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Congenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.
Virchows Arch
January 2025
Division of Pediatric and Perinatal Pathology/Department of Pathology and Laboratory Medicine, Jackson Memorial Hospital Children's Holtz, University of Miami Miller School of Medicine, 1611 NW 12 Ave., Suite 2153, Miami, FL, 33136, USA.
Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFToo Much of a Good Thing: Updated Current Management and Perinatal Outcomes of Polyhydramnios.
J Med Ultrasound
November 2024
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Amniotic fluid assessment is crucial in prenatal ultrasound to monitor fetal conditions, with polyhydramnios, characterized by excessive amniotic fluid, affecting 1%-2% of pregnancies. Polyhydramnios is linked to complications such as placental abruption, preterm labor, congenital anomalies, and postpartum hemorrhage, emphasizing the need for early detection and management. While idiopathic causes account for 60%-70% of cases, other causes include impaired fetal swallowing and increased urine production due to maternal, fetal, and placental conditions.
View Article and Find Full Text PDFAdministration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity.
Calcif Tissue Int
January 2025
Department of Pharmacology, Tokyo Dental College, 2-9-18, Kandamisaki-cho, Chiyoda-ku, Tokyo, 101-0061, Japan.
Hypophosphatasia (HPP) is a congenital bone disease caused by tissue-nonspecific mutations in the alkaline phosphatase gene. It is classified into six types: severe perinatal, benign prenatal, infantile, pediatric, adult, and odonto. HPP with femoral hypoplasia on fetal ultrasonography, seizures, or early loss of primary teeth can be easily diagnosed.
View Article and Find Full Text PDF" " Exploring the Experiences of Black and Hispanic Parents following a Congenital Heart Disease Diagnosis.
AJP Rep
January 2025
Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina.
Congenital heart disease (CHD) is an important contributor to pediatric morbidity and mortality. Unfortunately, disparities in the diagnosis and treatment of CHD exist across racial and ethnic groups. The objective of this study was to share the experiences of Hispanic and Black families with CHD to better understand their needs.
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