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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
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 PDFThe fetal cerebral Doppler in the last weeks of pregnancy can select very small fetuses unlikely to present intrapartum compromise.
J Matern Fetal Neonatal Med
December 2025
Fetal Medicine Unit, St George's Hospital, London, UK.
Objective: To evaluate whether, in late pregnancy, the cerebral Doppler can identify very small fetuses that are less likely to experience intrapartum compromise (IC).
Material And Methods: This was a retrospective study of 282 singleton pregnancies that underwent an ultrasound scan at 32 + 0- 40 + 6 weeks and were delivered after induction, or spontaneous onset of labor. Very small fetuses were defined as fetuses with estimated weight less than the 3rd centile.
Three-dimensional sonographic findings of diprosopus: a case report and literature review.
BMC Pregnancy Childbirth
January 2025
Department of Obstetric and Gynecological Ultrasound, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.
Background: Diprosopus is one of the rarest anomalies. It typically manifests as bilateral alterations and often involves anomalies within the cranial structures. In this report, we present a case of a fetus with diprosopus diagnosed prenatally.
View Article and Find Full Text PDFOptimizing data collection for obstetrical ultrasound research at the primary health care level in rural Uganda.
Glob Health Action
December 2024
Pediatrics, The University of Vermont, University of Vermont Medical Center, Burlington, VT, USA.
Background: Neonatal and maternal mortality remains high in low- and middle-income countries (LMIC), especially in sub-Saharan Africa. Quality data collection is crucial to understand the magnitude of these problems and to measure the impact of interventions aimed at improving neonatal and maternal mortality. However, data collection in the low-income country setting, especially in rural areas, has been a challenge for researchers, policy makers, and public health officials.
View Article and Find Full Text PDFPrecision fetal cardiology detects cyanotic congenital heart disease using maternal saliva metabolome and artificial intelligence.
Sci Rep
January 2025
Department of Obstetrics and Gynecology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Prenatal sonographic diagnosis of congenital heart disease (CHD) can lead to improved morbidity and mortality. However, the diagnostic accuracy of ultrasound, the sole prenatal screening tool, remains limited. Failed prenatal or early newborn detection of cyanotic CHD (CCHD) can have disastrous consequences.
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