The A.A. reports a case of cystic congenital linphangioma of the face and neck, recently observed on the Neonatal Intensive Care Unit. The therapeutic approach was very difficult and required three times a surgical menagement because of successively relapses. The control and normalization of the compressive and infective complications due to the massa and its removal were hard too. In spite of some aesthetical problems, the results may be considered satisfactory. Our case enphasizes the intrinsec, complex, therapeutical difficulties of the cystic linphangiomas.
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J 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.
Introduction: A recent scoping review identified histological chorioamnionitis (HCA), small for gestational age (SGA), and bubbly/cystic appearance on chest X-ray (bubbly/cystic CXR) as risk factors for severe bronchopulmonary dysplasia (BPD). To further validate these results, a large-scale database was analyzed.
Methods: This retrospective multicenter cohort study included infants born at <28 weeks' gestational age between 2003 and 2016.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFBMJ Open
January 2025
Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, Australia
Objectives: To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.
Design: A retrospective study over a 5-year period (January 2018-December 2022).
Cureus
December 2024
Internal Medicine, Hospital Distrital Figueira da Foz, Figueira da Foz, PRT.
Cystic cuboid adenomatous malformations (CCAM) are congenital pulmonary lesions, usually benign, that can progress into malignancy. Bronchopulmonary sequestration (BPS) is another type of malformation that consistsof an ectopic pulmonary tissue mass that doesn't participate in blood-gas exchanges, with vascularization provided by anomalous branches of the thoracic aorta. Hybrid lesions are lesions that have histological features of CCAM but with systemic vascularization, a pathognomonic sign of BPS.
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