Results 111 to 120 of about 135,725 (342)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro +4 more
wiley +1 more source
Physiological care for the mucosa of the nose: prevention of ARVI
Медицинский совет, 2019 The article highlights the role and place of elimination and irrigation therapy in the treatment and prevention of acute respiratory infections in children.
N. E. Payganova, Kh. Sh. Davudov
doaj +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek +18 more
wiley +1 more source
An Overview of Emergencies in Otorhinolaryngology at a Tertiary Care Centre, Telangana
, 2021 G. Sreekanth +3 more
openalex +2 more sources
Influence of hydroxyethyl starch (6% HES 130/0.4) administration on hematology and clinical chemistry parameters [PDF]
, 2008 Background: The chemical inertness of hydroxyethyl starch (HES) might cause interferences of the colloid with a variety of laboratory tests. We aimed to evaluate potential influences of HES 130/0.4, the newest HES type, on several common hematology and ...
Dieplinger, Benjamin +7 more
core +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Eosinophilic chronic rhinosinusitis with nasal polyps (eCRSwNP) is characterized by persistent sinonasal inflammation and marked eosinophilic infiltration. Although the relationship between eosinophils and NP formation has been extensively studied, the mechanisms governing eosinophil transepithelial migration into the nasal mucosa ...
Yeong‐In Jo +7 more
wiley +1 more source
Disease phenotype-driven alterations in cellular and humoral immunity during chronic rhinosinusitis
Инфекция и иммунитетHuman nasal cavity and paranasal sinuses play a crucial role in the physiological processes in vivo that accounts for the constant attention of doctors of many specialties to the state and pathological changes in the respiratory compartments noted above.
Olga V. Smirnova, A. A. Sinyakov
doaj +1 more source