megalencephaly/asthenia

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Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.

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We report 27 children, aged 14 months to 9 years, who had megalencephaly, hypotonia, proximal muscle weakness, speech and motor delay, and increased intracellular lipid (myoliposis) in needle muscle biopsy specimens. The patients had many features of the Ruvalcaba-Myhre-Smith syndrome, and in 17

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

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The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had

Supraorbital Keyhole Microsurgical Fenestration of Symptomatic Temporal Arachnoid Cysts in Children: Advantages and Limitations.

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OBJECTIVE To investigate the impact of endoscope-assisted microsurgical fenestration on temporal arachnoid cysts, and to determine the advantages and limitations of the technique. METHODS Twenty-five children with symptomatic temporal arachnoid cysts were operated via eyebrow supraorbital keyhole

Intracerebral arachnoid cyst treated with ommaya reservoir implantation in a patient younger than two years.

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Intracranial arachnoid cysts are rare cystic-appearing intracranial masses. In rarer cases, the arachnoid cysts originate from brain parenchyma, which is defined as intracerebral arachnoid cyst. Here, we present a patient younger than 2 years with massive intracranial arachnoid cysts (one of which

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

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Canavan disease (OMIM 271900) is an autosomal recessive lethal neurodegenerative disorder characterized by spongy degeneration of the brain. A highly consanguineous Pakistani family with Canavan disease was enrolled on the basis of diagnosis. All the affected individuals have mental retardation,

Presenting symptoms of pediatric brain tumors diagnosed in the emergency department.

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OBJECTIVE The primary objective of this study is to categorize the symptoms associated with brain tumors as diagnosed in the emergency department (ED). The secondary objective is to detail the specific characteristics of these headaches via a subgroup analysis. METHODS A retrospective chart review

Energy metabolism is compromised in skeletal muscle of rats chronically-treated with glutaric acid.

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Glutaric acidemia type I (GA I) (GA I, McKusick 23167; OMIM # 231670) is an autosomal recessive metabolic disorder caused by glutaryl-CoA dehydrogenase deficiency (EC 1.3.99.7). Clinically, the disease is characterized by macrocephaly, hypotonia, dystonia and diskinesia. Since the pathophysiology of

Nongalenic cerebral arteriovenous malformations in neonates and infants. Review of 26 consecutive cases (1982-1992).

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We present 26 consecutive cases of nongalenic pial arteriovenous malformations (PAVMs) diagnosed in the neonatal period or in infancy. No diagnosis was made antenatally. Presenting symptoms in neonates were systemic cardiac manifestations (54%), seizures (31%), and hemorrhages (15%). In infants,

[Neurosurgical aspects in achondroplasia: evaluation and treatment].

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Achondroplasia is the most common genetic disorder associated with bone dysplasia. The mode of inheritance is autosomal dominance, while most cases appear to represent a new mutation. Achondroplastic patients suffer from dwarfism, and from typical features of the head and limbs (rhizomelia,

COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.

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OBJECTIVE COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2

Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

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BACKGROUND Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. OI patients of autosomal recessive inheritance are extremely rare, of which OI type XIII is attributable to mutation in BMP1 gene. METHODS Here, we detect the pathogenic

Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation.

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Alexander disease (AxD) is pathologically characterized by the presence of Rosenthal fibers (RF), which are made up of GFAP, αB-crystallin and heat shock protein 27, in the cytoplasm of perivascular and subpial astrocyte endfeet. Since GFAP mutation has been confirmed in reported cases of AxD,

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.

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MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 ~ 92 cluster) contributes to the pathogenesis of a variety of human diseases,

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

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Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. However, a definitive diagnosis remains difficult

Presentation of childhood CNS tumours: a systematic review and meta-analysis.

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BACKGROUND Suspicion of a CNS tumour is classically raised by symptoms of raised intracranial pressure, focal deficits (including seizures), or papilloedema. Development of guidelines is needed for the identification and referral of children who might have a CNS tumour. We did a systematic

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