Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness.

Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies.

Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review.

Background: Muscle biopsy facilitates morphologic, biochemical, and ultrastructural analysis of muscle for the purpose of making definitive neuromuscular diagnosis. However, muscle biopsy is an expensive, invasive, time-consuming, and resource-dependent procedure. The need for general anesthesia in children also increases the risks associated with this procedure.

High Carbonic Anhydrase-9 Expression Identifies a Subset of 1p/19q Co-Deletion and Favorable Prognosis in Oligodendroglioma.

Objective: To investigate the relationship between 3 hypoxic markers, carbonic anhydrase-9 (CA-9), hypoxia-inducible factor (HIF)-1α, and HIF-2α and the traditional genetic markers, deletions of chromosomes 1p and 19q and Isocitrate dehydrogenase 1 (IDH1) R132H mutation in oligodendrogliomas.

Methods: Thirty-one oligodendrogliomas (27 World Health Organization Grade [WHO] II and 4 WHO Grade III) were processed into tissue microarray. Fluorescence in situ hybridization was exploited to detect chromosome deletion, whereas immunohistochemistry was performed to assess IDH1R132H mutation, CA-9, HIF-1α, and HIF-2α expression.

Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber.

Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare type of congenital myopathy. It is characterized by early onset of symptoms, mild proximal muscle weakness, hyporeflexia or areflexia, normal serum creatine kinase (CK) levels and myopathic electromyography finding, uniform type 1 fibers, and nonprogression. We report a 2-year-old boy who presented with congenital hypotonia, breathing and feeding difficulty, myopathic facies, proximal muscle weakness, ptosis, total external ophthalmoplegia and delayed motor developmental milestones.

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.

Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features of DMRV are rimmed vacuoles on muscle biopsy and tubulofilamentous inclusion in ultrastructural study. Presence of inflammation in DMRV is unusual.

Diagnostic performance of advanced MRI in differentiating high-grade from low-grade gliomas in a setting of routine service.

Objective: To evaluate the usefulness of advanced MRI techniques in differentiating high-grade (HGG) from low-grade gliomas (LGG).

Material And Method: Sixty-four patients with suspected gliomas were prospectively evaluated by conventional and advanced MRI studies including MR spectroscopy (MRS), diffusion tensor imagining (DTI), and dynamic susceptibility contrast (DSC) MRI. The parametric measurements of metabolic profile, cerebral blood volume, flow (CBV, CBF), apparent diffusion coefficient (ADC), fractional anisotropy, and their ratios by internal normalization were analyzed to differentiate LGG from HGG.

Diagnostic performance of perfusion MRI in differentiating low-grade and high-grade gliomas: advanced MRI in glioma, A Siriraj project.

Background: To determine the usefulness of the perfusion MRI technique at Siriraj Hospital for differentiating between high- and low-grade gliomas by using pathological results as the gold standard.

Material And Method: The authors prospectively investigated 64 consecutive patients who were suspected as cerebral glioma from prior conventional imaging. Cerebral perfusion study was achieved during the first pass of a bolus of gadolinium-based contrast agent.

Value of diffusion tensor imaging in differentiating high-grade from low-grade gliomas.

Objective: To determine the usefulness of diffusion tensor imaging (DTI) in differentiating high-grade glioma (HGG) from low-grade glioma (LGG).

Material And Method: Patients with cerebral gliomas underwent conventional MRI and DTI before surgery. All proven pathologies were classified into two groups, i.

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation.

A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected.

Primary muscle diseases in Thammasat University Hospital: muscle biopsy study of 12 cases.

We reviewed retrospectively 12 muscle biopsies of patients who were clinically diagnosed with a primary muscle diseases from the clinical data base of Thammasat University Hospital from January 2005 to January 2007. Most patients were male and had median age of 30.5 years (range 14 to 56).

Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.

Reported here is a novel presentation of late onset glutaric aciduria type 2 in two Thai siblings. A 9-year-old boy presented with gradual onset of proximal muscle weakness for 6 weeks. The initial diagnosis was postviral myositis, and then polymyositis.

Evaluation of an in-house immunoperoxidase staining assay for histodiagnosis of human pythiosis.

Pythiosis, a life-threatening infectious disease of humans and animals in tropical and subtropical countries, is caused by the fungus-like organism Pythium insidiosum. As diagnosis of pythiosis is difficult, delayed diagnosis of pythiosis leads to poor prognosis. We developed an immunoperoxidase staining assay using rabbit anti-P.

Novel DYSF mutations in Thai patients with distal myopathy.

Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four MM and one DMAT patients.

Diagnostic accuracy of perfusion CT in differentiating brain abscess from necrotic tumor.

Objective: To evaluate the diagnostic accuracy of perfusion computed tomography (CTP) in differentiating between brain abscess and necrotic tumor.

Material And Method: Prospective study was performed in patients suspected of a space taking lesion in the brain. CTP was done at the suspected levels and post-processing measurement of cerebral blood volume (CBV), cerebral blood flow (CBF), mean transit time (MTT), and permeability surface index (PS) were evaluated at ring enhanced area, central non-enhanced area, edema and contralateral normal brain.

Myofibrillar myopathy with limb-girdle phenotype in a Thai patient.

Myofibrillar myopathy (MFM) encompasses a genetically and clinically heterogeneous group of inherited or sporadic skeletal muscle disorders characterized pathologically by the presence of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins especially Z-disk related proteins. Patients with MFM initially present with muscle weakness and commonly developed cardiomypathy in the advanced stage. To date, mutations of genes encoding Z-disk proteins or proteins maintaining myofibrillar integrity including ZASP, MYOT, DES, FLNC and CRYAB underlie MFM.

A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive, multisystem disorder, which is clinically defined by ptosis, ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by mutations in the nuclear gene, endothelial cell growth factor 1 (ECGF1), encoding thymidine phosphorylase (TP). ECGF1 mutations cause severe loss of TP activity, abnormal accumulations of thymidine and deoxyuridine in plasma, and alterations of mitochondrial DNA.

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.

Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.

Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.

Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypotonia since birth or in early life. It is heterogeneous and can be caused by various central nervous system disorders, neuromuscular diseases and genetic disorders. X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy morphologically characterized by the presence of centrally placed nuclei in numerous muscle fibers without any other particular pathological abnormalities.

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.

We performed an observational prospective analysis to study the clinical characteristics as well as a molecular genetic analysis of 17 members of a Thai family who had visual loss and/or muscle weakness. Their blood mitochondrial DNA were examined for the presence of the G11778A Leber's hereditary optic neuropathy (LHON) mutation. Facioscapulohumeral muscular dystrophy (FSHD) DNA analysis was performed in four members who had visual loss.

Primary extraskeletal osteosarcoma in the pineal region. Case report.

Primary extraskeletal osteosarcoma occurring in the brain parenchyma is distinctly uncommon, with only five cases having been reported. The authors describe the case of a 45-year-old man who presented with progressive headache and diplopia. Computerized tomography scanning and magnetic resonance imaging results revealed a pineal region tumor with obstructive hydrocephalus.