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Congenital structure abnormality

Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Edmund Burke, Sanjeev A Datar
PURPOSE OF REVIEW: The essential role of the lymphatic system in fluid homeostasis, nutrient transport, and immune trafficking is well recognized; however, there is limited understanding of the mechanisms that regulate lymphatic function, particularly in the setting of critical illness. The lymphatics likely affect disease severity and progression in every condition, from severe systemic inflammatory states to respiratory failure. Here, we review structural and functional disorders of the lymphatic system, both congenital and acquired, as they relate to care of the pediatric patient in the intensive care setting, including novel areas of research into medical and procedural therapeutic interventions...
March 13, 2018: Current Opinion in Pediatrics
F Mohammadpour Lashkari, M A Sadighi Gilani, A Ghaheri, M R Zamanian, P Borjian Boroujeni, A Mohseni Meybodi, M Sabbaghian
Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history...
March 12, 2018: Andrologia
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
Y Zhang, Q L Chang, Y Zhou, Z J Hou, D M Li
Objective: To observe computed tomography (CT) imaging parameters of congenitally blind microphthalmia in Chinese patients and to provide clinical reference data for the Chinese population. Methods: It was a retrospective study for a consecutive case series of congenitally blind microphthalmia from July 2011 to July 2013. All of the patients were diagnosed in the Ocular Plastic Department, Tongren Eye Center, Beijing Tongren Hospital. We employed multi-section helical CT imaging with a computer-aided design system to observe and measure the imaging features in 82 Chinese patients (85 eyes)...
March 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Shouliang Qi, Baihua Zhang, Yong Yue, Jing Shen, Yueyang Teng, Wei Qian, Jianlin Wu
Tracheal Bronchus (TB) is a rare congenital anomaly characterized by the presence of an abnormal bronchus originating from the trachea or main bronchi and directed toward the upper lobe. The airflow pattern in tracheobronchial trees of TB subjects is critical, but has not been systemically studied. This study proposes to simulate the airflow using CT image based models and the computational fluid dynamics (CFD) method. Six TB subjects and three health controls (HC) are included. After the geometric model of tracheobronchial tree is extracted from CT images, the spatial distribution of velocity, wall pressure, wall shear stress (WSS) is obtained through CFD simulation, and the lobar distribution of air, flow pattern and global pressure drop are investigated...
March 1, 2018: Journal of Medical Systems
Nitash Zwaveling-Soonawala, Paul van Trotsenburg
Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis)...
March 2018: Pediatric Endocrinology Reviews: PER
Andrew M Kim, Timothy A Hunter, Brian F McQuillan, Derek F Franco, Timothy P Griffith, Brett W Carter, John P Lichtenberger
Early identification of congenital heart diseases, specifically those affecting the structural integrity and function of the interventricular septum, in childhood is important toward decreasing the morbidity and mortality of those affected. We review the pertinent clinical and imaging manifestations for those with ventricular septal defects, ventricular septal aneurysms, tetralogy of Fallot, and hypertrophic (obstructive) cardiomyopathy, in addition to discussing first-line imaging studies, including echocardiography, and indications for advanced imaging...
February 27, 2018: Journal of Thoracic Imaging
Chi Wan Koo, Tucker F Johnson, David S Gierada, Darin B White, Shanda Blackmon, Jane M Matsumoto, Jooae Choe, Mark S Allen, David L Levin, Ronald S Kuzo
The diaphragm is an unique skeletal muscle separating the thoracic and abdominal cavities with a primary function of enabling respiration. When abnormal, whether by congenital or acquired means, the consequences for patients can be severe. Abnormalities that affect the diaphragm are often first detected on chest radiographs as an alteration in position or shape. Cross-sectional imaging studies, primarily computed tomography (CT) and occasionally magnetic resonance imaging (MRI), can depict structural defects, intrinsic and adjacent pathology in greater detail...
February 27, 2018: British Journal of Radiology
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J McElwee, Joseph Maranville, Raz Somech, Scott B Snapper, Batia Weiss, Dror S Shouval
BACKGROUND: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. AIM: To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis...
February 26, 2018: Digestive Diseases and Sciences
Souheil Saddekni, Amr Ahmed Abouateya, Rafik Mohamed Ibrahim, Maysoon Farouk Hamed, Sherif Magdy Moawad, Ahmed Anwar Abouarab, Ahmed Kamel Abdel Aal
We present the case of a 54-year-old male patient diagnosed with a right upper lobe lung cancer and was referred for resection. Positron emission tomography-computed tomography scan showed a prominent vascular structure in the right lung, suspicious for vascular malformation. A computed tomography angiography was done, demonstrating an intercostobronchial trunk-pulmonary artery fistula. There was also non-tapering dilated wandering pulmonary artery coursing through the right lower lung without any abnormal connection with pulmonary veins and were supplying normal lung parenchyma...
December 2017: Radiology Case Reports
Joan L Robinson
Zika virus (ZIKV) was recently recognized to be teratogenic. The diagnosis of congenital ZIKV syndrome should be considered in children with unexplained microcephaly, intracranial calcifications, ventriculomegaly or major structural central nervous system abnormalities. Management is evolving but suggestions are provided for children with findings compatible with congenital infection and for those born to women with potential exposure during pregnancy.
March 2017: Paediatrics & Child Health
Abhidnya Surve, Rachna Meel, Neelam Pushker, M S Bajaj
Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM). Methods: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe...
March 2018: Indian Journal of Ophthalmology
Samira Navardi, Mohammad Ali Sahraian
Fingolimod, taken orally once per day, is approved for the treatment of relapsing-remitting multiple sclerosis (MS). It should be stopped at least two months before conception as it is not considered safe during pregnancy or when breast feeding. In vitro and animal studies have found a possibly increased risk of congenital abnormalities following exposure to Fingolimod. Here, we report a 34-year-old female, with a 10-year history of MS who had unexpected pregnancy with exposure to generic Fingolimod during the first 7 weeks...
February 14, 2018: Multiple Sclerosis and related Disorders
Jorge L Alvarado-Socarras, Álvaro J Idrovo, Gustavo A Contreras-García, Alfonso J Rodriguez-Morales, Tobey A Audcent, Adriana C Mogollon-Mendoza, Alberto Paniz-Mondolfi
The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding, of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemics in Latin America has highlighted the need for a better understanding on the underlying pathological mechanisms of microcephaly including both infectious and non-infectious causes. The diagnostic approach to microcephaly needs to include potential infectious and genetic etiologies, as well as environmental in-utero exposures such as alcohol, toxins, and medications...
February 19, 2018: Travel Medicine and Infectious Disease
Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome...
February 22, 2018: PLoS Genetics
Aida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, Fahad Al-Hakami, Zafer Yüksel, Anett Marais, Nana-Maria Grüning, Lia Abbasi Moheb, Omid Paknia, Nahla Alshaikh, Seham Alameer, Makia J Marafi, Fahd Al-Mulla, Nouriya Al-Sannaa, Arndt Rolfs, Peter Bauer
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independent confirmation. We present three unrelated families in which whole-exome sequencing identified the homozygous non-sense variants c.430[C>T];[C>T] p.(Arg144*), c.1219[C>T];[C>T] p.(Gln407*) and c.1408[C>T];[C>T] p.(Arg470*) in GTPBP2. Their clinical presentations include early onset and apparently non-progressive motor and cognitive impairment, and thereby overlap with findings in a recently described family harbouring a homozygous GTPBP2 splice site variant...
February 15, 2018: European Journal of Human Genetics: EJHG
Eun-Jae Chung, Hyung Woo Ju, Yeung Kyu Yeon, Ji Seung Lee, Young Jin Lee, Ye Been Seo, Park Chan Hum
Current treatments of oesophageal diseases, such as carcinoma, congenital abnormality or trauma, require surgical intervention and oesophageal reconstruction with the stomach, jejunum or colon. However, serious side effects are possible with each treatment option. Despite tissue engineering promising to be an effective regenerative strategy, no functional solution currently exists for oesophageal reconstruction. Here, we developed an omentum-cultured oesophageal scaffold reinforced by a 3D-printed ring. The nano-structured scaffolds were wrapped into the omentum of rats and orthotopically transplanted for the repair of circumferential oesophageal defects two weeks later...
February 15, 2018: Artificial Cells, Nanomedicine, and Biotechnology
Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu, Yue-Qiu Tan
Background: Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, including early central hypotonia, developmental delay, epilepsy, and autistic behavior. It was previously shown that the partial tetrasomy 15q and partial hexasomy 15q syndromes are usually caused by one and two extra idic(15), respectively...
2018: Molecular Cytogenetics
Vardine Sahakyan, Robin Duelen, Wai Long Tam, Scott J Roberts, Hanne Grosemans, Pieter Berckmans, Gabriele Ceccarelli, Gloria Pelizzo, Vania Broccoli, Jan Deprest, Frank P Luyten, Catherine M Verfaillie, Maurilio Sampaolesi
Neural tube defects (NTDs) are severe congenital abnormalities, caused by failed closure of neural tube during early embryonic development. Periconceptional folic acid (FA) supplementation greatly reduces the risk of NTDs. However, the molecular mechanisms behind NTDs and the preventive role of FA remain unclear. Here, we use human induced pluripotent stem cells (iPSCs) derived from fetuses with spina bifida aperta (SBA) to study the pathophysiology of NTDs and explore the effects of FA exposure. We report that FA exposure in SBA model is necessary for the proper formation and maturation of neural tube structures and robust differentiation of mesodermal derivatives...
February 13, 2018: Scientific Reports
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