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    Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies
    (2010) Alp, E.; Alp, H.; Atabek, M. E.; Pirgon, Ö.
    Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14 th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15 th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.
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    Effect of transglutaminase on some properties of cake enriched with various protein sources
    (WILEY, 2008) Alp, H.; Bilgicli, N.
    The effect of transglutaminase (TG) enzyme addition (0% and 0.09%) on batter and cake properties prepared with different protein sources (nonfat dry milk [NFDM], soy flour, and soymilk) and flour types A with 11.4% protein and type B with 8.6% protein), was investigated, Specific gravity and pH of cake be were determined, and physical and chemical analysis of the cake samples was performed. Soy products improves cake weight, volume, softness, protein, and fat contents. NFDM increased the crust redness and crumb lightned more than the other protein sources. TG enzyme addition affected the volume, softness, crust, and crumb col the cake samples significantly (P < 0.05). The combination of TG enzyme and flour B with lower protein gave mopuffed, puffed, symmetrical, and softer cake samples. TG had a potential application with different protein sources in production. Especially interactions between TG with soy flour and TG and wheat flour with high protein cot were important In cake formulations due to the softening effect on crumb.
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    Greig cephalopolysyndactyly syndrome: A family report
    (2010) Alp, H.; Alp, E.; Çimen, Derya; Oran, B.
    Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant condition characterized by distinct combination of craniofacial, hand and food malformations. It is caused by mutations of the gene GLI3, located on 7p13. The clinical features consistent with GCPS are typical craniofacial findings, post or preaxial polysyndactyly of the hands and feet. In this report we describe clinical and radiological findings of a Turkish family in which five members of three generations could be examined. Dysgenesis of the corpus callosum is diagnosed in one of the patients. A rare clinical manifestation, pectus excavatum, is also seen in two of the cases. Copyright © 2010 by Türkiye Klinikleri.
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    Waardenburg syndrome: A case report [Waardenburg sendromu: Bir vaka sunumu]
    (2010) Alp, H.; Alp, E.
    Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings. © The Journal of Current Pediatrics, published by Galenos Publishing.