分類が困難であった初老期痴呆の一例

症例は55歳,男性。初発症状や画像所見および臨床症状がPick病に一致していたが痴呆の進行があまりにも急速でありC-J病が疑われた。しかしミオクローヌスや周期性同期性放電は見られず,さらに滞続言語を認め,C-J病は否定的であった。その他球麻痺症状を認め,また呼吸筋麻痺の存在があると考えられ運動ニューロン疾患(MND)を伴う痴呆も疑われたが,筋萎縮が認められず,MND伴う痴呆も否定的であった。最近,前頭側頭型痴呆(FTD)という概念が提唱されており,本症例もFTDに属する可能性が高いと考えられたが,FTDの臨床的特徴にある「緩徐な進行」という点では一致しなかった。本症例は従来の痴呆疾患の分類では一致するものはなかった。FTDを含む非Alzheimer型痴呆は臨床像からの分類が困難な症例も存在し,その病態はほとんど解明されていないのが現状であり,このような症例の詳細な臨床的観察と病理学的検索の集積により将来新しい疾患の発見,分類が期待される。A 55-year-old man, who had been diagnosed as having Pick\u27s disease based on clinical and neuroimaging findings, was admitted to our hospital. From 4 months before the admission, he was noticed to have become short-tempered, and his behaviors were not appropriate for occasions. In parallel, his disability in performing social activities became obvious. The magnetic resonance imaging of his brain indicated marked frontotemporal atrophy and bilateral dilatation of the lateral ventricle as well as mild atrophy of other brain regions. By use of single photon emission computed tomography with ^I-IMP, the regional cerebral blood flow was found to be markedly decreased in bilateral frontal lobes and the right temporal lobe. His condition severely deteriorated during a short period after the admission, showing symptoms such as disorientation, poor rapport with others, "stehende Redensart" (C. Schneider), and extinct initiative in thought, speech and behavior. Dysarthria and dysphagia appeared 7 months after the admission, which further deteriorated his condition, leading to his death due to respiratory failure within 9 months after the admission. This very acute course of deterioration seemed to be unusual for Pick\u27s disease. Creutzfeldt-Jakob disease (CJD) was not feasible, because neither periodic synchronous discharges nor myoclonic movements were observed whereas "stehende Redensart", which is seldom seen in CJD patients, became outstanding. It was also difficult to define this case as dementia with motor neuron disease, because neither muscle atrophy nor fasciculation was notable. Although we infer that this case is closely related to the frontotemporal dementia (FTD) proposed by the Lund and Manchester group, the clinical and neuroimaging findings may not safely be attributed to this subgroup of dementia. Since little is known about non-Alzheimer degenerative dementia including FTD, further accumulation of dementia cases having clinical features inconsistent with known classifications is needed to understand dementia and to define subgroups

Additional file 4 of Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018

Additional file 4: Supplemental results.1. README. 2. Prevalence range across districts. 3. Prevalence range between sexes. 4. Prevalence range between ages. 5. Age-specific district ranges

Additional file 33 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 33: Table S22. Mouse genes with lipid phenotypes (silver set)

Additional file 23 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 23: Table S15. Comparison of the sex-specific effects

Additional file 2 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 2: Table S2. Association results for the multi-ancestry index SNPs with the gene prioritization

Additional file 4 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 4: Table S3. Text mining results for the PoPS+ prioritized genes

Additional file 25 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Additional file 25: Table S16. Comparison of effect size estimates for sex-stratified analysis in the replication cohorts