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Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.
Case Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.
Lancet Haematol
December 2024
Division of Foetal Medicine, Department of Obstetrics, Leiden University Medical Centre, Leiden, Netherlands. Electronic address:
Background: Advances in haemolytic disease of the fetus and newborn have led to numerous treatment options. We report practice variations in the management and outcomes of haemolytic disease of the fetus and newborn in at-risk pregnancies.
Methods: In this international, retrospective, observational cohort study, data from cases with moderate or severe haemolytic disease of the fetus and newborn were retrieved from 31 centres in 22 countries.
Advances in foetal anaesthesia.
Best Pract Res Clin Anaesthesiol
June 2024
Department of Anaesthesiology, UZ Leuven, Department of Cardiovascular Sciences, Group Biomedical Sciences, KU Leuven, Herestraat 49, 3000, Leuven, Belgium. Electronic address:
Article Synopsis
- Advances in antenatal ultrasound have led to earlier detection of congenital anomalies, prompting research into foetal surgery to treat these conditions.
- Surgical interventions can be minimally invasive with local anaesthesia or involve open procedures requiring general anaesthesia to manage pain and optimize conditions.
- While administering anaesthesia directly to the foetus or through the mother can alleviate pain, animal studies suggest potential risks to foetal brain development, complicating its clinical application.
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