Gastroschisis, a parietal anomaly belonging to median celosomia, is characterized by right lateral-umbilical evisceration. Its frequency, estimated at 1 birth in 2700, shows an excellent final prognosis conditioned by the digestive ischemic damage found at birth whose therapeutic management is often limited. No genetic cause is currently incriminated in the genesis of gastroschisis, except syndromic group associations. In this original observation, we report the case of a couple with a normal history whose obstetric management of the first pregnancy showed a fetus with gastroschisis at 12 WG, with primary closure at birth. The same couple began a second pregnancy in post-partum with on the first-quarter echography showing gastroschisis. A boy was delivered vaginally with extraction, who died of a multivisceral failure at 48h of life. Although no genetic factor is currently identified in gastroschisis onset and although only environmental factors such as illicit substance consumption, young maternal age, and socio-economic precariousness explain the genesis of this parietal anomaly, our observation is original because of the recurrence of this anomaly in the same woman during two successive pregnancies. The early characteristic of the second pregnancy, starting as soon as menstruation returned, can explain the organogenesis of this second gestation in a similar environmental context.
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http://dx.doi.org/10.1016/j.arcped.2015.07.011 | DOI Listing |
J Neurol
January 2025
Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.
Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.
Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.
Thromb Res
January 2025
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:
Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.
Methods: Clinical symptoms were recorded, and physical examinations conducted.
Taiwan J Obstet Gynecol
January 2025
Genetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, China. Electronic address:
Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI).
Case Reports: The ultrasound examination of the patient revealed a mass in fetal left intracranial cavity. Repeated subsequent MRI detected an evolving mass in the left frontal parietal lobe.
Biol Psychiatry Cogn Neurosci Neuroimaging
January 2025
School of Biomedical Sciences and Engineering, South China University of Technology, Guangzhou 511442, China; National Engineering Research Center for Tissue Restoration and Reconstruction, South China University of Technology, Guangzhou 510006, China; Guangdong Province Key Laboratory of Biomedical Engineering, South China University of Technology, Guangzhou 510006, China; Department of Nuclear Medicine and Radiology, Institute of Development, Aging and Cancer, Tohoku University, Sendai 980-8575, Japan. Electronic address:
Background: The detection of abnormal brain activity plays an important role in the early diagnosis and treatment of major depressive disorder (MDD). Recent studies have shown that the decomposition of the electroencephalography (EEG) spectrum into periodic and aperiodic components is useful for identifying the drivers of electrophysiologic abnormalities and avoiding individual differences.
Methods: This study aimed to elucidate the pathologic changes in individualized periodic and aperiodic activities and their relationships with the symptoms of MDD.
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