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Ventricular septal defect with pulmonary arterial hypertension in an infant: Is there something more than what meets the eye?

Ann Pediatr Cardiol

March 2022

Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Insitute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

An 11-month-old girl was detected to have muscular ventricular septal defect with hyperkinetic pulmonary hypertension (PH) was urgently operated upon. On follow-up, her PH worsened, resulting in right ventricular dysfunction and was later detected to have absent portal vein.

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In chronic liver disease, the incidence of cirrhosis is increasing. About 1 million deaths from cirrhosis are reported annually by WHO, occupying the 11th position in the hierarchy of pathologies that cause death (1). The prevalence of cirrhosis is often underestimated based on the fact that one third of the patients are asymptomatic (2).

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Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor Other Hyperkinet Mov (N Y)

September 2020

INSERM, U 1127, CNRS UMR 7225, Faculté de Médecine de Sorbonne Université, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FR.

Background: Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches.

Methods: We first sequenced exons of and in the TS cohort and subsequently sequenced the exome of 12 individuals harboring rare variants in these genes to find additional rare variants contributing to the disorder under the hypothesis of oligogenic inheritance.

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Two Unusual but Treatable Causes of Refractory Ascites After Liver Transplantation.

Cardiovasc Intervent Radiol

December 2015

Department of Radiology, University of Michigan Medical Center, 1500 E. Medical Center Dr., Ann Arbor, MI, 48109, USA.

Refractory ascites (RA) is thought to complicate the postoperative course of 5-7% (Nishida et al. in Am J Transplant. 6: 140-149, 2006; Gotthardt et al.

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Aims: To evaluate the participation of nitric oxide (NO) and prostaglandin (PGI2) on hyperdynamic state in endotoxemia-induced portal hypertension (EIP) induced by chronic endotoxemia.

Methods: The portal pressure (PP) and mean arterial pressure (MAP) were recorded, in vivo before and after administration of L-NAME (NOS inhibitor) and indomethacin (specific blocker of COX). The vasoactive responses to acetylcholine of thoracic rat aortic rings were studied in vitro before and after nitric oxide and cyclooxygenase blockade using multichannel organ bath.

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