Netherton syndrome associated with idiopathic congenital hemihypertrophy

Netherton syndrome is a rare genodermatosis comprised of anichthyosiform dermatitis, hair shaft defects, and atopic features. Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. We describe an 18-month-old girl with Netherton syndrome who had idiopathic congenital hemihypertrophy on her right side with contralateral benign nephromegaly in addition to the characteristic clinical signs of the syndrome. To our knowledge, this is the first case of Netherton syndrome associated with idiopathic congenital hemihypertrophy to be reported.     

Correlation of serum IgE levels with severity of acute pulmonary thromboembolism

We aimed to investigate whether there is a direct correlation of serum IgE concentration with severity of acute pulmonary thromboembolism (PTE). DESIGN: Prospective study. SETTINGS: University medical center. Forty-six patients (27 female, 19 male) who were diagnosed as acute PTE in our clinic between 01 October 2000 and 30 November 2001 comprised the study group. Mean age was 55 (range was 20-82). The study group was divided into three groups according to severity of PTE: Group A, submassive PTE without pulmonary infarction (20 patients); group B, submassive PTE with pulmonary infarction (15 patients); and group C, massive PTE (11 patients). Serum IgE concentrations were measured by ELISA method at 1st, 5th, 15th, 30th, 60th, 90th days, and 120th days, if needed, after the diagnosis. Statistical analysis was made by Post hoc Tukey test. First day serum IgE levels were highest in group B (mean 507.7) followed by group C (mean 324.2), and were lowest in group A (mean 117.2). The differences between group B and group C, between group B and group A, and also between group C and A were all statistically significant (p< 0.5, p< 0.0001, p< 0.015, respectively). 5th day and 15th day results showed statistically significant differences between group B and A, and between group C and A (at 5th day: p<0.0001, p< 0.015 respectively, and at 15th day: p< 0.0001, p< 0.012 respectively). At 30th, 60th, and 90th days of diagnosis serum IgE concentrations were higher in group B than in group A which were statistically significant (p< 0.0001, p< 0.0001, p< 0.019 respectively). Patients with submassive PTE and pulmonary infarction had the highest serum IgE concentrations and the longest duration of high levels of IgE.     

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.     

Accurate diagnosis of acute abdomen in FMF and acute appendicitis patients: how can we use procalcitonin?

This study was conducted to define the value of procalcitonin (PCT) levels in the differential diagnosis of abdominal familial Mediterranean fever (FMF) attacks from acute appendicitis. From October 2006 to January 2007, 28 FMF (12 males, 16 females) patients with acute abdominal attacks and 34 patients (18 males) with acute abdomen who underwent operation with the clinical diagnosis of acute appendicitis were consecutively enrolled in this study. FMF patients with concurrent infectious diseases were excluded. PCT values were measured by an immunofluorescent method using the B.R.A.H.M.S. PCT kit (B.R.A.H.M.S. Diagnostica, Berlin, Germany). Erythrocyte sedimentation rate (ESR), C-reactive proteins (CRP) and leucocyte levels were also noted. Mean disease duration in FMF patients was 9.6 ± 8.1 years (range 2–33 years) and all were on colchicine therapy with a mean colchicine dosage of 1.2 ± 0.4 mg/day. Among the operated patients, 5 were excluded: 3 patients had normal findings and 2 had intestinal perforation (PCT levels were 2.69 and 4.93 ng/ml, respectively) at operative and pathologic evaluation. There were no significant differences between the two groups with respect to gender and age (p was not significant (NS) for all). Acute phase reactants and PCT levels were increased in patients with FMF compared to patients with acute appendicitis (0.529[0.12 ± 0.96] vs 0.095 [0.01–0.80] p < 0.001, respectively). PCT levels higher than 0.5 ng/ml were found in 11% (3/28) of FMF patients compared to 62% (18/29) of acute appendicitis patients (p < 0.001). Our results suggest that PCT could be a useful test in the differentiation of abdominal FMF attacks from acute appendicitis, though it should not supplant more conventional investigations.     

Interrelationship between noninvasive predictors of atherosclerosis: transthoracic coronary flow reserve, flow-mediated dilation, carotid intima-media thickness, aortic stiffness, aortic distensibility, elastic modulus, and brachial artery diameter

BACKGROUND: In this study, we searched for a correlation between transthoracic coronary flow reserve (CFR) and well-established surrogates of coronary atherosclerosis. METHODS: The study was conducted on 136 healthy subjects (mean age: 39.9 +/- 7.3 years) who were free of coronary risk factors. Transthoracic echocardiography was used to measure the aortic stiffness index (AoSI), aortic distensibility (AoD), and aortic elastic modulus (AoEM). High-resolution ultrasound was used to measure brachial artery endothelium-dependent and independent vasomotion and carotid intima-media thickness (IMT). In addition, transthoracic second harmonic Doppler echocardiography was used to measure CFR. RESULTS: All of the parameters significantly correlated with each other except brachial endothelium-independent dilation. CFR correlated significantly with brachial endothelium-dependent dilation (EDD) (r = 0.302, P < 0.01), carotid IMT (r =-0.388, P < 0.01), brachial artery diameter (r = 0.340, P < 0.01), AoD (r = 0.275, P < 0.01), AoS (r =-0.299, P < 0.01), and AoEM (r =-0.30,7 P < 0.01). Carotid IMT correlated significantly with brachial EDD and modestly with brachial artery diameter, AoD, AoS, and AoEM.In multivariate analysis, carotid IMT (beta=-0.323, P < 0.0001) and brachial artery diameter (beta = -0.259, P = 0.001) were significant independent predictors of CFR. The left ventricular mass index (beta= 0.371, P < 0.0001), brachial EDD (beta = -0.232, P = 0.002), and CFR (beta = -0.228, P = 0.003) were significant predictors for IMT. CONCLUSION: Transthoracic CFR correlated significantly with well-established noninvasive predictors of atherosclerosis, and we suggest that it can be used as a surrogate for coronary atherosclerosis.     

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.