: Common variable immunodeficiency (CVID) is one of the primary immunodeficiencies, which usually presents with recurrent bacterial infections, particularly in respiratory and gastrointestinal systems and hypogammaglobulinemia. We present here a case of CVID who was suffering from chronic watery diarrhea since 3 months before admission. Past medical history was uneventful about recurrent infections. No abnormality was revealed on physical examination. After thorough investigations about other possible causes of chronic diarrhea, and based on laboratory data of hypogammaglobuliemia, we considered him as a case of CVID with an isolated manifestation.
Background: Malnutrition is one of the most common disorders among children with Cystic Fibrosis (CF). The present study aimed to investigate the effect of nutritional consultation on the type and severity of malnutrition in children with CF. Materials and Methods: This quasi-experimental study was conducted on 78 children with CF referred to Mofid Pediatric Hospital, Tehran, Iran, in 2017-2018. Their parents filled the demographic questionnaire. Participants with malnutrition were undergoing the assessment on growth indices, including weight, height, ideal body weight, mid-upper arm circumference, and Z-score. Moreover, the nutritional consultations were considered for them (30-45 minutes). Children and their parents were consulted and trained about total daily calorie acquirement, type, number of the meal, amount of food intake, drinks, and avoided eating of any low-calorie food like snacks, during the consultation. All patients were reassessed three months later for growth indices. The data were analyzed using SPSS software version 22.0. Results: We assessed 78 children with CF, 21 (26%) of them had mild, 26 (34%) moderate malnutrition, and 31 (40%) severe malnutrition. The result showed that nutritional intervention was effective. Consequently, 1 (3.8%) of the moderately malnourished child was improved to mild malnutrition and 5 (27.8%) children under five years old were improved from severe to moderate malnutrition. Moreover, 1 (5.6%) child were improved from severe to mild, and 2 (15.4%) of children over five years old were improved from severe to moderate malnutrition. Conclusion: According to the results, the early growth assessment in hospitalized and outpatient, diagnosis of malnutrition and nutritional interventionwill be useful in improving the severity of malnutrition and growth indices in children with CF.
Introduction: Kikuchi-Fujimoto disease (KFD) is an uncommon idiopathic self-limited cause of lymphadenitis that most commonly presents with cervical lymphadenopathy with or without systemic signs and symptom, which is also called histiocytic necrotizing lymphadenitis (1-6). Although infection and autoimmune etiology have been suggested, the cause of KFD is unknown. Several features that support a role for an infectious cause include the generally self-limited courses and association with symptoms similar to upper respiratory tract infection. Many viral infections have been proposed including cytomegalovirus, varicella zoster virus, human herpes virus, Epstein-Barr virus, parainfluenza virus, parvovirus B19, paramyxovirus, Yersinia enterocolitica, and Toxoplasma gondii. In a Korean study on 147 patients presenting at an outpatient clinic, KFD (34.7%) and tuberculous (TB) adenitis (22.4%) were the most common causes of cervical adenitis (7-14). Case Presentation: We presented a case of TB lymphadenitis in association with celiac disease that mimicked KFD in a young child. Conclusions: Celiac disease, also known as gluten-sensitive enteropathy and nontropical sprue, is an autoimmune disease with chronic inflammation of small intestine, which is associated with increased risk of TB infection. TB lymphadenitis can mimic KFD. Therefore, in each case of unusual lymphadenitis, TB should be considered and if it is associated with failure to thrive, celiac disease should be suspected.
Background: Wilson's disease (WD) is a genetic disorder with various clinical presentations due to excessive accumulation of copper in the liver and other organs. It can present as acute/chronic hepatitis, liver failure, extrahepatic and neuromuscular manifestations. Autoimmune hepatitis (AIH) is a necroinflammatory disease of the liver, which affects a lot of people particularly the children population. AIH has a broad clinical presentation that is similar to WD. Coexistence of WD with elevated creatinine phosphokinase (CPK) and AIH, may be a diagnostic dilemma. Case Report: We presented a 6 years old boy with dysarthria, aggressive behavior, weak attention, concentration and weight loss with abnormal physical examination. Laboratory, histochemical, genomic studies, muscle/liver biopsy and atomic absorption test confirmed the diagnosis of both WD and AIH in the boy. Conclusion Although CPK and liver enzyme elevation is a rare presentation of chronic hepatitis with dominant feature of WD and AIH; however, simultaneous therapy with immunosuppressive drugs and Penicillamine may have superior benefit with a significant response.
Inflammatory bowel disease (IBD) with very early onset manifestations (younger than six years of age) is an essential pediatric gastrointestinal disease that encompasses a group of diverse and rare genetic defects. It may be associated with chronicity, premalignant nature, and high morbidity and mortality during childhood. Because of overlapping phenotypes, the definitive diagnosis based on conventional strategies is frequently a challenge. However, many patients with different molecular pathologies are treated with the same therapeutic strategy. In this context, it is essential to define a more reliable method to provide an opportunity for a rapid and accurate diagnosis. Here we report a novel homozygous exonic variant in a patient with an IBD-like lesion in the colon during the infancy period. A 7 months old boy who was born of a consanguineous marriage developed gastrointestinal disorders early in life. After complete diagnostic workups, this case underwent conventional therapy of IBD for five months; but clinical remission was not achieved. We identified a novel homozygous mutation (c.684C>T p(=)) in exon 7 of IL-12RB1 gene that in silico studies indicated its significance in the splicing process. At the 14th month of age, this case died. Our finding reveals the importance of genetic screening as an early diagnostic tool in the identification of the underlying causes of IBD with very early onset manifestations, particularly infantile (< 2 years of age) IBD. This strategy makes an opportunity in prompt diagnosis and targeted therapy.
Background: Non-alcoholic fatty liver disease (NAFLD) occurs with the pathological accumulation of fat in the liver and is one of the most common liver disorders worldwide among adults and even children. Obesity is a risk factor for NAFLD. Objectives: Considering the increasing prevalence of obesity in Iran and worldwide, this study was conducted to determine the prevalence of NAFLD and its related factors in overweight and obese students of schools in Tehran, Iran. Methods: This cross-sectional study was performed on 115 overweight and obese students [body mass index (BMI) ≥ 25] with an age range of 7 - 17 years. Eligible individuals were classified into two groups with and without NAFLD. Liver ultrasonography and measurement of serum parameters, including fasting blood sugar, lipid profile, and liver enzymes, were performed. Next, the demographic and anthropometric characteristics were compared between the two groups. Results: Out of 115 studied students, 71 subjects were boys (61.7%). The results showed that the mean BMI in patients with fatty liver was significantly higher than in individuals without fatty liver (P = 0.03). According to our findings, the mean total cholesterol in NAFLD patients was significantly higher than in the group without NAFLD (P = 0.008). The univariate logistic regression model results for measuring factors related to fatty liver in students showed a significant positive correlation between male gender, BMI, total cholesterol, aspartate aminotransferase, and alanine aminotransferase. Conclusions: NAFLD is a substantial problem in school children and correlates with elevated BMI. Therefore, the measurement of BMI can be used as a useful predictor and screening tool for NAFLD in school children.
Coexistence of Wilson's disease and autoimmune hepatitis has been rarely reported in English literature. In this group of patients, there exist features of both diseases and laboratory and histopathological studies may be misleading. Medical treatment for any of these entities, per se, may result in poor response. Therefore, by considering the acute hepatitis resembling Wilson's disease and autoimmune hepatitis, simultaneous therapy with immunosuppressive and penicillamine may have a superior benefit.We present the case of a 10-year-old boy with nausea, vomiting, yellowish discoloration of skin and sclera, abdominal pain and tea-color urine. Physical examination showed mild hepatomegaly and right upper quadrant tenderness. Laboratory and histochemical studies and atomic absorption test were done and the results were highly suggestive of both Wilson's disease and autoimmune hepatitis, in him.This case study highlights, although rare, the coexistence of Wilson's disease and autoimmune hepatitis and the need to maintain a high level of awareness of this problem. Therefore, it is reasonable to consider this type of hepatitis in rare patients, with dominant features of both diseases at the same time.
Drawing on the results of the country-level Global Burden of Diseases, Injuries, and Risk Factors 2010 Study, we attempted to investigate the drivers of change in the healthcare system in terms of mortality and morbidity due to diseases, injuries, and risk factors for the two decades from 1990 to 2010.We decomposed trends in mortality, cause of death, years of life lost due to disability, disability-adjusted life years (DALYs), life expectancy, health-adjusted life expectancy, and risk factors into the contribution of total increase in population size, aging of the population, and changes in age-specific and sex-specific rates.We observed a decrease in age-specific mortality rate for both sexes, with a higher rate for women. The ranking of causes of death and their corresponding number of years of life lost remained unchanged between 1990 and 2010. However, the percentages of change indicate patterns of reduction for most causes, such as ischemic and hemorrhagic stroke, hypertensive heart disease, stomach cancer, lower respiratory infections, and congenital anomalies. The number of years lost due to disability caused by diabetes and drug use disorders has significantly increased in the last two decades. Major causes of DALYs, such as injuries, interpersonal violence, and suicide, showed increasing trends, while rates of communicable diseases, neonatal disorders, and nutritional deficiencies have declined significantly. Life expectancy and health-adjusted life expectancy increased for both sexes by approximately 7 years, with the highest rate of increase pertaining to females over the age 30.Time trend information presented in this paper can be used to evaluate problems and policies specific to medical conditions or risk factors. Despite recent improvements, implementing policies to reduce the number of deaths and years of life lost due to road traffic injury remains the highest priority for Iranian policymakers. Immediate action by Iranian researchers is required to match Iran's decreasing mortality rate due to liver and stomach cancers to a rate comparable to the global level. Prevention and treatment plans for mental disorders, such as major depressive disorder, anxiety disorder, and particularly drug use disorders, should be considered in reforms of the health, education, and judiciary systems in Iran.
: Broncho-esophageal fistula (BEF) is a rare congenital anomaly affecting the respiratory and upper gastrointestinal tract. The rarity makes its timely diagnosis very challenging. This study presents a rare case of missed congenital BEF in a six-year-old girl with repaired esophageal atresia in the neonatal period suffering from recurrent respiratory symptoms, choking, and respiratory distress following eating, resulting in vomiting or regurgitation for three years before admission. While the contrast esophagography and endoscopy had failed to diagnose her problem, the methylene blue test via an esophageal catheter observed by fiberoptic bronchoscopy could detect the presence of BEF reliably in the present case. Presenting this case can raise physicians' knowledge of the diagnostic role of methylene blue test via fiberoptic bronchoscopy.
Chitosan is one of dietary fiber that has received great attention in improving obesity-related markers, but little is known on its effects on adolescents.To analyze the effects of chitosan supplementation on obesity-related cardiometabolic markers and appetite-related hormones in adolescents with overweight or obesity.A randomized clinical trial was performed on 64 adolescents with overweight and obesity, who were randomly allocated to receive chitosan supplementation (n = 32) or placebo as control (n = 32) for 12 weeks. Anthropometric measures, lipid and glycemic profiles, and appetite-related hormones were examined.Sixty-one participants completed study (chitosan = 31, placebo = 30). Chitosan supplementation significantly improved anthropometric indicators of obesity (body weight: - 3.58 ± 2.17 kg, waist circumference: - 5.00 ± 3.11 cm, and body mass index: - 1.61 ± 0.99 kg/m2 and - 0.28 ± 0.19 Z-score), lipid (triglycerides: - 5.67 ± 9.24, total cholesterol: - 14.12 ± 13.34, LDL-C: - 7.18 ± 10.16, and HDL-C: 1.83 ± 4.64 mg/dL) and glycemic markers (insulin: - 5.51 ± 7.52 μIU/mL, fasting blood glucose: - 5.77 ± 6.93 mg/dL, and homeostasis model assessment of insulin resistance: - 0.24 ± 0.44), and appetite-related hormones (adiponectin: 1.69 ± 2.13 ng/dL, leptin - 19.40 ± 16.89, and neuropeptide Y: - 41.96 ± 79.34 ng/dL). When compared with the placebo group, chitosan supplementation had greater improvement in body weight, body mass index (kg/m2 and Z-score), waist circumference, as well as insulin, adiponectin, and leptin levels. Differences were significant according to P-value < 0.05.Chitosan supplementation can improve cardiometabolic parameters (anthropometric indicators of obesity and lipid and glycemic markers) and appetite-related hormones (adiponectin, leptin, and NPY) in adolescents with overweight or obesity.
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