A5066699706- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Infectious Encephalopathies and Encephalitis
- Pharmacological Effects and Toxicity Studies
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Childhood Cancer Survivors' Quality of Life
- Genomics and Rare Diseases
- Ion Transport and Channel Regulation
- Calpain Protease Function and Regulation
- Muscle Physiology and Disorders
- Spinal Cord Injury Research
- Vascular Malformations Diagnosis and Treatment
- Complement system in diseases
- Cellular transport and secretion
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Glioma Diagnosis and Treatment
- Congenital heart defects research
- Cerebrospinal fluid and hydrocephalus
- Peripheral Neuropathies and Disorders
- Glycogen Storage Diseases and Myoclonus
- Cardiovascular Function and Risk Factors
Tottori Prefectural Central Hospital
2008-2024
Tottori University
2006-2017
Abstract Objective Gaucher disease (GD) is a lysosomal storage characterized by deficiency of glucocerebrosidase. Although enzyme‐replacement and substrate‐reduction therapies are available, their efficacies in treating the neurological manifestations GD negligible. Pharmacological chaperone therapy hypothesized to offer new strategy for this disease. Specifically, ambroxol, commonly used expectorant, has been proposed as candidate pharmacological chaperone. The purpose study was evaluate...
ATP1A3 , a mutated gene for AHC, RDP, and CAPOS, is also associated with polymicrogyria by different functional variants.
Interstitial deletions of the 11p13 region are known to cause WAGR (Wilms tumor, aniridia, genitourinary malformation, and "mental retardation") syndrome, a contiguous gene deletion syndrome due haploinsufficiencies genes in this region, including WT1 PAX6. Developmental delay autistic features major complications syndrome. Previously, some located have been suggested as responsible for features. In study, we identified two patients who showed chromosomal involving 11p13. Patient 1, having...
Background Various conjugated cholesterol metabolites are excreted in urine of the patients with metabolic abnormalities and hepatobiliary diseases. We aimed to examine usefulness precursor ion scan neutral loss for characterization urine. Methods A mixture authentic standards was used investigating performance present method. The Niemann–Pick diseases type C 3β-hydroxysteroid dehydrogenase deficiency were analysed by m/z 97, 74, 124. Results 97 effective identifying conjugates ester...
To elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic (MAE) or Doose syndrome.
症例は尿路感染症の既往のない6歳女児．発熱と腹痛を主訴に受診した．生活歴の問診から，トイレ排尿に失敗した際に父親から叱責された後，排泄習慣に複数の問題が出現したことが判明した．入院時の尿培養検査では菌量が少なく結果としては陰性であったが，問診から尿路感染症を最も疑った．造影CT検査から急性巣状性細菌性腎炎，腎膿瘍と診断した．脊椎MRIに神経学的異常所見がなく，Hinman-Allen症候群が基礎疾患であると考えた．内服治療などが検討されることもあるが，本児は排尿指導のみで排泄習慣が改善し，現在まで尿路感染症の再発なく経過している．器質的疾患以外を背景として腎膿瘍を発症することはまれであり，学童期の初発の尿路感染症では排泄習慣の問診を行う必要がある．また，排尿指導内容についての詳細な報告は乏しい．本症候群は排尿指導で尿路感染症の再発なく治癒する可能性があるため，実際の指導内容とともに報告する．
症例は14歳，女児。ぶどう膜炎を発症。初診時血清Crと尿中β2MG値の上昇，ならびに尿糖，白血球尿，尿濃縮力障害を認めた。腎生検では糸球体の形態に異常はみられなかったが間質への著明な単核球浸潤があり，急性間質性腎炎の像を呈していた。本人ならびに家族とのインフォームドコンセントの結果，ステロイドの全身投与を行わず無治療で経過観察としたところ，血清Cr値と尿中β2MG値は徐々に低下し8ヵ月後にはほぼ正常化した。 本例はステロイドの全身投与を行うことなく腎症状が軽快した症例である。本症候群の腎症に対しては腎機能の急激な悪化がない限り，当面無治療で経過観察するのがよいと思われた。