With significant improvements in longevity, women with cystic fibrosis are increasingly likely to consider pregnancy and parenthood. This article reviews the literature relating to medical and psychosocial research that informs the decision-making process these women undertake.
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http://dx.doi.org/10.12968/hmed.2009.70.11.45053 | DOI Listing |
Adv Biotechnol (Singap)
June 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong, 510275, China.
Autosomal dominant polycystic kidney disease (ADPKD) is a dominant genetic disorder caused primarily by mutations in the PKD1 gene, resulting in the formation of numerous cysts and eventually kidney failure. However, there are currently no gene therapy studies aimed at correcting PKD1 gene mutations. In this study, we identified two mutation sites associated with ADPKD, c.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Service de Physiologie Pédiatrique-Centre du Sommeil-CRMR Hypoventilations Alvéolaires Rares, INSERM NeuroDiderot, Université Paris-Cité, AP-HP, Hôpital Robert Debré, Paris, France.
Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of General Surgery, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Gallbladder torsion (GT), characterized by the axial rotation of the cystic duct and cystic artery, is a critical condition that predominantly affects elderly women and is infrequently observed in children. Chronic cholecystitis associated with incomplete GT is a particularly rare phenomenon. This article presents a pediatric case of chronic cholecystitis associated with incomplete GT.
View Article and Find Full Text PDFJ Hepatobiliary Pancreat Sci
January 2025
Department of Neonatal Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Background/purpose: Fetal hilar cyst is primarily diagnosed as two diseases after birth, cystic biliary atresia (CBA) and choledochal cyst (CC). The aim of our study was to explore more reliable indicators in early differential diagnosis of these cysts.
Methods: We recruited a total of 50 cases with a prenatal diagnosis of hepatic cyst at three centers, and patients were divided into a CBA group (n = 16) and CC group (n = 34) according to postnatal intraoperative diagnosis.
ERJ Open Res
January 2025
B. Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
https://bit.ly/45DjFw9.
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