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Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFIs it possible for parents to endure a stillbirth? Initial experiences, perceptions and strategies: individual in-depth interviews in Sweden 2021-2023.
BMC Pregnancy Childbirth
January 2025
Department of Women's and Children's Health, Uppsala University, Uppsala, 751 85, Sweden.
Background: Stillbirth occurs at a rate of 3.0 per thousand in Sweden. However, few studies have focused on the initial experiences of parents facing a stillbirth.
View Article and Find Full Text PDFSucking blister in a newborn: atypical localisation.
BMJ Case Rep
January 2025
Paediatrics, Unidade Local de Saúde São João, Porto, Portugal.
A meticulous examination of the oral cavity is an essential part of the initial newborn assessment. The differential diagnosis can involve benign and self-limiting lesions to those lesions compromising quality of life. We present a clinical case of a newborn born with a purple, hard tumour on the hard palate that spontaneously regressed, being thus compatible with the case of a sucking blister.
View Article and Find Full Text PDFFibrolamellar hepatocellular carcinoma with intrapancreatic nodal metastases masquerading as pancreatic neuroendocrine tumour with hepatic metastases.
BMJ Case Rep
January 2025
General Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India
Fibrolamellar hepatocellular carcinoma (FL-HCC) is a primary liver tumour presenting at a young age. Aggressive surgery of FL-HCC is the mainstay of management unlike other malignancies where metastatic stage precludes curative surgery. There are limited reports of response of FL-HCC to systemic therapies predominantly owing to its rarity.
View Article and Find Full Text PDFOptical spectral transmission to monitor disease activity in arthritis patients: longitudinal follow-up comparison with clinical parameters.
Rheumatology (Oxford)
January 2025
Department of Rheumatology, Acute Rheumatology Centre Rhineland-Palatinate, Bad Kreuznach, Germany.
Objective: To examine the longitudinal associations of optical spectral transmission (OST) with clinical inflammatory arthritis activity markers in order to investigate its potential in monitoring disease activity.
Methods: OST measurements were performed in 1,312 wrist and finger joints of 60 patients with clinical suspicion of inflammatory activity, within the context of known rheumatic inflammatory diseases at two separate time intervals. In each time point, patients underwent additional clinical and laboratory examinations.
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