A neonate with left pulmonary artery thrombosis and left lung hypoplasia: a case report

<p>Abstract</p> <p>Introduction</p> <p>Spontaneous intrauterine arterial thrombosis and congenital pulmonary hypoplasia are rare conditions and have not been reported to occur together. The literature rather includes two reports of babies with neonatal pulmonary artery occlusion and post-infarction cysts of the lungs.</p> <p>Case presentation</p> <p>We report a case of a live Caucasian male newborn with left lung hypoplasia that occurred in association with left pulmonary artery thrombosis. Despite a critical neonatal course, including extracorporeal membrane oxygenation, this infant is alive and well at 18 months of age without any neurodevelopmental sequelae or reactive airway disease.</p> <p>Conclusion</p> <p>This association suggests the possibility of an intrauterine vascular event between the fifth and eighth weeks of gestation during early pulmonary artery and lung development.</p

Delayed puberty and abnormal anthropometry and its associations with quality of life in young Fontan survivors: A multicenter crossâ sectional study

IntroductionWe sought to evaluate the prevalence of delayed puberty and abnormal anthropometry and its association with quality of life (QoL) in young Fontan survivors.MethodsThis was a crossâ sectional study at 11 Pediatric Heart Network centers. Demographic and clinical data, anthropomety, and Tanner stage were collected. Anthropometric measurements and pubertal stage were compared to US norms. QoL was assessed using Pediatric Quality of Life inventory (PedsQL). Mixed effects regression modeling adjusting for clustering by center was used to evaluate factors associated with abnormal anthropometry and delayed puberty and associations with QoL.ResultsOf the 299 subjects, 42% were female. The median enrollment age was 13.9 years, and the median age at Fontan was 3 years. Fontan survivors had a higher prevalence of short stature relative to normative data (20% vs 5%, P 2 surgeries before Fontan was associated with delayed puberty. Lower family income (<$25 000) and hypoplastic left heart syndrome were associated with lower QoL.ConclusionCompared to the normal population, Fontan survivors have high prevalence of short stature, abnormal BMI and delayed puberty. Abnormal anthropometry, but not delayed puberty, was associated with lower overall QoL and perceived physical appearance scores. Routine screening for abnormal anthropometry, especially in HLHS and in lower socioeconomic status families, should be considered to allow interventions, which might ameliorate the negative psychosocial impact.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/144293/1/chd12597.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/144293/2/chd12597_am.pd

Idiopathic giant right atrial aneurysm

A 2-year-old boy with an incidental finding of massive cardiomegaly on a chest X-ray was diagnosed with a giant right atrial aneurysm upon further investigation with echocardiography. The patient underwent successful surgical reduction of the right atrium and closure of the patent foramen ovale to prevent thromboembolic complications and to lower the risk of atrial arrhythmias. The resected atrium had paper-thin walls and pathological features of interstitial fibrosis with endocardial thickening

Effects of Lifetime History of Use of Problematic Alcohol on HIV Medication Adherence

BACKGROUND: The effects of previous alcohol abuse on antiretroviral therapy (ART) adherence have been less studied. MATERIALS AND METHODOLOGY: Participants were randomized to a 3-month group intervention or an individual-enhanced standard-of-care condition and assessed over 6 months. Individual assessment at baseline, 3, and 6 months was done; interviews included lifetime history of problematic alcohol use. RESULTS: A total of 80 HIV-positive individuals on ART were recruited. In all, 35% of participants reported a history of problematic alcohol use, 37% had a detectable viral load, 55% were nonadherent, and 24% reporting skipping medication in the previous 3 months. There was no association between a history of problematic use and an adherence at any time point, that is, at baseline (t = −.7, P = .47), midpoint (t = −.39, P = .69), and 6-month follow-up (t = −1.2, P = .23). CONCLUSION: Results suggest that a history of problematic alcohol use may not impact ART adherence

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)-enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes