Results 31 to 40 of about 12,908 (219)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Evaluation of quality of life before and after videothoracoscopic simpathectomy for primary hyperhidrosis

Revista do Colégio Brasileiro de Cirurgiões
Objective: To assess quality of life before and after thoracoscopic sympathectomy for treatment of primary hyperhidrosis.Methods: we conducted an observational, analytical, cross-sectional and quantitative study.
João Batista Baroncello, Layla Regina Zambenedetti Baroncello, Emílio Gabriel Ferro Schneider, Guilherme Garcia Martins   +3 more
doaj   +1 more source

A prospective controlled randomized multicenter study to evaluate the severity of compensatory sweating after one-stage bilateral thoracic sympathectomy versus unilateral thoracic sympathectomy in the dominant side

Contemporary Clinical Trials Communications, 2020
Objective: To evaluate the contribution that unilateral thoracic sympathectomy in dominant side or two-stage bilateral thoracic sympathectomy can have as strategies to reduce the incidence of compensatory sweating after sympathectomy for palmar ...
Niura Noro Hamilton, Miguel Lia Tedde, Nelson Wolosker, Wolfgang William Schmidt Aguiar, Hylas Paiva da Costa Ferreira, Humberto Alves de Oliveira, Alexandre Marcelo Rodrigues Lima, Fernando Luiz Westphal, Marina Varela Braga de Oliveira, Fabio de Oliveira Riuto, Sergio Tadeu Lima F Pereira, Guilherme Cançado Rezende, Caroline Elizabeth Brero Valero, Paulo M. Pego-Fernandes   +13 more
doaj   +1 more source

EVALUATION OF BOTOX TREATMENT FOR PATIENTS WITH PRIMARY AXILLARY HYPERHIDROSIS IN BASRAH [PDF]

Basrah Journal of Surgery, 2014
EVALUATION OF BOTOX TREATMENT FOR PATIENTS WITH PRIMARY AXILLARY HYPERHIDROSIS IN BASRAH Alaa H Al-Farhan MB,ChB, FIBMS, Lecturer Plastic Surgery, Dept. of Surgery, Basrah Medical College, Basrah Iraq.
Alaa H Al-Farhan
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Contemporary and Emerging Therapies in the Management of Refractory Angina: A Clinical Review

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Refractory angina (RA) represents a growing challenge in clinical cardiology, particularly in patients with obstructive coronary artery disease (CAD) who remain symptomatic despite optimal medical therapy and who are not candidates for revascularization.
Alex Angers‐Goulet, Siddhartha Mengi, David Garcia Labbé, Can Manh Nguyen, Jean‐Michel Paradis   +4 more
wiley   +1 more source

The reliability and validity of a developed anxiety scale specific to primary focal hyperhidrosis symptoms

BioPsychoSocial Medicine
Background Patients with primary focal hyperhidrosis (hyperhidrosis) are known to have higher levels of anxiety induced by sweating than those who do not. However, in hyperhidrosis, no scale has been developed to measure anxiety specific to hyperhidrosis
Sayaka Ogawa, Jun Tayama, Hiroyuki Murota, Masakazu Kobayashi, Hirohisa Kinoshita, Seiko Nakamichi   +5 more
doaj   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Cohort study on 20 years’ experience of bilateral video-assisted thoracic sympathectomy (VATS) for treatment of hyperhidrosis in 2431 patients

São Paulo Medical Journal, 2022
BACKGROUND: Primary hyperhidrosis is a condition characterized by excessive sweating, inconsistent with the needs for thermoregulation. OBJECTIVE: To assess the effectiveness and the change in the quality of life of patients undergoing bilateral VATS ...
Nelson Wolosker, José Ribas Milanez de Campos, Paulo Kauffman, Marcelo Fiorelli Alexandrino da Silva, Carolina Brito Faustino, Miguel Lia Tedde, Pedro Puech-Leão, Paulo Manuel Pêgo Fernandes   +7 more
doaj   +1 more source

Evaluation of Quality of Life, Anxiety, and Depression in Patients with Primary Axillary Hyperhidrosis Undergoing Treatment with a Microwave Device: One-year Follow-up

Acta Dermato-Venereologica
Hyperhidrosis is associated with social and emotional stress, affecting quality of life. Microwave energy technology treats primary axillary hyperhidrosis by thermolysis of sweat glands.
Maria Pissa, Rasha Hashem, Alexander Shayesteh, Sarah Wrisley, Emanuela Micu   +4 more
doaj   +1 more source