WordNet

having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
the product of a quantity by an integer; "36 is a multiple of 9"

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多数の部分(要素)から成る,複合の,複式の / 倍数

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1. 頭蓋骨縫合早期癒合症の概要 overview of craniosynostosis
2. 頭蓋骨縫合早期癒合症候群 craniosynostosis syndromes
3. 女性の生殖機能および妊娠に対する高齢化の影響 effect of advanced age on fertility and pregnancy in women
4. 幼児および小児における赤血球輸血の適応 indications for red blood cell transfusion in infants and children
5. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation

English Journal

Potocki-shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Ferrarini A1, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D.Author information 1Division of Pediatrics, San Giovanni Hospital, Bellinzona, Switzerland.AbstractFrontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability. While molecular investigations did not reveal mutations in any of the known genes, ALX4, ALX3, ALX1 and EFNB1, comparative genomic hybridization (array CGH) techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the ALX4 gene. Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. Although the patient reported herein manifests some overlapping features of FND and PPS, it is likely that the observed phenotype maybe due to a second unidentified mutation in the ALX4 gene. The phenotype will be discussed in view of the deleted region encompassing the ALX4 gene. © 2013 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.
Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with c
PMID 24376213

Duration of mechanical ventilation after craniosynostosis repair reduces over time.

Ferrari F1, Nacoti M, Locatelli BG, Corbella D, Khotcholava M, Pellicioli I, Cassisi A, Sonzogni V.Author information 1Department of Anesthesia, Ospedale Papa Giovanni XXIII of Bergamo, Bergamo, Italy - floriana.ferrari@gmail.com.AbstractBackground: Pediatric craniosynostosis repair (CR) involves wide scalp dissections with multiple osteotomies and has been associated with significant morbidity. The aim of this study was to document the impact of perioperative complications on prolonged mechanical ventilation after CR. Methods: Data were collected from the anesthesia records, Pediatric Intensive Care Unit (PICU) progress notes and discharge summaries. All the patients were transferred from the operating room sedated and on mechanical ventilation to the PICU. To highlight the determinants of prolonged mechanical ventilation we performed a logistic regression analysis.. Results: Fifty-five patients underwent CR, but 6 were excluded due to incomplete records. The main intraoperative complications were: metabolic acidosis (32%), hypotension (20%), dural tears laceration (22%) and altered coagulation (18%). Metabolic acidosis (46%) and relative polycythemia (24%) were detected on arrival to the PICU. All children received intraoperative blood products and 23 (46%) were transfused in the postoperative period too. No infective complications were detected. The only determinant associated significantly with a prolonged mechanical ventilation was to have surgery in the first 5 years of the program (P=0.05) (95% CI 0.358-0.996). Conclusion: All life-threatening complications were intraoperative whereas only milder ones, such as hypercloremic and lactic acidosis were noticed in PICU. All children are alive without any neurological deficit. Even though we deal on a daily basis with complex surgical cases, only time, hence experience, showed an impact on prolonged mechanical ventilation.
Minerva anestesiologica.Minerva Anestesiol.2014 Feb;80(2):176-84. Epub 2013 Jul 23.
Background: Pediatric craniosynostosis repair (CR) involves wide scalp dissections with multiple osteotomies and has been associated with significant morbidity. The aim of this study was to document the impact of perioperative complications on prolonged mechanical ventilation after CR. Methods: Data
PMID 23877307

A Novel Heterozygous Mutation Of Three Consecutive Nucleotides Causing Apert Syndrome In A Congolese Family.

Lumaka A1, Mubungu G2, Mukaba P3, Mutantu P4, Luyeye G5, Corveleyn A6, Tady BP7, Lukusa Tshilobo P1, Devriendt K8.Author information 1Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box Kin I, Kinshasa, D.R. Congo.2Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box Kin I, Kinshasa, D.R. Congo.3Department of Surgery, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo.4Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; INRB, Institut National de Recherche Biomedicale, P.O. Box Kin I, Kinshasa, D.R. Congo.5Department of Medical Imaging, Provincial General Hospital of Kinshasa, P.O. Box Kin I, Kinshasa, D.R. Congo.6Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium.7Center for Human Genetics, Faculty of Medicine, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, D.R. Congo.8Centre for Human Genetics, University Hospitals, University of Leuven, P.O. Box 602, 3000 Leuven, Belgium. Electronic address: koenraad.devriendt@uzleuven.be.AbstractApert syndrome (OMIM 101200) is a rare genetic condition characterized by craniosynostosis and syndactyly of hands and feet with clinical variability. Two single nucleotides mutations in the linker between the immunoglobulin-like domains II and IIIa of the ectodomainin the Fibroblast Growth Factor Receptor 2 gene (FGFR2, OMIM 176943) are responsible of the vast majority of cases: c.755C>G; p.Ser252Trp (65%) and c.758C>G; p.Pro253Arg (34%. Three exceptional cases carry multiple substitutions of adjacent nucleotides in the linker region. Here we present a Congolese male patient and his mother, both affected with Apert syndrome of variable severity, carrying a previously undescribed heterozygous mutation of three consecutive nucleotides (c.756_758delGCCinsCTT) in the IgII-IgIIIa linker region. This is the fourth live-born patient to carry a multiple nucleotide substitution in the linker region and is the second alternative amino acid substitutions of the Pro253. Remarkably, this novel mutation was detected in the first Central African patient ever to be tested molecularly for the Apert syndrome. To discriminate between a hitherto unreported mutation and an ethnic specific polymorphism, we tested 105 Congolese controls, and no variation was detected.
European journal of medical genetics.Eur J Med Genet.2014 Jan 28. pii: S1769-7212(14)00022-6. doi: 10.1016/j.ejmg.2014.01.004. [Epub ahead of print]
Apert syndrome (OMIM 101200) is a rare genetic condition characterized by craniosynostosis and syndactyly of hands and feet with clinical variability. Two single nucleotides mutations in the linker between the immunoglobulin-like domains II and IIIa of the ectodomainin the Fibroblast Growth Factor R
PMID 24486773

Japanese Journal

頭蓋骨縫合早期癒合症101例の臨床像,治療,および長期治療成績(<特集>小児神経外科治療と長期予後)

長坂昌登
脳神経外科ジャーナル 20(5), 330-338, 2011-05-20
頭蓋骨縫合早期癒合症(CS)101例の臨床像,手術術式,手術成績を報告した.病型は,単一縫合CS:39例,多縫合CS:33例,症候群性CS:29例であった.発達脳の減圧と頭蓋・顔面の形態改善を目的に,原則として早期手術で治療した.初回手術時の平均年齢は596日,中央値は273日であった.周術期に4例,追跡期間に7例が死亡した.手術からの追跡期間は平均88カ月で,再手術を43例,再々手術を4例に行い …
NAID 110008608116

Status of Orofacial Clefts in National Capital Region (NCR), Philippines A Literature Review of Prevalence, Classifications and Risk Factors

Morimata Jieni
保健医療科学 59(4), 425-426, 2010-12
… However, the syndromic, multiple and isolated groups were not specified and remained undocumented. … Annual reports of international volunteer medical services in 2005 revealed that the Philippines Band of Mercy (PBM) had in total 543 CLP patients treated and 88 other patients with disorders such as craniosynostosis, eye diseases, hydrocephalus and meningocele in the NCR. …
NAID 110009658676

Osteoglophonic dysplasia: a case report

Shankar Vemanna Naveen,Ajila Vidhya,Kumar Gopa
Journal of Oral Science 52(1), 167-171, 2010
… Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. … In previous reports, bone defects usually resolved by adulthood, but multiple tooth impaction may cause aesthetic and masticatory problems. …
NAID 130000253622