muscular atrophy/feber

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[Fever, erythema and muscular atrophy (with abnormal Q wave and congestive heart failure: dermatomyositis (with myocarditis)].

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[Coverage rate and adverse reactions of National Immunization Program vaccines in children with spinal muscular atrophy: a cross-sectional retrospective cohort study].

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Objective: To investigate the coverage rate and the adverse reactions of National Immunization Program vaccines in children with spinal muscular atrophy (SMA). Methods: A cross-sectional retrospective cohort study was carried out from July 2016 to June 2019, 192 children (116 boys and

[Malignant hyperthermia. A case report (author's transl)].

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An exceptionally serious case of malignant hyperthermia in a 17 year old male is presented. A detailed description of the case is given concerning symptomatology, course, laboratory data and morphologic alterations. Our patient died after 7 weeks of intensive care due to therapy resistant septicemia

Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis.

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Spinal muscular atrophy (SMA) is a neuromuscular disorder classified into four types based on the age of onset of the disease. Early onset is correlated with a higher mortality rate, mainly due to respiratory complications. Valproic acid (VPA) is a histone deacetylase (HDAC) inhibitor

Hydrops amnii in sheep associated with hydranencephaly and arthrogryposis with wesselsbron disease and rift valley fever viruses as aetiological agents.

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During the 1974/75 lambing season numerous reports were received from various parts of the Republic of South Africa and South West Africa of severe abdominal distension in ewes after vaccination with the attenuated Rift Valley fever and/or attenuated Wesselsbron disease vaccine. The ewes were

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

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Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 SMA. This randomised,

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials.

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Treatment with nusinersen has demonstrated significant and clinically meaningful benefits in clinical trials in infants and children with spinal muscular atrophy (SMA).The objective of this analysis was to characterize the safety of nusinersen across the

An obscure inherited neuropathy characterized by pain and weakness.

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Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular

[Neurological CPC.57. An 80-year-old woman with four years history of muscle atrophy involving lower extremities predominantly on the right side].

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We report an 80-year-old woman with progressive muscular atrophy predominantly involving her right lower extremity. She was well until 1992 (75 years of age) when she noted an onset of weakness in her right leg which had got progressively worse. She was admitted to our service in July 1994. On

[Anesthesia in myotonia].

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Myotonia is defined as a persistent contraction of skeletal muscles after their stimulation. This contracture is not prevented or relieved by regional anaesthesia or muscle relaxants. The sensitivity to non-depolarizing muscle relaxants is usually normal. Suxamethonium, neostigmine, hypothermia, a

[An unusual cause of failure of weaning from mechanical ventilation in an infant].

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The weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor

[Clinical features of the peripheral nerve involvement in necrotizing angitis--characteristics in polyarteritis nodosa and allergic granulomatous angitis].

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Thirteen patients with peripheral neuropathy caused by necrotizing vasculitis were clinico-pathologically analyzed. These patients consisted of nine classical periarteritis nodosa (PN), four allergic granulomatous angitis (Churg-Strauss syndrome, AGA). All of them were proven to have a necrotizing

Rescue of four pediatric patients with severe influenza A (H3N2) in Weifang, China.

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In this report, we summarize our experience of rescuing four children with severe type A H3N2 influenza from January to February 2017 in Weifang People's Hospital, Shandong Province, China for reference in clinical treatment. Two boys and two girls, ranging in age from 3 months to 6 years, with

[Anesthetic management of a patient with congenital myopathy complicated with severely impaired pulmonary function].

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A 17-year-old man, who had received a diagnosis of congenital myopathy, was scheduled for superficial temporal artery to middle cerebral artery anastomosis procedure. Preoperative respiratory examinations showed the breathing capacity of 450 ml because of a scoilosis, deformity of a thorax and

Mutations in apoptosis genes: a pathogenetic factor for human disease.

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Cell death by apoptosis is exerted by the coordinated action of many different gene products. Mutations in some of them, acting at different levels in the apoptosis process, have been identified as cause or contributing factor for human diseases. Defects in the transmembrane tumor necrosis factor

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