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BioRxiv : the Preprint Server For... Jun 2024Both transcription and replication can take place simultaneously on the same DNA template, potentially leading to transcription-replication conflicts (TRCs) and...
Both transcription and replication can take place simultaneously on the same DNA template, potentially leading to transcription-replication conflicts (TRCs) and topological problems. Here we asked which topoisomerase(s) is/are the best candidate(s) for sensing TRC. Genome-wide topoisomerase binding sites were mapped in parallel for all the nuclear topoisomerases (TOP1, TOP2A, TOP2B, TOP3A and TOP3B). To increase the signal to noise ratio (SNR), we used ectopic expression of those topoisomerases in H293 cells followed by a modified CUT&Tag method. Although each topoisomerase showed distinct binding patterns, all topoisomerase binding signals positively correlated with gene transcription. TOP3A binding signals were suppressed by DNA replication inhibition. This was also observed but to a lesser extent for TOP2A and TOP2B. Hence, we propose the involvement of TOP3A in sensing both head-on TRCs (HO-TRCs) and codirectional TRCs (CD-TRCs). In which case, the TOP3A signals appear concentrated within the promoters and first 20 kb regions of the 5' -end of genes, suggesting the prevalence of TRCs and the recruitment of TOP3A in the 5'-regions of transcribed and replicated genes.
PubMed: 38948815
DOI: 10.1101/2024.06.17.599352 -
BioRxiv : the Preprint Server For... Oct 2023Low nephron endowment at birth is a risk factor for chronic kidney disease. The prevalence of this condition is increasing due to higher survival rates of preterm...
Low nephron endowment at birth is a risk factor for chronic kidney disease. The prevalence of this condition is increasing due to higher survival rates of preterm infants and children with multi- organ birth defect syndromes that affect the kidney and urinary tract. We created a mouse model of congenital low nephron number due to deletion of in nephron progenitor cells. is a core component of the Nucleosome Remodeling and Deacetylase (NuRD) chromatin remodeling complex. These mice developed albuminuria at 4 weeks of age followed by focal segmental glomerulosclerosis (FSGS) at 8 weeks, with progressive kidney injury and fibrosis. Our studies reveal that altered mitochondrial metabolism in the post-natal period leads to accumulation of neutral lipids in glomeruli at 4 weeks of age followed by reduced mitochondrial oxygen consumption. We found that NuRD cooperated with Zbtb7a/7b to regulate a large number of metabolic genes required for fatty acid oxidation and oxidative phosphorylation. Analysis of human kidney tissue also supported a role for reduced mitochondrial lipid metabolism and ZBTB7A/7B in FSGS and CKD. We propose that an inability to meet the physiological and metabolic demands of post-natal somatic growth of the kidney promotes the transition to CKD in the setting of glomerular hypertrophy due to low nephron endowment.
PubMed: 38948707
DOI: 10.1101/2023.10.18.562984 -
Postepy Psychiatrii Neurologii Mar 2024The STATIC-99 instrument is one of the tools used for the assessment of the risk of recidivism, in line with the actuarial approach. One of the risk factors indicated by...
PURPOSE
The STATIC-99 instrument is one of the tools used for the assessment of the risk of recidivism, in line with the actuarial approach. One of the risk factors indicated by the scientific literature as having the greatest significance is sexual preference disorder. The aim of the study was to verify whether sexual offenders diagnosed with sexual preference disorders have a higher risk of recidivism. The study also aimed to present, for the first time in Poland, a quantitative scoring of individual risk factors in STATIC-99R and their prevalence, allowing for the verification of the theoretical validity of the STATIC-99R instrument in the analysis of the population of sexual offenders in Poland.
METHODS
The study material consisted of 100 court and penitentiary files of perpetrators of crimes against sexual freedom from 11 Polish penal institutions and remand centers. We used the STATIC-99R to evaluate each case.
RESULTS
The distribution of the individual STATIC-99R risk factors in the population of the Polish sexual offenders is presented. The diagnosis of sexual preference disorders had no influence on the total STATIC-99R score but was associated with its individual factors.
CONCLUSIONS
It can be concluded that the theoretical validity of the STATIC-99R tool is also relevant to the Polish study population and may be used in clinical practice.
PubMed: 38948683
DOI: 10.5114/ppn.2024.135261 -
Journal of Family Medicine and Primary... May 2024Hypertension is one of the leading causes of death worldwide, affecting over one billion people. It is responsible for roughly half of all heart disease and...
BACKGROUND
Hypertension is one of the leading causes of death worldwide, affecting over one billion people. It is responsible for roughly half of all heart disease and stroke-related deaths globally. Because hypertension does not cause any symptoms on its own, it is commonly referred to as "the silent killer."
OBJECTIVE
This study aimed to determine (1) the prevalence of hypertension and its associated risk factors and (2) the level of awareness of hypertension status among study participants.
MATERIAL AND METHODS
A facility-based cross-sectional analytical study was conducted for 3 months during January-March 2023 at the teaching institution in Etawah District, Uttar Pradesh. It was conducted among 392 study participants who were ≥18 years old. Data were collected through a predesigned, pretested, semi-structured questionnaire, and anthropometric measurement was determined using standard guidelines.
RESULTS
The overall prevalence of hypertension screening was 69.4% (male: 33.8% and female: 66.2%), respectively. The majority of hypertensives were found in female participants. Tobacco and alcohol consumption, obesity, physical inactivity, stress and strain, and an unhealthy diet were also associated with hypertension. Among 392 study participants, only 67 (24.6%) were aware of their hypertension status.
CONCLUSION
We conclude that hypertension has been described as an "Iceberg disease" as those who suffer are usually unaware and hence usually seek healthcare services at a very late stage. Preventive measures should be needed to improve hypertension screening, awareness, treatment, and control.
PubMed: 38948635
DOI: 10.4103/jfmpc.jfmpc_1835_23 -
Journal of Family Medicine and Primary... May 2024Telephobia is a kind of anxiety disorder in which the individual is afraid of either answering or making telephone calls. This study was conducted to determine the...
BACKGROUND
Telephobia is a kind of anxiety disorder in which the individual is afraid of either answering or making telephone calls. This study was conducted to determine the prevalence of telephobia among medical students and to determine the association of socio-demographic and other factors with this disorder.
METHODS
A total of 320 undergraduate medical students were enrolled at a tertiary medical college in Western India, of which 300 (93.75%) responded to the survey. A stratified sampling strategy with the proportional allocation method was used in which 40 males and 20 females were selected from each year of students, spanning 5 years. A specially designed semi-structured questionnaire was used for the study, consisting of demographic data, purpose of using the internet, gadget used, and a 10-item telephobia questionnaire modified from the Severity Measure for Agoraphobia-Adult (SMA-A) Questionnaire to measure student's avoidance of telephone calling and receiving.
RESULTS
The mean age of the study participants was 21.91 (±1.84) years, and most of the students were urban residents (184, 61.3%). The prevalence of mild, moderate, and severe telephobia was 33.0%, 7.67%, and 1.33%, respectively, giving an overall prevalence of 42%. Univariate analysis revealed that male gender (χ = 9.822, df = 3, = 0.0201), higher duration of internet usage (χ = 41.15, df = 9, value < 0.000), and viewing porn (χ = 15.94, df = 3, = 0.0011) had significant association with higher severity of telephobia. Viewing of porn sites was reported by 65 (21.7%) medical students, exclusively among males.
CONCLUSION
A prevalence of 9% moderate to severe telephobia among medical students is much alarming, which may aggravate further as the students move from academic to clinical settings. The phenomenon of telephobia needs further exploration, to find its determinants and predictors, especially among vulnerable populations.
PubMed: 38948634
DOI: 10.4103/jfmpc.jfmpc_1673_23 -
Journal of Family Medicine and Primary... May 2024COVID-19 is a disease caused by the severe acute respiratory syndrome coronavirus 2 that has appeared as a global pandemic in recent times. Currently, the transmission...
INTRODUCTION
COVID-19 is a disease caused by the severe acute respiratory syndrome coronavirus 2 that has appeared as a global pandemic in recent times. Currently, the transmission rate has slowed down significantly, but the definite pathological reason behind this is still unknown. Therefore, the prevalence of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibody must be studied to establish the relation between the rate of transmission and antibody presence.
MATERIALS AND METHODS
A clinical assessment was performed to evaluate the seroprevalence of SARS-CoV-2 Immunoglobulin G (IgG) antibodies among 299 healthy volunteers in the period of February to May 2021. Serum samples were analyzed using chemiluminescent microparticle immunoassay (CMIA) technology to detect the presence of IgG antibodies.
RESULT
It was observed that 21% of the participants were seropositive, and 78% of the population was seronegative across the different genders. This confirmed that the generation of antibodies is independent of gender. Simultaneously, a -test was performed that further suggested no statistical correlation between gender and seroprevalence. Moreover, a comprehensive analysis was performed to establish the relation between age and blood group with the seroprevalence. However, there was no statistical relationship found among these parameters.
CONCLUSION
This study assisted in examining the underlying causes of high or low seroprevalence among healthy volunteers.
PubMed: 38948624
DOI: 10.4103/jfmpc.jfmpc_780_23 -
Journal of Family Medicine and Primary... May 2024Healthcare work is a major risk for having musculoskeletal disorders (MSDs), including low back pain (LBP). This study aimed to estimate the prevalence of LBP and define...
BACKGROUND
Healthcare work is a major risk for having musculoskeletal disorders (MSDs), including low back pain (LBP). This study aimed to estimate the prevalence of LBP and define its associated risk factors among resident physicians.
MATERIAL AND METHODS
A descriptive cross-sectional survey was conducted among all resident physicians of all specialties in Abha city during the period from July 2020 to September 2020. Data were collected using an online pre-structured data collection tool. The Nordic Musculoskeletal Questionnaire (NMQ) (back pain section) was applied to assess the effect of LBP on the residents' ability to perform job duties effectively.
RESULTS
A total of 312 resident physicians responded. Their age ranged between 25 and 41 years. Males represented 57.7% of them. The prevalence of LBP was 64.7%. The most common reported aggravating factors for LBP were working in uncomfortable posture (73.3%), standing for long periods (64.4%), and long sitting sessions (51.5%). Regarding the pain-relieving factors, sleeping ranked first (60.4%), followed by taking analgesics (48.5%) and maintaining a good posture (35.6%). Multivariate logistic regression analysis revealed that obese subjects were at higher risk than underweight subjects to develop LBP (adjusted odds ratio (AOR) =6.18, 95% confidence interval (CI): 1.26-30.34, = 0.025). Compared to resident physicians without family history of back pain, those with such history were at almost 4-fold higher risk of developing LBP (AOR = 3.90, 95% CI: 2.33-6.52, < 0.001).
CONCLUSION
LBP is a very prevalent problem among resident physicians, particularly obese subjects and those with family history of back pain. LBP adversely impacts the work performance of the affected physicians.
PubMed: 38948619
DOI: 10.4103/jfmpc.jfmpc_1726_23 -
Journal of Family Medicine and Primary... May 2024The Sunderban area of West Bengal is home to tribal and religious minorities inhabiting various islands. There is a high prevalence of thalassemia among poverty-stricken...
INTRODUCTION
The Sunderban area of West Bengal is home to tribal and religious minorities inhabiting various islands. There is a high prevalence of thalassemia among poverty-stricken residents of this region living with meagre health care facilities. This work was planned to determine the proportion of four viral transfusion-transmitted infections (TTIs): HIV-1, HIV-2, hepatitis B virus (HBV) and hepatitis C virus (HCV) among thalassemia patients attending the sole rural medical college in the region.
MATERIALS AND METHODS
Thalassemia patients ( = 359, age ranging from 1 year to 60 years) attending the thalassemia clinic or being admitted to the indoor facilities for better management were included in the study. Only patients diagnosed with high-performance liquid chromatography (HPLC) and with classical clinical features were included in the study. Blood samples of these patients were tested for HIV as per NACO protocol. For HBV and HCV, samples were first tested serologically; reactive samples were collected and sent in the cold chain to a higher centre for nucleic acid amplification testing (NAAT) for qualitative and quantitative estimation. Clinical and laboratory data was collected, patients were followed up for complications and hospitalisation during the study period, and statistical analysis was performed.
RESULTS
Majority of our patients had E-beta-thalassemia (245, 59.81%), followed by beta-thalassemia major (102, 28.30%). NAAT-confirmed HCV infection (14.21%) infection was the most common, followed by HBV (2.51%), and lastly by HIV-1 (0.58%) infection. Among infected thalassemia patients, the mean HCV RNA was 741063 ± 438514.67 IU/ml while the mean HBV DNA level was 4082863 ± 7298514 IU/ml. Co-infections of HIV-1 and HCV and that of HBV and HCV were noted in one patient each (0.28%). HCV-related liver disease (14.21%) and growth retardation (10.31%) were the most typical complication noted, and death occurred in five patients (1.39%) during the study period.
CONCLUSION
Primary care physicians should know HCV infection is the most common TTI among thalassemia patients in rural eastern India.
PubMed: 38948618
DOI: 10.4103/jfmpc.jfmpc_1751_23 -
Journal of Family Medicine and Primary... May 2024The COVID-19 pandemic changed people's lives. The majority had to adapt to working online including students. The shift to online learning caused serious sleep and...
BACKGROUND
The COVID-19 pandemic changed people's lives. The majority had to adapt to working online including students. The shift to online learning caused serious sleep and mental health issues among students. This study aimed to examine the variations between the prevalence of sleep and mental health problems among undergraduate students during the periods of online learning and on-campus learning.
METHOD
An online survey was distributed to medical students in Saudi Arabia.
RESULTS
A total of 110 participated in the study (age = 21 ± 1.4 years). The on-campus anxiety (8.2 ± 6.3) was significantly higher than online anxiety (5.5 ± 5.1). On-campus daytime sleepiness (8.5 ± 4) was significantly higher when compared to online daytime sleepiness (6.7 ± 4.6). Although not significant, the on-campus stress (7.7 ± 5.7) and insomnia (12 ± 7.3) were higher than online stress (6.9 ± 5.5) and insomnia (11.5 ± 6). The online depression (6.6 ± 5.7) was higher than the mean on-campus depression (5.8 ± 5.4). A significant strong positive correlation was found between on-campus anxiety and on-campus stress. A significant moderate positive correlation was detected between on-campus anxiety and on-campus daytime sleepiness. A weak but significant correlation was found between on-campus anxiety and on-campus insomnia. On-campus anxiety was significantly predicted by the following model, which included on-campus stress, insomnia, and daytime sleepiness ( < .001).
CONCLUSION
Medical students reported lower anxiety, daytime sleepiness, stress, and insomnia during their online learning compared to on-campus learning. Only depression was higher during online learning compared to on-campus learning.
PubMed: 38948610
DOI: 10.4103/jfmpc.jfmpc_1790_23 -
Journal of Family Medicine and Primary... May 2024Hepatitis C virus (HCV) infection is the most common chronic blood-borne disease and is more commonly associated with chronic active hepatitis leading to cirrhosis,...
INTRODUCTION
Hepatitis C virus (HCV) infection is the most common chronic blood-borne disease and is more commonly associated with chronic active hepatitis leading to cirrhosis, hepato-cellular carcinoma and end-stage liver disease.
METHODOLOGY
160 consecutive screening positive (Enzyme linked immuno sorbent assay positive) Hepatitis C samples were tested by HCV RNA Real Time-PCR for confirmation.
RESULT
Prevalence of confirmed hepatitis C among screening positive patient in the present study was found to be 24.4%. Vaccinated individual with Hepatitis A and Hepatitis B had significant association with PCR positivity in screening positive Hepatitis C patient (< 0.05). IV drug users and patient having multiple sex partners have significant association with PCR positivity among screening positive Hepatitis C patients (< 0.05).
CONCLUSION
Due to the lack of an effective vaccine and the increased risk of serious complications, it is important to focus on prevention and early detection of HCV.
PubMed: 38948603
DOI: 10.4103/jfmpc.jfmpc_1794_23