Case report: Muscle involvement in a Chinese patient with -related disorder.

The gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in -related disorders.

Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature.

Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presence of both antibodies in the serum of patients with myasthenia gravis has been rarely reported. Case description: A 9-year-old girl was admitted to our hospital with the chief complaints of reduced facial expression for 3 months and unclear speech and choking from drinking water for 2 months.

Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study.

Purpose: To investigate the characteristics of respiratory involvement in Chinese paediatric neuromuscular disease (NMD) at early stage and to explore convenient monitoring methods.

Materials And Methods: Children with NMD (age < 18) diagnosed at a multidisciplinary joint NMD clinic at Peking University First Hospital from January 2016 to April 2021 were included. Overnight polysomnography (PSG) and pulmonary function test (PFT) data were analysed, and the characteristics of four groups: congenital muscular dystrophy (CMD), congenital myopathy, spinal muscular atrophy, and Duchenne muscular dystrophy (DMD) were compared.

Structurally Diverse Indole Alkaloids with Vasorelaxant Activity from .

Six new structurally diverse indole alkaloids, melohemsines J-M (-), 11-hydroxy-Δ-vincamine (), and 11-hydroxy-16--Δ-vincamine (), and 15 known alkaloids were isolated from the leaves and twigs of Diels. These new compounds and their absolute configurations were determined through spectroscopic data analyses, X-ray diffraction, and computational methods. Melohemsine J () is the first example of a melodinus-type alkaloid possessing a 6/6/5/5/6/5 hexacyclic skeleton and containing a tetrahydrofuro[2,3-]pyridine-2(3)-one unit.

Hunterines A-C, Three Unusual Monoterpenoid Indole Alkaloids from .

Three new monoterpenoid indole alkaloids (MIAs), hunterines A-C (-), were isolated from Compound possesses a unique skeleton with an unprecedented azabicyclo[4.3.1]decane ring system.

[Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia].

Objective: To summarize the etiology and clinical characteristics of children with myopathic elevated creatine kinase (CK) levels. The degrees of elevated CK as well as lactic dehydrogenase (LDH) and aspartate aminotransferase (AST) levels in different myopathy were analyzed.

Methods: The clinical data of 235 cases characterized as myopathic hyper-CK-emia from January 2004 to December 2011 were collected and analyzed.

[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].

Objective: Periodic paralysis (PP) is one type of skeletal muscle channelopathies characterized by episodic attacks of weakness. It is usually classified into hyperkalemic periodic paralysis (HyperPP), hypokalemic periodic paralysis (HypoPP) and normokalemic periodic paralysis (NormoPP) based on the blood potassium levels. HypoPP is the most common type of these three and NormoPP is the rarest one.

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Unlabelled: Niemann-Pick disease type C (NP-C), caused by mutations of either NPC1 or NPC2 gene, is an inherited lysosomal lipid storage disorder that is difficult to be diagnosed and treated. NP-C is rarely reported in China and so far very few literatures are available for Chinese clinical workers. To better characterize this disease in China and improve genetic counseling, mutational analyses of NPC1 gene were carried out in 6 unrelated Chinese patients.