalies",
"injuries",
"radiation",
"muscular dystrophy",
"loss of the auxiliary respiratory muscles",
"permanent air flow from the lower right lacrimal point",
"epiphora",
"keratoconjunctivitis sicca on the right side",
"marked improvement of the findings",
"markedly reduce the unpleasan... | [
"nasal positive airway pressure",
"nasal continuous positive airway pressure ventilation",
"reversibly occluded the lower lacrimal duct with a punctum plug flow regulator",
"lacrimal flow regulator",
"0.8 and 0.9 mm",
"inserted into the punctal aperture",
"soft silicone plug is delivered with a disposab... | null | [
"mucin deficiency",
"regulates the flow of lacrimal fluid"
] | null |
duchenne:17450436 | Birth after transfer of frozen-thawed vitrified biopsied blastocysts. | [
"To present a case describing the birth of a healthy female after the replacement of vitrified biopsied embryos after Preimplantation Genetic Diagnosis.",
"A descriptive case report of a single patient.",
"Our patient carrier of an X-linked disease became pregnant and as a result a healthy girl was born.",
"T... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To present a case describing the birth of a healthy \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: ... | null | [
"carrier of an X-linked disease"
] | null | [
"replacement of vitrified biopsied embryos",
"Preimplantation Genetic Diagnosis",
"pregnant",
"blastocysts",
"cryopreserved",
"secure and low-cost vitrification method using a Hemi-straw support"
] | null | null | null |
duchenne:17385798 | Rapid prenatal diagnosis of Duchenne muscular dystrophy with gene duplications by ion-pair reversed-phase high-performance liquid chromatography coupled with competitive multiplex polymerase chain reaction strategy. | [
"Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by various mutations in the dystrophin gene. Rapid prenatal diagnosis of DMD with gene duplications is difficult due to limitation in gene dosage determination and the requirement for a known disease-causing mutation in the pedigree 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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD",
"DMD",
"DMD/BMD",
"DMD"
] | [
"various mutations in the dystrophin gene",
"gene duplications",
"disease-causing mutation",
"gene duplications",
"disease-causing DNA variants"
] | null | null | null | null | [
"absence of a known disease-causing variation in the pedigree"
] |
duchenne:17300882 | Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. | [
"The McLeod phenotype is derived from various forms of XK gene defects that result in the absence of XK protein, and is defined hematologically by the absence of Kx antigen, weakening of Kell system antigens, and red cell acanthocytosis. Individuals with the McLeod phenotype usually develop late-onset neuromuscular... | [
"<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 McLeod phenotype\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"McLeod phenotype",
"McLeod",
"McLeod syndrome (MLS)",
"MLS",
"multi-system disorder",
"Duchenne muscular dystrophy (DMD)",
"chronic granulomatous disease (CYBB)",
"retinitis pigmentosa (RPGR)",
"McLeod phenotype"
] | [
"XK gene defects",
"X-linked",
"absence of XK alone",
"large deletions",
"XK defects",
"large deletion at the XK locus (Xp21.1)",
"extensive deletions",
"greater than 1.12 million base-pairs (mb) deletion around the XK locus with 7 genes affected",
"greater than 5.65 mb deletion from TCTE1L to DMD e... | [
"late-onset neuromuscular abnormalities"
] | null | null | [
"absence of XK protein",
"absence of Kx antigen",
"weakening of Kell system antigens",
"red cell acanthocytosis",
"ornithine transcarbamylase deficiency (OTC)"
] | null |
duchenne:17226814 | Deletion of exon 16 of the dystrophin gene is not associated with disease. | [
"The DNA of a male harbored a deletion of exon 16 as well as most of introns 15 and 16 of the dystrophin gene. The person was completely healthy, with universal normal muscle strength, and normal muscle histology and creatine kinase levels. The deletion was also present in DNA from a muscle biopsy, excluding mosaic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The DNA 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"dystrophinopathy"
] | [
"deletion of exon 16 as well as most of introns 15 and 16 of the dystrophin gene",
"the protein segment encoded by exon 16 of the dystrophin gene",
"large gene re-arrangements of the dystrophin gene",
"single exon in-frame deletions"
] | null | null | null | null | [
"universal normal muscle strength",
"normal muscle histology and creatine kinase levels",
"excluding mosaicism",
"is of no importance for the essential function of dystrophin"
] |
duchenne:17187273 | Medulloblastoma in a child with Duchenne muscular dystrophy. | [
"A 7-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) presented with clinical features of raised intracranial tension. A CT scan revealed an enhancing vermian mass extending on to the fourth ventricle, which was excised and reported to be medulloblastoma. The patient was treated with craniospinal radio... | [
"<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 7-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy (DMD)",
"medulloblastoma",
"Neoplasms",
"DMD",
"medulloblastoma",
"neoplasms",
"DMD",
"round cell tumors"
] | null | [
"clinical features of raised intracranial tension",
"enhancing vermian mass extending on to the fourth ventricle"
] | [
"craniospinal radiotherapy"
] | null | null | null |
duchenne:17143888 | Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. | [
"We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplicatio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"duplication of DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective splicing"
] | [
"intractable seizures",
"severe mental retardation",
"marked macroglossia",
"endocrinologic abnormalities",
"delayed puberty",
"adrenal hypoplasia"
] | null | null | [
"growth hormone deficiency"
] | [
"A coincident mutation in the FKRP gene was excluded by direct sequencing",
"Complex DNA rearrangements, deletions, and duplications >100 kb were excluded",
"microarray-comparative genomic hybridization (CGH)",
"were not able to exclude a second coincident mutation"
] |
duchenne:17113013 | Cardiomyopathy with a unique finding of bicuspid aortic valve in Becker's muscular dystrophy. | [
"We describe a patient with Becker's muscular dystrophy and cardiac failure caused by a combination of dilated cardiomyopathy and congenital bicuspid aortic valve with aortic stenosis. There is no documented association between congenital valve disease and human dystrophinopathies, and to our knowledge, this is the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 Becker's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Becker's muscular dystrophy",
"congenital valve disease",
"human dystrophinopathies"
] | null | [
"cardiac failure",
"dilated cardiomyopathy",
"congenital bicuspid aortic valve with aortic stenosis"
] | null | null | null | null |
duchenne:17080500 | Unexplained acidosis of malnutrition: a study by ion-exchange chromatography/mass spectrometry. | [
"Keto-acidosis is usually associated with uncontrolled diabetes and typically poses few diagnostic problems when presenting as hyperglycaemia, metabolic acidosis and a high anion gap. An emaciated patient suffering from Duchenne Muscular Dystrophy and volume depletion presented with acidosis of unknown origin. Prel... | [
"<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 Keto-acidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Keto-acidosis",
"uncontrolled diabetes",
"Duchenne Muscular Dystrophy",
"keto-acidosis"
] | null | [
"emaciated",
"volume depletion",
"acidosis of unknown origin",
"the profile typical of that seen in 'unexplained' acidosis",
"starvation",
"dehydration",
"chronic malnutrition",
"minimal muscle mass",
"prompt resolution of the patient's metabolic acidosis"
] | [
"combination of enteral feeding and rehydration"
] | null | [
"hyperglycaemia",
"metabolic acidosis",
"high anion gap",
"acidosis due to base loss",
"acidosis",
"elevated levels of acetoacetate and hydroxybutyrate"
] | [
"rule out lactic acidosis",
"diabetic keto-acidosis",
"no evidence of lactic acidosis"
] |
duchenne:17077629 | Non-compaction on autopsy in Duchenne muscular dystrophy. | [
"Left ventricular hypertrabeculation (LVHT)/non-compaction is frequently associated with neuromuscular disorders. Recently, LVHT has been detected in a 28-year patient with Duchenne muscular dystrophy. Here, the patho-anatomic findings of this patient are presented, which showed LVHT located within in the apex and ... | [
"<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 (LVHT)/non-compaction\n <span style=\"font-size: 0.8em; font-weight: b... | [
"neuromuscular disorders",
"LVHT",
"Duchenne muscular dystrophy",
"LVHT",
"neuromuscular disorders"
] | null | [
"Left ventricular hypertrabeculation (LVHT)/non-compaction",
"LVHT located within in the apex and the anterior and lateral wall, being the most demanded segments during systole",
"aberrant bands and false tendons",
"LVHT"
] | null | null | null | [
"The septum and the left ventricular outflow tract were not involved"
] |
duchenne:17066863 | [Anesthesia with sevoflurane for tonsillectomy in a boy with Duchenne muscular dystrophy]. | [
"A 6-year-old boy with Duchenne muscular dystrophy (DMD) and foreseen difficult tracheal intubation underwent tonsillectomy under general inhaled anesthesia with sevoflurane. No neuromuscular blockers were administered and no perioperative complications emerged. In spite of advances in genetic diagnosis there conti... | [
"<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 6-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"rhabdomyolysis",
"malignant hyperthermia"
] | [
"spontaneous mutation of the dystrophin gene"
] | [
"fatal reactions",
"rhabdomyolysis",
"malignant hyperthermia"
] | [
"tonsillectomy",
"general inhaled anesthesia with sevoflurane",
"succinylcholine",
"Total intravenous anesthesia",
"general anesthesia",
"Inhaled anesthesia",
"halogenated agents",
"sevoflurane",
"sevoflurane induction",
"safe tracheal intubation"
] | null | [
"hyperpotassemia"
] | [
"foreseen difficult tracheal intubation",
"No neuromuscular blockers were administered",
"no perioperative complications"
] |
duchenne:17053635 | Home accessibility and adaptive equipment in duchenne muscular dystrophy: a case report. | [
"This case report describes the history of a 26-year-old man with Duchenne muscular dystrophy. The report includes descriptions of the natural progression of his physical disability and the adaptive equipment and home modifications that were used to maintain independence.",
"The transition from childhood to adult... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report describes the history 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 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"physical disability"
] | [
"adaptive equipment and home modifications",
"physical therapy care plan",
"use of assistive technology to maintain independence in mobility and to minimize or to facilitate caregiver assistance",
"properly fitting and functioning equipment",
"comprehensive plan of care"
] | null | null | null |
duchenne:17035337 | Spinal fusion surgery in children with non-idiopathic scoliosis: is there a need for routine postoperative ventilation? | [
"The perioperative management of children with non-idiopathic scoliosis undergoing spinal deformity surgery has not been standardized and the current practice is to routinely ventilate these patients in the postoperative period. This study reports the experience from a single institution and evaluates the need and ... | [
"<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 perioperative management\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"non-idiopathic scoliosis",
"non-idiopathic scoliosis",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"non-idiopathic scoliosis",
"neuromuscular disease"
] | null | [
"perioperative adverse events",
"preoperative forced vital capacity <30%",
"cardiopulmonary co-morbidity"
] | [
"perioperative management",
"spinal deformity surgery",
"routinely ventilate",
"postoperative period",
"postoperative ventilation",
"ventilated",
"spinal fusion surgery",
"anaesthetized",
"postoperative need for ventilation",
"safely extubated at the end of surgery",
"postoperative ventilation",... | null | null | [
"without any further complications or need for re-ventilation"
] |
duchenne:17024373 | A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. | [
"Production of semi-functional dystrophin mRNA from the dystrophin gene encoding a premature stop codon has been shown to modify the severe phenotype of Duchenne muscular dystrophy (DMD). In this study, we report the tissue-specific production of semi-functional dystrophin mRNA via activation of a nonsense mutation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Production 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 semi-functional dystrophin mRNA from the dystrophin gene encoding a premature stop codon\n <... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"semi-functional dystrophin mRNA from the dystrophin gene encoding a premature stop codon",
"activation of a nonsense mutation-created intraexonic splice acceptor site",
"novel nonsense mutation was identified in exon 42",
"semi-functional dystrophin mRNA with a 63-nucleotide deletion in exon 42 (dys-63)",
... | null | null | null | null | null |
duchenne:17005398 | Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy. | [
"We report the use of continuous intravenous inotrope infusion as a palliative management strategy for the treatment of symptomatic, refractory, end stage cardiac dysfunction in patients with Duchenne muscular dystrophy. Milrinone and/or dobutamine administered by continuous intravenous infusion provided symptomati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the use 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 continuous intravenous inotrope infusion\n <span style=\"font-size: 0.8em; font-weigh... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"severe dilated cardiomyopathy",
"Duchenne muscular dystrophy"
] | null | [
"symptomatic, refractory, end stage cardiac dysfunction",
"symptomatic and objective cardiovascular improvement",
"up to 30 months",
"end stage cardiac dysfunction"
] | [
"continuous intravenous inotrope infusion",
"palliative management strategy",
"Milrinone and/or dobutamine administered by continuous intravenous infusion",
"Continuous inotrope infusion"
] | null | null | [
"cardiac transplantation is not a viable option"
] |
duchenne:16970060 | Duchenne's cardiomyopathy: two case reports. | [
"We describe two cases of Duchenne's cardiomyopathy with severe cardiac dysfunction, sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. Left ventriculography showed diffuse severe hypokinesia. Skeletal mus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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's cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne's cardiomyopathy",
"dystrophic process"
] | null | [
"severe cardiac dysfunction",
"sporadic episodes of myoglobinuria",
"induced by effort",
"Very mild signs of skeletal myopathy",
"diffuse severe hypokinesia",
"severe cardiac involvement"
] | null | null | [
"increased levels of serum creatine kinase"
] | null |
duchenne:16887896 | A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. | [
"Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms. The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene. Molecular testing ... | [
"<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 (GKD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Glycerol kinase deficiency (GKD)",
"GKD",
"GKD",
"complex GKD"
] | [
"X-linked recessive disorder",
"contiguous deletion that leads",
"also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita",
"and DMD, the Duchenne muscular dystrophy",
"gene",
"mapping of a contiguous deletion potentially affecting the IL1RAPL1, NR0B1, GK, and DMD genes",... | null | null | null | [
"creatine kinase concentration within the reference interval",
"creatine kinase concentration within the reference interval"
] | null |
duchenne:16849873 | Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11. | [
"The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is the largest known human gene and characterized by the huge size of its introns. Intron 2 has been shown to include cryptic exons termed exons 2a and 2b, while intron 3 has been shown to include a cryptic exon designated exon 3a. In the presen... | [
"<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",
"dystrophinopathy"
] | [
"dystrophin gene",
"huge size of its introns",
"cryptic exons termed exons 2a and 2b",
"cryptic exon designated exon 3a",
"additional cryptic exons in introns 2 and 3",
"previously unknown 157-bp insertion was identified between exons 2 and 3 of a dystrophin mRNA",
"duplication of exons 8-11",
"sequen... | null | null | null | null | null |
duchenne:16820122 | Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis. | [
"Preimplantation genetic haplotyping (PGH) proof-of-principle was demonstrated by multiple displacement amplification (MDA) of single buccal cells from a female donor and genotyping using 12 polymorphic markers within the dystrophin gene; the known paternal genotype enabled identification of the paternal haplotype ... | [
"<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 haplotyping (PGH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Duchenne muscular dystrophy",
"cystic fibrosis"
] | [
"known paternal genotype",
"identification of the paternal haplotype in the MDA products",
"dropout",
"monogenic disease"
] | null | [
"PGH cycle",
"PGH cycle",
"carrier and a non-carrier embryo were transferred resulting in an on-going twin pregnancy",
"preimplantation genetic testing"
] | null | null | [
"non-carrier female, which was transferred with no resulting pregnancy"
] |
duchenne:16738009 | Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene. | [
"Mutations in exonic splicing enhancer sequences are known to cause splicing errors. Although exonic splicing enhancers have been identified as a stretch of purine-rich sequences, it has been difficult to precisely pinpoint the determinant nucleotides in these sequences. This article reports that a 4-bp deletion in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in exonic splicing enhancer sequences\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne's muscular dystrophy"
] | [
"Mutations in exonic splicing enhancer sequences",
"of purine-rich sequences",
"4-bp deletion in exon 38 of the dystrophin gene",
"complete exon 38 skipping",
"the third nucleotide of the deletion",
"a 4-bp deletion 11 bp upstream of the 3' end of exon 38 of the dystrophin gene (c. 5434-5437del TTCA), dis... | [
"splicing errors"
] | [
"exon skipping therapy"
] | null | [
"raised level of serum creatine kinase",
"truncated dystrophin protein"
] | null |
duchenne:16633967 | Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. | [
"Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"BMD",
"DMD",
"BMD",
"BMD"
] | [
"mutations of the X-linked dystrophin gene",
"new point mutation in the dystrophin gene",
"new point mutation in the dystrophin gene"
] | [
"prominent muscle cramps",
"only very slight muscle fiber alterations",
"very minor myopathic signs"
] | null | null | [
"serum Creatine Kinase (CK) levels had been considerably elevated for years"
] | [
"clinically asymptomatic at the age of 15"
] |
duchenne:16629452 | [Two cases of Duchenne muscular dystrophy complicated with dilated cardiomyopathy and cerebral infarction]. | [
"We report two cases of Duchenne muscular dystrophy (DMD) complicated with dilated cardiomyopathy (DCM), who were affected with cerebral infarction. Case 1 suddenly developed dysarthria and right facial weakness at age 21. Cranial CT study disclosed a low density area in the left basal ganglia and internal capsule.... | [
"<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 (DMD) complicated with dilated cardiomyopathy (DCM)\n <... | [
"Duchenne muscular dystrophy (DMD) complicated with dilated cardiomyopathy (DCM)",
"DCM"
] | null | [
"cerebral infarction",
"dysarthria",
"right facial weakness",
"low density area in the left basal ganglia and internal capsule",
"transient ischemic attack (TIA)",
"TIA",
"right hemiplegia",
"dysarthria",
"low density area in the corona radiate in left cerebral hemisphere",
"radiographic cardiomeg... | null | null | [
"elevated titer of thrombin-anti-thrombin III complex (TAT) and D-dimer"
] | [
"Despite the negative finding of the emboli in the left heart"
] |
duchenne:16627883 | Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease that is characterized by muscle dystrophin deficiency. We report that intravenous (IV) infusion of an antisense oligonucleotide created an in-frame dystrophin mRNA from an out-of-frame DMD mutation (via exon skipping) which led to muscle dystrophi... | [
"<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)",
"fatal muscle wasting disease",
"DMD",
"DMD"
] | [
"in-frame dystrophin mRNA from an out-of-frame DMD mutation (via exon skipping)",
"out-of-frame, exon 20 deletion of the dystrophin gene",
"Exon 19 skipping appeared in a portion of the dystrophin mRNA in peripheral lymphocytes",
"novel in-frame mRNA lacking both exons 19 and 20"
] | null | [
"intravenous (IV) infusion of an antisense oligonucleotide",
"a 0.5 mg/kg IV infusion of an antisense 31-mer phosphorothioate oligonucleotide against the splicing enhancer sequence of exon 19",
"antisense construct was administered at one-week intervals for 4 wk",
"oligonucleotide treatment",
"phosphorothio... | null | [
"muscle dystrophin deficiency",
"muscle dystrophin expression"
] | [
"No side effects attributable to infusion"
] |
duchenne:16608904 | PGD for dystrophin gene deletions using fluorescence in situ hybridization. | [
"Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21). In two-thirds of DMD/BMD cases, the mutation is a large deletion of one or several exons. We have established PGD for DMD/BMD using interphase fluorescence in situ hybridization (FISH) ana... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy (DMD and BMD)",
"DMD/BMD",
"DMD/BMD"
] | [
"mutations in the dystrophin gene (Xp21)",
"large deletion of one or several exons",
"deletions of specific exons in the dystrophin gene",
"deletion of exons 45-50 (DMD)",
"deletion of exons 45-48 (BMD)",
"known deletions of the dystrophin gene"
] | null | [
"PGD",
"PGD",
"pregnancy",
"PGD",
"PGD"
] | null | null | null |
duchenne:16604481 | Cloning and sequencing of junction fragment with exons 45-54 deletion of dystrophin gene. | [
"To study the mechanisms of dystrophin gene deletion, the junction fragment with exons 45-54 deletion were cloned and sequenced.",
"A Duchenne muscular dystrophy (DMD) patient with exons 45-54 deletion has been substantiated by PCR amplification of the exons. Then we used a PCR-based genome-walking method for loc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To study the mechanisms of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dystrophin gene deletion\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"dystrophin gene deletion",
"exons 45-54 deletion",
"introns 44 and 54",
"to a DNA sequence as close",
"to the breakpoints in introns 45 and 54",
"was located in LINE/L1 element of intron 44 and close to a matrix attachment region (MAR)",
"in the minor potential MAR with topoisomerase II cleavage sites ... | null | null | null | null | null |
duchenne:16597483 | Assessment of somatosensory evoked potentials during resuscitation of a 15-year-old boy with Duchenne muscular dystrophy. | [
"Patients with Duchenne muscular dystrophy (DMD) are likely to suffer from cardiac insufficiency. Subclinical cardiac insufficiency may decompensate intraoperatively. During spinal surgery, recording of somatosensory evoked potentials (SSEP) is the standard method of spinal cord monitoring. Assessment of SSEP has p... | [
"<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"
] | null | [
"cardiac insufficiency",
"Subclinical cardiac insufficiency",
"severe hypotension",
"circulatory collapse",
"circulatory collapse",
"fully recovered",
"Latencies of SSEP remained stable from all extremities",
"amplitudes significantly decreased",
"CPR",
"recovered completely",
"brain ischaemia",... | [
"spinal surgery",
"cardiopulmonary resuscitation (CPR)",
"spinal surgery",
"resuscitated",
"sufficient CPR"
] | null | null | null |
duchenne:16566880 | Coexisting muscular dystrophies and epilepsy in children. | [
"Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epileps... | [
"<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 Muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Muscular dystrophies",
"genetic muscle disorders",
"Fukuyama congenital muscular dystrophy",
"Duchenne muscular dystrophy",
"limb girdle muscular dystrophy",
"coexisting muscular dystrophies",
"epilepsy",
"Fukuyama congenital muscular dystrophy",
"muscular dystrophies",
"Duchenne/Becker dystrophy... | [
"linked to different chromosomes and loci",
"gene mutations",
"deletion of dystrophin gene"
] | [
"progressive muscle atrophy",
"weakness",
"partial and generalized epilepsy",
"congenital brain anomalies",
"cobblestone complex and other neuronal migration defects",
"generalized convulsive epilepsy",
"absence epilepsy",
"partial or generalized epilepsy"
] | null | null | [
"partial calpain deficiency",
"partial and complete deficiency of laminin alpha2 (merosin) chain",
"partial calpain deficiency"
] | [
"normal brain magnetic resonance imaging",
"normal brain magnetic resonance imaging"
] |
duchenne:16543161 | Becker's muscular dystrophy and orthotopic heart transplantation: perioperative considerations. | [
"Patients with Becker's and Duchenne's muscular dystrophy occasionally have myocardial involvement leading to end-stage heart failure. Heart transplantation is established as an effective therapy. Achieving successful outcomes in this challenging group requires special consideration during the perioperative period ... | [
"<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's\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Becker's",
"Duchenne's muscular dystrophy",
"Becker's muscular dystrophy"
] | null | [
"myocardial involvement",
"end-stage heart failure",
"minimize anesthesia complications"
] | [
"Heart transplantation",
"limit preoperative deconditioning",
"rapidly institute rehabilitation with appropriate precautions"
] | null | null | null |
duchenne:16541798 | [Four siblings with becker muscular dystrophy (BMD) manifesting severe mental retardation]. | [
"A 33-year-old man with BMD manifesting severe mental retardation is reported. This patient has mild pseudohypertrophy in his calf muscles and showed an elevation of creatine kinase (CK) level in the serum (2215 IU/L). He was diagnosed as autistic at the age of three. His intellectual level was estimated to be two ... | [
"<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 33-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"BMD",
"autistic",
"Becker muscular dystrophy"
] | null | [
"severe mental retardation",
"mild pseudohypertrophy in his calf muscles",
"severe mental retardation",
"severe mental retardation",
"scarce muscular weakness"
] | null | null | [
"elevation of creatine kinase (CK) level in the serum (2215 IU/L)",
"elevated CK level in the serum (1735-3641 IU/L)"
] | [
"muscle strength remains within the normal range",
"lack apparent muscular weakness"
] |
duchenne:16528518 | Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12-19 of the dystrophin gene on Xp21.2, with a karyotype of 46, XY. Furthermor... | [
"<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",
"DMD",
"DMD"
] | [
"X-linked recessive disorder",
"deletion of exons 12-19 of the dystrophin gene on Xp21.2",
"karyotype of 46, XY",
"novel mutation in the androgen-receptor gene on Xq11.2-q12",
"Co-occurrence of mutations of these two genes"
] | [
"male pseudohermaphroditism"
] | null | [
"Vietnamese"
] | null | null |
duchenne:16516424 | Immobility reduces muscle fiber necrosis in dystrophin deficient muscular dystrophy. | [
"Duchenne/Becker muscular dystrophy is a progressive muscle disease, which is caused by the abnormality of dystrophin. Spina bifida is characterized by paralysis of the feet, with most of the upper extremities not being affected. We report here on the first case of Becker muscular dystrophy coinciding with spina bi... | [
"<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/Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Duchenne/Becker muscular dystrophy",
"progressive muscle disease",
"Spina bifida",
"Becker muscular dystrophy",
"spina bifida",
"dystrophin deficiency disease"
] | [
"abnormality of dystrophin"
] | [
"paralysis of the feet, with most of the upper extremities not being affected",
"dystrophic changes in upper extremities, but clearly less in lower extremities"
] | [
"restriction of excessive exercise"
] | null | null | null |
duchenne:16508262 | Noncompaction in Duchenne muscular dystrophy: frustrated attempt to create a compensatory left ventricle? | [
"The histological workup of the myocardium of a patient with Duchenne muscular dystrophy and left ventricular hypertrabeculation/noncompaction (LVHT) revealed an extremely thin left ventricular wall and a noncompacted layer double in size compared to the compacted layer. Within the compacted layer islets of fibrous... | [
"<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 histological workup of the myocardium\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Duchenne muscular dystrophy",
"LVHT"
] | null | [
"left ventricular hypertrabeculation/noncompaction (LVHT)",
"extremely thin left ventricular wall",
"noncompacted layer double in size compared to the compacted layer",
"noncompaction",
"failing compacted but dystrophic myocardium"
] | null | null | null | null |
duchenne:16430414 | The postoperative cardiovascular arrest of a 5-year-old male: an initial presentation of Duchenne's muscular dystrophy. | [
"Anesthesia may be administered to patients with Duchenne's muscular dystrophy, but cases are reported in which apparently healthy children suffer hyperkalemic cardiac arrest. We present the case of a 5-year-old boy whose muscular dystrophy was discovered following a fatal, perioperative cardiac arrest in the posta... | [
"<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 Anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Duchenne's muscular dystrophy",
"muscular dystrophy"
] | null | [
"hyperkalemic cardiac arrest",
"fatal, perioperative cardiac arrest"
] | [
"Anesthesia",
"postanesthesia care unit"
] | null | null | null |
duchenne:16396830 | Clinicopathologic conference: Barth Syndrome. | [
"A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC)."
] | [
"<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 Barth Syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Barth Syndrome"
] | null | null | null | null | [
"elevation of 3-methylglutaconic acid (3MGC)"
] | null |
duchenne:16368206 | Tracheo-arterial fistula in tracheostomy patients with Duchenne muscular dystrophy. | [
"A tracheo-arterial fistula is a serious and life threatening potential complication of a tracheostomy. Since 1984, we experienced nine fatal cases of tracheo-arterial fistula among 60 Duchenne muscular dystrophy (DMD) patients who underwent a tracheostomy. Representative cases included a patient with lordosis (Cas... | [
"<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 tracheo-arterial fistula\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"tracheo-arterial fistula",
"tracheo-arterial fistula",
"lordosis",
"fistula was located in the brachiocephalic artery close to the trachea",
"severe scoliosis",
"the aorta to compress the trachea",
"fistula between the trachea and brachiocephalic artery",
"anatomical locations between the trachea and... | [
"tracheostomy",
"tracheostomy",
"tracheostomy procedure",
"tracheal stoma"
] | null | null | null |
duchenne:16362975 | Noninvasive ventilation during gastrostomy tube placement in patients with severe duchenne muscular dystrophy: case reports and review of the literature. | [
"Individuals with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to their severely impaired pulmonary function, these individuals are at risk of severe complications when they are sedated or undergo anesthesia for the procedure. We p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Individuals with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Duchenne muscular dystrophy",
"severe muscular dystrophy",
"severe muscular dystrophy"
] | null | [
"progressive dysphagia",
"malnutrition",
"severely impaired pulmonary function",
"severe complications",
"malnutrition"
] | [
"gastrostomy tube feeding",
"sedated",
"undergo anesthesia",
"noninvasive positive pressure ventilation to provide respiratory support during gastrostomy tube placement",
"provide respiratory support",
"percutaneous endoscopic gastrostomy tube placement",
"gastrostomy placement"
] | null | null | null |
duchenne:16353443 | Cardiomyopathy in Becker muscular dystrophy--does regional fibrosis mimic infarction? | [
"We present a case of a 39-year-old man with Becker muscular dystrophy and severe congestive cardiac failure. Cardiac magnetic resonance imaging revealed subendocardial late gadolinium enhancement, similar to that seen in myocardial infarction. He had no risk factors for atherosclerotic coronary artery disease and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a 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 39-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Becker muscular dystrophy",
"cardiomyopathy",
"Becker muscular dystrophy"
] | null | [
"severe congestive cardiac failure",
"subendocardial late gadolinium enhancement, similar to that seen in myocardial infarction",
"regional subendocardial myocardial fibrosis",
"previous infarction"
] | null | null | null | [
"no risk factors for atherosclerotic coronary artery disease",
"coronary angiography was normal"
] |
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