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Parents' Awareness of Their Adolescents' Sexual Behaviors and Experiences: A Concordance Analysis.

PURPOSE: Adolescence is a developmental period during which sexual exploration is normative. Parental awareness of adolescents' sexual behaviors can be protective during this stage; however, research suggests both parents and adolescents tend to avoid open conversations about these sensitive issues. This study aimed to examine concordance between parent proxy-reports and adolescent self-reports across three domains of adolescents' sexual behaviors and experiences. METHODS: Data were collected from a national sample of 522 parent-adolescent dyads (aged 15-17 years) from the AmeriSpeak panel (data collected May-September 2022). Prevalence-adjusted bias-adjusted kappa (PABAK) statistics were calculated to evaluate agreement. RESULTS: Findings revealed weak-to-moderate concordance regarding adolescents sending and receiving sexual photos (PABAKs = 0.54-0.79), whereas stronger concordance was observed for experiences related to nonconsensual sharing of sexual photos (PABAKs = 0.92-0.94), with high agreement largely driven by low reported prevalence of these experiences. Strong concordance regarding whether adolescents had ever had sex (PABAK = 0.80) was largely driven by both parents and adolescents reporting the adolescent had not had sex. Concordance regarding sexually transmitted infection and pregnancy prevention methods varied, ranging from weak to strong agreement across specific methods (or lack thereof; PABAKs = -0.07-0.79). DISCUSSION: Results highlight significant discrepancies in parents' knowledge about their adolescents' sexual behaviors and experiences. Interventions aimed at enhancing trust and open dialogue between parents and adolescents about sexuality-related topics, as well as ensuring adolescents have a variety of trusted sources to consult for sexual information, can help adolescents make informed sexual health decisions.

Humans

"It was good because they have a relationship with us": A qualitative study on low-threshold buprenorphine treatment at syringe services programs.

INTRODUCTION: Syringe service programs (SSPs) reach people who inject drugs with opioid use disorder (OUD) and are novel "low-threshold" venues to initiate buprenorphine treatment. The study investigated patients' experiences with SSP-initiated buprenorphine treatment, which could aid in improving buprenorphine treatment delivery at SSPs. METHODS: The study included 12 participants who completed qualitative exit interviews after a randomized controlled trial of buprenorphine treatment at SSPs. In the parent study, participants received buprenorphine treatment through an onsite model at an SSP or enhanced referral to a community health center based on the randomization sequence. Most participants started taking buprenorphine at home. Exit interviews included participants from both study arms, and the semi-structured interview guide focused on their experiences with clinicians, experiences initiating buprenorphine, prior experiences with OUD treatment, and perceptions about continuing buprenorphine treatment. Four researchers iteratively read, coded, and discussed each transcript, then they derived recurring themes using thematic analysis. RESULTS: Participants were mostly male, middle-aged, and 50% identified as Latino. Four main themes related to buprenorphine treatment initiation: 1) Onsite treatment facilitated buprenorphine prescription, but some participants also expressed a need for additional support; 2) Precipitated withdrawal complicated participants' buprenorphine initiation in both arms; 3) Participants largely experienced the SSPs as affirming and welcoming; and 4) Developing strong relationships with healthcare providers was critical to successful buprenorphine treatment initiation. CONCLUSIONS: The SSP-based model provided rapid access to buprenorphine prescriptions, but precipitated withdrawal was a common complication. Some participants desired additional support and guidance when they started taking buprenorphine at home. The findings point to a "low-threshold, high-touch" approach where participants receive expedited access to buprenorphine providers at SSPs but also additional support throughout the initiation process to avoid and/or manage precipitated withdrawal. Despite some challenges, SSP-based buprenorphine treatment was highly valued by study participants.

Humans

Risk factors and management strategies for needle disengagement from the visual field in pediatric robot-assisted laparoscopic pyeloplasty.

OBJECTIVE: This study aimed to identify risk factors for suture needle disengagement from the visual field during pediatric robot-assisted laparoscopic pyeloplasty (RALP) and propose effective strategies for prevention and management. METHODS: A retrospective cohort study analyzed clinical data from 339 pediatric patients who underwent RALP for ureteropelvic junction obstruction (UPJO) at a single institution between August 2017 and December 2020. Patients were categorized based on the occurrence of needle disengagement from the visual field. Various patient demographics and surgical procedural factors were evaluated. Univariate and multivariate logistic regression, along with LASSO regression, identified independent risk and protective factors. RESULTS: Needle disengagement occurred in 38 (11.21%) of 339 cases. Multivariate logistic regression identified five independent risk factors for needle disengagement: use of a 3-mm auxiliary trocar (OR = 4.69, 95% CI: 1.98-12.53, P < 0.001), non-standard needle holder use (OR = 2.32, 95% CI: 1.04-5.18, P = 0.038), unshaped suture needles (OR = 3.16, 95% CI: 1.44-7.19, P = 0.005), simultaneous use of &#x2265;2 intra-abdominal sutures (OR = 2.46, 95% CI: 1.15-5.48, P = 0.023), and clamping the needle shank during withdrawal (OR = 3.42, 95% CI: 1.40-8.21, P = 0.006). Conversely, sufficient assistant experience (>10 cases) was identified as a protective factor (OR = 0.39, 95% CI: 0.18-0.88, P = 0.021). CONCLUSION: Suture needle disengagement from the visual field during pediatric RALP is associated with specific technical and instrumental factors. Implementing targeted strategies-such as mandating specialized needle holders, preoperative needle shaping, a single-needle workflow, prioritizing clamping the suture thread over the needle shank during withdrawal, and ensuring adequate assistant training-has the potential to significantly reduce significantly mitigate the risk of needle loss and enhance overall surgical safety in pediatric RALP.

Humans

Feasibility and acceptability of skills training in affective recovery (STAR) video and TextSTAR text message program for recent sexual assault survivors.

Background: Sexual assault (SA) affects more than 50% of women in the United States and is associated with elevated risk for impairing posttraumatic stress symptoms and substance, particularly opioid, misuse. Intervening following SA exposure could attenuate these risks.Objective: This study examined the acceptability and feasibility of a 17-minute video, Skills Training in Affective Recovery (STAR) and a 21-day text message program (TextSTAR), that were delivered in the acute post-SA period to prevent the onset or escalation of posttraumatic stress symptoms and substance misuse. The interventions provide psychoeducation about trauma, strategies to reduce fear and avoidance, suggestions to increase social support, and coping strategies for substance use.Method: Participants were 50 women age 18 or older who presented for a Sexual Assault Medical Forensic Exam (SAMFE) within seven days of a SA. Using a Sequential Multiple Assignment Randomized Controlled Trial (SMART) design, participants were randomized to receive the STAR video (n&#x2009;=&#x2009;25) or no video (n&#x2009;=&#x2009;25) at the SAMFE. Those who received the video answered questions about video acceptability immediately after viewing the video. At 1-week post-SAMFE, participants completed online questionnaires about substance use and posttraumatic stress; those above threshold on acute stress or opioid use (n&#x2009;=&#x2009;36) were randomized to TextSTAR (n&#x2009;=&#x2009;18) or no-text program (n&#x2009;=&#x2009;18). Participants completed weekly online surveys 2-4 weeks post-SAMFE about symptoms and text program acceptability.Results: Participants found STAR and TextSTAR at least moderately acceptable; 80% who received STAR found it extremely acceptable while 60-90% (depending on timepoint) who received TextSTAR found it at least moderately acceptable. Our ability to enroll 50 participants and retain 94% at 1 week and 90% at 4 weeks suggests the intervention trial is feasible.Conclusions: STAR and TextSTAR are acceptable and feasible brief interventions for recent sexual assault survivors.Trial registration: ClinicalTrials.gov identifier: NCT06456190.

Humans

Smartphone Apps for Preventing Adolescent Health Problems Among Health Care Professionals: Systematic Search and Quality Assessment.

BACKGROUND: Health care professionals must consider multiple dimensions of prevention when consulting with adolescents. Identifying risky behaviors early in adolescence is crucial for reducing both morbidity and mortality. General practitioners are increasingly eager to incorporate digital tools for prevention into their consultations with adolescents; however, the relevance and clinical validity of these digital tools are not always established or well-known. Consequently, primary care professionals require guidance and support in selecting relevant mobile health (mHealth) tools. OBJECTIVE: The aim of this study is to identify relevant and useful digital apps to help primary care professionals detect at-risk adolescents across all recommended areas of prevention: orthopedics, mental health, substance abuse, risk behaviors, sexual health, vaccinations, social relationships, and nutrition. METHODS: A systematic review of smartphone apps, with an analysis of content quality, was carried out by 4 researchers using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) checklist. The App Store and Google Play Store platforms were surveyed. The inclusion criteria were as follows: free of charge, date of last update, availability in French or English, relevance of the preventive approach to adolescents, and scientific validation. Four health care professionals assessed the apps: 2 selected the apps relevant to health care professionals, then 3 analyzed these apps using the French version of the Mobile App Rating Scale (MARS-F). Intraclass correlation coefficient, model (2,1) (2-way random effects, absolute agreement, single measures); standard error of measurement; and mean absolute error were also calculated. RESULTS: A total of 976 apps were identified, 49 of which had disappeared from the platforms prior to analysis. Nine apps were retained. Seven (0.72%) were included after evaluation using the MARS-F: 2 on mental health and 5 on sexual health (including 3 on contraception only). The mean MARS-F interrater score ranged from 2.5/5 to 3.8/5. The global MARS-F score demonstrated a pooled SD of 0.60 and an intraclass correlation coefficient (2,1) of 0.0003, resulting in a calculated standard error of measurement of 0.60. The average discrepancy between raters was a mean absolute error of 0.53. CONCLUSIONS: No similar studies have been identified in the literature that specifically focus on mobile apps designed to support health care professionals in delivering preventive care to adolescents. Of the 8 areas of prevention identified as relevant for adolescents, only 3 are addressed by the apps validated through our methodology (5 focus on sexual health). Consequently, current apps are insufficient to support health care professionals in their overall preventive work with adolescents. Such a review should be conducted systematically prior to the development of any new tool to prevent duplication and channel creative efforts toward truly innovative digital solutions. Furthermore, a thorough analysis of relevant, recommended websites is essential, as these resources complement the use of mobile apps designed for health care professionals.

Humans

A prospective crossover study comparing ICCS-recommended and Palmer-adjusted filling rates in children with spina bifida.

OBJECTIVE: This study aimed to investigate whether the maximal cystometric capacity (MCC) in children with spina bifida (SB) is indeed lower, as predicted by the Palmer formula, and to evaluate the impact of different bladder filling rates on urodynamic parameters. MATERIALS AND METHODS: This prospective, randomized, two-sequence crossover-controlled study included 70 children aged 3-18 years with spina bifida under regular follow-up. In Group 1, the first two bladder fillings were performed at the ICCS-recommended rate, and the third at 75% of that rate (Palmer formula). In Group 2, the sequence was reversed. Urodynamic parameters, including maximal cystometric capacity (MCC), bladder compliance, detrusor activity, filling pressures, and detrusor leak point pressure (DLPP), were analyzed across fillings. RESULTS: Cystometric bladder capacity was lower during fillings performed at the Palmer-adjusted rate compared with those at the ICCS-recommended rate. The proportion of reduced compliance significantly decreased in Group 1 (p = 0.046) but remained unchanged in Group 2. A significant positive correlation was observed between expected bladder capacity (EBC) and measured MCC in both groups (&#x3c1; &#x2248; 0.5-0.6). The highest correlation and agreement were found in Group 1 during the third filling at the Palmer rate (ICC = 0.606). No significant intra- or intergroup differences were observed in detrusor pressure, end-filling pressure, DLPP, or overactive bladder prevalence. CONCLUSION: Bladder filling rate was associated with differences in both cystometric capacity and bladder compliance in children with spina bifida. Fillings performed according to the Palmer formula (approximately 75% of the ICCS-recommended rate) were associated with capacities that more closely approximated age-expected values and with modest differences in bladder compliance. Conversely, faster filling rates did not produce similar benefits. These findings suggest that slower filling strategies may improve measurement consistency and agreement with expected bladder capacity estimates. However, the magnitude and direct clinical impact of these differences should be interpreted cautiously, particularly in light of the potential influence of sequence-related effects.

Humans

Effectiveness of STK Spray&#xae; for semen stain localization on solid surfaces: A specificity and sensitivity study.

Semen identification is a crucial step in sexual assault cases. The aim of this study was to assess STK Spray&#xae;, a presumptive test for semen, under controlled conditions including, simulated crime scene stains detection. Easy to use, it can be sprayed directly onto different surfaces and visualized under UV light. Several tests were performed on five different substrates (ceramic tile, drywall, metal, wood, and faux leather). The spray was able to enhance semen fluorescence, especially in diluted samples, with characteristic "globular" spots. Although it showed good specificity, false positives could be obtained with 10% bleach. The fluorescence signals were quantified using ImageJ&#x2122; and showed a statistically significant substrate-dependent variability. Mixture analysis indicated that saliva did not interfere with detection of semen, while urine partially suppressed the signal and blood markedly affected its interpretation. Simulation tests with UV lamp comparisons confirmed the importance of choosing the right detection method and the utility of this presumptive test in combination with additional immunochromatographic tests. A preliminary signal retention test showed stable fluorescence for up to two years when stains were stored appropriately. Finally, complete DNA profiles (100% of alleles) were obtained from all samples (n&#xa0;=&#xa0;24) after exposure to the reagent and UV light. Because of its ability to enhance semen signal, especially on specific surfaces, and its rapidity of use and detection, STK Spray&#xae; may represent a useful aid in the preliminary screening phase.

Humans

Female genital mutilation knowledge, attitudes and training needs among health professionals in non-practicing countries: A literature review.

BACKGROUND: With increasing globalization and migration, the number of women affected by female genital mutilation who reside in countries where the practice is not traditionally performed is constantly increasing. Healthcare providers in these settings are required to address the complex health needs of this vulnerable population. We aimed to synthesize recent literature on their knowledge, preparedness, and educational background. METHODS: We conducted a systematic review across PubMed, Scopus and Embase, identifying papers published from January 2015 onwards, examining providers' knowledge, education and attitudes toward female genital mutilation in non-practicing countries. Both quantitative and qualitative observational studies were eligible. Given heterogeneity in study populations, outcome definitions, and assessment tools, findings were synthesized narratively. The review protocol was registered with the International Prospective Register of Systematic Reviews (CRD420251044761). FINDINGS: 1046 records were screened by title and abstract, and 140 full-text articles were assessed for eligibility. 31 studies met the inclusion criteria (23 quantitative, 8 qualitative). Many providers reported clinical experience with women affected by female genital mutilation, yet substantial variability was observed in knowledge, training, and attitudes. Gaps were particularly evident regarding legislation, World Health Organization classification, clinical guidelines, referral pathways, workplace protocols. Midwives and younger professionals tended to demonstrate higher knowledge levels. Training exposure ranged from 5% to 91%, and many participants perceived it as insufficient. Qualitative findings echoed these patterns, highlighting challenges in female genital mutilation classification, legal awareness, documentation systems, the impact of providers' cultural beliefs on care delivery. CONCLUSION: Considerable efforts are needed to equip healthcare providers to deliver high-quality, culturally competent care to women affected by female genital mutilation. Research should develop validated tools to assess preparedness, adopt mixed-methods strategies to capture patient and provider perspectives, and guide standardized, up-to-date training programs, strengthening knowledge in managing female genital mutilation.

Humans

Are Adverse Childhood Experiences Associated with Metabolic Syndrome in Patients with Severe Mental Illness?

BACKGROUND: Patients with severe mental disorders (SMD) are at substantially elevated risk for metabolic syndrome (MetS), contributing to excess cardiovascular morbidity and premature mortality. Adverse childhood experiences (ACEs) have been associated with dysregulation of metabolic pathways, yet their contribution to MetS risk in SMD remains poorly understood. OBJECTIVE: This study aimed to investigate the association between ACEs and MetS in outpatients with bipolar disorder (BD) and schizophrenia (SZ) in clinical remission and to identify independent and incremental predictors of MetS using a hierarchical analytical framework. METHODS: This cross-sectional study included 140 outpatients with SMD (96 with BD and 44 with SZ) in clinical remission, recruited from a university hospital in Eastern Turkey. MetS was defined according to NCEP-ATP III criteria, and ACEs were assessed using the Turkish version of the Adverse Childhood Experiences Scale (ACE-TR). Hierarchical and multivariable logistic regression analyses were performed to examine factors associated with MetS. RESULTS: MetS was highly prevalent in this sample (46.4%). ACE-TR total score was independently and consistently associated with MetS across all hierarchical models (odds ratio [OR] range: 1.68-1.77), with each one-unit increase conferring approximately 71% higher odds in the fully adjusted model (OR = 1.71; 95% confidence interval [CI] 1.26-2.32; P = 0.001). The number of hospitalizations was the only other independently associated variable (OR = 1.19; 95% CI 1.02-1.39). Sexual abuse (16.9% vs. 2.7%; P = 0.004), emotional neglect (63.1% vs. 30.7%; P < 0.001), and physical neglect (30.8% vs. 14.7%; P = 0.022) were significantly more prevalent in the MetS group. ACE-TR total score was positively correlated with waist circumference and triglyceride levels. CONCLUSION: The strong and consistent association between ACEs and MetS underscores the importance of trauma-informed care models in psychiatric practice, where metabolic comorbidity remains a leading cause of premature mortality.

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Longitudinal associations between family factors and the neurodevelopmental and psychosocial outcomes of children with congenital heart disease: A systematic review.

Family factors have been gaining increased attention in understanding adverse neurodevelopmental and psychosocial outcomes for children with congenital heart disease (CHD). To clarify relevance, we undertook a systematic review of only longitudinal studies which assessed such associations. Comparisons with the contribution of disease/surgical factors were also made where included studies considered such. We included longitudinal studies which assessed dynamic family factors (e.g. parent mental health, attachment, family functioning) and later child outcomes. Searches were conducted across CINAHL, Medline-Pubmed, PsychInfo and SCOPUS Web of Science. The NIH Quality Assessment Tool was used to evaluate study quality and risk of bias. Eighteen studies, utilizing data from 11 study samples and 2109 participants, met inclusion criteria. These studies included samples from infancy, with follow-up periods stretching into young adulthood, and with various degrees of CHD severity. The quality of studies was "good" to "fair", with key limitations of attrition and limited sociocultural diversity in samples. Findings suggested that family factors predicted later child psychosocial outcomes and more consistently than severity of disease indicators. This contrasted with a much smaller number of studies examining family factors and child neurodevelopmental outcomes, where no reliable conclusions could be reached. Findings highlight the importance of screening and family focused interventions for this population.

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List randomization for prevalence estimation of sensitive behavioral data among women with HIV of reproductive age in Lilongwe, Malawi.

Self-reported data are subject to reporting biases, including social desirability bias. List randomization is one method that can help mitigate the impact of such biases. Here, we examined the utility of list randomization among women of reproductive age living with HIV in sub-Saharan Africa. In the Family Planning and Antiretroviral Therapy study, participants were randomized to answer 5 blocks of true/false statements via either direct or list response. Each block contained 3 nonsensitive statements and 1 sensitive statement related to either condom use or HIV disclosure. For each sensitive statement, we calculated the prevalence difference (PD) comparing list response to direct response overall and stratified by socioeconomic status. The PD for 4 of the sensitive statements was negligible. However, we found that self-report of always using a condom was reported by 53.1% at list response visits vs 34.7% at direct response visits (PD, 18.5%; 95% CI, 6.2%-30.7%), a difference that was attenuated among those with higher socioeconomic status. In this setting, list randomization did not meaningfully change the estimated prevalence for most questions, except for one question, which unexpectedly produced a higher estimate for a positive behavior. Examining this method in other settings and populations is warranted.

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The wider erection angle in hypospadias: A neglected feature affecting surgical outcomes.

INTRODUCTION: Penile curvature often accompanies hypospadias, and numerous techniques have been described for its correction; however, in some cases, an abnormal erection angle may also be present, further exacerbating the perception of curvature. OBJECTIVE: This study investigates the significance of the erection angle in hypospadias cases and its correlation with the severity of the anomaly. STUDY DESIGN: A retrospective analysis of intraoperative photographs of hypospadias cases operated between 2019 and 2023 was performed. Erection angle was measured with a digital goniometer during a full artificial erection. Erection angles in proximal and distal hypospadias cases were analyzed and compared to data from Kinsey's subgroups representing healthy male erection angles. RESULTS: This study involved images of 68 patients, with 31 having proximal and 37 distal hypospadias. The median age of the whole group was 11 months (6-156, IQR 9). Median erection angle was 91 (63-119, IQR 11) for distal cases, whereas it was 96 (75-138, IQR 21) for proximal cases. The difference was statistically significant (p = 0.009). The erection angle distribution in our cohort, including both proximal and distal hypospadias cases, skewed toward wider angles, highlighting a distinct pattern compared to data constituted by Kinsey and Sparling. DISCUSSION: Our findings indicate that the erection angle in hypospadias is significantly wider in proximal cases, suggesting a correlation between erection angle and severity of the hypospadias. While we acknowledge the limitation of comparing our prepubertal cohort with Kinsey's adult data, the absence of evidence suggesting significant post-pubertal changes in erection angle justifies this approach. Additionally, the use of digital images for angle assessment is not a standardized technique in hypospadias evaluation; these images were initially captured for curvature assessment. Despite these limitations, our study provides novel insights into seldom mentioned association with hypospadias - a wide erection angle, emphasizing the need for further research on its implications for surgical planning and long-term outcomes. CONCLUSION: This study introduces a wider erection angle as an additional characteristic of hypospadias particularly pronounced in proximal cases. To our knowledge, this is the first focused investigation on addressing this aspect of the condition. It emphasizes the need for further research on adults with wide post-repair erection angles to explore its long-term impact on sexual function and aesthetics.

Humans

Beyond survival: Testicular tissue cryopreservation for fertility preservation during childhood cancer, experiences from a single center.

INTRODUCTION: Approximately 30% of all male childhood cancer survivors receive gonadotoxic therapy increasing their risk for infertility. The only current option for potential fertility preservation in prepubertal males is through testicular tissue cryopreservation (TTC), available through clinical trials. Our aim was to evaluate our experience and identify barriers to enrollment in the TTC study. METHODS: A retrospective review was conducted to describe a single center experience with TTC, including an assessment of factors impacting the decision to enroll or not enroll in the TTC trial. RESULTS: A total of 61 patients were found to be eligible for enrollment in the TTC trial, with 23 patients (34%) choosing to enroll and undergo testicular tissue cryopreservation including 19 (83%) oncology patients. In patients who underwent TTC there were no unexpected delays in starting disease directed therapy. For families that declined enrollment, many did not see fertility preservation as a priority at the time of counseling. (n = 17, 44%). Other barriers included concerns about post-operative complications and a feeling of being overwhelmed at the time of counseling. DISCUSSION: Despite being the only preservation option for pre-pubertal boys facing risk of infertility, TTC enrollment was not pursued by a majority of eligible patients and families. Identifying potential barriers or misconceptions, particularly in regard to post operative complication risks, offer opportunities for improved counseling and education. Early introduction of the Fertility Navigation team allows for procedural coordination success and access for patients that are interested. Success is not measured in how many patients proceed with TTC, rather that all patients have the opportunity for counseling and discussion. CONCLUSION: TTC can be offered and completed safely without delays in disease-directed treatment timelines. A Fertility Navigation Program allows for equal opportunity for education and enrollment on TTC protocol which should be the goal for pediatric institutions, though is not pursued by many patients. A majority of those who declined the study did not see fertility as a priority at the time of treatment while others were concerned regarding peri-operative risks.

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Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

Primary mitochondrial diseases are a heterogeneous group of neurometabolic disorders recognized as the most common metabolic genetic diseases. They manifest at any age, affecting any tissue or organ, especially those with high energy demands, and are caused by pathogenic variants in both mitochondrial and nuclear genomes. Here, we aimed to describe the genetic spectrum of a Tunisian pediatric cohort with suspected mitochondrial diseases. We recruited 47 unrelated families who underwent exome sequencing as a first-tier test followed by whole mitochondrial genome sequencing for unsolved cases. Dedicated bioinformatic pipelines and prediction tools were used to determine the potential disease-causing variants. Sanger sequencing confirmed the presence and segregation within parents. For the newly identified variants, structural modeling was conducted to study the impact of these variants on protein structure and motions. Dual genome sequencing yielded a molecular diagnosis in 33/47 families (70%) and 18/47 (38%) showed disease-causing variants in genes encoding mitochondrial proteins. Among them, four families disclosed novel variants in FASTKD2, SERAC1 and GATB, which were supported by in-depth in silico and structural analyses demonstrating their deleterious effect. The remaining families (32%, 15/47) disclosed other metabolic and neurological disorders. An exome-first strategy delivers a high diagnostic yield in Tunisia, where consanguinity remains high and simultaneously captures mitochondrial and non-mitochondrial etiologies. Mitochondrial sequencing remains indispensable in the case of an inconclusive exome. Thus, our data expand the clinical and genetic spectrum of primary mitochondrial diseases in Tunisia, an underrepresented and admixed population.

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Persistent cloaca without vaginal-common channel fistula: A Case series characterizing a rare phenotype.

INTRODUCTION: Persistent cloaca occurs in approximately 1 in 25,000 live births. Among patients with cloaca, the absence of a vaginal connection to the common channel represents a rare phenotype with distinct anatomic and management considerations. We describe the urologic, gynecologic, and surgical characteristics of this patient subset. METHODS: We performed a retrospective analysis of a single-institution cohort of patients with persistent cloaca managed at a quaternary-care children's hospital between 2019 and 2025. Patients were eligible if they underwent primary cloacal repair by our multidisciplinary team and met all three diagnostic criteria for absent vaginal-common channel fistula: no hydrocolpos on imaging, no identified vaginal opening on cystoscopy or cloacagram, and no visible lumen between m&#xfc;llerian and cloacal structures identified intraoperatively. RESULTS: Of 51 patients who underwent primary repair, 6 (12%) met criteria for absent vaginal-common channel fistula. All met criteria for VACTEGRLS association. Common channel length ranged from 1.1 to 7.0 cm and urethral length from 0.5 to 2.2 cm. Urologic anomalies were nearly universal: five patients (83%) had a solitary functional kidney and four (67%) had vesicoureteral reflux. All underwent posterior sagittal anorectoplasty (PSARP) for rectal repair with the common channel repurposed as the neourethra. Five (83%) underwent diagnostic laparoscopy during which the m&#xfc;llerian structures were examined but left in situ. At last follow-up (median 17.5 months, range 4-35 months), three patients (50%) had volitional voiding and three (50%) required assisted bladder emptying via vesicostomy or Mitrofanoff. CONCLUSION: Persistent cloaca without a vaginal-common channel fistula represents a rare but clinically distinct phenotype characterized by severe urologic anomalies. Recognition of this phenotype is essential for surgical planning and long-term urologic and gynecologic surveillance. Because there was no connection between the vagina and the urinary tract, delaying management of the m&#xfc;llerian structures did not adversely affect the urinary tract.

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An exploratory analysis of decision-making in population affinity estimation among forensic anthropology practitioners in the United States.

Population affinity estimation in forensic anthropology often involves the integration of multiple pieces of information, including visual (nonmetric) and metric data. This study examines how practitioners interpret and synthesize visual and metric information and their decision-making processes. A Qualtrics survey was developed using two cases: Case 1 presented clear nonmetric signal but ambiguous metric signal, while Case 2 showed more ambiguous nonmetric signal but clear metric signal. Practitioners were asked to estimate population affinity based on visual assessment, Fordisc data, and provide a final, integrated assessment. A total of 22 valid survey responses were received, with the majority of survey respondents reporting more than 10&#xa0;years of forensic anthropology experience and holding a PhD degree. Results showed that there is substantial variability in Fordisc use and interpretation. Across both cases, participants synthesized conflicting visual and metric information, converged toward the stronger signal, and came to more consistent final estimates relative to the more ambiguous input. These findings highlight variability in practitioner decision-making but suggest that integration of nonmetric and metric information in population affinity estimation can moderate decision-making uncertainty. The results have implications for forensic anthropology education, training, and proficiency testing.

Humans

Patient-reported outcomes in pediatric regional anesthesia trials: current use and limitations.

PURPOSE OF REVIEW: This review examines the current use and limitations of patient-reported outcome measures (PROMs) in pediatric regional anesthesia research. Despite the increasing emphasis on patient-centered outcomes, existing pediatric outcome assessment frameworks may inadequately capture the pain experience and interference with daily living. RECENT FINDINGS: Across 17 identified randomized controlled trials and 15 ongoing studies, PROM use remains highly variable, with consistent reliance on observational pain scales such as the Face, Legs, Activity, Cry, and Consolability scale and limited incorporation of standardized, longitudinal health-related quality-of-life measures. SUMMARY: Current pediatric PROM frameworks remain fragmented, limiting comprehensive evaluation of recovery. Greater standardization and incorporation of developmentally appropriate, longitudinal outcome measures are needed to better align clinical research with meaningful patient-centered endpoints and to improve assessment of functional and psychosocial recovery.

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Characteristics of children with ureteroceles presenting for urological evaluation in the modern medical era.

INTRODUCTION: Historically, children with ureteroceles presented symptomatically and were managed surgically. It is unclear if this changed in the modern medical era of prenatal imaging and shared decision making. We aimed to describe the presentation and management of ureteroceles during initial urological evaluation of children in the era of widespread prenatal ultrasonography. PATIENTS AND METHODS: We retrospectively reviewed records of children (<18 years old [yo]) initially evaluated at our center with a ureterocele (2011-2020). We analyzed demographics, renal anatomy, initial presentation for evaluation, and initial management with non-parametric statistics. Febrile urinary tract infections (fUTIs, &#x2265; 38 &#xb0;C) were classified as 1) urosepsis (positive urine culture admitted to pediatric intensive care), 2) documented (positive urine culture) or 3) family-reported. RESULTS: We identified 188 children (65% female). Median age at presentation was 1.2 months old (mo) (IQR 18 days-4.4 mo). Antenatally-detected congenital anomalies of the kidney and urinary tract (aCAKUT) were noted in 143 (76%) children with a confirmed postnatal diagnosis of ureterocele. Overall, 129/188 (69%) children presented without symptoms and 59 (31%) presented with symptoms. fUTI was the most common symptomatic presentation (46/188, 24%): urosepsis (6 children), documented (30), and family-reported (10). Children with aCAKUT presented earlier than those without aCAKUT (27 days vs. 1.6 yo, p < 0.0001). They were also less likely to present with symptoms (11% vs. 96%, p < 0.0001), including fUTIs (7% vs. 78%, p < 0.0001). In total, 108 children (57%) were initially managed with transurethral incision, 73 (39%) were observed, and 7 (4%) had reconstructive surgery. Asymptomatic children with aCAKUT (42%) and symptomatic children without aCAKUT (37%) were more likely to be observed than symptomatic children with aCAKUT (7%, p = 0.02). Among 143 children with aCAKUT, those on antibiotic prophylaxis were less likely to present with a history of a fUTI compared to those not on prophylaxis (4/106 vs. 6/37, 4% vs. 16%, p = 0.02). COMMENT: We present a large observational study describing clinical and anatomical characteristics of children presenting with ureteroceles in a medical era of ubiquitous prenatal ultrasonography. Our retrospective study was limited by incomplete documentation of all antenatal ultrasonography and adherence with antibiotic prophylaxis. Long-term clinical outcomes will be the focus of future work. CONCLUSION: In contrast to historical cohorts, most children presented to urologists with asymptomatic ureteroceles diagnosed with aCAKUT. Most children without aCAKUT presented with a fUTI. Overall, 39% of children were initially observed, indicating an increased use of observation in the modern medical era.

Humans