WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
Swedish soprano who toured the United States under the management of P. T. Barnum (1820-1887) (同)Jenny Lind, Swedish Nightingale

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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1. フォンヒッペル・リンダウ病の臨床的特徴、診断、およびマネージメント clinical features diagnosis and management of von hippel lindau disease
2. フォンヒッペル・リンダウ病の分子生物学および病因 molecular biology and pathogenesis of von hippel lindau disease
3. 血管芽細胞腫 hemangioblastoma
4. 遺伝性腎癌症候群 hereditary kidney cancer syndromes
5. 腎細胞癌の疫学、病理、および病因 epidemiology pathology and pathogenesis of renal cell carcinoma

English Journal

Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.

Galan SR, Kann PH.SourceDivision of Endocrinology & Diabetology, Faculty of Medicine, Philipp's University Marburg, University Hospital Giessen and Marburg, Marburg, Germany.
Clinical endocrinology.Clin Endocrinol (Oxf).2013 Feb;78(2):165-75. doi: 10.1111/cen.12071.
Although most pheochromocytomas (PCCs) and paragangliomas (PGLs) are sporadic, molecular genetic medicine has revealed that a considerable number of patients with apparently sporadic PCC actually have a genetic predisposition to the development of these tumors. After decades of intensive research, s
PMID 23061808

Vasoactive intestinal peptide induces oxidative stress and suppresses metastatic potential in human clear cell renal cell carcinoma.

Vacas E, Bajo AM, Schally AV, Sánchez-Chapado M, Prieto JC, Carmena MJ.SourceDepartment of Biochemistry and Molecular Biology, University of Alcalá, Alcalá de Henares, Spain.
Molecular and cellular endocrinology.Mol Cell Endocrinol.2013 Jan 30;365(2):212-22. doi: 10.1016/j.mce.2012.10.021. Epub 2012 Nov 1.
Molecular mechanisms involved in progression of clear-cell renal-cell carcinomas (ccRCCs) are poorly understood. A common genetic mutation found in ccRCC is the loss of the von Hippel-Lindau (VHL) gene, which contributes to cancer progression and metastasis. We investigated VIP effects on metastatic
PMID 23123564

Hypoxia-inducible factor prolyl 4-hydroxylases, common and specific roles.

Myllyharju J, Koivunen P.AbstractAbstract Hypoxia-inducible transcription factor (HIF), an αβ dimer, is the key inducer of hypoxia responsive genes that operate both during normal development and pathological processes in association with decreased oxygen availability. The products of HIF target genes function in e.g. hematopoesis, angiogenesis, iron transport, glucose utilization, resistance to oxidative stress, cell proliferation, survival and apoptosis, extracellular matrix homeostasis, and tumorigenesis and metastasis. HIF is accumulated in hypoxia, whereas it is rapidly degraded in normoxic cells. The oxygen sensing mechanism behind this phenomenon is provided by HIF prolyl 4-hydroxylases (HIF-P4Hs, commonly known as PHDs and EglNs) that require oxygen in their reaction. In normoxia two prolines in the oxygen-dependent degradation domain of the HIFα subunit become hydroxylated by the HIF-P4Hs. The 4-hydroxyproline residues formed serve as recognition sites for the von Hippel-Lindau E3 ubiquitin ligase complex, and result in subsequent ubiquitination and instant proteasomal degradation of HIFα in normoxia. The HIF-P4H reaction is inhibited in hypoxia, HIFα evades degradation and forms a functional dimer with HIFβ leading to activation of the HIF target genes. The central role of HIF-P4Hs in the regulation of the hypoxia response pathway has provided an attractive possibility as a drug candidate for treatment of e.g. severe anemias and ischemic conditions and several companies are currently carrying out clinical studies on the use of HIF-P4H inhibitors to treat anemia in patients suffering from a kidney disease. Therefore, it is important to understand the effects of individual HIF-P4H isoenzymes on the hypoxia response and potential other pathways in vivo. Common and specific functions of the HIF-P4H isoenzymes are discussed in this review based on available data from cell biological studies and gene-modified animals.
Biological chemistry.Biol Chem.2013 Jan 15. pii: /j/bchm.just-accepted/hsz-2012-0328/hsz-2012-0328.xml. doi: 10.1515/hsz-2012-0328. [Epub ahead of print]
Abstract Hypoxia-inducible transcription factor (HIF), an αβ dimer, is the key inducer of hypoxia responsive genes that operate both during normal development and pathological processes in association with decreased oxygen availability. The products of HIF target genes function in e.g. hematop
PMID 23324380

Japanese Journal

両側副腎褐色細胞腫摘除術26年後に局所再発したvon Hippel-Lindau病随伴褐色細胞腫の1例

藤田尚紀,三上穣太郎,村澤洋美,岡本亜希子,今井篤,畠山真吾,石村大史,米山高弘,古家琢也,神村典孝,大山力,諸橋聡子,鬼島宏
泌尿器科紀要 59(7), 427-430, 2013-07-00
… His cousin and second cousin had pheochromocytoma associated with von Hippel-Lindau (VHL) disease. … Genetic testing revealed that the patient and his daughter had VHL disease. …
NAID 120005308136

Essential Knowledge for Neurofibromatosis Type 2 (NF2) and von Hippel-Lindau Disease (VHLD) in the Practice of Neurologic Surgery

植木敬介,樋口芙未,河本俊介,金彪
Japanese Journal of Neurosurgery 22(2), 96-100, 2013
… Neurofibromatosis 2 (NF2) and von Hippel-Lindau Disease (VHLD) are the two most frequently encountered familial neoplastic diseases in neurosurgery practice. … Optimal management requires knowledge on the natural course of the disease, which is essential to determine the timing and method of intervention. …
NAID 130003379590

Craniospinal Hemangioblastoma associated with Von Hippel-Lindau Disease Review

中村英夫,倉津純一,執印太郎
Japanese Journal of Neurosurgery 22(1), 52-60, 2013
… Von Hippel-Lindau (VHL) disease is neoplastic syndrome that affects multiple organ systems. … Most patients with this disease (60-80%) harbor hemangioblastomas and neurosurgeons often treat craniospinal hemangioblastomas in these patients. … VHL disease is transmitted across generations in an autosomal dominant manner ; …
NAID 130003379586