Category: Nevin Manimala

Genet Med. 2023 Mar 31:100836. doi: 10.1016/j.gim.2023.100836. Online ahead of print.

ABSTRACT

PURPOSE: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the two known disease genes associated with RTS in over 70% of cases. We describe RTS-like features in five individuals with biallelic variants in CRIPT (OMIM#615789).

METHODS: Two newly identified and four published individuals with CRIPT variants were systematically compared to RTS using clinical data, computational analysis of photographs, histologic analysis of skin, and cellular studies on fibroblasts.

RESULTS: All CRIPT individuals fulfilled the diagnostic criteria for RTS, and additionally had neurodevelopmental delay and seizures. Using computational gestalt analysis, CRIPT individuals showed greatest facial similarity with RTS individuals. Skin biopsies revealed a high expression of senescence markers (p53/p16/p21) and the senescence-associated ß-galactosidase activity was elevated in CRIPT-deficient fibroblasts. RECQL4- and CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors, and no or only mild sensitivity to genotoxic stress by ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate.

CONCLUSION: CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. At the cellular level, RECQL4- and CRIPT-deficient cells display increased senescence, suggesting shared molecular mechanisms leading to the clinical phenotypes.

PMID:37013901 | DOI:10.1016/j.gim.2023.100836

Rocz Panstw Zakl Hig. 2023;74(1):93-102. doi: 10.32394/rpzh.2023.0246.

ABSTRACT

BACKGROUND: Considered a modern phobia, Nomophobia (NO MObile PHOne PhoBIA) is a term describing irrational fear or anxiety of being unable to access one’s own mobile phone.

OBJECTIVES: To develop and validate the nomophobia questionnaire, administering it to a sample of adolescents representing undergraduate dental students. To assess the prevalence of Nomophobia, determine the usage pattern of mobile phones and evaluate the impact due to lack of access to mobile phones among undergraduate dental students.

MATERIAL AND METHOD: A cross-sectional study was conducted on 302 undergraduate students of Bhubaneswar through a self-administered questionnaire via Google Forms consisting of 19 items evaluating the pattern and anxiety related to usage of mobile phones. Responses were recorded on a 5-point Likert scale. Kruskal Wallis, Mann-Whitney U and Chisquare tests were used for statistical analysis.

RESULTS: Test-Retest reliability showed kappa of k=0.86 and Internal consistency Chronbach’s-Alpha to be α=0.82. Prevalence of nomophobia (score ≥ 58) was 32.1%, and students at risk of being nomophobic (score 39-57) was 61.9%. It was highest in males (32.6%) and amongst the interns (41.9%) and lowest (25.5%) amongst the second-year students. Participants felt nervous/insecure if their phones were away from them because of the fear that somebody might have accessed their data (3.07±1.93) and or tried to contact them (3.09±1.13) which were not statistically significant (p>0.05).

CONCLUSIONS: The present study confirms that nomophobia is an emerging behavioural addiction among dental students. Adequate prevention strategies would be helpful in reducing the impact of the chronic mobile usage. Effect of the mobile phone on dental students and the fear of not having it with them is increasing elaborately, that needs to be controlled. Otherwise, it would negatively affect their academic achievement and well-being.

PMID:37013899 | DOI:10.32394/rpzh.2023.0246

Rocz Panstw Zakl Hig. 2023;74(1):83-91. doi: 10.32394/rpzh.2023.0241.

ABSTRACT

BACKGROUND: Internet can act as an excellent resource for gaining valuable health related information. However, excessive online research and investigation about health-related issues may impose a negative impact. The term cyberchondria is used to describe a clinical condition in which frequent internet searches for health-related information leads to exaggerated anxieties about physical well-being.

OBJECTIVES: To determine the prevalence of cyberchondria and associated factors among the information technology professionals of Bhubaneswar in India.

MATERIALS AND METHODS: A cross-sectional study was carried out among 243 software professionals in Bhubaneswar using a previously validated Cyberchondria Severity Scale (CSS-15) questionnaire. Descriptive statistics in terms of number, percentage, mean and standard deviation were presented. Independent t-test and one-way analysis of variance was applied to compare the cyberchondria score between two and more than two independent variables respectively.

RESULTS: From 243 individuals 130 (53.5%) were males and 113 (46.5%) were females with mean age 29.82±6.67 years. The prevalence of cyberchondria severity was found to be 46.5%. The mean cyberchondria score of all study subjects was 43.80±10.62. It was significantly higher among those who spend more than 1 hour in the internet during night, feel fear and anxiety in visiting the doctor or dentist, interested in gaining the health-related information from other resources and agreed that gaining health related information has increased after COVID-19 pandemic (p˂0.05).

CONCLUSION: Cyberchondria is a growing issue with regard to mental health in developing countries and has the ability to cause anxiety and distress. Appropriate actions must be taken to prevent it on a societal level.

PMID:37013889 | DOI:10.32394/rpzh.2023.0241

Future Oncol. 2023 Apr 4. doi: 10.2217/fon-2023-0038. Online ahead of print.

NO ABSTRACT

PMID:37013832 | DOI:10.2217/fon-2023-0038

Expert Rev Anti Infect Ther. 2023 Apr 4. doi: 10.1080/14787210.2023.2199153. Online ahead of print.

ABSTRACT

OBJECTIVES: The purpose of NCDP policy was to reduce the price of drugs. However, it is unclear that a reduction in the price of a single antibiotic will lead to an increase in other alternatives, which is crucial for antibiotic management. The aim of this study was to evaluate the impact of policy on the consumption of policy-related antibiotic.

METHODS: Quasi-experimental interrupted time series methods were used to assess the effects of the policy.

RESULTS: After the implementation of the policy, the consumption of the winning products increased rapidly, with a significant difference in growth (β₂=88.03). For nonwinning products, the level of purchase volume decreased (β₂=-22.83) in the intervention group, and after adding the comparison group, this number fell further in statistical significance (β₂=-114.53). Among all the nonwinning products, the level of purchase volume (β₂=-73.59) and expenditures (β₂=-346.71) of the generic drugs that passed the conformance evaluation decreased significantly after the policy in the difference model. The purchase volume of J01DC, J01DD and total antibiotics significantly increased in control group compared with the intervention.

CONCLUSION: The implementation of the volume-based procurement policy promoted the use of winning products and decreased the usage of its alternative watch antibiotics.

PMID:37013799 | DOI:10.1080/14787210.2023.2199153

J Histotechnol. 2023 Apr 4:1-12. doi: 10.1080/01478885.2023.2193526. Online ahead of print.

ABSTRACT

The molecular pathogenesis of osteosarcoma (OS), the most frequent primary malignant bone tumor of all age groups, is still obscure. Since multidrug chemotherapeutic regimens were introduced in the 1970s, survival rates have been stationary. The Wnt-β-catenin signaling cascade and SOX9 have a significant contribution to skeletal growth, development, and tumorigenesis. In the present work, an attempt was made to examine the role and clinicopathological significance of β-catenin and SOX9 in 46 cases of pre-neoadjuvant chemotherapy OS tissues compared to 10 cases of non-neoplastic bone. The mRNA levels of both markers were assessed by qRT-PCR, and protein levels of β-catenin were analyzed by immunohistochemistry. The results were correlated with different clinicopathological parameters. SOX9 mRNA levels were significantly elevated in OS compared to non-neoplastic bone, and higher levels were significantly associated with the occurrence of fluid-fluid levels (indicating blood-containing cystic spaces) and osteolytic radiological pattern. Although β-catenin mRNA and protein levels were higher in OS compared to non-neoplastic bone, only the protein levels reached statistical significance. Higher β-catenin mRNA levels were significantly associated with tumor size, while higher protein levels were significantly associated with the histologic subtype, mitotic count, and radiological pattern. No significant association was noted with any of the other evaluated parameters. OS showing higher SOX9 mRNA expression and lower β-catenin mRNA and protein expression exhibited longer estimated overall survival times approaching statistical significance. To conclude, while high expression of β-catenin and SOX9 suggests their possible involvement in OS development, their prognostic role may need further research.

PMID:37013797 | DOI:10.1080/01478885.2023.2193526

Arch Suicide Res. 2023 Apr 4:1-13. doi: 10.1080/13811118.2023.2192755. Online ahead of print.

ABSTRACT

The study aims to examine (1) the association between bullying victimization and suicidal thoughts and (2) neighborhood conditions as a moderated mediated model of the association between bullying victimization, emotional distress, and suicidal thoughts. The sample consists of 414 African American youths (ages 12-17) in Chicago’s Southside neighborhoods. Variables included suicidal thoughts, bullying victimization, emotional distress, neighborhood conditions, age, sex, and government assistance. Analyses included descriptive statistics, bivariate correlations, and multivariate regression analyses. The study found that bullying victimization was not directly associated with suicidal thoughts. However, bullying victimization was positively associated with emotional distress, which was related to suicidal thoughts. Moreover, emotional distress as a mediator of the association between bullying victimization and suicidal thoughts was observed when neighborhood conditions were a moderator. The findings suggest that bullying victimization and suicidal thoughts are major concerns for African American adolescents, and prevention and intervention need to be cost-effective.

PMID:37013796 | DOI:10.1080/13811118.2023.2192755

Eur Rev Med Pharmacol Sci. 2023 Mar;27(6):2692-2698. doi: 10.26355/eurrev_202303_31807.

ABSTRACT

OBJECTIVE: COVID-19 is a disease that affects and damages the neurological system. The aim of this study was to evaluate the fetal neurodevelopmental status through maternal serum and umbilical cord BDNF levels.

PATIENTS AND METHODS: In this prospective study, 88 pregnant women were evaluated. Demographic and peripartum characteristics of the patients were recorded. Samples were collected from pregnant women for maternal serum and the umbilical cord BDNF levels during delivery.

RESULTS: In this study, 40 pregnant women hospitalized with COVID-19 formed the infected group and 48 pregnant women without COVID-19 formed the healthy control group. Demographic and postpartum characteristics were similar in both groups. Maternal serum BDNF values were significantly lower in the COVID-19 infected group (1597.0 ± 337.3 pg/ml) than in the healthy group (1783.2 ± 394.1 pg/ml) (p=0.019). Fetal BDNF levels were 1794.9 ± 440.3 pg/ml in the healthy group and 1691.0 ± 368.6 pg/ml in COVID-19 infected pregnant women group and statistically similar between groups (p=0.232).

CONCLUSIONS: Results showed that while maternal serum BDNF levels decreased in the presence of COVID-19, there was no difference in umbilical cord BDNF levels. This may be an indication that the fetus is not affected and is protected.

PMID:37013788 | DOI:10.26355/eurrev_202303_31807

Eur Rev Med Pharmacol Sci. 2023 Mar;27(6):2543-2551. doi: 10.26355/eurrev_202303_31788.

ABSTRACT

OBJECTIVE: This study was aimed at comparing the routine laboratory parameters and Galectin-1 levels of control and polycystic ovarian syndrome patients.

PATIENTS AND METHODS: 88 patients diagnosed with polycystic ovary syndrome and 88 healthy controls were considered for the study. Age groups of the patients ranged from 18 to 40. Serum TSH, Beta HCG, glucose, insulin, HOMA-IR, Hb1A1c, triglyceride, total cholesterol, LDL FSH, LH, E2, prolactin, testosterone, SHBG, DHESO4, HDL, Gal-1 levels were analyzed for each subject.

RESULTS: FSH, LH, LH/FSH, E2, prolactin, testosterone, SHBG, DHESO4, HDL and Gal-1 values of the subjects included in the study were statistically significantly different between the groups (p<0.05). Gal-1 and DHESO4 showed a strong positive connection (p=0.05). The sensitivity of Gal-1 level in PCOS patients was calculated as 0.997 and specificity as 0.716.

CONCLUSIONS: High levels of Gal-1 in PCOS patients suggest that it increases due to overexpression in response to inflammation.

PMID:37013772 | DOI:10.26355/eurrev_202303_31788

Eur Rev Med Pharmacol Sci. 2023 Mar;27(6):2535-2542. doi: 10.26355/eurrev_202303_31787.

ABSTRACT

OBJECTIVE: The purpose of this study was to examine the histopathologic, ultrastructural and immunohistochemical changes in the umbilical cord in women diagnosed with HELLP syndrome.

MATERIALS AND METHODS: Postpartum umbilical cords of 40 patients at the 35-38th week of pregnancy were included. 20 severe preeclamptic (HELLP) and 20 normal umbilical cords were used. After the follow-up of tissue parts of 10% formaldehyde solution for histopathology and immunohistochemistry, histopathological and angiopoietin-1 and vimentin antibodies were examined as immunohistochemical after routine paraffin follow-up. For electron microscope analysis, umbilical cord samples were taken into 2.5% glutaral aldehyde solution.

RESULTS: In the statistical comparison, mean difference in increased diameter and additional anomaly on the ultrasound of preeclamptic patients was statistically different compared to control patients. In the HELLP group, hyperplasia and degenerative changes, pyknosis of the endothelial cell nuclei of the vessels and apoptotic changes in some regions were observed. Immunohistochemical analysis showed that endothelial cells, basal membrane and fibroblast cells in the HELLP group expressed high levels of vimentin. Angiotensin-1 expression was increased in amniotic epithelial cells, endothelial cells and some pericyte cells.

CONCLUSIONS: As a result, it was observed that the signaling that started with trophoblastic invasion with the effect of hypoxia in severe preeclampsia and continued with dysfunction in endothelial cells was parallel to the increase in angiotensin and vimentin receptors. It is thought that the ultrastructural change in endothelial cells may cause disruption of the collagenized structure in Wharton gel, which supports this, and may cause adverse effects in fetal development and nutrition.

PMID:37013771 | DOI:10.26355/eurrev_202303_31787