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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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    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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    Transcriptomic expression levels of the VHL, TIMP-3, and RASSF1A genes in renal tumors
    (VERDUCI PUBLISHER, 2019) Üre, I.; Konaç, Ece; Alp, E.; Önen, Hacer İlke; Batur, A. F.; Gönül, I. I.; Menevşe, S.; Sözen, S.
    OBJECTIVE: In this study, we aimed to investigate the relation between the mRNA expression levels of VHL, TIMP-3 and RASSF1A genes, and the histopathological and clinical characteristics of patients with renal tumors. PATIENTS AND METHODS: Radical nephrectomy specimens of cases presented without neoadjuvant treatment were confirmed to be cancerous, non-cancerous, benign, and healthy after removal from separate localizations. A total of 69 patients with kidney tumors (138 tissue samples) were included in the study group. RNA isolation, reverse transcriptase PCR (RT-PCR), and quantitative real time PCR (qPCR) were performed, and the GAPDH gene was used to normalize mRNA levels. RESULTS: In the RCC cancerous tissue. TIMP-3 levels increased 1.3 times and RASSF1A levels increased 1.4 times compared to the corresponding levels in non-cancerous tissues, and there was no statistically significant difference in these values. On the other hand, VHL gene expression levels in cancerous tissue were 2.8 times higher than in matched adjacent non-cancerous tissues (p < 0.05). In the case of oncocytomas, TIMP-3 levels were found to be 3.2 times higher, RASSF1A levels 3.8 times higher, and VHL levels 2.2 times lower than the corresponding levels in healthy tissues (p < 0.05). CONCLUSIONS: The roles of VHL, TIMP-3, and RASSF1A mRNA expression in contributing to the development of renal tumors could not be clearly established. Further studies are therefore required to elucidate the mechanisms underlying renal tumors.
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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.