Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units (NICU) of participating hospitals during the 3-year period from January 1, 2000 to December 31, 2002 and diagnosed during their hospital stay as having one or more CHD. Cases with chromosomal abnormalities were excluded. Cases with more than one CHD were assigned one principal malformation. Controls consisted of a random sample of 865 newborns without a CHD admitted to the NICU during the same period. After controlling for confounders, first cousin consanguinity remained significantly associated with an increased risk of CHD: infants born to first cousin marriages had a 1.8 times higher risk of having a CHD diagnosed at birth compared to those born to unrelated parents (95% CI: 1.1-3.1). In particular, first-cousin marriage was a significant risk factor for ventricular septal defect (VSD), atrial septal defect (ASD), hypoplastic left heart (HLH), and single ventricle (SV). No association was found with d-transposition of the great arteries, coarctation, pulmonary atresia (PA), atrioventricular septal defect (AVSD), and tetralogy of Fallot (TOF). The results of this study suggest a familial factor in the multifactorial etiology of CHDs. Additional epidemiologic and family-based genetic studies are needed to understand the complex cause of CHDs

Bilateral simultaneous optic neuritis in childhood systemic lupus erythematosus.

The authors describe an 11-year-old girl with systemic lupus erythematosus (SLE) who developed simultaneous bilateral acute optic neuritis. Severe initial visual loss followed by permanent visual deficit occurred in both eyes despite therapeutic intervention. Recurrence of optic neuritis in one eye caused the vision to deteriorate further. The most probable pathogenesis is occlusive vasculitis involving the small arterioles of the optic nerves

Pediatrician’s perspectives on discharge against medical advice (DAMA) among pediatric patients: a qualitative study

<p>Abstract</p> <p>Background</p> <p>The phenomenon of discharge against medical advice (DAMA) among pediatric patients places pediatricians in a dilemma between respect for the parent’s decision and the desire to provide complete care for the vulnerable child-patient. Little has been written about factors that affect a pediatrician’s decision to allow a parent to discharge his child against medical advice. This qualitative study aims to answer the question of how pediatric residents in a tertiary government hospital perceive and decide on a DAMA request from a parent or primary caregiver.</p> <p>Methods</p> <p>Using a focus group discussion approach, 11 pediatric residents from a government-run tertiary hospital were recruited for the study. The session was digitally recorded and dominant themes were coded and identified.</p> <p>Results</p> <p>There were three prominent themes that arose in the discussion: variability of definitions of DAMA, factors considered before “allowing” the patient to be DAMA, and the implications of a DAMA request on their performance as pediatricians. Definitions vary from one resident to another based on the main reason for DAMA (terminal, cultural, or financial). A conflict was noted in the definition of Home per Request (HPR) versus DAMA. Factors that influence a pediatrician to sign out a case as DAMA include: their ability to do something about the reason given for the DAMA request, the condition of the patient when the DAMA request was given, their impression of the kind of care that the parents provide, and their legal liabilities. Pediatric residents generally maintain a positive attitude towards the parents who request for DAMA and in the event of readmission, accept the patient into their care again.</p> <p>The occurrence of a variety of definitions and subcategories for DAMA may cause confusion among the pediatricians and should be clarified. The familiarity with cultural traditions contributes to their ability to handle situations that may lead to DAMA but this should always be considered in the context of the pediatrician’s legal liabilities. The attitude of being helpful in spite of readmission after DAMA is an important attribute to be encouraged among new trainees.</p> <p>Conclusion</p> <p>In most reviews about the phenomenon of DAMA, patient characteristics have been identified that make them prone to request for DAMA however; physicians also experience a complex process of decision-making in DAMA situations. It is therefore vital for every training institution to include ethical, legal and moral aspects of learning into their training programs especially in dealing with cases of DAMA.</p