STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by mutations in TMEM173 gene encoding STING (stimulator of interferon genes). It typically presents in infancy and is mainly characterized by interstitial lung disease, skin rash, and systemic inflammation. This report presents the case of adult-onset SAVI:A 28-year-old male patient was admitted with recurrent episode of cough, expectoration, chest tightness with shortness of breath and erythematous rashes on the extremities, chest, and back.His CT revealed bilateral diffuse fine reticular opacities and irregular reticular shadows, with focal areas of honeycombing. Further inquiry into the family history revealed that the patient's mother had been diagnosed with interstitial lung disease (ILD).Thus, a genetic etiology should be highly suspected.Later, whole-exome sequencing identified a heterozygous mutation in the STING1 gene: c.842G>A (p.R281Q), establishing the diagnosis of SAVI. The patient was subsequently referred to a tertiary care hospital for specialized management. During one year of follow-up, the patient underwent lung transplantation in August 2025 and had since received long-term immunosuppressive therapy for rejection prophylaxis. Cough and expectoration improved markedly, although exertional dyspnea persisted; the cutaneous rash had resolved completely.

Leveraging machine learning algorithms and explainable AI for predicting mental health disorder treatment at the workplace.

Abstract Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective DNA repair, leading to extreme sensitivity to ultraviolet radiation and a high risk of cutaneous and ocular malignancies. This case report presents a case of a 14-year-old boy with XP who experienced photophobia along with significant ocular surface squamous neoplasia (OSSN). The patient’s family history indicated hereditary involvement. Ocular examination revealed OSSN, treated with topical 1% 5-fluorouracil (5-FU) four times daily for 1 week, followed by a 3-week drug holiday, repeated for three cycles. Significant improvement was observed in tumor size and ocular symptoms post-treatment. This case report highlights the effectiveness of 5-FU as a noninvasive, cost-effective alternative to other chemotherapeutic agents and surgical excision in managing OSSN in XP patients, emphasizing the importance of tailored treatment strategies and the necessity of long-term monitoring due to the ongoing risk of recurrence and malignancy.

Hailey–Hailey disease (HHD), or benign familial chronic pemphigus, is a rare autosomal-dominant genodermatosis caused by mutations in the ATP2C1 gene, which encodes the calcium/manganese (Ca2+/Mn2+) ATPase hSPCA1 that regulates Ca2+ homeostasis in the Golgi apparatus. Mutations in this gene disrupt desmosome formation and keratinocyte adhesion, leading to epidermal acantholysis and recurrent vesicopustular and erosive lesions in intertriginous areas. HHD follows a chronic relapsing course, with flares triggered by heat, friction, or infections, markedly impairing quality of life. Therapeutic management is challenging, and standardized treatment guidelines are lacking [1]. Emerging evidence suggests a potential role for oral magnesium chloride (MgCl2) in disease control [2]. In this context, we report the case of a 60-year-old man with a 20-year history of recurrent erythematous eruptions on the presternal region and inguinal folds, exacerbated by sweating (Figure 1A). He reported partial and transient responses to topical corticosteroids, antibiotics, and antifungals. He was initially treated as having severe seborrheic dermatitis with systemic antifungal and topical antimicrobial agents, but he developed new fissuring and yellowish serous exudation in the inguinal folds despite reduced erythema. The family history—his son had similar lesions—together with the chronic course and clinical features prompted suspicion of HHD. Punch biopsy showed suprabasal acantholysis with widespread intraepidermal clefting and the characteristic “dilapidated brick wall” pattern. Direct immunofluorescence was negative for IgG, IgA, IgM, and C3, confirming HHD and excluding autoimmune blistering disorders. Because the patient was reluctant to pursue systemic therapy, oral MgCl2 300 mg/day was started. By 4 weeks, the lesions had cleared (Figure 1B), and after 12 months of continuous therapy, he reported only occasional, mild flares controlled with topical steroids. No other systemic treatments were given; serum Mg2+ was not measured, and renal function was normal. To date, four publications with follow-up data report five histologically confirmed HHD patients (three women, two men; mean age 52.6 years) treated with oral MgCl2. In three patients, magnesium chloride hexahydrate (MgCl2·6H2O, 33 g/L solution, 70 mL/day ≈276 mg elemental Mg2+) produced clinical improvement within 1–2 weeks and near-complete remission by 4 weeks; two of these also received topical corticosteroids or clotrimazole–fusidic acid [2, 3]. In two additional cases, adding oral MgCl2 (≈286–300 mg/day) to ongoing naltrexone yielded benefits not achieved with naltrexone alone, including faster response and sustained clearance [4, 5]. In all reported cases, no significant adverse effects were noted aside from the unpleasant taste of the magnesium solution. Numerous topical, systemic, and procedural therapies for HHD have been explored—including corticosteroids, calcineurin inhibitors, antimicrobials, immunosuppressants, retinoids, biologics, Janus kinase (JAK) inhibitors, laser, dermabrasion, botulinum toxin, and phototherapy—but none are curative, and relapses are frequent [1]. HHD arises from ATP2C1 mutations encoding hSPCA1, a Golgi Ca2+/Mn2+-ATPase; its dysfunction lowers Golgi Ca2+ uptake, disrupts junctional protein synthesis and desmosome assembly, and causes keratinocyte detachment and acantholysis. Rather than correcting the genetic defect, MgCl2 may exert beneficial effects by modulating intracellular Ca2+ availability in HHD: in vitro data indicate that MgCl2 reduces cellular Ca2+ efflux without affecting Golgi filling, a finding consistent with inhibition of plasma-membrane Ca2+-ATPases by elevated intracellular Mg2+, thereby increasing intracellular Ca2+ availability to support desmosome formation [2]. Case reports document rapid clinical responses (often within 1–4 weeks), good tolerability aside from the taste, and low cost. MgCl2 appears safe and potentially effective for prolonged use, either as monotherapy or adjunctive therapy, but it is not a proven disease-modifying treatment for HHD, and evidence remains limited to case reports. Caution is advised in patients with renal impairment. Larger studies with defined dosing, therapy duration, and patient selection are needed. MgCl2 may also merit investigation in other acantholytic dermatoses, such as Darier and Grover diseases [4]. The authors have nothing to report. The research conforms to the ethical standards described by the Declaration of Helsinki. Informed consent has been obtained to publish patients' photographs and data. The authors declare no conflicts of interest. The data that support the findings of this study are available upon request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Deliberate self-harm (DSH) is a significant but underreported public health concern in Bangladesh, driven by mental health stigma, cultural and legal barriers, and absence of national data. Despite clear links to multiple risk factors, the prevalence and determinants of DSH lack systematic exploration. This narrative review synthesizes existing research articles and gray literature to summarize DSH behaviors, prevalence, risk factors, and key correlates within the Bangladeshi population. PubMed, EMBASE, Scopus, PsycInfo, Google Scholar, and BanglaJOL were searched from their inception to identify research articles on risk factors and correlates of DSH behaviors. Studies assessing DSH behaviors and reporting associated risk factors in Bangladeshi populations were included for this review. 12 cross-sectional studies (1995-2025) with sample sizes between 51 and 383 were included. Nine studies were hospital based, while three were conducted in community settings among LGBT, homosexual male, and university students. Seven reported DSH behaviors in participants aged 14-65 years, and five assessed co-occurring mental disorders. Reported lifetime DSH prevalence was 17% (95% CI: 12-22.5) among university students, 40.2% in homosexual men, and 56%-62% among homosexual women. The most common methods were self-cutting (39%), medication overdose (38%), and hanging (31%). Overall, 71% had at least one psychiatric disorder. Half of those with planned DSH intended to die, while 12% sought escape. Depressive and anxiety disorders, familial history, medical comorbidities, personality disorder, relationship problems, and poor family interactions were significant risk factors. DSH was positively associated with suicidal attempts, with 34.2% of individuals with DSH reporting a lifetime suicide attempt. The review outlined limited studies on DSH among the Bangladeshi population. This gap warrants further large-scale studies to find the temporal relation between DSH and its correlates among the community population in Bangladesh.

To review current literature about retrograde cricopharyngeus dysfunction (R-CPD) etiology, pathophysiology, clinical presentation and management. R-CPD is a clinical condition characterized by inability to burp that is often associated with a variety of other gastrointestinal symptoms. Limited data suggest that R-CPD may affect up to 22% of the general population, with 13% experiencing severely troublesome symptoms. Symptoms usually begin in childhood, though diagnosis typically occurs many years later after prolonged symptom burden. Gastroesophageal reflux disease (GERD) and laryngopharyngeal reflux disease (LPRD) are strongly associated with R-CPD, with prevalence rates ranging from 28 to 58% across studies, suggesting either that GERD and LPRD contribute to the development of R-CPD or vice versa , with R-CPD producing prolonged elevations in esophageal pressure and esophageal stretching that contribute to the development of GERD and LPRD. Family history is present in 28% of cases, suggesting possible genetic predisposition. Botulinum toxin injection (BTI) into the cricopharyngeal sphincter represents the primary therapeutic option, achieving up to 92.5% overall initial success rate using various approaches, including in-office transcervical (EMG-guided), transnasal, and operating room esophagoscopy techniques. Younger age, higher botulinum toxin doses, and operative esophagoscopy under general anesthesia have been associated with better treatment outcomes. Symptom recurrence occurs in 4-45% of patients, with mean recurrence intervals between 6 and 8 months. R-CPD represents an underrecognized but potentially common condition with significant impact on quality-of-life. BTI demonstrates high efficacy with an acceptable safety profile. Standardized diagnostic criteria, treatment protocols, and comprehensive pediatric studies for R-CPD remain sorely needed.

Virtual panel analysis (VPA) of exome data is a common approach for the molecular diagnosis of congenital heart disease (CHD). However, differences in gene panel composition and patient inclusion criteria limit the evaluation of its diagnostic utility. This study aims to assess the diagnostic yield of VPA in a cohort of patients with CHD across 3 academic centers. We collected clinical data including phenotypic features and family history, from 853 probands with CHD who underwent VPA analysis at the Center for Medical Genetics Ghent (525 probands; 471 genes), the University Medical Center Groningen (195 probands; 345 genes), and the University Medical Center Utrecht (133 probands; 55 genes). We evaluated the diagnostic yield by comparing the 3 centers with respect to panel composition and clinical presentation. The Center for Medical Genetics Ghent reported a higher diagnostic yield (9.9%) compared with the University Medical Center Groningen (7.2%) and the University Medical Center Utrecht (5.3%). In all centers, the diagnostic yield was higher in patients presenting with a syndromic constellation and did not differ significantly between the sporadic and familial cases. In 1.7% of the 536 nonsyndromic probands, a molecular cause was identified that typically is associated with syndromic CHD. Twelve genes showed likely pathogenic or pathogenic variants in multiple patients and contributed to 56.2% of the identified causes. We report an overall diagnostic yield of VPA for CHD of 8.6%, to which only a few genes contribute significantly, highlighting the complex origin of CHD. Since panel size, gene panel content, and local practices largely affect the diagnostic yield, we propose a (minimum) core gene panel for suspected isolated CHD, as well as a coordinated testing strategy for CHD to improve diagnosis and counseling and to catalyze collaborative efforts.

Repeat expansion disorders are caused by unstable DNA sequences that exceed pathogenic thresholds, disrupting normal gene function. These conditions often affect the nervous system, but may involve multiple organs, with presentations ranging from subtle cognitive or motor changes to overt neuromuscular or neurodevelopmental syndromes. Early symptoms can mimic common conditions, making clinical suspicion, family history, and awareness of intergenerational patterns essential. Molecular features, including repeat size, sequence, location and stability, determine disease severity and variability. Nurse practitioners are well positioned to recognize early signs, make early referrals to genetics, and support families with education, anticipatory guidance, and coordination of follow-up care. Case examples include Huntington disease, fragile X syndrome, and myotonic dystrophy and illustrate clinical heterogeneity, premutation effects, and genetic anticipation. Early recognition and referral remain crucial, particularly as emerging gene-targeted therapies may offer potential disease-modifying options.

Hereditary spherocytosis (HS) is a genetically and clinically diverse red cell membrane disorder, with limited clinical and molecular data on pediatric patients from India. This ambispective study, conducted at a North Indian tertiary center over a period of 6 years, evaluated HS patients for clinical, laboratory, genetic, and treatment outcomes. Forty-seven patients (33 males, 14 females; mean age 12.1±8.7 yrs) were analyzed. Family history was contributory in 40.4%. Around 72.3% patients required at least one PRBC transfusion by the time of analysis, while 9 were transfusion dependent. Hemolytic facies and growth retardation were seen in 25.6% and 30.7%, while gallstones were found in 42.5%. MCHC was 32.2±1.92% and was not found to be a useful screening test. Incubated osmotic fragility testing (iOFT) was positive in 36 cases (sensitivity 76.6%), while eosin-5-maleimide (EMA) binding by flow cytometry was positive in 41 cases (sensitivity 87.2%), detecting all cases missed or equivocal on iOFT and demonstrating superior diagnostic yield. The remaining 6 cases were confirmed by genetic testing, which served as the definitive diagnostic modality. Among 34 patients tested genetically, mutations were found in ANK1 (n=14), SPTB (n=12), SLC4A1 (n=3), EPB42 (n=4), and SPTA1 (n=1). Beyond classic HS mutations, additional findings included PKLR mutations (n=2), hereditary elliptocytosis (n=2), dehydrated stomatocytosis (n=2), and Gilbert syndrome (n=4) with cholelithiasis. Genetic testing refined diagnoses, reclassifying one Congenital Dyserythropoietic Anemia (CDA) case as HS and 4 HS cases as alternative etiologies. This study underscores the clinical and genetic heterogeneity of Indian HS, demonstrating the value of combining the EMA dye test with genetic sequencing. The disease impacted facial features and growth, while splenectomy showed good outcomes in severe cases.

351 Background: Cancer survivors receiving treatment or on follow-up face substantial burden of managing their symptoms. Many cancer survivors experience fatigue, pain, nausea/vomit and other symptoms of mild to moderate grade for which they visit hospitals. This increased burden already overburden healthcare facilities. We developed a Symptom Management Toolkit (SMT) to be used by cancer survivors or caregivers to manage symptoms by themselves. This study evaluates the validity and feasibility of SMT among survivors of solid carcinoma. Methods: a validation study was conducted among cancer survivors with diagnosis of solid malignancy who were currently receiving treatment or are on follow up. Participants aged 18-65 years with Eastern Cooperative Oncology Group (ECOG) Performance Score of 2 or less were included in the study. The socio-demographic data was collected through a structured questionnaire which include education, residence, work, medical, family history, smoking, and alcohol history was taken. A 13 symptoms-based SMT was provided to manage the symptoms at home. The symptoms were graded and their management instructions were provided. The content validity was assessed through review by expert. The construct validity was evaluated through group comparison and symptoms correlations. Results: A total of 65 participants were included in this study with 58.5% females and 41.5% being male. 43.1% of participants reported history of tobacco use while alcohol intake was reported in only 29.2% participants. 27.7% patients have hypertension, 23.1% diabetes mellitus as comorbidity. 10.8% participants reported family history of cancer. The study inculded 27.7% breast cancer, 18.5% oral cancer, 16.9% gynaecological cancer, 10.8% lung cancer and 26.2% other solid cancer cases. 63.1% survivors were receiving chemotherapy including targeted therapy, 18.5% chemoradiotherapy, 10.8% radiation therapy and 7.7% was on follow-up. The most common symptoms reported were fatigue (63.1%), pain (56.9%), nausea or vomiting (44.6%), and dry mouth (40%). The content validity shows strong expert agreement with calculation of content validity indices (item-level CVI 0.85–1.00; scale-level CVI 0.92). The criterion validity showed agreement between SMT-based patient self-grading and clinician assessment (κ = 0.70). the feasibility of SMT was high among survivors. Around 86.2% of survivors and their caregivers were able to understand easily the instruction provided. The adherence to the SMT was also higher (73.4%). 64.6% of survivors reported improved symptom management through use of SMT. There were 13.8% decrease in hospital visit after SMT use (24/65 vs 15/65 visit before and during SMT use). Conclusions: The feasibility and high acceptability of SMT can improve symptom management and reduce hospital visits. The SMT can be used as self-management tool to reduce the unscheduled visits to the hospitals.

Music is the combination of harmony of melody and rhythm. Music listening have been associated with decrease of physiological arousal, heart rate, blood pressure and reduction of cortisol levels. Pharmacological and non-pharmacological measures have been advocated to minimize the development of stress related diseases. Relaxation techniques and listening to music can prevent cardiovascular complications. Music can affect central and autonomic nervous system as well as endocrine system. This experimental study was conducted in the Department of Physiology, Chittagong Medical College, Chattagram, Bangladesh from January 2020 to December 2021. Total 60 subjects of first year MBBS, with equal number of male and female, studying in Chittagong Medical College, Chattagram, were included by stratified random sampling method according to inclusion and exclusion criteria. A questionnaire along with general information about previous diseases, medical and family history were filled up by the subjects. Stress biomarkers- systolic and diastolic blood pressure, perceived stress scale (PSS) score and serum cortisol were recorded before and after 15 minutes of music intervention for 15 days. Result was compiled and compared after data collection by using SPSS 25.0. Paired 't' tests were done to compare differences between pre and post-intervention values of different outcome parameters. P value <0.05 was considered as statistically significant. Stress biomarkers- systolic and diastolic blood pressure, perceived stress scale (PSS) score and serum cortisol were significantly reduced after 15 days music intervention. This study concludes that regular listening to slow music causes significant reduction of stress and improvement of cardiorespiratory endurance and quality of life.

Understanding factors impacting quality of life in patients with keratinocyte carcinoma: A cross-sectional analysis of Mohs surgery patients.

We investigated islet autoimmunity (IA) incidence trends among Colorado children born 1993-2010 in Diabetes Autoimmunity Study in the Young (DAISY) and The Environmental Determinants of Diabetes in the Young (TEDDY) and whether HLA genotype or early-life environmental exposures contributed to observed increases. We analyzed the risk of IA among 2,734 Colorado children representing three birth cohorts (BCs): BC1 (1993-1998), BC2 (1999-August 2004), and BC3 (September 2004-2010). Cox models evaluated IA by BC, with time-varying coefficients, BC-HLA interaction, and stratification by type 1 diabetes family history. Mediation analyses examined age at gluten introduction, weight-for-age Z-score, and maternal smoking. IA increased across BC1-BC3 (7.0%, 10.7%, and 12.7%). At age 1, moderate-risk HLA participants in BC2 and BC3 had, respectively, 2.57 and 6.19 times the IA risk of BC1. By age 5, effects attenuated. No selected environmental exposures mediated the increased incidence. IA increased among Colorado children born 1993-2010, with the strongest effects among moderate-risk HLA genotypes in later BCs.

Heterogeneity in perinatal depression and its related factors: a longitudinal study in Beijing, China.

Ketamine and esketamine have emerged as effective and rapid-acting interventions for treatment-resistant depression. Nevertheless, the best-suited candidates for these treatments are not clear. As such, the ability to personalize treatment selection and parameters would likely improve therapeutic response. This systematic review synthesized the literature on clinical and demographic predictors of antidepressant response to ketamine and esketamine, including both unipolar and bipolar treatment-resistant depression. We searched the databases of PubMed, Embase, Scopus, and APA PsychINFO on 25 March, 2025, with an update on 19 November, 2025, to identify studies on the clinical and demographic predictors of ketamine or esketamine effectsin treatment-resistant depression. There were no restrictions on study design. Studies in a language other than English were excluded. Two authors, OAS and VS, independently reviewed studies and resolved conflicted judgments through a discussion. Risk of bias was assessed using the Cochrane RoB 2 for randomized studies and ROBINS-I for non-randomized studies. For each included study, the direction of effect (positive, negative, no association) for predictor variables was extracted. A total of 122 studies (n = 12,674) were included in the review, with 75 distinct samples (n = 6902), published between August 2006 and September 2025. There were 65 studies providing open-label ketamine, 47 secondary analyses of a trial, and 10 randomized controlled trials included. Studies most commonly treated both treatment-resistant unipolar and bipolar depression (k = 62) and solely administered intravenous ketamine at a fixed dosage of 0.5 mg/kg (k = 61). We examined the predictive value of 77 predictor variables, including body mass index, dissociation, and previous neuromodulation treatments. Most variables had more reports revealing no association with antidepressant outcomes than a positive or negative predictive ability.Some promising predictive factors, such as early response to treatment and a family history of substance use disorders, were identified and warrant further exploration. In a comprehensive synthesis of predictor analyses for ketamine and esketamine treatments, most demographic and clinical variables did not confer differential outcomes to ketamine and esketamine treatments, although some promising predictive variables were identified for further investigation. PROSPERO (CRD42024554316).

Breast cancer screening is vital for early detection and improved health outcomes but requires robust health economic evaluations to guide implementation. This systematic review examines the methodology, quality, and results of health economic evaluations of screening strategies to support decision making and future research. A literature search was performed in PubMed, Embase, Web of Science, EconLit, and the HTA database. Health economic evaluations of breast cancer screening strategies using imaging modalities were included and screened independently by two reviewers. Data on study design, screening strategies, and outcomes were extracted and synthesized. Quality was assessed using the ISPOR checklist for model-based studies and the Consensus on Health Economics criteria (CHEC-extended) checklist for empirical data-based studies. All results were made publicly accessible via an interactive platform and the Open Science Framework, providing an open resource that facilitates transparency, reuse, and future updates. The review included 128 studies, comprising 96 model-based studies, 14 empirical data-based studies, 15 studies combining empirical data with extrapolation using a modeling approach, and 3 studies with unclear methods. Microsimulation and cohort simulation were used in 47 and 53 studies, respectively. Incremental cost-effectiveness ratios varied widely across studies depending on the screening modality, risk factors, age range of screening, and screening interval. Most studies found mammography to be cost effective compared with no screening, while some studies showed it as being not cost effective, especially for women at average risk of breast cancer, in young screening ages (40-49years), or with an annual interval. Ultrasound-based screening programs were generally cost effective compared with no screening in the women with average risk of breast cancer. Supplementing magnetic resonance imaging (MRI) with mammography was generally cost effective in women with dense breasts and a family history of breast or ovarian cancer but not cost effective in women with previous treatment using radiation therapy. The median quality score was 55% for model-based studies, with microsimulations having higher quality than cohort simulations. Empirical data-based studies with and without extrapolation had a similar median quality score of 65%. Mammography was generally reported as cost effective compared with no screening. Supplementing mammography with ultrasound and/or MRI could be cost effective depending on comparator, risk factors, age range, and screening interval. Suboptimal quality was commonly observed across published health economic evaluations. Future studies should prioritize enhancing overall quality, particularly in data, validation, and reporting.

ObjectiveTo describe a case of probable autoimmune encephalitis initially misdiagnosed as a primary psychiatric disorder.MethodReview and description of probable autoimmune encephalitis presenting with catatonia in a young woman 6 months post-partum.ResultsA young woman was initially admitted to an outside hospital and was diagnosed with a primary psychiatric condition. She was referred for psychiatric inpatient care, but was denied admission due to labile hypertension. After admission to the medical service (and ICU), she responded to a lorazepam challenge, and made a complete recovery after several weeks of combined treatment with IV methylprednisolone, IV immunoglobulin (IVIG), and rituximab, and was discharged with a diagnosis of autoimmune encephalitis.ConclusionAutoimmune encephalitis should be suspected in patients presenting with labile vital signs, family history of autoimmunity, and new psychosis without a prior history of psychiatric problems. Other important diagnostic considerations include neuroleptic malignant syndrome, substance-induced psychosis, or catatonia secondary to post-infectious immune-mediated encephalitis. While a first psychotic break should always be considered, the presence of autonomic instability, catatonia, seizures, or dyskinesias in a young woman postpartum should prompt a thorough medical and neurological work-up.

Preoperative Fear of Anticipated Postoperative Pain in Colorectal Surgery Patients: A Cross-sectional Analysis of Risk Factors.

Clinical and molecular characterization of Hb Coimbra [HBB: c.300T>A p.(Asp100Glu)] in a three-generation Italian family: From diagnostic pitfalls to vascular risk.

The role of germline mutations in non-small cell lung cancer: A systematic review of emerging genetic drivers and clinical implications.