Sleep architecture and obstructive sleep apnea in obese children with and without metabolic syndrome: a case control study

Purpose

Obesity and biochemical parameters of metabolic disorders are both closely related to obstructive sleep apnea (OSA). The aim of this study was to compare sleep architecture and OSA in obese children with and without metabolic syndrome.

Methods

Forty-two children with metabolic syndrome were selected as case group and 38 children without metabolic syndrome were matched for age, sex, and BMI as control group. The standardized Persian version of bedtime problems, excessive daytime sleepiness, awakenings during the night, regularity and duration of sleep, snoring (BEARS) and Children’s Sleep Habits Questionnaires were completed, and polysomnography (PSG) was performed for all study subjects. Scoring was performed using the manual of American Academy of Sleep Medicine for children. Data were analyzed using chi-square test, T test, Mann–Whitney U test, and logistic regression analysis.

Results

Non-rapid eye movement (NREM) sleep and N1 stage in the case group were significantly longer than the control group, while REM sleep was significantly shorter. Waking after sleep onset (WASO) was significantly different between two groups. Severe OSA was more frequent in the control group. Multivariate logistic regression analysis showed that severe OSA (OR 21.478, 95 % CI 2.160–213.600; P = 0.009) and REM sleep (OR 0.856, 95 % CI 0.737–0.994; P = 0.041) had independent association with metabolic syndrome.

Conclusions

Obese children with metabolic syndrome had increased WASO, N1 sleep stage, and severe OSA. But the results regarding sleep architecture are most likely a direct result of OSA severity. More longitudinal studies are needed to confirm the association of metabolic syndrome and OSA.

     

Natural History of Chronic Hepatitis B Virus Infection in Ahvaz City,Iran

Objective: A long persistent of Chronic Hepatitis B (CHB) infection may develop liver cirrhosis or hepatocellularcarcinoma (HCC) and about one million people die due to HBV -related liver cancer and end-stage liver disease annuallyworldwide. The natural history of CHB phases comprises four phases: immune tolerant (HBeAg detectable and ALT(Alanine Transaminase) normal, HBeAg-positive immune active (HBeAg detectable, anti-HBe antibodies undetectableand ALT persistently elevated), HBeAg-negative immune active (HBeAg undetectable, anti-HBe antibodies presentand ALT persistently elevated), inactive carrier (HBeAg undetectable, anti-HBe antibodies present and ALT normal).The evaluation of chronic hepatitis B phases is a crucial to manage the burden of disease and limit the developmentof associated complications, such as cirrhosis and hepatocellular carcinoma (HCC). Thus this study conducted toevaluate the natural history of HBV infection in patients with chronic HBV infection in Ahvaz city, Iran. Methods: Inthis study, 71 non-treated CHB individuals were recruited including 44 (62%) males and 27(38%) females. The serawere tested for HBV markers, HBsAg, HBcIgG, HBeAg, and HBeAb. ALT assay and HBV viral load were carried outfor each CHB individual. Results: Based on the analysis of serological, ALT status and viral load, the results showed:immune tolerance 5(7%), eAg+ Immune Clearance 14(19.7%), eAg- Immune Clearance 29 (40.84%) and InactiveCarrier 23 (32.39%). The HBeAg seroconversion was observed in a male age 18 year. Conclusion: The results ofthe natural history of individuals with chronic hepatitis B phases CHB shows immune tolerance (7%), eAg+ ImmuneClearance (19.7%), eAg- Immune Clearance (40.84%) and Inactive Carrier (32.39%). To prevent the consequence ofCHB infection, an individual in immune tolerance phase should be tested periodically for ALT level, HBV markers,HBsAg, HBcIgG, HBeAg, HBeAb and HBV viral load. Then decision-making therapy can be applied for CHB patientsat early stage of immune clearance.     

Vitamin D receptor polymorphisms and renal cancer risk in Central and Eastern Europe

Previous studies investigated the role of vitamin D intake and cancer risk. The kidney is a major organ for vitamin D metabolism, activity, and calcium homeostasis; therefore, it was hypothesized that dietary vitamin D intake and polymorphisms in the vitamin D receptor (VDR) gene may modify renal cell carcinoma (RCC) risk. Three common VDR gene polymorphisms (BsmI, FokI, TaqI) were evaluated among 925 RCC cases and 1192 controls enrolled in a hospital-based case-control study conducted in Central and Eastern Europe. Overall associations with RCC risk were not observed; however, subgroup analyses revealed associations after stratification by median age of diagnosis and family history of cancer. Among subjects over 60 yr, reduced risks were observed among carriers of the f alleles in the FokI single-nucleotide polymorphism (SNP) (odds ratio [OR] = 0.61 for Ff and OR = 0.74 for ff genotypes) compared to subjects with the FF genotype (P trend = 0.04; P interaction = 0.004). Subjects with the BB BsmI genotype and a positive family history of cancer had lower risk compared to subjects with the bb allele (OR = 0.60; 95% CI: 0.33-1.1; P trend = 0.05). Genotype associations with these subgroups were not modified when dietary sources of vitamin D or calcium were considered. Additional studies of genetic variation in the VDR gene are warranted.     

Analysis of IL-10 and IL-6 Gene Polymorphisms and Their Serum Levels in Patients with Brucellosis: A Case Control Study

Background: It seems that polymorphism in the regulatory areas of cytokine genes affects the cytokine production capacity and may play a role in the development of infectious diseases. Interleukin-10 (IL-10) and Interleukin-6 (IL-6), which are cytokines of Th₂, cause the macrophage become inactive and patient conditions get worse.

Methods: In this case‐control study, 60 patients with brucellosis and 60 healthy participants were recruited. IL-10 genotyping at positions -1082 (G/A), -819 (C/T), and -592 (C/A) and IL-6 genotyping at position -174 (G/C) were analyzed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) methods. The levels of IL-10 and IL-6 were determined by a sandwich enzyme-linked immunosorbent assay in sera of study population.

Results: The AA and CC genotypes of the IL-10 gene at positions -1082 G/A and -819 C/T were significantly more frequent in patients in comparison to controls, respectively. The AG genotype of the IL-10 gene at positions -1082 G/A was significantly more frequent in control groups than the patients. Serum levels of IL-10 and IL-6 were significantly more frequent in the patients than in the control groups.

Conclusions: Our study showed that the AA and CC genotypes at positions -1082 and -819 are very important, respectively. These results suggest that IL-10 (-1082 G/A) GG genotype may be considered as a risk factor for brucellosis, while the AG genotype might be a protective factor against the disease.     

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome (WES) and whole genome sequencing (WGS) in four independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter, and thinning of the corpus callosum, we identified four previously unreported homozygous truncating PPP1R21 alleles: c.347delT p.(Ile116Lysfs*25), c.2170_2171insGGTA p.(Ile724Argfs*8), c.1607dupT p.(Leu536Phefs*7), c.2063delA p.(Lys688Serfs*26) and found that PPP1R21 was absent in fibroblasts of an affected individual, supporting the allele's loss of function effect. PPP1R21 function had not been studied except that a large scale affinity proteomics approach suggested an interaction with PIBF1 defective in Joubert syndrome. Our co‐immunoprecipitation studies did not confirm this but in contrast defined the localization of PPP1R21 to the early endosome. Consistent with the subcellular expression pattern and the clinical phenotype exhibiting features of storage diseases, we found patient fibroblasts exhibited a delay in clearance of transferrin‐488 while uptake was normal. In summary, we delineate a novel neurodevelopmental syndrome caused by biallelic PPP1R21 loss of function variants, and suggest a role of PPP1R21 within the endosomal sorting process or endosome maturation pathway.     

Occupational exposure to dusts and risk of renal cell carcinoma

Background:

Occupational exposures to dusts have generally been examined in relation to cancers of the respiratory system and have rarely been examined in relation to other cancers, such as renal cell carcinoma (RCC). Although previous epidemiological studies, though few, have shown certain dusts, such as asbestos, to increase renal cancer risk, the potential for other occupational dust exposures to cause kidney damage and/or cancer may exist. We investigated whether asbestos, as well as 20 other occupational dust exposures, were associated with RCC risk in a large European, multi-center, hospital-based renal case–control study.

Methods:

General occupational histories and job-specific questionnaires were reviewed by occupational hygienists for subject-specific information. Odds ratios (ORs) and 95% confidence intervals (95% CIs) between RCC risk and exposures were calculated using unconditional logistic regression.

Results:

Among participants ever exposed to dusts, significant associations were observed for glass fibres (OR: 2.1; 95% CI: 1.1–3.9), mineral wool fibres (OR: 2.5; 95% CI: 1.2–5.1), and brick dust (OR: 1.5; 95% CI: 1.0–2.4). Significant trends were also observed with exposure duration and cumulative exposure. No association between RCC risk and asbestos exposure was observed.

Conclusion:

Results suggest that increased RCC risk may be associated with occupational exposure to specific types of dusts. Additional studies are needed to replicate and extend findings.     

Greater trochanteric preserving hip arthroplasty in the treatment of infantile septic arthritis: long-term results

Background  

Balanced forces around the hip joint are critical for normal development of the hip joint, so it should be considered in every hip reconstructive procedure.     

Iron‐chelating effect of silymarin in patients with β‐thalassemia major: A crossover randomised control trial

This study aimed to determine the potential iron‐chelating effects of silymarin in patients with β‐thalassemia major receiving standard iron‐chelation therapy. We evaluated whether addition of silymarin to standard iron‐chelation therapy could improve iron burden markers and liver and cardiac function in these patients, via a placebo‐controlled, crossover clinical study. Silymarin (140 mg) or placebo were administered thrice daily to all patients (n = 82) for 12 weeks, and after a 2‐week washout period, patients were crossed over to the other groups. Silymarin efficacy was assessed by measuring serum iron level, ferritin level, total iron‐binding capacity and liver and cardiac function on magnetic resonance imaging. Silymarin treatment resulted in a negative change in the serum iron and ferritin levels and a positive change in the total iron‐binding capacity levels (treatment effect, p < .001, p = .06, and p = .05, respectively). Silymarin treatment led to positive changes in cardiac and liver function in both treatment sequences of study; however, this was not statistically significant. There was a negative change in liver iron concentration in both treatment sequences (treatment effect, p = .02). In conclusion, combined iron‐chelation and silymarin therapy was effective for improving the iron‐burden status in patients with β‐thalassemia major.