bluuebunny/crossref_metadata_2025_split huggingface dataset:
The History and Impact of Prescribing Orthokeratology for Slowing Myopia Progression
Authors: Lipson Michael J. , Koffler Bruce H. 
Published: September 2024

Abstract:
This paper discusses the history and impact of orthokeratology on slowing the progression of myopia. It discusses the origins and evolution of orthokeratology from polymethymethaccrylate lenses worn during the day to its current prescribing of highly permeable, innovative reverse-geometry designs worn only while sleeping. Technological advances in corneal topography, lens design, lens materials, and manufacturing have facilitated growth of orthokeratology to a precise and predictable procedure. More recently, significant interest in orthokeratology has been stimulated by its efficacy in slowing axial elongation in myopic children. Safety of children wearing contact lenses while sleeping has been an ongoing concern. The potential of serious complications exists, but long-term studies and clinical experience have shown that risks of those events can be minimized with strict compliance with lens cleaning, disinfection, and hand hygiene. Because no correction is required during waking hours, patients using orthokeratology report higher vision-related quality of life, less activity restrictions, and more comfortable eyes compared with spectacles or contact lenses worn during the day. The future growth of orthokeratology will be fueled by the prescribing of orthokeratology as a modality to slow axial elongation and an alternative modality to spectacles, traditional contact lenses, and refractive surgery to correct refractive error.
Risk Factors for Bacterial Keratitis and Severe Disease in Hydrogel Contact Lens Users: A Multicenter Case–Control Study and Case-Only Analysis
Authors: Szczotka-Flynn Loretta B. , Raghupathy Sangeetha , Shah Soham , Suri Kunal , Briggs Farren , Iyengar Sudha K. 
Published: September 2024

Purpose:
To assess risk factors for contact lens (CL)-related bacterial keratitis, cases and high-risk controls were enrolled. Using high-risk controls can help elucidate whether certain CL types or modalities are attributable to disease burden if risky wear patterns are similar between the cases and controls. This analysis identified whether such CL factors were associated with the occurrence of bacterial keratitis. In addition, a case-only analysis determined CL factors associated with severe disease.

Methods:
From 2018 to 2021, 158 controls were enrolled at University Hospitals of Cleveland Eye Institute, and 153 bacterial keratitis cases were enrolled across 14 sites in the United States. Cases were soft CL wearers with either culture-proven bacterial keratitis or a corneal infiltrate with an overlying epithelial defect within the central 4 mm of the cornea, uveitis, or significant pain. Fungal, protozoan, or nonsoft CL wear-related microbial keratitis cases were excluded. Controls were recruited from high-risk CL wearers with no history of disease. All participants completed a questionnaire related to demographics, type of CL used, wearing schedule, lens handling practices, and storage case handling. Cases with ulcer/infiltrate size ≥2 mm in size, presence of hypopyon, or had fortified antibiotics prescribed were classified as severe keratitis. Univariate and multivariable logistic regression was used to assess association of CL variables with the occurrence of bacterial keratitis as well as occurrence of severe disease among the cases only.

Results:
Compared with the control cohort, cases were older (mean age 45.6 vs. 38.9 years), had more males (42.5% vs. 23.6%), and had more current or former smokers (41.7% vs. 12.9%). There were no significant associations between CL material (silicone hydrogel vs. not) or CL type (daily disposable vs. reusable) and occurrence of bacterial keratitis. More than two-thirds (67.3%) of cases were classified as severe. Among cases only, univariate analyses found current smokers to have increased risk of severe disease (OR=2.87; 95% CI 1.13–7.26, P=0.03). Adjusting for age, sex, and smoking among the cases only, daily disposable lenses were protective against severe disease (OR=0.32; 95% CI 0.11–0.89, P=0.03). Reusable lenses increased risk of severe microbial keratitis between 3.0- and 4.4-fold compared with compliant daily disposability.

Discussion/Conclusion:
Compared with a high-risk control cohort, no specific lens factors were associated with occurrence of CL-associated bacterial keratitis. Among cases only, current smokers and patients wearing reusable lenses are at increased risk of severe keratitis. Daily disposable lenses were protective even when noncompliance to daily disposability was considered.
Long-term follow-up of Bonebridge BCI 601 implantation in microtia patients with aural atresia: Acoustic and subjective benefits
Authors: Yeh Kuan-Ting , Ho Valerie Wai-Yee , Chen Tai-Yu , Tu Junior Chun-Yu , Lin Hsiao-Yun , Chan Kai-Chieh 
Published: September 2024

Background:
This study evaluated the long-term acoustic and subjective outcomes of Bonebridge bone conduction implant (BCI) 601 implantation in Taiwanese patients with microtia and aural atresia (AA).

Methods:
A total of 41 microtia patients (28 males and 13 females; 26 with bilateral AA and 15 with unilateral AA) who received Bonebridge BCI 601 implantation between December 2014 and March 2021 at Chang Gung Memorial Hospital, Linkou, Taiwan, were included in this retrospective study. Acoustic outcomes assessed included functional hearing gain (FHG), speech reception threshold (SRT), and word recognition score (WRS), were assessed. Subjective outcomes were assessed using the Chinese versions of four questionnaires: the Abbreviated Profile of Hearing Aid Benefit (APHAB); the Speech, Spatial and Qualities of Hearing Scale; the International Outcome Inventory for Hearing Aids; and the Satisfaction with Amplification in Daily Living.

Results:
The mean age at the time of implantation was 18.9 years (range, 6.3–54.9), and the mean follow-up duration was 6.3 years (range, 2.8–9.1). The mean unaided air conduction pure tone average (PTA4) was 65.3 ± 8.8 decibels (dB) hearing level (HL) and the mean aided sound field PTA4 was 31.1 ± 9.1 dB HL, resulting in a FHG of 34.2 ± 11.7 dB HL (p < 0.05). After Bonebridge implantation, improvements (p < 0.05) in the mean SRT in quiet (from 58.3 ± 7.4 dB HL to 29.4 ± 7.0 dB HL), SRT in noise (from −1.4 ± 7.3 dB signal-to-noise ratio (SNR) to −9.6 ± 5.4 dB SNR), WRS in quiet (from 46.4 ± 26.9% to 93.8 ± 3.1%), and WRS in noise (from 46.7 ± 21.8% to 72.7 ± 19.3%) were found. Additionally, the bilateral AA group exhibited greater SRT and WRS improvements compared to the unilateral AA group (p < 0.05). All mean subscale scores in the four questionnaires showed improvement after Bonebridge implantation, except for the mean aversiveness to sounds subscale score in the APHAB questionnaire.

Conclusion:
Bonebridge BCI 601 implantation provided long-term acoustic and subjective benefits for patients with microtia and AA, particularly those with bilateral AA.
Prenatal and postnatal evaluation of differences of sex development: a user's guide for clinicians and families
Authors: Weidler Erica M. , Ochoa Brielle , van Leeuwen Kathleen 
Published: September 2024

Purpose of review
Differences of sex development (DSD) are a group of chromosomal, gonadal, and anatomic conditions that are not often diagnosed during pregnancy. Families and clinicians need diagnostic guidance that supports all aspects of the care from the prenatal to postnatal period.

Recent findings
Noninvasive prenatal screening (NIPS) is obtained by sampling cell-free fetal DNA in the mother's bloodstream in the first trimester. While its primary purpose is to screen for genetic aneuploidies, it is also used to determine the sex of the fetus. When screening ultrasound shows genital anatomy that is discordant with the sex determination by NIPS, a DSD workup is warranted. The use of this relatively new screening tool may result in a higher number of prenatal referrals than in the past.

Summary
This review summarizes suggested prenatal counseling, neonatal management, and postnatal workup of the most common DSD diagnoses. All of these diagnoses are rare, but the common features that families face are addressed with particular emphasis on psychosocial support and a measured shared decision-making approach.
Practical considerations in diagnosing inborn errors of immunity according to the Middle East and North Africa guidelines
Authors: Kulhas Celik Ilknur , Azizi Gholamreza , Artac Hasibe 
Published: September 2024

Purpose of review
The rate of inborn errors of immunity (IEI) in the Middle East and North Africa (MENA) region is generally higher than in other parts of the world. IEI patients in MENA exhibit more severe disease phenotypes. One of the most important reasons for this is delayed diagnosis. In this review, we examine issues pertinent to primary, secondary, and tertiary physicians in diagnosing IEI in children and discuss the key points for pediatricians according to the MENA guideline.

Recent findings
Protocols and stepwise approaches designed by a panel of clinical immunologists included in the MENA-IEI registry network can help physicians facilitate the diagnosis of patients with IEI by providing recommendations. These recommendations for diagnostic approaches improve the care of patients within the MENA region and can also be applied to IEI patients in other parts of the world other regions.

Summary
Physicians in the MENA region should be aware of IEI, obtain a detailed family history, request tests that can be ordered in primary care when IEI is suspected, and refer patients to clinical immunologists without delay. Primary and secondary care physicians should be aware that patients with IEI may present with noninfectious manifestations and increased infection frequency, severity, and atypical infections.
Genetic disease amongst the Plain community
Authors: Mascia Katherine L. 
Published: September 2024

Purpose of review
The purpose of this review is to highlight recent genetic studies of the Amish and Mennonite (Plain) communities. For decades, the study of genetically isolated populations has improved our understanding and management of genetic diseases that affect all populations.

Recent findings
Major themes of current genetic research of the Amish and Mennonites include new causative gene and new candidate gene discovery, phenotype expansion of previously identified genetic disease, and a target for AAV9-mediated gene therapy. Additionally, several genome-wide association studies (GWAS) examining complex traits such as dementia, cardiometabolic disease, and age-related macular degeneration have been conducted. Finally, clinically relevant studies of attitudes of the Plain community towards genetic testing and telemedicine, as well as reviews of and management suggestions for the Amish variants of propionic acidemia and APOB-associated familial hypercholesterolemia have been recently published.

Summary
Recent genetic studies of the Plain community continue to highlight the value of studying isolated populations to propel genetic disease discovery and treatment. Additionally, population-specific polygenic risk scores are needed for underrepresented and minority populations, to avoid exacerbating disparities in medical genetics care. Finally, it is important for clinicians to develop management guidelines for variants common in this rapidly growing population, such as propionic acidemia.
Echocardiographic strain imaging in the pediatric heart: clinical value and utility in decision making
Authors: Martinez John P. , Ganieva Gulnigor , Harrington Jamie K. 
Published: September 2024

Purpose of review
Speckle tracking echocardiography (STE)-derived measures of myocardial mechanics, referred to herewithin as strain measurements, directly assess myocardial contractility and provide a nuanced assessment of ventricular function. This review provides an overview of strain measurements and their current clinical value and utility in decision making in pediatric cardiology.

Recent findings
Strain measurements are advancing understanding of how cardiac dysfunction occurs in children with acquired and congenital heart disease (CHD). Global strain measurements can detect early changes in cardiac function and are reliable methods of serially monitoring systolic function in children. Global strain measurements are increasingly reported in echocardiographic assessment of ventricular function alongside ejection fraction. Research is increasingly focused on how strain measurements can help improve clinical management, risk stratification, and prognostic insight. Although more research is needed, preliminary studies provide hope that there will be clinical benefit for strain in pediatric cardiology management.

Summary
Strain measurements provide a more detailed assessment of ventricular function than conventional measures of echocardiographic functional assessment. Strain measurements are increasingly being used to advance understanding of normal and abnormal myocardial contractility, to increase sensitivity to detect early cardiac dysfunction, and to improve prognostic management in children with acquired and CHD.
Hereditary hemorrhagic telangiectasia – pediatric review
Authors: Iacobas Ionela , Hammill Adrienne M. 
Published: September 2024

Purpose of review
Hereditary hemorrhagic telangiectasia (HHT) diagnostic and management approach for pediatrics underwent significant advances over the last couple of years.

Recent findings
In 2020, new guidelines for HHT were published that included a pediatric section thus attracting special focus into the childhood presentation.

Summary
Curacao criteria are specific, but not sensitive enough in children. Genetic testing is encouraged for all family members even if asymptomatic. Standardized scoring for epistaxis is strongly encouraged, as it allows monitoring and can stratify therapeutic approaches. Early screening for pulmonary and brain visceral arteriovenous malformations (AVMs) in pediatric patients with confirmed genetic alterations of HHT should be instituted. Graded trans-esophageal echocardiogram with agitated saline contrast can be used as screening method for pulmonary AVMs. As pulmonary AVMs can develop throughout lifetime, guidelines recommend repeated screening even in asymptomatic patients at least every 5 years. Signs of stroke in childhood are more subtle than in adults. Cerebral imaging in early childhood can identify brain AVMs that may benefit from early intervention. Embolization of high-risk pulmonary and cerebral AVMs should be performed at specialized centers even at pediatric age. One or two classic HHT telangiectasia can be considered diagnostic in children. Antibiotic prophylaxis with dental procedures continues to be recommended.
Purulent pericarditis and cardiac tamponade in HIV: a case report on a dreaded complication of Streptococcus pneumoniae
Authors: Wagle Laxman , Basnyat Parmartha , Timshina Anuj , Regmi Rashmita , Sherpa Lakpa Diku , Poudel Sishir 
Published: September 2024

Introduction and importance:
Purulent pericarditis is an uncommon complication of Streptococcus pneumoniae, which commonly occurs in an immunocompromised state such as HIV and can lead to life-threatening complications such as cardiac tamponade and potentially death if untreated. Early identification, pericardiocentesis, and general measures such as antibiotics and anti-inflammatory medications can be life-saving.

Case presentation:
The authors present a case of a 64-year-old male with HIV who presented with clinical symptoms suggestive of pericarditis. Chest imaging revealed multifocal airspace diseases and moderate pericardial effusion. He had worsening lactic acidosis, and bedside point-of-care ultrasound showed pericardial effusion with features suggestive of cardiac tamponade. His lactic acidosis improved with emergency pericardiocentesis. Blood and pericardial fluid cultures revealed Streptococcus pneumoniae. He was further treated with intravenous antibiotics, colchicine, and ibuprofen.

Clinical discussion:
Although Streptococcus pneumoniae is a common etiology of community-acquired pneumonia (CAP), it has not been cited as the leading cause of pericarditis or pericardial effusion. In immunocompromised patients, it is necessary to consider a broad differential diagnosis as an etiology of acute chest pain, as it may be challenging to differentiate pleuritic and pericarditic chest pain from clinical presentation only. Moreover, infectious etiology of acute pericarditis and pericardial effusion should be considered in this patient population, especially those with HIV. At the same time, it is crucial to promptly identify and treat cardiac tamponade to prevent further deterioration.

Conclusion:
This case provides insight into the diagnosis and management of CAP and its potential complication of purulent pericarditis and cardiac tamponade in immunocompromised patients.
Expression profiles of urine exosomal tRNA-derived small RNAs and their potential roles in calcium oxalate stone disease
Authors: Hong Sen-Yuan , Miao Lin-Tao , Yang Yuan-Yuan , Wang Shao-Gang 
Published: September 2024

Background and objective:
Exosomes have been confirmed to be implicated in the pathogenesis of calcium oxalate (CaOx) stones. tRNA-derived small RNAs (tsRNAs) are among the oldest small RNAs involved in exosome-mediated intercellular communication, yet their role in kidney stones remains unexplored. This pilot study aimed to identify differentially expressed tsRNAs (DEtsRNAs) in urine exosomes between CaOx stone patients and healthy controls and explore their potential roles in nephrolithiasis.

Method:
First-morning urine samples were collected from three CaOx stone patients and three healthy controls. Urinary exosomes were isolated and analyzed by high-throughput sequencing to generate the expression profiles of tsRNAs and detect DEtsRNAs. Predicted target genes of DEtsRNAs were subjected to functional enrichment analysis. The authors also combined the public dataset GSE73680 to investigate how DEtsRNAs were related to stone formation.

Results:
Four DEtsRNAs were significantly upregulated in CaOx stone patients compared to healthy controls. tRF-Lys-TTT-5005c was the most elevated, followed by tRF-Lys-CTT-5006c, tRF-Ala-AGC-5017b, and tRF-Gly-CCC-5004b. Bioinformatics analysis indicated that these four types of DEtsRNAs might serve distinct biological functions. Combined with data mining from the public dataset GSE73680, the authors assumed that exosomes carrying tRF-Lys-TTT-5005c and tRF-Lys-CTT-5006c could inhibit the expression of SMAD6, FBN1, and FZD1, thereby activating the BMP signaling pathway, which might induce an osteogenic-like transformation in target cells, resulting in the formation of Randall’s plaques and CaOx stones.

Conclusion:
The authors’ findings shed light on the potential roles of tsRNAs in the pathogenesis of CaOx stone disease, highlighting exosomal DEtsRNAs as promising diagnostic biomarkers and therapeutic targets in nephrolithiasis.
Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report
Authors: Bohara Sujan , Bhattarai Sanjeet , Khadka Manoj , Ghimire Deepak , Karki Samikshya , Poudel Nahakul , Aryal Gopi , Dhakal Sunil S. 
Published: September 2024

Introduction and importance:
Gaucher disease is a rare autosomal recessive lysosomal storage disorder marked by a substantial reduction in beta-glucocerebrosidase activity. Historically, supportive treatments such as splenectomy and orthopedic interventions were employed, whereas recent advances have led to the approval of Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) as therapeutic options.

Case presentation:
The authors present the case of a 61-year-old female with chronic abdominal pain, abdominal fullness, pancytopenia, and hepatosplenomegaly, all indicative of Gaucher’s disease, later confirmed by histopathological examination. The patient was informed about newer treatment options like ERT and SRT, as well as the traditional approach of splenectomy. However, due to financial constraints, she opted for splenectomy in conjunction with conservative management.

Discussion:
Gaucher disease is defined by a deficiency of glucocerebrosidase, leading to the accumulation of Gaucher cells (pathognomonic of the disease), particularly in the spleen, liver, bone marrow, and lungs. Type 1 Gaucher disease (GD1) can manifest at any age, from childhood to late adulthood. Definitive diagnosis is confirmed by reduced beta-glucocerebrosidase activity. Traditionally, treatment options for GD1 have been supportive, including splenectomy, blood transfusions, and orthopedic procedures. However, SRT and ERT, though effective, remain prohibitively expensive and often inaccessible in low-resource settings.

Conclusion:
Early diagnosis of Gaucher disease is challenging due to its rarity and should be considered in patients presenting with hepatosplenomegaly, pancytopenia, and low glucocerebrosidase activity.
Pediatric Off-Road Vehicle Injuries
Authors: Solano Mitchell A. , Gilbert Gunner R. , Krishnan Akshay R. , Siegel Eric R. , Morell Sean M. 
Published: September 2024

Objectives
Side-by-side (SXS) and all-terrain vehicles (ATVs) are different off-road vehicles (ORVs) but often categorized together in the literature. We hypothesized pediatric upper extremity (UE) fracture patterns and injury severity scores (ISS) differ between ORV types.

Methods
The authors' home-state trauma repository identified 157 pediatric patients aged 0 to 17 years with UE fractures after ORV accidents during 2011–2021. ORV injuries, fracture type, and procedures were identified using International Classification of Diseases, 9th Revision and 10th Revision coding followed by manual chart review or phone calls. We identified specific ORV type, driver/passenger status, and restraint use to compare differences between fracture characteristics, number of surgeries, and ISS. Groups were compared for differences at P < 0.05 significance.

Results
Among 157 ORV injuries, 75 resulted from ATVs (48%), 50 SXSs (32%), and 32 from all other vehicles (20%). Average age was 12 years, and 49% (n = 77) required surgery. SXS injuries had significantly higher open fracture rates (42%, n = 21) compared with ATVs (7%, n = 5) and all other ORV types (16%, n = 5; P < 0.0001). Seventy percent of fractures (n = 35) sustained after SXS accidents required surgery compared with 41% (n = 31) for ATVs and 34% (n = 11) for all other ORV types (P < 0.001). SXS drivers had 71% left-sided injuries, whereas 85% passengers had right-sided injuries (P < 0.0001). Patients younger than 13 years (n = 73) had significantly higher surgery rates (59%) compared with 40% for those 13 years and older (n = 84; P = 0.02). There were no significant differences in mean ± SD ISS between ATV (8 ± 6), SXS (8 ± 6), and other vehicles (7 ± 4; P = 0.34).

Conclusions
UE fractures caused by SXS were more likely to be open and require surgery compared with ATVs and other ORVs. SXS drivers were more likely to sustain left-sided injuries, whereas passengers had significantly higher right-sided injuries. Patients younger than 13 years were more likely to require surgery compared with teenagers.