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[Nipah virus infections]

Kitsutani P, Ohta M

Nippon Rinsho, 2005 Dec;63(12):2143-53.
PMID: 16363687

Nipah virus (NiV) is a zoonotic paramyxovirus that was first recognized in 1999 as the causative agent of outbreaks of human encephalitis in Malaysia and Singapore, in association with severe respiratory and neurological disease in pigs. Since then, outbreaks of NiV encephalitis have also occurred in Bangladesh during 2001-2004, but without an association to infected swine or other animals. Although NiV infections typically result in acute encephalitis with high mortality, other clinical manifestations, including asymptomatic infection, relapsed encephalitis, and pulmonary disease, have been observed. The article will summarize the virology, epidemiology, clinical features, treatment, and control and prevention of NiV infections in humans.
Fulltext PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, et al.

Epilepsia Open, 2018 Dec;3(4):495-502.
PMID: 30525118 DOI: 10.1002/epi4.12272

Objective: Vitamin B6-dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1,PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6-dependent epilepsies. Our objective was to further delineate the phenotype of PLPBP mutation.
Methods: We identified 4 unrelated patients harboring a total of 4 variants in PLPBP, including 3 novel variants, in a cohort of 700 patients with developmental and epileptic encephalopathies. Clinical information in each case was collected.
Results: Each patient had a different clinical course of epilepsy, with seizure onset from the first day of life to 3 months of age. Generalized tonic-clonic seizures were commonly noted. Myoclonic seizures or focal seizures were also observed in 2 patients. Interictal electroencephalography showed variable findings, such as suppression burst, focal or multifocal discharges, and diffuse slow activity. Unlike previous reports, all the patients had some degree of intellectual disability, although some of them had received early treatment with vitamin B6, suggesting that different mutation types influence the severity and outcome of the seizures.
Significance: PLPBP variants should be regarded as among the causative genes of developmental and epileptic encephalopathy, even when it occurs after the neonatal period. Early diagnosis and proper treatment with pyridoxine or pyridoxal phosphate is essential to improve the neurologic prognosis in neonates or young children with poorly controlled seizures.
Detection of copy number variations in epilepsy using exome data

Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, et al.

Clin Genet, 2018 03;93(3):577-587.
PMID: 28940419 DOI: 10.1111/cge.13144

Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole-exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants in known epilepsy-associated genes to further validate CNVs using 2 different CNV detection tools using WES data. We confirmed 18 pathogenic CNVs, and 2 deletions and 2 duplications at chr15q11.2 of clinically unknown significance. Of note, we were able to identify small CNVs less than 10 kb in size, which might be difficult to detect by conventional microarray. We revealed 2 cases with pathogenic CNVs that one of the 2 CNV detection tools failed to find, suggesting that using different CNV tools is recommended to increase diagnostic yield. Considering a relatively high discovery rate of CNVs (18 out of 168 families, 10.7%) and successful detection of CNV with <10 kb in size, CNV detection by WES may be able to surrogate, or at least complement, conventional microarray analysis.
Bariatric/Metabolic Surgery in the Asia-Pacific Region: APMBSS 2018 Survey

Ohta M, Seki Y, Wong SK, Wang C, Huang CK, Aly A, et al.

Obes Surg, 2019 02;29(2):534-541.
PMID: 30306499 DOI: 10.1007/s11695-018-3539-7

INTRODUCTION: The Asia-Pacific Metabolic and Bariatric Surgery Society (APMBSS) held its congress in Tokyo at the end of March, 2018, and representatives from Asia-Pacific countries presented the current status of bariatric/metabolic surgery in the "National Reports" session. The data are summarized here to show the current status and problems in the Asia-Pacific region in 2017.
METHODS: A questionnaire including data of 2016 and 2017 and consisting of eight general questions was prepared and sent to representatives in 18 Asia-Pacific countries by e-mail before the congress. After the congress, the data were analyzed and summarized.
RESULTS: Seventeen of 18 countries responded to the survey. The frequency of obesity (BMI ≥ 30) in the 4 Gulf countries was > 30%, much higher than that in the other countries. In total, 1640 surgeons and 869 institutions were engaging in bariatric/metabolic surgery. In many East and Southeast Asian countries, the indication for bariatric surgery was BMI ≥ 35 or ≥ 37, whereas in many Gulf countries and Australia, it was BMI ≥ 40 or ≥ 35 with obesity-related disease. Ten of the 17 countries (58.8%) but only one of the 5 Southeast Asian countries (20.0%) had public health insurance coverage for bariatric surgery. In 2017, 95,125 patients underwent bariatric/metabolic surgery, with sleeve gastrectomy accounting for 68.0%, bypass surgery for 19.5%, and others for 12.5%. Current problems included public insurance coverage, training system, national registry, and lack of awareness and comprehension.
CONCLUSION: This summary showed that bariatric/metabolic surgery is rapidly developing along with various problems in Asia-Pacific countries.