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Nevin Manimala Statistics

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

Turk Arch Pediatr. 2024 Mar;59(2):170-178. doi: 10.5152/TurkArchPediatr.2024.23231.

ABSTRACT

OBJECTIVE: Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each other.

MATERIALS AND METHODS: The demographic characteristics as well as cutaneous and extracutaneous findings of consecutive Gorlin syndrome patients diagnosed during 23 years were evaluated retrospectively. The relationship between palmoplantar pitting and basal cell carcinoma (BCC) in this localization and the relationship between odontogenic keratocysts (OKCs) and epidermoid cysts were investigated.

RESULTS: A total of 30 patients were diagnosed with Gorlin syndrome of whom 36.7% were children. BCC was the most common finding (90%) followed by OKCs (83.3%), skeletal system anomalies (76.7%), and palmoplantar pitting (76.7%). While classical BCC (63.3%) lesions were the predominant clinical subtype among all patients, acrochordon-like or small-sized papular BCCs were seen in 45.4% of pediatric patients. Three patients, 2 of whom were children, had BCC lesions in the palmoplantar region in association with palmoplantar pitting. Epidermoid cysts presenting clinically as solitary (n = 12) or a few nodules (n = 4) without punctum, located more commonly in acral areas (n = 10) were seen in 16 (53.3%) patients of whom 7 were children. Epidermoid cysts were seen in 60% of patients with OKCs, and the relationship between epidermoid cysts and OKCs was not statistically significant (P = .15). Extracutaneous tumors such as medulloblastoma (n = 3), cardiac fibroma (n = 1), and ameloblastoma (n = 1) were also recorded.

CONCLUSION: The awareness of papular or acrochordon-like BCCs, palmoplantar BCCs, and acral epidermoid cysts without punctum may facilitate early diagnosis of Gorlin syndrome in children.

PMID:38454226 | DOI:10.5152/TurkArchPediatr.2024.23231

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Change in the Frequency of Diabetic Ketoacidosis in Children with Newly Diagnosed Type 1 Diabetes in the Central Anatolia Region of Turkey over the Years Before and After the Coronavirus Disease 2019 Pandemic: A Single-Center Experience

Turk Arch Pediatr. 2024 Mar;59(2):163-169. doi: 10.5152/TurkArchPediatr.2024.23255.

ABSTRACT

OBJECTIVE: The number of admissions for severe diabetic ketoacidosis (DKA) in children with newly diagnosed type 1 diabetes (T1D) increased during the coronavirus disease 2019 pandemic. We aimed to investigate whether there has been a change in this situation in recent years.

MATERIALS AND METHODS: All children with T1D who were diagnosed in our tertiary hospital between 2019 and 2023 were included. Plasma insulin, C-peptide, hemoglobin A1c (HbA1c), and antibodies against thyroid peroxidase, thyroglobulin, insulin, islet cell, glutamic acid decarboxylase, tissue transglutaminase IgA, and endomysium IgA were measured.

RESULTS: The frequency of moderate-severe acidosis at admission, which increased after pandemic period compared to the pre-pandemic period, returns to its previous levels over time but still shows a statistical difference compared to the pre-pandemic period (P = .012). Age, blood gas pH and HCO3 level, C-peptide, HbA1c, and length of stay of children at the time of admission were compared year by year (years 2019-2023). No statistical differences were observed (P = .509, P = .181, P = .069, P = .469, P = .346, P = .946), respectively. A significant difference was observed in venous glucose (P .001) and insulin (P = .001) according to years. Also, no significant difference was found about the degree of acidosis according to age (P = .334).

CONCLUSION: Although the frequency of DKA in children with newly-diagnosed T1D increased in the first years of the pandemic, it has been decreasing over t.

PMID:38454225 | DOI:10.5152/TurkArchPediatr.2024.23255

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The Prevalence of Tobacco Product Use Among Students in the Faculty of Medicine at Pamukkale University and Their Views on the Smoke-Free Campus Implementation

Thorac Res Pract. 2024 Mar;25(2):82-88. doi: 10.5152/ThoracResPract.2024.23050.

ABSTRACT

OBJECTIVE: Tobacco use is an important risk factor for more than 20 types of cancer, especially cardiovascular and respiratory diseases, and many other health problems. Cigarettes are one of the most commonly used tobacco products in the world, and they can cause both physical and mental addiction. Adolescence is known to be the highest-risk period in terms of addiction among all age groups. As a result, smoke-free campus practices have become even more important in universities. This study investigates the prevalence of smoking among Pamukkale Medical School students and their views and behaviors regarding smoke-free campus practices.

MATERIAL AND METHODS: This cross-sectional study was conducted with 548 medical students at Pamukkale Universıty Faculty of Medicine during the academic year 2021-2022, between April 1-29, 2022. A face-to-face interview was conducted. Students’ smoking status and their views about a smoke-free campus were assessed. In the questionnaire, the independent variables were socio-demographic characteristics, duration of staying in a smoke-free environment, smoking status in the place of residence, areas where smoking is most common, Fagerström nicotine dependence level, knowledge about smoke-free campus applications and campuses with the smokefree application. The Statistical Package for the Social Sciences version 21.0 package program was used to analyze the data. Descriptive statistics are presented with numbers and percentages for categorical variables, while the arithmetic mean and standard deviation are used for continuous variables. The chi-square test was used to compare categorical variables,and the Kolmogorov-Smirnov analysis was used to test the compatibility of data to normal distribution.

RESULTS: The student smoking rate increased significantly as the number of semesters increased (P = .021). The smoking rate of male students was higher than that of female students (P = .001). The smoking rate of students living with their family or relatives was lower (P = .020). Smokers (14.7%) were more likely to have heard about the introduction of smoke-free zones on campus than nonsmokers (11%) (P = .280). 81.4% of students affirmed the statement, “The number of smoke-free rooms should be increased,” and 84.3% responded, “I support the existence of smoke-free spaces.” Nonsmoking students (90.8%) are more likely to agree that smoke-free spaces should be increased than those who smoke (57.7%) (P < .001). Among the students, 17.6% of nonsmokers and 37.8% of smokers find the information about smoke-free spaces sufficient (P < .001). The rate of those who consider smoke-free space inspections to be sufficient is lower for nonsmoking students than for nonsmokers (P = .017). Nonsmokers (89.5%) support the existence of smoke-free spaces to a higher degree than smokers (71.2%) (P < .001).

CONCLUSION: One-third of Pamukkale University Faculty of Medicine students smoke, and smoking rates are higher among men and those who do not live with family or relatives. All participants strongly support the existence of smoke-free zones (84.3%), while a proportion of tobacco users (31.4%) support the implementation of a smoke-free campus. Student opinions of the smoke-free zones and the smoke-free campus application are more positive among nonsmokers than smokers.

PMID:38454204 | DOI:10.5152/ThoracResPract.2024.23050

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Tocilizumab Reduces Lung Injury in a Rat Lung Ischemia and Reperfusion Model

Thorac Res Pract. 2024 Mar;25(2):62-67. doi: 10.5152/ThoracResPract.2024.23061.

ABSTRACT

OBJECTIVE: In this study, the effect of tocilizumab (TCZ) on lung tissue in lung ischemia-reperfusion (I/R) injury in rats was investigated.

MATERIAL AND METHODS: A total of 24 Wistar rats were divided into 4 equal groups, with 6 rats in each group: Left lung I/R was applied to I/R groups. In the I/R groups, the left lung hilum was clamped for 45 minutes, and then the clamp was removed and reperfused for 120 minutes. In the TCZ groups, 4 mg/kg and 8 mg/kg of TCZ were administered intraperitoneally to the rats 30 minutes before surgery.

RESULTS: The tumor necrosis factor-alpha mean value was not statistically significant between the groups (P = .091). Statistically significant results were observed between group I/R-TCZ (8 mg/kg) and group I/R for catalase. (P = .005). Statistically significant results were observed between group I/R-TCZ (8 mg/kg) and group I/R for malondialdehyde. (P = .009). The difference in total ischemia score between group I/R-TCZ (4 mg/kg) and group I/R-TCZ (8 mg/kg) and group I/R was statistically significant (P < .001). In terms of alveolar hemorrhage, there was a statistically significant difference between group I/R-TCZ (4 mg/kg) and group I/R-TCZ (8 mg/kg) and group I/R (P = .01 and P = .002, respectively). There was a statistically significant difference between group I/R-TCZ (8 mg/kg) and group I/R in terms of neutrophil accumulation (P = .01). In terms of interstitial edema, there was a statistically significant difference between group I/R-TCZ (4 mg/kg) and group I/R-TCZ (8 mg/kg) and group I/R (P = .006 and P = .001, respectively). In terms of pulmonary edema, there was a statistically significant difference between group I/R-TCZ (4 mg/kg) and group I/R-TCZ (8 mg/kg) and group I/R (P = .01 and P = .009, respectively).

CONCLUSION: Lung tissue may be affected by I/R injury and this damage can be reversed with the use of TCZ.

PMID:38454201 | DOI:10.5152/ThoracResPract.2024.23061

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A new understanding of clinical patterns in post-TB lung disease

Int J Tuberc Lung Dis. 2024 Mar 1;28(3):115-121. doi: 10.5588/ijtld.23.0327.

ABSTRACT

<sec id=”st1″><title>BACKGROUND</title>Post-TB lung disease (PTLD) can be categorised based on physiological, radiological, and clinical abnormalities, delineating distinct clinical patterns; however, thus far the importance of this is unknown. People with PTLD have a high morbidity and increased mortality, but predictors of long-term outcomes are poorly understood.</sec><sec id=”st2″><title>METHODS</title>We conducted an observational study of PTLD patients attending a tertiary hospital in South Africa between 1 October 2021 and 30 September 2022. Patient demographics, risk factors, symptoms, lung function tests and outcomes were captured.</sec><sec id=”st3″><title>RESULTS</title>A total of 185 patients were included (mean age: 45.2 years, SD ±14.3). Half of patients reported only one previous episode of Mycobacterium tuberculosis infection (n = 94, 50.8%). There was a statistically significant association between TB-associated obstructive lung disease (OLD) and dyspnoea (P = 0.002), chest pain (P = 0.014) and smoking (P = 0.005). There were significant associations between haemoptysis and both cavitation (P = 0.015) and fungal-associated disease (P < 0.001). Six patients (3.2%) died by study end.</sec><sec id=”st4″><title>CONCLUSION</title>PTLD can affect young people even with only one previous episode of TB, and carries a high mortality rate. For the first time, clinical patterns have been shown to have meaningful differences; TB-related OLD is associated with dyspnoea, chest pain and smoking; while haemoptysis is associated with cavitary and fungal-associated disease.</sec>.

PMID:38454184 | DOI:10.5588/ijtld.23.0327

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Author Correction: Urease inhibitors technologies as strategy to mitigate agricultural ammonia emissions and enhance the use efficiency of urea-based fertilizers

Sci Rep. 2024 Mar 7;14(1):5655. doi: 10.1038/s41598-024-56270-4.

NO ABSTRACT

PMID:38454148 | DOI:10.1038/s41598-024-56270-4

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Kernel Bayesian nonlinear matrix factorization based on variational inference for human-virus protein-protein interaction prediction

Sci Rep. 2024 Mar 8;14(1):5693. doi: 10.1038/s41598-024-56208-w.

ABSTRACT

Identification of potential human-virus protein-protein interactions (PPIs) contributes to the understanding of the mechanisms of viral infection and to the development of antiviral drugs. Existing computational models often have more hyperparameters that need to be adjusted manually, which limits their computational efficiency and generalization ability. Based on this, this study proposes a kernel Bayesian logistic matrix decomposition model with automatic rank determination, VKBNMF, for the prediction of human-virus PPIs. VKBNMF introduces auxiliary information into the logistic matrix decomposition and sets the prior probabilities of the latent variables to build a Bayesian framework for automatic parameter search. In addition, we construct the variational inference framework of VKBNMF to ensure the solution efficiency. The experimental results show that for the scenarios of paired PPIs, VKBNMF achieves an average AUPR of 0.9101, 0.9316, 0.8727, and 0.9517 on the four benchmark datasets, respectively, and for the scenarios of new human (viral) proteins, VKBNMF still achieves a higher hit rate. The case study also further demonstrated that VKBNMF can be used as an effective tool for the prediction of human-virus PPIs.

PMID:38454139 | DOI:10.1038/s41598-024-56208-w

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Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk

J Hum Genet. 2024 Mar 7. doi: 10.1038/s10038-024-01235-8. Online ahead of print.

ABSTRACT

A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR, PCSK9, APOC3 and IFITM5, at exome-wide significance. In addition, a further 43 protein-coding genes were significant with an uncorrected p value of <0.001. Exome sequence data has become available for a further 270,000 participants and weighted burden analysis to test for association with hyperlipidaemia was carried out in this sample for the 47 genes highlighted by the previous study. There was no evidence to implicate IFITM5 but LDLR, PCSK9, APOC3, ANGPTL3, ABCG5 and NPC1L1 were all statistically significant after correction for multiple testing. These six genes were also all exome-wide significant in the combined sample of 470,000 participants. Variants impairing function of LDLR and ABCG5 were associated with increased risk whereas variants in the other genes were protective. Variant categories associated with large effect sizes are cumulatively very rare and the main benefit of this kind of study seems to be to throw light on the molecular mechanisms impacting hyperlipidaemia risk, hopefully supporting attempts to develop improved therapies.

PMID:38454133 | DOI:10.1038/s10038-024-01235-8

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Treatment outcome and survival status among adult patients treated for lupus nephritis in selected tertiary hospitals of Ethiopia

Sci Rep. 2024 Mar 7;14(1):5603. doi: 10.1038/s41598-024-56317-6.

ABSTRACT

Lupus nephritis (LN) is kidney involvement of systematic lupus erythematous that ranges from mild to severe and occurs in 60% of adult patients. Despite advances in therapy, LN morbidity and mortality remains high. There is a paucity of data regarding adult LN patient’s treatment outcome, survival status, and associated factors in developing countries, particularly in Ethiopia. This study aimed to assess the treatment outcome, survival status, and associated factors of adult patients treated for LN in two selected tertiary hospitals [Tikur Anbessa Specialized Hospital (TASH) and St. Paul’s Hospital Millennium Medical College (SPHMMC)] of Addis Ababa, Ethiopia. A hospital-based retrospective cross-sectional multicenter study was conducted from January 1, 2016 to January 1, 2021. Socio-demographic, clinical, and treatment-related data were collected from patient’s medical records by using a structured abstraction checklist. Descriptive statistics were used to summarize the quantitative data as appropriate. The modified Aspreva Lupus Management Study (mALMS) criteria was applied to categorize LN treatment outcomes into complete, partial, and non-response. Multinomial logistic regression analysis was performed to identify predictors of LN treatment outcome. Patients’ survival was estimated by using Kaplan-Meier and Cox proportion regression analysis. P value < 0.05 was considered to declare statistical significance. A total of 200 LN patients were included in the final analysis. Amongst these, the majority of them (91.5%) were females. The median age of the patients was 28 (15-60) years. The mean duration of treatment follow-up was 28 months. The commonly prescribed immunosuppressive drugs during both the induction (49.5%) and maintenance (60%) phases were a combination of mycophenolate mofetil with prednisolone. Complete, partial, and non-responses at the last follow-up visit accounted for 66.5%, 18.0%, and 15.5%, respectively. Patient survival at the last follow-up visit was more than 90% for patients with complete response to the induction therapy. Non-response at the last follow-up visit was significantly associated with severe disease activity index (adjusted odds ratio [AOR] = 6.25, 95% confidence interval [CI] 1.49-26.10), presence of comorbidity (AOR = 0.21, 95% CI 0.05-0.92), baseline leucopenia (AOR = 14.2, 95% CI 1.04-201.3), partial response at the end of induction therapy (AOR = 32.63, 95% CI 1.4-736.0), and duration of induction therapy of greater than 6 months (AOR = 19.47, 95% CI 1.5-258.8). This study unveiled that lower numbers of LN patients were presented with non-response at the last follow-up visit and non-response to induction therapy was associated with lower patients’ survival rates compared with complete or partial response.

PMID:38454130 | DOI:10.1038/s41598-024-56317-6

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Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors

Nat Med. 2024 Mar 7. doi: 10.1038/s41591-024-02837-7. Online ahead of print.

ABSTRACT

Survivors of childhood cancer are at increased risk for subsequent cancers attributable to the late effects of radiotherapy and other treatment exposures; thus, further understanding of the impact of genetic predisposition on risk is needed. Combining genotype data for 11,220 5-year survivors from the Childhood Cancer Survivor Study and the St Jude Lifetime Cohort, we found that cancer-specific polygenic risk scores (PRSs) derived from general population, genome-wide association study, cancer loci identified survivors of European ancestry at increased risk of subsequent basal cell carcinoma (odds ratio per s.d. of the PRS: OR = 1.37, 95% confidence interval (CI) = 1.29-1.46), female breast cancer (OR = 1.42, 95% CI = 1.27-1.58), thyroid cancer (OR = 1.48, 95% CI = 1.31-1.67), squamous cell carcinoma (OR = 1.20, 95% CI = 1.00-1.44) and melanoma (OR = 1.60, 95% CI = 1.31-1.96); however, the association for colorectal cancer was not significant (OR = 1.19, 95% CI = 0.94-1.52). An investigation of joint associations between PRSs and radiotherapy found more than additive increased risks of basal cell carcinoma, and breast and thyroid cancers. For survivors with radiotherapy exposure, the cumulative incidence of subsequent cancer by age 50 years was increased for those with high versus low PRS. These findings suggest a degree of shared genetic etiology for these malignancy types in the general population and survivors, which remains evident in the context of strong radiotherapy-related risk.

PMID:38454124 | DOI:10.1038/s41591-024-02837-7