7 results match your criteria: "Bicetre Paris-Saclay University Hospital[Affiliation]"
Characterization of Digestive Manifestations in Patients with Impaired PTH/PTHrP Signaling Disorder/Pseudohypoparathyroidism.
Horm Res Paediatr
August 2024
Pediatric Nutrition and Gastroenterology Department, Reference Center for Rare Disorders, PRADORT (Syndrome de PRADer-Willi et autres Obésités Rares avec Troubles du comportement alimentaire), Trousseau Hospital, AP-HP, Sorbonne University, Paris, France.
Article Synopsis
- Pseudohypoparathyroidism is a rare condition linked to issues with the GNAS gene, leading to resistance to certain hormones and symptoms like short stature, obesity, and ossifications.
- This study aimed to investigate the frequency of digestive problems, particularly constipation, in children with iPPSD types 2 and 3, involving 36 patients aged 2 to 18 years.
- Results revealed that over 60% of participants reported constipation, with only a small percentage finding treatment effective, while other digestive issues like vomiting and food selectivity were also common.
Growth Hormone Therapy: Comparison of Short- and Long-Term Outcomes between Children with Growth Hormone Deficiency and Small for Gestational Age.
Horm Res Paediatr
April 2024
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Article Synopsis
- The study compared the effects of growth hormone therapy on children with growth hormone deficiency (GHD) and those born small for their gestational age (SGA), revealing significant differences in growth outcomes.
- After one year of therapy, children with GHD showed a greater increase in height compared to those with SGA, and this trend continued at their final height.
- The research indicated that short-term height increases were predictive of long-term growth outcomes in GHD patients, but not in SGA patients, suggesting differing responses to growth hormone therapy between these groups.
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
Eur J Endocrinol
October 2023
AP-HP, Department of Endocrinology and Diabetes for Children, Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, 78 Rue du General Leclerc, Le Kremlin-Bicêtre 94270, France.
Article Synopsis
- - This study aimed to analyze the final height (FH) trends in French patients with X-linked hypophosphatemia (XLH) over the past decades, as there was limited data on FH's natural history in this condition.
- - Researchers conducted a retrospective study involving 398 XLH patients, dividing them into three birth groups (1950-1974, 1975-2000, and 2001-2006) to compare their average final heights.
- - Results showed a significant increase in mean FH over the generations, with men still being shorter than women, indicating ongoing challenges in treating XLH. Despite improvements, many patients continue to have short stature, highlighting the need for continued progress.
Growth reference charts for children with hypochondroplasia.
Am J Med Genet A
February 2024
Guy's and St Thomas' NHS Foundation Trust, London, UK.
Article Synopsis
- Hypochondroplasia (HCH) is a rare skeletal condition leading to mild short stature, with limited growth reference charts available for affected children.
- Researchers collected anthropometric data from 188 children diagnosed with HCH across 14 European centers, generating height, weight, and head circumference growth charts using advanced statistical models.
- The resulting growth charts, which include centiles from 2nd to 98th, are crucial for clinical care, helping to identify other health issues impacting growth and serving as benchmarks for future research trials.
Atovaquone exposure and Pneumocystis jirovecii cytochrome b mutations: French data and review of the literature.
Med Mycol
September 2023
Laboratory of Parasitology and Mycology, Brest University Hospital, 29609 Brest, France.
Pneumocystis jirovecii is a transmissible fungus responsible for severe pneumonia (Pneumocystis pneumonia [PCP]) in immunocompromised patients. Missense mutations due to atovaquone selective pressure have been identified on cytochrome b (CYB) gene of P. jirovecii.
View Article and Find Full Text PDFRecombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Eur J Endocrinol
July 2023
Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.
Article Synopsis
- Maternal inactivating GNAS mutations cause pseudohypoparathyroidism 1A (PHP1A), leading to growth issues, hormone resistance, and other physical symptoms in affected individuals.
- A study examined the effects of recombinant human growth hormone (rhGH) on growth in 190 patients, comparing those who received treatment to untreated controls to evaluate height outcomes.
- Results showed that rhGH significantly improved height in treated patients after 1 and 3 years, highlighting its potential benefits, but further research is needed to ensure long-term safety and effectiveness.
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.
J Endocrinol Invest
August 2023
AP-HP, Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, Bicêtre Paris-Saclay University Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin-Bicêtre, France.
Introduction: Severe short stature is a feature of acrodysostosis, but data on growth are sparse. Treatment with recombinant human growth hormone (rhGH) is used in some centers to increase final height, but no studies have been published so far. Our objective was to conduct a multicenter, retrospective, cohort study to investigate growth in individuals with both types of acrodysostosis, treated with rhGH or not; we used the new nomenclature to describe acrodysostosis, as this disease belongs to the large group of inactivating PTH/PTHrP signaling disorders (iPPSD); acrodysostosis refers to iPPSD4 (acrodysostosis type 1 due to PRKAR1A mutations) and iPPSD5 (acrodysostosis type 2, due to PDE4D mutations).
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