Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]
, 2020 BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R +5 more
core +1 more source
Slovenska pediatrija, 2022 Hypocalcaemia is a common disorder of calcium and phosphate metabolism in children, especially in newborns. It is often asymptomatic; clinical signs and symptoms are dependent on the age of the child.
Tina Svetlik +2 more
doaj +1 more source
Hypocalcaemia following denosumab in prostate cancer: A clinical review
Clinical Endocrinology, 2020 Denosumab is often used in men with advanced prostate cancer to prevent skeletal‐related events, but can be associated with severe hypocalcaemia. Our objective was to review the pathophysiology, identify risk factors and provide recommendations for ...
Lik-Hui Lau +7 more
semanticscholar +1 more source
Risk factors for hypocalcaemia after completion hemithyroidectomy in thyroid cancer
Swiss Medical Weekly, 2017 BACKGROUND Hypocalcaemia (HC) is the most common complication after thyroid surgery in differentiated thyroid cancer and leads to a prolongation of the hospital stay.
Baktash Aqtashi +5 more
doaj +1 more source
22q11.2 deletion syndrome [PDF]
, 2015 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S. +11 more
core +1 more source
Ventricular response during lungeing exercise in horses with lone atrial fibrillation [PDF]
, 2013 Reasons for performing the study Atrial fibrillation (AF) is the most important dysrhythmia affecting performance in horses and has been associated with incoordination, collapse and sudden death.
De Clercq, Dominique +5 more
core +2 more sources
Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene
BMJ Case Reports, 2020 Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (CASR) gene. We present two cases of two asymptomatic women (50-year-old—case 1 and 25-year-old—case 2), referred ...
V. Gomes +3 more
semanticscholar +1 more source
Allelic variations in coding regions of the vitamin D receptor gene in dairy cows and potential susceptibility to periparturient hypocalcaemia [PDF]
, 2012 Periparturient hypocalcaemia (milk fever) is a disorder of Ca metabolism in dairy cattle primarily affecting multiparous cows. The major reasons for the rapid decrease of blood Ca concentration after calving are the prompt increase of Ca secretion into ...
Deiner, Carolin +7 more
core +1 more source
Increased Mortality and Morbidity in Patients with Chronic Hypoparathyroidism:A population based study [PDF]
, 2018 A population based study was undertaken to determine the mortality and morbidity for people with hypoparathyroidism compared to the general ...
Abraham, Kirstin J. +4 more
core +2 more sources
Animal Research and One Health, EarlyView.The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem +5 more
wiley +1 more source