journal
MENU ▼
Read by QxMD icon Read
search

Neuromuscular Disorders: NMD

journal
https://www.readbyqxmd.com/read/28284874/corrigendum-to-categorizing-natural-history-trajectories-of-ambulatory-function-measured-by-the-6-minute-walk-distance-in-patients-with-duchenne-muscular-dystrophy-neuromuscular-disorders-26-9-2016-576-583
#1
Eugenio Mercuri, James Edward Signorovitch, Elyse Swallow, Jinlin Song, Susan J Ward
No abstract text is available yet for this article.
March 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28283332/corrigendum-to-challenges-in-pediatric-chronic-inflammatory-demyelinating-polyneuropathy-neuromuscular-disorders-26-12-2016-817-824
#2
Göknur Haliloğlu, Deniz Yüksel, Cağri Mesut Temoçin, Haluk Topaloğlu
No abstract text is available yet for this article.
March 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318817/clinical-and-mutational-characteristics-of-duchenne-muscular-dystrophy-patients-based-on-a-comprehensive-database-in-south-china
#3
Dan-Ni Wang, Zhi-Qiang Wang, Lei Yan, Jin He, Min-Ting Lin, Wan-Jin Chen, Ning Wang
The development of clinical trials for Duchenne muscular dystrophy (DMD) in China faces many challenges due to limited information about epidemiological data, natural history and clinical management. To provide these detailed data, we developed a comprehensive database based on registered DMD patients from South China and analysed their clinical and mutational characteristics. The database included DMD registrants confirmed by clinical presentation, family history, genetic detection, prognostic outcome, and/or muscle biopsy...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28302391/non-uniform-muscle-fat-replacement-along-the-proximodistal-axis-in-duchenne-muscular-dystrophy
#4
M T Hooijmans, E H Niks, J Burakiewicz, C Anastasopoulos, S I van den Berg, E van Zwet, A G Webb, J J G M Verschuuren, H E Kan
The progressive replacement of muscle tissue by fat in Duchenne muscular dystrophy (DMD) has been studied using quantitative MRI between, but not within, individual muscles. We studied fat replacement along the proximodistal muscle axis using the Dixon technique on a 3T MR scanner in 22 DMD patients and 12 healthy controls. Mean fat fractions per muscle per slice for seven lower and upper leg muscles were compared between and within groups assuming a parabolic distribution. Average fat fraction for a small central slice stack and a large coverage slice stack were compared to the value when the stack was shifted one slice (15 mm) up or down...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28259615/resequencing-array-for-gene-variant-detection-in-malignant-hyperthermia-and-butyrylcholinestherase-deficiency
#5
Soledad Levano, Asensio Gonzalez, Martine Singer, Philippe Demougin, Henrik Rüffert, Albert Urwyler, Thierry Girard
Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. Genotyping for known pathogenic variants in these genes is useful to help identify susceptible individuals, and others may exist but remain unknown, because full-length sequence of these genes is, in general, not investigated. To facilitate this task, we developed a resequencing DNA array, the perioperative patient safety (POPS) array, to be able to screen the entire coding sequences of the RyR1, CACNA1S and BCHE genes...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28279570/the-100-meter-timed-test-normative-data-in-healthy-males-and-comparative-pilot-outcome-data-for-use-in-duchenne-muscular-dystrophy-clinical-trials
#6
Lindsay N Alfano, Natalie F Miller, Katherine M Berry, Han Yin, Kimberly E Rolf, Kevin M Flanigan, Jerry R Mendell, Linda P Lowes
Timed walking tests are often used to measure function in boys with Duchenne muscular dystrophy (DMD). Our objective was to evaluate the 100 meter timed test (100m), a fixed distance test of maximal performance, for use in DMD. To this end, we sought to establish normative 100m performance in healthy controls, compare DMD performance to controls, and evaluate the reliability of 100m. Seventy-two boys with DMD (18 steroid-naïve, 54 on steroids) and 599 controls (4-14 years) completed the 100m as speedily as possible on a 25-meter track...
February 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28302390/matching-pairs-difficulty-in-children-with-spinal-muscular-atrophy-type-i
#7
Graziela Jorge Polido, Alessandra Ferreira Barbosa, Carlos Hitoshi Morimoto, Fátima Aparecida Caromano, Francis Meire Favero, Edmar Zanoteli, Umbertina Conti Reed, Mariana Callil Voos
This study aimed to investigate the performance on pair-matching tasks in children with Spinal Muscular Atrophy type I (SMA-I) and the relationship between this performance and motor function, functional independence and quality of life. SMA-I (n = 12; 6.0 ± 2.3 yrs; 9 boys, 3 girls) and control sex-, age-matched children (n = 12; 6.2 ± 2.6 yrs) performed four pair-matching figure, number and letter tasks. The eye tracker detected eye movements. SMA-I children were assessed with CHOP INTEND, Pediatric Evaluation of Disability Inventory, and Pediatric Quality of Life Inventory...
February 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28279569/lifetime-exercise-intolerance-with-lactic-acidosis-as-key-manifestation-of-novel-compound-heterozygous-acad9-mutations-causing-complex-i-deficiency
#8
Bertold Schrank, Benedikt Schoser, Thomas Klopstock, Peter Schneiderat, Rita Horvath, Angela Abicht, Elke Holinski-Feder, Sarunas Augustis
We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). ACAD9 is an assembly factor for the mitochondrial respiratory chain complex I. ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise intolerance, rapid fatigue, and nausea since early childhood. Mild physical workload provoked the occurrence of nausea and vomiting repeatedly...
February 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28268051/distal-myopathy-with-adssl1-mutations-in-korean-patients
#9
Hyung Jun Park, Ha Young Shin, Sungjun Kim, Se Hoon Kim, Yunbeom Lee, Jung Hwan Lee, Ji-Man Hong, Seung Min Kim, Kee Duk Park, Byung-Ok Choi, Ji Hyun Lee, Young-Chul Choi
To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and c.1220T>C mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s...
February 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28262469/diagnosis-of-duchenne-muscular-dystrophy-in-italy-in-the-last-decade-critical-issues-and-areas-for-improvements
#10
Adele D'Amico, Michela Catteruccia, Giovanni Baranello, Luisa Politano, Alessandra Govoni, Stefano Carlo Previtali, Marika Pane, Maria Grazia D'Angelo, Claudio Bruno, Sonia Messina, Federica Ricci, Elena Pegoraro, Antonella Pini, Angela Berardinelli, Ksenjia Gorni, Roberta Battini, Gianluca Vita, Federica Trucco, Marianna Scutifero, Roberta Petillo, Paola D'Ambrosio, Anna Ardissone, Barbara Pasanisi, Giuseppe Vita, Tiziana Mongini, Maurizio Moggio, Giacomo Pietro Comi, Eugenio Mercuri, Enrico Bertini
Despite all the advances in diagnosis and management of Duchenne muscular dystrophy over the past 50 years, the average age at diagnosis in most countries in the world around is still around 4-5 years. This retrospective study investigates the age at diagnosis in Italy in the past 10 years. We report findings from 384 boys who were diagnosed with DMD from 2005 to 2014. The mean age at first medical contact, which raised the suspicion of DMD, was 31 months. The mean age at diagnosis was 41 months. The finding that more frequently brought to suspect a DMD was the incidental finding of consistent elevated creatine kinase serum level detected during routine assessments in children undergoing general anesthesia or with intercurrent illness...
February 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28262468/congenital-myopathy-with-corona-fibres-selective-muscle-atrophy-and-craniosynostosis-associated-with-novel-recessive-mutations-in-scn4a
#11
Hernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, Lili-Naz Hazrati, Michael G Thor, Michael G Hanna, Roope Männikkö, Peter N Ray, Grace Yoon
We describe two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis. The muscle MRI of the younger sibling revealed a selective pattern of atrophy of the gluteus maximus, adductor magnus and soleus muscles. Muscle biopsy of the younger sibling revealed myofibres with internalized nuclei, myofibrillar disarray, and "corona" fibres. Both affected siblings were found to be compound heterozygous for c...
February 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28189480/corrigendum-to-response-to-mitochondrial-neuropathy-affects-peripheral-and-cranial-nerves-and-is-primary-or-secondary-or-both-neuromuscular-disorders-26-8-2016-549
#12
Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Bruno Claudio, Carelli Valerio, Giacomo P Comi, Filosto Massimiliano, Lamperti Costanza, Moggio Maurizio, Mongini Tiziana, Moroni Isabella, Tonin Paola, Toscano Antonio, Siciliano Gabriele
No abstract text is available yet for this article.
February 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28258941/anatomical-and-mesoscopic-characterization-of-the-dystrophic-diaphragm-an-in-vivo-nuclear-magnetic-resonance-imaging-study-in-the-golden-retriever-muscular-dystrophy-dog
#13
J L Thibaud, B Matot, I Barthélémy, Y Fromes, S Blot, P G Carlier
Because respiratory failure remains a major issue in Duchenne Muscular Dystrophy patients, respiratory muscles are a key target of systemic therapies. In the Golden Retriever Muscular Dystrophy (GRMD) dogs, the disease shows strong clinical and histological similarities with the human pathology, making it a valuable model for preclinical therapeutic trials. We report here the first nuclear magnetic resonance (NMR) imaging anatomical study of the diaphragm in GRMD dogs and healthy controls. Both T1- and T2-weighted images of the diaphragm of seven healthy and thirteen GRMD dogs, from 3 to 36 months of age, were acquired on a 3 tesla NMR scanner...
February 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28284873/establishing-a-reference-dataset-for-the-authentication-of-spinal-muscular-atrophy-cell-lines-using-str-profiling-and-digital-pcr
#14
Deborah L Stabley, Jennifer Holbrook, Ashlee W Harris, Kathryn J Swoboda, Thomas O Crawford, Katia Sol-Church, Matthew E R Butchbach
Fibroblasts and lymphoblastoid cell lines (LCLs) derived from individuals with spinal muscular atrophy (SMA) have been and continue to be essential for translational SMA research. Authentication of cell lines helps ensure reproducibility and rigor in biomedical research. This quality control measure identifies mislabeling or cross-contamination of cell lines and prevents misinterpretation of data. Unfortunately, authentication of SMA cell lines used in various studies has not been possible because of a lack of a reference...
February 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28314630/experiences-of-being-parents-of-young-adults-living-with-recessive-limb-girdle-muscular-dystrophy-from-a-salutogenic-perspective
#15
Anna Carin Aho, Sally Hultsjö, Katarina Hjelm
Recessive limb-girdle muscular dystrophies (LGMD2) involve progressive muscle weakness. Parental support is important for young adults living with LGMD2, but no study has been identified focusing on the parents' experiences. The salutogenic perspective concentrates on how daily life is comprehended, managed and found meaningful, i.e. the person's sense of coherence. The aim of this study was to describe, from a salutogenic perspective, experiences of being parents of young adults living with LGMD2. Nineteen participants were included...
February 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28237437/disease-impact-on-general-well-being-and-therapeutic-expectations-of-european-type-ii-and-type-iii-spinal-muscular-atrophy-patients
#16
Françoise Rouault, Vanessa Christie-Brown, Ria Broekgaarden, Nicole Gusset, Doug Henderson, Patryk Marczuk, Inge Schwersenz, Gil Bellis, Christian Cottet
Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient's perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II and Type III SMA patients, the impact of this situation on their quality of life and their expectations regarding clinical development, was carried out by SMA-Europe member organizations in July 2015...
February 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318818/twitch-mouth-pressure-for-detecting-respiratory-muscle-weakness-in-suspicion-of-neuromuscular-disorder
#17
Dante Brasil Santos, Gilbert Desmarais, Line Falaize, Adam Ogna, Sandrine Cognet, Bruno Louis, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Twitch mouth pressure using magnetic stimulation of the phrenic nerves and an automated inspiratory trigger is a noninvasive, non-volitional assessment of diaphragmatic strength. Our aims were to validate this method in patients with suspected neuromuscular disease, to determine the best inspiratory-trigger pressure threshold, and to evaluate whether twitch mouth pressure decreased the overdiagnosis of muscle weakness frequently observed with noninvasive volitional tests. Maximal inspiratory pressure, sniff nasal pressure, and twitch mouth pressure were measured in 112 patients with restrictive disease and suspected neuromuscular disorder...
February 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28238572/seronegative-myasthenia-gravis-associated-with-malignant-thymoma
#18
Jason Richards, James F Howard
Myasthenia gravis (MG) is generally caused by antibodies directed against the neuromuscular junction, including antibodies against the postsynaptic nicotinic acetylcholine receptor (AChR). Pathologic abnormalities of the thymus gland, including thymoma, are associated with MG. We report a 56-year-old woman who presented with double vision. Single fiber EMG confirmed myasthenia gravis. AChR, striational muscle and MuSK antibodies were absent in the serum. Chest CT demonstrated a malignant thymoma. We report the first case of seronegative myasthenia gravis associated with malignant thymoma...
February 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28258940/low-bone-mineral-density-and-fractures-are-highly-prevalent-in-pediatric-patients-with-spinal-muscular-atrophy-regardless-of-disease-severity
#19
Halley M Wasserman, Lindsey N Hornung, Peggy J Stenger, Meilan M Rutter, Brenda L Wong, Irina Rybalsky, Jane C Khoury, Heidi J Kalkwarf
Patients with Spinal Muscular Atrophy (SMA) are at risk for poor bone health. The prevalence of fractures, low areal bone mineral density (aBMD; Z-score ≤-2.0) of the lateral distal femur and of osteoporosis by SMA subtype is not known. We aimed to describe the natural history of bone health in patients with SMA prior to bisphosphonate treatment. We reviewed data from 85 eligible patients with SMA ages 12 months to 18 years, seen at a single institution between January 2005 and July 2016. Fracture history was reported at annual clinic visits...
February 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28256306/clinical-follow-up-of-pregnancy-in-myasthenia-gravis-patients
#20
Renata D Ducci, Paulo J Lorenzoni, Claudia S K Kay, Lineu C Werneck, Rosana H Scola
This study aimed to analyze the outcome and impact of pregnancy in women with myasthenia gravis (MG). Obstetric and clinical data were retrospectively analyzed before, during and after pregnancy. Predictors of outcome were studied. We included 35 pregnancies from 21 MG patients. In the course of MG symptoms in 30 pregnancies with live births, 50% deteriorated (mainly during the second trimester, p = 0.028), 30% improved, and 20% remained unchanged. The deterioration group had more frequent abnormal repetitive nerve stimulation (RNS) (p = 0...
February 1, 2017: Neuromuscular Disorders: NMD
journal
journal
30818
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"