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Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

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World Journal of Clinical Cases 2020年第21期8卷 5296-5303页

作者： Jaime Toral-Lopez Luz María González Huerta Olga Messina-Baas Sergio A Cuevas-Covarrubias Departamento de Genética Medica Centro Medico EcatepecISSEMYMEcatepec 55000México Programa de Maestría y Doctorado en Ciencias Médicas Odontológicas y de la Salud/Hospital Infantil de MéxicoUniversidad Nacional Autónoma de MéxicoMéxico 06720México Departamento de Biología Molecular Hospital General de MéxicoCuauhtémoc 06720México Departamento de Oftalmología Hospital General de MéxicoCuauhtémoc 06720México Genetica Hospital General de MéxicoCuauhtémoc 06726Mexico Sergio A Cuevas-CovarrubiasPrograma de Maestría y Doctorado en Ciencias MédicasOdontológicas y de la SaludUniversidad Nacional Autónoma de MéxicoMéxico 06720Mexico

BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the ***,treatment is only rehabilitation and surgery for cleft lip and *** SUMMARY The proband was a 2-years-8-months-old *** history was negative for congenital malformations or intellectual *** patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and *** magnetic resonance imaging showed cortical atrophy and band *** motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were *** There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 *** describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular *** clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.

关键词： Submicroscopic 11p13 deletion Elongator acetyltransferase complex subunit 4 gene Language failure Intellectual disability congenital malformations Case report

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Perinatal Outcome and Frequency of congenital malformations in Pregnancy Complicated with Diabetes Type 1 and Type 2

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Open Journal of Obstetrics and Gynecology 2016年第2期6卷 122-128页

作者： Vjosa M. Kotori Marina Ivanišević Josip Đelmiš Department of Obstetrics and Gynecology State Referral Centre for Diabetes in Pregnancy School of Medicine Zagreb Croatia Currently at University Medical Centre of Kosovo Prishtina Kosovo

Objectives: The objectives of this study were to evaluate and compare perinatal outcomes and frequency of congenital malformations in pregnancy that are complicated with type 1 and type 2 diabetes. Study Design: This prospective study included 557 pregnant women with type 1 diabetes and 149 pregnant women with type 2 diabetes that gave birth in the Clinic for Diabetes in Pregnancy in Zagreb, from January 2000 to December 2012. Results: Women with type 2 diabetes were significantly older than women with type 1 diabetes (p malformations were higher in women with type 1 vs. type 2 diabetes (12 versus 7), but not statistically significant. Glycosylated haemoglobin (HbA1c) levels were statistically significantly higher in the first trimester (8.02% v. 6.72%), second (7.55% versus 6.27%) and third trimester (7.40% versus 6.03%) in women with type 1 and type 2 diabetes that gave birth to neonates with congenital malformations. Perinatal mortality was higher in pregnant women with type 1 diabetes than in women with type 2 diabetes (4 versus 2) but not statistically significant. Conclusion: Comparing perinatal mortality and frequency of congenital malformations in women with type 1 and type 2 diabetes, we didn’t find any important statistical differences. There is no

关键词： Type 1 and Type 2 Diabetes Mellitus congenital malformations Macrosomia Perinatal Mortality

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Wg signaling in Drosophila heart development as a pioneering model

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Journal of Genetics and Genomics 2010年第9期37卷 593-603页

作者： Xiushan Wu The Center for Heart Development, Key Lab of MOE for Developmental Biology and Protein Chemistry, College of Life Sciences, Hunan Normal University, Changsha, 410081, China The Center for Heart Development Key Lab of MOE for Developmental Biology and Protein Chemistry College of Life Sciences Hunan Normal University Changsha 410081 China

The heart is one of the first functional embryonic organs occurring during development. The fundamental developmental processes and genes involved in cardiogenesis are conserved between the invertebrates and vertebrates. In the past fifteen years, one of signaling pathways that has been best characterized in heart development in both invertebrates and vertebrates is the Wg/Wnt signaling pathways. Since our discovery of the Wg signaling required for the early heart development in Drosophila, the past fifteen years have witnessed tremendous progress in the understanding of specific Wnt signaling pathways in vertebrate cardiogenesis. This review will summarize the current state of knowledge of Wg signaling transduction in Drosophila heart development, which will benefit our understanding of vertebrate cardiogenesis and human congenital malformations.

关键词： heart development Wg/Wnt signaling pioneering model congenital malformations

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Major Ear Aplasia and Cochleovestibular Dysplasia: Rare congenital Malformation about a Case

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International Journal of Otolaryngology and Head & Neck Surgery 2023年第6期12卷 397-404页

作者： Mouangue-Mbonjo Louise Epée Ngoué Jeannette Mantho Fopa Pauline Njifou Njimah Amadou Faculty of Medicine and Pharmaceutical Sciences (FMSP) Department of Surgery and Specialties University of Douala Douala Cameroon ENT and Maxillofacial Surgery Department Yaoundé Central Hospital Yaoundé Cameroon Department of Pediatrics Faculty of Medicine and Biomedical Sciences University of Yaoundé I Yaoundé Cameroon

Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.

关键词： Ear malformations congenital malformations Major Aplasia congenital Facial Paralysis congenital Deaf-Mutism

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ICSI治疗男科不育对后代的影响

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Asian Journal of Andrology 2012年第1期14卷 116-120,178页

作者： Jane Halliday Public Health Genetics Murdoch Children＇s Research Institute Parkville Vic. 3052 Australia Department of Paediatrics University of Melbourne Carlton Vic. 3053 Australia

Since the introduction of intracytoplasmic sperm injection （ICSI） using single sperm isolated from testicular tissue in men with obstructive and non-obstructive azoospermia, or using ejaculated sperm in those with poor semen quality, there have been concerns that this might have adverse effects on the offspring compared to conventional in vitrofertilisation （IVF） and natural conceptions. ICSI is done for reasons other than male factor infertility, and on the whole has not been shown to have any more negative effects than those seen with IVF. There have however, been very few studies of ICSI with a focus on, or large enough numbers to examine, the specific outcomes associated with male factor infertility. From the limited information available in relation to the source of the sperm and aetiology of infertility in the presence of ICSI, there appears to be no increased risk of congenital malformations. There is, however, a small increase in both de novoand inherited chromosome abnormalities. In terms of growth and neurodevelopment, there are very few studies, and so far, no adverse outcomes have been found in young children whose fathers have a sperm defect. The origin of the sperm used in ICSI does not have a major influence on the early life outcomes for the offspring, but transgenerational and epigenetic effects remain unknown. When the male factor infertility is known or thought to be due to a Y-chromosome deletion, this information should be given to the young male offspring at a time that will ensure his own reproductive health and plans are optimized.

关键词： congenital malformations ICSI male factor infertility neurodevelopment offspring outcomes Y-chromosome deletions

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Apert Syndrome: A Case Report and Review of Literature

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Open Journal of Pediatrics 2016年第2期6卷 175-184页

作者： Simon Pius Halima Abubakar Ibrahim Mustapha Bello Kefas Mbaya Jose Pwavimbo Ambe Dapartment of Paediatrics University of Maiduguri Teaching Hospital Maiduguri Nigeria Department of Surgery University of Maiduguri Teaching Hospital Maiduguri Nigeria

Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndrome, fibroblast growth factor receptor 2 (FGFR2) and the missense substitution mutations occur at adjacent amino acids (i.e. Ser252Trp, Ser 252Phe, Pro253Arg) between the second and third extra cellular immunoglobulin domain of FGFR2, which maps to chromosome bands 10q26. Increased paternal age has been implicated in the development of Apert syndrome. The syndrome has to be thoroughly evaluated as early definitive diagnosis is important in order to distinguish Apert syndrome from other forms of craniosynostosis like Carpenter syndrome, Crouzon disease, Pfeiffer and Saethre-Chotzen syndrome. It is generally accepted that management of Apert syndrome is multidisciplinary in approach, which should compose of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons, ophthalmologists, radiologists, geneticists, clinical psychologists and speech and language pathologists for the effective management of this condition. Early diagnosis and treatment is important because Apert syndrome when treated early has good prognosis in adult life.

关键词： Apert Syndrome congenital malformations Autosomal Dominant Premature Fusion of Sutures Hoof/Rosebud Hand

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Isolated Unilateral Pulmonary Agenesis in Adults

Isolated Unilateral Pulmonary Agenesis in Adults

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2013年第六届国家级分子靶点药物治疗新进展学习班暨浙...

作者： Hong Shen Dept.of Oncology the Second Affiliated Hospita lof Zhejiang University College of Medicine

Pulmonary agenesis is a rare condition,usually associated with various congenital *** patients present in the neonatal period with respiratory *** we have two adult cases of isolated unilateral pulmonary *** first case was a 33-year-old woman who was asymptomatic and admitted to the hospital for breast *** second case was 35-year-old man who presented cough with purulent sputum. Both of the two cases were detected by chest compute tomography(CT) with the absence of left lung and proved the diagnosis of unilateral pulmonary agenesis under the examination of *** first patient took a modified radical mastectomy and kept symptoms *** second patient improved after treatment of\ *** cases demonstrated that the patients of the left pulmonary agenesis could grow up without obvious symptoms,meanwhile it also reveals the lack of health check up in rural area in China.

关键词： Pulmonary agenesis congenital malformations respiratory distress adult

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