American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Natural Ventilation and Air Purification for Effective Removal of Airborne Virus in Classrooms with Heater Operation. [PDF]
Toxics, 2022 Park SH, Yook SJ, Koo HB.
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Dynamic Measurements of a Novel System:Combining Natural Ventilation with Diffuse Ceiling Inlet and Thermally Activated Building Constructions [PDF]
, 2015 In the PSO project 345-061, a novel system solution combining natural ventilation with diffuse ceiling inlet and thermally activated building systems (TABS) has been proposed for cooling and ventilation in Danish office buildings.
Heiselberg, Per Kvols +4 more
core
A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis
Animal Models and Experimental Medicine, EarlyView.A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu +6 more
wiley +1 more source
Experimental study on fire characteristics in cable compartment of utility tunnel with natural ventilation. [PDF]
PLoS One, 2022 Bai ZP, Yao HW, Zhang HH.
europepmc +1 more source
Air Change Rates in Multi-Family Residential Buildings in Northern Portugal [PDF]
, 2003 Existing technical recommendations and standards regarding natural ventilation in Portugal establish one air change rate, ACH, in main rooms (bedrooms and living rooms) and four ACH in service rooms (kitchens and bathrooms).
Boman, Carl-Axel +3 more
core
Animal models of chronic thromboembolic pulmonary hypertension
Animal Models and Experimental Medicine, EarlyView.Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu +5 more
wiley +1 more source
Response to the COVID-19 Pandemic in Classrooms at the University of the Basque Country through a User-Informed Natural Ventilation Demonstrator. [PDF]
Int J Environ Res Public Health, 2022 Rodríguez-Vidal I +5 more
europepmc +1 more source
Natural ventilation induced by solar chimneys [PDF]
, 2010 Natural-ventilation flow through a two-dimensional but realsized square room is investigated numerically, using a commercial Computational Fluid Dynamics (CFD) software package. The flow is induced by a solar chimney positioned on the room's roof, and it
Huynh, P
core