WordNet

United States playwright (1915-2005) (同)Arthur Miller
United States bandleader of a popular big band (1909-1944) (同)Glenn Miller, Alton Glenn Miller
United States novelist whose novels were originally banned as pornographic (1891-1980) (同)Henry Miller, Henry Valentine Miller
machine tool in which metal that is secured to a carriage is fed against rotating cutters that shape it (同)milling machine
someone who works in a mill (especially a grain mill)
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
Scottish philosopher who expounded Benthams utilitarianism; father of John Stuart Mill (1773-1836) (同)James Mill
English philosopher and economist remembered for his interpretations of empiricism and utilitarianism (1806-1873) (同)John Mill, John Stuart Mill

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1. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
2. 幼児および小児における小頭症の病因および評価 etiology and evaluation of microcephaly in infants and children
3. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
4. 点頭てんかんの病因および発症機序 etiology and pathogenesis of infantile spasms
5. 微細重複症候群 microduplication syndromes

Mahgoub L1, Aziz K2, Davies D3, Leonard N4.
AJP reports.AJP Rep.2014 May;4(1):13-6. doi: 10.1055/s-0033-1364192. Epub 2014 Mar 28.
Miller-Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions pres
PMID 25032053

Hind brain agenesis a rare imaging findings in cerebro cerebellar lissencephalic syndrome.

Mundaganur PM1, Solwalkar P2, Nimbal V3.
Journal of clinical and diagnostic research : JCDR.J Clin Diagn Res.2014 Jan;8(1):140-1. doi: 10.7860/JCDR/2014/6617.3952. Epub 2014 Jan 12.
A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly). Though agenesis of cerebellum and brainstem were included in literature, in most of the cases we saw a hypoplasia or atro
PMID 24596746

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.

Chen CP1, Chang TY, Guo WY, Wu PC, Wang LK, Chern SR, Wu PS, Su JW, Chen YT, Chen LF, Wang W.
Gene.Gene.2013 Dec 10;532(1):152-9. doi: 10.1016/j.gene.2013.09.044. Epub 2013 Sep 19.
We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR) in a fetus with lissencephaly, corpus callosum dysgenesis, ventriculomegaly,
PMID 24055730

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17 p 13.3

英: Miller-Dieker syndrome, MDS
同: 脳回欠損症候群 lissencephaly syndrome、ミラー-ディーカー症候群 Miller-Dieker症候群、ミラー・ディーカー脳回欠損症候群 Miller-Dieker lissencephaly syndrome MDLS、chromosome 17p13.3 deletion syndrome

滑脳症に加え、多くの奇形を合併した症候群である。ニューロンの移動の障害が本態である。
実際には有病率と罹患率はもっと高いが、10万出生に1例という推計があるまれな疾患である。MDS児は重度の発達遅延があり、ふつうはてんかんや哺乳に問題を抱えているのが一般的である。
LTS1遺伝子を含む17p13.3の欠失がほぼ100%の患者にみられる。また常染色体優性遺伝する。
治療は対症療法である。