Cutaneous manifestations of anthrax in Eastern Anatolia: a review of 39 cases.

Anthrax is essentially a disease of grazing herbivorous animals. The most common form of the disease is cutaneous anthrax, which accounts for 95% of all cases. We report here 39 cutaneous anthrax cases in humans that were seen in Eastern Anatolia over a six-year period. The clinical presentation was malignant edema in 16 of the cases (41%) and malignant pustule in 23 (59%). A secondary bacterial infection was present in 13 patients (33.3%) in the vicinity of the lesions. The agent was observed using Gram-stained smears in 25 patients (64%), and Bacillus anthracis was isolated from 15 patients (38.5%). All of the patients were treated with penicillin G or penicillin procaine, except one patient who had a penicillin allergy. One patient with cervical edema (2.5%) died as a result of laryngeal edema and sepsis syndrome. In conclusion, we found that the appearance of the skin lesion of cutaneous anthrax may vary, and this fact, combined with the rarity of this disease, which contributes to a general lack of experience among medical personnel, may make diagnosis difficult in nonagricultural settings</p

Prognostic factors in children with purulent meningitis in Turkey.

In this study the clinical and laboratory findings of 48 children with purulent meningitis were examined, prospectively, to determine the prognostic factors in childhood meningitis in a developing country. Patients were examined for the following variables: history of antibiotic use; period between onset of symptoms and hospital admission; age at presentation; sex; fever; convulsion; level of consciousness; malnutrition; anemia; leukocyte and thrombocyte counts; erythrocyte sedimentation rate; serum C-reactive protein (CRP) level; and cerebrospinal fluid (CSF) including white blood cell count; glucose, protein, and CRP concentrations; antibiotic treatment; neurological sequelae; and fatality rate during the hospital stay. Most of these parameters were re-evaluated in all patients 36-48 h after admission. Patients were divided into 3 groups: surviving without sequelae, surviving with sequelae, and not surviving (deceased). A total of 48 children, 19 girls (39.5%) and 29 boys (60.5%), aged 2 months to 13 years, were included in the study. Of the 48 patients, 29 (60.5 %) survived without sequelae, 13 (27%) survived with sequelae and 6 (12.5%) died. In a comparison among groups, we found that absence of anemia, low (&#60; 1,000) CSF white blood cell (WBC) count, and high CRP level at admission were the indicative of poor prognosis. Thirty-six to 48 h after admission, the presence of fever, depressed level of consciousness, high (&#62; 1,000) CSF WBC count, and low CRP level were also poor prognostic factors. In addition, we observed that mortality rate was lower in the penicillin G + chloramphenicol group than in the ampicillin-sulbactam + cefotaxime group (P &#60; 0.05). The mean period between onset of symptoms and hospital admission was longer in the surviving with sequelae and in the not surviving groups than in the surviving without sequelae group (P &#60; 0.05).</p

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

SummaryNeurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified a founder mutation in four independent pedigrees in cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is a multifunctional kinase implicated in tRNA, mRNA, and siRNA maturation. Kinase activity of the CLP1 mutant protein was defective, and the tRNA endonuclease complex (TSEN) was destabilized, resulting in impaired pre-tRNA cleavage. Germline clp1 null zebrafish showed cerebellar neurodegeneration that was rescued by wild-type, but not mutant, human CLP1 expression. Patient-derived induced neurons displayed both depletion of mature tRNAs and accumulation of unspliced pre-tRNAs. Transfection of partially processed tRNA fragments into patient cells exacerbated an oxidative stress-induced reduction in cell survival. Our data link tRNA maturation to neuronal development and neurodegeneration through defective CLP1 function in humans

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

A Case Report: Cluster Headache in Childhood

Cluster headache (CH) is one of the most severe types of headache, characterized by periods of recurrent attacks of sudden and intense pain, localized in the orbital or temporal region, and associated with ipsilateral autonomic symptoms and signs. The mean age of onset of CH is in the late third decade. Only few cases of childhood-onset ( [Med-Science 2014; 3(1.000): 1136-9

Brain magnetic resonance imaging and magnetic resonance spectroscopy findings of children with kernicterus

Background: The term kernicterus, or bilirubin encephalopathy, is used to describe pathological bilirubin staining of the basal ganglia, brain stem, and cerebellum, and is associated with hyperbilirubinemia. Kernicterus generally occurs in untreated hyperbilirubinemia or cases where treatment is delayed. Magnetic resonance imaging (MRI)-based studies have shown characteristic findings in kernicterus. The objective of our study was to describe the role of 1H magnetic resonance spectroscopy (MRS) in demonstrating these metabolic changes and to review conventional MRI findings of kernicterus. Material and Methods: Forty-eight pediatric cases with kernicterus were included in this study. MRI and MRS examinations were performed on variable dates (10-29 days after birth). NAA, Cr, Cho, NAA/Cr, NAA/Cho, and Cho/Cr values were evaluated visually and by computer analysis. Results: There was no statistically significant difference between the NAA and Cho levels in the acute kernicterus patients and the control group (healthy patients), whereas both were significantly elevated in the chronic kernicterus patients. Both the mean NAA/Cr and Cho/Cr ratio values were significantly higher in the acute and chronic cases compared to the control group. The NAA/Cho ratio value was statistically lower in the acute cases than in the control group while it was similar in the chronic cases. Conclusions: Conventional MR imaging and 1H-MRS are important complementary tools in the diagnostics of neonatal bilirubin encephalopathy. This study provided important information for applying these MR modalities in the evaluation of neonates with bilirubin encephalopathy

The Prevalence of Urinary Lithiasis in Children in Van Region, Turkey

We aimed to determine the prevalence and etiology of urinary lithiasis in childhood in our region, Van, Turkey. A total of 1120 children were included in the study. Urinary ultrasonography was performed in all the children between April 2003 and June 2003. During the study, the kidneys were examined longitudinally and transversally using a 3.75 MHz convex probe in a Hitachi EUB -315 ultrasonography machine. The children's ages ranged from 7 years to 14 years (10.16 ± 1.92 years) and 572 (51.1%) were males and 548 (48.9%) females. Urinary ultrasonography showed that 19 (1.7%) children had urinary lithiasis, which was in the right kidney in 15 children and in the left kidney in four children. Urinary lithiasis was in the upper urinary tract in all children. The etiological studies showed metabolic disorder in 14 children, and congenital renal anomaly in one child, but no underlying cause was diagnosed in four children. In conclusion, we found that was the prevalence of urinary lithiasis was 1.7% in school-aged children in our region. It was also noted that all urinary lithiasis was in the upper urinary system and its most common cause was metabolic disorder