Results 51 to 60 of about 2,238,578 (328)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Cushing syndrome in children: Pathophysiology, clinical features, diagnostic and therapeutic strategies

Bioscientific Review, 2023
A rare condition called Cushing disease causes increased morbidity or mortality. Therapeutic methods such as anti-cortisol medications, bilateral adrenalectomy, or radiation procedures may therefore be required to prevent long-term dangers of ...
Sana Ashraf, Dr Shakeela Parveen, Saba Ashraf, Uzma Batool, Mehwish Sultana, Urwah Ishaque, Zainab Shafqat, Saman Shabbir, Zainab Riaz, Zunaira Faiz   +9 more
doaj  

Chirurgie der Hyperthyreose [PDF]

, 1978
Pathophysiologie, Diagnostik, Operationsindikation und Vorbehandlung, chirurgisches Krankengut, Operationsverfahren und Nachbehandlung mit funktionellen Spätergebnissen wurden gezeigt.
Günther, B., Heberer, G., Kiffner, E., Pickardt, C. R., Scriba, Peter Christian, Spelsberg, F.   +5 more
core   +1 more source

Toward a Diagnostic Score in Cushing's Syndrome

Frontiers in Endocrinology, 2019
Cushing's syndrome (CS) is a classical rare disease: it is often suspected in patients who do not have the disease; at the same time, it takes a mean of 3 years to diagnose CS in affected individuals.
Leah T. Braun, A. Riester, A. Osswald-Kopp, J. Fazel, G. Rubinstein, M. Bidlingmaier, F. Beuschlein, M. Reincke   +7 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Ectopic Cushing’s Syndrome as the Initial Presentation of Pulmonary Carcinoid Tumor Managed by Etomidate: A Case Report

Acta Medica Iranica, 2020
Ectopic increase of adrenocorticotropic hormone (ACTH) or ectopic Cushing syndrome is a rare initial presentation of small cell carcinoma and carcinoid tumor of the lung.
Masoud Mohebbi, Shohreh Vojouhi, Seyed Alireza Javadinia, Faeze Keihanian, Mohammad Ali Yaghoubi, Ali Motamedzadeh Torghabeh   +5 more
doaj   +1 more source

11 BETA-HSD1 ENZYME, A NEW POTENTIAL TARGET FOR THE MANAGEMENT OF TYPE 2 DIABETES AND METABOLIC DISORDERS ASSOCIATED WITH OBESITY [PDF]

, 2013
La 11β-hydroxystéroïde déshydrogénase de type 1 (11βHSD1) est une enzyme intervenant dans la transformation de cortisone en cortisol, notamment dans le tissu adipeux et le foie.
BECK, Emmanuel, SCHEEN, André
core  

A Possible Case of Neurogenic Pulmonary Edema in a Sheep following Intracranial Surgery [PDF]

, 2016
A 3-year-old female crossbred sheep weighing 64 kg was anaesthetized for intracranial surgery as a part of a research project. Premedication and induction of anesthesia were uneventful as well as tracheal intubation.
Adami, C, Casoni, D, Giovannini, A E J, Precht, C M   +3 more
core   +2 more sources

Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline.

Journal of Clinical Endocrinology and Metabolism, 2015
OBJECTIVE The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. PARTICIPANTS Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer.
L. Nieman, B. Biller, J. Findling, M. Murad, J. Newell-Price, Martin O. Savage, A. Tabarin   +6 more
semanticscholar   +1 more source