Results 121 to 130 of about 58,889 (281)

Oral manifestations of nine individuals with Williams syndrome. A case series

Special Care in Dentistry, Volume 44, Issue 2, Page 438-449, March/April 2024.
Abstract Aims Williams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been sufficiently described and, therefore, the aim of the current study was to present the clinical ...
Konstantina Vavetsi, Olga Panagopoulou, Panagiotis Koromantzos, Ηelen Fryssira, Spyridon A. Bobetsis, Dimitris Emmanouil, Yiorgos A. Bobetsis   +6 more
wiley   +1 more source

PATHOPHYSIOLOGY, INVESTIGATIONS AND TREATMENT OF PATIENTS WITH PULMONIC STENOSIS: A REVIEW ARTICLE [PDF]

, 2022
Background: Most patients with pulmonic stenosis have benign disease. While problems and new-onset symptoms in adults are usually non-life-threatening following the newborn period, they might occur in adults and necessitate attention.
ABD AL-RAZIK, ASHRAF HAMADA, ADEL GAMIL, MOHAMED, ELSAKA, OMAR, HISHAM, DALIA, NOURELDEAN, MONEER AYMAN, TAREK GHAZALI, MOSTAFA   +5 more
core   +1 more source

Williams-Beuren syndrome: a rare presentation of aortic hypoplasia [PDF]

, 2020
William-Beuren syndrome (WBS) is a rare genetic disorder resulting from a micro-deletion of the elastin gene located on the long arm of chromosome 7 (7q11.23).
Karim, N, Quadros, D.S., Sattar, F.A.A.
core   +2 more sources

Updated EUROCAT guidelines for classification of cases with congenital anomalies

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner‐Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne   +7 more
wiley   +1 more source

Врожденный надклапанный стеноз аорты: результаты хирургического лечения [PDF]

, 2021
Цель. Надклапанный стеноз аорты (НСА) – это вариант комплексной аномалии корня аорты. С целью восстановления геометрии, а также сохранения функции аортального клапана были предложены техники симметричной пластики двух- и трех синусов аорты.
Кептанару, Эдуард, Корча, Василе , Малыга, Оксана , Манюк, Ливиу, Репин, Олег , Стрымбопол, Панфилий , Фрунзе, Думитру   +6 more
core   +1 more source

A new technological system to revolutionize the management of valvular heart diseases: transcatheter aortic valve for the treatment of aortic stenosis [PDF]

arXiv, 2019
The goal of this study is a technology analysis of a revolution for the management of valvular heart diseases given by new technological system based on transcatheter artificial aortic valve, a delivery catheter and a loading system for the treatment of aortic stenosis (a narrowing of the aortic valve because of calcium build up that restricts blood ...
arxiv  

Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

Clinical Case Reports, Volume 12, Issue 2, February 2024.
Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes. Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment ...
Ryosuke Tani, Keiji Matsunaga, Yuta Toda, Tomoko Inoue, Hai Ying Fu, Tetsuo Minamino   +5 more
wiley   +1 more source

Cardiac outcomes in adults with supravalvar aortic stenosis [PDF]

, 2017
Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population.
Beauchesne, Luc, Deanfield, John E., Golovatyuk, Vasilisa, Greutmann, Matthias, Hoffmann, Andreas, Kaemmerer, Harald, Mebus, Siegrun, Oechslin, Erwin N., Salehian, Omid, Schuler, Pia K., Sharma, Nakul Chander, Silversides, Candice K., Tobler, Daniel, Vonder Muhll, Isabelle   +13 more
core  

Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling [PDF]

, 2007
Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay.
Abraham, Alderton, Alderton, Amenta, Bakhshi, Cardoso, Cardoso, Carr, Chen, Cortez, Cox, Crisponi, De Baere, de Ru, Dierov, Ellison, Fang, Fernandez-Capetillo, Girard, Johanna M. van Hagen, Johnson, Kim, Leventer, Lewis, Liu, Liu, Lupski, Mark O’Driscoll, Noskov, O’Driscoll, O’Driscoll, O’Driscoll, Page, Penny A. Jeggo, Petermann, Redon, Rogers, Seckel, Semmekrot, Shaw-Smith, Sheen, Shiloh, Shizuyo, Stiff, Tassabehji, Tassabehji, Thornburg, Toyo-oka, Wang, William B. Dobyns, Wu, Yao, Yingling, Zachos, Zou, Zou, Zou   +56 more
core   +3 more sources

Utility of Pulmonary Angiography by 128‐Slice Computed Tomographic Scanner in Diagnosis of Tetralogy of Fallot Cases

Case Reports in Radiology, Volume 2024, Issue 1, 2024.
Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four classical features (ventricular septal defect, overriding of aorta, hypertrophy of right ventricular hypertrophy, and right ventricular outflow tract obstruction), but the clinical ...
Abhishek Dwivedi, Ankur Sharma, Rachit Sharma, Prateek Awasthi, Satveer Singh Choudhary, Daniel P. Link   +5 more
wiley   +1 more source