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Observations on the responsiveness of human subjects to human growth hormone. Effects of endogenous growth hormone deficiency and myotinic dystrophy.

The effect of human growth hormone (HGH) on the N, P, Na, and K balance, and on the body weight (BW) of three groups of subjects was measured. In group I were nine cases (age 6-69) with HGH deficiency; in group II, eight cases (age 9-79) with normal endogenous HGH; in group III, four cases with myotonic dystrophy (age 45-51). After a 7 day control period, the hormone was administered for 7 days. Each subject was tested with three doses of HGH: dose A, 0.0168 U/kg BW(3/4) per day; dose B, 0.0532 U/kg BW(3/4) per day; dose C, 0.168 U/kg BW(3/4) per day. In group I, the responsiveness to HGH decl…

Влияние регулирования разбрызгивания на нервно-мышечные расстройства и текущую нейромускульную генетическую терапию.

Эукариотические гены содержат некодирующие сегменты, известные как интроны, которые прерывают последовательности кодирования. Таким образом, эукариотическая транскрипция производит прекурсор-прекурсор РНК (до-мРНК), который основывается на точной скрещивании для удаления весьма разнообразных интронов из генома и создания зрелого mRNA, необходимого для поддержания нормальной клеточной активности. Широкая неоднородность нейронов требует сложного регулирования сплетения, особенно альтернативного сплечения, для обеспечения точности генного выражения в нейрогенессе, трансдукции сигналов и синаптиче

Совпадение в аннотации оригинала
Eukaryotic genes contain non-coding segments known as introns, which interrupt coding sequences. Consequently, eukaryotic transcription prod … nal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM), Charcot-Marie-Tooth disease (CMT), myasthenia gravis (MG), and multiple sclerosis (MS). Studying the correlation between splicing defects and neuromuscular disorders is crucial for gaining a more comprehensive understanding of the pathogenesis …

Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases.

Pregnancy and birth in women with neuromuscular conditions has been associated with more rapid disease progression and obstetric complicatio … from maternal hypertension which was more common in limb girdle muscular dystrophy 2A/R1 (35%) and myotonic dystrophy (24%). Patients offered specific practical advice to prospective mothers. Women with neuromuscular conditions have a more complex antenatal and perinatal course than unaffected women. Prenatal counselling, specialist obstetric review and additional …

Newborn screening of neuromuscular diseases.

Neuromuscular diseases represent an heterogenous group of more than 400 diseases, with a very broad phenotypic spectrum. Given their rarity … e muscular dystrophy (9), Pompe disease (8), X-linked adrenoleukodystrophy (5), Krabbe disease (4), myotonic dystrophy type 1 (1), metachromatic leukodystrophy (1). The future of newborn screening for neuromuscular disorders pass through a global technological switch, from a biochemical to a genetic-based approach. The rapid development of therapy also requires the …

Eyelid surgery in ocular myopathies.

OBJECTIVE: To retrospectively analyse surgical outcome and complications in patients with ocular myopathy undergoing ptosis correction and to introduce preoperative prophylactic lower lid elevation in this group. METHODS: The medical records of all ocular myopathy patients who had undergone oculoplastic surgery between June 1995 and May 2006 were obtained. Patients' demographics, surgical details and measurements, and complications were recorded. RESULTS: 29 patients were identified; 21 with chronic progressive external ophthalmoplegia (CPEO), 7 with myotonic dystrophy (MD) and 1 with oculop…

In Vitro Synthesis and RNA Structure Probing of CUG Triplet Repeat RNA.

Aberrant RNA structure plays a central role in the molecular mechanisms guided by repeat RNAs in diseases like myotonic dystrophy (DM), C9orf72-linked amyotrophic lateral sclerosis (ALS) and fragile X tremor/ataxia syndrome (FXTAS). Much knowledge remains to be gained about how these repeat-expanded transcripts are actually folded, especially regarding the properties specific to very long and interrupted repeats. RNA structure can be interrogated by chemical as well as enzymatic probes. These probes usually bind or cleave single-stranded nucleotides, which can subsequently be detected using re…

Maternal genetic disorders and fetal development.

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and … ine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.

Discovery and characterization of a novel CCND1/MRCK gene fusion in mantle cell lymphoma.

The t(11;14) translocation resulting in constitutive cyclin D1 expression is an early event in mantle cell lymphoma (MCL) transformation. Patients with a highly proliferative phenotype produce cyclin D1 transcripts with truncated 3'UTRs that evade miRNA regulation. Here, we report the recurrence of a novel gene fusion in MCL cell lines and MCL patient isolates that consists of the full protein coding region of cyclin D1 (CCND1) and a 3'UTR consisting of sequences from both the CCND1 3'UTR and myotonic dystrophy kinase-related Cdc42-binding kinase's (MRCK) intron one. The resulting CCND1/MRCK m…

Floppy infant syndrome.

Floppiness/hypotonia is a common neurologic symptom in infancy. A variety of neuromuscular disorders and central nervous system (CNS) disorders cause floppy infant syndrome (FIS). CNS disorders are the much more common causes of the syndrome than neuromuscular disorders. On long-term follow up, cerebral palsy and mental retardation turn out to be the 2 most common causes of FIS. This review focuses on neuromuscular causes of FIS. With the advent of molecular diagnosis, a few conditions can be diagnosed by DNA analysis of the peripheral lymphocytes (myotonic dystrophy, spinal muscular atrophy);…

Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients.

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relatives and 26% (50/195) of the non-register relatives had had contact with the clinical genetic services, a significant difference (p<0.02). Relatives from families with muscular dystrophy were significantly more likely to have been in contact with genet…

CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease.

Alternative splicing is an important mechanism for generating transcript and protein diversity. In the brain, alternative splicing is particularly prevalent, and alternative splicing factors are highly enriched. These include the six members of the CUG-BP, Elav-like family (CELF). This review summarizes what is known about the expression of different CELF proteins in the nervous system and the evidence that they are important in neural development and function. The involvement of CELF proteins in the pathogenesis of a number of neurodegenerative disorders, including myotonic dystrophy, spinoce…

RNAi: a potential therapy for the dominantly inherited nucleotide repeat diseases.

Genetic diseases that are accompanied by central nervous system involvement are often fatal. Among these are the autosomal dominant neurogenetic diseases caused by nucleotide repeat expansion. For example, Huntington's disease (HD) and spinal cerebellar ataxia are caused by expansion of a tract of CAGs encoding glutamine. In HD and the other CAG-repeat expansion diseases, the expansion is in the coding region. Myotonic dystrophy is caused by repeat expansions of CUG or CCTG in noncoding regions, and the mutant RNA is disease causing. Treatments for these disorders are limited to symptomatic in…

Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.

Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mut…

Neurodegeneration in Xeroderma Pigmentosum: a trinucleotide repeat mutation analysis.

Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder caused by defects in DNA repair. In some forms, it is clinically and pathologically characterized by neurological involvement and premature neuronal death. This study explores the hypothesis that defects in DNA repair in XP may contribute to neurological involvement by destabilizing trinucleotide repeats during replication causing expansion mutations into disease producing ranges. Trinucleotide repeat instability in each of the genes causing Machado-Joseph Disease, myotonic dystrophy, Kennedy's Disease and Huntington's Disease w…

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.

BACKGROUND: Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological find … % for targeted single-gene analysis, 100% for targeted analysis of D4Z4 repeat array units, 88% for myotonic dystrophy protein kinase (DMPK) repeat expansion analysis, 42% for NGS-neuromuscular panel, and 46% for WES. CONCLUSION: The prevalent types of hereditary myopathies were consistent with those reported locally and internationally. This study highlights the d …

History of international connections of myology in Europe.

Over the past centuries, myology as a basic and clinical science has passed through three major stages of development: the classical period, the modern nosographic stage, and the molecular era. The classical period spans the sixteenth century up to the earlier parts of the twentieth century. During this time, several major muscle diseases were clinically and pathologically characterized, including Duchenne muscular dystrophy (DMD), myotonic dystrophy, and facio-scapulo-humeral dystrophy, by master clinicians such as Duchenne, Erb, Becker, Steinert, Landouzy, Dejerine, Meryon, and others. These…

Sleep and neuromuscular disorders.

Polysomnographic evaluation in the sleep laboratory is recommended for patients with neuromuscular disorders who develop symptoms and sign of sleep-wake abnormality or nocturnal respiratory failure. Nocturnal sleep-related ventilatory alterations may occur in disproportion to the severity of the neuromuscular disorder. Diaphragmatic paralysis occurring in the context of a neuromuscular disorder is often an overlooked complication. Failure to thrive, daytime tiredness, and incapacitating fatigue may be the result of a potentially correctable sleep-related abnormality and not due to relentless p

[General anesthesia with sevoflurane and vecuronium for patients with dystrophia myotonica and progressive muscular dystrophy].

A 9 year old male previously diagnosed as progressive muscular dystrophy whose serum CPK5430IU.l-1 was very high received general anesthesia. Before anesthesia, dantrolene sodium 2 mg.kg-1 was given. Anesthesia was induced with thiamylal 100 mg and vecuronium bromide 3 mg. Anesthesia was maintained with sevoflurane (0.5%) in nitrous oxide (66%) and oxygen (33%). The course of anesthesia was uneventful. The operative time was 80 minutes. At the end of the operation, the patient recovered smoothly from anesthesia. A 46 year old female with dystrophia myotonia also received general anesthesia. Th

Effectiveness of the capability approach in rehabilitation for persons with neuromuscular diseases: A controlled before-after study.

BACKGROUND: Rehabilitation of persons with neuromuscular diseases (NMD) requires a personalised approach that focuses on achieving and maint … NeuroMuscular Diseases (ReCap-NMD) study, 64 adults with facioscapulohumeral muscular dystrophy or myotonic dystrophy type 1 were included in two groups, using a before-after controlled design with 6 months between the measurement moments. The first group received rehabilitation as usual, the second received capability care. This article reports on the primary outc …

Different operationalizations of the capability approach in evaluating rehabilitation for persons with neuromuscular diseases: a mixed-methods study.

PURPOSE: The capability approach (CA) is increasingly used in healthcare, but its use in evaluating interventions remains challenging. Therefore, in the Rehabilitation and Capability care for patients with Neuromuscular diseases (ReCap-NMD) study, we conducted a mixed-methods analysis to evaluate how rehabilitation affects capabilities of persons with facioscapulohumeral muscular dystrophy or myotonic dystrophy type 1. We explored whether different operationalizations of the CA yield different results to draw lessons about its use in evaluating rehabilitation. MATERIALS AND METHODS: We compar…