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:33416279 | Expanded Carrier Screening and the Complexity of Implementation. | [
"Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of genetic disorders at the same time; these large panels are referred to as expanded carrier screening. This process can screen couples for far more conditions than the gene-by-gene approach used with tr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Advances in genetic technology have allowed for the development of multiplex panels that can test for hundreds of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\... | null | [
"genetic disorders"
] | null | [
"pretest and posttest counseling",
"expanded carrier screening"
] | null | null | null |
duchenne:33363799 | A child with duchenne muscular dystrophy: A case report of a rare diagnosis among Africans. | [
"In Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even though the data on prevalence is limited, we need to have a high degree of suspicion in patients presenting with suggestive... | [
"<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 Africa\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"rare diseases",
"dystrophinopathies"
] | null | null | null | [
"Africa"
] | null | null |
duchenne:33334361 | Confined placental mosaicism of Duchenne muscular dystrophy: a case report. | [
"Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reported case of confined placental mosaicism for an intragenic Duchenne muscular dystrophy (DMD) gene deletion."... | [
"<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 Small copy number variations confined to the placenta\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"trisomy 21",
"confined placental mosaicism"
] | [
"confined placental mosaicism for an intragenic Duchenne muscular dystrophy (DMD) gene deletion",
"confined placental mosaicism for an intragenic DMD deletion",
"deletion of exons 61-62 in the DMD gene in approximately 50% of the cells",
"tissue specific fragile sites",
"submicroscopic copy number variation... | [
"Small copy number variations confined to the placenta",
"male fetus",
"chorionic villus sample"
] | null | null | null | [
"normal results for chromosomes 13, 18 and 21",
"normal result for the DMD gene",
"misdiagnosis of the fetus"
] |
duchenne:33329960 | Recurrent Exercise-Induced Rhabdomyolysis in a Healthy Adolescent Girl. | [
"Female symptomatic carriers of Duchenne muscular dystrophy (DMD) are uncommon findings. Much of this disease has been studied from a male perspective, but female disease presentation and progression are rarely described. This report describes a female adolescent patient with a rare and unconventional presentation ... | [
"<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"
] | null | null | null | null | null | null |
duchenne:33305858 | Thyroid storm after mitral valve repair in a patient with Becker muscular dystrophy. | [
"A 40-year-old male with Becker muscular dystrophy presented with severe mitral regurgitation and underwent mitral valve repair. Following the surgery, the patient became tachycardic and developed a continuous high-grade fever and hyperbilirubinemia. The patient's condition worsened and we eventually tested his thy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 40-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy",
"severe thyroid storm",
"thyroid storm"
] | null | [
"severe mitral regurgitation",
"tachycardic",
"continuous high-grade fever",
"immediate improvement of symptoms"
] | [
"mitral valve repair",
"surgery",
"oral administration of Lugol's iodine and thiamazole, as well as an intravenous steroid",
"open-heart surgery"
] | null | [
"hyperbilirubinemia",
"abnormally high thyroid levels"
] | null |
duchenne:33305170 | Beneficial effects of one-month sacubitril/valsartan treatment in a patient affected by end-stage dystrophinopathic cardiomyopathy. | [
"Dystrophinopathic cardiomyopathy (DCM) is an almost constant manifestation in Becker muscular dystrophy (BMD) patients significantly contributing to morbidity and mortality. The nearly complete replacement of the myocardium by fibrous and fatty connective tissue results in an irreversible cardiac failure, character... | [
"<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 Dystrophinopathic cardiomyopathy (DCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Dystrophinopathic cardiomyopathy (DCM)",
"Becker muscular dystrophy (BMD)",
"DCM",
"dystrophinopathic end stage dilated cardiomyopathy"
] | null | [
"irreversible cardiac failure",
"progressive reduction of the ejection fraction",
"heart failure",
"reduced ejection fraction",
"reduced ejection fraction"
] | [
"sacubitril/valsartan",
"sacubitril/valsartan",
"sacubitril/valsartan treatment"
] | null | null | [
"remain symptomatic despite an optimal medical therapy"
] |
duchenne:33294606 | Psychological Case Conference Following the Death of a Patient With Neuromuscular Disease: A Source of Emotional Support for Participating Medical Staff. | [
"Healthcare professionals involved in the treatment and care of patients with intractable diseases, such as muscular dystrophy, increasingly encounter situations that can elicit emotional distress for them as well as the patients. Therefore, medical professionals also need support. This article describes a psycholo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Healthcare professionals involved in the treatment and care of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intractable diseases\n <span ... | [
"intractable diseases",
"muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"emotional distress",
"alleviate emotional and personal conflicts",
"burnout"
] | [
"psychological case conference"
] | null | null | null |
duchenne:33277141 | Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy. | [
"Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases.",
"The influence of systemic inflammation on serum creatine kinase levels was reviewed from the charts of three subjects with Fukuyama con... | [
"<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 Marked decreases in serum creatine kinase levels\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Duchenne",
"Becker muscular dystrophies",
"autoimmune or autoinflammatory diseases",
"Fukuyama congenital muscular dystrophy",
"Fukuyama congenital muscular dystrophy"
] | null | [
"systemic inflammation",
"infectious events",
"mitigating muscle cell damage",
"febrile infectious episodes",
"muscular symptoms"
] | [
"administration of 2 mg/kg/d prednisolone for bronchial asthma",
"Corticosteroids"
] | null | [
"Marked decreases in serum creatine kinase levels",
"serum creatine kinase levels",
"Elevated serum C-reactive protein levels",
"decreased creatine kinase levels",
"decrease in creatine kinase level",
"increase in endogenous cortisol secretion",
"inflammation-related molecules"
] | null |
duchenne:33176713 | Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report. | [
"Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophies (DMDs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophies (DMDs)",
"neuromuscular disorders",
"DMD",
"DMD"
] | [
"X-linked recessive",
"mosaic DMD mutations",
"X-linked familial disorders",
"two variants of the DMD gene",
"hemizygous mutation c.6794delG (p.G2265Efs*6) of DMD",
"novel heterozygous mutation c.6796delA (p.I2266Ffs*5) of the same gene, which was considered to be a de novo variant, was detected from his ... | [
"malfunction or absence of the Dystrophin protein"
] | [
"genetic counseling"
] | [
"Chinese"
] | null | [
"no mutation is detected in obligate carriers"
] |
duchenne:33173022 | Flexible intramedullary nailing for supracondylar femoral fractures in children with Duchenne muscular dystrophy. | [
"BACKGROUND Femoral fractures are common in patients with Duchenne muscular dystrophy (DMD) and represent a critical moment in the natural history of the disease. The immobilization required for fracture healing frequently leads to further weakening and worsening (or definitive loss) of functional abilities. Surgic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Femoral fractures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"Femoral fractures",
"further weakening and worsening (or definitive loss) of functional abilities",
"supracondylar femoral fractures",
"prompt recovery of the upright standing position and successive ambulation",
"higher functional status before the fracture",
"femoral fracture"
] | [
"immobilization",
"fracture healing",
"Surgical treatment",
"ambulatory",
"nonambulatory",
"rapid mobilization of patients",
"flexible intramedullary nailing (FIN)",
"surgical procedures",
"sufficient reduction and stabilization of fractures",
"Rapid mobilization of the patients",
"muscle streng... | null | null | [
"still able to walk or stand",
"the standing ability was not recovered",
"No increase of knee flexion contractures",
"no growth disturbances",
"able to stand"
] |
duchenne:33062510 | Tension Pneumocephalus in a Tracheostomized, Chronically Ventilated, Duchenne's Muscular Dystrophy Patient Without Prior Head Trauma. | [
"Tension pneumocephalus is a rare condition that can be a life-threatening neurosurgical emergency. It usually results from head trauma, but there have been case reports of iatrogenic causes including on non-invasive mechanical ventilation. We report a case of pneumocephalus resulting from high mechanical ventilati... | [
"<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 Tension pneumocephalus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne's muscular dystrophy",
"pneumonia",
"Methicillin-resistant Staphylococcus aureus",
"hospital-acquired pneumonia"
] | null | [
"Tension pneumocephalus",
"head trauma",
"pneumocephalus",
"shortness of breath",
"intermittent fevers",
"left-lower lobe consolidation",
"persistent fevers",
"septic shock",
"persistent shock",
"improvement in hemodynamics",
"further respiratory acidosis",
"peak inspiratory pressures (PIPs) p... | [
"non-invasive mechanical ventilation",
"high mechanical ventilation pressures",
"ventilator-dependent through tracheostomy",
"linezolid",
"switched to vancomycin and piperacillin-tazobactam",
"multiple pressors as well as stress steroids",
"Neurosurgical consultation",
"Comfort measures",
"surgery",... | null | null | [
"without prior head trauma",
"on his usual ventilator settings",
"PIPs did not improve with suctioning or after bronchoscopy",
"non-reactive fixed and dilated pupils",
"family declined intervention",
"overall debilitated stated"
] |
duchenne:33050418 | Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene. | [
"Pseudoexon (PE) inclusion has been implicated in various dystrophinopathies; however, its splicing characteristics have not been fully investigated. This study aims to analyze the splicing characteristics of dystrophin PEs and compare them with those of dystrophin canonical exons (CEs). Forty-two reported 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 Pseudoexon (PE) inclusion\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"dystrophinopathies"
] | [
"Pseudoexon (PE) inclusion",
"dystrophin PEs",
"dystrophin PEs",
"dystrophin PEs",
"characteristics of poison exons",
"stronger 3' ss",
"auxiliary SREs",
"dystrophin PEs",
"smaller density of diverse types of exonic splicing enhancers and a higher density of several types of exonic splicing silencer... | null | null | null | null | null |
duchenne:33049940 | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. | [
"A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy.... | [
"<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-month old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"muscular dystrophy",
"Duchenne-type muscular dystrophy"
] | [
"~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene",
"pathogenic loss-of-function variant",
"The X-chromosomal variant",
"partial deletion of the DMD gene was either transmitted on the maternal path",
"spontaneous partial deletion in DMD gene"
] | [
"paraparesis of the hindlimbs",
"cardiac arrest",
"died",
"severe thickness of the diaphragm, esophagus, and base of the tongue",
"marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers"
] | null | [
"Jack Russell Terrier",
"Jack Russell Terrier"
] | [
"absence of dystrophin"
] | [
"non-functional dystrophin"
] |
duchenne:33029547 | The Neurocognitive and Behavioral Profiles of 3 Brothers With Becker Muscular Dystrophy. | [
"Becker muscular dystrophy patients generally carry in-frame mutations in the dystrophin gene, allowing the production of partially functional dystrophin protein. The presence of cognitive and behavioral comorbidities and the relation with the location of mutations has been scarcely investigated in Becker. This cas... | [
"<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",
"Becker",
"Becker",
"Becker"
] | [
"in-frame mutations in the dystrophin gene",
"in-frame deletion of exons 45-48"
] | [
"cognitive and behavioral comorbidities",
"neurocognitive and behavioral profiles",
"difficulties with processing speed and math",
"intellectual abilities, executive functions, working memory, attention and reading abilities",
"Variability in cognitive development",
"cognitive and behavioral functions"
] | null | null | [
"partially functional dystrophin protein"
] | [
"Intellectual abilities were normal to high"
] |
duchenne:32904909 | MPV promote adherence to nocturnal NIV in a Duchenne patient. | [
"We described a case of a patient 20 years old, affected by Duchenne dystrophy with obstructive sleep apnoea syndrome and severe nocturnal desaturation. He was not compliant to non-invasive ventilation (NIV) for claustrophobia and panic attacks. Mouthpiece ventilation was successfully used in this patient, who late... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We described a case of a patient \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 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Duchenne dystrophy",
"obstructive sleep apnoea syndrome"
] | null | [
"severe nocturnal desaturation"
] | [
"Mouthpiece ventilation",
"accepted the nighttime NIV"
] | null | null | [
"was not compliant to non-invasive ventilation (NIV) for claustrophobia and panic attacks"
] |
duchenne:32845106 | Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning. | [
"We report a case of Xp21 deletion syndrome, a contiguous gene syndrome associating glycerol kinase deficiency, Duchenne muscular dystrophy, and congenital adrenal hypoplasia. This results in a contraindication to the use of all halogenated agents and of propofol. We used regional anesthesia combined with dexmedeto... | [
"<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 Xp21 deletion syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Duchenne muscular dystrophy"
] | [
"Xp21 deletion syndrome",
"contiguous gene syndrome"
] | [
"congenital adrenal hypoplasia"
] | [
"regional anesthesia combined with dexmedetomidine and ketamine",
"received inadvertently a propofol-based total intravenous anesthesia (TIVA)",
"propofol",
"as a bolus dose of a 2% solution"
] | null | [
"glycerol kinase deficiency"
] | [
"contraindication to the use of all halogenated agents and of propofol",
"with no clinical side effects",
"unfortunately unable to document the metabolic consequences of this glycerol load"
] |
duchenne:32826339 | X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination. | [
"Disorders of central and peripheral nervous system should be considered in floppy infants with ventilator dependence. Workup for neuromuscular disorders should be undertaken in infants with hypotonia, weakness, contractures, feeding difficulties, or failed attempts at extubation. We present the case of a preterm i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Disorders of central and peripheral nervous system\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Disorders of central and peripheral nervous system",
"neuromuscular disorders",
"rare combination of 2 neuromuscular conditions: X-linked myotubular myopathy and Duchenne muscular dystrophy"
] | null | [
"ventilator dependence",
"hypotonia",
"weakness",
"contractures",
"feeding difficulties",
"hypotonia",
"ventilator dependence"
] | null | null | null | [
"failed attempts at extubation",
"despite a positive result, further investigations were undertaken because of lack of clinical correlation"
] |
duchenne:32738034 | Is heart transplantation a real option in patients with Duchenne syndrome? Inferences from a case report. | [
"Duchenne muscular dystrophy (DMD) is the most frequent and severe form of MD. It firstly affects the skeletal muscles, causing severe disability, and subsequently the myocardium. The only two options to treat end-stage heart failure in these patients are either a left ventricular assist device (LVAD) implantation ... | [
"<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)",
"MD",
"end-stage heart failure",
"DMD",
"dilated cardiomyopathy",
"DMD",
"DMD",
"DMD disease",
"DMD",
"DMD"
] | null | [
"affects the skeletal muscles",
"severe disability",
"myocardium",
"infection of the exit site",
"higher values of forced vital capacity, forced expiratory volume in 1 s, and peak expiratory flow",
"stable thoraco-abdominal function over the years",
"LVAD-related complication"
] | [
"left ventricular assist device (LVAD) implantation as destination therapy",
"heart transplant",
"a wheelchair from the age of 11",
"HeartWare LVAD implantation, as destination therapy",
"LVAD implantation",
"antibiotics and surgical toilette",
"heart transplant",
"treated with steroids",
"heart tra... | null | null | [
"without post-operative complications",
"neither scoliosis nor need for non-invasive mechanical ventilation",
"no post-operative complications"
] |
duchenne:32669210 | Rare intronic mutation between Exon 62 and 63 (c.9225-285A>G) of the dystrophin gene associated with atypical BMD phenotype. | [
"Dystrophinopathies are predominantly caused by deletions, duplications and point mutations in the coding regions of the dystrophin gene with less than 1% of all pathogenic mutations identified within intronic sequences. We describe a 17-year-old male with a Becker muscular dystrophy diagnosis and mental disability... | [
"<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",
"Becker muscular dystrophy"
] | [
"deletions, duplications and point mutations in the coding regions of the dystrophin gene",
"intron mutation that led to aberrant splicing and formation of an additional exon",
"intron mutation between exons 62 and 63 of the dystrophin gene known for pseudoexon formation and disruption of the reading frame"
] | [
"mental disability",
"signs of muscular dystrophy",
"increased intracellular-weighted sodium signal",
"in leg muscles"
] | null | null | [
"reduced signal for dystrophin, alpha-sarcoglycan, and alpha-dystroglycan"
] | [
"did not identify a mutation in the coding regions"
] |
duchenne:32504006 | Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report. | [
"Becker muscular dystrophy (BMD) is caused by specific mutations in the DMD gene that causes progressive muscle weakness and primarily affects skeletal and cardiac muscle. Although cardiac involvement is a significant cause of mortality in BMD, the genetic-phenotype correlation for skeletal and cardiac muscles 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 Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD",
"severe dilated cardiomyopathy",
"BMD"
] | [
"specific mutations in the DMD gene",
"hemizygous c.264 + 1G>A mutation in intron 4 of the DMD",
"exon 4 skipping of the DMD"
] | [
"progressive muscle weakness",
"primarily affects skeletal and cardiac muscle",
"cardiac involvement",
"cardiac muscles",
"subtle skeletal muscle weakness in the right leg",
"skeletal and cardiac muscles",
"dystrophic pathology",
"muscle fiber atrophy and hypertrophy",
"mild degree of interstitial f... | [
"left ventricular restoration"
] | null | [
"decreased amount of truncated dystrophin in skeletal muscle"
] | [
"difficulty climbing stairs",
"Neither duplication nor deletion of exons was detected",
"almost normal staining of the cardiac muscle membranes",
"surprisingly almost normal amount in cardiac muscle",
"despite preserved cardiac truncated dystrophin expression"
] |
duchenne:32417791 | Rehabilitation Following Fracture in Dystrophinopathy, A Case Series. | [
"Boys with dystrophinopathies (DMD) are at increased risk of low bone mineral density and fracture. Femoral fracture is the most common extremity fracture and is accompanied by significant risk of functional loss. Care considerations for DMD have stressed that aggressive management may be needed to maintain ambulat... | [
"<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 Boys\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-... | [
"dystrophinopathies (DMD)",
"DMD",
"femoral fracture",
"DMD",
"DMD",
"dystrophinopathies"
] | null | [
"low bone mineral density",
"fracture",
"Femoral fracture",
"extremity fracture",
"functional loss",
"independently ambulatory",
"Median 10m walk speed prior to their first fracture was 8 sec (7-17.37)",
"less than the 9 seconds predictive of 2 year ambulation retention",
"incident causing fracture"... | [
"aggressive management",
"maintain ambulation",
"surgical fixation",
"early mobilization",
"course of care undertaken",
"surgically stabilized",
"Following the first fracture",
"with hand held support or contact guard",
"Prompt orthopedic intervention",
"early mobility",
"intensive rehabilitatio... | null | null | [
"No patient regained the ability to rise from the floor",
"regained the ability to climb steps"
] |
duchenne:32365922 | Co-Transplantation of Bone Marrow-MSCs and Myogenic Stem/Progenitor Cells from Adult Donors Improves Muscle Function of Patients with Duchenne Muscular Dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a genetic disorder associated with a progressive deficiency of dystrophin that leads to skeletal muscle degeneration. In this study, we tested the hypothesis that a co-transplantation of two stem/progenitor cell populations, namely bone marrow-derived mesenchymal stem cells (BM... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"genetic disorder",
"dystrophin gene mutation"
] | [
"skeletal muscle degeneration",
"improve the skeletal muscle function",
"increase in motor unit parameters, especially in terms of duration, amplitude range, area, and size index",
"pro-regenerative potential of SM-SPCs",
"trophic, paracrine, and immunomodulatory activity",
"skeletal muscle recovery"
] | [
"co-transplantation of two stem/progenitor cell populations, namely bone marrow-derived mesenchymal stem cells (BM-MSCs) and skeletal muscle-derived stem/progenitor cells (SM-SPCs), directly into the dystrophic muscle",
"expanded in a closed MC3 cell culture system",
"simultaneous co‑transplantation of BM-MSCs ... | null | [
"deficiency of dystrophin",
"decrease in creatine kinase levels",
"normalised profile of pro-inflammatory cytokines"
] | [
"did not observe any adverse effects after the intramuscular administration of cells"
] |
duchenne:32348941 | Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C. | [
"Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein... | [
"<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)",
"BMD",
"Duchenne Muscular Dystrophy",
"BMD",
"BMD"
] | [
"X-linked syndrome",
"mutations in the dystrophin gene",
"splice mutation in the dystrophin gene (c.1705-8 T>C)",
"expressed pluripotency markers"
] | [
"progressive muscle weakness"
] | null | null | [
"truncated but partially functional dystrophin protein"
] | [
"normal karyotype"
] |
duchenne:32317190 | Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene. | [
"Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness, pseudohypertrophic deltoid and gastrocnemius muscles since early childho... | [
"<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 Muscle dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Duchenne Muscle dystrophy (DMD)"
] | [
"X-linked inherited disease",
"severe mutations in DMD gene",
"hemizygous silent variant, c.1329C>T (p.Ser443=) in exon 11",
"silent mutation, listed in the SNP database (rs1060502631)",
"partial skipping of exon 11 due to this mutation",
"silent mutations",
"silent mutations"
] | [
"proximal muscle weakness",
"pseudohypertrophic deltoid and gastrocnemius muscles"
] | null | [
"Mongolian"
] | [
"absence of dystrophin protein",
"Lactate dehydrogenase (LDH) and creatine kinase (CK) levels were elevated"
] | [
"variant of unknown significance (VUS)"
] |
duchenne:32311965 | Laparoscopic gynecological surgery in an adult woman with Becker muscular dystrophy performed with sevoflurane with cisatracurium anesthesia: A case report. | [
"Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are progressive neuromuscular disorders caused by mutations in the dystrophin gene. The management of anesthesia in patients with BMD is complicated because they are highly sensitive to the conventional anesthetics such as volatile anesthetics 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 (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"Duchenne muscular dystrophy (DMD)",
"progressive neuromuscular disorders",
"BMD",
"DMD",
"BMD",
"BMD",
"DMD",
"BMD",
"BMD",
"type 2 diabetes mellitus",
"diffuse adenomyosis",
"BMD"
] | [
"mutations in the dystrophin gene"
] | [
"serious complications",
"mass in the uterus",
"able to walk slowly",
"hypertension since 4 years",
"abnormal uterine bleeding",
"diffuse enlargement of the uterus",
"hypoechoic internal echoes",
"multiple uterine leiomyomas",
"adverse effects",
"fully conscious"
] | [
"anesthesia",
"volatile anesthetics and muscle relaxants",
"anesthesia",
"surgery with general anesthesia",
"flurane-inhaled anesthesia",
"flurane-induced anesthesia",
"laparoscopic hysterectomy and bilateral adnexectomy under general anesthesia",
"surgery",
"laparoscopic hysterectomy and bilateral ... | null | [
"elevated CA125"
] | [
"uneventful",
"normal vital signs",
"no complications"
] |
duchenne:32270339 | Duchenne Muscular Dystrophy: the Heart of the Matter. | [
"Duchenne muscular dystrophy is one of many neuromuscular disorders, but it frequently causes severe disability early in life and early death. Cardiac involvement is an important cause of morbidity and mortality.",
"Heart disease in Duchenne muscular dystrophy can include a cardiomyopathy leading to end-stage hea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"neuromuscular disorders",
"Heart disease",
"Duchenne muscular dystrophy",
"cardiomyopathy",
"heart disease",
"Duchenne muscular dystrophy"
] | null | [
"severe disability",
"early death",
"Cardiac involvement",
"end-stage heart failure",
"supraventricular and ventricular arrhythmias"
] | null | null | null | null |
duchenne:32195738 | Glucocorticoid-Associated Demise of a Patient With Duchenne Muscular Dystrophy. | [
"We describe the clinical deterioration of a 26-yr-old man with Duchenne muscular dystrophy on oral daily high-dose deflazacort. Although this daily regimen was targeted to benefit ambulation and respiration, it resulted in premature death with lethal sequelae from liver failure, decubiti, diabetes mellitus, and mo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the clinical deterioration of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26-yr-old\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"premature death",
"lethal sequelae",
"liver failure",
"decubiti",
"diabetes mellitus",
"morbid obesity"
] | [
"oral daily high-dose deflazacort",
"daily regimen",
"benefit ambulation and respiration",
"daily glucocorticoid therapy, specifically deflazacort",
"curtailment of daily dosing"
] | null | null | null |
duchenne:32153624 | 46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China. | [
"The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese pedigree. Chromosome karyotype G-banding analysis of the proband showed a 46,XX karyotype, but B-ultrasound analysis demons... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The present study describes the first prenatally diagnosed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 46,XX testicular disorders of sex development\n ... | [
"46,XX testicular disorders of sex development",
"(46,XX testicular DSD)",
"DMD",
"sex reversal",
"pregnancy"
] | [
"DMD gene mutation",
"46,XX karyotype",
"de novo SRY (sex-determining region Y) gene positive fragment of 224.34 kb length (chrY:2,649,472-2,873,810)",
"widely reported pathogenic heterozygous nonsense mutation (NM_004006, c.9100C>T, p.Arg3034Ter) in the dystrophin-coding gene named DMD",
"X-linked conditio... | [
"existence of scrotum, testis and penis",
"male sexual differentiation",
"gonadal/genital-chromosomal inconsistency"
] | [
"abortions",
"genetic counseling/analysis",
"pre-symptom interventions"
] | [
"Chinese"
] | null | null |
duchenne:31977139 | Fatal liver failure after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy and atypical pharmacogenetic profile of drug-metabolizing enzymes. | [
"Paracetamol has a good safety profile, but pharmacogenetic differences in drug-metabolizing enzymes may have an impact on its risk of hepatotoxicity. We present a case of fatal acute liver failure (ALF) after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy, where pharmacogenetic scre... | [
"<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 Paracetamol\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"hepatotoxicity",
"fatal acute liver failure (ALF)",
"Duchenne muscular dystrophy",
"severe ALF",
"paracetamol-induced hepatotoxicity",
"neuromuscular diseases",
"hepatotoxicity"
] | [
"pharmacogenetic differences in drug-metabolizing enzymes",
"pharmacogenetic variability"
] | [
"died",
"reduced muscle mass",
"toxicity"
] | [
"Paracetamol",
"therapeutic doses of paracetamol",
"electively admitted for a tracheostomy",
"total of 14.5 g paracetamol was given over four days",
"therapeutic doses of paracetamol",
"analgesic treatment"
] | null | [
"absent CYP2D6 metabolism",
"increased CYP1A2 activity",
"decreased function of UGT2B15",
"increases the amount of paracetamol available for metabolism to NAPQI",
"reduced glutathione levels to detoxify produced NAPQI"
] | null |
duchenne:31959102 | Anesthetic management of a patient with a continuous-flow left ventricular assist device for video-assisted thoracoscopic surgery: a case report. | [
"As patients with left ventricular assist device (LVAD) have long expected survival, the incidence of noncardiac surgery in this patient population is increasing. Here, we present the anesthetic management of a patient with a continuous-flow LVAD who underwent video-assisted thoracic surgery (VATS).",
"A 37-year-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">As 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 left ventricular assist device (LVAD)\n <span style=\"font-size: 0.8em; font-weight: bold... | null | null | [
"repeated spontaneous pneumothorax",
"marginal right heart function",
"worsen pulmonary vascular resistance (PVR)",
"increase in PVR",
"right heart failure",
"progressive hypoxia",
"dilated right ventricle and a temporally flattened interventricular septum",
"central venous pressure increased to appro... | [
"left ventricular assist device (LVAD)",
"noncardiac surgery",
"anesthetic management",
"continuous-flow LVAD",
"video-assisted thoracic surgery (VATS)",
"LVAD",
"VATS",
"VATS",
"one-lung ventilation (OLV)",
"set in a lateral decubitus position",
"OLV",
"dobutamine and milrinone",
"respirato... | null | null | null |
duchenne:31832414 | Recurrent hypotension induced by sacubitril/valsartan in cardiomyopathy secondary to Duchenne muscular dystrophy: A case report. | [
"Duchenne muscular dystrophy (DMD), which is caused by a mutation/deletion in the dystrophin gene on the X-chromosome, is the most common type of neuromuscular disorder in pediatrics. Skeletal muscle weakness progressively develops in DMD patients and usually leads to respiratory failure in the early adolescent yea... | [
"<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 disorder",
"DMD",
"DMD",
"DMD",
"progressive muscular dystrophy",
"advanced heart failure"
] | [
"mutation/deletion in the dystrophin gene on the X-chromosome"
] | [
"Skeletal muscle weakness",
"respiratory failure",
"Cardiac muscle",
"cardiomyopathy",
"heart failure",
"cardiac deaths",
"recurrent orthopnea for 6 mo",
"palpitations for 4 mo",
"recurrent episodes of palpitations",
"atrial tachycardia with a heart rate of 201 bpm",
"Hypotension",
"tachyarrhy... | [
"respiratory care",
"confined to a wheelchair",
"diuretics and digoxin",
"Sacubitril/valsartan was added",
"hospitalized",
"administration of sacubitril/valsartan tablets",
"discontinuing sacubitril/valsartan",
"small dose of metoprolol tartrate and digoxin",
"taking sacubitril/valsartan"
] | null | null | [
"symptoms did not resolve",
"could not tolerate even a small dose",
"without palpitation episodes"
] |
duchenne:31825868 | A Case Study With Symbihand: An sEMG-Controlled Electrohydraulic Hand Orthosis for Individuals With Duchenne Muscular Dystrophy. | [
"With recent improvements in healthcare, individuals with Duchenne muscular dystrophy (DMD) have prolonged life expectancy, and it is therefore vital to preserve their independence. Hand function plays a central role in maintaining independence in daily living. This requires sufficient grip force and the ability to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">With recent improvements in healthcare, individuals with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | null | [
"fatiguing",
"minimizing shear forces",
"muscular activation was decreased by more than 40%",
"decrease muscular activation"
] | [
"novel dynamic hand orthosis called SymbiHand",
"electrohydraulic pump for actuation",
"Mechanical work is transported using hydraulic transmission and flexible structures",
"SymbiHand",
"SymbiHand",
"SymbiHand",
"increase grasping force",
"active thumb support",
"assistive"
] | null | null | [
"no substantially added effort",
"low residual grip force",
"without compromising task performance"
] |
duchenne:31812072 | Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49-50 exons in the DMD gene. | [
"Duchenne muscular dystrophy (DMD), an X-linked genetic disorder characterized by progressive muscle weakness and atrophies affecting skeletal and cardiac muscles, is caused by mutations in dystrophin (DMD) gene that spans 79 exons. Here, we generated iPSCs from a Chinese patient with 49-50 exons deletion in DMD ge... | [
"<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)"
] | [
"X-linked genetic disorder",
"mutations in dystrophin (DMD) gene that spans 79 exons",
"49-50 exons deletion in DMD gene",
"identical deletion of 49-50 exons",
"expresses pluripotency markers"
] | [
"progressive muscle weakness",
"atrophies affecting skeletal and cardiac muscles"
] | null | [
"Chinese"
] | null | [
"normal karyotype"
] |
duchenne:31794463 | The Dystrophinopathies. | [
"The dystrophinopathies are among the most common neuromuscular conditions, and they include Duchenne and Becker muscular dystrophies. This article reviews the epidemiology, clinical manifestations, genetic cause, management, and new and emerging therapies for this condition.",
"New studies have highlighted how o... | [
"<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",
"neuromuscular conditions",
"Duchenne",
"Becker muscular dystrophies",
"Duchenne muscular dystrophy",
"dystrophinopathies",
"dystrophinopathy",
"dystrophinopathies"
] | null | [
"improving cardiac health"
] | [
"oral corticosteroids",
"prolonging ambulation",
"scoliosis and subsequent surgical correction",
"gene therapy",
"genetic treatment",
"oral corticosteroids"
] | null | null | null |
duchenne:31793735 | Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease-causing mutations and explains t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"X-linked recessive inheritance muscle dystrophy disease",
"pathogenic variants in the DMD gene",
"insertion of 78 nucleotides between exons 40 and 41 (r.5739_5740insMN602429:r415_492)",
"The insertion sequences were highly homologous to the intron 40 (NG_012232.1:g.1001760_g.1001837)",
"novel deep intronic... | null | null | null | null | [
"fail to found the causative alteration",
"did not perform prenatal DMD gene diagnosis",
"no causative mutations were found neither by MLPA/DHPLC nor gene sequencing"
] |
duchenne:31706698 | Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. | [
"A precise genetic diagnosis of a dystrophinopathy has far-reaching implications for affected boys and their families. We present three boys with DMD single nucleotide variants associated with Becker muscular dystrophy presenting with myalgia, reduced exercise capacity, neurodevelopmental symptoms and elevated crea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A precise genetic diagnosis 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 dystrophinopathy\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"dystrophinopathy",
"Becker muscular dystrophy",
"dystrophinopathy",
"DMD"
] | [
"DMD single nucleotide variants",
"DMD variants",
"AIII:1 a synonymous variant in exon 13 c.1602G>A, p.Lys534Lys",
"BIII:1 an essential splice-site variant in intron 33 c.4674+1G>A",
"CII:1 a missense mutation within the cysteine-rich domain, exon 66 c.9619T>C, p.Cys3207Arg",
"splice-altering effects of v... | [
"myalgia",
"reduced exercise capacity",
"neurodevelopmental symptoms"
] | null | null | [
"elevated creatine kinase",
"mildly to moderately reduced dystrophin levels (17.6 - 36.1% the levels of controls)",
"dystrophin protein levels"
] | null |
duchenne:31672265 | Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature. | [
"Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncated dystrophin pr... | [
"<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",
"Duchenne"
] | [
"mutations in the dystrophin-encoding DMD gene",
"large intragenic deletions",
"frameshift and complete loss of dystrophin expression",
"in-frame deletions in DMD",
"large in-frame 5' deletions (exon 3-23 and exon 3-28) that remove the majority of the N-terminal region, including part of the actin binding a... | [
"progressive muscle weakness"
] | null | null | [
"internally truncated dystrophin proteins"
] | null |
duchenne:31449615 | A case report: X-linked dystrophin gene mutation causing severe isolated dilated cardiomyopathy. | [
"X-linked dilated cardiomyopathy (XLDCM) is a rare but rapidly progressive cardiomyopathy caused by dystrophin gene mutation. Mutations are more often associated with Duchenne and Becker Muscular Dystrophy, which are characterized by skeletal muscle weakness or limb girdle dystrophy. However, patients with isolated... | [
"<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 dilated cardiomyopathy (XLDCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"X-linked dilated cardiomyopathy (XLDCM)",
"rapidly progressive cardiomyopathy",
"Duchenne",
"Becker Muscular Dystrophy",
"isolated XLDCM",
"dilated cardiomyopathy",
"rapidly progressing cardiomyopathy",
"idiopathic cardiomyopathy"
] | [
"dystrophin gene mutation",
"X-linked dystrophin gene mutation [c.31+G>T (IVS1G>T)]",
"X-linked"
] | [
"skeletal muscle weakness",
"limb girdle dystrophy",
"complete dystrophin loss in cardiac muscle",
"isolated myocardial involvement",
"sudden onset dense left-sided weakness",
"facial droop",
"occluded right internal carotid artery extending to the right middle cerebral artery",
"frank pulmonary oedem... | [
"successful endovascular clot retrieval",
"inotropic support and intubation",
"commenced on empirical heart failure therapy",
"successful cardiac transplantation",
"empirical heart failure medications",
"cardiac transplantation"
] | null | null | [
"normal skeletal muscle",
"without overt signs of skeletal myopathy",
"Despite absence of skeletal manifestations",
"normal skeletal muscle dystrophin",
"absent expression in cardiac muscle"
] |
duchenne:31396142 | Preliminary Evidences of Safety and Efficacy of Flavonoids- and Omega 3-Based Compound for Muscular Dystrophies Treatment: A Randomized Double-Blind Placebo Controlled Pilot Clinical Trial. | [
"Background: Nutritional compounds can exert both anti-inflammatory and anti-oxidant effects. Since these events exacerbate the pathophysiology of muscular dystrophies, we investigated nutraceutical supplementation as an adjuvant therapy in dystrophic patients, to low costs and easy route of administration. Moreove... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Background: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nutritional compounds\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"muscular dystrophies",
"dystrophic",
"dystrophic",
"muscular dystrophy",
"Duchenne (DMD), Facioscapulohumeral (FSHD)",
"Limb Girdle Muscular Dystrophy (LGMD)",
"DMD",
"FSHD",
"LGMD",
"LGMD",
"FSHD",
"DMD"
] | null | [
"both anti-inflammatory and anti-oxidant effects",
"recognized muscle inflammation",
"in 6 min walk distance (6MWD",
"in isokinetic knee extension"
] | [
"Nutritional compounds",
"nutraceutical supplementation",
"adjuvant therapy",
"daily oral administration of flavonoids- and omega3-based natural supplement (FLAVOMEGA)",
"continuous FLAVOMEGA, continuous placebo",
"FLAVOMEGA",
"FLAVOMEGA",
"FLAVOMEGA"
] | null | [
"Serum CK levels",
"decreased"
] | [
"not respond to corticosteroid treatment",
"no reported adverse events"
] |
duchenne:31320947 | Recurrent Takotsubo syndrome in a boy with Duchenne muscular dystrophy: A case report. | [
"Takotsubo syndrome is a rare cause of reversible ventricular dysfunction that imitate an acute coronary syndrome. The entity is unusual among pediatric populations and a recurrent episode is extremely rare. We report a case of recurrent takotsubo syndrome in an eight-year-old boy with Duchenne muscular dystrophy (... | [
"<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 Takotsubo syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Takotsubo syndrome",
"recurrent takotsubo syndrome",
"Duchenne muscular dystrophy (DMD)",
"takotsubo syndrome",
"DMD",
"Takotsubo syndrome",
"recurrent episode of takotsubo syndrome",
"inherited muscular dystrophy",
"takotsubo cardiomyopathy"
] | null | [
"reversible ventricular dysfunction",
"acute coronary syndrome",
"chest pain episodes",
"aggravated by a strong emotional stimuli",
"episodes of chest pain",
"ST elevation",
"left ventricle apical ballooning",
"spontaneous resolution of ST elevation",
"normalized apical contraction",
"increasing s... | null | null | null | [
"coronary angiography was normal"
] |
duchenne:31311695 | Risk Factors for Cerebral Infarction in Duchenne Muscular Dystrophy: Review With our 2 Cases. | [
"Although the incidence of cerebral infarction is higher in Duchenne muscular dystrophy (.75 per 100) than in the general population (7.5-11.4 per 100 000), only 18 cases have been reported, and prevention and management guidelines for infarction in this disorder remain lacking.",
"We encountered 2 cases of Duche... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although the incidence 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 cerebral infarction\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"dilated cardiomyopathy (DCM)",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"cerebral infarction",
"infarction",
"cerebral infarction",
"infarction",
"Left ventricular ejection fraction (LVEF) ranged from 10.2% to 42% (median, 20%",
"Detectable cardiac thrombus",
"atrial fibrillation",
"Presence of DCM with low LVEF",
"cerebral infarction"
] | null | null | null | null |
duchenne:31309032 | Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy. | [
"Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of life and are mainly due to atrophy of smooth muscle layers. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"degeneration and atrophy of skeletal, cardiac, and smooth muscles",
"gastrointestinal manifestations",
"atrophy of smooth muscle layers",
"Refractory gastroparesis",
"chronic constipation",
"severe gastric and small bowel dilatation",
"life threatening",
"gigantic stomach"
] | [
"conservative management"
] | null | null | [
"latent period of apparently normal development and function",
"no surgical intervention"
] |
duchenne:31256365 | Sonoelastography of the trunk and lower extremity muscles in a case of Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is a rare genetic disorder typically presenting with muscle weakness and reduced tone of trunk and lower extremities. The sonoelastographic properties of DMD are poorly understood. We describe sonoelastographic characteristics of a patient's trunk and lower extremity musculature. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"rare genetic disorder"
] | [
"muscle weakness",
"reduced tone of trunk and lower extremities",
"and lower extremity musculature",
"increased elasticity by elevated kiloPascals (kPa) across all muscles, except the lumbar erector spinae",
"abnormal sonoelastographic findings",
"pathological mechanical properties",
"abnormal muscle ti... | null | null | null | null |
duchenne:31237663 | [Respiratory failure and neurological impairment in a child with Duchenne muscular dystrophy following minor trauma]. | [
"Fat Embolism Syndrome (FES) is a rare and often lethal condition, associated with trauma or surgery. It is more serious than a typical fat embolism seen after a fracture in a long bone. FES is a triad of symtoms, including respiratory failure, abnormal neurology and petechial bleeding. FES is a diagnosis of exclus... | [
"<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 Fat Embolism Syndrome (FES)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Fat Embolism Syndrome (FES)",
"FES",
"FES",
"FES",
"Duchennes muscular dystrophy",
"FES"
] | null | [
"fat embolism",
"fracture in a long bone",
"symtoms",
"respiratory failure",
"abnormal neurology",
"petechial bleeding",
"respiratory and cardiovasculatory symtoms pass"
] | [
"trauma",
"surgery"
] | null | null | null |
duchenne:31211175 | Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. | [
"In muscular dystrophies, identification of pathogenic pseudoexons involves sequencing of the target gene cDNA derived from muscle mRNA. Here we use a urine \"liquid biopsy,\" droplet digital PCR, and sequencing of PCR products to identify a novel cryptic splice site in DMD intron 67 that causes dystrophinopathy. P... | [
"<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 muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"muscular dystrophies",
"dystrophinopathy"
] | [
"pathogenic pseudoexons",
"novel cryptic splice site in DMD intron 67",
"DMD pseudoexons"
] | null | null | null | [
"absent in serum exRNA"
] | null |
duchenne:31210952 | Pneumothorax in neuromuscular disease associated with lung volume recruitment and mechanical insufflation-exsufflation. | [
"A 25-year-old male with Duchenne muscular dystrophy and a 73-year-old male with motor neurone disease both presented with chest pain and increasing dyspnoea following routine mechanical insufflation-exsufflation or lung volume recruitment, on a background of long-term non-invasive ventilation. In each case, chest ... | [
"<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 25-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"motor neurone disease",
"pneumothorax"
] | null | [
"chest pain",
"increasing dyspnoea",
"pneumothorax fully resolved",
"recurrent pneumothoraces"
] | [
"routine mechanical insufflation-exsufflation or lung volume recruitment",
"long-term non-invasive ventilation",
"insertion of an intercostal catheter",
"discharged home"
] | null | null | [
"no immediate recurrence",
"ceased ongoing prophylactic respiratory therapy"
] |
duchenne:31199961 | The long dystrophin gene product Dp427 modulates retinal function and vascular morphology in response to age and retinal ischemia. | [
"Mutations in dystrophin are the major cause of muscular dystrophies. Continuous muscular degeneration and late stage complications, including cardiomyopathy and respiratory insufficiency, dominate the clinical phenotype. Gene expression and regulation of the dystrophin gene outside of muscular tissue is far more 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 Mutations in dystrophin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"muscular dystrophies",
"Duchenne muscular dystrophy (DMD)",
"oxygen-induced retinopathy (",
"DMD",
"DMD"
] | [
"Mutations in dystrophin",
"Multiple tissue-specific dystrophin gene products",
", Dp427",
"defects in Dp427",
"lacking Dp427 expression",
"mutation in Dp427"
] | [
"Continuous muscular degeneration",
"late stage complications",
"cardiomyopathy",
"respiratory insufficiency",
"secondary complications in non-muscular tissues",
"angiogenesis",
"severe fibrovascular changes in the retina in response to hypoxic stress",
"ageing",
"ischemia",
"retinal function meas... | null | null | null | [
"retinal vascular morphology was normal during development and ageing"
] |
duchenne:31168774 | Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer. | [
"Modulation of dystrophin pre-mRNA splicing is an attractive strategy to ameliorate the severe phenotype of Duchenne muscular dystrophy (DMD), although this requires a better understanding of the mechanism of splicing regulation. Aberrant splicing caused by gene mutations provides a good model to study splicing reg... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Modulation of dystrophin pre-mRNA splicing is an attractive strategy to ameliorate the severe phenotype 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 Du... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"Aberrant splicing",
"gene mutations",
"skipping of in-frame exon 25",
"nonsense mutation (NM_004006.2:c.3340A > T;p.Lys1114*) in the DMD gene",
"c.3340A > T converts an exonic splicing enhancer sequence (ESE) to a silencer element (ESS)",
"c.3340A > T abolishes the binding of the splicing enhancer protei... | null | null | null | [
"hnRNP A1, hnRNP A2"
] | null |
duchenne:31118394 | Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms. | [
"Becker muscular dystrophy (BMD) carriers are at risk to developing cardiac dysfunction. The prevalence of female BMD carriers remains underestimated, and the disease progression varies. We herein report the case of a young female BMD carrier who developed dilated cardiomyopathy (DCM) and heart failure without any ... | [
"<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)",
"BMD",
"BMD",
"dilated cardiomyopathy (DCM)",
"BMD",
"DCM"
] | null | [
"cardiac dysfunction",
"heart failure",
"cardiac dysfunction progressed over a mere two months",
"progressive cardiomyopathy"
] | [
"left ventricular assist device implantation"
] | null | null | [
"without any skeletal muscle signs"
] |
duchenne:31038766 | A successful antibiotic treatment by a new administration route: a case report of a subcutaneous administration of ceftazidime and tobramycin. | [
"When intramuscular or intravenous administrations of parenteral drugs are not possible, the use of other routes (e.g., subcutaneous route) should be considered. We report a patient with Duchenne muscular dystrophy, who was hospitalized for acute pneumonia due to antibiotic-resistant strains of bacteria. Our patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">When \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intramuscular or intravenous administrations of parenteral drugs\n <span style=\"font-size: 0.8em; fo... | [
"Duchenne muscular dystrophy",
"acute pneumonia"
] | null | [
"antibiotic-resistant strains of bacteria"
] | [
"antimicrobial therapy by subcutaneous administration of ceftazidime and tobramycin",
"subcutaneous administration",
"of both ceftazidime and tobramycin"
] | null | null | [
"intramuscular or intravenous administrations of parenteral drugs"
] |
duchenne:30944907 | Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report. | [
"Duchenne muscular Dystrophy (DMD) is a X-linked degenerative disorder affecting skeletal muscles and myocardium caused by mutations in the dystrophin gene, mainly deletions and duplications. Point-mutations account for 13% and stop codon mutations are even more unfrequent. A drug treatment for patients with DMD ca... | [
"<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)",
"degenerative disorder",
"DMD",
"DMD",
"Duchenne",
"Duchenne",
"DMD"
] | [
"X-linked",
"mutations in the dystrophin gene",
"deletions and duplications",
"Point-mutations",
"stop codon mutations",
"stop codon gene mutations",
"stop-codon mutation in exon 53 (c.7792C > T; p.Gln2598Stop)",
"nonsense dystrophin gene mutations"
] | [
"affecting skeletal muscles and myocardium",
"prompt subjective improvement in muscle strength",
"improvement in motor skills, including the possibility of recovering walking, first with support and then unsupported"
] | [
"oral administration",
"treatment with Ataluren at a dosage of 2,250 mg/die",
"resumption of the drug intake",
"ataluren"
] | null | null | [
"discontinued taking the drug for a traumatic femur fracture requiring surgical repair and prolonged rehabilitation",
"hardly recover the ability to walk following a fracture"
] |
duchenne:30938079 | Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients. | [
"Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X-linked recessive mode of inheritance. Patients with DMD are usually characterized by weakness of muscle, usually started since childhood and gradually the patie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"inherited muscular dystrophy",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"Germline mutations in dystrophin (DMD) gene",
"X-linked recessive mode of inheritance",
"novel nonsense mutations",
"truncated DMD protein by formation of a premature stop codon",
"novel nonsense mutations",
"four novel loss-of-function mutations in dystrophin (DMD) gene"
] | [
"weakness of muscle"
] | null | [
"Chinese",
"Chinese",
"Chinese"
] | null | [
"unable to stand and walk"
] |
duchenne:30926200 | First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features. | [
"In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with genetically confirmed Becker muscular dystrophy. His phenotype and g... | [
"<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 African\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"muscle disorders",
"neurological disorders",
"Becker muscular dystrophy",
"muscular dystrophies",
"muscle disorders"
] | null | [
"progressive weakness of the legs",
"difficulty in walking only after a fall"
] | null | [
"African",
"Tanzanian",
"sub-Saharan Africa"
] | null | null |
duchenne:30875388 | The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient. | [
"Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The major symptoms of this condition are walking difficulties, dyspnea caused by progressive skeletal muscle weakness, and cardiomyopathy. Recent advances in ventilator support devices have dramatically decreased mortality ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"muscular dystrophy",
"cardiomyopathy",
"DMD",
"DMD",
"cardiomyopathy",
"DMD",
"cardiomyopathy",
"DMD"
] | [
"exon 44 of the gene encoding dystrophin was deleted"
] | [
"walking difficulties",
"dyspnea",
"progressive skeletal muscle weakness",
"cardiomyopathy",
"respiratory distress",
"heart failure",
"death",
"skeletal muscle is damaged",
"cardiac damage"
] | [
"ventilator support devices",
"mechanical stretching"
] | null | [
"elevation of the intracellular Ca2+ concentration",
"increased the intracellular Ca2+ concentration",
"elevation of the intracellular Ca2+ concentration"
] | null |
duchenne:30796500 | Levosimendan as Rescue Therapy for Acute Heart Failure in a Patient with Duchenne Muscular Dystrophy. | [
"The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The longer survival of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-we... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy-associated cardiomyopathy",
"Duchenne muscular dystrophy"
] | null | [
"severe acute heart failure",
"pneumonia",
"improving heart function"
] | [
"Levosimendan"
] | null | null | null |
duchenne:30796070 | Use of home telemedicine for critical illness rehabilitation: an Indian success story. | [
"One-fifth of healthcare beneficiaries in developed nations get discharged from hospitals to physician supervised skilled nursing care facilities. In low-income and middle-income countries like India, postdischarge skilled nursing facilities are at a very nascent stage and largely underequipped in terms of infrastr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One-fifth of healthcare beneficiaries in developed nations get \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n discharged from hospitals to physician supervi... | [
"Duchenne Muscular Dystrophy"
] | null | null | [
"discharged from hospitals to physician supervised skilled nursing care facilities",
"postdischarge skilled nursing facilities",
"ventilator dependent",
"major surgeries",
"weaned off his ventilator and rehabilitated back to his prehospital state",
"home with visiting nurses and rehabilitation services",
... | [
"India",
"India"
] | null | null |
duchenne:30723005 | Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. | [
"Whole-exome sequencing (WES) can comprehensively detect both pathogenic single nucleotide variants and copy number variants, enabling identification of a coexistence of two or more genetic etiologies. Here we report a family consisting of individuals with Becker muscular dystrophy and rippling muscle disease. 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 Whole-exome sequencing (WES)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Becker muscular dystrophy",
"rippling muscle disease",
"Becker muscular dystrophy"
] | [
"pathogenic single nucleotide variants and copy number variants",
"genetic etiologies",
"exon 45-55 DMD deletions",
"missense CAV3 mutation (NM_033337.2:c.80G>A)",
"c.80G>A mutation",
"coexistence of the CAV3 mutation and the DMD deletion"
] | [
"myalgia",
"muscle stiffness",
"percussion-induced muscle mounding (PIMM)",
"rippling muscle disease",
"muscle stiffness",
"myalgia",
"fatigability",
"muscle rippling",
"PIMM"
] | null | null | [
"elevated serum creatine kinase (CK) level"
] | [
"had normal CK"
] |
duchenne:30703235 | [Two cases of rare diseases with abnormalities of X chromosome]. | [
"To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.",
"Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To explore the clinical features and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n genetic diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"rare diseases",
"Duchenne muscular dystrophy",
"Turner syndrome"
] | [
"X chromosome abnormalities",
"karyotype of 46,X,i(Xq)",
"karyotype of 45,X",
"presence of SRY gene",
"absence of AZF gene",
"abnormalities of X chromosome"
] | [
"short penis",
"short stature",
"cubitus valgus"
] | [
"clinical intervention"
] | null | null | null |
duchenne:30646960 | DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient. | [
"Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this study, we investigated for the first time the Dp71 and Dp71-associated proteins cellular localization and ex... | [
"<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 Cognitive deficit\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Duchenne Muscular Dystrophy",
"Duchenne muscular dystrophy"
] | [
"loss of the short Dp71 dystrophin, the major brain dystrophin isoform",
"alterations in SERCA2"
] | [
"Cognitive deficit",
"cognitive impairment"
] | null | null | [
"reduced Dp71 expression",
"reduction of Dp71 protein",
"elevated cytosolic Ca2+ concentration",
"disruption of the dystrophin proteins and Dp71-associated proteins"
] | null |
duchenne:30545545 | Mosaicism in carrier of Duchenne muscular dystrophy mutation - Implication for prenatal diagnosis. | [
"Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The case report describes a case... | [
"<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 disorder",
"mosaicism",
"DMD",
"familial disorder",
"DMD"
] | [
"mutation in the X-linked dystrophin gene",
"mosaicism",
"2-nucleotide deletion c.2032_2033delCA, p.Q678DfsX41"
] | null | null | null | null | [
"mutation analysis cannot detect any mutation",
"did not reveal any mutation",
"masked from initial analysis by mosaicsism",
"no mutation was detected in probable or obligate carrier"
] |
duchenne:30410390 | Caudal epidural block instead of general anesthesia in an adult with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD), first described in 1834, is an X-linked dystrophinopathy, leading to early onset skeletal muscle weakness. Life expectancy is reduced to early adulthood as a result of involvement of voluntary skeletal muscles with respiratory failure, orthopedic deformities, and associated cardi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"dystrophinopathy",
"DMD",
"DMD"
] | [
"X-linked"
] | [
"early onset skeletal muscle weakness",
"involvement of voluntary skeletal muscles",
"respiratory failure",
"orthopedic deformities",
"cardiomyopathy",
"multisystem involvement",
"significant respiratory muscle involvement"
] | [
"surgical intervention",
"anesthetic care",
"surgical debridement of an ischial pressure sore",
"ultrasound-guided caudal epidural anesthesia",
"instead of general during the surgical procedure",
"regional anesthetic techniques"
] | null | null | null |
duchenne:30326162 | Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. | [
"The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the quality of care, with early corticosteroid use prolonging independent ambula... | [
"<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 (BMD)",
"X-linked dilated cardiomyopathy (XLDCM)",
"DMD",
"BMD",
"XLDCM",
"DMD",
"DMD",
"BMD",
"XLDCM",
"DMD",
"Duchenne cardiomyopathy",
"DMD",
"DMD",
"early cardiomyopathy",
"DMD",
"BMD",
"det... | null | [
"cardiac involvement",
"cardiac involvement",
"cardiac function as improved or stable cardiac versus deteriorated",
"left ventricular ejection fraction (LVEF%) of less than 45%",
"reduced LVEF% (less than 45%)",
"in preserving or improving LVEF%",
"(MD) -0.60% CI -6.67 to 5.47",
"adverse events",
"d... | [
"multidisciplinary management",
"early corticosteroid use",
"independent ambulation",
"non-invasive ventilation",
"perindopril (N = 28) versus placebo (N = 27)",
"three years of therapy",
"had received placebo from the beginning",
"treatment with lisinopril versus losartan",
"after 12 months",
"li... | null | [
"(-3.7%, IQR -10.8 to 1.0"
] | [
"normal heart function at baseline",
"no",
"no other adverse events related to the medication",
"little or no difference in mean change in cardiac function",
"already established on ACEI or ARB therapy",
"no significant improvement in cardiac function",
"no clinically significant adverse events",
"No ... |
duchenne:30303263 | Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis. | [
"The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplications detection. The high frequency of de novo mutations permits to estimate... | [
"<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 Duchenne/Becker muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Duchenne/Becker muscular dystrophy (DMD)"
] | [
"DMD deletions/duplications detection",
"de novo mutations",
"mosaicisms",
"amplicons of cDNAs",
"somatic mosaicism",
"mosaic status"
] | null | [
"conceived a DMD fetus",
"prenatal genetic counseling"
] | null | null | [
"without previous family history of dystrophynopathy",
"Standard MLPA analysis failed to identify mosaicism",
"MLPA doses"
] |
duchenne:30270335 | [Cerebral embolism in Duchenne muscular dystrophy after respiratory tract infection - Report of two cases]. | [
"We report cerebral embolism in 2 patients with Duchenne muscular dystrophy (DMD) after respiratory tract infection. A 31-year-old man (Case 1) was admitted to the hospital because of an upper respiratory tract infection, then suddenly developed left-sided hemiparesis. Transthoracic echocardiography revealed an int... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebral embolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"cerebral embolism",
"respiratory tract infection",
"upper respiratory tract infection",
"left-sided hemiparesis",
"intracardiac thrombus in the left ventricle",
"cardioembolic stroke",
"dysphasia",
"increasing sputum",
"cerebral infarction",
"cerebral infarction",
"embolism",
"mild upper resp... | [
"oral anticoagulation"
] | null | null | [
"no recurrence",
"irrespective of respiratory and cardiac therapy"
] |
duchenne:30217487 | Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution. | [
"Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. To our knowledge, it has never been reported in boys with Duchenne muscular dystrophy (DMD) after the administration of bisphosphonates. We report two patients ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Rhabdomyolysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Rhabdomyolysis",
"dystrophinopathies",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"infections",
"transient rhabdomyolysis",
"dose-dependent side effect of bisphosphonates",
"direct myotoxicity of biphosphonates",
"rhabdomyolysis with myoglobinuria"
] | [
"exercise",
"volatile anesthetics",
"administration of bisphosphonates",
"zoledronate administration",
"bisphosphonates",
"zoledronate"
] | null | [
"myoglobinuria",
"myoglobinuria",
"hypophosphatemia"
] | null |
duchenne:30214127 | Importance of long-term motor function evaluation after prednisolone treatment for Duchenne muscular dystrophy. | [
"[Purpose] Motor function evaluation by physical therapists is considered a valuable tool to assess the progression of muscular dystrophies. Few reports have described long-term motor function assessment during the administration of corticosteroids such as prednisolone (PSL) in these patients. This study examined t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[Purpose] \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Motor function evaluation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"muscular dystrophies",
"Duchenne muscular dystrophy"
] | null | [
"Motor function was conserved or significantly improved",
"perceived improvement"
] | [
"administration of corticosteroids such as prednisolone (PSL)",
"identical PSL dosage regimen",
"increase in PSL dosage",
"PSL",
"increase in dosage",
"PSL",
"initiating PSL treatment",
"PSL"
] | null | null | null |
duchenne:30167630 | Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids. | [
"Cardiac dysfunction is a leading cause of morbidity and mortality in Duchenne muscular dystrophy (DMD). This case highlights the importance of steroids in treating cardiac complications of DMD and the dangers of discontinuing or switching between steroid classes.",
"To recognize the presentation of acute myocard... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac dysfunction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"acute myocardial inflammation",
"dystrophinitis",
"DMD",
"myocarditis",
"dilated cardiomyopathy",
"DMD",
"DMD",
"steroid withdrawal-induced myocarditis",
"cardiomyopathy",
"DMD",
"DMD",
"acute myocarditis",
"DMD cardiomyopathy"
] | null | [
"Cardiac dysfunction",
"cardiac complications",
"myocardial inflammation",
"cardiac function recovery",
"Increased myocardial inflammation, edema, and fibrosis",
"acute-onset chest pain",
"Ischemic changes",
"electrocardiogram",
"Depressed cardiac function",
"potential evidence of inflammation",
... | [
"steroids",
"discontinuing or switching between steroid classes",
"guideline-directed medical therapy",
"steroids",
"hospitalized in the cardiac care unit",
"Switching from deflazacort to underdosed prednisone for 7 days",
"stopping deflazacort abruptly",
"deflazacort was abruptly discontinued and con... | null | [
"elevated cardiac enzymes"
] | [
"without a viral prodrome"
] |
duchenne:30103083 | A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology. | [
"Dystrophin gene defects are the pathogenic molecular basis of Becker muscular dystrophy (BMD), characterised by skeletal myopathy and cardiomyopathy. Because of the broad phenotype spectrum, it was difficult to use the traditional diagnostic method to achieve an early accurate diagnosis of BMD-associated cardiomyo... | [
"<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 gene defects\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Becker muscular dystrophy (BMD)",
"BMD-associated cardiomyopathy",
"BMD-associated cardiomyopathy",
"BMD"
] | [
"Dystrophin gene defects",
"genetic defect",
"novel small in-frame mutation (c.4998_5000 del CAG, p.1667 del Ala) of the dystrophin gene",
"novel dystrophin mutation (p.1667 del Ala)"
] | [
"skeletal myopathy",
"cardiomyopathy",
"heart failure",
"left ventricular free wall demonstrated severe fibrofatty replacement of cardiac myocytes from the epicardium to the endocardium",
"pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle"
] | [
"heart transplant"
] | null | null | null |
duchenne:30069101 | Mutation Location and Cognitive Impairment in Duchenne Muscular Dystrophy. | [
"Cognitive impairment is commonly seen in patients with Duchenne muscular dystrophy (DMD). Few studies have shown a correlation between loss of different isoforms of the DMD gene and cognitive impairment.",
"The objective of the study was to determine whether correlation exists in the location of mutation in DMD ... | [
"<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 Cognitive impairment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"loss of different isoforms of the DMD gene",
"location of mutation in DMD gene or loss of different isoforms",
"isoforms affected",
"deletion",
"deletion in \"hotspot\" regions (exon 43-52)",
"hotspot mutations",
"mutations in other regions",
"cumulative loss of isoforms",
"loss of Dp140pc isoform"... | [
"Cognitive impairment",
"cognitive impairment",
"cognitive impairment",
"mean IQ score of 85.5",
"cumulative Dp427/Dp260/Dp140utr loss",
"Visuomotor functioning was more impaired",
"intellectual impairment",
"Visuomotor functioning"
] | null | [
"Indian"
] | [
"isolated Dp427 loss",
"isolated Dp427 loss"
] | null |
duchenne:30033339 | Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series. | [
"This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15mm angled mouthpieces to relieve tachypnea and provide more time to swallow food safely. In each case weight loss was revers... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case series of 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-... | [
"Duchenne muscular dystrophy"
] | null | [
"relieve tachypnea",
"weight loss was reversed"
] | [
"noninvasive intermittent positive pressure ventilatory support via 15mm angled mouthpieces",
"provide more time to swallow food safely"
] | null | null | null |
duchenne:30009059 | Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy. | [
"We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation. These cases fulfill the clinical criteria for Fat Embolism Syndrome. Early recognition and aggressive supportive therapy with mech... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 pediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne muscular dystrophy",
"Fat Embolism Syndrome",
"Fat Embolism Syndrome",
"Duchenne muscular dystrophy"
] | null | [
"acute neurologic deterioration",
"hypoxic respiratory failure",
"respiratory and neurological symptoms"
] | [
"mechanical ventilation",
"aggressive supportive therapy with mechanical ventilation",
"right ventricular afterload reduction",
"blood transfusion",
"survival"
] | null | null | [
"without any residual effects from the event"
] |
duchenne:30001927 | Ketoacidosis in Duchenne muscular dystrophy: A report on 4 cases. | [
"The longer survival in Duchenne dystrophy can be associated with previously unrecognised medical issues, in particular cardiac and nutritional problems, which provide new challenges in the management of these patients. We describe a series of patients who have DMD presenting with severe acid base abnormalities due... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The longer survival 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 dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Duchenne dystrophy",
"DMD",
"DMD"
] | null | [
"cardiac",
"nutritional problems"
] | [
"intravenous glucose infusion",
"decreased calorific intake"
] | null | [
"severe acid base abnormalities",
"ketoacidosis",
"decreased dietary intake",
"acid-base derangement",
"very severe acid-base derangement"
] | null |
duchenne:29984652 | Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance. | [
"Duchenne muscular dystrophy is a disorder with variable expression caused by framedisrupting mutations in the dystrophin gene. It is characterized by progressive muscle weakness and dilated cardiomyopathy. In-frame dystrophin mutations cause a clinically moderate disorder named Becker muscular dystrophy. Our aim 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"Becker muscular dystrophy",
"Duchenne"
] | [
"framedisrupting mutations in the dystrophin gene",
"In-frame dystrophin mutations",
"Three genetic variants",
"p.Arg891Alafs*160 in the MYBPC3 gene, p.Thr263Met in the KCNJ5 gene",
"p.Ser2437_Ile2554delinsPhe in the DMD gene",
"expected to generate an in-frame deletion of exons 51 and 52 of the dystrophi... | [
"progressive muscle weakness",
"dilated cardiomyopathy",
"psychomotor retardation",
"Asymmetric left ventricular hypertrophy",
"long QT interval",
"Mild muscular weakness"
] | null | null | null | [
"no sign of cardiomyopathy or muscular weakness",
"normal life expectancy",
"absence of myopathic symptoms"
] |
duchenne:29862154 | Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29. | [
"Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper limbs with lef... | [
"<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... | [
"DMD-carriers",
"DMD-carriers",
"cardiac disease",
"DMD-carriers"
] | [
"mutations in the dystrophin gene",
"DMD-carriers",
"deletion of exons 12-29",
"deletions of exons 12-29"
] | [
"clinically in the skeletal muscle, the heart",
"Cardiac involvement",
"muscle manifestations",
"slowly progressive weakness of the lower and upper limbs",
"with left-sided predominance",
"palpitations",
"exertional dyspnoea",
"mildly reduced systolic function",
"slightly enlarged left ventricle",
... | [
"starting steroids",
"ivabradine and lisinopril",
"Steroids"
] | null | [
"Muscle enzymes were repeatedly elevated",
"absence of dystrophin"
] | [
"did not tolerate beta-blockers"
] |
duchenne:29843823 | A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20. | [
"Boys with Duchenne muscular dystrophy (DMD) have DMD gene mutations, with associated loss of the dystrophin protein and progressive muscle degeneration and weakness. Corticosteroids and palliative support are currently the best treatment options. The long-term benefits of recently approved compounds such as etepli... | [
"<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 Boys\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-... | [
"Duchenne muscular dystrophy (DMD)",
"dystrophinopathies",
"DMD",
"spontaneous canine dystrophinopathy"
] | [
"DMD gene mutations",
"dystrophin-deficient",
"frameshift, single nucleotide deletion in canine DMD exon 20, position 27,626,466 (c.2841delT mRNA), resulting in a stop codon six nucleotides downstream",
"novel mutation in the minor DMD mutation hotspot (between exons 2 through 20)",
"DMD gene"
] | [
"progressive muscle degeneration",
"weakness",
"progressive disease akin to that of DMD",
"progressive muscle weakness",
"dysphagia",
"Histopathologic changes characteristic of dystrophinopathy"
] | [
"Corticosteroids",
"palliative support",
"eteplirsen and ataluren",
"genetic therapies"
] | null | [
"loss of the dystrophin protein",
"Dramatically increased serum creatine kinase levels (41,520 U/L; normal range 59-895 U/L)"
] | [
"Dystrophin was absent in the skeletal muscle"
] |
duchenne:29778277 | Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. | [
"Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy.",
"We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pompe disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Pompe disease",
"Becker muscular dystrophy (BMD)",
"BMD"
] | [
"pathogenic mutation and polymorphism variants",
"pseudodeficiency in GAA",
"heterozygosity for a nonsense mutation (c.118C > T, p.Arg40∗)",
"hemizygosity for a nonsense mutation (c.72G > A, p.Trp24∗)",
"heterozygosity for [p.Gly576Ser; p.Glu689Lys] polymorphism variants that indicated pseudodeficiency on a... | [
"clinical similarities to muscular dystrophy",
"fibers were faint and patchy on immunochemistry staining of dystrophin"
] | null | [
"Asian"
] | [
"remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme",
"asymptomatic creatine kinase elevation",
"GAA enzyme activity in both dried blood spots and lymphocytes was low, at 11.7% and 7.7% of normal, respectively",
"amount of dystrophin protein was reduced to 11.8% of normal",
"low activit... | [
"Neither exon deletion nor duplication was detected",
"no glycogen deposits",
"no high acid phosphatase activity",
"despite remarkable reduction in GAA activity"
] |
duchenne:29739182 | Combination of extracorporeal membrane oxygenation and inline hemofiltration for the acute hyperkalemic cardiac arrest in a patient with Duchenne muscular dystrophy following orthopedic surgery -a case report. | [
"Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, hyperkalemic cardiac arrest, and hyperthermia during the perioperative period. Acute onset 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)",
"childhood muscular dystrophy",
"DMD",
"rhabdomyolysis",
"rhabdomyolysis",
"DMD"
] | null | [
"hyperkalemic cardiac arrest",
"hyperthermia",
"Acute onset of hyperkalemic cardiac arrest",
"multiple leg fractures and other trauma",
"car accident",
"acute hyperkalemic cardiac arrest",
"repeated cardiac arrest",
"refractory hyperkalemic cardiac arrest"
] | [
"extracorporeal membrane oxygenation and in-line hemofiltration",
"Combining ECMO and in-line hemofiltration"
] | null | [
"sustained hyperkalemia",
"rhabdomyolysis",
"sustained hyperkalemia",
"hyperkalemia"
] | [
"achieving satisfactory resuscitation",
"refractory to cardiopulmonary resuscitation"
] |
duchenne:29701428 | Anaesthetic Management in a Duchennne Muscle Dystrophy Patient for Treatment of Recurrent Pneumothorax. | [
"Duchenne muscular dystrophy (DMD) is an x linked recessive disorder. Long term prognosis is ominous, with development of respiratory distress and cardiomyopathy in advanced stage of the disease and expected death in the teens-to-mid 20s due to respiratory or cardiac failure. Peri-operative management of this patie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"recurrent pneumothorax",
"DMD",
"DMD",
"malignant hyperthermia"
] | [
"x linked recessive disorder"
] | [
"respiratory distress",
"cardiomyopathy",
"death",
"respiratory or cardiac failure",
"difficult airway anatomy",
"macroglossia",
"limited neck and mandibular mobility)",
"malignant hyperthermia",
"rhabdomyolysis",
"hyperkalemic cardiac arrest",
"dyspnoea starting at 3 days",
"right scapular pa... | [
"halogenated inhalational anaesthetics",
"depolarizing muscle relaxants",
"to a thoracotomy",
"continuous BiPAP",
"Drainage",
"operative treatment",
"Oro-tracheal intubation",
"slight sedation (propofol, without neuromuscular blocks",
"direct laryngoscopy - Cormack 4",
"a bougie and Mccoy blade",
... | null | null | [
"with no signs of tension",
"Despite initial success",
"on the several attempts of clamping",
"No bronchopleural fistula was detected",
"without neuromuscular blockers"
] |
duchenne:29653394 | Generation of Duchenne muscular dystrophy patient-specific induced pluripotent stem cell line lacking exons 45-50 of the dystrophin gene (IITi001-A). | [
"Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyo... | [
"<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)",
"progressive muscle degenerative disease"
] | [
"X-linked",
"mutations in the dystrophin gene",
"deletion mutation of exons 45-50",
"expression of the pluripotent markers (SOX2, NANOG, OCT4)",
"patient-specific dystrophin mutation"
] | [
"genetic identity to the skin biopsy dermal fibroblasts"
] | null | null | null | [
"normal karyotype"
] |
duchenne:29642113 | Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report. | [
"We report the case of a 13-year-old boy with Duchenne muscular dystrophy (DMD) who sustained bilateral femoral neck fractures associated with glucocorticoid-induced osteoporosis. Denosumab therapy for 18 months markedly improved the lumbar bone mineral density and the bone turnover markers. No fractures or complic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 13-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne muscular dystrophy (DMD)",
"glucocorticoid-induced osteoporosis",
"DMD",
"osteoporosis",
"DMD"
] | null | [
"bilateral femoral neck fractures",
"glucocorticoid-induced osteoporosis",
"improved the lumbar bone mineral density and the bone turnover markers"
] | [
"Denosumab therapy for 18 months",
"denosumab treatment"
] | null | null | [
"No fractures or complications"
] |
duchenne:29628849 | Pectoralis blocks for insertion of an implantable cardioverter defibrillator in two patients with Duchenne muscular dystrophy. | [
"Patients with Duchenne muscular dystrophy (DMD) often have systemic manifestations with comorbid involvement of the cardiac and respiratory systems that increase the risk of anesthetic and perioperative morbidity. These patients frequently develop progressive myocardial involvement with cardiomyopathy, depressed c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"systemic manifestations",
"comorbid involvement of the cardiac and respiratory systems",
"perioperative morbidity",
"progressive myocardial involvement",
"cardiomyopathy",
"depressed cardiac function",
"arrhythmias"
] | [
"placement of",
"automatic implantable cardioverter defibrillator (AICD) insertion",
"general anesthesia",
"regional anesthesia",
"AICD insertion",
"unilateral pectoralis and intercostal nerve blocks supplemented with intravenous sedation",
"regional anesthetic technique",
"anesthetic technique",
"g... | null | null | null |
duchenne:29610677 | Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. | [
"Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular d... | [
"<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 Juvenile dermatomyositis (JDM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Juvenile dermatomyositis (JDM)",
"auto-immune muscle disease",
"JDM",
"Laminopathies",
"muscular dystrophies",
"lipodystrophy",
"atypical progeroid syndrome",
"JDM",
"acquired generalized lipodystrophy (AGL)",
"JDM",
"muscular dystrophy",
"concurrent JDM and AGL",
"juvenile dermatomyositis"... | [
"mutations in the lamin genes",
"p.T10I LMNA variant",
"p.T10I LMNA variant",
"LMNA",
"p.T10I"
] | [
"skin manifestations",
"muscle weakness",
"acquired lipodystrophy",
"generalized lipodystrophy",
"bilateral proximal lower extremity muscle weakness",
"subcutaneous fat loss which started in her extremities and progressed to her whole body",
"diabetes",
"low body fat",
"perifascicular atrophy",
"g... | null | null | [
"hypertriglyceridemia",
"low leptin levels"
] | null |
duchenne:29610182 | Unusual Presentations of Dystrophinopathies in Childhood. | [
"X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations requi... | [
"<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 mutations in the dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"inherited neuromuscular disorders",
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"dystrophinopathies",
"Becker muscular dystrophy",
"dystrophinopathy"
] | [
"X-linked recessive mutations in the dystrophin gene",
"dystrophin gene mutations"
] | [
"social communication disorder",
"exertional myalgia",
"rhabdomyolysis",
"severe cerebral palsy",
"cyclical vomiting",
"remained stable over a prolonged period of follow-up",
"milder phenotypes",
"features distinct from the classic Duchenne muscular dystrophy"
] | [
"genetic counseling"
] | null | [
"isolated elevated creatine kinase levels (range: 720-7000 IU/L)"
] | [
"otherwise unexplained transaminase elevations",
"no preceding family history of neuromuscular disease",
"no significant weakness",
"incorrect alternative diagnosis"
] |
duchenne:29581631 | Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. | [
"Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype.",
"We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker... | [
"<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 Nonsense mutations in the dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"severe Duchenne muscular dystrophy",
"severe Duchenne type to a milder Becker muscular dystrophy type",
"muscular dystrophy"
] | [
"Nonsense mutations in the dystrophin gene",
"rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping",
"Exon skipping of exon 29"
] | null | null | null | [
"higher level of functional dystrophin"
] | null |
duchenne:29571762 | Bilateral Cerebral Infarctions and Intracardiac Thrombus in a Young Duchenne Muscular Dystrophy Patient. | [
"A 31-year-old man with Duchenne muscular dystrophy was admitted to our center, having infarctions in bilateral cerebral hemispheres and an occluded right middle cerebral artery. His right middle cerebral artery was spontaneous recanalization on the next day, and thrombus in the left ventricle vanished on the eight... | [
"<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 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy"
] | null | [
"infarctions in bilateral cerebral hemispheres",
"occluded right middle cerebral artery",
"right middle cerebral artery was spontaneous recanalization",
"thrombus in the left ventricle vanished"
] | [
"warfarin"
] | null | null | null |
duchenne:29556034 | Clinical and molecular consequences of exon 78 deletion in DMD gene. | [
"We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 13-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | null | [
"single deletion of exon 78",
"DMD exon 78 deletion",
"loss of reading frame in the dystrophin gene",
"exon 78 deletion",
"absence of 32 bp of exon 78",
"Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids ... | [
"myalgia",
"exertion",
"severe phenotype",
"very mild phenotype"
] | null | null | [
"persistent increase of serum Creatine Kinase (CK)",
"marked reduction of dystrophin expression",
"protein degradation",
"bind DGC complex"
] | null |
duchenne:29552091 | Mechanical thrombectomy in a young stroke patient with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive skeletal muscle myopathy which is caused by mutations in the dystrophin gene. Lack of dystrophin also results to cardiomyopathy, which raises significantly the stroke risk in DMD-patients. However, data about therapeutic opportunities in the acute setting ... | [
"<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 muscle myopathy",
"DMD",
"DMD",
"dilatative cardiomyopathy",
"DMD",
"DMD",
"DMD"
] | [
"X-linked recessive",
"mutations in the dystrophin gene"
] | [
"cardiomyopathy",
"stroke",
"fatal outcome",
"acute ischemic stroke (AIS)",
"wake up stroke",
"severe right-sided hemiparesis",
"aphasia",
"NIHSS=20)",
"only slight early ischemic changes (ASPECT-Score=8)",
"occlusion of left middle cerebral artery (LMCA)",
"complete recanalization was achieved"... | [
"IV thrombolysis",
"successful mechanical thrombectomy (MTE)",
"MTE",
"direct thrombus aspiration (Penumbra System®)",
"general anesthesia",
"propofol, remifentanil and rocuronium",
"MTE",
"IV thrombolysis",
"MTE"
] | null | [
"Lack of dystrophin"
] | null |
duchenne:29417026 | Duchenne muscular dystrophy: Case report and review. | [
"Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal mus... | [
"<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",
"Duchenne muscular dystrophy (DMD)",
"disorder muscular dystrophy",
"DMD"
] | [
"X-linked"
] | [
"progressive muscular weakness",
"proximal muscle weakness",
"calf hypertrophy",
"delay in motor development",
"premature death",
"cardiac or respiratory complications",
"improvements in function, ambulation",
"quality of life",
"life expectancy",
"remarkable clinical and oral manifestations"
] | [
"wheelchair confinement",
"corticosteroid therapy",
"use of intermittent positive pressure ventilation"
] | null | null | null |
duchenne:29390271 | Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report. | [
"Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it is very important to avoid the birth of children with DMD by effective prenatal diagnosis. We identified a de novo DMD gene mutation in a Chinese family, and make a p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"de novo DMD gene mutation",
"DMD gene exon mutation",
"pathogenic mutation in DMD gene",
"c.2767_2767delT [p.Ser923LeufsX26] mutation in DMD gene",
"Heterozygous deletion mutation (T/-) at this locus was observed in the pregnant woman and her mother and younger sister",
"The pathogenic mutation in DMD ge... | [
"severe and fatal symptoms"
] | null | [
"Chinese"
] | null | [
"no DMD gene exon deletion/duplication in all family members",
"negative Y chromosome sex-determining gene",
"no DMD gene exon deletion/duplication",
"no mutations at c.2767 locus"
] |
duchenne:29377139 | Late-onset Becker-type muscular dystrophy in a Border terrier dog. | [
"A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and el... | [
"<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... | [
"neuromuscular disorder",
"myopathy",
"severe non-inflammatory myopathy of a dystrophic type",
"dystrophinopathy",
"Becker muscular dystrophy",
"late-onset Becker-type muscular dystrophy",
"dystrophinopathy",
"Muscular dystrophy"
] | null | [
"progressive stiffness",
"exercise intolerance",
"late onset clinical signs"
] | null | [
"Border terrier",
"Border terrier"
] | [
"Serum creatine kinase activity was mildly elevated",
"80-kDa truncated dystrophin fragment",
"mildly elevated creatine kinase"
] | [
"not be ruled out"
] |
duchenne:29373175 | A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy. | [
"Mutations in the DMD gene lead to Duchenne and Becker muscular dystrophy (DMD/BMD). Missense mutations are rare cause of DMD/BMD. A six-month-old male patient presented with mild generalized muscle weakness, hypotonia, and delayed motor development. Dystrophinopathy was suspected because of highly elevated serum 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 Mutations in the DMD gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Duchenne and Becker muscular dystrophy (DMD/BMD)",
"DMD/BMD",
"Dystrophinopathy",
"BMD"
] | [
"Mutations in the DMD gene",
"Missense mutations",
"deletion of exon 4",
"novel de novo point mutation (c.227A>T, p.Asn76Ile) in the N-terminal actin-binding domain (N-ABD) of dystrophin protein",
"the affected nucleotide lies directly at the 3' ligation site of the MLPA probe",
"c.227A>T to be the sole v... | [
"mild generalized muscle weakness",
"hypotonia",
"delayed motor development"
] | null | null | [
"highly elevated serum creatine kinase level (1497 U/L)"
] | [
"false positive MLPA"
] |
duchenne:29336709 | Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy. | [
"Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations.",
"We present a 5-year-old boy with typical clinical features o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"X-linked autosomal recessive genetic disorder",
"mutations in DMD gene",
"deletions or duplications of DMD exons",
"minor mutations",
"novel mutation was identified as a c.9358_9359insA of DMD gene",
"mutation which was origined from mother, generated a frameshift mutation",
"novel mutation of DMD gene... | [
"typical clinical features"
] | null | null | [
"abnormal synthesis of protein polypeptide chains"
] | null |
duchenne:29305136 | Low-level dystrophin expression attenuating the dystrophinopathy phenotype. | [
"The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The reading frame rule suggests that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; f... | [
"Duchenne muscular dystrophy (DMD)",
"milder Becker muscular dystrophy",
"intermediate muscular dystrophy"
] | [
"DMD mutations causing an out-of-frame transcript",
"mutations causing an in-frame transcript",
"predicted nonsense mutations",
"altered splicing and an in-frame transcript",
"predicted nonsense mutation in exon 42",
"only 6.0-9.8% of DMD transcripts were in-frame, excluding exon 42",
"homozygosity for ... | [
"6-minute walk time of 157% of that of age matched DMD controls",
"amelioration of skeletal muscle weakness"
] | [
"dystrophin-restoring therapies"
] | null | [
"only 3.2% dystrophin protein expression",
"very low levels of DMD exon skipping and dystrophin protein expression"
] | null |
duchenne:29273555 | Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing. | [
"Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequ... | [
"<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 Genomic rearrangements\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD complex rearrangement",
"genomic rearrangement"
] | [
"Genomic rearrangements",
"intragenic deletions and duplications",
"mutation in the DMD gene",
"DMD mutations",
"complex noncontiguous duplication rearrangements",
"inverted duplications",
"shared the same duplication events (Dup-nml-Dup/inv)",
"microhomology and small insertions at the breakpoints"
] | null | null | null | null | null |
duchenne:29246534 | Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation. | [
"Duchenne Muscular Dystrophy (DMD; MIM 310200) is one of the most common and severe type of hereditary muscular dystrophies. The disease is caused by mutations in the dystrophin gene. The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. This disease occurs almost exclusi... | [
"<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; bord... | [
"Duchenne Muscular Dystrophy (DMD",
"MIM 310200)",
"hereditary muscular dystrophies",
"Duchenne",
"Becker muscular dystrophy",
"muscular dystrophy",
"DMD"
] | [
"mutations in the dystrophin gene",
"dystrophin gene",
"X-linked recessive",
"new nonsense mutation that creates abnormal stop codon in the dystrophin gene"
] | [
"muscle weakness",
"gradually muscular weakness",
"inability to standing up and walking",
"Death",
"respiratory infection",
"cardiomyopathy"
] | null | null | null | null |
duchenne:29177627 | Virtual 3D planning of tracheostomy placement and clinical applicability of 3D cannula design: a three-step study. | [
"We aimed to investigate the potential of 3D virtual planning of tracheostomy tube placement and 3D cannula design to prevent tracheostomy complications due to inadequate cannula position.",
"3D models of commercially available cannula were positioned in 3D models of the airway. In study (1), a cohort that underw... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We aimed to investigate the potential 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 3D virtual planning of tracheostomy tube placement\n <span style=... | [
"neuromuscular disease",
"Duchenne muscular dystrophy"
] | null | [
"tracheostomy complications",
"trachea healed",
"abnormal airway anatomy",
"abnormal airway anatomy"
] | [
"3D cannula design",
"3D models of commercially available cannula",
"tracheostomy",
"patient-specific cannula was 3D designed, fabricated, and placed",
"-operative tracheostomy",
"commercially available cannula fits",
"custom-made cannula",
"of the custom-designed cannula",
"Patient-specific cannula... | null | null | [
"inadequate cannula position",
"complications of conventional tracheostomy cannula",
"commercially available cannula cannot be optimally positioned"
] |
duchenne:29157800 | Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome. | [
"Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described resulting r... | [
"<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 Chilaiditi syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Chilaiditi syndrome",
"Chilaiditi syndrome",
"neuromuscular disorders",
"DMD",
"Chilaiditi syndrome",
"Chilaiditi syndrome",
"DMD",
"complicated by Chilaiditi syndrome"
] | null | [
"the colon or other organs are interposed between the diaphragm and liver",
"respiratory or digestive symptoms",
"resulting respiratory or digestive symptoms",
"respiratory distress",
"marked constipation",
"interposition of the transverse colon between the diaphragm and liver",
"The right side of the d... | [
"noninvasive positive-pressure ventilation during the night",
"supine to sitting position",
"relief of constipation",
"usage of the ventilator throughout the day"
] | null | null | [
"Ventilator adjustment did not relieve the respiratory distress",
"not when symptoms were absent"
] |
duchenne:28972564 | Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. | [
"A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characteriza... | [
"<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 broad mutational spectrum in the dystrophin (DMD) gene\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Duchenne/Becker muscular dystrophy (D/BMD)",
"dystrophinopathies",
"DMD",
"D/BMD"
] | [
"broad mutational spectrum in the dystrophin (DMD) gene",
"large deletions/duplications to point mutations",
"aberrant transcript",
"containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene",
"partial exonization of a long interspersed nuclear element (LINE-1), dis... | null | null | null | [
"elevated creatine kinase levels",
"reduced dystrophin labeling"
] | null |
duchenne:28954035 | Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a cas... | [
"<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 disease",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"heterozygous for a 2 to 47 exon deletion mutation in DMD gene",
"two embryos had inherited the maternal DMD gene mutation",
"X-linked disorders"
] | [
"Duchenne muscular dystrophy complications"
] | [
"genetic counseling",
"preimplantation genetic diagnosis",
"genetic counseling",
"preimplantation genetic diagnosis process",
"four cycles of intracytoplasmic sperm injection (ICSI)",
"One blastocyst was transferred and resulted in successful pregnancy",
"The other embryos remain vitrified",
"embryo s... | null | null | [
"embryos were normal"
] |
duchenne:28851391 | Surface EMG signals in very late-stage of Duchenne muscular dystrophy: a case study. | [
"Robotic arm supports aim at improving the quality of life for adults with Duchenne muscular dystrophy (DMD) by augmenting their residual functional abilities. A critical component of robotic arm supports is the control interface, as is it responsible for the human-machine interaction. Our previous studies showed t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Robotic arm supports\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD (Brooke 6)",
"DMD",
"DMD"
] | null | [
"residual functional abilities",
"lost his arm function",
"profound deterioration of the muscles",
"sEMG signals from both Biceps and Triceps muscles",
"maximum signal amplitude 100 times lower compared to sEMG",
"voluntarily modulate the required level of muscle activation during the sub-maximal voluntar... | [
"Robotic arm supports",
"robotic arm supports",
"human-machine interaction",
"robotic arm supports",
"simulations of an elbow orthosis",
"control of elbow movements",
"sEMG",
"robotic arm supports"
] | null | null | [
"low sEMG amplitude and a considerable level of muscle co-activation"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.