Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study / Associação de polimorfismos do gene do receptor de vitamina D com diabetes mellitus tipo 2 na população Taif: um estudo de caso-controle

Abstract Several reasons may underlie the dramatic increase in type2 diabetes mellitus. One of these reasons is the genetic basis and variations. Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes. The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236). Eighty-nine healthy individuals and Fifty-six Type 2 Diabetic (T2D) patients were investigated using RFLP technique for genotyping and haplotyping as well. The distribution of Apal genotypes was not statistically significant among the control (P=0.65) as well as for diabetic patients (P=0.58). For Taql allele frequencies of T allele was 0.61 where of G allele was 0.39. The frequency distribution of Taql genotypes was not statistically significant among the control (P=0.26) as well as diabetic patients (P=0.17). Relative risk of the allele T of Apa1 gene is 1.28 and the odds ratio of the same allele is 1.53, while both estimates were < 1.0 of the allele G. Similarly, with the Taq1 gene the relative risk and the odds ratio values for the allele T are 1.09 and 1.27 respectively and both estimates of the allele C were 0.86 for the relative risk and 0.79 for the odds ratio. The pairwise linkage disequilibrium between the two SNPs Taq1/apa1 was statistically significant in control group (D = 0.218, D' = 0.925 and P value < 0.001) and similar data in diabetic groups (D = 0.2, D' = 0.875 and P value < 0.001). These data suggest that the T allele of both genes Apa1 and Taq1 is associated with the increased risk of type 2 diabetes. We think that we need a larger number of volunteers to reach a more accurate conclusion.

Resumo Várias razões podem estar subjacentes ao aumento dramático da diabetes mellitus tipo 2. Um desses motivos é a base genética e variações. Os polimorfismos do receptor da vitamina D estão associados a diferentes doenças, como artrite reumatoide e diabetes. O objetivo deste estudo é investigar a possível associação de duas mutações identificadas ApaI (rs7975232) e TaqI (rs731236). Oitenta e nove indivíduos saudáveis ​​e 56 pacientes com diabetes tipo 2 (T2D) foram investigados usando a técnica RFLP para genotipagem e haplotipagem também. A distribuição dos genótipos Apal não foi estatisticamente significativa entre o controle (P = 0,65), bem como para os pacientes diabéticos (P = 0,58). Para as frequências do alelo Taql, o alelo T foi de 0,61, onde o alelo G foi de 0,39. A distribuição de frequência dos genótipos Taql não foi estatisticamente significativa entre o controle (P = 0,26), bem como os pacientes diabéticos (P = 0,17). O risco relativo do alelo T do gene Apa1 é 1,28 e a razão de chances do mesmo alelo é 1,53, enquanto ambas as estimativas foram < 1,0 do alelo G. Da mesma forma, com o gene Taq1, os valores de risco relativo e razão de chances para o alelo T são 1,09 e 1,27, respectivamente, e ambas as estimativas do alelo C foram de 0,86 para o risco relativo e 0,79 para o odds ratio. O desequilíbrio de ligação par a par entre os dois SNPs Taq1 / apa1 foi estatisticamente significativo no grupo de controle (D = 0,218, D' = 0,925 e valor P < 0,001) e dados semelhantes em grupos diabéticos (D = 0,2, D' = 0,875 e valor P < 0,001). Esses dados sugerem que o alelo T de ambos os genes Apa1 e Taq1 está associado ao aumento do risco de diabetes tipo 2. Achamos que precisamos de um número maior de voluntários para chegar a uma conclusão mais precisa.

Comorbilidades neurocognitivas y psicológicas en pacientes con epilepsia de la infancia con puntas centrotemporales. Un estudio de casos y controles / Neurocognitive and psychological comorbidities in patients with self-limited centrotemporal spike epilepsy. A case-control study

Introducción: La epilepsia de la infancia con puntas centrotemporales (EIPCT) es la epilepsia focal autolimitada más frecuente. Este estudio tenía como objetivo evaluar los aspectos cognitivos, conductuales y otros aspectos neuropsicológicos de niños con EIPCT, y compararlos con un grupo de control. Sujetos y métodos: Se realizó un estudio de casos y controles entre enero y mayo de 2022. Se seleccionó para su inclusión en el estudio a pacientes con EIPCT, con edades comprendidas entre 6 y 18 años, en seguimiento en nuestro hospital. Por cada caso, se reclutó, de forma aleatoria, a dos controles de la misma edad. Todos los participantes realizaron la prueba EpiTrack Junior®, y sus padres rellenaron la lista de verificación del comportamiento infantil (CBCL). Resultados: Se incluyó a 18 pacientes (edad media: 8,7 ± 1,7 años). En el momento del diagnóstico de EIPCT, el 83% de los casos presentaba un desarrollo psicomotor adecuado, y el 17%, un trastorno del neurodesarrollo. Las puntuaciones del EpiTrack-Junior® y de la escala total de problemas de la CBCL no se vieron influidas por la lateralidad del foco epiléptico ni por el número de crisis. El 61% de los casos mostró un trastorno leve o significativo en la prueba EpiTrack-Junior® frente al 44% de los controles (p = 0,712), y el 39% de los casos frente al 14% de los controles tuvieron puntuaciones ‘clínicamente significativas’ en la escala total de problemas de la CBCL. Conclusiones: Aunque este estudio no encontró diferencias estadísticamente significativas entre casos y controles, cabe señalar que la mayor parte de los pacientes con EIPCT presentaba un deterioro leve o significativo en las funciones ejecutivas. Un porcentaje considerable de casos se encontraba en el rango patológico en cuanto a problemas emocionales/conductuales. Este estudio destaca la importancia de examinar los problemas cognitivos, conductuales y emocionales de los pacientes con EIPCT.(AU)

Introduction: Self-limited epilepsy with centrotemporal spikes (SeLECTS) is the most frequent self-limited focal epilepsy. This study aimed to assess the cognitive, behavioral, and other neuropsychological aspects of children with SeLECTS, and compare them with a control group. Subjects and methods: A case-control study was carried out between January and May 2022. Patients with SeLECTS, aged between 6 and 18 years, and followed-up at our hospital were selected for inclusion in the study. For each case, two age-matched controls were opportunistically recruited. All the participants performed the EpiTrack Junior® test, and their parents filled out the Child Behavior Checklist (CBCL). Results: Eighteen patients were included (mean age: 8.7 ± 1.7 years). At SeLECTS’ diagnosis, 83% of cases had adequate psychomotor development, and 17% had a neurodevelopmental disorder. The EpiTrack-Junior® and the Total Problems CBCL scores were not influenced by the laterality of the epileptic focus nor by the number of seizures. 61% of cases showed mild or significant impairment in the EpiTrack-Junior® test versus 44% of controls (p = 0.712), and 39% of cases vs. 14% of controls had ‘clinically significant’ scores on the Total Problems CBCL scale (p = 0.087). Conclusions: Although this study did not find statistically significant differences between cases and controls, it should be noted that most patients with SeLECTS had a mild or significant disability in executive functions. A considerable percentage of cases were in the pathological range regarding emotional/behavioral problems. This study highlights the importance of screening the cognitive, behavioral, and emotional problems in all patients with SeLECTS.(AU)

Factores de riesgo asociados a infección periprotésica en el paciente con fractura del cuello femoral: estudio de casos y controles / Risk factors associated with periprosthetic infection in patients with femoral neck fracture: A case-control study

Antecedentes y objetivo: La infección es una de las complicaciones locales más importantes en el paciente con fractura del cuello femoral tratada con una artroplastia. El objetivo del presente estudio es describir y analizar posibles factores de riesgo que podrían estar implicados en la infección periprotésica del paciente con fractura del cuello femoral. Material y métodos: Se realizó un estudio de casos y controles retrospectivo que incluye a pacientes con fractura del cuello femoral tratada con una artroplastia en el periodo comprendido entre enero de 2015 y diciembre de 2017. Se definieron como casos a los pacientes con fractura del cuello femoral que tras someterse a una artroplastia (hemiartroplastia o artroplastia total de cadera) tuvieron como desenlace una infección periprotésica, cuyo diagnóstico se llevó a cabo atendiendo a los criterios mayores y menores descritos en el Consenso Internacional de Infecciones Musculoesqueléticas (Philadelphia 2018). Con la intención de atenuar la influencia de variables que podrían considerarse confusoras, se realizó un análisis multivariante. Resultados: Se apreció una asociación estadísticamente significativa entre infección periprotésica y determinadas variables presentes en el momento del ingreso, entre las que se encuentran la presencia de anemia moderada o severa (OR: 10,91; IC95%: 1,07-111,50; p=0,007), trombocitopenia (OR: 27,72; IC95%: 3,48-221,01; p=0,002), el antecedente tromboembólico (OR: 8,80; IC95%: 1,31-59,38; p=0,026), el trastorno ansioso-depresivo en tratamiento con 2 o 3 fármacos (OR: 21,36; IC95%: 3,65-125,12; p=0,001) y la hepatopatía (OR: 32,04; IC95%: 2,59-396,29; p=0,007). Conclusiones: La infección periprotésica en el paciente con fractura del cuello femoral tratado con una artroplastia podría relacionarse con la presencia de determinadas variables en el momento del ingreso hospitalario, entre las que se encuentran la anemia moderada o severa...(AU)

Background: Infection is one of the most important local complications in the patient with femoral neck fracture treated with arthroplasty. The aim of the present study is to describe and analyze possible risk factors that could be involved in periprosthetic infection in the patient with femoral neck fracture. Methods: A retrospective case-control study was performed including patients with femoral neck fractures treated with arthroplasty in the period between January 2015 and December 2017. Cases were defined as patients with femoral neck fracture who after undergoing arthroplasty (hemiarthroplasty or total hip arthroplasty) had a periprosthetic infection, whose diagnosis was carried out according to the major and minor criteria described in the International Consensus on Musculoskeletal Infections (Philadelphia 2018). In order to mitigate the influence of variables that could be considered confounding variables, a multivariate analysis was carried out. Outcomes: A statistically significant association was found between periprosthetic infection and certain variables present at the time of admission, including the presence of moderate or severe anaemia (OR: 10.91; 95%CI: 1.07-111.50; P=.007), thrombocytopenia (OR: 27.72; 95%CI: 3.48-221.01; P=.002), history of thromboembolism event (OR: 8.80; 95%CI: 1.31-59.38; P=.026), anxious-depressive disorder in treatment with two or three drugs (OR: 21.36; 95%CI: 3.65-125.12; P=.001) and liver disease (OR: 32.04; 95%CI: 2.59-396.29; P=.007). Conclusions: Periprosthetic infection in the patient with femoral neck fracture treated with arthroplasty could be related to the presence of certain variables at the time of hospital admission, including moderate or severe anaemia, thrombocytopenia, history of thromboembolic event, anxious-depressive disorder in treatment with two or three drugs or liver disease.(AU)

[Translated article] Risk factors associated with periprosthetic infection in patients with femoral neck fracture: A case–control study / Factores de riesgo asociados a infección periprotésica en el paciente con fractura del cuello femoral: estudio de casos y controles

Antecedentes y objetivo: La infección es una de las complicaciones locales más importantes en el paciente con fractura del cuello femoral tratada con una artroplastia. El objetivo del presente estudio es describir y analizar posibles factores de riesgo que podrían estar implicados en la infección periprotésica del paciente con fractura del cuello femoral. Material y métodos: Se realizó un estudio de casos y controles retrospectivo que incluye a pacientes con fractura del cuello femoral tratada con una artroplastia en el periodo comprendido entre enero de 2015 y diciembre de 2017. Se definieron como casos a los pacientes con fractura del cuello femoral que tras someterse a una artroplastia (hemiartroplastia o artroplastia total de cadera) tuvieron como desenlace una infección periprotésica, cuyo diagnóstico se llevó a cabo atendiendo a los criterios mayores y menores descritos en el Consenso Internacional de Infecciones Musculoesqueléticas (Philadelphia 2018). Con la intención de atenuar la influencia de variables que podrían considerarse confusoras, se realizó un análisis multivariante. Resultados: Se apreció una asociación estadísticamente significativa entre infección periprotésica y determinadas variables presentes en el momento del ingreso, entre las que se encuentran la presencia de anemia moderada o severa (OR: 10,91; IC95%: 1,07-111,50; p=0,007), trombocitopenia (OR: 27,72; IC95%: 3,48-221,01; p=0,002), el antecedente tromboembólico (OR: 8,80; IC95%: 1,31-59,38; p=0,026), el trastorno ansioso-depresivo en tratamiento con 2 o 3 fármacos (OR: 21,36; IC95%: 3,65-125,12; p=0,001) y la hepatopatía (OR: 32,04; IC95%: 2,59-396,29; p=0,007). Conclusiones: La infección periprotésica en el paciente con fractura del cuello femoral tratado con una artroplastia podría relacionarse con la presencia de determinadas variables en el momento del ingreso hospitalario, entre las que se encuentran la anemia moderada o severa...(AU)

Background: Infection is one of the most important local complications in the patient with femoral neck fracture treated with arthroplasty. The aim of the present study is to describe and analyze possible risk factors that could be involved in periprosthetic infection in the patient with femoral neck fracture. Methods: A retrospective case-control study was performed including patients with femoral neck fractures treated with arthroplasty in the period between January 2015 and December 2017. Cases were defined as patients with femoral neck fracture who after undergoing arthroplasty (hemiarthroplasty or total hip arthroplasty) had a periprosthetic infection, whose diagnosis was carried out according to the major and minor criteria described in the International Consensus on Musculoskeletal Infections (Philadelphia 2018). In order to mitigate the influence of variables that could be considered confounding variables, a multivariate analysis was carried out. Outcomes: A statistically significant association was found between periprosthetic infection and certain variables present at the time of admission, including the presence of moderate or severe anaemia (OR: 10.91; 95%CI: 1.07-111.50; P=.007), thrombocytopenia (OR: 27.72; 95%CI: 3.48-221.01; P=.002), history of thromboembolism event (OR: 8.80; 95%CI: 1.31-59.38; P=.026), anxious-depressive disorder in treatment with two or three drugs (OR: 21.36; 95%CI: 3.65-125.12; P=.001) and liver disease (OR: 32.04; 95%CI: 2.59-396.29; P=.007). Conclusions: Periprosthetic infection in the patient with femoral neck fracture treated with arthroplasty could be related to the presence of certain variables at the time of hospital admission, including moderate or severe anaemia, thrombocytopenia, history of thromboembolic event, anxious-depressive disorder in treatment with two or three drugs or liver disease.(AU)

Nutritional status of children and adolescents with Type 1 Diabetes Mellitus in Baghdad: a case-control study.

Diabetes mellitus (DM) is a major life-long non-communicable illness correlated with obesity and chronic undernutrition. It is particularly important to monitor the nutritional status of children with type 1 diabetes mellitus (T1DM), as they are still growing and may be affected by the disease or associated conditions like celiac disease. This study aimed to evaluate the nutritional status of children and adolescents with T1DM in Baghdad city and identify possible risk factors for undernutrition. A single-center, case-control study was conducted in Central Child's Teaching Hospital, Baghdad, Iraq, over 9 months from November 2021 to July 2022. The study included patients with T1DM and healthy controls. Detailed history, clinical examination, and anthropometric measures were performed for all participants in the study. The mean age of the sample was 10.0 ±3.73 years and 8.68±3.1 years in diabetic patients and controls, respectively. Anthropometric measures in patients with type 1 diabetes were significantly lower than those of controls (P<0.001). All patients within the undernourished group were from large-size families compared with 75.76% of the normally nourished group, with a significant difference. The mean age of disease onset in the normal nourished group was 6.61 ± 2.78 years which was significantly earlier than that of the undernourished group (8.83 ± 2.89). Weight-for-age and BMI z-score had a significant negative correlation with HbA1c (r=-0.312, p=0.004, and r=-0.295, p=0.006, respectively). Patients with T1DM had significantly lower anthropometric measures than the normal population. Older children, female gender, large family size, and disease duration are independent predictors of undernutrition in T1DM. BMI and weight-for-age have a significant negative correlation with metabolic control of diabetes represented by HbA1c.

The relationship between maternal health and neonatal low birth weight in Amman, Jordan: a case-control study.

This study aimed to examine the relationship between maternal health during pregnancy and low birth weight (LBW), as well as the impact of COVID-19 on the socio-economic status of pregnant women and its effect on LBW. The study was conducted in Amman, Jordan, and included 2260 mothers who visited Abu-Nusair comprehensive health center between January and December 2020. A matched case-control design was used with 72 cases and 148 controls selected for data collection through medical records and face-to-face interviews. Results showed that factors such as a monthly income of 400 JD or less, living with an extended family, exposure to passive smoking, maternal weight gain of 6-10 kg, maternal anemia, maternal hypertension, delivery by cesarean section, and previous history of LBW newborns were positively associated with an increased risk of LBW. Conversely, factors such as a monthly income above 700 JD, living with a core family, daily intake of iron, calcium, and vitamin D, prenatal visits, healthy food intake, and planning for pregnancy were associated with a lower risk of LBW. COVID-19 infection and its effects on work, family finances, antenatal care visits, and food supply were also positively linked with LBW. In conclusion, socioeconomic status, maternal health, COVID-19, and its impacts were significant risk factors for LBW.

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

OBJECTIVES: Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in protein-coding regions and clinical severity in Thai patients. METHODS: From April to November 2018, a case-control study was conducted based on clinical information and DNA samples collected from Thai patients with hemoglobin E/beta-thalassemia over the age of four years. Cases were patients with severe symptoms, while patients with mild symptoms acted as controls. Whole exome sequencing and rare variant association study were used to analyze the data. RESULTS: All 338 unrelated patients were classified into 165 severe and 173 mild cases. Genotypes comprised 81.4% of hemoglobin E/beta-thalassemia, 2.7% of homozygous or compound heterozygous beta-thalassemia, and 0.3% of (뫧)0 thalassemia Hb E while 15.7% of samples were not classified as beta-thalassemia. A novel cis heterozygotes of IVS I-7 (A > T) and codon 26 (G > A) was identified. Six genes (COL4A3, DLK1, FAM186A, PZP, THPO, and TRIM51) showed the strongest associations with severity (observed p-values of <0.05; significance lost after correction for multiplicity). Among known modifiers, KLF1 variants were found in four mild patients and one severe patient. CONCLUSION: No rare variants were identified as contributors to the clinical heterogeneity of hemoglobin E/beta-thalassemia. KLF1 mutations are potential genetic modifiers. Studies to identify genetic factors are still important and helpful for predicting severity and developing targeted therapy.

Identifying Replicable Subgroups in Neurodevelopmental Conditions Using Resting-State Functional Magnetic Resonance Imaging Data.

Importance: Neurodevelopmental conditions, such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), have highly heterogeneous and overlapping phenotypes and neurobiology. Data-driven approaches are beginning to identify homogeneous transdiagnostic subgroups of children; however, findings have yet to be replicated in independently collected data sets, a necessity for translation into clinical settings. Objective: To identify subgroups of children with and without neurodevelopmental conditions with shared functional brain characteristics using data from 2 large, independent data sets. Design, Setting, and Participants: This case-control study used data from the Province of Ontario Neurodevelopmental (POND) network (study recruitment began June 2012 and is ongoing; data were extracted April 2021) and the Healthy Brain Network (HBN; study recruitment began May 2015 and is ongoing; data were extracted November 2020). POND and HBN data are collected from institutions across Ontario and New York, respectively. Participants who had diagnoses of ASD, ADHD, and OCD or were typically developing (TD); were aged between 5 and 19 years; and successfully completed the resting-state and anatomical neuroimaging protocol were included in the current study. Main Outcomes and Measures: The analyses consisted of a data-driven clustering procedure on measures derived from each participant's resting-state functional connectome, performed independently on each data set. Differences between each pair of leaves in the resulting clustering decision trees in the demographic and clinical characteristics were tested. Results: Overall, 551 children and adolescents were included from each data set. POND included 164 participants with ADHD; 217 with ASD; 60 with OCD; and 110 with TD (median [IQR] age, 11.87 [9.51-14.76] years; 393 [71.2%] male participants; 20 [3.6%] Black, 28 [5.1%] Latino, and 299 [54.2%] White participants) and HBN included 374 participants with ADHD; 66 with ASD; 11 with OCD; and 100 with TD (median [IQR] age, 11.50 [9.22-14.20] years; 390 [70.8%] male participants; 82 [14.9%] Black, 57 [10.3%] Hispanic, and 257 [46.6%] White participants). In both data sets, subgroups with similar biology that differed significantly in intelligence as well as hyperactivity and impulsivity problems were identified, yet these groups showed no consistent alignment with current diagnostic categories. For example, there was a significant difference in Strengths and Weaknesses ADHD Symptoms and Normal Behavior Hyperactivity/Impulsivity subscale (SWAN-HI) between 2 subgroups in the POND data (C and D), with subgroup D having increased hyperactivity and impulsivity traits compared with subgroup C (median [IQR], 2.50 [0.00-7.00] vs 1.00 [0.00-5.00]; U = 1.19 × 104; P = .01; η2 = 0.02). A significant difference in SWAN-HI scores between subgroups g and d in the HBN data was also observed (median [IQR], 1.00 [0.00-4.00] vs 0.00 [0.00-2.00]; corrected P = .02). There were no differences in the proportion of each diagnosis between the subgroups in either data set. Conclusions and Relevance: The findings of this study suggest that homogeneity in the neurobiology of neurodevelopmental conditions transcends diagnostic boundaries and is instead associated with behavioral characteristics. This work takes an important step toward translating neurobiological subgroups into clinical settings by being the first to replicate our findings in independently collected data sets.

Upper Gastrointestinal Series in the Workup for Pediatric Gastrostomy Placement: Does it Delay Care?

INTRODUCTION: Upper gastrointestinal (UGI) series is often part of the workup prior to the placement of gastrostomy tubes in children. Prior studies have suggested UGI to be limited in utility and an extra financial burden. The goal of this study was to investigate the utility and cost of UGI studies. METHODS: A retrospective, case control study of patients aged < 18 y receiving gastrostomy tubes at a free-standing children's hospital between 2012 and 2017. Total costs were obtained from the Pediatric Health Information System. RESULTS: Six hundred eighty five patients underwent gastrostomy placement during the study period. UGI was obtained in 90.8% of patients; 23.6% of studies were abnormal. The most common abnormal findings were reflux (13.8%) and abnormal anatomy (5.8%). The median time to obtain a UGI was 0.82 d (interquartile range 0.22-1.05). Obtaining a UGI was associated with delayed care in 104 patients (15.2%). If a delay was encountered, median time was 2.47 d (interquartile range 1.86-2.99). Ladd's procedures were performed in 12 patients (1.7%) found to have malrotation on UGI. None of the 63 patients who did not undergo UGI required a Ladd's procedure. Patients that had a UGI did not experience an increase in overall length of stay (14.3 versus 15.6 d, excluding intensive care unit patients), operative time (34 versus 39 min), or a change in rate of operative complications (11.5% versus 14.3%). In addition, UGI did not have a significant impact on total adjusted costs ($49,844 versus $83,438 without UGI, P = 0.12) but did slightly increase total adjusted costs per day ($2212 versus $1999 without UGI, P = 0.01). CONCLUSIONS: UGI prior to gastrostomy placement in children rarely identified abnormal findings that changed the operative plan, was associated with delayed care in 15% of patients, and was associated with slightly increased costs per day. Further analyses to identify subsets of children that may benefit from routine UGI are warranted.

Association of TLR4 and TLR9 gene polymorphisms with cervical HR-HPV infection status in Chinese Han population.

BACKGROUND: Toll-like receptors (TLRs) may be involved in the natural history of human papillomavirus (HPV) infection. In our study, we aimed to investigate the association of TLR4 (rs10116253, rs1927911, rs10759931) and TLR9 (rs187084, rs352140) gene polymorphisms with cervical persistent high-risk HPV (HR-HPV) infection, as well as multiple HR-HPV infections. METHODS: A total of 269 study subjects were enrolled and grouped by retrospectively analyzing the HR-HPV testing results and other clinical data of 2647 gynecological outpatients from Jingzhou Hospital Affiliated to Yangtze University. We conducted a case-control study to compare the role of TLR4/TLR9 gene polymorphisms between HR-HPV transient and persistent infections, as well as between HR-HPV single and multiple infections. HR-HPV genotypes were detected using Real-time polymerase chain reaction (RT-PCR). PCR-restriction fragment length polymorphism (PCR-RFLP) was used to determine TLR4 and TLR9 gene polymorphisms. Analyses of the different outcome variables (HR-HPV infection status and time for HR-HPV clearance) with respect to TLR4/TLR9 polymorphisms were carried out. Logistic regression analysis was used to determine the association of TLR4/TLR9 genotypes and alleles with HR-HPV infection status. The Kaplan-Meier method with the log-rank test was used to analyze the relationship between TLR4/TLR9 genotypes and the time for HR-HPV clearance. RESULTS: The mutant genotypes of TLR9 rs187084 and rs352140 were associated with persistent (rs187084: CT and CT+CC; rs352140: CT and CT+TT) and multiple (rs187084: CT and CT+CC; rs352140: CT+TT) (all P < 0.05) HR-HPV infection. However, no association was found between TLR4 polymorphisms and HR-HPV infection status. Kaplan-Meier time to HR-HPV clearance analysis demonstrated that women carrying rs187084 and rs352140 mutant genotypes take longer duration to clear HR-HPV infection compared with wild-type genotype carriers (P1 = 0.012; P2 = 0.031). CONCLUSION: Our results suggested that TLR9 polymorphisms, but not TLR4, were associated with cervical persistent and multiple HR-HPV infections, which could be useful as a potential predictor of HR-HPV infection status.

Comparison of diagnosis and treatment of MSSA and MRSA osteomyelitis in children: a case-control study of 64 patients.

BACKGROUND: We aimed to compare the clinical characteristics of acute osteomyelitis caused by methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-sensitive Staphylococcus aureus (MSSA) in children. METHODS: We retrospectively analyzed the data of 64 children treated between September 2017 and June 2021. Based on the bacterial culture results, they were divided into MRSA and MSSA infection groups. Both groups were treated with debridement and vacuum-assisted closure for negative pressure drainage. Parameters including clinical manifestations, number of operations, length of hospital stay, inflammatory indicators, and concurrent arthritis were compared between the two groups. RESULTS: In the MRSA infection group, there was one case each of residual joint stiffness and pathological fracture. Conversely, the MSSA group had two cases of residual joint stiffness. The MRSA infection group was more prone to high fever (t = 3.61, P = 0.001), white blood cell count elevation (t = 2.41, P = 0.022), arthritis (X2 = 7.48, P = 0.013), metastatic abscess (X2 = 4.78, P = 0.042), and a shorter length of progression from onset to admission (t = - 2.04, P = 0.046); however, it required more surgeries (t = 2.68, P = 0.009) and longer hospital stay (t = 2.04, P = 0.045). CONCLUSIONS: Pediatric acute osteomyelitis caused by MRSA is more prone to cause high fever and markedly elevated of white blood cell count, and is often accompanied with suppurative infection of adjacent joints and metastatic abscesses, thus requiring more surgeries and longer hospital stay.

Falls leading to fracture and nutrition among older adults: a case-control study.

OBJECTIVES: Injurious falls, especially those leading to bone fracture, are major causes of death and disability among older people. Our aim was to measure the association of nutritional factors and physical activity with falls leading to fracture among Iranian older adults. METHODS: This is the second phase of a previously published case-control study on 300 patients and 590 controls. RESULTS: In addition to the socio-economic factors that were reported before, our results revealed that consumption of fish, vegetables, fruits, and nuts reduced the risk of falling, whereas consumption of cheese, red meat, and sweets raised the risk of falls among the participants. CONCLUSION: The results of our study suggested that diets rich in fish meat fruits and vegetables should be encouraged in the everyday life of older adults. We suggest health officials to take these important results into consideration when planning protective measures.

Internet Addiction in Constipated Adolescents.

BACKGROUND: This study aims to assess internet addiction among adolescents with functional constipation and its relationship with sociodemographic and family factors. METHODS: In this case-control study, 57 and 35 adolescents with and without functional constipation, respectively, were recruited. Functional constipation was diagnosed by applying the Rome IV criteria. Previously validated Young's Internet Addiction Test-Short Form and Parent-Child Internet Addiction Test were completed, and sociodemographic data forms were filled out by all participants. RESULTS: According to the Parent-Child Internet Addiction Test questionnaire, 8.8% (n = 5) of the adolescents with FC suffered from internet addiction, whereas none of the healthy adolescents had internet addiction. The Young's Internet Addiction Test-Short Form survey reported internet addiction among 19.3% (n = 11) of the constipated adolescents and 17.1% (n = 6) of the healthy peers. The ratio of adolescents with limited symptoms and internet addiction in the functional constipation group was as high as 40.4%, according to Young's Internet Addiction Test-Short Form, and adolescents with functional constipation accompanied by pathological and problematic internet use was 24.6%, according to Parent-Child Internet Addiction Test. Although there was no significant difference in the internet addiction ratio between functional constipation and controls, our findings indicated that adolescents with functional constipation were suffering from high internet addiction rates. CONCLUSION: The evaluation of Young's Internet Addiction Test-Short Form and Parent-Child Internet Addiction Test surveys showed high internet usage problems, 40.4% and 24.6% in adolescents with functional constipation. According to adolescents' self-assessment, the internet addiction rate is higher but not significantly higher than their healthy peers. Therefore, internet addiction should be considered while treating adolescents with functional constipation, and clinicians should consider the opinions of adolescents besides their parents.

Association of Lifetime Exposure to Glyphosate and Aminomethylphosphonic Acid (AMPA) with Liver Inflammation and Metabolic Syndrome at Young Adulthood: Findings from the CHAMACOS Study.

BACKGROUND: The prevalence of liver disorders and metabolic syndrome has increased among youth. Glyphosate, the most widely used herbicide worldwide, could contribute to the development of these conditions. OBJECTIVE: We aimed to assess whether lifetime exposure to glyphosate and its degradation product, aminomethylphosphonic acid (AMPA), is associated with elevated liver transaminases and metabolic syndrome among young adults. METHODS: We conducted a prospective cohort study (n=480 mother-child dyads) and a nested case-control study (n=60 cases with elevated liver transaminases and 91 controls) using data from the Center for the Health Assessment of Mothers and Children of Salinas (CHAMACOS). We measured glyphosate and AMPA concentrations in urine samples collected during pregnancy and at child ages 5, 14, and 18 y from cases and controls. We calculated glyphosate residue concentrations: [glyphosate + (1.5×AMPA)]. We estimated the amount of agricultural-use glyphosate applied within a 1-km radius of every residence from pregnancy to age 5 y for the full cohort using California Pesticide Use Reporting data. We assessed liver transaminases and metabolic syndrome at 18 y of age. RESULTS: Urinary AMPA at age 5 y was associated with elevated transaminases [relative risk (RR) per 2-fold increase=1.27, 95% confidence interval (CI): 1.06, 1.53] and metabolic syndrome (RR=2.07, 95% CI: 1.38, 3.11). Urinary AMPA and glyphosate residues at age 14 y were associated with metabolic syndrome [RR=1.80 (95% CI: 1.10, 2.93) and RR=1.88 (95% CI: 1.03, 3.42), respectively]. Overall, a 2-fold increase in urinary AMPA during childhood was associated with a 14% and a 55% increased risk of elevated liver transaminases and metabolic syndrome, respectively. Living near agricultural glyphosate applications during early childhood (birth to 5 y of age) was also associated with metabolic syndrome at age 18 y in the case-control group (RR=1.53, 95% CI: 1.16, 2.02). DISCUSSION: Childhood exposure to glyphosate and AMPA may increase risk of liver and cardiometabolic disorders in early adulthood, which could lead to more serious diseases later in life. https://doi.org/10.1289/EHP11721.

Hepatic and serum branched-chain fatty acid profile in patients with nonalcoholic fatty liver disease: A case-control study.

OBJECTIVE: Alterations in the hepatic lipidome are a crucial factor involved in the pathophysiology of nonalcoholic fatty liver disease (NAFLD). The aim of this study was to evaluate the serum and hepatic profile of branched-chain fatty acids (BCFAs) in patients with different stages of NAFLD. METHODS: This was a case-control study performed in 27 patients without NAFLD, 49 patients with nonalcoholic fatty liver, and 17 patients with nonalcoholic steatohepatitis, defined by liver biopsies. Serum and hepatic levels of BCFAs were analyzed by gas chromatography-mass spectrometry. The hepatic expression of genes involved in the endogenous synthesis of BCFAs was analyzed by real-time quantitative polymerase chain reaction (RT-qPCR). RESULTS: A significant increase in hepatic BCFAs was found in subjects with NAFLD compared with those without NAFLD; no differences were observed in serum BCFAs between study groups. Trimethyl BCFAs, iso-BCFAs, and anteiso-BCFAs were increased in subjects with NAFLD (either nonalcoholic fatty liver or nonalcoholic steatohepatitis) compared with those without NAFLD. Correlation analysis showed a relationship between hepatic BCFAs and the histopathological diagnosis of NAFLD, as well as other histological and biochemical parameters related to this disease. Gene expression analysis in liver showed that the mRNA levels of BCAT1, BCAT2, and BCKDHA were upregulated in patients with NAFLD. CONCLUSIONS: These results suggest that the increased production of liver BCFAs might be related to NAFLD development and progression.

Association Between CYP1A1 Polymorphisms and Esophageal Cancer Susceptibility: A Case-control Study.

BACKGROUND/AIM: Environmental and genetic factors (such as polymorphisms) contribute to the development of esophageal cancer (EC), but the disease's molecular genetic markers are not fully understood. The purpose of this study was to investigate previously unstudied cytochrome P450 (CYP)1A1 polymorphisms (rs2606345, rs4646421 and rs4986883) in EC. MATERIALS AND METHODS: We performed real-time polymerase chain reaction (qPCR) to identify CYP1A1 polymorphisms (rs2606345, rs4646421, and rs4986883) in 100 patients and 100 controls. RESULTS: Smoking and tandoor fumes were significantly higher in all EC and esophageal squamous cell carcinoma (ESCC) patients compared to the control group (p<0.0001). The risk of EC was two-fold higher in hot tea drinkers compared to non-drinkers, but this factor was not significant for ESCC or esophageal adenocarcinoma (EAC) (p>0.05). The rs4986883 T>C polymorphism was not found in our population. The rs2606345 C allele was significantly associated with EC risk in men, and C-carriers who drank hot black tea had a nearly threefold higher risk of EC than non-drinkers. In addition, EC risk in hot black tea drinkers was approximately 12 times higher in rs4646421 A carriers than in non-A carriers, and approximately 17 times higher in the presence of both rs2606345 C allele and rs4646421 A allele. Furthermore, the rs2606345 AA genotype may act as a protective factor for the rs4646421 GG genotype. CONCLUSION: Among the CYP1A1 polymorphisms, rs2606345 may increase the risk of EC only in men. The risk of EC in hot tea drinkers may increase in the presence of rs4986883 and rs2606345 polymorphisms.

Objective Sleep in Atopic Dermatitis: A Meta-Analysis.

Background: The evidence regarding objective sleep especially for the sleep architecture in atopic dermatitis (AD) was limited and not well summarized. Objective: To determine the objective sleep in AD patients as well as its confounders. Methods: We searched PubMed/Medline, Embase, and PsycInfo up to May 2021. Case-control studies or cohort studies that recruited AD patients and healthy controls and reported objective sleep parameters assessed by polysomnography or actigraphy were included. Results: A total of 7 studies with 173 AD patients and 122 controls were analyzed. Specifically, AD patients have significantly decreased total sleep time (TST, -13.797 minutes) and sleep efficiency (SE, -5.589%) accompanied by prolonged wake time after sleep onset (WASO, 29.972 minutes) and rapid eye movement sleep latency (31.894 minutes, all P < 0.05). Furthermore, subgroup analyses showed more WASO in severe AD subgroup compared with nonsevere AD subgroup (51.323 minutes vs 20.966 minutes, P = 0.032), less SE in male-majority subgroup compared with female-majority subgroup (-9.443% vs -4.997%, P = 0.018), and less TST in adult subgroup compared with child subgroup (-41.045 vs -4.016 minutes, P = 0.037). Conclusion: Objective sleep was worse in AD patients, especially among patients with severe AD, males, and adults. AD appears to more predispose difficulty in sleep maintenance rather than falling asleep.

Impact of Neuroeffector Adrenergic Receptor Polymorphisms on Incident Ventricular Fibrillation During Acute Myocardial Ischemia.

Background Cardiac adrenergic receptor gene polymorphisms have the potential to influence risk of developing ventricular fibrillation (VF) during ST-segment-elevation myocardial infarction, but no previous study has comprehensively investigated those most likely to alter norepinephrine release, signal transduction, or biased signaling. Methods and Results In a case-control study, we recruited 953 patients with ST-segment-elevation myocardial infarction without previous cardiac history, 477 with primary VF, and 476 controls without VF, and genotyped them for ADRB1 Arg389Gly and Ser49Gly, ADRB2 Gln27Glu and Gly16Arg, and ADRA2C Ins322-325Del. Within each minor allele-containing genotype, haplotype, or 2-genotype combination, patients with incident VF were compared with non-VF controls by odds ratios (OR) of variant frequencies referenced against major allele homozygotes. Of 156 investigated genetic constructs, 19 (12.2%) exhibited significantly (P<0.05) reduced association with incident VF, and none was associated with increased VF risk except for ADRB1 Gly389 homozygotes in the subset of patients not receiving ß-blockers. ADRB1 Gly49 carriers (prevalence 23.0%) had an OR (95% CI) of 0.70 (0.49-0.98), and the ADRA2C 322-325 deletion (Del) carriers (prevalence 13.5%) had an OR of 0.61 (0.39-0.94). When present in genotype combinations (8 each), both ADRB1 Gly49 carriers (OR, 0.67 [0.56-0.80]) and ADRA2C Del carriers (OR, 0.57 [0.45- 0.71]) were associated with reduced VF risk. Conclusions In ST-segment-elevation myocardial infarction, the adrenergic receptor minor alleles ADRB1 Gly49, whose encoded receptor undergoes enhanced agonist-mediated internalization and ß-arrestin interactions leading to cardioprotective biased signaling, and ADRA2C Del322-325, whose receptor causes disinhibition of norepinephrine release, are associated with a lower incidence of VF. Registration URL: https://clinicaltrials.gov; Unique identifier: NCT00859300.

CYP2D6 genetic polymorphisms in Saudi systemic lupus erythematosus patients: A cross-sectional study.

OBJECTIVES: To determine the prevalence of selected single nucleotide polymorphisms (rs1080985, rs28624811, rs1065852, rs28371725, and rs1135840) in cytochrome P450 2D6 (CYP2D6) gene among Saudi systemic lupus erythematosus (SLE) patients and to investigate the association between the genetic variants and clinical features of SLE. METHODS: This cross-sectional study was carried out on adult Saudi patients at King Khalid University Hospital, Riyadh, Saudi Arabia. Patients with confirmed SLE based on the 2012 Systemic Lupus International Collaborating Clinics classification criteria were included in the study. Peripheral blood was collected for genomic deoxyribonucleic acid extraction and TaqMan® technologies were used for target genotyping. For statistical analysis, differences in genotype frequencies were determined using the Chi-square test, and the association between the variant genotypes and SLE features was evaluated using logistical regression models. RESULTS: There were 107 participants included in this study. Overall, the most predominant (23.4%) recessive genotype was AA in rs28624811, and the least prevalent (1.9%) recessive genotype was TT in rs28371725. Moreover, the variant rs1080985 genotypes (GC or CC) were significantly associated with the presence of serositis manifestation (OR=3.15, p=0.03), even after adjusting for age and gender. However, the dominant rs28624811 genotype (GG) was associated with renal involvement (OR=2.56, p=0.03). CONCLUSION: Systemic lupus erythematosus patients carrying CYP2D6 variants might be considered at risk for certain manifestations of SLE. Further studies are needed to investigate the implication of these genetic variations in clinical outcomes and drug response.