Acanthamoeba Encephalitis in Patient with Systemic Lupus, India

We report a fatal case of encephalitis caused by Acanthamoeba in a 24-year-old woman from India with systemic lupus erythematosus. Diagnosis was made by identification of amebas in brain sections by immunofluorescence analysis and confirmed by demonstrating Acanthamoeba mitochondrial 16S rRNA gene DNA in brain tissue sections

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. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization

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. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localization studies further demonstrated reduced expression of mutant UNC-45B in muscle combined with abnormal localization away from the A-band towards the Z-disk of the sarcomere. The physiological relevance of these observations was investigated in C. elegans by transgenic expression of conserved UNC-45 missense variants, which showed impaired myosin binding for one and defective muscle function for three. Together, our results demonstrate that UNC-45B impairment manifests as a chaperonopathy with progressive muscle pathology, which discovers the previously unknown conserved role of UNC-45B in myofibrillar organization

Predictive Value of MRI and CT Findings in Childhood Medulloblastoma Studied in Thai Patients

Objective: To evaluate the prognostic value of CT and MRI findings in patients with medulloblastoma. Methods: From 1998 to 2007, the MRI and CT of fourteen patients with medulloblastoma were retrospectively reviewed. The findings of cyst or necrotic portion, composition of calcification, hemorrhage and residual tumor after surgical removal were evaluated. Histopathologic findings were classified as large cell and non-large cell type. Outcomes of the disease were indicated by evidence of leptomeningeal seeding, a recurrence event and survival time after diagnosis. Results: Only the large cell type of medulloblastoma was statistically significant in decreasing survival time. No other MRI or CT findings were statistically significant to predict outcomes of the disease. Conclusion: The histologic type of medulloblastoma is a predictive indicator of the outcome of treatment regardless of imaging findings. However, the limitation of this study due to small sample size was considered

Hemostatic Control for Intractable Bleeding from Advanced Cancer of The Uterine Cervix by Collagen Fleece Coated with Fibrin Glue : A Report of 3 Cases

We report 3 cases of advanced cervical cancer with intractable vaginal bleeding. They had all been initially managed by vaginal packing which had failed on 2 occasions. In all cases, bleeding could be controlled by a collagen fleece coated with fibrin glue (Tacho Comb®) without adverse side effects. Applying a collagen fleece coated with fibrin glue may be an alternative method of bleeding control in selected patients

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. She was born blind with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. Her eyelids were gigantic and tears drained from the orifice between them. Cutaneous neurofibromas were observed all over her body. A novel mutation c.4821delA was identified in NF1 gene, which predicted truncation of neurofibromin (p.Leu1607fs). (C) 2012 Wiley Periodicals, Inc

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. We report a sporadic case of DMRV in a 40-year-old Thai man who presented with slowly progressive distal muscle weakness. Gene analysis revealed a compound heterozygous mutation of the GNE gene including a novel mutation c.1057A>G (p.K353E) and a known mutation c.2086G>A (p.V696M). The latter is the most common mutation in Thai DMRV patients. The muscle pathology was compatible with DMRV except for focal inflammation

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. We report a sporadic case of DMRV in a 40-year-old Thai man who presented with slowly progressive distal muscle weakness. Gene analysis revealed a compound heterozygous mutation of the GNE gene including a novel mutation c.1057A>G (p.K353E) and a known mutation c.2086G>A (p.V696M). The latter is the most common mutation in Thai DMRV patients. The muscle pathology was compatible with DMRV except for focal inflammation

Preliminary Result of Using Intensity Modulated Radiation Therapy (IMRT) as a Primary Treatment for Prostate Cancer at Siriraj Hospital in Thailand: Toxicity and Biochemical Outcomes

Objective: This study is a retrospective study of the outcome and the incidence of the toxicity of using intensity-modulated radiation therapy (IMRT) as the primary treatment for prostate cancer at Siriraj Hospital. Methods: Hospital records and radiotherapy medical records of prostate cancer patients treated with IMRT as the primary treatment between July 2004 and May 2009 at Siriraj Hospital were all reviewed. Seventy-five prostate cancer patients were included in the study. Patient’s biochemical failure was established at the time of prostatic specific antigen progression above the post-treatment nadir value +2 ng/ml according to the Phoenix definition. Acute and late toxicity were assessed and scored according to the Radiotherapy Oncology Group grading system. Results: The median follow up time was 25 months (range 3 - 63 months). The two years overall survival (OS) and freedom from biochemical failure rate (FFBF) were 93.7 and 95.8%, respectively. Five patients (6.6%) developed prostatic specific antigen failure according to the Phoenix definition. The incidences of grade ≥ 2 of acute and late gastrointestinal to xicity were 12% and 2.7%, respectively. The incidences of grade ≥ 2 of acute and late genito-urinary toxicity were 61.3% a nd 41.3%, respectively. Conclusion: This preliminary result of using IMRT as the primary treatment for prostate cancer provides good outcomes. The FFBF and OS are comparable with other studies. The incidences of acute and late gastrointestinal toxicity are acceptable, but the incidences of acute and late genito-urinary toxicity are higher than other studies