Results 161 to 170 of about 935,849 (402)

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

Palivizumab for the Prophylaxis of Respiratory Syncytial Virus Disease: Expert Opinion and Recommendations for the Gulf Cooperation Council Region

Oman Medical Journal
Respiratory syncytial virus (RSV) infection poses a significant health threat to infants and young children. Considering the substantial burden in Gulf Cooperation Council (GCC) countries, prevention of RSV remains a major public health priority ...
Adel S. Alharbi, Abdul Rahman Alnemri, Ahmed Abushahin, Entesar Alhammadi, Huda Sulaiman Mohammed AlDhanhani, Laila Obaid , Mahmoud Saleh ElHalik, Mariam Kh Ayed   +7 more
doaj   +1 more source

CATARRHO-PYOGENIC AND TUBERCULOUS INFECTIONS OF THE LOWER RESPIRATORY TRACT: Being the Bolingbroke Lecture delivered before the South-West London Medical Society, June, 1925, [PDF]

, 1925
H. B. Shaw
openalex   +1 more source

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

A woman with recurrent respiratory tract infections

Pan African Medical Journal, 2020
A 76-year-old caucasian woman who has been repeatedly hospitalized with recurrent respiratory tract infections, presented to the emergency department with fever and productive cough during the last 24 hours. Physical examination revealed tachypnea and crackles at the lower right lobe.
openaire   +5 more sources

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

Lower Respiratory Tract Infections

, 2012
Lower respiratory tract infections are common and are important in the critical care setting either because they precipitate admission to the critical care unit, e.g. severe viral pneumonia or because they complicate the course of a patient with significant underlying disease or following major surgery, e.g. after multiple trauma.
Hilary Humphreys, Mical Paul, Bob Winter
openaire   +2 more sources

Influenza and other Virus Infections of the Respiratory Tract [PDF]

, 1966

openalex   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Respiratory tract infections and its preventive measures among hajj pilgrims, 2010: A nested case control study

International Journal of Preventive Medicine, 2013
Background: Respiratory tract infections are very common among the Hajj pilgrims. Some preventive measures including Influenza vaccination, using face mask and salt water gargling have been considered to control these infections and the reports show ...
Mohammad Hassan Emamian, Ali Mohammad Hassani, Mansooreh Fateh   +2 more
doaj