Providing insights into atherosclerosis: A case of multivessel coronary artery disease with an anomalous straightforward vessel spared from atherosclerosis

Atherosclerotic plaques tend to involve arterial localizations in which blood flow is not laminar due to arterial bends and bifurcations. A 49-year-old man was admitted to hospital with breathlessness and was subsequently diagnosed with left ventricular failure. Coronary angiography revealed three-vessel coronary artery disease and an anomalous extra left anterior descending artery taking off from the right sinus of Valsalva and spared from atherosclerosis. The absence of side branches and the relative lack of bends in arterial geometry were considered to be the cause of resistance to atherosclerosis. The present case identifies local flow conditions as an important factor determining the genesis of atherosclerosis in arterial segments.     

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth,pulmonary hypertension,microcephaly, and spasticity

The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organs, including the lung. The aim of this study was to identify the underlying genetic cause of abnormal lung growth, pulmonary hypertension (PAH), severe microcephaly, and muscle spasticity in a full-term newborn, who died at 4 months of age due to progressively worsening PAH and respiratory failure. Family trio exome sequencing showed a de novo heterozygous nonsense c.1603C>T (p.Arg535*) variant in CTNNB1 and a paternally inherited heterozygous missense c.1198G>A (p.Glu400Lys) variant in TBX4, both predicted to be likely deleterious. We expand the phenotypic spectrum associated with CTNNB1 and TBX4 variants and indicate that they could act synergistically to produce a distinct more severe phenotype. Our findings further support a recently proposed complex compound inheritance model in lethal lung developmental diseases and the contention that dual molecular diagnoses can parsimoniously explain blended phenotypes.     

Malaria problem in Afghanistan: malaria scanning results of the Turkish medical aid group after the war.

Malaria is a parasitic infection caused by Plasmodium species and it is especially seen in tropical and subtropical areas. We aimed to evaluate the effects of the infection in Afghanistan, which is an endemic place for malaria and had severe socio-economical lost after the war. We also compared these data with the ones that were recorded before the war. Blood samples were taken from 376 malaria suspected patients who come to the health center, established by the medical group of Istanbul Medical Faculty in 2002, Afghanistan. Blood samples were screened using the OPTIMAL Rapid Malaria Test and Giemsa staining method. In 95 (25.3%) patients diagnosis was malaria. In 65 patients (17.3%) the agent of the infection was P. falciparum and in 30 patients (8%) agents were other Plasmodium species.     

A case of rhabdomyolysis associated with thyrotoxicosis

Rhabdomyolysis is found to be associated with trauma; alcohol; drugs; viral infections, such as HIV, Epstein-Barr virus, cytomegalovirus and influenza; metabolic disorders; dermatomyositis; polymyositis; and hypothyroidism. Few cases of rhabdomyolysis associated with thyrotoxicosis have been reported. A patient who presented with delirium to the emergency department and was diagnosed with thyrotoxicosis and rhabdomyolysis is hereby presented.     

Detection of pathogenic intestinal bacteria by Toll-like receptor 5 on intestinal CD11c+ lamina propria cells

Toll-like receptors (TLRs) recognize distinct microbial components and induce innate immune responses. TLR5 is triggered by bacterial flagellin. Here we generated Tlr5-/- mice and assessed TLR5 function in vivo. Unlike other TLRs, TLR5 was not expressed on conventional dendritic cells or macrophages. In contrast, TLR5 was expressed mainly on intestinal CD11c+ lamina propria cells (LPCs). CD11c+ LPCs detected pathogenic bacteria and secreted proinflammatory cytokines in a TLR5-dependent way. However, CD11c+ LPCs do not express TLR4 and did not secrete proinflammatory cytokines after exposure to a commensal bacterium. Notably, transport of pathogenic Salmonella typhimurium from the intestinal tract to mesenteric lymph nodes was impaired in Tlr5-/- mice. These data suggest that CD11c+ LPCs, via TLR5, detect and are used by pathogenic bacteria in the intestinal lumen.     

Risk of neonatal care unit admission in small for gestational age fetuses at term: a prediction model and internal validation

Objective: Small for gestational age (SGA) fetuses are at increased risk of admission to the neonatal unit, even at term. We aimed to develop and validate a predictive model for the risk of prolonged neonatal unit admission in suspected SGA fetuses at term.

Methods: A single-center cohort study of singleton pregnancies with SGA fetus, defined as estimated fetal weight (EFW) less than the 10th centile, at term. The variables included known risk factors for neonatal unit admissions: maternal characteristics, EFW, abdominal circumference (AC), fetal Dopplers, gestational age (GA) at delivery, and intrapartum risk factors (meconium, pyrexia). Logistic regression analysis was used for model building and the prediction models were validated internally using bootstrapping.

Results: Seven hundred and one SGA pregnancies at term were included; 5.9% had prolonged neonatal unit admission (>48?h). The multivariable model (AUC 0.71; 95% CI: 0.63–0.79) included GA at delivery <39 weeks (OR 2.76; 95% CI 1.23–6.04, p?=?.011), cerebroplacental ratio (CPR) multiples of median (MoM) (OR 0.21; 95% CI 0.05–0.79, p?=?.023), and EFW below the third centile (OR 2.43; 95% CI 1.26–4.68, p?Conclusion: The prediction model shows good accuracy and good calibration for assessing the risk of neonatal unit admission in suspected SGA fetuses. It has the potential to be used for patient counseling, determining the timing of delivery and the individual risk.

• Brief rationale

• Objective: The objective of this study is to determine the factors associated with prolonged neonatal unit admissions in small for gestational age fetuses at term.

• What is already known: Fetal weight and Doppler parameters are associated with adverse outcome in small for gestational age fetuses. However, most studies use composite outcome criteria by combining neonatal unit admission with adverse delivery outcomes. A comprehensive model combining antenatal and intrapartum variables is also lacking.

• What this study adds: Our model describes the association of antenatal and intrapartum variables with prolonged neonatal unit admission without using a composite adverse outcome measure. Estimated fetal weight, gestational age at delivery, and the cerebroplacental ratio can be used to estimate the risk of prolonged neonatal unit admission. The risk estimation can be useful for patient counseling and to determine the time of delivery.

     

Clinical spectrum of acute abdominal pain in Turkish pediatric patients: A prospective study

Abstract Background : The aim of the present study was to determine the prevalence, associated symptoms, and clinical outcomes of children with acute abdominal pain who had been admitted to an emergency department. Methods : Children aged between 2 and 16 years who presented to the emergency department of Cerrahpa?a Medical School, Istanbul University between July 2001 and August 2002 with acute abdominal pain were enrolled in this study. A questionnaire was completed each patient admitted to our pediatric emergency unit for acute abdominal pain. Data collected included presenting signs and symptoms, the hospital follow up for all children who returned within 10 days, test results, and telephone follow up. Results : The number of children referred to the emergency department was 7442, with 399 (5.4%) of these having acute abdominal pain. The mean age of the study population was 6.9 ± 3.5 years, and 201 of the patients were male. The five most prevalent diagnoses were: (i) upper respiratory tract infection and/or complicated with otitis media or sinusitis (23.7%); (ii) abdominal pain with uncertain etiology (15.4%); (iii) gastroenteritis (15.4%); (iv) constipation (9.4%); and (v) urinary tract infection (8%). The most common associated symptoms were decreased appetite, fever and emesis. Because of follow‐up deficiency the progress of 28 patients was not obtained. Eighty‐two children were referred to the department of pediatric surgery, but only 17 of 82 (20.7%) required surgical intervention (15 of these 17 for appendicitis). Eleven patients returned within 10 days for re‐evaluation, but the initial diagnosis was not changed. The complaints of 57 patients with uncertain etiology were resolved within 2 days. Conclusions : An acute complaint of abdominal pain was usually attributed to a self‐limited disease. However, the percentage of surgical etiology is not negligible.     

Anterior urethral valves: an uncommon cause of obstructive uropathy in children

PurposeAnterior urethral valves (AUV) are rare entities generally described in case reports. They are an uncommon cause of lower urinary tract obstruction in children and can be difficult to diagnose. In the present study, we present our experience in four children with AUV along with a literature review.Materials and methodsWe retrospectively identified four children with AUV presented between 1998 and 2005 at age 4–9 years.ResultsHematuria, urinary tract infection and weak voiding stream were the most common symptoms. Voiding cystourethrography (VCUG) confirmed the diagnosis of AUV. On cystourethroscopy, cusp-like valves in the anterior urethra were seen in all children. Transurethral endoscopic resection of the valves was carried out in three children using a pediatric resectoscope. In one child with a massive anterior urethral diverticulum, open resection of the valve, diverticulectomy and urethroplasty were performed. All patients were cured, none had complications as a result of surgery, and all reported a normal urinary stream at follow-up.ConclusionsChildren with poor stream and recurrent infections should be evaluated carefully and anterior urethral valves should be considered in differential diagnosis of obstructive lesions.     

Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy

Background  

The Toll-like receptors (TLRs) mediate innate immunity to various pathogens. A mutation (S180L) in the TLR downstream signal transducer TIRAP has recently been reported to be common in Europeans and Africans and to roughly half the risks of heterogeneous infectious diseases including malaria, tuberculosis, bacteremia, and invasive pneumococal disease in heterozygous mutation carriers.