Results 31 to 40 of about 26,309 (240)

Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo

The Pan African Medical Journal, 2013
We describe the first Congolese case of Greenberg Skeletal Dysplasia. Were noted at birth a congenital hydrops, a chondrodystrophy, a severe hypoplastic face as well as an ulnar (postaxial) hexadactyly on all four limbs.
Toni Kasole Lubala, Nina Lubala, Arthur Ndundula Munkana, Adonis Muganza Nyenga, Augustin Mulangu Mutombo   +4 more
doaj   +1 more source

PREGNANCY OUTCOMES OF NONIMMUNE HYDROPS FETALIS

, 2023
<p>Hydrops fetalis is a rare and extremely dangerous condition that often results in intrauterine fetal death. For reasons of development, it is divided into two categories: immune, which is caused by incompatibility of the Rh factor or the ABO ...
Yusupbaev R.B., Pulatova G.A.
core   +1 more source

Development and Characteristics of Hearing Loss With the Progression of Endolymphatic Hydrops

Ear, Nose & Throat Journal
Objectives This study aims to explore how patients’ hearing loss developed with the progression of endolymphatic hydrops and the characteristics of hearing loss at different stages. Materials and Methods We collected 73 patients with definite or possible
Yue Niu MD, Wei Chen MD, Mengyan Lin MD, Yan Sha MD   +3 more
doaj   +1 more source

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Medicina, 2021
Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome.
Tiberiu Georgescu, Viorica Radoi, Micaela Radulescu, Aurora Ilian, Oana Daniela Toader, Lucian G. Pop, Nicolae Bacalbasa   +6 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Advanced Imaging of the Vestibular Endolymphatic Space in Ménière's Disease

Frontiers in Surgery, 2021
The diagnosis of “definite” Méniére's disease (MD) relies upon its clinical manifestations. MD has been related with Endolymphatic Hydrops (EH), an enlargement of the endolymphatic spaces (ES) (cochlear duct, posterior labyrinth, or both).
Diego Zanetti, Diego Zanetti, Giorgio Conte, Elisa Scola, Silvia Casale, Giorgio Lilli, Giorgio Lilli, Federica Di Berardino, Federica Di Berardino   +8 more
doaj   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

Journal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn, Wibhasiri Srisuwan, Sitthichai Panyasai   +2 more
wiley   +1 more source

Cervical VEMP tuning changes by Meniere's disease stages

Laryngoscope Investigative Otolaryngology, 2019
Objective To determine if changes in cervical vestibular‐evoked myogenic potential (cVEMP) testing reflect the different stages of cochlea‐saccular hydrops in Meniere's disease (MD). Methods This is a case‐control retrospective series.
Simon I. Angeli, Stefania Goncalves
doaj   +1 more source

Hydrops as the presenting sign and “inverted bell sign” as a diagnostic sign of atypical pellucid marginal degeneration

TNOA Journal of Ophthalmic Science and Research, 2021
To report a case of, atypical pellucid marginal degeneration (PMD) with hydrops and to describe the inverted bell sign as the diagnostic feature in topography. A 40-year-old male presented to us with acute pain, redness, and loss of vision.
Venugopal Anitha, Meenakshi Ravindran, Aditya Ghorpade   +2 more
doaj   +1 more source

A new snake of the genus hydrops from colombia [PDF]

, 1944
While in Popayán recently Mr. F. C. Lehmann showed me the snakes in his care in the collection of the University of Cauca. Among them was a Hydrops which was taken in swampy terrain in the vicinity of the city (1760 m.) As Hydrops was supposed to be ...
Dunn, Emmett Reid
core