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Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer. The subject died as a result of rapid B-cell lymphoma progression before chemotherapy could be initiated. This case highlights the need for the rapid diagnosis of A-T mutations and the detection of associated life-threatening outcomes such as cancers.
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Proteínas de la Ataxia Telangiectasia Mutada/genética , Ataxia Telangiectasia/genética , Mutación , Ataxia Telangiectasia/patología , Niño , Femenino , Humanos , Mutación/genética , PronósticoRESUMEN
Many genetic studies recently have focused on HLA, VDR, NRAMP1, MBL, TNF-a, and their relationships with susceptibility to diseases such as pulmonary tuberculosis. Some studies showed predisposing and protective roles for VDR polymorphisms in pulmonary tuberculosis. Through a case-control study, blood samples were taken from tuberculosis case (n= 164) and control (n= 50) groups. DNA was extracted from white blood cells by PCR-RFLP technique using special primers and enzymes for each polymorphism. VDR polymorphisms are known as ApaI, BsmI, FokI, and Taq I which were evaluated within the two mentioned groups. Combined genotypes AbfT and AabbFfTT were the only statistically significant factors which protected people against pulmonary TB in this study. Two mentioned genotypes were protective factors against TB and this study could not find any predisposing genotype to TB. More study is requested on this matter.
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Predisposición Genética a la Enfermedad/genética , Polimorfismo Genético , Receptores de Calcitriol/genética , Tuberculosis Pulmonar/genética , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Irán , MasculinoRESUMEN
INTRODUCTION: L-Carnitine is a cardioprotective agent which balances metabolism by promoting mitochondrial ß-oxidation and facilitating transportation of long chain fatty acids into the mitochondrial matrix. It has been shown that L-Carnitine level in plasma and tissue is lower in hemodialysis patients and they may lose the benefits of this substance. The aim of this trial was to evaluate the effects of L-Carnitine supplementation on cardiorespiratory Function in hemodialysis patients through ergospirometry. METHODS: The current study was conducted on 46 chronic hemodialysis patients. The patients were divided into two groups. In both groups ergospirometry parameters (VE Max, VO2-Max and VCO2 Max, AT, VE/VCO2 Slope) were recorded for a 3-month period of time. During this period, one group received L-Carnitine at doses of 2 g/d orally and the other group received only placebo. After three months, all of the mentioned parameters reevaluated and statistical analysis was done. RESULTS: Only CRP value was different between two group and in placebo group increased significantly after 3 months (P < .05). No significant difference was detected in Cardio-respiratory factors. In terms of ergospirometry, PET-CO2 was the only parameter which was significantly increased in the treatment group but decreased in placebo group (P < .05). CONCLUSION: Significant differences between our groups showed that L-Carnitine could help hemodialysis patients with cardiopulmonary problems to suffer lower rate of inflammation and poor life quality as shown at least in comparison of the two factors including CRP and PETCO2 at rest.
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Carnitina , Diálisis Renal , Suplementos Dietéticos , Humanos , Inflamación , Calidad de Vida , Diálisis Renal/efectos adversosRESUMEN
AIM: The study aimed to find the best reading time for the best accuracy of RUT in optimal time to obtain faster results with lower false rates and consequently save time in commencing treatment of peptic ulcers. BACKGROUND: Rapid urease test is well known to be an accurate test for H.pylori detection in tissue biopsies. METHODS: Patients with GI problems referring to a university hospital in Tehran who underwent endoscopy and biopsy were entered in the project and three samples of mucosal tissue were captured from the lesser curvature, the antrum and the body of stomach. RESULTS: We found 39.6% sensitivity and 95% specificity for the named test in the first 5 minutes as well as PPV = 95.5% and NPV = 37.3% while the accuracy was 54.79%. Except for the specificity which was constantly 95% in all RUT reading times, other diagnostic parameters increased as time went on. The PPV was also higher than 97% after 10 minutes. The highest values of sensitivity, specificity, PPV, NPV and accuracy were achieved after 12 hours including 88.7%, 95%, 97.9%, 76% and 90.41%, respectively. CONCLUSION: To conclude, it seems that there are many different ideas with respect to the rapid urease test in H.pylori detection. However, the current study recommends reading the test optimally after 12 hours but it is suggested more multidisciplinary studies with bigger sample size be carried out to obtain better and more reliable results to be able to generalize in this regard.
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Innate lymphoid cells (ILCs) are identified as novel population of hematopoietic cells which protect the body by coordinating the innate immune response against a wide range of threats including infections, tissue damages and homeostatic disturbances. ILCs, particularly ILC2 cells, are found throughout the body including the brain. ILCs are morphologically similar to lymphocytes, express and release high levels of T-helper (Th)1, Th2 and Th17 cytokines but do not express classical cell-surface markers that are associated with other immune cell lineages. Three types of ILCs (ILC1, 2 & 3) have been reported depending upon the cytokines produced. ILC1 cells encompass natural killer (NK) cells and interferon (IFN)-g releasing cells; ILC2 cells release the Th2 cytokines, IL-5, IL-9 and IL-13 in response to IL-25 and IL-33; and ILC3 cells which release IL-17 and IL-22. ILC2 cells have been implicated inmucosal reactions occurring in animal models of allergic asthma and virus-induced lung disorders resulting in the regulation of airway remodeling and tissue homeostasis. There is evidence for increased ILC2 cell numbers in allergic responses in man but little is known about the role of ILCs in chronic obstructive pulmonary disease (COPD). Further understanding of the characteristics of ILCs such as their origin, location and phenotypes and function would help to clarify the role of these cells in the pathogenesis of various lung diseases. In this review we will focus on the role of ILC2 cells and consider their origin, function,location and possible role in the pathogenesis of the chronic inflammatory disorders such as asthma and COPD.
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Enfermedades Pulmonares/inmunología , Linfocitos/inmunología , Animales , Asma/inmunología , Citocinas/metabolismo , Humanos , Inmunidad Innata , Inmunomodulación , Enfermedad Pulmonar Obstructiva Crónica/inmunologíaRESUMEN
Nasal bone fracture is the most common fracture which would result from facial trauma. So, the present study performed to select the most reliable way to diagnose new fractures considering CT scan results as a gold standard in this matter. All the people refer to a forensic medicine center were, at first, physically examined by general practitioners. Plain lateral radiography and ENT consult were requested afterwards. CT scan was requested to get trusty results in case of any imbalance between Radiographic finding and physical examination. The results finally were evaluated and compared. CT scan was tried for 61 (6%) patients with positive clinical findings for new fracture which were not supported by radiologic studies. New fracture was identified in 55 participants out of the above number. Trusting physical examination and its preference to the radiologic findings has special value in cases where fracture is not detectable by radiography and there is no access to CT scan.
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Although sport-physiologists have repeatedly analyzed respiratory gases through exercise, it is relatively new in the cardiovascular field and is obviously more acceptable than standard exercise test, which gives only information about the existence or absence of cardiovascular diseases (CVDs). Through the new method of exercise test, parameters including aerobic and anaerobic are checked and monitored. 22 severe cases of heart failure, who were candidates of heart transplantation, referring to Massih Daneshvari Hospital in Tehran from Nov. 2007 to Nov. 2008 enrolled this study. The study was designed as a cross-sectional performance and evaluated only patients with ejection fraction less than 30%. O2 mean consumption was 6.27±4.9 ml/kg/min at rest and 9.48±3.38 at anaerobic threshold (AT) exceeding 13 ml/kg/min in maximum which was significantly more than the expected levels. Respiratory exchange ratio (RER) was over 1 for all patients. This study could not find any statistical correlations between VO2 max and participants' ergonomic factors such as age, height, weight, BMI, as well as EF. This study showed no significant correlation between VO2 max and maximum heart rate (HR max), although O2 maximum consumption was rationally correlated with expiratory ventilation. This means that the patients achieved maximum ventilation through exercise in this study, but failed to have their maximum heart rate being led probably by HF-induced brady-arrhythmia or deconditioning of skeletal muscles.