IS LUMBAR PUNCTURE ALWAYS NECESSARY IN THE FEBRILE CHILD WITH CONVULSION?

ObjectiveFebrile convulsion is the most common benign convulsive disorder in children. Meningitis is one of the most important causes of fever and convulsions, diagnosed by lumbar puncture (LP), a painful and invasive procedure much debated  regarding its necessity. This study evaluates the frequency of abnormal LP findings in a group of patients, to determine whether or not unnecessary LP can be prevented without missing patients with serious problems such as meningitis.Materials& MethodsThe study was a descriptive, cross sectional study, conducted on 200 children suffering from fever and convulsions. Medical files of patients were taken from the hospital records and relevant data were collected to complete the appropriate forms.ResultsOf 200 patients included in the study, 116 (58%) children were male, and 84 (42%) were female. 47 cases (23.5%) underwent LP, of whom just one (0.5%) had abnormal LP and meningitis.ConclusionRegarding Considering the low prevalence of meningitis in children with convulsion and fever, we conclude that by means of precise clinical examination and monitoring, it is possible to prevent unnecessary LP in these patients.Key Words:Fever and convulsion, Lumbar puncture, Meningitis

CCR2-V64I polymorphism is associated with increased risk of cervical cancer but not with HPV infection or pre-cancerous lesions in African women

<p>Abstract</p> <p>Background</p> <p>Cervical cancer, caused by specific oncogenic types of human papillomavirus (HPV), is the second most common cancer in women worldwide. A large number of young sexually active women get infected by HPV but only a small fraction of them have persistent infection and develop cervical cancer pointing to co- factors including host genetics that might play a role in outcome of the HPV infection. This study investigated the role of <it>CCR2-V64I </it>polymorphism in cervical cancer, pre-cancers and HPV infection in South African women resident in Western Cape. <it>CCR2-V64I </it>polymorphism has been previously reported to influence the progression to cervical cancer in some populations and has also been associated with decreased progression from HIV infection to AIDS.</p> <p>Methods</p> <p>Genotyping for <it>CCR2-V64I </it>was done by PCR-SSP in a case-control study of 446 women (106 black African and 340 mixed-ancestry) with histologically confirmed invasive cervical cancer and 1432 controls (322 black African and 1110 mixed-ancestry) group-matched (1:3) by age, ethnicity and domicile status. In the control women HPV was detected using the Digene Hybrid Capture II test and cervical disease was detected by cervical cytology.</p> <p>Results</p> <p>The <it>CCR2-64I </it>variant was significantly associated with cervical cancer when cases were compared to the control group (P = 0.001). Further analysis comparing selected groups within the controls showed that individuals with abnormal cytology and high grade squamous intraepitleial neoplasia (HSIL) did not have this association when compared to women with normal cytology. HPV infection also showed no association with <it>CCR2-64I </it>variant. Comparing SIL positive controls with the cases showed a significant association of <it>CCR2-64I </it>variant (P = 0.001) with cervical cancer.</p> <p>Conclusions</p> <p>This is the first study of the role of <it>CCR2-V64I </it>polymorphism in cervical cancer in an African population. Our results show that <it>CCR2-64I </it>variant is associated with the risk of cervical cancer but does not affect the susceptibility to HPV infection or HSIL in South African women of black and mixed-ancestry origin. This result implies that the role of CCR2 is important in invasive cancer of the cervix but not in HPV infection or in the development of pre-cancers.</p

Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017

Background: The Global Burden of Diseases, Injuries, and Risk Factors Study 2017 (GBD 2017) includes a comprehensive assessment of incidence, prevalence, and years lived with disability (YLDs) for 354 causes in 195 countries and territories from 1990 to 2017. Previous GBD studies have shown how the decline of mortality rates from 1990 to 2016 has led to an increase in life expectancy, an ageing global population, and an expansion of the non-fatal burden of disease and injury. These studies have also shown how a substantial portion of the world's population experiences non-fatal health loss with considerable heterogeneity among different causes, locations, ages, and sexes. Ongoing objectives of the GBD study include increasing the level of estimation detail, improving analytical strategies, and increasing the amount of high-quality data. Methods: We estimated incidence and prevalence for 354 diseases and injuries and 3484 sequelae. We used an updated and extensive body of literature studies, survey data, surveillance data, inpatient admission records, outpatient visit records, and health insurance claims, and additionally used results from cause of death models to inform estimates using a total of 68 781 data sources. Newly available clinical data from India, Iran, Japan, Jordan, Nepal, China, Brazil, Norway, and Italy were incorporated, as well as updated claims data from the USA and new claims data from Taiwan (province of China) and Singapore. We used DisMod-MR 2.1, a Bayesian meta-regression tool, as the main method of estimation, ensuring consistency between rates of incidence, prevalence, remission, and cause of death for each condition. YLDs were estimated as the product of a prevalence estimate and a disability weight for health states of each mutually exclusive sequela, adjusted for comorbidity. We updated the Socio-demographic Index (SDI), a summary development indicator of income per capita, years of schooling, and total fertility rate. Additionally, we calculated differences between male and female YLDs to identify divergent trends across sexes. GBD 2017 complies with the Guidelines for Accurate and Transparent Health Estimates Reporting. Findings: Globally, for females, the causes with the greatest age-standardised prevalence were oral disorders, headache disorders, and haemoglobinopathies and haemolytic anaemias in both 1990 and 2017. For males, the causes with the greatest age-standardised prevalence were oral disorders, headache disorders, and tuberculosis including latent tuberculosis infection in both 1990 and 2017. In terms of YLDs, low back pain, headache disorders, and dietary iron deficiency were the leading Level 3 causes of YLD counts in 1990, whereas low back pain, headache disorders, and depressive disorders were the leading causes in 2017 for both sexes combined. All-cause age-standardised YLD rates decreased by 3·9% (95% uncertainty interval [UI] 3·1–4·6) from 1990 to 2017; however, the all-age YLD rate increased by 7·2% (6·0–8·4) while the total sum of global YLDs increased from 562 million (421–723) to 853 million (642–1100). The increases for males and females were similar, with increases in all-age YLD rates of 7·9% (6·6–9·2) for males and 6·5% (5·4–7·7) for females. We found significant differences between males and females in terms of age-standardised prevalence estimates for multiple causes. The causes with the greatest relative differences between sexes in 2017 included substance use disorders (3018 cases [95% UI 2782–3252] per 100 000 in males vs s1400 [1279–1524] per 100 000 in females), transport injuries (3322 [3082–3583] vs 2336 [2154–2535]), and self-harm and interpersonal violence (3265 [2943–3630] vs 5643 [5057–6302]). Interpretation: Global all-cause age-standardised YLD rates have improved only slightly over a period spanning nearly three decades. However, the magnitude of the non-fatal disease burden has expanded globally, with increasing numbers of people who have a wide spectrum of conditions. A subset of conditions has remained globally pervasive since 1990, whereas other conditions have displayed more dynamic trends, with different ages, sexes, and geographies across the globe experiencing varying burdens and trends of health loss. This study emphasises how global improvements in premature mortality for select conditions have led to older populations with complex and potentially expensive diseases, yet also highlights global achievements in certain domains of disease and injury

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G>T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G>T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin

Is There Any Association Between ER Gene Polymorphism and Infertility in Iranian Men?

Introduction: A significant proportion of infertile men with azoospermia and severe oligoazoospermia have a genetic etiology for their reproductive failure. Genetic analysis has major effects on finding the causes of infertility in last decade, but still in some cases, we still do not have clear answer for our patients. During last years it has become evident&#13; that endogenous estrogens and estrogen receptors (ER) play role in the regulation of testicular function. Present study was performed to evaluate the significance of RsaI and AluI single nucleotide polymorphism in the ER gene in infertile patients in comparison with normal fertile male control.&#13; Methods: From 120 infertile men referred to our center after ruling out all the known causes of the infertility such as chromosomal abnormalities, Y-chromosome microdeletion, and other pathologic disorders, 5 ml peripheral blood were obtained for DNA extraction. PCR amplification of the polymorphic region was carried out and after running the PCR&#13; products on 1.5% agarose gel, the frequency of the polymorphism were calculated.&#13; Results: A 3 times higher frequency of the heterozygous RsaI genotype was found in men with low sperm concentration compared to control (P=0.003). In contrast, the proportion of homozygous AluI genotype was only 1/3 in severely oligoazoospermic men in comparison with control (P=0.03).&#13; Conclusion: Our results could suggest that ER and RsaI and AluI single nucleotide polymorphisms on this gene are important for spermatogenesis in humans, and could play an important role in the spermatogenesis process in males. Also it is possible to conclude that different conditions of infertility may not have genetic predisposition in common.&#13; Key words: estrogen receptor, polymorphis

Is Posterior Cruciate Ligament Needle Pie-Crusting Safe and Effective in Balancing Cruciate-Retained Total Knee Arthroplasty? A Comparative Study

Background: There is still debate over whether to sacrifice the posterior cruciate ligament (PCL) during total knee arthroplasty (TKA). Several studies reported the costs and benefits of each approach regarding technical difficulties in PCL balancing and postoperation complications. In this study, we aimed to evaluate PCL needling as a safe method for balancing the cruciate-retained TKA (CR-TKA). Methods: In this comparative study, 120 patients underwent CR-TKA and were divided into 2 groups. Fifty-four patients with an acceptable PCL tightness were included in group A, and 66 cases with a tight PCL were included in group B. In group B, needle pie-crusting of the PCL was performed instead of releasing the PCL from its insertions as the standard procedure. The participants' functional outcomes, pain severity, knee range of motion, and PCL laxity were evaluated during multiple follow-ups in 3 years postoperatively. Results: The participants' age, weight, and body mass index did not differ between the 2 groups. The mean age of the patients was 69 ± 5.9 years. The functional outcomes and range of motion of the patients in the 2 groups significantly improved after the operation compared to the preoperative status, but the postoperative score was not significantly different between groups (P > .05). Clinical examinations were normal in all patients in both groups in all follow-up stages. Conclusions: PCL balancing is a time-consuming yet essential step for the outcome of CR-TKA and patient satisfaction. PCL needling technique shows promising results and a few complications for PCL balancing in CR-TKA