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Factors Contributing to Refusal of Testing in the Pediatric COVID-19 Suspect Population

Background: Coronavirus has been declared a pandemic, and strategies like vaccination, social distancing, and extensive testing have played crucial roles in controlling its spread. Diagnosing COVID-19 in children is particularly challenging due to their susceptibility to upper respiratory tract infections. Studies have indicated that suspected patients often refuse COVID-19 testing.Objective: This study aimed to identify pediatric patients whose parents refused COVID-19 testing despite clinical symptoms and physicians' advice and to highlight significant factors contributing to this refusal.Material and Methods: A cross-sectional descriptive study was conducted at the Department of Pediatrics, Abbasi Shaheed Hospital, Karachi. After consent was obtained, data was collected from the parents of 146 pediatric patients suspected of having COVID-19 using a predesigned proforma. Both quantitative and qualitative data were analyzed.Results: The study showed that 78% (114) of parents refused COVID-19 testing for their children, while 22% (32) agreed. The primary reasons for refusal were: parents believing their child had another illness despite medical advice, fear of side effects, lack of knowledge, fear of quarantine, illiteracy, viewing COVID-19 as a social taboo, and fear of a positive test result.Conclusion: Illiteracy and lack of knowledge were major factors contributing to testing refusal and influenced other reasons as well. Through social and electronic media, it is essential to increase awareness and reduce the fear associated with the disease. Clinicians can play a significant role in educating parents. Enhancing awareness and alleviating fear may lead to greater testing acceptance, contributing to accurate disease statistics and benefiting future research.Keywords: COVID-19, Illiteracy Quarantine, Refusal, Testing.

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  • Journal IconJournal of Saidu Medical College Swat
  • Publication Date IconMay 10, 2025
  • Author Icon Syeda Sana Abbas + 3
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Faecal occult blood testing in persons aged 50–74 years with established spinal cord injury: a prospective case series

Study designProspective Case Series.ObjectivesTo determine the incidence of positive faecal occult blood test (FOBT) in people with spinal cord injury (SCI). We hypothesised that people with SCI have a higher false positive FOBT rate when compared to the general population due to the high prevalence of complications of chronic constipation, and colonic and anorectal trauma from instrumentation.SettingHospital in Sydney, New South Wales, Australia.MethodsA prospective study was conducted at a quaternary hospital with a dedicated spinal injuries unit. Enrolled individuals had two FOBT samples sent. Persons outside the age criteria, or with active per-rectal or vaginal bleeding, anorectal disease, haematuria, recent SCI or colonoscopy, or who had completed FOBT as part of the National Bowel Cancer Screening Program were excluded.ResultsA total of 20 people were included in the study with 50% testing positive on FOBT. Three persons agreed to proceed with colonoscopy. All persons who declined colonoscopy were due to perceived difficulty with procedure preparation. FOBTs were positive in 90% of those who reported rectal enema, digital simulation or manual evacuation as part of their bowel care.ConclusionPeople with SCI have higher rates of positive FOBT compared to the general Australian population whilst follow-up colonoscopy rates were low. Compliance may be improved by bowel preparation protocols. High rates of positive FOBT in this population may be related to complications of constipation and bowel care. Our results suggest that FOBT is not an accurate screening tool in this population.

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  • Journal IconSpinal Cord Series and Cases
  • Publication Date IconMay 9, 2025
  • Author Icon Michael Yulong Wu + 5
Open Access Icon Open AccessJust Published Icon Just Published
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Biochemical profile, age at diagnosis and patient ancestry are associated with the risk for positive genetic testing for PPGL susceptibility genes

Biochemical profile, age at diagnosis and patient ancestry are associated with the risk for positive genetic testing for PPGL susceptibility genes

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  • Journal IconEndocrine Abstracts
  • Publication Date IconMay 9, 2025
  • Author Icon Reut Halperin + 6
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Age of onset of hyperphagia and/or obesity as key predictors of a positive genetic test for POMC, PCSK1 or LEPR deficiency or BBS

Age of onset of hyperphagia and/or obesity as key predictors of a positive genetic test for POMC, PCSK1 or LEPR deficiency or BBS

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  • Journal IconEndocrine Abstracts
  • Publication Date IconMay 9, 2025
  • Author Icon Jesus Argente + 10
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Prevalence of selected infectious agents in Swedish cats with fever and/or anemia compared to cats without fever and/or anemia and to stable/stray cats

BackgroundThere are multiple infectious agents of cats around the world; those transmitted by direct contact among cats, hunting, or exposure to fleas or ticks are frequently the most common. Some infectious disease agents have been reported in cats in Sweden; for example, Anaplasma phagocytophilum infection was first reported in a cat in this country. However, there has not been a study in Sweden that reported test results for agents with different transmission cycles in cats with and without signs of clinical disease. Thus, the aims of this study were to (i) investigate prevalence of exposure to Anaplasma species, Bartonella species, Ehrlichia species, haemotropic Mycoplasma species, feline foamy virus (FFV), Felis catus gammaherpesvirus (FcaGHV1), feline immunodeficiency virus (FIV), feline leukemia virus (FeLV) and Toxoplasma gondii in cats residing in the Southern part of Sweden (ii) compare prevalence in samples between 3 groups of cats (cats with fever and/or anemia, cats without any signs of infectious disease, and cats that were either stray cats or stable cats).ResultsOverall, antibodies were detected against FcaGHV1 (67%, CI 57–76%), FFV (45%, CI 35–55%), Bartonella species (43%, CI 34–54%), T. gondii (37%. CI 28–47%), and FIV (3.3%, CI 1.1–9.2%). FeLV antigen was detected in one cat (1.1%, CI 0.19–5.9%). Haemotropic Mycoplasma DNA was amplified in seven cats (7.6%, CI 3.7–15%). All five samples with successful sequencing were ‘Candidatus M. haemominutum’. The one cat (1.1%, CI 0.19–5.9%) that was positive for B. henselae DNA also had a Bartonella spp. titer of 1:1024. Anaplasma and Ehrlichia spp. DNA were not amplified from any cat.ConclusionsThe antibody test results suggest that many of these cats were exposed to other cats (FFV, FcaGHV1, FIV, FeLV), had inadequate flea control (Bartonella spp.), and were fed undercooked meat or allowed to hunt (T. gondii). While infection was common, the only haemotropic Mycoplasma amplified from these cats was the relatively non-pathogenic ‘Candidatus M. haemominutum’. As previously documented for each of these agents, the presence of a positive test result or infection by one or more organisms is not always associated with illness.

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  • Journal IconActa Veterinaria Scandinavica
  • Publication Date IconMay 9, 2025
  • Author Icon Gunilla Ölmedal + 5
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BCG Revaccination for the Prevention of Mycobacterium tuberculosis Infection

BackgroundIn a previous phase 2 trial, bacille Calmette–Guérin (BCG) revaccination was not shown to provide protection from primary Mycobacterium tuberculosis infection but prevented sustained M. tuberculosis infection, defined by an initial conversion on a QuantiFERON-TB (QFT) test (an interferon-γ release assay) from negative to positive, followed by two additional positive QFT tests at 3 and 6 months after the initial conversion (a secondary end point). A vaccine efficacy of 45% (95% confidence interval [CI], 6 to 68) was observed.MethodsWe performed a phase 2b, double-blind, randomized, placebo-controlled trial to evaluate the efficacy of BCG revaccination, as compared with placebo, for the prevention of sustained QFT test conversion (primary end point) in QFT test–negative, human immunodeficiency virus (HIV)–negative adolescents. Adverse events were assessed in a secondary analysis, and immunogenicity was assessed in an exploratory analysis. Vaccine efficacy was evaluated in the modified intention-to-treat population, which included all the participants who had undergone randomization, received the BCG vaccine or placebo, and had a negative QFT test 10 weeks after receipt of BCG vaccine or placebo; the last criterion was added to exclude participants with M. tuberculosis infection around the time that the vaccine or placebo was administered. Hazard ratios and 95% confidence intervals were estimated from a stratified Cox proportional-hazards model.ResultsA total of 1836 participants underwent randomization; 918 received the BCG vaccine, and 917 received placebo. After a median 30 months of follow-up, a sustained QFT test conversion was observed in 62 of 871 participants in the BCG-vaccine group and 59 of 849 participants in the placebo group. The hazard ratio for a sustained QFT test conversion (BCG vaccine vs. placebo) was 1.04 (95% CI, 0.73 to 1.48), for a vaccine efficacy point estimate of −3.8% (95% CI, −48.3 to 27.4). Adverse events occurred more frequently in the BCG-vaccine group than in the placebo group, and most were due to injection-site reactions (pain, redness, swelling, and ulceration). BCG revaccination induced cytokine-positive type 1 helper CD4 T cells.ConclusionsBCG revaccination in QFT–test negative, HIV-negative adolescents did not provide protection from sustained M. tuberculosis infection. (Funded by the Gates Foundation; ClinicalTrials.gov number NCT04152161.)

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  • Journal IconNew England Journal of Medicine
  • Publication Date IconMay 8, 2025
  • Author Icon Alexander C Schmidt + 15
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Child Organ Offer Process (cOOPS): Understanding Infectious Risk Assessment and Mitigation Strategies.

Pediatric Infectious Disease (PID) clinicians involved in solid organ transplantation often assess infection risk and mitigation strategies for donor organ offers. While some guidance is available, real-life practice patterns have not been previously described. We surveyed PID clinicians about organ acceptance and associated posttransplantation interventions using 12 fictitious pediatric case scenarios through 3 PID-specific listservs. Descriptive statistics were employed. 48 (71.6%) of 67 ID respondents were involved in organ offer assessment. Agreement was strong (> 80%) to accept (syphilis, severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2], MRSA, E. coli, TB [liver], rhino/enterovirus) or decline (undifferentiated encephalitis, TB [lung]) organs from these cases, while there was less agreement for cases with risk of coccidioidomycosis, Chagas disease, multi-drug-resistant Acinetobacter baumannii, and influenza. Less agreement was present for posttransplant monitoring and antimicrobial administration. Practice varied in testing and treatment for donors with SARS-CoV-2 positive test, MRSA bacteremia, and Chagas disease. For many pediatric organ offer scenarios, agreement in donor acceptance was high; however, improved education based on currently available recommendations may enhance organ acceptance decision-making. The variability in management highlights educational and research opportunities to optimize strategies to limit the impact of donor-derived infections in pediatric organ recipients.

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  • Journal IconPediatric transplantation
  • Publication Date IconMay 7, 2025
  • Author Icon Trinty Lee + 10
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Predictive role of neutrophil-to-lymphocyte ratio (NLR) in the progression of COVID-19 patients in intensive care unit

Aims: The aim of this study was to evaluate the neutrophil-to-lymphocyte ratio (NLR) as a predictive marker for the prognosis of COVID-19 patients, in order to provide an easy, accessible, and cost-effective way to measure inflammation. Methods: A total of 365 patients, aged over 18 years and admitted to the intensive care unit (ICU) between 01.08.2020 and 31.03.2021 with a positive RT-PCR test for COVID-19, were included. This was a single-center, retrospective study. Demographic data and laboratory results of the patients at the time of the first admission and ICU admission were analyzed. The relationship between NLR values at initial presentation and ICU admission with patient prognosis was statistically investigated. Results: In our study, we found that NLR and d-NLR values at the time of initial hospital admission and ICU admission had a predictive role in forecasting 30-day mortality in COVID-19 patients admitted to the ICU. An NLR cutoff value of>0.48 at first presentation predicted mortality with a sensitivity of 72.2% and a specificity of 46.0%. An NLR cutoff value of 11.7 at ICU admission predicted mortality with a sensitivity of 64.7% and a specificity of 60.9%. Additionally, procalcitonin, CRP, IL-6, D-Dimer, and ferritin levels at both initial admission and ICU admission were found to have a predictive role in mortality. Conclusion: The NLR is a predictive marker for mortality in ICU patients. The lower sensitivity and specificity values compared to those in the literature are attributed to differences in the age, comorbidities, and clinical severity of the patient population included in this study.

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  • Journal IconEurasian Journal of Anesthesiology and Intensive Care
  • Publication Date IconMay 7, 2025
  • Author Icon Nuriye Almeral Aslan + 1
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Differential rates of early gastric cancer in the urban and rural medical centers of Hangzhou, China.

This study aimed to compare gastric cancer (GC) and early gastric cancer (EGC) diagnosis rates between urban and rural, and to investigate potential reasons for the increased GC morbidity in rural areas. Patients who underwent endoscopy at rural and urban medical centers from 2019-2024 were included. We analyzed differences in patients' pre-endoscopic chief complaints and endoscopic diagnoses across the two areas. 32,613 patients from rural medical centers and 70,195 patients from urban centers were included. Significant differences in endoscopic diagnoses were found between the groups, with the EGC diagnosis rate being significantly lower in rural areas than in urban (10.19% vs. 27.19%). Rural patients were more likely to undergo endoscopy for abdominal pain, reflux, abdominal fullness, and melaena (RR = 1.340, 1.431, 1.106, and 1.231, respectively). Fewer rural patients underwent endoscopy due to lab abnormality, including Helicobacter pylori infection, elevated tumor markers, positive fecal occult blood tests, and anemia (RR = 0.591, 0.295, 0.251, and 0.400, respectively). Additionally, rural patients were significantly less likely to undergo endoscopy owing to health screening or surveillance for chronic atrophic gastritis (CAG) (RR = 0.362 and 0.527, respectively). The diagnosis rate of EGC is significantly lower in rural than in urban. Rural patients are more likely to seek endoscopy because they are symptomatic and are less likely to undergo endoscopy for health screening, surveillance for CAG, or lab abnormality. Enhanced health education and awareness programs in rural areas are needed to encourage proactive endoscopic screening and surveillance.

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  • Journal IconClinical and translational gastroenterology
  • Publication Date IconMay 6, 2025
  • Author Icon Lu Sun + 6
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Partial Courses of Fidaxomicin Followed by Oral Vancomycin and the Effect on Recurrence of Clostridioides difficile Infections.

Clostridioides difficile infection (CDI) causes a significant national health care burden. Literature has demonstrated lower rates of CDI recurrence with fidaxomicin compared with oral vancomycin. However, patients are sometimes switched to oral vancomycin before completing a fidaxomicin course. The objective of this study is to evaluate rates of CDI recurrence in full courses of fidaxomicin versus partial courses of fidaxomicin followed by a switch to oral vancomycin. In this single-center, retrospective, cohort study of adults with CDI, patients were screened for inclusion if they received either a full 10-day course of fidaxomicin or partial course of fidaxomicin followed by a switch to oral vancomycin. The primary outcome was the rate of CDI recurrence within 30 days after completion of initial therapy determined by a positive CDI test and initiation of treatment. Ninety-nine patients received a full course of fidaxomicin, and 95 patients received a partial course of fidaxomicin followed by oral vancomycin. Mean age was lower in the full course group compared with the partial course (65.3 years vs 71.5 years, P < 0.002). Clostridioides difficile infection recurrence occurred in 5.1% of the full course group and 7.4% of the partial therapy group (P = 0.503) at 30 days and 13.1% versus 14.7% (P = 0.747) at 90 days. Clostridioides difficile infection-related readmissions at 30 days were similar in the full course and partial course groups (7.1% vs 4.2%, P = 0.389). Partial courses of fidaxomicin followed by oral vancomycin had similar 30-day CDI recurrence compared with full course fidaxomicin.

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  • Journal IconThe Annals of pharmacotherapy
  • Publication Date IconMay 6, 2025
  • Author Icon Irene-Constantina Papamanolis + 6
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Artificial intelligence and colorectal neoplasia detection performances in patients with positive fecal immunochemical test: Meta-analysis and systematic review.

The combination of fecal immunochemical test (FIT) followed by colonoscopy has established itself as one of the preferred population-based screening strategies. Despite extensive exploration of various techniques and technologies, their impact on adenoma detection rate has shown inconsistency across studies in this specific setting "FIT+ population." We aimed to assess the impact of the computer-aided detection (CADe) system in all randomized trials focused on this subpopulation. We searched MEDLINE, EMBASE, and Scopus databases until September 2023 for randomized controlled trials reporting diagnostic accuracy of CADe systems for detection of colorectal neoplasia. The primary outcome was pooled adenoma detection rate, and secondary outcomes were adenoma per colonoscopy, advanced adenoma per colonoscopy, serrated lesions, and nonneoplastic per colonoscopy. Ten randomized trials on 5421 patients were included. Adenoma detection rate was higher in the CADe group than in the standard colonoscopy group (0.62 vs. 0.52; relative risk 1.19; 95% confidence interval 1.08-1.31). CADe also resulted in higher detection performances of both adenomas (incidence rate ratio 1.16; 95% confidence interval 1.09-1.24) and serrated lesions (incidence rate ratio, 1.20; 95% confidence interval 1.05-1.38) at per-polyp analysis. No differences were found for advanced adenomas between the groups. On the other hand, more nonneoplastic polyps were removed in the CADe than the standard group (0.45 vs. 0.34; mean difference 0.06; P = 0.026) in a comparable inspection time. The use of CADe during colonoscopy results in an increased detection of adenomas, and serrated lesions, in a FIT+ setting. The impact on advanced adenomas was not significant. Higher rates of unnecessary removal of nonneoplastic polyps were also reported.

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  • Journal IconDigestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
  • Publication Date IconMay 6, 2025
  • Author Icon Marco Spadaccini + 21
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Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to positive newborn screening (NBS) tests for PKU, providing insights into screening and diagnosis. Methods. The health records of infants who were referred with suspicion of PKU through the Turkish national NBS program to a single referral center between January 2016 and January 2023 were retrospectively reviewed. The study analyzed demographic data, clinical findings, and diagnostic results from hospital records. Logistic regression analysis identified significant predictors of age at admission. Results. This study highlights significant regional differences within Türkiye regarding DBS collection, result reporting, and age at admission. Significant delays in age at admission (expressed as median, [Q1-Q3]) were noted in the Eastern Anatolia (34 days [27-42]), Southeastern Anatolia [34 days (25-42)], and Black Sea regions [26 days (19-33)]. Out of the referred infants, 5.1% and 2.4% had transient tyrosinemia and transient hyperphenylalaninemia, respectively, and these transient conditions were more prevalent among neonates with a history of jaundice. Phenylalanine level was normal in 38.1% of the patients and was considered false positive. Among the 26 (2.36%) patients admitted after 90 days (late admissions), there were 2 PKU patients with untreated Phe levels &gt;20 mg/dL (n=2). Among the 140 infants requiring treatment, 1.43% (n=2) were late admissions (&gt;90 days). A history of PKU in the family and higher initial Phe levels were associated with earlier admissions. Conclusion. This comprehensive analysis underscores the need to enhance NBS programs, particularly in regions with identified delays. Improving healthcare infrastructure, increasing awareness, and implementing targeted health policies are crucial for timely diagnosis and treatment. Future research should address regional disparities and optimize screening protocols to improve outcomes for affected infants.

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  • Journal IconThe Turkish Journal of Pediatrics
  • Publication Date IconMay 5, 2025
  • Author Icon Ayça Burcu Kahraman + 8
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Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data

Identification of somatic and germline BRCA1/2 pathogenic variants in epithelial ovarian cancer (EOC) patients is essential for determining poly-(ADP-ribose)-polymerase (PARP) inhibitor sensitivity and genetic predisposition. In the Netherlands, BRCA1/2 testing changed to a tumor-first approach to efficiently identify both somatic and germline pathogenic variants in all patients. Here, we performed an in-depth evaluation of the first four years of the tumor-first test-pathway. Data of consecutive series of patients diagnosed with EOC in two regions were obtained from the Netherlands Cancer Registry. Tumor and/or germline test data were retrieved from hospital databases. The primary outcome was the percentage of patients completing the BRCA1/2 test-pathway, defined as having a negative tumor test or a referral for a germline test in case of a positive tumor test or no tumor test. Factors associated with test-pathway completion were identified through multivariable logistic regression analysis. In total, 69.8% (757/1085) completed the test-pathway. This was 74.4% in the most recent year. Younger patients, patients diagnosed in year three or four, patients with high-grade serous/high-grade endometrioid carcinoma, advanced stage disease, middle or high socioeconomic status, and patients who underwent surgery or chemotherapy, were more likely to complete the test-pathway. We report inequalities in genetic testing access in EOC patients, which highlight the need for better guideline adherence, particularly in older patients, those with low socioeconomic status, low-grade histotypes, early-stage disease and those without surgery or chemotherapy. Additionally, timely testing of patients, and testing relatives if patients cannot be tested, are crucial to increase test uptake.

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  • Journal IconFamilial Cancer
  • Publication Date IconMay 5, 2025
  • Author Icon Lieke Lanjouw + 16
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Associations Between Antiparietal Cell Antibody Values and Atrophy in a South and Southeast Asian General Population.

To investigate the association between atrophy severity and antiparietal cell antibody (APCA) levels in South and Southeast Asia. APCA is an autoantibody that damages gastric parietal cells; autoimmune gastritis (AIG) is a chronic gastric inflammatory disease related to APCA and severe predominant corpus atrophy. Although a positive APCA result is a key clinical diagnostic tool for AIG, its rates vary widely among ethnic groups, and its exact relationship with AIG and predominant corpus atrophy remains unclear. Associations between histopathology-assessed and endoscopy-assessed atrophy, APCA positivity rates, Helicobacter pylori status, and pepsinogen levels were investigated in 1982 symptomatic patients from Vietnam, Thailand, Myanmar, Bangladesh, and Nepal. Overall, 38.5% of participants were negative for Helicobacter pylori infection, while 57.6% had a current infection. A positive APCA result, defined as a titer >10, was present in 44.0% of participants (95% confidence interval: 41.8%-46.3%, 873/1982). Pathologic atrophy, corpus atrophy, and predominant corpus atrophy were found in 8.7% (169/1982), 5.1% (101/1982), and 4.1% (81/1982) of participants, respectively. Positive APCA rates significantly differed among countries (10.6% to 63.8%, P<0.001). No significant correlation was found between APCA results and the presence or severity of atrophy. Although APCA positivity was high among symptomatic patients from South and Southeast Asian countries, few had severe predominant corpus atrophy or positive pepsinogen tests, which suggests a low rate of AIG in this population. Long-term surveillance of APCA-positive individuals is necessary to determine the clinical significance of a positive APCA result without AIG.

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  • Journal IconJournal of clinical gastroenterology
  • Publication Date IconMay 5, 2025
  • Author Icon Mitsushige Sugimoto + 8
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Exploring landscape of drug abuse trends in Pakistan: A decade and a half of clinical laboratory big data analysis.

The utilization of urine testing for drugs of abuse has emerged as a valuable tool in discerning the evolving landscape of drug abuse patterns. The objective of this study was to determine the patterns of drug of abuse within the Pakistani population, incorporating demographic factors such as age, gender, and location. This observational study was conducted at the Department of Pathology and Laboratory Medicine, Aga Khan University from January 2008 to December 2022. A review of drugs of abuse screening data extracted from laboratory information system was carried out. The panel includes screening of common drugs, amphetamine (AMP), benzodiazepine (BZO), barbiturates (BAR), cannabinoids (THC), cocaine (COC), and opioids (OPI) as well as blood alcohol (ALC) levels. Mean, standard deviation, percentage and frequency were calculated by using STATA version 13.Over a period of 15 years, a total of 130, 859 tests were performed, with 89.5% being male and mean age of 32.4 ± 11.3 years, while seventy-seven percent of the specimens (n = 101, 648) came from the province of Sindh. Of the total 6270 (4.8%) were screened positive for at least one drug, THC (n = 3626, 57.8%) was the most frequently positive test, followed by OPI (n = 1000, 16%), ALC (n = 671, 10.7%), COC (n = 31, 0.5%), AMP (n = 45, 0.7%), BAR (n = 35, 0.6%) and BZO (n = 862, 13.7%). Yearly trend analysis shows an increasing number of THC tests requested over time, with THC exhibiting the highest positivity rate, followed by BZO, OPI, and ALC.The 15-year patterns depict the rising prevalence of drug consumption which is subsequently increasing the demand for drug screening tests. The study highlights Pakistan's growing drug prevalence and calls for targeted policies to address its use, including strengthened prevention programs, improved regulation and better management and rehabilitation access.

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  • Journal IconPLOS global public health
  • Publication Date IconMay 5, 2025
  • Author Icon Yousra Sarfaraz + 7
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Blocked D phenomenon implicated in a diagnostic dilemma in RhD-hemolytic disease affecting twins: case report and review of literature

Background. The Rh blood group system is the most common cause of hemolytic disease of the fetus and newborn (HDFN). Rh antigens are fully expressed at birth unlike ABO antigens which are weakly expressed. Sensitization to the D antigen can occur with exposure to &lt; 0.1 mL of fetal blood. In rare cases of HDFN, these passively transferred IgG anti-D antibodies coat the D antigens on the newborn’s red blood cells and interfere with the agglutination of D-positive red cells when tested with IgM anti-D typing reagents, resulting in false-negative Rh(D) typing. This “blocked D phenomenon,” can pose a diagnostic challenge. Case Presentation. This case report describes twins with HDFN born to a Rh(D) negative mother. Both cord blood and neonatal blood were incorrectly typed as Rh(D) negative using routine typing reagents, creating a diagnostic dilemma. The combination of a positive direct antiglobulin test (DAT), the mother’s RhD-negative status, a positive indirect antiglobulin test (IAT), and discordant or unexpected RhD typing in the neonate raised suspicion of blocked D phenomenon. Paired samples from the parents and neonates were analysed. Following gentle heat elution at 45°C for 10 minutes, the neonatal red cells were re-typed as RhD positive using the conventional tube technique with monoclonal IgM anti-D. At the 6-month follow-up, both infants were phenotyped as O RhD positive. Conclusions. The possibility of the blocking phenomenon should be considered while interpreting blood group results from fetal or neonatal samples in an alloimmunized pregnancy with potent antibodies. All pregnant women, regardless of their RhD type, should be tested for clinically significant unexpected serum antibodies during pregnancy. Elution methods help in identifying correct D antigen when Rh(D) typing gives uncertain results. Antiglobulin testing with anti-IgG should be performed to detect antibodies causing hemolytic disease of the fetus and newborn (HDFN).

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  • Journal IconThe Turkish Journal of Pediatrics
  • Publication Date IconMay 4, 2025
  • Author Icon Abid Ali + 3
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Cytotoxicity of L-asparaginase from eucaryotic Cladosporium species against breast and colon cancer in vitro

BackgroundRecent statistical analyses indicate a rapid increase in the incidence of breast and colon cancer in Egypt. Although invasive techniques have been widely employed for early detection, diagnosis, and intervention of those cancers, they are associated with inherent risks and limitations, which often result in various complications. Therefore, noninvasive screening methods are inevitable due to their accessibility, cost-effectiveness, and high patient compliance rates. The enzyme L-asparaginase catalyzes the conversion of L-asparagine to L-aspartic acid: key metabolite for tumor cell division, thereby demonstrating anticancer potential. However, the prolonged use of bacterial L-asparaginase may cause allergic reactions and side effects such as diabetes, leukopenia, and co-agglutination disorders. Exploring the anticancer properties of L-asparaginase from different species such as yeast and fungi has been proposed to mitigate these adverse effects.ObjectivesThis study aimed at extracting and optimizing the expression of L-asparaginase from the eukaryotic Cladosporium species, as to assess its anticancer potential against breast and colon cancer cell lines.MethodCladosporium species were identified morphologically and then cultured on modified Czapek-Dox Agar (mCDA) medium supplemented with L-asparagine to induce L-asparaginase production. Submerged fermentation was employed to optimize enzyme production. The enzyme activity was quantified using the Nesslerization method, and its cytotoxicity against colon and breast cancer cell lines was assessed using the (MTT) assay.ResultsAmong the Cladosporium isolates, 18.4% exhibited positive plate assay test, with enzyme activities ranging from 255 to 428 U/mL. Immunoblotting using sodium dodecyl sulfate–polyacrylamide gel electrophoresis (SDS-PAGE) analysis revealed single protein band of approximately 37 kDa, consistent with L-asparaginase activity. Cytotoxicity assay of purified L-asparaginase showed significant antiproliferative effects against breast cancer cell lines MCF-7 and MDA-MB-231, with IC50 values of 36.26 and 45.7 µg/mL, respectively.ConclusionCertain eukaryotic Cladosporium strains are potential sources for the anticancer L-asparaginase production.Graphical Microbial L-asparaginase is one of the most important industrial enzymes of interest accounting for about 40 % of the total worldwide enzyme sales, this enzyme has got much significance in the medical field for the treatment of leukemia especially acute lymphoblastic leukemia (ALL).

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  • Journal IconJournal of the Egyptian National Cancer Institute
  • Publication Date IconMay 3, 2025
  • Author Icon Dina Johar + 5
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Bechet’s Disease in Absence of Oral Aphthosis: Utility of Updated Criteria

Background : Behçet disease (BD) is a chronic, relapsing, systemic vasculitis of unknown etiology with the clinical features of oral and genital ulcers, cutaneous vasculitic lesions, ocular, articular, vascular, gastrointestinal, neurologic, urogenital and cardiac involvement. Mucocutaneous lesions are considered hallmarks of the disease, and often precede other manifestations. Therefore, their recognition may permit earlier diagnosis and treatment with beneficial results for prognosis. Oral aphthosis is the main manifestation of BD and was reported in 97.3% of patients. Objective : In a case study we investigate the prevalence, demographic and clinical parameters of Behçet cases without oral aphthosis, and the interest of the new ICBD criteria. Methodology: In a retrospective study carried out in the internal medicine department of the university hospital Ibn Rochd de casablanca over an 18-year period, involving 563 patients with BD selected according to the new criteria proposed by the ICBD, we study the different characteristics of Behçet cases without oral aphthosis. Results: Among 563 BD patients, 9 patients (1.6%) had no oral aphthosis. The sex ratio was 3.5 men/women. The mean age of onset was 28.3 years. Initial manifestations included genital aphthosis in (77.7%), ocular involvement (11.1%), and vascular involvement (11 .1%). During the course of the disease, 66.6% of patients had pseudofolliculitis lesions, and 22.2% had a positive pathergy test. Joint involvement was present in 1/3 of patients. 6 patients had ocular involvement. Vascular involvement was present in 66.6% of cases. Pleuropulmonary and central neurological parenchymal involvement were observed in only 1 patient. Therapeutic measures included bolus and oral corticosteroids, azathioprine and cyclophosphamide, in addition to colchicine. Progression was good in 66.66% of patients, with therapeutic resistance in 11.1%, and the onset of AA amyloidosis in 1 patient. Conclusion: Bechet's disease is mainly diagnosed on the basis of clinical signs and symptoms, which often leads to delays in diagnosis. Revision of the criteria has improved sensitivity by making oral aphthosis a non-mandatory criterion, enabling diagnosis at an early stage and thus improving prognosis.

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  • Journal IconJournal of Advances in Medical and Pharmaceutical Sciences
  • Publication Date IconMay 3, 2025
  • Author Icon C Sollah + 6
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Gender-affirming chest surgery decisions in response to hypothetical BRCA1/2 genetic testing.

To align their bodies with gender identity, transgender and gender-diverse individuals may elect to undergo gender-affirming chest masculinization or feminization, which is different from the standard mastectomy recommended to those with BRCA1/2 pathogenic variants. This study aimed to determine if genetic testing revealing a pathogenic variant associated with a significantly higher lifetime risk of breast cancer would influence decisions regarding chest surgery type. The investigators hypothesized that BRCA1/2 pathogenic variant carrier status would influence gender-diverse individuals to elect a more invasive surgery to address increased cancer risk. Of 26 transgender and gender-diverse individuals without a history of chest surgery, 23.1% stated they would likely elect a more invasive surgery type based on positive genetic testing results while, of 17 individuals with a previous history of chest reconstruction, 52.9% stated it was unlikely that genetic testing would have altered their surgical decision-making. These results suggest that health care providers should counsel transgender patients about the utility of genetic testing prior to gender-affirming chest reconstruction.

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  • Journal IconJournal of genetic counseling
  • Publication Date IconMay 2, 2025
  • Author Icon Taylor I Gray + 2
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Investigating the epidemiology of hyperketonemia in grazing dairy cows in early lactation: Incidence, prevalence, and time to resolution of hyperketonemia.

Most cows experience a degree of negative energy balance due to an energy deficit during early lactation, which leads to the mobilization of body tissue to support milk production and results in the production of ketone bodies. Elevated ketones have been associated with an increased risk of clinical ketosis and reduced cow performance and health. The objectives of this study were to (1) characterize the incidence and prevalence of hyperketonemia (HYK) and severe HYK (Sev-HYK) in 3 seasonal calving herds of grazing dairy cows in early lactation, and (2) characterize the time to resolution of HYK based on the timing and degree of HYK. Grazing cows from 3 dairy farms were tested 15 times (mean ± SD; 14.9 ± 0.4 tests) for HYK between 1 and 35 DIM using a hand-held meter. Hyperketonemia was defined as blood BHB ≥1.2 to 2.9 mmol/L and Sev-HYK was defined as blood BHB ≥3.0 mmol/L. Associations between time to resolution of HYK and factors influencing this (farm, timing and magnitude of the first positive HYK test) were investigated by survival analysis using Cox regression. A total of 749 (76%) of 980 eligible cows were classified with HYK or Sev-HYK at least once within 35 DIM. Cumulative incidence of HYK was 64% within 14 DIM and varied across farm A (40%), farm B (76%), and farm C (74%). Cumulative incidence of Sev-HYK was 11% within 35 DIM and varied across farm A (12%), farm B (18%), and farm C (6%). Peak incidence of HYK occurred at 3 DIM, when 34% of cows had their first positive HYK test; however, peak HYK incidence and timing of peak incidence varied widely between the 3 herds (20% at 7 DIM on farm A, 38% at 4 DIM on farm B, and 58% at 3 DIM on farm C). Median time from the first positive HYK test (1.2 to 2.9 mmol/L) to a negative test (<1.2 mmol/L) was 3.3 d. In multivariable models, blood BHB concentration (≥1.2 to <2.0 mmol/L vs. 2.0 to 2.9 mmol/L) and timing (≤4 DIM vs. >4 DIM) of the first positive HYK test were associated with the time taken to resolve HYK (blood BHB <1.2 mmol/L) within 35 DIM. Cows with blood BHB 1.2 to <2.0 mmol/L at their first positive HYK test were 43% more likely to resolve HYK than cows that tested 2.0 to 2.9 mmol/L at their first positive test within 35 DIM. Further, cows that first tested positive after 4 DIM were 62% more likely to resolve HYK than cows that first tested positive within the first 4 DIM. Our results indicate substantial variation in the incidence and prevalence of HYK across 3 case study herds in seasonal calving, pasture-based systems. The time of HYK onset relative to calving and BHB concentration at the first HYK-positive test can influence the time taken to resolve HYK.

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  • Journal IconJournal of dairy science
  • Publication Date IconMay 1, 2025
  • Author Icon S.J Hendriks + 7
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