Results 61 to 70 of about 223,393 (295)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
Hyperbaric treatment for acute carbon monoxide poisoning in a patient with beta-thalassemia. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ)Carbon monoxide (CO) poisoning is a rare but potentially devastating event and remains the most common cause of poisoning in developed countries. Diagnosis is often missed or delayed, as the clinical presentation can be highly variable and characterized ...
V. Zanon +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe +22 more
wiley +1 more source
BMC AnesthesiologyBackground Patients undergoing non-elective surgery frequently require rapid sequence induction (RSI) because of concerns related to recent oral intake, impaired gastric emptying, or uncertain fasting status.
Nguyen Duc Lam +6 more
doaj +1 more source
The Safety of Hyperbaric Oxygen Therapy in the Treatment of Covid-19
Неотложная медицинская помощь, 2020 Relevance. Acute respiratory infection COVID-19 caused by the SARS-CoV-2 (2019-nCov) coronavirus is severe and extremely severe in 15—20% of cases, which is accompanied by the need for respiratory support.
O. A. Levina +9 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
National survey on the use of neuromuscular blockers and reversal in adult, pediatric and pregnant patients. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ)Introduction This study presents the findings of an Italian investiga- tion through SIAATIP - Italian Society of Anesthesia, Analgesia and Pediatric Intensive Care - aimed at gather- ing data on current anesthetic practices related to the use of ...
A. Federici +9 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source