bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of Arthroscopic Microfracture for Osteochondral Lesions of the Talus With and Without Small and Shallow Subchondral Cysts
Authors: Guo Hao , Yan Haohan , Yan Han , Liu Yijun , Zeng Canjun 
Published: March 2024

Background: Whether arthroscopic microfracture is effective in treating cystic osteochondral lesions of the talus (OLTs) remains controversial. In this study, outcome parameters in patients with small and shallow subchondral cysts are compared to patients without cysts with the hypothesis that equivalent outcomes may be found after primary microfracture treatment. Methods: From 2018 to 2021, all 50 OLTs treated with arthroscopic microfracture in the authors’ hospital were retrospectively reviewed for eligibility. Single unilateral symptomatic lesions were included and divided into the cyst and noncyst groups, whereas kissing lesions and arthritic lesions were excluded. Numeric rating scale (NRS) scores, American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot scores, Tegner activity level scores, Foot and Ankle Ability Measure (FAAM) scores, and magnetic resonance (MR) imaging results were used to describe outcomes. Results: A total of 35 patients were included, 16 in the cyst group and 19 in the noncyst group. The patient characteristics were similar between the 2 groups ( P > .05). In the cyst group the average cysts depth was 5.0 ± 1.3 mm. After a mean follow-up duration of 36.2 ± 10.2 months, no significant differences were found between the 2 groups in NRS, AOFAS, FAAM, or Tegner score improvement ( P > .05). Three patients (19%) in the cyst group had no NRS score improvement. Conclusion: OLTs with small and shallow subchondral cysts can be treated with arthroscopic microfracture and achieve similar outcomes as noncystic lesions. A few cystic lesions may not respond to microfracture treatment. Level of Evidence: Level III, retrospective comparative study.
Revision Total Ankle Arthroplasty Using the INBONE II System
Authors: Wu Kevin A. , Anastasio Albert T. , Lee Dongoh , Kim Billy I. , Valan Bruno , Krez Alexandra N. , Adams Samuel B. , Nunley James A. , Easley Mark E. , DeOrio James K. 
Published: March 2024

Background: The utilization of total ankle arthroplasty (TAA) for managing severe ankle osteoarthritis has become increasingly common, leading to a higher occurrence of revision TAA procedures because of failure of primary TAA. This study aims to examine the clinical results associated with revision TAA using the INBONE II system. Given the growing number of TAA revision procedures and a focus on motion-preserving salvage options, we evaluated our early experience with revision TAA. Methods: A retrospective analysis was conducted on a group of 60 presumed noninfected patients who underwent revision TAA with the INBONE II system. Detailed information was collected on patient demographics, implant characteristics, concurrent procedures, and complications. The implant survival was estimated using Kaplan-Meier analysis. Results: The study revealed high complication rates but generally fair clinical outcomes for revision TAA using the INBONE II system. Complications were observed in 22 patients (36.7%), including persistent pain (n = 6), nerve injury/impingement (n = 5), infection (n = 3), fracture (n = 3), implant failure (n = 3), impaired wound healing (n = 2), and osteolysis (n = 3). The 3-year survivorship rate from reoperation was 92.0% (82.7%-100.0%) whereas the 3-year survivorship rate from major complications was 90.4% (80.8%-100.0%). Conclusion: We report high complication rates but generally fair clinical results for revision TAA utilizing the INBONE II system.
Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation
Authors: Hassanpoor Narges , Ebrahimiadib Nazanin , Riazi-Esfahani Hamid , Moghaddasi Afrooz , Suri Fatemeh 
Published: March 2024

Background To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family. Design Interventional family study. Results Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness. Conclusion Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.
Mydriasis for retinopathy of prematurity screening in Europe: A cross-sectional online survey
Authors: Seliniotaki Aikaterini K. , Bougioukas Konstantinos I. , Lithoxopoulou Maria , Moutzouri Stella , Diamanti Elisavet , Ziakas Nikolaos , Mataftsi Asimina 
Published: March 2024

Purpose To compile real-time data on the preferred mydriasis practice patterns for retinopathy of prematurity (ROP) screening in Europe. Methods A cross-sectional online survey was conducted from December 2022 to January 2023, using a self-report online questionnaire which was distributed via email to the members of the European Pediatric Ophthalmological Society and the Greek National ROP Task Force. A six-week period of recruitment was determined, and a reminder email was sent after two weeks. Descriptive statistics were used to explore the data, which was summarized with frequencies and percentages. Results Sixty-six responses were recorded (response rate: 29.5%), representing practices in 55 Neonatal Intensive Care Units from 21 European countries. In 94.5%, the applied mydriatic regimen consists of phenylephrine with at least one muscarinic antagonist, either tropicamide or cyclopentolate. The concentration of phenylephrine ranges from 0.5% to 5%, of tropicamide from 0.25% to 1%, and of cyclopentolate from 0.2% to 1%. The most commonly used regimen (43.6%) contains phenylephrine 2.5% and tropicamide 0.5%, administered either combined or separately. About 54.5% of the reported mydriatic solutions are non-commercial, in-house preparations. Systemic adverse events, including oxygen desaturation, bradycardia and cardiopulmonary arrest were reported in 14.5%. Conclusion There is considerable heterogeneity in the applied mydriatic regimens for ROP screening in Europe, reflecting the absence of universal guidelines. The wide use of in-house preparations underlines the gap in the pharmaceutical industry. Concern should be raised against the wide use of undiluted commercial drugs, that reach adult dose, in the fragile population of preterm infants.
Short term effects of extremely low irradiance photobiomodulation on retinal function, in age related macular degeneration
Authors: Franceschelli Sara , D’Andrea Pierdomenico , Farina Marco , Gallenga Carla Enrica , Grilli Alfredo , Pesce Mirko , Di Donato Andrea , Lucchetta Daniele , Ambrosini Giovanna , Benedetti Stefano , Benedetti Margherita , Lobefalo Lucio 
Published: March 2024

Background recently much studies evidenced the potential role of photo-biomodulation (PBM) in patients affected by Age-related Macular Degeneration (AMD). We designed a new wearable device for self-medication that employs the same broadband red light described in literature, but with extremely low irradiance. Aim to demonstrate the safety and effectiveness of low-fluence light stimulations emitted by a LED source with appropriate wavelengths through our new device in improving short-term visual function in patients affected by severe non neovascular AMD. Materials and methods we prospectively enrolled patients affected by severe non-neovascular AMD with a relative sparing of the foveal region. All the patients were randomly assigned in placebo or in treatment group. The treatment consisted of 10 sessions of 10-min each, using the new device comprised of micro-LEDs that emitted light onto an amorphous support assembled within Metallic eyeglasses. The placebo group blindly underwent the same number of PBM sessions with the micro-LED turned off. Before and after each placebo/treatment sessions all the patients received: optical coherence tomography (OCT), Best-Corrected Visual Acuity (BCVA) and Microperimetry (MP). Results no significant differences in the anatomical parameters were observed in the two groups. The MP mean sensitivity and the central visual function both far and near significantly improved in the treated group (respectively p < 0.001, p < 0.001) Conclusions our pivotal demonstrated that the LED PBM delivered through our new device is a safe and effective tool for improving short-term visual function in patients affected by severe non-neovascular AMD.
Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children
Authors: Khan Sabeen Abid , Fakih Misbah , Taufiq Nida , Ahmerin Afaaf , Bangash Asfand , Iqbal Malik Munir 
Published: March 2024

Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.
Revisiting the Recommended Duration of Interviews Conducted by Mobile Phone in Low- and Middle-income Countries: A Randomized Trial in Malawi
Authors: Torrisi Orsola , Banda Jethro , Reniers Georges , Helleringer Stéphane 
Published: March 2024

Guidelines for conducting surveys by mobile phone calls in low- and middle-income countries suggest keeping interviews short (<20 minutes). The evidence supporting this recommendation is scant, even though limiting interview duration might reduce the amount of data generated by such surveys. We recruited nearly 2,500 mobile phone users in Malawi and randomly allocated them to 10-, 20-, or 30-minute phone interviews, all ending with questions on parental survival. Cooperation was high in all groups, and differences in completion rates were minimal. The extent of item nonresponse, age heaping, and temporal displacement of deaths in data on parental survival generally did not vary between study groups, but reports of maternal age at death were more reliable in longer interviews. Recommendations about the duration of mobile phone interviews might be too restrictive. They should not preclude additional modules, including ones on mortality, in mobile phone surveys conducted in LMICs.
Single-Incision Laparoscopic Cholecystectomy Using a Set of Novel Needle Instruments
Authors: Cui Zhengmin , Zhang Duoqiang , Tian Mingguo , Wang Yafei , Yang Xiuping 
Published: March 2024

Background Although the technique of single-incision laparoscopic cholecystectomy (SILC) has improved remarkably, problems such as limited exposure and instrument collision persist. We describe a new SILC technique that uses a set of specially-designed needle instruments. Methods Fifty-six patients with benign gallbladder disease underwent SILC using the newly-designed needle assembly instruments (NAIs). The NAIs comprise an needle assembly exposing hook for operative field exposure and an needle assembly electrocoagulation hook for dissection. During the operation, the NAIs were assembled and disassembled before and after gallbladder removal within the abdominal cavity. The operative efficacy and postoperative complications of this procedure were evaluated. Results SILC was completed successfully in 52 cases, and four cases (7.14%) required an additional trocar. There were no conversions to open surgery. The mean operative time was 48.2 ± 21.8 min, and the mean operative bleeding volume was 10.5 ± 12.5 mL. Minor postoperative complications occurred in 3 cases, including 2 cases of localized fluid accumulation in the abdominal cavity and 1 case of pulmonary infection, and all of them recovered after conservative treatment. There was no occurrence of bile leak, abdominal bleeding, bile duct injury and incisional hernia. The medical cost of each case was saved by approximately $200. The abdominal scars produced by the needle instruments were negligible. Conclusion NAIs can make SILC safer, more convenient, and less expensive.
Know DBS: patient perceptions and knowledge of deep brain stimulation in Parkinson’s disease
Authors: Salinas Meagen , Yazdani Umar , Oblack Austin , McDaniels Bradley , Ahmed Nida , Haque Bilal , Pouratian Nader , Chitnis Shilpa 
Published: March 2024

Introduction: Deep brain stimulation (DBS) is an established therapy for Parkinson’s disease (PD) that can significantly improve motor symptoms and quality of life. Despite its effectiveness, little is known about patient perceptions of DBS. Objectives: To evaluate patient perceptions of DBS for PD, focusing on understanding, satisfaction, and factors influencing their outlook. This study aims to enhance patient education and counseling by identifying key determinants of patient perceptions. Design: A patient survey. Methods: We surveyed 77 PD patients who had undergone DBS at multiple centers using a comprehensive questionnaire. The questionnaire included questions on demographic information, disease history, and detailed understanding about the indications for DBS, side effects, outlook, and other common misconceptions. We summarize data using measures of central tendency and dispersion appropriate to the data type (categorical, continuous, proportional) and model relationships among variables using fractional and linear regression methods. Results: Participants had a median age of 66 years, were predominantly male (66%), Caucasian (90%), well-educated (79% with at least college degrees), and had a disease duration of greater than 5 years (97%). They conveyed good understanding of the signs and symptoms addressed by DBS across the motor and non-motor domains and associated side effects. Regression analysis identified age, disease duration, and education level as key determinants of patient understanding and outlook of DBS. Conclusion: Our study provides a detailed understanding of patient perceptions of DBS for PD, including the benefits, challenges, and misconceptions. Our findings underscore the importance of identifying the causes of disparities in patient knowledge and perceptions regarding DBS to tailor patient counseling and ensure optimal treatment outcomes.
Testing an implementation package in a housing skills training pilot for homeless-experienced persons with serious mental illness
Authors: Gabrielian Sonya , Hamilton Alison B. , Gelberg Lillian , Koosis Ella R. , Hoffmann Lauren , Carlson David M. , Young Alexander S. 
Published: March 2024

Background Evidence-based practices (EBPs) improve housing and health for persons who have experienced homelessness with serious mental illness (PEH-SMI) but are challenging to implement. We tested a strategy to support pilot implementation of a 12-session housing skills training intervention for PEH-SMI, tailored from effective social skills training interventions. We aimed to optimize the implementation strategy and intervention prior to an implementation trial. Method We provided training and technical assistance to nine providers to support pilot implementation of this intervention to six groups of PEH-SMI ( n = 35) engaged in VA Greater Los Angeles’ homeless services. We used scales and semi-structured interviews with 14 PEH-SMI and all interventionists to inform implementation strategy adaptations, identify factors that impacted implementation, and assess perceptions of the intervention. Attendance was tracked and we observed a random sample of each interventionist's groups to assess treatment fidelity. Results Interventionists perceived the implementation strategy and the intervention favorably. However, interventionists often lacked physical space, staff, and resources (e.g., computers) to conduct the intervention. Interventionists found the content valuable for participants and a few suggested that group engagement should be a prerequisite for obtaining housing services. PEH-SMI were interested in the intervention's content and receptive to the group-based format. Participants attended a mean of 4 ± 3/12 groups; all groups observed had acceptable fidelity. Problems with intervention retention were described, suggesting challenges maintaining group participation when participants transitioned between VA homeless services. Conclusions To support the implementation of an EBP for PEH-SMI in homeless programs, these data suggest the value of training/technical assistance and strategies that enhance program-level buy-in to address resource concerns. Intervention adaptations, e.g., using a drop-in, open group format, in community-based settings that are easily accessible to PEH-SMI, may also increase adoption. This project was registered as “Improving Housing Outcomes for Homeless Veterans” Trial registration NCT03646149, registered 8/24/2018.
Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children
Authors: Escherich Carolin S. , Chen Wenan , Li Yizhen , Yang Wenjian , Nishii Rina , Li Zhenhua , Raetz Elizabeth A. , Devidas Meenakshi , Wu Gang , Nichols Kim E. , Inaba Hiroto , Pui Ching-Hon , Jeha Sima , Camitta Bruce M. , Larsen Eric , Hunger Stephen P. , Loh Mignon L. , Yang Jun J. 
Published: March 2024

Abstract
Biallelic mutation in the DNA-damage repair gene NBN is the genetic cause of Nijmegen breakage syndrome, which is associated with predisposition to lymphoid malignancies. Heterozygous carriers of germ line NBN variants may also be at risk for leukemia development, although this is much less characterized. By sequencing 4325 pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL), we systematically examined the frequency of germ line NBN variants and identified 25 unique, putatively damaging NBN coding variants in 50 patients. Compared with the frequency of NBN variants in gnomAD noncancer controls (189 unique, putatively damaging NBN coding variants in 472 of 118 479 individuals), we found significant overrepresentation in pediatric B-ALL (P = .004; odds ratio, 1.8). Most B-ALL–risk variants were missense and cluster within the NBN N-terminal domains. Using 2 functional assays, we verified 14 of 25 variants with severe loss-of-function phenotypes and thus classified these as nonfunctional or partially functional. Finally, we found that germ line NBN variant carriers, all of whom were identified as heterozygous genotypes, showed similar survival outcomes relative to those with wild type status. Taken together, our findings provide novel insights into the genetic predisposition to B-ALL, and the impact of NBN variants on protein function and suggest that heterozygous NBN variant carriers may safely receive B-ALL therapy. These trials were registered at www.clinicaltrials.gov as #NCT01225874, NCT00075725, NCT00103285, NCI-T93-0101D, and NCT00137111.
Acute pulmonary injury in hematology patients supported with pathogen-reduced and conventional platelet components
Authors: Wheeler Allison P. , Snyder Edward L. , Refaai Majed , Cohn Claudia S. , Poisson Jessica , Fontaine Magali , Sehl Mary , Nooka Ajay K. , Uhl Lynne , Spinella Philip C. , Fenelus Maly , Liles Darla , Coyle Thomas , Becker Joanne , Jeng Michael , Gehrie Eric A. , Spencer Bryan R. , Young Pampee , Johnson Andrew , O’Brien Jennifer J. , Schiller Gary J. , Roback John D. , Malynn Elizabeth , Jackups Ronald , Avecilla Scott T. , Liu Kathy , Bentow Stanley , Varrone Jeanne , Benjamin Richard J. , Corash Laurence M. 
Published: March 2024

Abstract
Patients treated with antineoplastic therapy often develop thrombocytopenia requiring platelet transfusion, which has potential to exacerbate pulmonary injury. This study tested the hypothesis that amotosalen-UVA pathogen–reduced platelet components (PRPCs) do not potentiate pulmonary dysfunction compared with conventional platelet components (CPCs). A prospective, multicenter, open-label, sequential cohort study evaluated the incidence of treatment-emergent assisted mechanical ventilation initiated for pulmonary dysfunction (TEAMV-PD). The first cohort received CPC. After the CPC cohort, each site enrolled a second cohort transfused with PRPC. Other outcomes included clinically significant pulmonary adverse events (CSPAE) and the incidence of treatment-emergent acute respiratory distress syndrome (TEARDS) diagnosed by blinded expert adjudication. The incidence of TEAMV-PD in all patients (1068 PRPC and 1223 CPC) was less for PRPC (1.7 %) than CPC (3.1%) with a treatment difference of –1.5% (95% confidence interval [CI], –2.7 to –0.2). In patients requiring ≥2 PCs, the incidence of TEAMV-PD was reduced for PRPC recipients compared with CPC recipients (treatment difference, –2.4%; 95% CI, –4.2 to –0.6). CSPAE increased with increasing PC exposure but were not significantly different between the cohorts. For patients receiving ≥2 platelet transfusions, TEARDS occurred in 1.3% PRPC and 2.6% CPC recipients (P = .086). Bayesian analysis demonstrated PRPC may be superior in reducing TEAMV-PD and TEARDS for platelet transfusion recipients compared with CPC recipients, with 99.2% and 88.8% probability, respectively. In this study, PRPC compared with CPC demonstrated high probability of reduced severe pulmonary injury requiring assisted mechanical ventilation in patients with hematology disorders dependent on platelet transfusion. This trial was registered at www.ClinicalTrials.gov as #NCT02549222.