muscle hypotonia/fatiga muscular

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Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation.

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We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was

[Sydenham's chorea. A clinical analysis of 55 patients with a prolonged follow-up].

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BACKGROUND Sydenham's chorea is permanently on the rise in developing countries and may suddenly reappear in developed nations. METHODS We studied a prospective series of 55 cases, involving a total of 89 outbreaks with long-term follow-ups. All the cases were considered to be rheumatic from the

Vitamin B12 Deficiency in Infants.

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OBJECTIVE To determine different clinical presentations of vitamin B12 deficiency in infants. METHODS Infants at the age of 1-20 mo admitted to infancy clinic of authors' hospital between January 2011-2013 with various clinical presentations due to vitamin B12 deficiency were included in the study.

Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy.

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Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

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Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD

[Strategy of physiotherapy in dysphagia associated with spinal muscular atrophy type Ib: Case study].

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BACKGROUND Neuromuscular diseases progress to pathologic conditions which reveal structural or functional lesions of the elements forming the motor unit of the body. Typical clinical symptoms include muscle weakness, muscle flaccidity, pareses, and partial or total loss of reflexes. Excessive

Hypocalcaemia and hyponatraemia masquerading the diagnosis of Gitelman syndrome.

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Gitelman syndrome is the most common renal tubulopathy, recently exhibiting a dramatic rise of incidence in Asia.A 50-year-old woman presented with vomiting, fatigue and quadriparesis. Physical examination revealed a positive Trousseau sign , hypotonia and areflexia.Suspecting hypocalcaemia, she was

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

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BACKGROUND The clinical presentation of congenital myasthenic syndromes is similar to many other neuromuscular disorders of infancy, and with 12 known discrete genetic forms of congenital myasthenic syndromes, both the diagnosis and treatment decisions present clinical challenges. METHODS We report

Focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib in metastatic melanoma.

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Therapeutic advances derived from targeted therapy and immune checkpoint inhibitors can improve melanoma prognosis. Since 2015, cobimetinib has been approved in combination with vemurafenib in the first-line treatment for BRAF-mutated melanoma. For NRAS-mutated melanomas, MEK inhibition seems to be

[How should a muscular disease be studied?].

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Muscle diseases are an expanding field, mainly due to the progress in genetics and biochemistry. Evaluation starts with a thorough history of the patient's symptoms and signs. The leading clinical manifestations are weakness, atrophy, myalgia, fatigue, more rarely myotonia and in the child hypotonia

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

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Sepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6-pyruvoyl-tetrahydropterin (6-PTP) to BH(4) in an NADPH-dependent reaction. SR deficiency is a very rare autosomal recessive disorder with normal phenylalanine (Phe) concentration in

Ineffective Homeschooling in a Child with a Learning Disability.

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Charles is a 10-year-old African-American male who presents to the Developmental Behavioral Pediatrics Clinic for evaluation of his learning. His primary care provider (PCP) was concerned that his developmental delays were negatively affecting his ability to engage in his homeschooling curriculum

The emerging role of ricin A-chain immunotoxins in leukemia and lymphoma.

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Since MRD is the major cause for relapses of malignant diseases, strategies utilizing ITs to target tumor cells surviving conventional treatment have attracted scientific and clinical interest. Many different ITs against various blood-borne as well as solid malignancies have demonstrated specific

Neurotoxicology of PCBs and related compounds.

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Polychlorinated biphenyls (PCBs) are a family of 209 chemicals with two linked phenyl rings and variable chlorination. They are clear oils at room temperature. They were produced from the 1930s until banned in the 1970s because of toxicity and evidence of widespread environmental contamination. They

Feeding and swallowing dysfunction in genetic syndromes.

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Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant,

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