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:25838855 | Challenges in the management of the child with Duchenne muscular dystrophy in a resource poor setting:a case report. | [
"Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens. Paediatricians caring for the child with Duchenne Muscular Dystrophy in resource poor settings face a lot challenges. These chal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"progressive genetic disease",
"Duchenne Muscular Dystrophy"
] | null | [
"die",
"poverty",
"emotional burn-out of parents"
] | [
"wheelchair bound",
"inadequate multidisciplinary care"
] | null | null | [
"no cure"
] |
duchenne:25804023 | A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family. | [
"In this report we present the analysis of a sporadic case of DMD and his family. In the present case, a deletion of exons 18-47 is presented which predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene. This mutation was not previously reported in the Leide... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this report we present the analysis of a sporadic 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 DMD\n <span style=\"font-size: 0.8em; font-we... | [
"DMD",
"DMD"
] | [
"deletion of exons 18-47",
"predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene",
"new pathogenic variant presented as de novo mutation",
"germline mosaicism",
"de novo mutations"
] | null | null | null | null | null |
duchenne:24322432 | Alternatives to mouthpiece noninvasive ventilatory support to permit dental care. | [
"Patients who are dependent on continuous noninvasive intermittent positive pressure ventilation for ventilatory support via angled mouthpiece interfaces during daytime hours often need dental interventions that are prevented by the presence of the mouthpiece. To permit dental interventions, however, the noninvasiv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients who are dependent on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n continuous noninvasive intermittent positive pressure ventilation for ventilato... | null | null | null | [
"continuous noninvasive intermittent positive pressure ventilation for ventilatory support via angled mouthpiece interfaces",
"daytime hours",
"dental interventions",
"dental interventions",
"noninvasive intermittent positive pressure ventilation",
"nasal interface",
"mouthpiece continuous noninvasive i... | null | null | [
"prevented by the presence of the mouthpiece",
"both sedation and supplemental oxygen",
"fail to cover the nasal interface exhalation portals"
] |
duchenne:24318042 | De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy. | [
"We report an unusual case of a patient with two combined X-linked diseases, severe hemophilia A (HA) and Duchenne muscular dystrophy (DMD), of which only HA was hereditary. There was no family history of muscular dystrophy. Genetic analysis revealed that HA was caused by the hereditary coagulation factor VIII (F8)... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an unusual case of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n two combined X-linked diseases\n <span style=\"font-size: 0.8e... | [
"two combined X-linked diseases",
"severe hemophilia A (HA) and Duchenne muscular dystrophy (DMD)",
"HA",
"HA",
"DMD",
"two severe X-linked diseases",
"HA",
"hereditary hemophilia"
] | [
"was hereditary",
"hereditary coagulation factor VIII (F8) intron 22 inversion (distal/type I inversion)",
"de novo deletion in the dystrophin gene",
"was hereditary",
"two X-linked abnormalities, one hereditary and one de novo",
"distinct X-linked diseases"
] | null | null | null | null | [
"no family history of muscular dystrophy"
] |
duchenne:24305455 | Administration of glucocorticoids in boys with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease affecting boys. Advances in their care can delay the progression of DMD-related disability and prolong survival. The administration of glucocorticoids is among these advances. Glucocorticoid therapy, however, is associated with a myriad of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"neuromuscular disease",
"DMD"
] | null | [
"potential adverse effects"
] | [
"administration of glucocorticoids",
"Glucocorticoid therapy",
"glucocorticoid therapy",
"glucocorticoids"
] | null | null | null |
duchenne:24305454 | The new frontier of genetically targeted therapies for muscle disease. | [
"This article presents the case of a 5-year-old boy with Duchenne muscular dystrophy who is eligible to enroll in a clinical trial of gene therapy for this disorder. His parents are grappling with the decision about whether to enroll him. Among the issues under consideration are the potential risks and benefits to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This article presents the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Duchenne muscular dystrophy",
"disorder"
] | null | null | [
"gene therapy"
] | null | null | [
"without benefit to the child"
] |
duchenne:24286912 | Orthodontic treatment of a patient with Duchenne muscular dystrophy and macroglossia: how informed consent was critical to success. | [
"This article describes the complex orthodontic treatment of a 22-year-old patient with Duchenne muscular dystrophy and macroglossia. His orthodontic treatment hinged on providing proper informed consent and management of the malocclusion with glossectomy, extractions, fixed appliances, and elastics. Challenges to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This article describes 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 complex orthodontic treatment\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne muscular dystrophy"
] | null | [
"macroglossia"
] | [
"complex orthodontic treatment",
"orthodontic treatment",
"consent",
"management of the malocclusion",
"glossectomy",
"extractions, fixed appliances, and elastics",
"traditional treatment"
] | null | null | null |
duchenne:24191530 | Use of ultrasound-guided intercostal nerve block as a sole anaesthetic technique in a high-risk patient with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy is a progressive neuromuscular disease. Mortality is typically related to combined respiratory failure and dilated cardiomyopathy. Surgery under general anesthesia or deep sedation presents increased risks for pulmonary complications or ventilator dependency postoperatively. We describe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"progressive neuromuscular disease",
"Duchenne muscular dystrophy"
] | null | [
"Mortality",
"combined respiratory failure",
"dilated cardiomyopathy",
"pulmonary complications",
"ventilator dependency",
"severe respiratory compromise"
] | [
"Surgery under general anesthesia or deep sedation",
"surgery on the chest wall"
] | null | null | null |
duchenne:24070816 | 'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia. | [
"Duchenne muscular dystrophy (DMD) is caused by mutations in Dystrophin and affects 1 in 3600-6000 males. It is characterized by progressive weakness leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis. We describe the unusual phenotype of 3 patients with skeletal dysplasias in 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)",
"skeletal dysplasias",
"DMD",
"osteogenesis imperfecta",
"pseudoachondroplasia",
"DMD",
"DMD",
"secondary inherited condition"
] | [
"mutations in Dystrophin",
"point mutations in COL1A1",
"1 bp frameshift deletion in the Dystrophin gene",
"mutation in the COMP gene",
"deletion of exons 48-50 in Dystrophin"
] | [
"progressive weakness",
"loss of ambulation",
"respiratory insufficiency",
"cardiomyopathy",
"scoliosis",
"concomitant presence of 2 conditions affecting the musculoskeletal system"
] | null | null | null | null |
duchenne:24065205 | Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy. | [
"Duchenne type muscular dystrophy (DMD) is an allelic X-linked recessive disorder caused by mutations in the gene encoding dystrophin. Genotype analysis has shown that deletion mutations account for approximately 65% of all cases, and 5-10% are duplications, while the remaining 30% of affected individuals may have ... | [
"<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 type muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne type muscular dystrophy (DMD)",
"DMD",
"severe DMD"
] | [
"allelic X-linked recessive disorder",
"mutations in the gene encoding dystrophin",
"deletion mutations",
"duplications",
"smaller mutations",
"point mutations, small deletions or small insertions",
"novel duplication (c.8284dupA) in exon 56 of the dystrophin gene",
"was predicted to generate a frames... | [
"typical clinical features of DMD",
"tendency to fall",
"difficulty in rising from the floor and in walking on his toes",
"waddling gait",
"proximal muscle weakness",
"calf hypertrophy",
"deep tendon hyporflexia",
"positive Gower's sign"
] | null | null | null | [
"could no longer climb stairs"
] |
duchenne:24014122 | Prenatal diagnosis of BMD in Morocco: evolution and limits. | [
"The muscular dystrophy is a group of inherited disorders characterized in the most of cases by progressive muscle weakness. The best known are X-linked disorder Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). BMD is a milder form of the disease with a later age of onset and a slower clinical... | [
"<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 muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"muscular dystrophy",
"Becker muscular dystrophy (BMD)",
"BMD"
] | [
"inherited disorders",
"X-linked disorder Duchenne muscular dystrophy (DMD)",
"The DMD gene, located on Xp21, is the largest human gene in the human genome (2.3 Mb)",
"DMD gene consists of 79 exons and codes for dystrophin protein",
"deletion of exons 45 to 49",
"heterozygosis deletion"
] | [
"progressive muscle weakness",
"symptoms of the disease",
"walking difficulties",
"limited hands force",
"myopathic changes, consisting of polyphasic potentials",
"dystrophic aspect"
] | null | null | [
"elevated serum levels of creatine kinase (7.60 U/L)"
] | [
"with no known family history of significant muscle disease"
] |
duchenne:23989969 | Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. | [
"Myoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb-girdle muscular dystrophy. We describe an unusual presentation of alpha-sarcoglycanopathy with myoglobinuria at the onset of the disease. The boy presented an epi... | [
"<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; ... | [
"metabolic myopathies",
"Duchenne",
"Becker dystrophies",
"limb-girdle muscular dystrophy",
"alpha-sarcoglycanopathy",
"post-infectious nephritis",
"sarcoglycanopathies",
"alpha-sarcoglycanopathy",
"primary sarcoglycanopathy"
] | [
"homozygous mutation in the alpha-sarcoglycan gene"
] | [
"episode of dark urine",
"fever",
"sore throat"
] | null | null | [
"Myoglobinuria",
"myoglobinuria",
"presence of blood by a urine dipstick",
"myoglobinuria",
"absent expression of α-sarcoglycan",
"Myoglobinuria",
"myoglobinuria"
] | [
"antibiotics"
] |
duchenne:23893308 | Why short stature is beneficial in Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is caused by a genetic defect resulting in absent dystrophin, yet children are able to walk when small and young but lose this ability as they grow. The mdx mouse has absent dystrophin yet does not exhibit significant disability.",
"Allometric modeling of linearly increasing loa... | [
"<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)",
"mdx",
"DMD",
"small golden retriever muscular dystrophy (GRMD) dogs",
"large GRMD",
"DMD"
] | [
"genetic defect resulting in absent dystrophin"
] | [
"linearly increasing load per muscle fiber",
"stress on the sarcolemma",
"exponential decline",
"loss of muscle fibers",
"of disease and disability"
] | [
"specific growth inhibitors in combination with standard of care treatments"
] | null | [
"absent dystrophin",
"combined growth hormone and dystrophin deficiency"
] | [
"able to walk when small and young",
"not exhibit significant disability",
"benign course of disease"
] |
duchenne:23821427 | Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val). | [
"Ornithine transcarbamylase (OTC) deficiency, an X-linked, semidominant disorder, is the most common inherited de-fect in ureagenesis, resulting in hyperammonaemia type II. The OTC gene, localised on chromosome X, has been mapp-ed to band Xp21.1, proximate to the Duchenne muscular dystrophy (DMD) gene. More than 35... | [
"<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 Ornithine transcarbamylase (OTC) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | null | [
"X-linked",
"semidominant disorder",
"inherited",
"OTC gene",
"localised on chromosome X",
"band Xp21.1, proximate to the Duchenne muscular dystrophy (DMD) gene",
"missense, nonsense, splice-site changes, small de-letions or insertions and gross deletions",
"mutations in consensus splicing sites",
"... | null | null | null | [
"Ornithine transcarbamylase (OTC) deficiency",
"hyperammonaemia type II",
"proven OTC deficiency"
] | null |
duchenne:23740413 | Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy. | [
"We describe a 10-year-old Chinese boy with features of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy (DMD).",
"Case report.",
"Weakness and mild sensory loss in the distal extremities, pes cavus, and nerve conduction findings suggested demyelinating neuropathy, while moderate calf pseudohyp... | [
"<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 10-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy (DMD)",
"demyelinating neuropathy",
"DMD",
"CMT type 1A comorbid with DMD",
"DMD"
] | [
"large deletion spanning exon 50 in the gene coding for dystrophin and duplications in the gene coding for peripheral myelin protein 22.",
"large DNA fragment deletion"
] | [
"features of Charcot-Marie-Tooth disease (CMT)",
"Weakness and mild sensory loss in the distal extremities",
"pes cavus",
"moderate calf pseudohypertrophy",
"proximal muscle weakness",
"a myopathic pattern",
"rapid deterioration of motor function"
] | null | [
"Chinese"
] | [
"deficiency of dystrophin immunohistochemical staining"
] | null |
duchenne:23731976 | Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister. | [
"Because it is due to a mutation on the X-chromosome, Duchenne muscular dystrophy rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. We report here the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Because it is due to a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutation on the X-chromosome\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"mutation on the X-chromosome",
"unequal lyonisation of the X-chromosome containing the normal dystrophin gene"
] | null | [
"transplanted with myoblasts received from her asymptomatic monozygotic twin sister 20 years ago",
"cell therapy",
"myoblast transplantation"
] | null | null | null |
duchenne:23729708 | Analysis using histograms of muscle CT images in patients with Duchenne muscular dystrophy. | [
"We showed that the shape of the thigh CT value histogram, which was reflecting muscle and fat, changed with the disease progression in a patient with Duchenne muscular dystrophy, and this shape of the histogram will employ a new analytical method. CT images of the middle part of the thigh were acquired in a patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We showed that the shape of the thigh CT value histogram, which was reflecting muscle and fat, changed with the disease progression in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-h... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"apparently corresponding to subcutaneous fat, bone and bone marrow",
"motor disability",
"in the muscle CT value range in",
"muscle-to-fat ratio in muscle",
"muscle to the fat CT value"
] | null | null | null | null |
duchenne:23695957 | Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. | [
"Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis.",
"We analyzed 17 individuals from 2 u... | [
"<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 Dystrophinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Dystrophinopathies",
"neuromuscular diseases",
"DMD"
] | [
"X-linked recessive",
"mutations in the dystrophin gene",
"mutations within the dystrophin gene",
"at-risk haplotype",
"2 single-exon out-of-frame deletions",
"disease-causing mutation"
] | null | [
"precise genetic counseling"
] | [
"Argentine"
] | null | [
"fetus were excluded from being carriers"
] |
duchenne:23685662 | Cardiac resynchronization therapy in becker muscular dystrophy. | [
"A 44-year-old male patient with known Becker muscular dystrophy and concomitant non-ischemic dilated cardiomyopathy presented to our department because of worsening heart failure and presyncope. Upon admission, the patient was in New York Heart Association functional class III despite optimal pharmacological treat... | [
"<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 44-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy"
] | null | [
"non-ischemic dilated cardiomyopathy",
"worsening heart failure",
"presyncope",
"New York Heart Association functional class III",
"sinus rhythm with left bundle branch block and a wide QRS complex",
"Non-sustained ventricular tachycardia",
"dilatation and concomitant hypertrabeculation of the left vent... | [
"biventricular cardioverter-defibrillator (CRT-D) was implanted",
"with the LV lead in a lateral vein and the right ventricular defibrillating lead in the apical part of the interventricular septum",
"Echocardiography-guided device programming"
] | null | null | [
"despite optimal pharmacological treatment"
] |
duchenne:23680947 | Skin biopsy: a new tool to diagnose sarcoglycanopathy. | [
"Muscular dystrophies are progressive, genetic disorders of muscle degeneration. The current gold standard for diagnosis is muscle biopsy or genetic studies. Muscle biopsy is an invasive procedure and genetic testing facilities are available only in a few centers. Thus, a diagnostic test that is easily available, s... | [
"<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",
"progressive, genetic disorders of muscle degeneration",
"sarcoglycanopathy"
] | null | null | null | null | null | null |
duchenne:23676236 | Ultra-widefield imaging of Duchenne muscular dystrophy-associated proliferative retinal vasculopathy improved with panretinal laser photocoagulation alone. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder whose ophthalmic associations most commonly consist of pigmentary fundus changes and scotopic electroretinogram abnormalities. A 23-year-old man with advanced DMD and associated cardiopulmonary compromise complaining of floaters presented ... | [
"<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)",
"advanced DMD",
"vasculopathy",
"DMD"
] | [
"X-linked recessive genetic disorder"
] | [
"pigmentary fundus changes",
"scotopic electroretinogram abnormalities",
"associated cardiopulmonary compromise",
"floaters",
"striking retinal vasculopathy",
"vitreous hemorrhage",
"neovascularization",
"capillary drop-out",
"prominent saccular venular aneurysms diffusely throughout the fundus of b... | [
"panretinal phocoagulation",
"prompt treatment"
] | null | null | null |
duchenne:23649991 | Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene. | [
"Pathogenic complex genomic rearrangements are being increasingly characterized at the nucleotide level, providing unprecedented opportunities to evaluate the complexities of mutational mechanisms. Here, we report the molecular characterization of a complex duplication-triplication rearrangement involving exons 45-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pathogenic complex genomic rearrangements\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | null | [
"Pathogenic complex genomic rearrangements",
"complex duplication-triplication rearrangement involving exons 45-60 of the DMD gene",
"Inverted repeats",
"duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) events",
"a 690-kb region comprising DMD exons from 45 to 60 was duplicated in tandem, and... | null | null | null | null | null |
duchenne:23603544 | [Two cases of Duchenne muscular dystrophy over 40 years after onset]. | [
"We report two 45 year old men with Duchenne muscular dystrophy. Case 1 showed a deleted exon 50 of the dystrophin gene by MLPA analysis, and Case 2 showed deleted exons 46-52. Both patients presented with severe weakness of the skeletal muscles and respiratory dysfunction, while cardiac involvement was mild and co... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 45 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"deleted exon 50 of the dystrophin gene",
"deleted exons 46-52"
] | [
"severe weakness of the skeletal muscles",
"respiratory dysfunction",
"cardiac involvement",
"maintenance of quality of life",
"cardiac damage"
] | [
"shop at a mall",
"participate in activities",
"attend hobbies",
"bedridden",
"artificial respiration through tracheotomy",
"respiratory care",
"cardiac protective therapy"
] | null | null | [
"was mild",
"cognitive function was almost normal"
] |
duchenne:23574351 | A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. | [
"The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS) cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, c... | [
"<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 human X chromosome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"X-linked ichthyosis",
"Duchenne or Becker muscular dystrophies (DMD or BMD)",
"fragile X syndrome",
"asymptomatic",
"fragile X syndrome"
] | [
"human X chromosome",
"genomic instability",
"deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS)",
"rearrangements in the Xp21.2 region",
"Xq27.3 unstable region, containing the (CGG)n repeat expansion in the FMR1 gene",
"X-linked disorders",
"severe genetic rearrangements on bo... | [
"severe ichthyosis",
"ichthyosis"
] | null | null | null | null |
duchenne:23503897 | Intraoperative airway obstruction in a Duchenne muscular dystrophy patient. | [
"To report a complication of airway obstruction during spinal deformity correction surgery in Duchenne muscular dystrophy (DMD) patient, due to lordoscoliosis, airway malacia, and prone surgical positioning, which was rectified by changing the position of the patient and surgery was successfully completed.",
"A 1... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a complication 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 airway obstruction\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"airway obstruction",
"lordoscoliosis",
"airway malacia",
"kyphotic angle was -19°",
"peak inspiratory pressure (PIP) suddenly increased from 20-21 to 38-41 cmH2O",
"wheezing sounds were heard on auscultation of both lungs",
"blood pressure began to fall",
"airway problem",
"airway obstruction",
"... | [
"spinal deformity correction surgery",
"prone surgical positioning",
"surgery",
"surgical treatment of thoracolumbar scoliosis",
"surgery",
"surgical position of the patient was changed from prone to semi-lateral",
"surgical correction",
"completed with a posterior-only pedicle screw by the free-hand ... | null | [
"PIP stabilized to within normal limits (20-23 cmH2O)"
] | null |
duchenne:23444294 | First successful pregnancy in Switzerland after prospective sex determination of the embryo through the separation of X-chromosome bearing spermatozoa. | [
"The feasibility and the potential advantages of separating X-chromosome bearing spermatozoa for the prevention of a severe X-chromosome linked disorder with the use of intracytoplasmic sperm injection are presented.",
"A carrier of muscular dystrophy type Becker was treated with intracytoplasmic sperm injection,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The feasibility and the potential advantages 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 separating X-chromosome bearing spermatozoa\n <span style=... | [
"muscular dystrophy type Becker",
"intrauterine pregnancy"
] | [
"severe X-chromosome linked disorder",
"female sex of the embryo",
"absence of the SRY gene of the Y-chromosome"
] | [
"normal pregnancy",
"significant disease in the offspring"
] | [
"intracytoplasmic sperm injection",
"intracytoplasmic sperm injection",
"transfer of one single blastocyst",
"of surplus embryos needed for preimplantation genetic diagnosis"
] | null | null | null |
duchenne:23382079 | Detrusor overactivity in Becker muscular dystrophy. | [
"A 20-year-old man with normal motor milestones as an infant but subsequent progressive difficulty in walking in childhood, was genetically confirmed to have Becker muscular dystrophy (BMD) at age 13. He was independent in ambulation and activities of daily living. He was referred to the Department of Uro-neurology... | [
"<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 20-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy (BMD)"
] | null | [
"progressive difficulty in walking",
"and activities of daily living",
"urinary urgency",
"incontinence",
"urinary urgency daily",
"incontinence"
] | [
"visit the toilet"
] | null | null | [
"normal motor milestones",
"independent in ambulation",
"did not report difficulties initiating voiding, stress incontinence, pain, or hematuria",
"no history of urinary tract infections"
] |
duchenne:23345479 | NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. | [
"We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ gene. This variant ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We reported 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 two male siblings affected with infantile dilated cardiomyopathy (DCM)\n <span s... | [
"complex disorders",
"DCM",
"Barth syndrome",
"severe metabolic phenotype",
"DCM"
] | [
"hemizygous variant c.718G>C (p.Gly240Arg) in the TAZ gene",
"X linked infantile DCM",
"NGS",
"TAZ mutation",
"TAZ mutation"
] | null | null | null | null | [
"Extensive evaluation failed to identify the underlying cause for the DCM"
] |
duchenne:23279916 | Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy. | [
"A 40 year-old woman presented to hospital with 12h of progressive shortness of breath. She was 11 days postpartum, having delivered a full-term male infant. She was discharged on antibiotics for presumed pneumonia, but represented two days later with NYHA class IV symptoms and in acute decompensated heart failure ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 40 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"pneumonia",
"peripartum cardiomyopathy (PPCM)",
"DMD",
"PPCM",
"cardiomyopathy"
] | null | [
"progressive shortness of breath",
"NYHA class IV symptoms",
"acute decompensated heart failure",
"left ventricular ejection fraction (LVEF) of 20%"
] | [
"11 days postpartum",
"having delivered a full-term male infant",
"discharged on antibiotics",
"angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics"
] | null | null | [
"normalisation of her cardiac function within six months"
] |
duchenne:23169483 | Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy. | [
"Camptocormia, or bent spine syndrome, is an abnormal posture consisting of forward flexion of the spine that disappears when a patient is supine. It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.",
"We describe a woman who... | [
"<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 Camptocormia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Camptocormia",
"myopathic disorders",
"inflammatory and inherited myopathies",
"DMD",
"carrier",
"manifesting carrier state"
] | [
"heterozygous carrier of a mutation"
] | [
"bent spine syndrome",
"abnormal posture consisting of forward flexion of the spine",
"disappears",
"affect paraspinal muscles",
"camptocormia",
"mild nonspecific changes",
"camptocormia",
"unexplained camptocormia"
] | null | null | null | [
"absence of any alternate explanation"
] |
duchenne:23114028 | Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. | [
"We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with \"cryptogenic\" hypertransaminasemia."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case with the association 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 well self-compensated hereditary fructose intolerance\n <span sty... | null | null | [
"well self-compensated hereditary fructose intolerance"
] | null | null | [
"cryptogenic\" hypertransaminasemia"
] | [
"still poorly symptomatic Duchenne type muscular dystrophy"
] |
duchenne:23110537 | Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. | [
"Female carriers of Duchenne muscular dystrophy (DMD) are usually asymptomatic. However, 2.5-7.8% of them may present muscle symptoms and cardiomyopathy, attributed to a reduced production of dystrophin, probably because of skewed patterns of X-chromosome inactivation (XCI). To evaluate the role of XCI in symptomat... | [
"<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 Female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD-manifesting",
"DMD"
] | [
"skewed patterns of X-chromosome inactivation (XCI)",
"XCI",
"XCI pattern determined in the lymphocytes by the androgen receptor methylation-based assay",
"preferential inactivation of the X-chromosome carrying the normal allele",
"random XCI pattern",
"non-random patterns of X inactivation"
] | [
"muscle symptoms",
"cardiomyopathy",
"symptomatic (at muscle or heart level",
"muscle with heart manifesting carriers",
"of skewing"
] | null | null | [
"reduced production of dystrophin"
] | [
"asymptomatic",
"asymptomatic",
"non-manifesting",
"non-manifesting carriers"
] |
duchenne:23030232 | Automatic single-trial classification of prefrontal hemodynamic activity in an individual with Duchenne muscular dystrophy. | [
"Brain-computer interfaces (BCIs) allow users to control external devices via brain activity alone, circumventing the somatic nervous system and the need for overt movement. Essential to BCI development is the ability to accurately detect and classify patterns of activation associated with different mental tasks. H... | [
"<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 Brain-computer interfaces (BCIs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | null | [
"Brain-computer interfaces (BCIs",
"control external devices",
"brain activity alone"
] | null | null | [
"circumventing the somatic nervous system and the need for overt movement"
] |
duchenne:22980762 | MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. | [
"The purpose of this study was to evaluate skeletal muscle composition of lower extremity muscles in a manifesting female carrier of Duchenne muscular dystrophy (MFC(DMD)) using magnetic resonance imaging (MRI) and spectroscopy (MRS). MRI/MRS was performed on the lower extremities and heart of a MFC(DMD) (47 years,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The purpose of this study was to evaluate \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 muscle composition of lower extremity muscles\n <span s... | [
"Duchenne muscular dystrophy (MFC(DMD))",
"MFC(DMD)",
"MFC(DMD)"
] | null | [
"skeletal muscle composition of lower extremity muscles",
"Heterogeneity and asymmetry among muscles in the MFC(DMD)",
"in lipid fraction and mean transverse relaxation time (T(2)) of lower extremity muscles",
"some muscles presenting as unaffected (e.g., rectus femoris) and others showing substantial deterio... | null | null | [
"increase in lipid fraction and T(2)"
] | null |
duchenne:22989906 | [Complete atrioventricular block in Duchenne muscular dystrophy]. | [
"We report a case of complete atrioventricular (AV) block in a 40-year-old patient with Duchenne muscular dystrophy (DMD). While he was bed-ridden and required mechanical ventilation, his cardiac involvement was mild. He had the deletion of exon 45-52 in the dystrophin gene. He underwent transient complete AV block... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n complete atrioventricular (AV) block\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"AV block",
"AV block"
] | [
"deletion of exon 45-52 in the dystrophin gene"
] | [
"complete atrioventricular (AV) block",
"cardiac involvement was mild",
"transient complete AV block",
"recurrence of complete AV block",
"mild prolonged AH and HV interval"
] | [
"bed-ridden",
"required mechanical ventilation",
"pacemaker implantation"
] | null | null | null |
duchenne:22985905 | Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy. | [
"The identification of two independent mutations is rarely described between affected members of the same family with Duchenne Muscular Dystrophy. This study reports the presence of two distinct intragenic dystrophin deletions in a Turkish family. Exon 54 deletion was identified originally in the proband, whereas h... | [
"<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 identification of two independent mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | null | [
"two distinct intragenic dystrophin deletions",
"Exon 54 deletion was identified originally in the proband",
"both mutations of the same gene"
] | null | null | [
"Turkish"
] | null | null |
duchenne:22959238 | Classic manifestations of Duchenne dystrophy in a young female patient: a case report. | [
"Duchenne and Becker muscular dystrophies (DMD/DMB) are neuromuscular diseases linked to chromosome X and affect mainly male individuals. Duchenne muscular dystrophy is the most severe form of the disease, leading to a decreased patient survival compared with individuals with Becker type and female carriers of the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne and Becker muscular dystrophies (DMD/DMB)\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne and Becker muscular dystrophies (DMD/DMB)",
"neuromuscular diseases",
"Duchenne muscular dystrophy",
"Becker type"
] | [
"linked to chromosome X",
"carriers of the mutated gene"
] | null | null | null | null | null |
duchenne:22939275 | Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. | [
"Becker muscular dystrophy features progressive proximal weakness, wasting and often focal hypertrophy. We present a patient with pain and cramps from adolescence. Widespread muscle hypertrophy, preserved muscle strength and a 10-20-fold raised CPK were noted. Muscle biopsy was dystrophic, and Western blot showed 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 muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Becker muscular dystrophy",
"mild Becker muscular dystrophy"
] | [
"non-sense mutation in exon 2 of the dystrophin gene",
"translation re-initiation downstream from the mutation site"
] | [
"progressive proximal weakness",
"wasting",
"focal hypertrophy",
"pain and cramps",
"Widespread muscle hypertrophy",
"preserved muscle strength",
"widespread muscle hypertrophy"
] | null | null | [
"a 10-20-fold raised CPK",
"95% reduction of dystrophin levels"
] | [
"predicted to result in a Duchenne"
] |
duchenne:22920089 | Fat Embolism Syndrome following minor trauma in Duchenne muscular dystrophy. | [
"We describe five patients with Duchenne muscular dystrophy who presented with acute neurologic and respiratory symptoms following minor trauma. Four of the five deteriorated rapidly and died within 36 h after falling. X-rays for fractures were negative. Four of the five patients were taking corticosteroids daily. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe five patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Duchenne muscular dystrophy",
"Fat Embolism Syndrome",
"Fat Embolism Syndrome",
"Duchenne muscular dystrophy",
"Fat Embolism Syndrome"
] | null | [
"acute neurologic and respiratory symptoms",
"minor trauma",
"deteriorated rapidly",
"died",
"minor trauma"
] | [
"taking corticosteroids daily",
"aggressive resuscitation",
"seatbelts"
] | null | null | [
"X-rays for fractures were negative",
"without fractures"
] |
duchenne:22908833 | Angioedema in progressive muscular dystrophy: a case report. | [
"Systemic allergic reactions, which include angioedema, are very common in clinical practice. There is great diversity in the etiological factors known to trigger angioedema, and in the pathogenetic mechanisms defining this condition. Beside the broad spectrum of immuno-allergic reactions involved in the angioedemi... | [
"<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 Systemic allergic reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"angioedema",
"non-immune",
"rare neurological diseases",
"myopathies",
"muscular dystrophies",
"progressive muscular dystrophies (PMD)",
"Duchenne muscular dystrophy (DMD)",
"myopathy",
"facioscapulohumeral form of PMD",
"PMD of facioscapulohumeral type",
"primary neurological disorder",
"of ... | [
"hereditary diseases",
"different types of inheritance--X-chromosome recessive, X-chromosome dominant, autosomal dominant"
] | [
"Systemic allergic reactions",
"angioedema",
"immuno-allergic reactions",
"angioedemic pathogenesis",
"serological overlap\"",
"systemic allergic reactions",
"angioedema",
"urticaria",
"angioedema with urticaria",
"massive angioedema on the face, back and chest",
"itchy urticarial rash",
"alle... | null | [
"Plovdiv"
] | [
"cellular immune response",
"specific indices of humoral immunity",
"cellular immunity abnormalities",
"abnormalities in some components of humoral immunity"
] | [
"medical history could not reveal any of the most common etiologic factors such as drugs, food, insects and other allergens that may be associated with the systemic allergic reactions"
] |
duchenne:22875506 | [Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis]. | [
"To investigate a patient featuring a complex neuromuscular disease phenotype.",
"A comprehensive analysis integrating clinical investigation, electrophysiological testing, pathological analysis and mutation screening was carried out.",
"The patient has presented clinical and pathological manifestations mimicki... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate a patient featuring 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 complex neuromuscular disease\n <span style=\"font-size: 0.8em; font-... | [
"complex neuromuscular disease",
"spinal muscular atrophy (SMA)",
"SMA",
"neuromuscular disorders"
] | [
"homozygous deletion of exons 7 and 8 in SMN gene"
] | [
"clinical and pathological manifestations mimicking Duchenne muscular dystrophy"
] | null | null | null | [
"no deletion in 21 exons of Dystrophin gene",
"no pathologic expansion of CTG repeats in DMPK gene",
"or CCTG repeats in ZFN9 gene"
] |
duchenne:22872540 | [Abdominal free air without signs of perforated abdominal viscus during non-invasive ventilation]. | [
"A 19-year-old patient suffering from Duchenne muscular dystrophy was admitted to our hospital with an acute bronchopulmonary infection. Four months ago noninvasive ventilation was started because of hypercapnic respiratory failure. Mechanical ventilation had been used so far only at night. At the time of admission... | [
"<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 19-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"acute bronchopulmonary infection"
] | null | [
"hypercapnic respiratory failure",
"fever",
"limited cough strength",
"dyspnoea at rest",
"abdomen was distended because of intestinal gas",
"elevated diaphragms",
"pneumonia could be seen in the left lower lobe",
"able to breathe spontaneously for longer periods",
"cutaneous emphysema",
"free abd... | [
"noninvasive ventilation",
"Mechanical ventilation",
"under mechanical ventilation almost 24 hours per day",
"hospital stay",
"times on mechanical ventilation could be reduced",
"wait-and-see strategy",
"prolonged noninvasive ventilation"
] | null | [
"respiratory acidosis",
"elevation of the inflammation indicating parameters",
"Hypercapnia",
"respiratory acidosis normalized",
"Inflammatory markers were decreasing"
] | [
"spontaneous breathing was not possible",
"exhaustion of the respiratory muscles",
"without clinical signs of acute abdomen",
"even under mechanical ventilation",
"without any clinical correlate",
"without any intervention",
"without any clinical signs of acute abdomen",
"not necessarily force a surgi... |
duchenne:22773723 | Consider muscle disease in children with elevated transaminase. | [
"The transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are markers of hepatocellular injury but are highly concentrated in muscle cells. Consequently, muscular dystrophies such as Duchenne muscular dystrophy, lead to hypertransaminasemia. Elevation in ALT and AST is most striking dur... | [
"<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 transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST)\n <span style=\"font... | [
"muscular dystrophies",
"Duchenne muscular dystrophy",
"muscle disease",
"liver disease",
"muscle disease",
"muscle disease"
] | null | [
"subtle signs of muscle disease"
] | [
"initiation of treatment"
] | null | [
"transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST)",
"hepatocellular injury",
"hypertransaminasemia",
"Elevation in ALT and AST",
"elevated ALT/AST",
"elevated ALT/AST",
"elevated ALT/AST",
"elevated ALT/AST"
] | [
"unnecessary invasive procedures"
] |
duchenne:22718185 | Beneficial effect of ivabradine in dilated cardiomyopathy from Becker muscular dystrophy. | [
"The I(f) blocker ivabradine reduces heart rate and improves systolic function without causing arterial hypotension. Ivabradine has not been reported to improve cardiac involvement in Becker muscular dystrophy (BMD).",
"In a 22-year-old Vietnamese male with BMD, cardiac involvement became apparent at age 19 years... | [
"<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 I(f) blocker ivabradine\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"Dilated cardiomyopathy",
"dilated cardiomyopathy",
"BMD",
"dilated cardiomyopathy",
"BMD"
] | null | [
"reduces heart rate",
"improves systolic function",
"cardiac involvement",
"reduced systolic function",
"sinus tachycardia",
"leg edema",
"coughing",
"arterial hypotension",
"recurrence of sinus tachycardia",
"reduction of blood pressure",
"heart rates between 60 and 80 beats/min",
"systolic b... | [
"I(f) blocker ivabradine",
"ramipril",
"ramipril was successfully replaced by candesartan, ivabradine, and furosemide",
"attempt to discontinue ivabradine and increase candesartan",
"Under ivabradine, candesartan, and spironolactone, which replaced furosemide",
"Ivabradine",
"ivabradine"
] | [
"Vietnamese"
] | null | [
"without causing arterial hypotension",
"Ivabradine",
"improve cardiac involvement",
"without heart failure"
] |
duchenne:22702330 | Anaplastic medulloblastoma in a child with Duchenne muscular dystrophy. | [
"A 9-year-old boy with known Duchenne type muscular dystrophy (DMD) presented with signs of increased intracranial pressure. Radiological investigations revealed a lesion in the midline of the posterior fossa. Subtotal resection was performed. Pathology findings were consistent with the diagnosis of anaplastic medu... | [
"<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... | [
"Duchenne type muscular dystrophy (DMD)",
"anaplastic medulloblastoma",
"malignant brain tumor",
"DMD",
"medulloblastoma",
"DMD"
] | null | [
"signs of increased intracranial pressure",
"lesion in the midline of the posterior fossa",
"severe neurological deterioration",
"lost his capacity to walk",
"still in complete remission"
] | [
"Subtotal resection",
"craniospinal radiation followed by nonintensive chemotherapy"
] | null | null | [
"had not recovered his walking ability"
] |
duchenne:22655515 | Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone. | [
"Recently we reported a cytoplasmic sodium overload to cause a severe osmotic oedema in Duchenne muscular dystrophy (DMD). Our results suggested that this dual overload of sodium ions and water precedes the dystrophic process and persists until fatty muscle degeneration is complete. The present paper addresses the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recently we reported 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 cytoplasmic sodium overload\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD",
"DMD muscle"
] | null | [
"severe osmotic oedema",
"fatty muscle degeneration",
"overloads",
"repolarise depolarised muscle fibres",
"acidifying effects",
"increased muscle strength and mobility",
"fatty degeneration"
] | [
"diuretic drugs",
"carbonic anhydrase inhibitors",
"aldosterone antagonists",
"carbonic anhydrase inhibitors",
"modern spironolactone derivative, eplerenone",
"administered this drug",
"bound to an electric wheelchair",
"Eplerenone",
"eplerenone"
] | null | null | [
"has had no corticosteroid therapy before"
] |
duchenne:22649443 | Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patient. | [
"The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence of DMD is reported as 1/18,000 m... | [
"<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 dystrophinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"dystrophinopathies",
"duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy",
"genetic myopathies",
"DMD",
"DMD",
"dystrophinopathy"
] | [
"X-linked",
"mutations in the dystrophin gene",
"Duplication",
"exon 8 through 9 duplication mutation",
"duplication of exons 8 through 9 of the dystrophin gene in both the patient and his mother",
"sporadic mutation occurring in the grand maternal lineage",
"vulnerability of the dystrophin gene to recu... | null | null | [
"African",
"African/Ghanaian descent",
"African/Ghanaian"
] | null | [
"absence of a family history of dystrophinopathy"
] |
duchenne:22641987 | Elevated troponin T levels in a female carrier of Duchenne muscular dystrophy with normal coronary angiogram: a case report and review of the literature. | [
"We present the case of a 48-year-old female carrier of Duchenne muscular dystrophy (DMD) with repeatedly documented levels of elevated troponin T without arguments for cardiac ischaemia. Elevated levels of troponin T are frequently reported in DMD patients and may function as a useful cardiac index to assess dystr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 48-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"dystrophic degeneration of the myocardium",
"myocardial damage",
"cardiac impairment"
] | null | null | [
"repeatedly documented levels of elevated troponin T",
"Elevated levels of troponin T",
"Cardiac troponins"
] | [
"without arguments for cardiac ischaemia",
"skeletal muscle degeneration"
] |
duchenne:22624101 | Dexmedetomidine-ketamine sedation during upper gastrointestinal endoscopy and biopsy in a patient with Duchenne muscular dystrophy and egg allergy. | [
"Sedation during invasive procedures provides appropriate humanitarian care as well as facilitating the completion of procedure. Although generally safe and effective, adverse effects may occur especially in patients with co-morbid diseases. In many cases, given its rapid onset and offset, propofol is chosen to pro... | [
"<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 Sedation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy (DMD)",
"malignant hyperthermia",
"DMD"
] | null | [
"adverse effects",
"co-morbid diseases"
] | [
"Sedation",
"invasive procedures",
"appropriate humanitarian care",
"propofol",
"sedation",
"invasive procedures",
"combination of dexmedetomidine and ketamine was used for procedural sedation",
"Dexmedetomidine was administered as a loading dose of 1 μg/kg along with a single bolus dose of ketamine (... | null | null | [
"egg allergy",
"relative contraindication to the use of propofol"
] |
duchenne:22616200 | Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype. | [
"With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD associated with an e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">With the possible introduction 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 exon skipping therapy\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Duchenne muscular dystrophy",
"unusually mild BMD",
"Duchenne muscular dystrophy",
"BMD"
] | [
"exon 26 deletion",
"deletion of exon 26 of the dystrophin gene",
"exon 26 deletion of the dystrophin gene",
"exon 26 deletion"
] | [
"slightly delayed motor milestones",
"muscle pain",
"dystrophic changes",
"slight mental retardation",
"low stature",
"neuropathy",
"muscle pain",
"MRC grade 4+ hip extention palsy",
"discrete calf hypertrophy",
"myopathic"
] | [
"exon skipping therapy",
"exon skipping therapy"
] | null | [
"reduced dystrophin band"
] | [
"no complaints of muscle weakness",
"no muscle wasting or loss of power",
"no dystrophy",
"No comorbidity was found",
"normal CK"
] |
duchenne:22581531 | Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. | [
"Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but the optimal age to initiate treatment and dosage pattern remain a matter of discussion.",
"We performed a long-term study of alternate-day corticosteroids in five 2- to 4-year-old DMD patients. The primary outcome measure ... | [
"<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 Corticosteroid treatment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"prolongation of the ability to walk",
"lost ambulation",
"fully ambulant",
"Respiratory function was moderately reduced",
"Left ventricular ejection fraction was > 45%",
"Short stature",
"delayed puberty",
"negative impact of corticosteroid treatment",
"on growth rate",
"prolonging function"
] | [
"Corticosteroid treatment",
"age to initiate treatment",
"long-term study of alternate-day corticosteroids",
"corticosteroid therapy",
"Long-term corticosteroid treatment"
] | null | null | [
"could still climb stairs",
"not in recovering lost function"
] |
duchenne:22549471 | Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation. | [
"X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic 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 X-linked recessive diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne Muscular Dystrophy (DMD)",
"severe X-linked recessive type of muscular dystrophy"
] | [
"X-linked recessive diseases",
"heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle",
"skewed X-inactivation pattern",
"X-linked recessive disorders"
] | [
"clinical symptoms"
] | null | null | null | [
"asymptomatic"
] |
duchenne:22537335 | Variations of left atrial activation patterns in congestive heart failure. | [
"We report about a case of a patient admitted to the Intensive Cardiac Care Unit for severe congestive heart failure which showed modification of P-wave morphology and duration, correlated with the clinical evolution. In the case here described, we show that ECG analysis, specifically P wave, allow us to assess the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report about a case of a patient admitted to 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 Intensive Cardiac Care Unit\n <span style=\"font-size:... | [
"severe congestive heart failure",
"acute decompensated heart failure",
"cardiac diseases",
"severe congestive heart failure"
] | null | [
"modification of P-wave morphology and duration",
"peculiar modification of P-wave morphology and duration"
] | [
"Intensive Cardiac Care Unit",
"Intensive Cardiac Care Unit (ICCU)"
] | null | null | null |
duchenne:22453924 | Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy. | [
"Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein. We ha... | [
"<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... | [
"Becker muscular dystrophy"
] | [
"Mutations in the dystrophin gene",
"Amino acid substitutions",
"novel mutation in exon 11 of the dystrophin gene (c.1280T>C) leading to a L427P amino acid substitution in repeat 1 of the central rod domain",
"partial misfolding of the L427P mutated protein",
"missense mutation"
] | [
"very mild proximal weakness",
"recurrent abdominal pain",
"weak staining of the dystrophin region encoded by exons 7 and 8 corresponding to the end of the actin-binding domain 1 and the N-terminal part of hinge 1",
"alteration in the flexibility of"
] | null | null | [
"moderately elevated serum creatine kinase levels",
"reduced refolding rate after denaturation"
] | [
"without disruption of the reading frame"
] |
duchenne:22425969 | Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing. | [
"Dystrophin (DMD) gene is the largest gene containing 79 exons involving various mutation types and regions, and targeted next-generation sequencing (NGS) was employed in detecting DMD gene mutation in the present study. A literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has ... | [
"<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 Dystrophin (DMD) gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Duchenne Muscular Dystrophy (DMD)-causing mutation",
"DMD"
] | [
"Dystrophin (DMD) gene",
"largest gene containing 79 exons",
"DMD gene mutation",
"literature-annotated disease nonsense mutation (c.10141C>T, NM_004006.1) in exon 70 that has"
] | null | null | null | null | null |
duchenne:22398907 | [Recurrent gastric volvulus resolved surgically after therapeutic percutaneous endoscopic gastrostomy in Duchenne muscular dystrophy]. | [
"A 20-year-old man with Duchenne muscular dystrophy (DMD) with recurrent gastric volvulus underwent percutaneous endoscopic gastrostomy (PEG). Four months later, he developed vomiting and consciousness disturbance. CT revealed gastric volvulus recurrence along the gastrostomy axis. Endoscopic repositioning failed a... | [
"<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 20-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)"
] | null | [
"recurrent gastric volvulus",
"vomiting",
"consciousness disturbance",
"gastric volvulus recurrence along the gastrostomy axis",
"fistula perforation",
"upper position of the stomach was twisted counter-clockwise and revolved on the gastrostomy axis sliding between the lower stomach and abdominal wall",
... | [
"percutaneous endoscopic gastrostomy (PEG)",
"emergency surgery",
"resected",
"The anterior stomach wall was fixed to the abdominal wall at 3 triangular points",
"PEG"
] | null | null | [
"Endoscopic repositioning failed",
"gastric volvulus did not recur"
] |
duchenne:22354404 | [Legal liability problems in outpatient operations. View from an anesthesiological perspective]. | [
"The rapid technical and medical progress in endoscopic and laparoscopic interventions and the increasing acceptance by patients, lead to an expansion of outpatient operations. The endoscopic laparoscopic operation technique, the operative implementation and the inclusion of an accompanying and a surveillance perso... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The rapid technical and medical progress in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n endoscopic and laparoscopic interventions\n <span style=\"font... | null | null | null | [
"endoscopic and laparoscopic interventions",
"outpatient operations",
"endoscopic laparoscopic operation technique",
"operative implementation"
] | null | null | null |
duchenne:22332132 | Unusual respiratory manifestations in two young adults with Duchenne muscular dystrophy. | [
"Adult respirologists are often involved in the evaluation and treatment of young adult patients with Duchenne muscular dystrophy. In this context, the most frequent respiratory complication is nocturnal and daytime hypoventilation related to respiratory muscle weakness. The present article describes cases of Duche... | [
"<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 Adult respirologists\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"respiratory complication",
"nocturnal and daytime hypoventilation",
"respiratory muscle weakness",
"respiratory complications",
"obstructive sleep apnea",
"Cheyne-Stokes respiration with central apnea",
"congestive cardiomyopathy"
] | null | null | null | null |
duchenne:22308874 | A neonate with contiguous deletion syndrome in XP21. | [
"We report a case of a male infant with the association of pseudohypertriglyceridemia, hypoadrenalism (hyponatremia, hyperpotasemia, dehydration), high creatine phosphokinase level (possible Duchenne's muscular dystrophy, DMD) and diagnosed contiguous gene deletion syndrome in Xp21.",
"A 1-month-old male term inf... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"possible Duchenne's muscular dystrophy, DMD)",
"GKD",
"congenital adrenal hypoplasia"
] | [
"contiguous gene deletion syndrome in Xp21.",
"existence of a deletion in Xp21 of the genes responsible for DMD",
"(gene DAX1 or NROB1 gene: Xp21.3-21.2)",
"contiguous gene deletion syndrome in Xp21"
] | [
"dehydration (decreased skin turgor)",
"scrotal hyperpigmentation",
"hypotonia",
"gained weight",
"myopathic compromise",
"metabolic complications"
] | [
"mineralocorticoid therapy"
] | null | [
"pseudohypertriglyceridemia",
"hypoadrenalism (hyponatremia, hyperpotasemia, dehydration)",
"high creatine phosphokinase level",
"hyponatremia of 124 mmol/L",
"hyperpotasemia of 6.9 mg/dL",
"high creatine phosphokinase level of 7019 IU/L",
"high glycerol concentrations both in blood and in urine",
"gl... | [
"no weight gain",
"no deletion detected in the dystrophin gene with the study investigating selected exons",
"no dystrophin staining",
"nonspecific atrophic findings in the muscle biopsy"
] |
duchenne:22303798 | The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. | [
"Limb-girdle muscular dystrophy type 2D (LGMD2D) is caused by autosomal recessive mutations in the alpha-sarcoglycan gene. The clinical, biochemical, histological, imunohistochemical and molecular genetic data in 2 Albanian siblings with LGMD2D (adhalinopathy or alpha-sarcoglycanopathy) are presented and the resemb... | [
"<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 Limb-girdle muscular dystrophy type 2D (LGMD2D)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Limb-girdle muscular dystrophy type 2D (LGMD2D)",
"LGMD2D (adhalinopathy or alpha-sarcoglycanopathy)",
"Duchenne muscular dystrophy (DMD)",
"primary alpha-sarcoglycanopathy",
"severe childhood onset",
"autosomal recessive muscular dystrophy"
] | [
"autosomal recessive mutations in the alpha-sarcoglycan gene",
"homozygosity for a pathogenic point mutation (574C>T) in the alpha-sarcoglycan gene"
] | [
"dystrophic features"
] | null | [
"Albanian",
"Albania"
] | [
"deficiency in two different proteins, the Gamma sarcoglycan protein (-SG) and the Alpha -SG protein (-SG)"
] | [
"negative molecular test for DMD deletions and duplications"
] |
duchenne:22263407 | [Sugammadex, efficacious in reversing a neuromuscular block in a woman with Becker muscular dystrophy]. | [
"Becker muscular dystrophy affects mainly the musculoskeletal system, causing muscle wasting and progressive weakness. A 61-year-old woman with breast cancer, who had been diagnosed with Becker muscular dystrophy 45 years earlier, was scheduled for right mastectomy. We induced general anesthesia with propofol, fent... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Becker muscular dystrophy",
"breast cancer",
"Becker muscular dystrophy"
] | null | [
"the musculoskeletal system",
"muscle wasting",
"progressive weakness",
"maximum decrease in TOF response (to 0 twitches) was at 52 seconds",
"second TOF twitch (T2) reappeared",
"TOFr of 0.7 was reached at 79 seconds",
"TOFr of 0.9 was reached",
"TOFr of 1.0 at 152 seconds"
] | [
"right mastectomy",
"induced general anesthesia with propofol, fentanyl, and a nondepolarizing muscle blocker (rocuronium)",
"reversed with sugammadex",
"preoxygenation with fentanyl and propofol",
"injected 1 mg/kg of rocuronium",
"Tracheal intubation",
"Anesthesia",
"maintained by intravenous infusi... | null | null | [
"uneventful",
"No electrocardiographic or hemodynamic abnormalities",
"no signs of residual neuromuscular blockade on awakening or adverse events in the following 24 hours"
] |
duchenne:22262150 | Physical training in Becker muscular dystrophy associated with heart failure. | [
"Becker muscular dystrophy (BMD) integrates dystrophy occurring due to genetic mutations that express the dystrophin protein in chromosome X. The onset of neuromuscular symptoms usually precedes the impairment of cardiac function, and may conversely happen by heart failure (HF). Physical training is well establishe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"dystrophy",
"heart failure (HF)",
"HF",
"BMD",
"BMD associated with HF"
] | null | [
"neuromuscular symptoms",
"impairment of cardiac function"
] | [
"Physical training",
"cardiac transplant waiting list",
"physical training program"
] | null | null | null |
duchenne:22211728 | Case presentation: abdominal compartment syndrome complicating posterior spinal fusion. | [
"Abdominal compartment syndrome (ACS) is a life-threatening entity that requires rapid recognition and treatment. This case report represents the first case report of ACS associated with the correction of a marked scoliosis. Of the many possible causes for respiratory compromise and cardiovascular collapse associat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Abdominal compartment syndrome (ACS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Abdominal compartment syndrome (ACS)",
"ACS",
"ACS",
"Duchenne muscular dystrophy (DMD)",
"ACS",
"ACS"
] | null | [
"respiratory compromise",
"cardiovascular collapse",
"severe respiratory compromise",
"respiratory acidosis",
"hypoxia",
"hypotension",
"catastrophic decrease in lung compliance",
"Complete recovery",
"life threatening",
"visceral venous drainage or bowel perfusion may be compromised"
] | [
"correction of a marked scoliosis",
"major spine surgery",
"profound spinal curvature correction",
"correction of a severe scoliotic curvature",
"supine positioning",
"laparotomy",
"scoliosis surgery",
"orthopedic surgeons",
"correction of marked scoliosis"
] | null | null | [
"otherwise unremarkable surgery"
] |
duchenne:22115006 | Idiopathic intracranial hypertension in a child with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy is an X-linked, recessively inherited disorder characterized by progressive weakness attributable to the absence of dystrophin expression in muscle. In multiple studies, the chronic administration of corticosteroids slowed the loss of ambulation that develops in mid to late childhood. C... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"X-linked, recessively inherited"
] | [
"progressive weakness",
"absence of dystrophin expression in muscle",
"loss of ambulation",
"unacceptable side effects",
"Cushingoid appearance",
"weight gain",
"equivalent benefits on muscle",
"fewer reported Cushingoid side effects",
"morbid obesity",
"idiopathic intracranial hypertension",
"l... | [
"chronic administration of corticosteroids",
"Corticosteroids",
"Deflazacort, an oxazoline analogue of prednisolone",
"2 years of receiving deflazacort",
"deflazacort",
"prednisone",
"chronic corticosteroid treatment"
] | null | null | null |
duchenne:22095564 | Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. | [
"Long INterspersed Element-1 (LINE-1) retrotransposons comprise 17% of the human genome, and move by a potentially mutagenic \"copy and paste\" mechanism via an RNA intermediate. Recently, the retrotransposition-mediated insertion of a new transcript was described as a novel cause of genetic disease, Duchenne muscu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Long INterspersed Element-1 (LINE-1) retrotransposons\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"genetic disease",
"Duchenne muscular dystrophy",
"LINE-1-induced human disease"
] | [
"RNA intermediate",
"single-copy, noncoding RNA transcribed from chromosome 11q22.3 that retrotransposed into the dystrophin gene",
"nonreference full-length LINE-1 is situated in the proband and maternal genome at chromosome 11q22.3, directly upstream of the sequence, whose copy was inserted into the dystrophi... | null | null | [
"Japanese"
] | null | null |
duchenne:22052614 | Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. | [
"Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked disorders that result from a mutation in the dystrophin gene that reduces the production or effectiveness of the protein dystrophin. These disorders are clinically characterized by progressive muscle degeneration. Manifesting female carriers ar... | [
"<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",
"dystrophinopathies"
] | [
"X-linked disorders",
"mutation in the dystrophin gene"
] | [
"progressive muscle degeneration",
"muscle weakness",
"deterioration of left ventricular systolic function",
"cardiac function",
"left ventricular myocardial dysfunction"
] | [
"dual drug therapy with an ACE inhibitor (enalapril) and a beta-blocker (carvedilol)"
] | null | [
"reduces the production or effectiveness of the protein dystrophin"
] | [
"no marked skeletal muscle weakness"
] |
duchenne:22006698 | Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. | [
"The use of hybridization-based methods for Duchenne muscular dystrophy (DMD) mutation analysis is increasingly common. We report a case of Becker muscular dystrophy in which discrepant results between a polymerase chain reaction (PCR)-based single-condition amplification/internal primer (SCAIP) and a comparative g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 hybridization-based methods\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne muscular dystrophy (DMD) mutation analysis",
"Becker muscular dystrophy"
] | [
"characterized the mutation (an inversion of exons 23 and 24)",
"intronic deletions"
] | null | null | null | null | null |
duchenne:21927688 | How should we monitor pediatric patients with Duchenne muscular dystrophy? -A case report-. | [
"Duchenne muscular dystrophy is a hereditary disorder characterized by progressive muscle weakness and contracture, and special care during anesthesia is needed in these patients. Because inhalational anesthetics and succinylcholine can cause fatal results, intravenous anesthetics are commonly used. However, monito... | [
"<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",
"muscle dystrophy"
] | [
"hereditary disorder"
] | [
"progressive muscle weakness",
"contracture",
"fatal results",
"recovery of TOF ratio to 90%",
"reversal of neuromuscular block"
] | [
"anesthesia",
"inhalational anesthetics",
"succinylcholine",
"intravenous anesthetics",
"general anesthesia",
"midazolam, fentanyl, propofol and a small dose of rocuronium",
"surgery",
"injection of pyridostigmine and glycopyrrolate",
"extubated"
] | null | null | [
"no complication"
] |
duchenne:21888195 | Q waves--does depth matter? | [
"Deep narrow Q waves in an electrocardiogram may be significant and should suggest several possible diagnoses. By considering the leads where they are observed, the presence of additional ECG abnormalities, the applicant's age and any relevant clinical information, one can considerably narrow the diagnostic possibi... | [
"<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 Deep narrow Q waves in an electrocardiogram\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | null | null | [
"Deep narrow Q waves in an electrocardiogram",
"additional ECG abnormalities"
] | null | null | null | null |
duchenne:21861423 | [Anesthetic management of a patient with Becker muscular dystrophy]. | [
"We experienced anesthetic management of a patient with Becker muscular dystrophy. He had advanced dilated cardiomyopathy and high serum CK in the preoperative examinations. Anesthesia was planned to avoid triggering malignant hyperthermia or rhabdomyolysis and hemodynamic changes. Propofol, remifentanil and a mini... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We experienced \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anesthetic management\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Becker muscular dystrophy",
"advanced dilated cardiomyopathy",
"Becker muscular dystrophy"
] | null | [
"rhabdomyolysis",
"hemodynamic changes"
] | [
"anesthetic management",
"Anesthesia",
"Propofol, remifentanil",
"minimum dose of rocuronium bromide",
"anesthetic induction and maintainance",
"total intravenous anesthesia with the administration of rocuronium",
"anesthetic management"
] | null | [
"high serum CK"
] | [
"triggering malignant hyperthermia",
"no adverse events"
] |
duchenne:21804807 | Dexmedetomidine-ketamine sedation during bone marrow aspirate and biopsy in a patient with duchenne muscular dystrophy. | [
"Sedation during invasive procedures not only provides appropriate humanitarian care for patients, but also facilitates the completion of invasive procedures. Although generally safe and effective, adverse effects may occur especially in patients with co-morbid diseases. We present the successful use of a combinati... | [
"<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 Sedation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy (DMD)"
] | null | [
"adverse effects",
"co-morbid diseases",
"both depressed myocardial function",
"impaired respiratory function"
] | [
"Sedation",
"invasive procedures",
"appropriate humanitarian care",
"invasive procedures",
"successful use of a combination of dexmedetomidine and ketamine to provide sedation and analgesia",
"bone marrow aspiration and biopsy",
"Dexmedetomidine was administered as a loading dose of 1 μg/kg over 5 min f... | null | null | [
"No clinically significant hemodynamic or respiratory changes"
] |
duchenne:21795275 | A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years. | [
"A 60-year-old man diagnosed clinically with Becker's muscular dystrophy 20 years ago by another physician presented with gradually progressive proximal muscle weakness since teenage years. Family history revealed a strong paternal familial inheritance pattern of similar distribution of weakness-face, forearm flexi... | [
"<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 60-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker's muscular dystrophy",
"FSHD",
"muscular dystrophy"
] | [
"allele 1 deletion in fascioscapulohumeral muscular dystrophy (FSHD",
"autosomal-dominant inheritance"
] | [
"gradually progressive proximal muscle weakness",
"distinctive pattern of weakness"
] | null | null | [
"B12 deficiency"
] | null |
duchenne:21784636 | Combination of steroids and ischial weight-bearing knee ankle foot orthoses in Duchenne's muscular dystrophy prolongs ambulation past 20 years of age--a case report. | [
"Patients with Duchenne muscular dystrophy (DMD) lose ambulation by age 12. Long-term steroids have lengthened ambulation by 2-5 years. Ischial weight-bearing knee ankle foot orthoses prolong ambulation for 2-3 years. We report the outcome of the ambulatory status of a patient with DMD treated with daily steroid th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | null | [
"lose ambulation",
"lost ambulation",
"regained independent ambulation"
] | [
"Long-term steroids",
"lengthened ambulation",
"Ischial weight-bearing knee ankle foot orthoses",
"prolong ambulation for 2-3 years",
"daily steroid therapy and orthoses",
"treated with daily steroids",
"fitted with orthoses",
"surgical correction of his lower extremity contractures",
"stand indepen... | null | null | [
"lost the ability to arise from the floor and walk up steps"
] |
duchenne:21721455 | Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy. | [
"A Thai 37-years-old man presented with adult onset progressive proximal muscle weakness and generalized myalgia. Family history showed similar symptoms in several male relatives, compatible with X-linked recessive inheritance. Electromyography suggested myopathic process. Serum creatine kinase was highly elevated.... | [
"<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 Thai\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"myopathic process",
"Becker muscular dystrophy (BMD)"
] | null | [
"adult onset progressive proximal muscle weakness",
"generalized myalgia",
"atypical presentation of BMD"
] | [
"steroid treatment"
] | [
"Thai",
"Thai"
] | [
"Serum creatine kinase was highly elevated"
] | null |
duchenne:25885395 | Dexmedetomidine and fentanyl combination for procedural sedation in a case of Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy, an X-linked disorder characterized by progressive muscle weakness, is the most common muscular dystrophy among children leading to death before the end of third decade. Anesthesia in such patients pose a great challenge due to various complications associated with it. The dreaded metab... | [
"<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",
"muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"X-linked disorder"
] | [
"progressive muscle weakness",
"death",
"metabolic and clinical complications"
] | [
"Anesthesia",
"inhalational anesthetics",
"succinylcholine",
"excision of dentigerous cyst in oral cavity",
"procedural sedation with combination of dexmedetomidine and fentanyl"
] | null | null | [
"administration of general anesthesia was avoided"
] |
duchenne:21655206 | Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. | [
"Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relations... | [
"<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 Macroglossia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"271 bp deletion in exon 50 of the dystrophin gene"
] | [
"Macroglossia",
"seizures",
"isolated macroglossia"
] | null | null | null | [
"without any endocrinologic abnormality",
"abnormal karyotype"
] |
duchenne:21644230 | [Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy]. | [
"To identify potential mutations in patients featuring Becker muscular dystrophy (BMD) and to enhance the understanding of non-deletion/duplication mutations of the dystrophin gene causing BMD.",
"Clinical data of two patients affected with BMD were collected. Potential mutations in the dystrophin gene were scree... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To identify potential mutations in patients featuring \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... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD"
] | [
"non-deletion/duplication mutations of the dystrophin gene",
"Potential mutations in the dystrophin gene",
"non-deletion/duplication mutations of the dystrophin gene"
] | [
"dystrophic changes",
"mild phenotypes"
] | null | null | [
"positive result with N-terminal anti-dystrophin antibody"
] | [
"negative result with C-terminal anti-dystrophin antibody",
"without dystrophin gene deletion/duplication"
] |
duchenne:21639928 | Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. | [
"Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystroph... | [
"<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 Diamond-Blackfan anemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Diamond-Blackfan anemia",
"Duchenne muscular dystrophy",
"congenital anomalies",
"Diamond-Blackfan anemia",
"Duchenne muscular dystrophy",
"Diamond-Blackfan anemia",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Diamond-Blackfan anemia",
"Duchenne muscular dystrophy"
] | null | null | [
"Allogeneic hematopoietic stem cell transplantation",
"stem cell therapy",
"successful allogeneic hematopoietic stem cell transplantation",
"allogeneic hematopoietic stem cell transplantation"
] | [
"north Indian descent"
] | [
"creatine phosphokinase levels have significantly decreased to 300 U/L from 14,000 U/L pre-transplant"
] | [
"transfusion-independent",
"no clinical deterioration over the past 45 months"
] |
duchenne:21594857 | [Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin]. | [
"Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; a protein that protects muscle cells from mechanical induced stress during contraction. Mutations in the DMD gene, may lead to different clinical p... | [
"<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)",
"dystrophinopathies",
"DMD",
"severe DMD",
"DMD"
] | [
"genomic disorder",
"Mutations in the DMD gene",
"novel deletion of exons 24-41, predicted to maintain the reading frame",
"disruption of the gamma-actin-binding site located in the central rod domain",
"pathogenic variants in the DMD gene"
] | [
"progressive muscle wasting",
"weakness",
"protects muscle cells from mechanical induced stress during contraction"
] | null | null | [
"absence or abnormal function of dystrophin"
] | null |
duchenne:21520596 | [The use of rocuronium in a patient with Becker muscular dystrophy]. | [
"We report a case of thoracoscopic pulmonary resection for pneumothorax in a patient with Becker muscular dystrophy The sensitivity of nondepolarizing muscle relaxant in a patient with muscle dystrophy is reportedly higher than in a patient without muscle disease, and the duration of the effect is known to be prolo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thoracoscopic pulmonary resection\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"pneumothorax",
"Becker muscular dystrophy",
"muscle dystrophy",
"muscle disease",
"Becker muscular dystrophy"
] | null | [
"sensitivity of nondepolarizing muscle relaxant",
"weight 39",
"TOF ratio reached to 0%",
"84% recovery of TOF ratio"
] | [
"thoracoscopic pulmonary resection",
"general anesthesia",
"target controlled infusion of propofol (3.0 microg x ml(-1)) and 0.4 microg x kg(-1) of min(-1) of remifentanil",
"small amount of rocuronium was also",
"Total amount of rocuronium was 20 mg (0.5 mg x kg(-1)) for intubation with a double-lumen trac... | null | [
"maximum concentration in the plasma or effective site (Cp/Ce) of rocuronium"
] | null |
duchenne:21514860 | Two closely spaced nonsense mutations in the DMD gene in a Malaysian family. | [
"In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"dystrophinopathy"
] | [
"one nonsense mutation in the DMD gene",
"two closely spaced nonsense mutations in the DMD gene",
"two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8",
"Multiple mutations"
] | null | null | [
"Malaysian"
] | null | null |
duchenne:21485682 | The use of rocuronium in a patient with cystic fibrosis and end-stage lung disease made safe by sugammadex reversal. | [
"While the pharmacology of sugammadex has been extensively reviewed, there is limited literature regarding its use in specific clinical settings. Several case reports describe its use in patients with the potential for postoperative respiratory dysfunction; in the settings of myasthenia gravis, Duchenne muscular dy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While the pharmacology 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 sugammadex\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"myasthenia gravis",
"Duchenne muscular dystrophy",
"myotonic dystrophy",
"severe bronchiectasis",
"cystic fibrosis"
] | null | [
"postoperative respiratory dysfunction",
"the potential complications associated with the use of suxamethonium",
"complete neuromuscular block reversal"
] | [
"sugammadex",
"sugammadex",
"neuromuscular block for percutaneous endoscopic gastrostomy insertion",
"use of rocuronium for neuromuscular block",
"short duration procedure",
"sugammadex for neuromuscular block reversal",
"combination of rocuronium and sugammadex",
"perioperative surgical and anaesthet... | null | null | [
"avoid the side-effects of traditional reversal agents"
] |
duchenne:21468271 | Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. | [
"Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There are few reports in which both histochemical and genetic study showed the possible link of overlapping ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Carrier woman of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy (DMD)",
"inflammatory myositis",
"dystrophinopathy",
"proximal muscle myopathy"
] | [
"DMD gene deletion mutation in exon 44",
"highly skewed X inactivation"
] | [
"overlapping inflammatory pathophysiology",
"subacute proximal muscle weakness",
"suspicious perifascicular atrophy",
"heterogeneous diverse findings from normal to interrupted mosaic pattern"
] | null | null | [
"high serum level of creatine kinase",
"fluctuation of serum liver aminotransferase"
] | [
"without definite cause"
] |
duchenne:21413493 | Lesson of the month (1). Myotonic dystrophy and out-of-hospital arrest. | [
"Myotonic dystrophy (MD) is an autosomal dominant disorder which affects both smooth and skeletal muscles. The incidence is approximately 1 in 8,000 births. It is the most common muscular dystrophy to manifest in adulthood, and the second most common skeletal muscle disorder after Duchenne MD. Cardiac rhythm distur... | [
"<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 Myotonic dystrophy (MD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Myotonic dystrophy (MD)",
"muscular dystrophy",
"skeletal muscle disorder",
"Duchenne MD",
"MD"
] | [
"autosomal dominant disorder"
] | [
"affects both smooth and skeletal muscles",
"Cardiac rhythm disturbances",
"death",
"episode of ventricular fibrillation"
] | null | null | null | null |
duchenne:21305657 | Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? | [
"We report on two unprecedented cases of pseudoexon (PE) activation in the DMD gene resulting from pure intronic double-deletion events that possibly involve microhomology-mediated mechanisms. Array comparative genomic hybridization analysis and direct genomic sequencing allowed us to elucidate the causes of the pa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on two unprecedented 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 pseudoexon (PE) activation in the DMD gene\n <span style=\"font-si... | [
"Duchenne phenotype",
"Becker phenotype"
] | [
"pure intronic double-deletion events",
"microhomology-mediated mechanisms",
"the inserted 387-bp PE was originated from an inverted ∼57 kb genomic region of intron 44 flanked by two deleted ∼52 kb and ∼1 kb segments",
"intron 56 two small deletions of 592 bp (del 1) and 29 bp (del 2) directly flanking a 166-... | null | null | null | null | [
"failed to identify cis elements that regulate the inclusion of the PE"
] |
duchenne:21273767 | Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T. | [
"So far, a beneficial effect of combined angiotensin-converting enzyme inhibitors (ACEI) and β-blocker therapy for systolic dysfunction in Duchenne muscular dystrophy (DMD) has been reported only in patients in whom DMD was due to deletions in the dystrophin gene.",
"In a 24-year-old male with DMD due to the poin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">So far, a beneficial effect 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 combined angiotensin-converting enzyme inhibitors (ACEI) and β-blocker therapy... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"deletions in the dystrophin gene",
"point mutation c.4213C>T (p.Gln1405X) in exon 30 of the dystrophin gene",
"point mutation"
] | [
"systolic dysfunction",
"asymptomatic severely reduced systolic dysfunction with a fractional shortening of 14%",
"systolic dysfunction resolved to a fractional shortening of 26% already after 7 months",
"asymptomatic reduced systolic function"
] | [
"combined angiotensin-converting enzyme inhibitors (ACEI) and β-blocker therapy",
"combined therapy with enalapril (2.5 mg/day) and bisoprolol (1.25 mg/day)",
"slow increase in the dosage to 10 mg enalapril/day and 2.5 mg bisoprolol/day",
"combination therapy with ACEI and β-blockers"
] | null | null | [
"absence of dilated cardiomyopathy"
] |
duchenne:21216484 | True euglycemic diabetic ketoacidosis in a person with type 2 diabetes and Duchenne muscular dystrophy. | [
"True euglycemic diabetic ketoacidosis is a rare complication of diabetes. We describe a case of diabetic ketoacidosis in a male with type 2 diabetes and Duchenne muscular dystrophy. He presented with normal plasma glucose as a consequence of starvation, reduced muscle mass and increased body fat."
] | [
"<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 True euglycemic diabetic ketoacidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"diabetes",
"diabetic ketoacidosis",
"type 2 diabetes",
"Duchenne muscular dystrophy"
] | null | [
"starvation",
"reduced muscle mass",
"increased body fat"
] | null | null | [
"True euglycemic diabetic ketoacidosis",
"normal plasma glucose"
] | null |
duchenne:21155054 | Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophin... | [
"<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",
"Duchenne muscular dystrophy (DMD)",
"dystrophinopathy",
"neuromuscular disease",
"DMD",
"DMD",
"myopathic"
] | null | [
"muscle weakness",
"Muscle weakness grade",
"asymmetrical bilateral proximal upper and lower extremities weakness",
"asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy",
"only bilateral asymmetric proximal lower extremities weakness",
"findings of myopathy",
"... | null | null | [
"serum creatine kinase level was elevated"
] | [
"not correlated with muscular weakness"
] |
duchenne:21150251 | Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: a case series. | [
"Obesity is a major public health concern in children. Obesity occurs frequently in boys with Duchenne muscular dystrophy (DMD), complicating treatment and impairing functioning. Parent-focused interventions to facilitate weight loss have been successful in other pediatric samples but have not been studied with thi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Obesity\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Obesity",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"obesity",
"DMD"
] | null | [
"Obesity",
"body weight",
"inconsistent changes in boys' weight",
"decreases in parent weight",
"increases in children's perceived quality of life"
] | [
"Parent-focused interventions",
"weight loss",
"parent-focused treatment",
"parent-focused psychoeducation"
] | null | null | null |
duchenne:21140720 | Opportunities for people with disabilities in the virtual world of Second Life. | [
"The virtual world of Second Life (SL) offers people with disabilities a chance to explore new worlds without being limited by their disabilities. Many people with disabilities use SL for information, support, and entertainment. SL is a computer-based simulated environment in which participants are represented by a... | [
"<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 virtual world of Second Life (SL)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"disabilities",
"disabilities",
"disabilities",
"disabilities"
] | null | [
"increase self-worth",
"physical, emotional, and social adjustment"
] | [
"virtual world of Second Life (SL)",
"SL",
"entertainment",
"SL",
"human-like avatar",
"manipulate objects",
"participate in day-to-day",
"walking",
"dancing",
"information, socialization, and community membership",
"SL",
"SL communities, groups",
"Participating in a virtual world"
] | null | null | [
"without being limited by their disabilities"
] |
duchenne:21134752 | Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4. | [
"Deletions/duplications of exons in the DMD gene cause about 70% of all cases of Duchenne muscular dystrophy (DMD). Most remaining mutations are point mutations or small insertion-deletions located mainly in the coding but also in deep intronic regions of the DMD gene. We describe a novel complex rearrangement in a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Deletions/duplications of exons in the DMD gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"Deletions/duplications of exons in the DMD gene",
"point mutations or small insertion-deletions located mainly in the coding but also in deep intronic regions of the DMD gene",
"novel complex rearrangement",
"insertion of an 80 bp cryptic exon from chromosome 4 between exons 43 and 44 of the dystrophin gene"... | [
"clinical signs of DMD",
"clear pathological changes"
] | null | null | null | [
"undetectable using standard molecular diagnostic methods"
] |
duchenne:21122953 | [Late onset Becker muscular dystrophy. A case report and literature review]. | [
"The first manifestations of Becker's muscular dystrophy usually occur during childhood, as Duchenne's muscular dystrophy, a related disease. However, clinical presentation is usually more heterogeneous and less severe.",
"We report a 54-year-old man who presented with a late onset of Becker's muscular dystrophy,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The first manifestations of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker's muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Becker's muscular dystrophy",
"Duchenne's muscular dystrophy",
"late onset of Becker's muscular dystrophy",
"Becker's muscular dystrophy"
] | [
"Genetic deletion involved mainly exons 45 to 55"
] | [
"distal muscular hypertrophy",
"cardiac involvement",
"functional impairment was milder",
"limb disability"
] | [
"wheelchair bound"
] | null | null | null |
duchenne:21073752 | An unusual case of left ventricular aneurysm in duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) leads to structural heart disease, including dilated cardiomyopathy, in 90% of patients >18 years of age. Despite the ubiquity of cardiomyopathy associated with DMD, ventricular aneurysms in these patients have rarely been reported. We present a case of a basal inferoposterior ane... | [
"<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)",
"structural heart disease",
"dilated cardiomyopathy",
"cardiomyopathy",
"DMD",
"DMD"
] | null | [
"ventricular aneurysms",
"basal inferoposterior aneurysm of the left ventricle"
] | null | null | null | null |
duchenne:21067698 | High frequency chest wall oscillation plus mechanical in-exsufflation in Duchenne muscular dystrophy with respiratory complications related to pandemic Influenza A/H1N1. | [
"Two young boys with Duchenne muscular dystrophy, who had contracted 2009 pandemic influenza A/H1N1 (pH1N1), had been treated with antibiotics and steroids without significant improvement. One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atele... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Duchenne muscular dystrophy",
"2009 pandemic influenza A/H1N1 (pH1N1)",
"neuromuscular"
] | null | [
"severe scoliosis",
"extensive pulmonary bilateral segmental atelectasis",
"clinical and radiological findings rapidly improved",
"clinically recovered"
] | [
"sequential respiratory physiotherapy protocol",
"application of multiple sessions of high-frequency chest wall oscillations, each one followed by mechanically assisted coughing manoeuvres"
] | null | null | [
"treated with antibiotics and steroids",
"without significant improvement",
"special positioning was not required",
"scoliosis prevents conventional respiratory physiotherapy"
] |
duchenne:20944443 | Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). | [
"Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-based method of mul... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"severe recessive X-linked",
"form of muscular dystrophy",
"DMD",
"DMD"
] | [
"mutations in the dystrophin gene",
"deletion of exons 46 and 47 in the dystrophin gene",
"karyotype is 46,X,i(X)(q10)",
"de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome"
] | null | null | null | [
"loss of dystrophin function"
] | [
"No obvious phenotype of Turner syndrome",
"was observed"
] |
duchenne:20871148 | Complete immobility as a potential biomechanical complication of Achilles tendon lengthening. | [
"Proximal muscle weakness is a common association of muscular dystrophies. Knees and hip extensor weakness limit the patients' ability to counteract flexor knee joints' moments. Therefore, patients try to toe walk to move the ground reaction force (GRF) anteriorly to help to stabilise the knee. We report a case of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Proximal muscle weakness\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"muscular dystrophies",
"Becker's muscular dystrophy"
] | null | [
"Proximal muscle weakness",
"Knees and hip extensor weakness",
"lost his ability to walk completely",
"creation of excessive knees flexion moments"
] | [
"toe walk to move the ground reaction force (GRF) anteriorly",
"stabilise the knee",
"bilateral Achilles tendons operation",
"ability to heel-strike moved his GRF posteriorly",
"the operation",
"following a lengthy rehabilitation programme",
"managed to mobilise using an orthosis"
] | null | null | [
"ability to counteract flexor knee joints' moments"
] |
duchenne:20827276 | Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA. | [
"Non-autonomous retrotransposon-mediated mobilizations of the Alu family are known pathogenic mechanisms of human disease. Here, we report a pathogenic, contemporary, non-autonomous retrotransmobilization of part of a novel non-coding gene into the dystrophin gene. In a Japanese Duchenne muscular dystrophy patient,... | [
"<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 Non-autonomous retrotransposon-mediated mobilizations of the Alu family\n <span style=\"font-size: 0.8em; ... | [
"Duchenne muscular dystrophy"
] | [
"Non-autonomous retrotransposon-mediated mobilizations of the Alu family",
"contemporary, non-autonomous retrotransmobilization of part of a novel non-coding gene into the dystrophin gene",
"330-bp-long de novo insertion was identified in exon 67 of dystrophin",
"induced exon 67-skipping in the dystrophin mRN... | null | null | [
"Japanese"
] | null | [
"sequence did not match any known retrotransposons",
"no meaningful protein coding ability"
] |
duchenne:20687186 | Joseph's wishes: ethical decision-making in Duchenne muscular dystrophy. | [
"The death of a child is an uncommon occurrence and can be difficult for families to accept. Attempts by the healthcare team to discuss end-of-life issues can be so upsetting to families that they refuse to participate in the discussion. Even with diseases where an early death can be anticipated, such as Duchenne m... | [
"<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 death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Duchenne muscular dystrophy"
] | null | [
"death",
"early death"
] | null | null | null | [
"refuse to participate",
"reluctant to discuss"
] |
duchenne:20683981 | Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. | [
"Array comparative genomic hybridization has increasingly become the standard of care to evaluate patients for genomic imbalance. As the patient population evaluated by microarray expands, there is certain to be an increase in the detection of unexpected, yet common diseases. When array results predict a late-onset... | [
"<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 Array comparative genomic hybridization\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"late-onset disorder",
"cancer predisposition",
"Duchenne muscular dystrophy"
] | [
"unexpected deletion within the dystrophin gene",
"dystrophin deletion predictive of Becker muscular dystrophy",
"deletion predictive"
] | [
"nonspecific phenotypic findings"
] | [
"proactive treatment"
] | null | null | [
"despite that no patient was suspected of a dystrophinopathy",
"at the time of testing"
] |
duchenne:20621521 | Cerebral infarction in Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked form of muscular dystrophy characterized by progressive limb-girdle distribution of muscle weakness. Morbidity related to cardiomyopathy (CMO) is common, but cerebral infarction (CI) is relatively rare in these patients. We report a case of a pontine infarct in a pa... | [
"<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)",
"form of muscular dystrophy",
"cardiomyopathy (CMO)",
"DMD",
"advanced CMO",
"CMO",
"DMD"
] | [
"X-linked"
] | [
"progressive limb-girdle distribution of muscle weakness",
"Morbidity",
"cerebral infarction (CI)",
"pontine infarct",
"CI"
] | null | null | null | null |
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