Results 131 to 140 of about 489,693 (333)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Arterial Blood Gas Tensions in Acute Disease of Lower Respiratory Tract in Infancy [PDF]

, 1963
E. O. R. Reynolds
openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Ammonia induce lung tissue injury in broilers by activating NLRP3 inflammasome via Escherichia/Shigella

Poultry Science, 2020
Respiratory tract diseases are closely related to atmosphere pollution. Ammonia is one of the harmful pollutants in the atmosphere environment, which has a great threat to human and animal respiratory tract health, but the mechanism of causing diseases ...
Qing Xiu Liu, Ying Zhou, Xiu Mei Li, Dan Dan Ma, Shuang Xing, Jing Hai Feng, Min Hong Zhang   +6 more
doaj  

Impact of the 10-valent pneumococcal conjugate vaccine on the incidence of respiratory and ENT diseases and antibiotic consumption in children under 5 years of age in Barnaul [PDF]

Клиническая микробиология и антимикробная химиотерапия, 2018
Objective. To evaluate epidemiological efficacy of the 10-valent pneumococcal conjugated vaccine (PCV10) as assessed by the number of episodes of respiratory tract and ENT diseases and by the number of antibiotic courses prescribed for those diseases in
Kozyanova Yu.A., Safyanova T.V.
doaj  

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

ANTlBIOTlC THERAPY OF SPECIFIC NON-TUBERCULOUS INFECTlOUS DISEASES OF THE LOWER RESPIRATORY TRACT [PDF]

, 1965
결괴플 기다려는, 환지 만연 진얀이 관 성히고, 심하 상태가   +2 more
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Air pollution and cardiovascular and respiratory disease: Rationale and methodology of CAPACITY study

ARYA Atherosclerosis, 2017
BACKGROUND: Considering the high level of air pollution and its impact on health, we aimed to study the correlation of air pollution with hospitalization and mortality of cardiovascular (CVD) and respiratory diseases (ResD) (CAPACITY) to determine the ...
Katayoun Rabiei, Sayed Mohsen Hosseini, Erfan Sadeghi, Tohid Jafari-Koshki, Mojtaba Rahimi, Mansour Shishehforoush, Ahmadreza Lahijanzadeh, Babak Sadeghian, Elham Moazam, Mohammad Bagher Mohebi, Victoria Ezatian, Nizal Sarrafzadegan   +11 more
doaj  

Follicular Bronchiolitis in a Nigerian Female Child: A Case Report and Review of the Literature

Case Reports in Pediatrics, 2016
Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital admissions for lower respiratory tract infections in South West Nigeria, most of which are due to respiratory syncytial virus (RSV) infection.
Nzechukwu Zimudo Ikeri, Godwin O. Umerah, Christopher Emeka Ugwu, Olugbenga Olusoji, Adekunle Adeyomoye, Ekanem Ekure, Adetola Olubunmi Daramola   +6 more
doaj   +1 more source