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.

Factors associated with extubation failure in an intensive care unit: a case-control study / Fatores associados à falha de extubação em unidade de terapia intensiva: estudo de caso-controle / Factores asociados al fracaso de la extubación en unidad de cuidados intensivos: estudio de caso y control

Abstract Objective: to investigate the factors associated with extubation failure of patients in the intensive care unit. Method: unpaired, longitudinal, retrospective and quantitative case-control with the participation of 480 patients through clinical parameters for ventilator weaning. Data were analyzed by: Fisher's exact test or the chi-square test; unpaired two-tailed Student's t test; and Mann-Whitney test. Significant P values lower than or equal to 0.05 were admitted. Results: of the patients, 415 (86.5%) were successful and 65 (13.5%) failed. Success group: the most negative fluid balance, APACHE II in 20 (14-25), weak cough in 58 (13.9%). Failure group: the most positive fluid balance, APACHE II in 23 (19-29), weak cough in 31 (47.7%), abundant amount of pulmonary secretions in 47.7%. Conclusion: positive fluid balance and the presence of inefficient cough or inability to clear the airway were predictors of extubation failure.

Resumo Objetivo: investigar os fatores associados à falha de extubação de pacientes na unidade de terapia intensiva. Método: caso-controle não pareado, longitudinal, retrospectivo e quantitativo com a participação de 480 pacientes por meio de parâmetros clínicos para desmame ventilatório. Dados analisados por: Teste Exato de Fisher ou o teste Qui-quadrado; teste t de Student bicaudal não pareado; e teste de Mann-Whitney. Admitiram-se significantes valores de P menores ou iguais a 0,05. Resultados: dos pacientes, 415 (86,5%) tiveram sucesso e 65 (13,5%) falharam. Grupo sucesso: balanço hídrico mais negativo, APACHE II em 20 (14-25), tosse fraca em 58 (13,9%). Grupo falha: balanço hídrico mais positivo, APACHE II em 23 (19-29), tosse fraca em 31 (47,7 %), quantidade abundante de secreção pulmonar em 47,7 %. Conclusão: o balanço hídrico positivo e a presença de tosse ineficiente ou incapacidade de higienizar a via aérea foram preditores de falhas de extubação.

Resumen Objetivo: investigar los factores asociados al fracaso de la extubación de pacientes en la unidad de cuidados intensivos. Método: caso y control no apareado, longitudinal, retrospectivo y cuantitativo con la participación de 480 pacientes mediante parámetros clínicos para el destete de la ventilación. Datos analizados por: Prueba Exacta de Fisher o prueba de Chi-cuadrado; prueba t de Student de dos colas para datos no apareados; y prueba de Mann-Whitney. Se admitieron valores de P significativos menores o iguales a 0,05. Resultados: de los pacientes, 415 (86,5%) tuvieron éxito y 65 (13,5%) fracasaron. Grupo de éxito: balance hídrico más negativo, APACHE II en 20 (14-25), tos débil en 58 (13,9%). Grupo de fracaso: balance de líquidos más positivo, APACHE II en 23 (19-29), tos débil en 31 (47,7%), abundante cantidad de secreciones pulmonares en 47,7%. Conclusión: el balance hídrico positivo y la presencia de tos ineficaz o incapacidad para higienizar la vía aérea fueron predictores de fracaso de la extubación.

Resultados maternos y fetales en pacientes con preeclampsia severa e hipotiroidismo primario. Estudio de casos y controles / Maternal and perinatal outcomes in patients with severe preeclampsia and primary hypothyroidism. Case and control study

Introducción: El hipotiroidismo primario tiene efectos adversos maternos y fetales que en el escenario de la preeclampsia severa (PS) su impacto sobre el binomio puede ser mayor. Objetivo: Comparar los resultados maternos y fetales en pacientes con PS e hipotiroidismo primario. Material y métodos: Se trató de un estudio de casos y controles en 58 pacientes embarazadas con PS admitidas en la Unidad de Cuidados Intensivos de una Unidad de Alta Especialidad de la Ciudad de México atendidas de enero del año 2018 a diciembre del 2021. El grupo de casos se formó con 29 pacientes con hipotiroidismo primario pregestacional y el grupo de controles con 29 enfermas pareadas por la edad con función tiroidea pregestacional normal. Se compararon sus datos generales y los resultados maternos y fetales. Se utilizó estadística descriptiva, prueba chi cuadrada y la prueba «t» de Student con el programa SPSS versión 20. Fue significativo el valor p<0,05. Resultados: No se encontraron diferencias en la edad (p=0,8292), paridad (p=1), presión arterial sistólica (p=0,7229) y diastólica (p=0,5498), operación cesárea (p=0,812), hemorragia intraparto (p=0,3558), técnica anestésica (p=0,5786), complicaciones obstétricas, estancia en la Unidad de Cuidados Intensivos (p=0,6181) y mortalidad. No hubo diferencias en los productos: embarazo único (p=0,912), edad gestacional (p=0,8901), peso (p=0,3338), calificación de Apgar minuto uno y cinco, prematuridad (p=0,8701), cuidados intensivos (p=0.0623), mortalidad in útero (n=4 vs n=4) y mortalidad al nacimiento (n=2 vs n=0). Conclusiones: Los resultados maternos y fetales fueron similares. Los casos con descontrol tiroideo no mostraron efectos clínicos adversos.(AU)

Introduction: Primary hypothyroidism has adverse effects on maternal and fetal outcomes. In the scenario of severe preeclampsia (SP), the impact on the binomial may be greater. Objective: To compare maternal and fetal outcomes in patients with SP and primary hypothyroidism. Material and methods: This was a case-control study in 58 pregnant patients with SP admitted to the Intensive Care Unit of a High Specialty Unit in Mexico City attended from January 2018 to December 2021. The case group was formed with 29 patients with pre-pregnancy primary hypothyroidism and the control group with 29 age-matched patients with normal pre-pregnancy thyroid function. Their overall data and maternal and fetal outcomes were compared. Descriptive statistics, chi-square test, and Student's t-test with the SPSS version 20 programme were used. A p-value<0.05 was significant. Results: No differences were found in age (p=.8292), parity (p=1), systolic (p=.7229) and diastolic (p=.5498) blood pressure, caesarean section (p=.812), intrapartum haemorrhage (p=.812), p=.3558), anaesthetic technique (p=.5786), obstetric complications, Intensive Care Unit stay (p=.6181), and mortality. There were no differences in the products: singleton pregnancy (p=.912), gestational age (p=.8901), weight (p=.3338), Apgar score minute one and five, prematurity (p=.8701), intensive care (p=.0623), in utero mortality (n=4 vs n=4), and mortality at birth (n=2 vs n=0). Conclusions: Maternal and fetal outcomes were similar. The cases with uncontrolled thyroid did not show adverse clinical effects.(AU)

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)

Functional outcomes and quality of life after surgically treated tibial plateau fractures.

BACKGROUND: Tibial plateau fractures (TPF) are uncommon and challenging for orthopedic surgeons with controversial reported outcomes. In this study, we aimed to evaluate the functional outcomes and quality of life (QOL) of patients with surgically treated TPF. METHODS: A total of 80 consecutive patients and 82 controls participated in this case control study. The patients were all surgically treated in our tertiary center from April 2012 to April 2020. The functional outcome was evaluated using the Western Ontario and McMaster Universities Arthritis Index (WOMAC) scale. Moreover, we used the Short Form 36 health survey (SF-36) health survey to evaluate the QOL. RESULTS: No significant difference was observed in the overall mean SF-36 score in the two groups. We found a significant positive correlation between the scores of the SF-36 and WOMAC questionnaires (r = 0.642, p < 0.001) and between the ROM and the WOMAC questionnaire score (r = 0.478, p < 0.001). Further, ROM and SF-36 showed a weak positive correlation (r = 0.248, p = 0.026). Age had a weak negative correlation with the pain subscale of SF-36 (r = - 0.255, p = 0.22), even though it was not correlated with the total score or other subscales (p > 0.05). CONCLUSION: QoL after TPF is not significantly different from that of a matched control group. Also, neither age nor BMI correlates with the QoL and functional outcome.

Diagnostic value of anti-Müllerian hormone combined with androgen-levels in Chinese patients with polycystic ovary syndrome.

OBJECTIVE: To establish a cutoff level of AMH which could help for the diagnosis of PCOS, to investigate the predictive value of AMH combined with androgens in Chinese women to diagnose PCOS. MATERIALS AND METHODS: This is a prospective case control study, 550 women recruited (aged 20-40 years), in which 450 PCOS women recruited according to the Rotterdam criteria and 100 non-PCOS women in the control group were from the women for the pregnancy preparation examination. AMH were measured by the Elecsys AMH Plus immunoassay. Androgens and other sex hormone were measured. The validity of AMH toward the diagnosis of PCOS, or AMH combined with total testosterone, free testosterone, bioavailable testosterone and androstenedione was estimated by receiver operating characteristic (ROC)curves, and correlations between paired variables was estimated by Spearman's rank correlation coefficient. RESULTS: The cutoff value of AMH in Chinese reproductive-age women with PCOS is 4.64 ng/mL, AUC under the curve is 0.938, with 81.6% sensitivity, and 92.0% specificity. Total testosterone, free testosterone, bioactive testosterone, and androstenedione are significantly higher in women with PCOS of reproductive age than in controls. The combination of AMH and free testosterone resulted in a higher AUC of 94.8%, with higher sensitivity (86.1%) and excellent specificity (90.3%) for the prediction of PCOS. CONCLUSION: The Elecsys AMH Plus immunoassay, with a cutoff of 4.64 ng/mL, is a robust method for identifying PCOM to aid in PCOS diagnosis. The combination of AMH and free testosterone resulted in a higher AUC of 94.8% for the diagnose of PCOS.

Bankart repair with subscapularis augmentation: A case control study.

To examine the effect on functional shoulder scores of Bankart repair with arthroscopic subscapularis tendon augmentation applied to cases of anterior shoulder instability with < 25% glenoid defect and ligament-labral failure. A total of 83 patients underwent Bankart repair with subscapularis tendon augmentation between 2015 and 2021. The range of movement of the patients was measured by 2 doctors using a goniometer. The Constant Murley score, American Shoulder and Elbow Surgeons score, Rowe score, and the University of California at Los Angeles scores were recorded preoperatively and postoperatively. Statistically significant increases were determined in the postoperative functional scores compared to the preoperative values as mean 41.4 ±â€…2.08 unit increase in the Constant Murley score, mean 41.4 ±â€…1.8 unit increase in the American Shoulder and Elbow Surgeons score, mean 13.8 ±â€…1.45 unit increase in the University of California at Los Angeles and mean 49.3 ±â€…7.45 unit increase in the Rowe score (P = .001; P < .01). Compared with the preoperative evaluation, there was found to be a postoperative statistically significant unit decrease of 10.2 ±â€…1.47 in the external rotation measurement (P = .001; P < .01). The number of dislocations was determined to have a negative correlation with the internal rotation measurements (r = -0.305; P = .005; P < .01), and a weak negative statistically significant relationship with external rotation measurements (r = -0.329; P = .002; P < .01). Unlike other techniques, as this repair technique includes both the tendon and the capsule as a single piece, it was seen to be a sufficient and reliable technique that is easy-to apply.

PADI4 and IL-33 gene polymorphisms with susceptibility to systemic lupus erythematosus and juvenile idiopathic arthritis, a systematic review and meta-analysis.

BACKGROUND: This study evaluated the association between peptidyl arginine deiminase type IV (PADI4) and interleukin 33 (IL-33) with systemic lupus erythematosus (SLE) and juvenile idiopathic arthritis (JIA). METHOD: We searched the PubMed, Web of Science, Embase and Cochrane Library databases to retrieve articles published up to January 20, 2023. Stata/SE 17.0 (College Station, TX) software was used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs). The cohort study, case-control study focusing on the PADI4, IL-33 polymorphism, and SLE, JIA were retrieved. The data included basic information of each study and the genotypes and allele frequencies. RESULTS: Studies in PADI4 rs2240340 = 2 and 3 IL-33(rs1891385 = 3, rs10975498 = 2, rs1929992 = 4) were found in 6 articles. Overall, only the IL-33 rs1891385 show significant association between SLE in all 5 models. The results were OR (95% CI) = 1.528 (1.312, 1.778), P = .000 in Allele model (C vs A), OR (95% CI) =1.473 (1.092, 1.988), P = .000 in Dominant model (CC + CA vs AA), 2.302 (1.583, 3.349), P = .000 in Recessive model (CC vs CA + AA), 2.711 (1.845, 3.983), P = .000 in Homozygote model (CC vs AA), 5.568 (3.943, 7.863), P = .000 in Heterozygote model (CA vs AA). PADI4 rs2240340, IL-33 rs10975498, IL-33 rs1929992 were not found to be association with the risk of SLE and JIA. In gene model, statistically significant association was found between IL-33 rs1891385 and SLE in sensitivity analysis. Egger's publication bias plot showed there was no publication bias (P = .165). Only in recessive model the heterogeneity test was significant (I2 = 57.9%, P ≤ .093) of IL-33 rs1891385. CONCLUSION: The current study suggests that in all 5 model, IL-33 rs1891385 polymorphism may be associated with genetic susceptibility to SLE. There was unclear association found between PADI4 rs2240340, IL-33 rs10975498, and IL-33 rs1929992 polymorphisms and SLE and JIA. Due to the limitations of included studies and the risk of heterogeneity, additional research is required to confirm our findings. PROSPERO REGISTRATION NUMBER: CRD42023391268.

Pro-inflammatory cytokines in patients with low back pain: A comparative study.

INTRODUCTION AND OBJECTIVES: There are controversial results regarding the value of serum IL-8 and TNFα in patients with non-specific low back pain. This study aimed to compare pro-inflammatory cytokines between patients with non-specific back pain and pain-free controls. MATERIALS AND METHODS: We conducted a case-control study including 106 participants: 46 patients with chronic non-specific low back pain (G1) and 60 pain-free controls (G0). The interleukin (IL-)6, IL-8, IL-17, IL-23, IL-22, and Tumor necrosis factor α (TNFα) were measured. We collected demographic and clinical data, including age, gender, low back pain duration and radicular pain. The pain degree was assessed using the Visual Analogic Scale. RESULTS: The mean age was 43.17±8.7 years in G1. Radicular pain was found in 37 cases with a Visual Analogic Scale of 3.03±2.5mm. The magnetic resonance imaging was performed in (G1), showing disk herniation and degenerative disk disease in 54.3% (n=25) and 45.7% of cases (n=21), respectively. The IL-8 was higher in G1 (18.84±44.64 versus 4.34±1.23pg/mL, p:0.033). IL-8 levels correlated with TNFα (0.942, p<10-3), IL-6 (0.490, p=0.011) and Visual Analogic ScaleRadicular-pain (r:0.297, p:0.047). IL-17 was higher in patients with restricted lumbar spine mobility (9.64±20.77 versus 1.19±2.54pg/mL, p:0.014). CONCLUSIONS: Our results provide evidence that IL-8 and TNFα play a role in low back pain and radicular pain due to disk degeneration or herniation. These findings could potentially be used by future studies to develop new non-specific low back pain therapeutic strategies.

The role of nailfold capillaroscopy in pediatric patients with Kawasaki disease.

BACKGROUND: Nailfold capillaroscopy has been used as a non-invasive diagnostic method for microvasculature evaluation in various rheumatological disorders. The present study aimed to determine the utility of nailfold capillaroscopy in the diagnosis of Kawasaki Disease (KD). METHOD: In this case-control study nailfold capillaroscopy was performed in 31 patients with KD and 30 healthy controls. All nailfold images were evaluated for capillary distribution and capillary morphology such as enlargement, tortuosity, and dilatation of the capillaries. RESULT: Abnormal capillaroscopic diameter was identified in 21 patients from the KD group and 4 patients in the control group. The most common abnormality in capillary diameter was irregular dilatation in 11 (35.4%) KD patients and in 4 people (13.3%) in the control group. Distortions of the normal capillary architecture was commonly seen in the KD group (n=8). A positive correlation was observed between coronary involvement and abnormal capillaroscopic results (r=.65, P<.03). The sensitivity and specificity of capillaroscopy for the diagnosis of KD were 84.0% (95%CI: 63.9-95.5%) and 72.2% (95%CI: 54.8-85.8%), respectively. The PPV and NPV of capillaroscopy for KD were 67.7% (95%CI: 48.6-83.3) and 86.7% (95% CI: 69.3-96.2), respectively. CONCLUSION: Capillary alterations are more common in KD patients compared to control group. Thus, nailfold capillaroscopy can be useful in detecting these alterations. Capillaroscopy is a sensitive test for detecting capillary alternations in KD patients. It could be used as a feasible diagnostic modality for evaluating microvascular damage in KD.

Association between sexual behaviour and head and neck cancer in the French West Indies: a case-control study based on an Afro-Caribbean population.

BACKGROUND: Worldwide, a significant proportion of head and neck cancers is attributed to the Human papillomavirus (HPV). It is imperative that we acquire a solid understanding of the natural history of this virus in head and neck squamous cell carcinoma (HNSCC) development. Our objective was to investigate the role of sexual behaviour in the occurrence of HNSCC in the French West Indies. Additionally, we evaluated the association of high risk of HPV (Hr-HPV) with sexual behaviour in risk of cancer. METHODS: We conducted a population-based case-control study (145 cases and 405 controls). We used logistic regression models to estimate adjusted odds-ratios (OR), and their 95% confidence intervals (CI). RESULTS: Compared to persons who never practiced oral sex, those who practiced at least occasionally had a lower HNSCC risk. First sexual intercourse after the age of 18 year was associated with a 50% reduction of HNSCC risk, compared to those who began before 15 years. HNSCC risk was significantly reduced by 60% among persons who used condoms at least occasionally. The associations for ever condom use and oral sex were accentuated following the adjustment for high-risk HPV (Hr-HPV). Oral Hr-HPV was associated with several sexual behaviour variables among HNSCC cases. However, none of these variables were significantly associated with oral HPV infections in the population controls. CONCLUSION: First intercourse after 18 years, short time interval since last intercourse and ever condom use were inversely associated with HNSCC independently of oral Hr-HPV infection. Sources of transmission other than sexual contact and the interaction between HPV and HIV could also play a role in HNSCC etiology.

Serum Vitamin D status and VDR (FokI) polymorphism association study in Pakistani females with breast cancer.

Background: Breast cancer is most common in Pakistani women at young age compared to West where it is most common after 60 years of age. Variations in genes controlling vitamin D activity would play a role in determining the risk of breast cancer in women at early age. Purpose: To determine the association of vitamin D receptors (VDR) gene polymorphisms (FokI) with breast cancer risk in Pakistani women. Methods: FokI polymorphisms were studied through the polymerase chain reaction-restriction fragment length polymorphism technique on blood samples of 300 breast cancer and 300 healthy women. Results: This study found that circulating level of 25(OH)D3 was significantly lower among breast cancer patients as well as healthy subjects. Patients with large tumor size had significantly lower vitamin D levels. VDR FokI genotypes were significantly distributed (P ≤ 0.00001) in Pakistani women with newly diagnosed breast cancer. A significant association between different FokI genotypes and circulating levels of 25(OH)D3 was found. Patients with FF genotype was significantly (P < 0.0001) associated with higher risk of breast cancer (OR 8.9, 95% CI 0.17-0.45) compared to Ff and ff genotype. Conclusion: VDR gene FokI polymorphism was associated with plasma vitamin D level and significant differences found in mean serum vitamin D levels between genotype groups of FokI. The study concluded that FokI might be one of the contributors to increase relative risk of breast cancer in Pakistani women.

Evaluation of Autonomic Nervous System Dysfunction in Childhood Obesity and Prader-Willi Syndrome.

The autonomic nervous system (ANS) may play a role in the distribution of body fat and the development of obesity and its complications. Features of individuals with Prader-Willi syndrome (PWS) impacted by PWS molecular genetic classes suggest alterations in ANS function; however, these have been rarely studied and presented with conflicting results. The aim of this study was to investigate if the ANS function is altered in PWS. In this case-control study, we assessed ANS function in 20 subjects with PWS (6 males/14 females; median age 10.5 years) and 27 body mass index (BMI) z-score-matched controls (19 males/8 females; median age 12.8 years). Standardized non-invasive measures of cardiac baroreflex function, heart rate, blood pressure, heart rate variability, quantitative sudomotor axon reflex tests, and a symptom questionnaire were completed. The increase in heart rate in response to head-up tilt testing was blunted (p < 0.01) in PWS compared to controls. Besides a lower heart rate ratio with Valsalva in PWS (p < 0.01), no significant differences were observed in other measures of cardiac function or sweat production. Findings suggest possible altered sympathetic function in PWS.

Association between PAI-1 Polymorphisms and Ischemic Stroke in a South Korean Case-Control Cohort.

Stroke is the second leading cause of death in the world. Approximately 80% of strokes are ischemic in origin. Many risk factors have been linked to stroke, including an increased level of plasminogen activator inhibitor-1 (PAI-1). PAI-1 levels increase and remain elevated in blood during the acute phase of ischemic stroke, which can impair fibrinolytic activity, leading to coronary artery disease and arterial thrombotic disorders. Here, we present a case-control study of 574 stroke patients and 425 controls seen for routine health examination or treatment for nonspecific dizziness, nonorganic headache, or anxiety for positive family history of stroke at the Bundang Medical Center in South Korea. Polymorphisms in PAI-1 were identified by polymerase chain reaction/restriction fragment length polymorphism analysis using genomic DNA. Specifically, three variations (-675 4G>5G, 10692T>C, and 12068G>A) were linked to a higher overall prevalence of stroke as well as a higher prevalence of certain stroke subtypes. Haplotype analyses also revealed combinations of these variations (-844G>A, -675 4G>5G, 43G>A, 9785A>G, 10692T>C, 11053T>G, and 12068G>A) that were significantly associated with a higher prevalence of ischemic stroke. To the best of our knowledge, this is the first strong evidence that polymorphic sites in PAI-1 promoter and 3'-UTR regions are associated with higher ischemic stroke risk. Furthermore, the PAI-1 genotypes and haplotypes identified here have potential as clinical biomarkers of ischemic stroke and could improve the prognosis and future management of stroke patients.

Chronic Kidney Disease: Interaction of Adiponectin Gene Polymorphisms and Diabetes.

Adiponectin is an adipokine multipeptide hormone with insulin-sensitizing; anti-atherosclerotic; and anti-inflammatory properties. Chronic kidney disease (CKD) may be associated with low adiponectin. The adiponectin gene ADIPOQ is thought to be the only major gene responsible for plasma adiponectin levels; which are associated with diabetes and diabetic nephropathy. The purpose of this study was to investigate the association between ADIPOQ polymorphism and CKD. In addition; the combined effects of ADIPOQ polymorphism and diabetes and levels of total urinary arsenic and blood cadmium on CKD were also explored. This study included 215 CKD patients and 423 age-sex matched controls. The ADIPOQ polymorphisms were determined using the Agena Bioscience Mass ARRAY System. The levels of blood cadmium and urinary arsenic species were measured. The ADIPOQ rs182052 GA/AA genotype had a marginally lower odds ratio (OR) for CKD than the GG genotype. The OR (95% confidence interval; CI) was 16.33 (5.72-46.66) of CKD in subjects carrying the ADIPOQ rs182052 GG genotype and diabetes compared to non-diabetes subjects carrying the ADIPOQ rs182052 GA/AA genotype; the interaction term had p = 0.015; and the synergy index was 6.64 (1.81-24.36) after multivariate adjustment. A significant interaction of diabetes and ADIPOQ rs1501299 risk genotype increased the OR of CKD after multivariate adjustment with a synergy index of 0.31 (0.11-0.86) and a multiplicative interaction with p = 0.001. These results suggest that ADIPOQ rs182052 and rs1501299 risk genotypes may significantly modify the association between diabetes and CKD but not the association between total urinary arsenic and blood cadmium and CKD.

Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank.

Glaucoma is a progressive optic neuropathy and a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma is the most common form, and yet the etiology of this multifactorial disease is poorly understood. We aimed to identify plasma metabolites associated with the risk of developing POAG in a case-control study (599 cases and 599 matched controls) nested within the Nurses' Health Studies, and Health Professionals' Follow-Up Study. Plasma metabolites were measured with LC-MS/MS at the Broad Institute (Cambridge, MA, USA); 369 metabolites from 18 metabolite classes passed quality control analyses. For comparison, in a cross-sectional study in the UK Biobank, 168 metabolites were measured in plasma samples from 2,238 prevalent glaucoma cases and 44,723 controls using NMR spectroscopy (Nightingale, Finland; version 2020). Here we show higher levels of diglycerides and triglycerides are adversely associated with glaucoma in all four cohorts, suggesting that they play an important role in glaucoma pathogenesis.

Copper and zinc deficiency to the risk of preterm labor in pregnant women: a case-control study.

OBJECTIVE: The present study explored the relationship between maternal copper and zinc levels and preterm labor. DESIGN: The design of the present study was a case-control. Two groups were matched in terms of early-pregnancy body mass index (BMI), pregnancy and childbirth rating, education level, income, and employment status. Blood samples were taken from mothers after meeting the inclusion criteria when admitted to the maternity ward to check copper and zinc serum levels. Demographic and midwifery data were also collected using a questionnaire and patient records. The data were analyzed in SPSS26 using independent-samples T-test, chi-square, Fisher exact test, and regression analysis, and the p < 0.05 was considered statistically significant. SETTING: Bohloul Hospital in Gonabad, Iran. PARTICIPANTS: The subjects were 86 pregnant women visiting the hospital in two cases (preterm delivery) and control (term delivery) groups. RESULTS: The mean serum level of zinc in the case group (preterm delivery) (44.97 ± 13.06 µg/dl) was significantly lower than the control group (term) (52.63 ± 21.51 µg/dl), and the mean serum level of copper in the case group (149.82 ± 53.13 µg/dl) was significantly lower than the control group (183.97 ± 71.40 µg/dl). CONCLUSION: As the findings showed, copper and zinc serum levels in mothers with preterm delivery were significantly lower than mothers with term delivery, which shows the biological role of these elements in the pathogenesis of preterm delivery.

Nonanatomic healing of the greater tuberosity after plating in proximal humeral fractures: a case control study.

BACKGROUND: Open reduction and plate internal fixation (ORIF) is one of the most common treatment methods for proximal humeral fractures. Complications associated with the greater tuberosity (GT) are rarely reported, therefore, the purpose of this study was to analyze the complications associated with the GT and the risk factors after locked-plate internal fixation. METHODS: We retrospectively analyzed the medical and radiographic data of patients with proximal humeral fractures involving the GT treated with locking plates between January 2016 and July 2019. We divided all patients into two groups, the anatomic GT healing group and the nonanatomic GT healing group, depending on the radiographic outcomes of the GT. Clinical outcome was assessed by the Constant scoring system. Potential risk factors included preoperative and intraoperative factors. Preoperative factors included sex, age, body mass index, fracture type, fracture-dislocation, proximal humeral bone mineral density, humeral head extension, hinge integrity, comminuted GT, volume and surface area of the main GT fragment, and displacement of the main GT fragment. Intraoperative factors were adequate medial support, residual head-shaft displacement, head-shaft angle and residual GT displacement. Univariate logistic regression and multivariate logistic regression were used to identify risk factors. RESULTS: There were 207 patients (130 women and 77 men; mean age, 55 years). GT anatomic healing was observed in 139 (67.1%) patients and nonanatomic healing in 68 (32.9%). Patients with GT nonanatomic healing had significantly inferior Constant scores than those with GT anatomic healing (75.0 ± 13.9 vs. 83.9 ± 11.8, P < 0.001). Patients with high GT malposition had worse Constant scores than patients with low GT malposition (73.3 ± 12.7 vs. 81.1 ± 11.4, P = 0.039). The multivariate logistic model showed that GT fracture characteristics were not risk factors for nonanatomic GT healing, while residual GT displacement was. CONCLUSIONS: Nonanatomic healing of the GT is a high-rate complication of proximal humeral fractures, resulting in inferior clinical outcomes, especially for high GT malposition. Fracture characteristics of the GT are not risk factors for GT nonanatomic healing and GT comminution should not be regarded as a contraindication to ORIF for proximal humeral fractures.

Association between air pollutants and initiation of biological therapy in patients with ankylosing spondylitis: a nationwide, population-based, nested case-control study.

BACKGROUND: Outdoor air pollution has been found to trigger systemic inflammatory responses and aggravate the activity of certain rheumatic diseases. However, few studies have explored the influence of air pollution on the activity of ankylosing spondylitis (AS). As patients with active AS in Taiwan can be reimbursed through the National Health Insurance programme for biological therapy, we investigated the association between air pollutants and the initiation of reimbursed biologics for active AS. METHODS: Since 2011, hourly concentrations of ambient air pollutants, including PM2.5, PM10, NO2, CO, SO2, and O3, have been estimated in Taiwan. Using Taiwanese National Health Insurance Research Database, we identified patients with newly diagnosed AS from 2003 to 2013. We selected 584 patients initiating biologics from 2012 to 2013 and 2336 gender-, age at biologic initiation-, year of AS diagnosis- and disease duration-matched controls. We examined the associations of biologics initiation with air pollutants exposure within 1 year prior to biologic use whilst adjusting for potential confounders, including disease duration, urbanisation level, monthly income, Charlson comorbidity index (CCI), uveitis, psoriasis and the use of medications for AS. Results are shown as adjusted odds ratio (aOR) with 95% confidence intervals (CIs). RESULTS: The initiation of biologics was associated with exposure to CO (per 1 ppm) (aOR, 8.57; 95% CI, 2.02-36.32) and NO2 (per 10 ppb) (aOR, 0.23; 95% CI, 0.11-0.50). Other independent predictors included disease duration (incremental year, aOR, 8.95), CCI (aOR, 1.31), psoriasis (aOR, 25.19), use of non-steroidal anti-inflammatory drugs (aOR, 23.66), methotrexate use (aOR, 4.50; 95% CI, 2.93-7.00), sulfasalazine use (aOR, 12.16; 95% CI, 8.98-15.45) and prednisolone equivalent dosages (mg/day, aOR, 1.12). CONCLUSIONS: This nationwide, population-based study revealed the initiation of reimbursed biologics was positively associated with CO levels, but negatively associated with NO2 levels. Major limitations included lack of information on individual smoking status and multicollinearity amongst air pollutants.

The obesity associated FTO gene polymorphism and the risk of preeclampsia in Iranian women: A case-control study.

BACKGROUND: Preeclampsia (PE) is one of the leading disorders in pregnant women with maternal and fetal complications. Obesity is considered an important risk factor for the development of PE. Genetic variations in fat mass and obesity associated (FTO) gene may play a role in the development of PE. This study aimed to investigate the possible association between FTO gene rs9939609 and PE risk in a sample of Iranian pregnant women. MATERIAL AND METHODS: In this case-control study, 312 pregnant women were included, including 128 with PE and 184 without PE. Demographic data and blood samples were obtained from all individuals. The genotyping of rs9939609 polymorphisms was performed by the tetra-primer amplification refractory mutation system-polymerase chain reaction (TP-ARMS-PCR) method, and the results of TP-ARMS-PCR were confirmed using DNA sequencing. RESULTS: The genotype frequency was 50%, 47.7%, and 2.3% in pregnant patients and 37%, 47.8%, and 15.2% in healthy controls for TT, AT, and AA, respectively. The risk of PE was significantly reduced in the pregnant women having the AA genotype. CONCLUSION: Based on the results of the present study, rs9939609 polymorphism in the FTO gene may play a protective role against PE. However, further studies are warranted. [Figure: see text].