bluuebunny/crossref_metadata_2025 huggingface dataset:
Evaluating the Role of Gynecomastia Surgery in Improving Sexual Function and Hormonal Profiles
Authors: Akdag Tansu , Akdag Abdullah , Ozkan Mustafa , Aydin Osman Enver
Published: February 2025

Background

Patients with gynecomastia may experience hormonal imbalances and sexual dysfunctions such as erectile and ejaculatory disorders.

Objectives

This study evaluates the changes in hormonal parameters and sexual function following gynecomastia surgery.

Methods

Thirty-two male patients (aged 15–65) without systemic or genetic comorbidities underwent gynecomastia surgery. Preoperative and postoperative hormonal parameters free and total testosterone, estrogen, prolactin, follicle-stimulating hormone [FSH], luteinizing hormone [LH], sex hormone-binding globulin [SHBG], and sexual function scores (International Index of Erectile Function [IIEF], Premature Ejaculation Diagnostic Tool [PEDT]) were assessed. A urologist blinded to the study evaluated patients andrologically.

Results

The mean age of the patients was 25.69 ± 10.37 years. Postoperative prolactin and estrogen levels significantly decreased (p=0.03 and p<0.001, respectively). All IIEF subscale scores showed significant postoperative improvements (p-values ranging from <0.001 to 0.006). PEDT scores significantly decreased postoperatively (p<0.001).

Conclusions

Surgical treatment of gynecomastia leads to significant improvements in hormonal parameters and sexual function. These benefits should be considered in surgical planning.
Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
Authors: Jiang Xingyuan , Mortlock Ryland D , Lomakin Ivan B , Zhou Jing , Hu Ronghua , Cossio María Laura , Bunick Christopher G , Choate Keith A
Published: February 2025

Background

Epidermal differentiation disorders (EDDs, a.k.a. ichthyosis and palmoplantar keratoderma) are severe heritable skin conditions characterized by localized or generalized skin scaling and erythema.

Objectives

To identify novel genetic variants causing palmoplantar keratoderma (PPK) and progressive symmetric erythrokeratoderma (PSEK) phenotypes.

Methods

We performed whole exome sequencing in a large EDD cohort including PPK and PSEK phenotypes to identify novel genetic variants. We investigated the variant consequence using in silico predictions, assays in patient keratinocytes, high-resolution spatial transcriptomics, and quantitative cytokine profiling.

Results

We identified three unrelated kindreds with autosomal dominant transmission of heterozygous SLURP1 variants affecting the same amino acid within the signal peptide (c.65C>A, p.A22D, and c.65C>T, p.A22V). One (p.A22V) had isolated PPK, and two others (p.A22D) had PSEK and PPK. In silico modeling suggested that both variants alter pro-SLURP1 cleavage, appending two amino acids to the secreted protein, which we subsequently confirmed with mass spectrometry. In patient keratinocytes we found increased differentiation-induced SLURP1 expression and secretion compared to healthy control cells. Spatial transcriptomics revealed increased NF-κB signaling and innate immune activity which may contribute to epidermal hyperproliferation in dominant SLURP1-PPK/PSEK.

Conclusions

Our results expand the phenotypic spectrum of EDD due to SLURP1 pathogenic variants. While autosomal recessive Mal de Meleda is due to biallelic loss-of-function SLURP1 variants, our finding of autosomal dominant SLURP1 pathogenic variants in kindreds with PPK and PSEK suggests a novel mechanism of action. We found that heterozygous p.A22V and p.A22D SLURP1 variants append two amino acids to secreted SLURP1, increase differentiation-induced SLURP1 expression and secretion, and upregulate NF-κB signaling in PSEK cases.
Cross-fitted empirical likelihood on semiparametric models
Authors: Qiu Chen
Published: February 2025

We propose a new cross-fitted empirical likelihood (CFEL) inference procedure for low dimensional parameters in the presence of complex, infinite dimensional nuisance parameters that may be estimated by modern machine learning methods. Relying on the Neyman orthogonal moment condition and cross-fitting as a sample-splitting procedure, we show that our CFEL statistic is asymptotically pivotal under weak conditions often invoked in Wald-type approaches. Three examples show how these can be established using low-level conditions on the quality of the estimated nuisance parameters. Simulation evidence suggests that the Wald approach may undercover more compared to our CFEL approach, especially when the estimating equation is nonlinear in the low-dimensional parameter and the first-step estimators have larger finite-sample estimation errors. We illustrate the value of our approach by revisiting the Pennsylvania Reemployment Bonus experiment that studied the effect of cash bonuses on unemployment duration.
Organic food consumption and the incidence of atherosclerotic cardiovascular disease in the Danish Diet, Cancer and Health cohort
Authors: Andersen Julie L M , Frederiksen Kirsten , Kyrø Cecilie , Hansen Johnni , Raaschou-Nielsen Ole , Bork Christian S , Dahm Christina C , Tjønneland Anne , Olsen Anja
Published: February 2025

Aims

We investigated associations between overall organic food consumption and consumption of specific organic food groups with the risk of developing atherosclerotic cardiovascular disease (ASCVD).

Methods

The study was based on a prospective cohort of middle-aged women and men from the Danish Diet, Cancer and Health study. Information about organic food consumption of vegetables, fruit, dairy products, eggs, meat, and bread and cereal products was obtained from a food frequency questionnaire. The frequency consumption of the six food groups was summarized into a total organic food score evaluated in categories (never, low, medium and high intake) and as a continuous variable. A total of 41,407 study participants were followed for a median of 16 years during which 5,365 developed ASCVD.

Results

Overall organic food consumption was associated with a 6% lower incidence rate of ASCVD per 6-point increment in the total organic food score (HR: 0.94, 95% CI: 0.89-0.99). Organic consumption of eggs was associated with lower incidence of ASCVD for both women (HR, 0.95, 95% CI 0.91-0.99) and men (HR: 0.96, 95% CI: 0.93-0.99), and organic consumption of bread and cereal products were associated with a lower incidence of ASCVD among men (HR: 0.95, 95% CI: 0.91-0.99).

Conclusions

We found that organic food consumption was associated with a lower incidence of ASCVD in a cohort of middle-aged Danish women and men.
Prenatal and Postnatal Nutritional Mismatch, Reflected by Birth Weight and Adult BMI, and Cardiometabolic Disease Risk
Authors: Chen Shuhao , Ding Ding , Cui Qingmei , Zhao Xirui , Feng Anping , Xia Yuhan , Xu Qian , Li Jie
Published: February 2025

Aims

This study aimed to investigate how nutritional exposures in early life, represented by birth weight (BW), and in later life, indicated by adult body mass index (BMI), interact to influence cardiometabolic disease (CMD) risk and to examine the underlying causal relationships.

Methods

Included were 254,224 participants of White European ancestry from the UK Biobank. To evaluate the joint associations of BW and adult BMI with CMD risk, BW was categorized as low (LBW, <2.5 kg) or high (HBW, ≥2.5 kg), and BMI as low (LBMI, <30 kg/m²) or high (HBMI, ≥30 kg/m²). Multivariable Cox proportional hazards models and 2x2 factorial Mendelian randomization (MR) analyses were employed to assess these associations and the underlying causality.

Results

Compared to the participants with HBW-LBMI, the hazard ratio (HR) for atherosclerotic cardiovascular disease (ASCVD) was 1.19 (95% CI: 1.12 to 1.26) in the LBW-LBMI group, 1.33 (1.28 to 1.38) in the HBW-HBMI group, and 1.62 (1.50 to 1.75) in the LBW-HBMI group. The LBW-HBMI group also exhibited higher risks for hypertension (HR: 2.42 [2.26–2.59]), diabetes (HR: 5.16 [4.73–5.63]), and hyperlipidemia (HR: 1.95 [1.81–2.10]). Additive interactions between LBW and HBMI were identified for metabolic diseases but not for ASCVD. The causality of these associations was confirmed by MR analysis.

Conclusions

Combined exposure to LBW and HBMI was most strongly associated with an elevated risk of CMD, underscoring the critical role of the mismatch between early-life and adult nutritional status in shaping long-term cardiometabolic health.
Occurrence of “under-the-radar” antibiotic resistance in anthropogenically affected produce
Authors: Davidovich Chagai , Erokhina Kseniia , Gupta Chhedi Lal , Zhu Yong-Guan , Su Jian-Qiang , Djordjevic Steven P , Wyrsch Ethan R , Blum Shlomo E , Cytryn Eddie
Published: February 2025

With global climate change, treated-wastewater irrigation and manure amendment are becoming increasingly important in sustainable agriculture in water- and nutrient-stressed regions. Yet, these practices can potentially disseminate pathogens and antimicrobial resistance determinants to crops, resulting in serious health risks to humans through the food chain. Previous studies demonstrated that pathogen and antimicrobial resistance indicators from wastewater and manure survive poorly in the environment, suggesting that ecological barriers prevent their dissemination. However, we recently found that these elements can persist below detection levels in low quality treated wastewater-irrigated soil, and potentially proliferate under favorable conditions. This “under-the-radar” phenomenon was further investigated here, in treated wastewater-irrigated and poultry litter-amended lettuce plants, using an enrichment platform that resembles gut conditions, and an analytical approach that combined molecular and cultivation-based techniques. Enrichment uncovered clinically relevant multidrug-resistant pathogen indicators and a myriad of antibiotic resistance genes in the litter amended and treated wastewater-irrigated lettuce that were not detected by direct analyses, or in the enriched freshwater irrigated samples. Selected resistant E. coli isolates were capable of horizontally transferring plasmids carrying multiple resistance genes to a susceptible strain. Overall, our study underlines the hidden risks of under-the-radar pathogen and antimicrobial resistance determinants in anthropogenically affected agroenvironments, providing a platform to improve quantitative microbial risk assessment models in the future.
Locating ‘country of origin’ in a borderless world: assessing Article 5(3) of the Berne Convention in the context of global platforms and social media
Authors: Glynn Cameron
Published: February 2025

The paper assesses Article 5(3) of the Berne Convention in an era of digital networks, social media, and globally operating platforms. Of primary focus is the significance and meaning of a ‘country of origin’ provision in these contexts, where cross-border communication and the removal of territorial limitations are defining features. Resolving this tension seems critical if the Berne Convention is to maintain its relevance today, and into the future, where digital spaces seem only to be strengthening in scope and universality. This paper evaluates these challenges and proposes a novel interpretation of Article 5(3), fitting for the developing digital environment.
A genetically encoded secreted toxin potentiates synaptic NMDA receptors in hippocampal neurons and confers neuroprotection
Authors: Carmi Ido , Zoabi Shaden , Bittan Asaf M , Kellner Shai , Oz Shimrit , Heinrich Ronit , Berlin Shai
Published: February 2025

NMDA receptors (NMDARs) play essential roles in neuronal development, survival, and synaptic plasticity, to name a few. However, dysregulation in receptors' activity can lead to neuronal and synaptic damage, contributing to the development of various brain pathologies. Current pharmacological treatments targeting NMDARs remain limited, for instance due to insufficient receptor selectivity and poor spatial targeting. Genetic approaches hold promise to overcome some of these issues; however, require genetically encodable NMDAR-modulating peptides, which are scarce. Here, we explored NMDAR-selective peptide toxins from marine cone snails, which resulted in the necessary engineering of a posttranslational modification-free variant of Conantokin-P (naked Con-P). The naked form is essential for expression in mammalian cells. We systematically explored the naked variant and discovered that naked Con-P maintains its ability to inhibit GluN2B-containing receptors, but uniquely acquired the ability to potentiate GluN2A-containing synaptic receptors. We then engineered a secreted naked Con-P that readily enhances NMDAR-mediated synaptic events in primary hippocampal neurons, and mitigates neuronal damage induced by staurosporine. We therefore provide a genetically encodable, subtype selective, and secreted bimodulator of NMDARs. This new variant and approach should pave the way for the development of additional genetic tools, specifically tailored to target NMDARs within distinct cellular populations in the brain.
Vancomycin Concentrations in Umbilical Cord Blood After Intrapartum Exposure
Authors: Coggins Sarah A. , Wade Kelly C. , Watt Kevin M. , Downes Kevin J. , Puopolo Karen M.
Published: February 2025

Little is known about the fetal–neonatal pharmacokinetics of maternally administered, weight-based vancomycin dosing for group B streptococcus (GBS) intrapartum antibiotic prophylaxis. Our objective was to quantify vancomycin concentrations in umbilical cord blood at birth after weight-based maternal intrapartum vancomycin administration and to assess cord blood vancomycin levels relative to the established GBS clinical minimum inhibitory concentration (MIC) breakpoint. Using a convenience sample of stored sera from our biorepository, we measured vancomycin levels in umbilical cord blood from 26 neonates after maternal intrapartum vancomycin exposure. Most neonates (24/26, 92.3%; 95% CI, 74.9–99.1%) had vancomycin cord blood levels above the MIC breakpoint (1 microgram/mL or higher) for GBS.
Intravascular Large B-Cell Lymphoma With Exclusively Cutaneous Involvement, Colonizing Pre-Existing Hemangiomas: A Rare Case With Aberrant HMB45 Expression
Authors: García de Sola-Llamas Carmen , Pérez-Pérez Manuel , Morillo-Andújar Mercedes , Ríos-Martín Juan J.
Published: February 2025

Intravascular large B-cell lymphoma (IVLBCL) is a rare and aggressive subtype of non-Hodgkin lymphoma. It is characterized by the presence of neoplastic lymphoid cells within blood vessels. We report a rare case of IVLBCL with exclusively cutaneous involvement colonization of hemangiomas. A 55-year-old man with a history of cutaneous angioma consulted dermatology because of the growth of some of the hemangiomas in recent months. Histologic examination revealed a dermal proliferation of small- and medium-sized vessels with lumina occupied by large pleomorphic cells with B immunophenotype and aberrant expression of HMB-45. Biopsy of a pre-existing hemangioma may be useful in the diagnosis of suspected cutaneous IVLBCL. The cutaneous variant has a better prognosis. It is also important to note that unexpected protein expression or loss of expression in malignant tumors may be a risk factor for misdiagnosis.
Clinicopathologic Features of PRAME-Positive Common Melanocytic Nevi: A Case-Control Study
Authors: Knittel Ronan J. , Harvey Nathan T. , Ardakani Nima Mesbah , O'Brien Blake , Lee Stephen , Wood Benjamin A.
Published: February 2025

Preferentially Expressed Antigen in Melanoma (PRAME) immunohistochemistry has been found to be relatively sensitive and specific for the diagnosis of melanoma, although the detection of PRAME positivity in some melanocytic nevi is a significant limitation. This study was designed to investigate the features of common melanocytic nevi showing PRAME staining, encountered in routine community practice. We reviewed all pathology reports on common melanocytic nevi seen in routine practice for a 1-month period and found that 7.1% of nevi stained with PRAME were considered positive by the original reporting pathologist. A total of 41 PRAME-positive nevi (representing 4.7% of nevi) and a control group of 43 PRAME-negative nevi collected during the same period were identified. The histologic features were reviewed, and the diagnosis and PRAME staining were recorded in a masked fashion by 3 dermatopathologists. Our results suggest that caution is warranted in the interpretation of PRAME in the assessment of small lentiginous melanocytic nevi with a low level of suspicion for melanoma, because these are not infrequently PRAME positive. We found a statistically significant association between the presence of solar elastosis and lentiginous growth pattern, and PRAME status (P < 0.01). When comparing the original diagnosis with the reviewer's diagnosis, the original diagnosis was severely atypical in 54% of PRAME-positive cases, while only 7% were considered to show severe atypia on review masked to PRAME status (P < 0.001). There was no such discrepancy among PRAME-negative cases (9% vs. 19%, considered severely atypical). This finding provides evidence of a “PRAME bias” in the interpretation of melanocytic lesions with no or mild atypia, whereby such lesions are classified as severely atypical when PRAME is positive, likely with the intention of prompting re-excision.
Rhabdomyosarcoma Harboring NRAS or HRAS Mutation Arising in Giant Congenital Melanocytic Nevus: Report of 2 Cases
Authors: Kletskaya Irina , Konovalov Dmitry , Druy Alexander , Abasov Ruslan , Salomatina Anastasia , Zaitseva Margarita , Kazaryan Guzel , Pishchayeva Nadezhda , Belousova Irena , Kazakov Dmitry V.
Published: February 2025

Nonmelanoma malignancies associated with congenital melanocytic nevi (CMN) are extremely rare, with only 12 reported cases of rhabdomyosarcoma (RMS) to date. We present 2 additional cases of RMS arising in giant CMN, with immunohistochemical and molecular biologic investigations. The first case was a 32-year-old woman with a personal history of melanoma in giant CMN who, after successful treatment and long remission, presented with a new 1-cm nodule within the CMN. Microscopically, the atypical areas exhibited a round cell/alveolar morphology with immunoreactivity for desmin and myogenin, and lacked PAX3/7::FOXO1 fusions typical for alveolar RMS on a reverse transcription polymerase chain reaction analysis. An identical NRAS p.Q61R mutation with comparable variant allele frequency (32% and 44%) was identified in both the nevus and the RMS tissue by next-generation sequencing. The second patient was a 5-year-old girl with a rapidly growing, bleeding, ulcerated 3 × 4 cm interscapular mass within a giant CMN that histologically seemed as a proliferation of pleomorphic spindle, polygonal and epithelioid cells with marked pleomorphism immunoreactive for myogenin, muscle-specific actin, and smooth muscle actin. Next-generation sequencing yielded an HRAS p.Q61R mutation with limited variant allele frequency (7%) in the RMS component, while ATRX p.Q2193* variant was detected in the nevus. Our study is apparently the first report of NRAS and HRAS mutations in tumors with RMS phenotype arisen in CMN.
Acral Cutaneous Intraneural Pseudoperineurioma
Authors: AbdullGaffar Badr , Farhan Rabiah
Published: February 2025

Several cutaneous neurovascular stromal lesions are clinically and pathologically ill-defined entities. They are known by different nomenclatures, often unrecognized, misinterpreted, and confused with other skin lesions. Reports have documented cases of palmar and oral lesions in both children and adults. There is uncertainty regarding their true prevalence, clinicopathologic characteristics, and classification. Our aim is to highlight the salient histopathologic, histochemical, and immunohistochemical features of acral nodular tumors showing perineuriomatous differentiation. We found 3 teenagers (0.2%) [2 females, 1 male, average age: 13 years] with hand nodules out of 1331 patients with cutaneous and oral polypoid lesions. They were isolated, asymptomatic, nontraumatic, subcentimetric, palmar, digital nodules with an average duration of 5 years. They demonstrated dermal-based anomalous growths composed of thick tortuous neurovascular bundles and collagenous fibrovascular stroma. Masson trichome demarcated micronodular and plexiform neurovascular bundles showing concentric onion-bulb whorls ensheathed in collagenous fibrovascular stroma. Elastic fibers were absent. Alcian blue demonstrated intraneural mucinous alteration and loose interstitial myxoid mesenchyme. CD31, ERG, and smooth muscle actin highlighted small intraneural capillary-sized, and larger venous and arteriolar interstitial vasculatures. CD34 decorated the interstitial mesenchyme. S100, SOX10, and neurofilament revealed sparse neural components, whereas EMA and GLUT1 highlighted prominent perineurial components within the neurovascular bundles and onion-bulb micronodules. The findings suggest that cutaneous intraneural pseudoperineurioma nodules may represent a distinct clinicopathologic entity among traumatic neuromas, resembling cutaneous intraneural perineurioma. Further validation studies are necessary because of the small size of the case series and the lack of molecular genetic studies.
Comparison of the IHC Expression of p16, p53, and MIB-1 in Extragenital Skin Bowenoid Lesions With High- and Low- Chronic Sun Damage
Authors: Gil-Pallares Pedro , Gil-Pallares Maria E. , Navarro-Bielsa Alba , Figueroa-Silva Olalla , Taboada-Paz Laura , Suárez-Peñaranda José M.
Published: February 2025

Background:

Bowen disease and bowenoid actinic keratosis are difficult to distinguish due to overlapping histopathology. This study evaluates the role of p16, p53, and MIB-1 staining patterns in differentiating high-chronic sun damage (H-CSD) and low-chronic sun damage bowenoid lesions.

Methods:

Sixty extragenital in situ squamous cell carcinomas were included. Lesions with elastosis were considered H-CSD. P16, p53, and MIB-1 staining patterns were classified as block, gradient, or focal.

Results:

Seventy-two percent of lesions were H-CSD. Full-thickness dysplasia was observed in all lesions, and basal layer involvement in 97%. P16 staining was positive in 80%, matching areas of higher atypia, with block pattern more frequent in H-CSD (58% vs. 47%, P = 0.047). P53 was positive in 47%, with block pattern more common in H-CSD (40% vs. 18%, P = 0.02). MIB-1 was positive in all cases. P16 and MIB-1 patterns coincided in 75%, independently of sun exposure.

Conclusions:

P16 and p53 expression may be less frequent in bowenoid lesions than previously described. Histopathological features like basal layer and adnexal or follicular involvement may not differentiate H-CSD from low-chronic sun damage lesions or Bowen disease from bowenoid actinic keratosis. Variations in p16, p53, and MIB-1 staining could indicate different dysplasia pathways, although further studies are needed to clarify their prognostic significance.
“Eventually…Your Body Just Can't No More”
Authors: Keirns Natalie G. , Rosen Rochelle K. , Burg Matthew , Gathright Emily , Ouaddi Sara , Tripolone Janice , Breault Christopher , Salmoirago-Blotcher Elena
Published: February 2025

Background

Takotsubo syndrome (TS) is preceded by emotional/physical triggers in two-thirds of cases and no trigger in one-third. Information on triggers is typically obtained in the emergency room, and patients rarely have the opportunity to describe in detail the event(s) leading to TS onset.

Objective

This study aimed to conduct a qualitative exploration of patients' narratives regarding the events preceding their TS episode.

Methods

Semistructured interviews inquiring about the presence, type (physical vs emotional), and timing of contiguous events/circumstances relative to symptoms onset were conducted within 2 to 12 weeks of hospital discharge for a TS episode. Interview recordings were transcribed, coded, and analyzed with applied thematic content analysis.

Results

Participants (n = 30; 97% women, 93% White; age, 63 ± 8 years) described equal proportions of acute events (onset < 4 days before admission, 43%) and chronic circumstances (onset > 4 days before admission, 43%) preceding their TS episodes. Acute events included emotional, physical, and mixed (ie, emotional and physical) factors. Chronic circumstances included emotional and mixed factors. Seventy percent of participants perceived these events/circumstances as contributing to their onset of TS.

Conclusions

Patients' narratives of the events contiguous to the TS episode are complex and often include factors that are chronic and/or emotional in nature. Future research should explore the potential importance of emotional aspects and chronic stress in the development of TS.
Analysis of Residency Experience in Transfemoral Prosthetics
Authors: Hull Denise , Kenworthy Sally , Mullen Ashley
Published: February 2025

Introduction

As part of the requirements for certification in orthotics and prosthetics, a clinical residency must be completed. Currently, there has been minimal analysis of residency data that could demonstrate a presence or lack of consistency between each resident’s experiences. Analysis of data and the standardization of the residency experience may offer a pathway toward consistency in entry-level practice. Transfemoral prosthetic competency is one of the most difficult to achieve.

Objective

The objective of this study was to quantify the experience of residents with respect to transfemoral patient care.

Study Design

This study is a retrospective data analysis.

Methods

Data were collected from National Commission on Orthotics and Prosthetics Education (NCOPE) Tracker for residents who completed an integrated residency from the years 2018–2021. Patient appointment date, appointment type, patient age (years), gender (male/female), diagnosis (ICD-10 code with descriptor), device type, and resident engagement level (observer, assistant, independent) were analyzed to determine trends and variation.

Results

Residents saw a median of 112 (interquartile range [IQR] = 61) transfemoral patient encounters with a median of 17.8% (IQR = 17.2) logged as independent encounters. Results were similar across three cohorts of residents.

Conclusions

This study provides a baseline for developing transfemoral prosthetic competency during an integrated, combined O&P residency. Just under one tenth of cases logged involved transfemoral care. The majority of those cases were logged at the level of assistance, and the timing of transfemoral competency attainment did not affect subsequent case volume or resident engagement level. Comparison with the ABC Practice Analysis indicated potential differences in appointment types experienced during residency as compared with clinical practice. Further analysis is required to evaluate other residency models and other factors, which affect the attainment of clinical competence and development of skill in transfemoral prosthetic care.

Clinical Relevance

Documentation and comparison of the residency experience may offer a pathway toward developing consistency in residency training and continuation into entry-level practice.
Perceptions of the challenges facing nurse practitioners in providing care to children
Authors: Bowman Ashleigh F. , Gigli Kristin Hittle
Published: February 2025

Background:

Pediatric nurse practitioners (NPs) play an essential role in achieving optimal child health. However, few studies have examined barriers to implementing pediatric NP roles.

Purpose:

The purpose of this study was to identify challenges in pediatric NPs' practice that limit their ability to provide care.

Methodology:

The authors conducted a secondary, qualitative analysis of survey data collected by the National Association of Pediatric Nurse Practitioners. The authors analyzed data from one open-ended question, “What is the biggest challenge to the pediatric-focused NP role?” An inductive thematic analysis resulted in discovery of 18 themes.

Results:

A total of 980 pediatric NPs responded, most (67.9%) were primary care pediatric NPs, and 15.2% were acute care pediatric NPs. Challenges aligned with four megathemes: who we are, what we can do, what we need, and what our patients need.

Conclusions:

Pediatric NPs identified barriers to role recognition that align with improving professional identity.

Implications:

Future research should address barriers to role recognition that can increase the ability of pediatric NPs to provide child health care.
The impact of the Naples prognostic score in long-term outcomes after percutaneous coronary intervention for chronic total occlusions
Authors: Dündar Cihan , Tanalp Ali Cevat , Yağmur Aysel , Karaaslan Muhammet Buğra
Published: February 2025

Background

Chronic total occlusions (CTOs) of coronary arteries present a significant challenge in cardiology, with long-term outcomes following percutaneous coronary intervention (PCI) for CTOs remaining variable and unpredictable. The Naples prognostic score (NPS), which incorporates markers of nutritional status and systemic inflammation, has shown potential in predicting outcomes in various cardiovascular settings. This study evaluates the NPS as a predictor of long-term outcomes after PCI for CTOs.

Methods

A retrospective analysis was conducted on 287 patients who underwent coronary angiography. Patients were categorized into non-CTO-PCI and CTO-PCI groups. Patients were further stratified based on survival status. Cox regression and Kaplan–Meier survival analyses were used to evaluate the association between NPS and long-term outcomes.

Results

The mean age of the study population was 63.5 ± 10.6 years, with 28.6% being female. The NPS was significantly higher in the CTO-PCI group compared to the non-CTO-PCI group (P = 0.004) and was also elevated in the non-survival group (P = 0.004). Multivariable Cox regression analysis identified NPS as an independent predictor of mortality (P = 0.015). Kaplan–Meier analysis demonstrated significantly higher mortality in patients with an elevated NPS (P = 0.009).

Conclusion

The NPS is a valuable independent predictor of long-term mortality in patients undergoing CTO-PCI. Incorporating NPS into existing risk stratification models could improve predictive accuracy and guide individualized patient management. Further prospective studies are warranted to validate these findings and explore interventions targeting inflammation and nutrition in this high-risk population.
Congenital deafness: from screening to management
Authors: Bouchlarhem Saad , Achraf Sbai , Drissia Benfadil , Adil Eabdenbitsen , Azeddine Lachkar , Fahd El Ayoubi El Idrissi
Published: February 2025

Congenital deafness represents a major global health challenge, impacting both communication skills and social integration. The results of epidemiological observations show variable prevalence rates, influenced by genetic and environmental factors. The pathophysiological processes involve abnormalities of the auditory system resulting from genetic mutations, prenatal infections and exposure to ototoxic substances. Diagnostic approaches are multidisciplinary, combining audiological, genetic and imaging assessments. Management options include the use of hearing aids, cochlear implants, therapies and educational assistance, with a strong focus on the importance of early intervention. The implementation of universal newborn hearing screening programs plays a crucial role in early detection, although there are disparities. Future research efforts should focus on understanding genetic and environmental contributions, as well as developing innovative screening and intervention strategies. Collaboration between healthcare professionals, researchers, policymakers and educators is essential to ensure equal and adequate care and support for people with congenital deafness. This comprehensive review synthesizes the current state of the art on congenital deafness, covering topics such as epidemiology, pathophysiology, etiology, diagnostic methods, management strategies, screening procedures and future directions
A Kikuchi-fujimoto Syndrome in the Pocket of a Non-hodking Lymphoma: Case Report With a Mini-review of the Literature
Authors: Bouchlarhem Saad , Amine Sbai Achraf , Drissia Benfadil , Azeddine Lachkar , Fahd El Ayoubi El Idrissi
Published: February 2025

Introduction:

Kikuchi-Fujimoto disease is a rare, benign necrotizing lymphadenitis primarily affecting young women.

Case presentation:

We present the case of a 26-year-old female patient with no notable medical history, who developed a persistent right-sided lateral cervical lymphadenopathy over a two-month period. Following a comprehensive clinical, laboratory, radiological, and histopathological evaluation, a diagnosis of Kikuchi-Fujimoto disease was confirmed. Given the rarity of this condition, clinicians should maintain a high index of suspicion to avoid misdiagnosis or delayed recognition.

Clinical discussion:

Kikuchi-Fujimoto disease is a rare, It presents as febrile cervical lymphadenopathy and may be associated with systemic lupus erythematosus. Often mistaken for conditions such as non-Hodgkin lymphoma, its diagnosis relies on histopathological examination. Lymph node biopsy is crucial to prevent unnecessary investigations. The prognosis is generally favorable, with treatment commonly involving corticosteroids.

Conclusion:

While the prognosis for KFD is generally favorable, around 30% of sufferers may go on to develop systemic lupus erythematosus, underlining the need for ongoing monitoring of autoimmune markers
Ultrasound-guided bilateral Erector Spinae Plane Block (ESPB) for postoperative analgesia in laparoscopic cholecystectomy: a randomized controlled trial
Authors: Mandal Arun Kumar , Shrestha Bibek , Yadav Krishna Kumar , Dahal Suman , Yadav Pratibha , Yadav Prashant , Deo Sulav
Published: February 2025

Background

Laparoscopic cholecystectomy is a commonly performed procedure with significant postoperative pain, leading to potential complications such as delayed recovery and opioid-related side effects. Regional anesthesia, particularly the Erector Spinae Plane Block (ESPB), has shown promise in improving postoperative analgesia. This study investigates the effectiveness of ultrasound-guided bilateral ESPB for pain management in LC, compared to standard multimodal analgesia.

Materials and methods

This double-blind randomized controlled trial included 48 patients undergoing LC at a tertiary hospital between June 2022 and June 2023. Patients were randomly assigned to two groups: 24 received ultrasound-guided bilateral ESPB with 0.25% ropivacaine, and 24 received standard multimodal analgesia. Statistical analysis was conducted using t-tests, ANOVA, and chi-square tests, with a p-value of less than 0.05 considered significant.

Results

The ESPB group experienced significantly prolonged analgesia, with a mean time to rescue analgesia of 11.2 hours compared to 0.5 hours in the control group (p < 0.001). Pain scores were consistently lower in the ESPB group for the first 6 hours postoperatively. Additionally, total tramadol consumption in the ESPB group was significantly reduced (172.92 mg vs. 245.83 mg, p < 0.001). Patient satisfaction was higher in the ESPB group.

Conclusion

Ultrasound-guided bilateral ESPB significantly enhances postoperative pain management in Laparoscopic Cholecystectomy, reducing both pain intensity and opioid consumption. It represents a safer alternative to opioid-based analgesia, improving recovery and patient outcomes.
Perioperative Management of a Pregnant Patient With a Mechanical Heart Valve Undergoing Appendectomy: a Case Report
Authors: Hassan Ibrahim Nagmeldin , Yaqub Siddig , Ibrahim Mohamed
Published: February 2025

Introduction and importance:

Managing pregnant patients with mechanical heart valves who require non-cardiac surgery presents unique challenges, particularly in balancing anticoagulation to prevent thromboembolic complications while minimizing bleeding risks. This case report discusses the perioperative management of a pregnant patient with a mechanical mitral valve undergoing emergency appendectomy.

Case presentation:

A 28-year-old pregnant woman at 22 weeks gestation with a history of rheumatic heart disease and a mechanical mitral valve presented with acute appendicitis. Anticoagulation therapy was shifted from warfarin to low-molecular-weight heparin (LMWH) to mitigate the risks of bleeding and teratogenicity. Intravenous unfractionated heparin (UFH) was used perioperatively to maintain adequate anticoagulation. A multidisciplinary team guided the patient’s care, and she underwent a successful laparoscopic appendectomy with stable maternal and fetal outcomes.

Clinical discussion:

Perioperative anticoagulation in pregnant women with mechanical heart valves is critical to avoiding valve thrombosis while minimizing the risk of bleeding. In this case, using LMWH as a bridging therapy and UFH during surgery proved effective in balancing these risks. The case underscores the importance of a coordinated multidisciplinary approach to optimize maternal and fetal outcomes during emergency surgery.

Conclusion:

This case highlights the complexities of managing anticoagulation in pregnant patients with mechanical valves requiring non-cardiac surgery. With appropriate anticoagulation adjustment, multidisciplinary planning, and vigilant perioperative monitoring, both maternal and fetal outcomes can be favorable in such high-risk situations.
Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study
Authors: Alzwaihri Abubakr Salem , Almasoudi EidAyed , Hadrawi Manal Taha , Danish Enam Y , Alasmari Faisal Fahad , Ahmed Hassan Arafah
Published: February 2025

Background:

Cysteine beta-synthase deficiency, often known as classic homocystinuria, is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics.

Objective:

This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, homocystinuria patients presented with between 2018 and 2022.

Methods:

This retrospective research included 6 homocystinuria patients. Demographic and clinical characteristics of patients as age, gender, comorbidities were collected. Relevant clinical and ophthalmic assessments, like visual acuity, fundus examination findings, complications and type of surgery were also reported.

Results:

Six patients with homocystinuria (12 eyes) were included. Associated diseases were mostly mental retardation (100%), epilepsy (66.7%), developmental delay (50.0%), scoliosis (33.3%), bronchiectasis (16.7%), thrombophilia (16.7%), metabolic disorders (16.7%) and deep venous thrombosis (16.7%). All patients had ectopia lentis (100%), while one patient (16.7%) had eye ectropion, one patient (16.7%) had anterior uveitis and one patient (16.7%) had scleromalacia. Surgery type was mostly Lensectomy and vitrectomy (83.3%) then scleral fixation (16.7%), and Grice green procedure (16.7%). There were insignificant differences between first and last Autoref readings in spherical, cylinder and axis errors of right and left eyes

Conclusions:

Late-diagnosed homocystinuria patients frequently have abnormalities of the eyes. Ectopia lentis should always raise the possibility that homocystinuria is the cause of the condition.
Spectrum of Parathyroid Disorders in Pakistan: a Review Article
Authors: Wasim Umaima , Waseem Maria , Kumari Usha , Kumari Varsha , Sahito Abdul Moiz , Shanzay Zahid , Afzal Ifrah , Shaikh Somina , Alam Shaheer , Kumar Danish , Khan Aarash
Published: February 2025

Parathyroid abnormalities and gland diseases are classified as hyperparathyroidism and hypoparathyroidism. These conditions are often discovered incidentally during screenings for abnormal serum calcium levels, typically conducted for renal or bone diseases and other disorders. Parathyroid hormone (PTH) plays a crucial biological role in maintaining ionized calcium and phosphate levels within the normal range by activating specific receptor-mediated cell responses throughout the body.

Compared to the Western world, Pakistan has significantly fewer publications on parathyroid diseases. Most available research comprises case reports, small case series, or retrospective studies, often including approximately 100 studies. In this article, we describe the demographics and varied clinical presentations of parathyroid gland disorders in the Pakistani population. Additionally, we provide a summary of biochemical parameters and localization strategies used in these cases. A compiled record of parathyroid gland disorders in Pakistan is currently lacking, and this article aims to bridge that gap by presenting a comprehensive review of all reported cases.

This review includes a summary of 54 studies, comprising retrospective studies and case reports, highlighting the clinical variability of parathyroid (PTH) disorders in Pakistan. According to the literature, 0.5% of patients were asymptomatic, while the mean duration of symptoms among symptomatic patients was 3.03 years. Unlike Western populations, laboratory findings from Pakistani patients show elevated levels of serum calcium, serum parathyroid hormone, and serum alkaline phosphate. Common clinical features included abdominal pain, dysphagia, and vitamin D deficiency, along with constitutional symptoms such as arthralgias, myalgias, fatigue, and headache. Psychiatric complications, particularly clinical depression, and pathological fractures emerged as the most frequent complications associated with PTH disorders in Pakistan.
Evaluating subclinical atherosclerosis, arterial stiffness, and lipid profile in patients with anti neutrophilic cytoplasmic antibodies associated vasculitis: a systematic review and meta-analysis
Authors: Yadav Rukesh , Mishra Ashish , Mandal Prince , Karki Susmin , Pokhrel Saurav , Neupane Narayan Prasad
Published: February 2025

Cardiovascular diseases (CVD) account for a significant portion of deaths in anti- neutrophilic cytoplasmic antibodies associated vasculitis (AAV). Previous studies have shown the presence of accelerated subclinical atherosclerosis and arterial stiffness in AAV patients that is not solely explained by conventional cardiovascular risk factors. Moreover, lipid profile may be deranged in such patients. The evidence of subclinical atherosclerosis, arterial stiffness, and lipid profile have not been analyzed in AAV patients.

Methods:

PubMed, Google Scholar and Embase databases were searched from inception till January 2024 for studies that measured parameters of arterial structure and function ((carotid intimal media thickness (CIMT), flow mediated dilation (FMD), pulse wave velocity (PWV)) and lipid profile of adult patients with AAV and matched healthy controls. Outcomes included standardized mean difference (SMD) with 95% confidence interval (CI) of CIMT, FMD, PWV and lipid profile between AAV patients and healthy controls. The analysis was done via Revman 5.1.

Results:

Ten studies comprising 360 AAV patients and 487 healthy controls were included in this analysis. CIMT value was significantly higher in AAV patients as compared to healthy controls [SMD = 0.34, CI = 0.09-0.59, P = 0.008, I2 = 56%]. Moreover, PWV was significantly higher in AAV patients [SMD = 0.53, CI = 0.26-0.79, P <0.001, I2 = 0%] as compared to healthy controls. The lipid profile was not significantly different among the AAV patients and the healthy controls except the total triglycerides level.

Conclusion:

This review validates the occurrence of subclinical atherosclerosis and arterial stiffness in AAV patients. Regular assessment using surrogate markers is warranted with aim to reduce CVD in such patients.
The neurobiological impact of oxytocin in mental health disorders: a comprehensive review
Authors: Chaulagain Ram Prasad , Shrestha Yelona , Shrestha Harisharan , Bhandari Rameshor , Gurung Praful
Published: February 2025

Oxytocin, a neuropeptide, plays a significant role in modulating social behavior and has been widely studied for its potential impact on mental health disorders. This review examines the neurobiological mechanisms through which oxytocin influences mental health and its therapeutic potential in conditions such as autism spectrum disorder, schizophrenia, PTSD, anxiety, and depression. Oxytocin enhances social bonding, trust, and empathy by modulating neural circuits linked to social interactions. Studies indicate that oxytocin’s ability to regulate the hypothalamic-pituitary-adrenal (HPA) axis plays a vital role in stress response and emotional regulation. Therapeutic applications, particularly intranasal administration of oxytocin, have shown promise in alleviating symptoms and improving patient outcomes. However, personalized approaches are essential to optimize treatment effectiveness. Despite its potential, challenges remain in understanding the mechanisms underlying its effects and identifying the patient populations that would benefit most from such therapies. Future research should focus on elucidating these mechanisms, exploring the long-term efficacy of oxytocin-based interventions, and advancing personalized medicine to maximize its clinical utility.
Cerebral venous sinus thrombosis in a postpartum woman: a case report on early diagnosis and management
Authors: Ali Masab , Ahmad Muhammad Husnain , Babar Ilsa , Javeriya Sana , Ochani Teesha , Katyara Sakshi , Hassan Muhammad , Saeed Humza
Published: February 2025

Introduction and importance

Cerebral venous sinus thrombosis (CVST) is a rare but serious condition that can cause permanent neurological impairments if not promptly diagnosed and treated. Its nonspecific presentation, such as headache and altered awareness, often delays diagnosis. Postpartum women are at heightened risk for CVST, necessitating vigilance.

Case presentation

We describe a 25-year-old woman diagnosed with CVST two weeks postpartum. She presented with fever, severe headache, impaired vision, expressive dysphasia, and disturbed mental status. Magnetic resonance imaging and magnetic resonance venography confirmed multiple thrombosed cerebral sinuses. The patient was treated with low-molecular-weight heparin (LMWH), followed by rivaroxaban, and demonstrated significant clinical improvement. She was subsequently discharged on oral anticoagulation therapy.

Clinical discussion

This case emphasizes the significance of maintaining a high level of suspicion for CVST in postpartum women who exhibit neurological symptoms. Early detection and intervention are essential to stop the disease’s course and reduce its long-term effects. The use of anticoagulation medication, commencing with LMWH followed by oral anticoagulants like Rivaroxaban, was beneficial in this patient, illustrating the typical approach to CVST management.

Conclusion

CVST in postpartum women requires prompt diagnosis and anticoagulation therapy to prevent severe complications. High clinical suspicion and early intervention can mitigate long-term neurological sequelae. Further research is needed to explore intensive treatment strategies for high-risk populations.