Objective: The great potential of MRI for assessing gastrointestinal abnormalities in fetuses has been described. T1-weighted images may add additional information to T2-weighted images in diagnosing fetal gastrointestinal abnormalities. The objective of this study was to assess the performance of a 3D volumetric interpolated breath-hold sequence (VIBE) in evaluating the normal and abnormal fetal gastrointestinal tract.
Conclusion: VIBE provides high-quality T1-weighted and 3D MR colonography images for the evaluation of the normal and abnormal gastrointestinal tract in fetuses, and 3D MR colonography provides excellent delineation of the meconium.
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http://dx.doi.org/10.2214/AJR.07.2063 | DOI Listing |
Eur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Cardiology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Pregnant women with congenital heart disease carry a high risk of complications, especially when cardiac function is suboptimal. Increasing evidence suggests that impaired right ventricular (RV) function has a negative effect on placental function, possibly through venous congestion. We report a case series of hepatic and renal venous flow patterns in pregnant women with right ventricular dysfunction after repaired Tetralogy of Fallot (ToF), relative to those observed in normal pregnancy and preeclampsia.
View Article and Find Full Text PDFJ Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFJ Clin Med
December 2024
The Department of Dentofacial Orthopaedics and Orthodontic, Wroclaw Medical University, 50-425 Wroclaw, Poland.
Ankyloglossia is a congenital, abnormally short, thickened, or tight lingual frenulum that restricts tongue mobility, which may impair the development of the lower face morphology, namely the occlusion and skeleton. The aim of this study was to evaluate whether and how the lingual frenotomy benefits the occlusion and lower face skeleton development. The authors, independently and in duplication, performed searches of PubMed, Cochrane Library, Medline, Web of Science, and Embase, introducing the following keywords: tongue tie, ankyloglossia, and short lingual frenum/frenulum, combined with malocclusion, lower face skeleton, and hyoid bone.
View Article and Find Full Text PDFSensors (Basel)
January 2025
Department of Electrical and Information Engineering (DEI), Polytechnic University of Bari, Via E. Orabona, 4, 70125 Bari, Italy.
Abnormal locomotor patterns may occur in case of either motor damages or neurological conditions, thus potentially jeopardizing an individual's safety. Pathological gait recognition (PGR) is a research field that aims to discriminate among different walking patterns. A PGR-oriented system may benefit from the simulation of gait disorders by healthy subjects, since the acquisition of actual pathological gaits would require either a higher experimental time or a larger sample size.
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