A rare association of crossed fused renal ectopia

BACKGROUND: Thrombocytopenia and absent radius syndrome (TAR) is a rare genetic disorder. It is an autosomal recessive disorder characterised by radial aplasia and thrombocytopenia that may have additional anomalies. We report a case of TAR syndrome with crossed fused renal ectopia. This anomaly has not been previously reported in association with TAR syndrome. CASE PRESENTATION: A 24 years old female with Thrombocytopenia and absent radius syndrome admitted with pelvic fracture was investigated for recurrent urinary tract infections. Abdominal ultrasonography could not visualise the kidney on right side. Further extensive investigations in the form of intravenous urography (IVU), Magnetic resonance imaging (MRI) and renal isotope scans revealed a crossed fused renal ectopia. CONCLUSION: This report describes the new finding of a crossed fused renal ectopia associated with TAR syndrome that has not been reported before in the literature. Ectopic kidneys have increased susceptibility to develop complications like urinary infections, urolithiasis, and abdominal mass. There is a reported case of TAR syndrome with renal anomaly that developed Wilm's tumor. Finding of crossed fused renal ectopia warrants complete urologic investigation to rule out surgically correctable pathology in the urinary tract

Preterm low birthweight and the role of oral bacteria

Preterm and low birthweight (PTLBW) continues to be a major cause of mortality and morbidity across the world. In recent years, maternal periodontal disease has been implicated as a risk factor for adverse pregnancy outcomes. There is conflicting evidence to support such an outcome as illustrated by descriptive, case control and randomised controlled trials involving pregnant women from across the world, using different measurement tools to determine the level of periodontal disease. Whilst considering the literature, there is evidence for both arguments, based on the effect of periodontal inflammatory by products. Bacteria associated with periodontal disease are not dissimilar to those known to be associated with genito-urinary bacterial infections and adverse pregnancy outcomes. Several groups have demonstrated the apparent translocation of Fusobacterium nucleatum, Prevotella nigrescens, Prevotella intermedia, Porphyromonus gingivalis, Treponema denticola to the foetal placental unit whereby a maternal or foetal response has been detected resulting in premature birth or low birthweight. The normal process of parturition involves a cascade of events including a build-up of inflammatory mediators as linked to inflammation, whereby the maternal environment becomes hostile and threatens the well-being of the infant, and the foetus expelled. The question remains therefore, is there a greater risk of delivering a PTLBW infant when the mother has detectable periodontal disease, or is the release of inflammatory mediators and their translocation via the haematogenous route sufficient to induce a poor pregnancy outcome? The data investigated would suggest that there is a positive outcome when certain oral gram-negative bacteria create a cumulative effect sufficient to trigger early delivery, which represents the final straw to result in preterm or low birthweight delivery. There is equally sufficient epidemiological evidence that does not support this outcome, but it is agreed that maintaining oral health during pregnancy is beneficial to the mother and her infant

Screening and Intervention for Alcohol Problems: A National Survey of Primary Care Physicians and Psychiatrists

OBJECTIVE: To describe adult primary care physicians' and psychiatrists' approach to alcohol screening and treatment, and to identify correlates of more optimal practices. DESIGN: Cross-sectional mailed survey. PARTICIPANTS: A national systematic sample of 2,000 physicians practicing general internal medicine, family medicine, obstetrics-gynecology, and psychiatry. MEASUREMENTS: Self-reported frequency of screening new outpatients, and treatment recommendations in patients with diagnosed alcohol problems, on 5-point Likert-type scales. MAIN RESULTS: Of the 853 respondent physicians (adjusted response rate, 57%), 88% usually or always ask new outpatients about alcohol use. When evaluating patients who drink, 47% regularly inquire about maximum amounts on an occasion, and 13% use formal alcohol screening tools. Only 82% routinely offer intervention to diagnosed problem drinkers. Psychiatrists had the most optimal practices; more consistent screening and intervention was also associated with greater confidence in alcohol history taking, familiarity with expert guidelines, and less concern that patients will object. CONCLUSIONS: Most primary care physicians and psychiatrists ask patients about alcohol use, but fewer use recommended screening protocols or offer formal treatment. A substantial minority of physicians miss the opportunity to intervene in alcohol problems. Efforts to improve physicians' screening and intervention for alcohol problems should address their confidence in their skills, familiarity with expert recommendations, and beliefs that patients object to their involvemen

Is Tourette's syndrome an autoimmune disease?

We provide a review of recent research findings which support the involvement of autoimmunity in childhood-onset tic disorders, in particular the presence of antineuronal autoantibodies, D8/17 B lymphocyte overexpression, a marker of chorea associated with streptococcal infection, and possible beneficial effects of immunomodulatory intervention. One of the most controversial areas in this field is the validity of the proposed PANDAS concept. Some researchers have delineated a putatively unique subgroup of patients, from the spectrum of illness encompassing Tourette's syndrome and obsessive-compulsive disorder (OCD), whose tics and obsessive-compulsive symptoms are shown to arise in response to beta-hemolytic streptococcal infections. They designated it by the term pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Herein we additionally present pros and cons concerning the concept of PANDAS. Finally, recommendations for future research directions are given