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Intrahepatic portosystemic shunt: salvage mechanism for oligohydramnios complicating fetal growth restriction.
Ultrasound Obstet Gynecol
January 2025
Ultrasound Unit, Helen Schneider Hospital for Women, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Objective: Portosystemic shunts in growth-restricted fetuses are more common than previously thought. We aimed to describe fetuses with growth restriction and transient oligohydramnios in which a congenital intrahepatic portosystemic shunt (CIPSS) was noted during follow-up.
Methods: This was a retrospective study of all fetuses diagnosed with growth restriction and transient oligohydramnios during a 5-year period in a large tertiary referral center.
Plasma amino acid profiles of dogs with the hepatocutaneous syndrome and dogs with other chronic liver diseases.
J Vet Intern Med
January 2025
Cummings School of Veterinary Medicine at Tufts University, North Grafton, Massachusetts, USA.
Background: Dogs with hepatocutaneous syndrome (HCS) have marked plasma hypoaminoacidemia, but its occurrence in dogs with chronic liver diseases not associated with HCS (non-HCS CLD) is unknown.
Objectives: To determine if plasma hypoaminoacidemia occurs in dogs with non-HCS CLD, compare plasma amino acid (PAA) profiles between dogs with non-HCS CLD and HCS, and define a sensitive and specific PAA pattern for diagnosing HCS.
Animals: Data were collected from client-owned dogs, a prospective cohort of 32 with CLD and 1 with HCS, and a retrospective cohort of 7 with HCS.
An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFAbnormal Venous Flow in Pregnant Women with Mild Right Ventricular Dysfunction in Repaired Tetralogy of Fallot: A Clinical Model for Organ Dysfunction in Preeclampsia.
J 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 PDFSiblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
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