1,354,174 research outputs found
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: Studies in a new case
No full textWe describe an additional case of Cenani-Lenz syndactylism in a 41/2-year-old boy from a consanguineous Turkish family. The digital anomalies consisted partly of synostosis and partly of malformations of the phalanges. Although there was no radio-ulnar synostosis or abnormality of the bones of the feet, the findings are comparable to those described in the Cenani-Lenz type of syndactyly. me analysed the dermatoglyphics of our patient and compared them with those previously reported. We also investigated the relationship between the bony malformations and the dermatoglyphic patterns in our patient and in the literature. Am. J. Med. Genet. 70:341-345, 1997. (C) 1997 Wiley-Liss, Inc
A variant of Cenani-Lenz type syndactyly
No full textCenani-Lenz syndrome is a form of complete syndactyly resembling the spoon hand in Apert syndrome. It Is often associated with disorganization of phalanges, the fusion of metacarpals and mesomelic shortness of the arm. We describe an additional case of Cenani-Lenz type of syndactylism in a 16 month-old girl who also has rib and vertebral abnormalities and mixed type hearing loss, that have not been seen before in a single patient
A summary of archaeological research in Turkey in 1950
No full textTaha Toros Arşivi, Dosya No: 49-Cenani Ailesi (Kadri Paşa). Not: Türkiye Turing ve Otomobil Kurumunun 121 sayılı Belleteninden neşrolunan yazının ayrı tabıdır.Unutma İstanbul projesi İstanbul Kalkınma Ajansı'nın 2016 yılı "Yenilikçi ve Yaratıcı İstanbul Mali Destek Programı" kapsamında desteklenmiştir. Proje No: TR10/16/YNY/010
Clinical comparison of two regimens of lidocaine infusion in horses undergoing laparotomy for colic
No full textTo compare, in horses undergoing laparotomy
for colic, the effects of administering or not
administering a loading intravenous (IV) bolus of
lidocaine prior to its constant rate infusion (CRI).
Effects investigated during isoflurane anaesthesia
were end-tidal isoflurane concentration (FE′ISO),
cardiovascular function, anaesthetic stability and
the quality of recovery
Severe Cenani-Lenz syndrome caused by loss of LRP4 function
No full textLimb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5- and LRP6-mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani-Lenz syndrome caused by a novel homozygous nonsense mutation in LRP4. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype-phenotype correlatio
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
No full textCenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling. © 2010 The American Society of Human Genetics
LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
No full textCenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling
Two unusual types of syndactyly in the same family; Cenani-Lenz type and << new >> type versus severe type I syndactyly?
No full textCenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not
Mehmet ali Cenani Bey’in hayatı ve parlamento faaliyetleri (1872-1934)
No full text06.03.2018 tarihli ve 30352 sayılı Resmi Gazetede yayımlanan “Yükseköğretim Kanunu İle Bazı Kanun Ve Kanun Hükmünde Kararnamelerde Değişiklik Yapılması Hakkında Kanun” ile 18.06.2018 tarihli “Lisansüstü Tezlerin Elektronik Ortamda Toplanması, Düzenlenmesi ve Erişime Açılmasına İlişkin Yönerge” gereğince tam metin erişime açılmıştır.Türk siyasi hayatında önemli bir yer edinen özellikle mali konulardaki yetkinliğiyle dikkat çeken bir isim olan Mehmet Ali Cenani Bey'in hayatı ve parlamento çalışmaları bu araştırmanın konusunu teşkil etmektedir. Meşrutiyet'ten Cumhuriyet'e uzanan süreçte yer alan Ali Cenani Bey'in siyasi hayatını ortaya çıkarmak ve dönemin tarihi olayları içindeki yerini tespit edebilmekse çalışmanın temel amacıdır. Bu çalışmada onun siyasal ve toplumsal süreci algılayışı, yönlendirme kabiliyeti, verdiği kanun teklifleri, niteliği, bunların yasalaşma düzeyi, öncelikli yönelimleri belirlenmeye çalışılmıştır. Araştırmanın genelinde kronolojik esaslara uyulmuş ve çeyrek asırlık bir döneme tanıklık eden Ali Cenani Bey'in öncelikle ayrıntılı bir biyografisine yer verilmiştir. Osmanlı Meclis-i Mebusanı'nda önce Halep sonra da Antep mebusu olarak yer alan Cenani Bey, Meşrutiyet'in ilk yıllarında II. Abdülhamid karşıtı, İttihatçı bir siyasi kimlik sergilemiş 1912 genel seçimiyle İttihatçılarla karşılıklı olarak yollarını ayırmıştır. Bu yıldan itibaren mecliste bağımsız bir mebus olarak hareket etmiş, İngilizlerin son Osmanlı Meclisi'ni dağıttığı dönemdeyse işgalci güçlerin yanında bir tutum takınmıştır. Milli Mücadele yıllarında Mustafa Kemal ve grubunu yağmacı olarak nitelemiş fakat aynı zamanda kendi köy ve topraklarının da bulunduğu güney cephesinin örgütlenmesine destek olmuştur. Türkiye Büyük Millet Meclisi'nde 1920-1931 yıllarını kapsayan üç ayrı dönemde Gaziantep mebusluğu yapmış, birinci grup içerisinde yer almıştır. İkinci dönem TBMM'de mebusluğun yanı sıra ticaret vekilliği vazifesini de yaklaşık iki yıl sürdürmüştür. Vekilliği sırasında vekâlet tasarrufuna verilen 500.000 liralık zahire fonunun usulsüzce harcandığı ve hazinenin zarara uğratıldığı gerekçesiyle önce meclis sonra Yüce Divan sorgulamasıyla karşı karşıya kalmıştır. Yüce Divan başta Ali Cenani Bey'in görevi ihmal ve gevşeklikten beraatına, görevi suiistimalden bir ay hapis ile dört ay rütbe ve memuriyetten mahrumiyetine mahkûm olduğunu açıklamış sonra bu cezasını erteleyerek, zimmetinde kalan paranın kendisi tarafından faiziyle tahsis edilmesine hükmetmiştir. Hayatının son yılları itibar kaybı, mali ve ailevi sıkıntılar içerisinde geçmiştir.The life and political studies of Mehmet Ali Cenani Bey, who is a prominent figure in Turkish political life with his competence in financial matters, consists the subject matter of this research. The main purpose of this study is to reveal the political life of Ali Cenani Bey who took place in the process from the Constitution Monarchy to the Republic, and to determine his place in the historical events of the period. In this study, it is tried to determine his perception on political and social process, his leading capability, his legislative proposals given, quality and enactment level of these proposals, and also his preferred tendencies. Chronological principles were followed throughout the study, and a detailed biography of Ali Cenani Bey, who witnessed a quarter of a century, was given. Cenani Bey, who was a member of the Ottoman Parliament as first Aleppo Representative and then Antep Repressentative, he had an anti-Abdulhamid attitude in the early years of the Constitutional Period, and present an Unionist political identity, but separated his way with the Unionists during general elections held in 1912. From this year on, he acted as an independent representative in the parliament, and when the British were distributing the last Ottoman Assembly, he stood beside the occupying forces. During the years of National Struggle, he described Mustafa Kemal and his group as plunderers, but he also supported the organization of the southern front, including its own villages and lands. He had appointed as the deputy for Gaziantep in Turkey Grand National Assembly for the covering the years 1920 to 1931. In the second period, beside his deputy duty, he served as Ministry of Commerce in the Turkish Grand National Assembly for an approximate period of two years. During his ministry duty, it is found that 500.000 liras which was given to the treasure as purveyance funds, was wasted and the treasure incurred losses, thus he was confronted with questioning before the Supreme Court. The Supreme Court, in particular, stated that Ali Cenani Bey was acquitted of negligence and deliquency, forfeiture of duty for a period of four months together with deprivation of rank, he received imprisonment for one month, then all his punishments was postponed, the Court was ruled him to refund all the money together with interests. The last years of his life were spent on financial and familial losses, and also loss of his political reputation
Two unusual types of syndactyly in the same family; Cenani-Lenz type and << new >> type versus severe type I syndactyly?
No full textCenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not
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