bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lipoprotein (a) in familial hypercholesterolaemia
Authors: Durrington Paul N. , Bashir Bilal , Bhatnagar Deepak , Soran Handrean 
Published: August 2022

Purpose of review
The role of lipoprotein (a) in atherogenesis has been the subject of argument for many years. Evidence that it is raised in familial hypercholesterolaemia has been disputed not least because a mechanism related to low density lipoprotein (LDL) receptor mediated catabolism has been lacking. Whether lipoprotein (a) increases the already raised atherosclerotic cardiovascular disease (ASCVD) risk in familial hypercholesterolaemia is also more dubious than is often stated. We review the evidence in an attempt to provide greater clarity.

Recent findings
Lipoprotein (a) levels are raised as a consequence of inheriting familial hypercholesterolaemia. The mechanism for this is likely to involve increased hepatic production, probably mediated by PCSK9 augmented by apolipoprotein E. The extent to which raised lipoprotein (a) contributes to the increased ASCVD risk in familial hypercholesterolaemia remains controversial.
Unlike, for example, statins which are effective across the whole spectrum of LDL concentrations, drugs in development to specifically lower lipoprotein (a) are likely to be most effective in people with the highest levels of lipoprotein (a). People with familial hypercholesterolaemia may therefore be in the vanguard of those in whom theses agents should be exhibited.

Summary
Inheritance of familial hypercholesterolaemia undoubtedly increases the likelihood that lipoprotein (a) will be raised. However, in familial hypercholesterolaemia when ASCVD incidence is already greatly increased due to high LDL cholesterol, whether lipoprotein (a) contributes further to this risk cogently needs to be tested with drugs designed to specifically lower lipoprotein (a).
A Brief Psychoeducation Intervention to Prevent Rehospitalization in Severe Mental Disorder Inpatients
Authors: Riera-Molist Núria , Riera-Morera Bruna , Roura-Poch Pere , Santos-López Josep Manel , Foguet-Boreu Quintí 
Published: August 2022

Abstract
The efficacy of medium- to long-term psychoeducation in preventing relapse and hospitalization in people with severe mental disorders (SMDs) is robust. However, the evidence is inconclusive in brief interventions and individual modalities. The aim of this randomized clinical trial in SMD inpatients is to analyze the efficacy of a brief psychoeducation intervention added to treatment-as-usual, in improving the rehospitalization rate at 3 and 6 months after discharge. Fifty-one SMD inpatients were randomized to the intervention (n = 24) or control group (n = 27). Low insight and poor medication adherence were the most prevalent risk factors at admission. No significant differences were observed in the rehospitalization rate at 3 and 6 months after discharge. On the overall sample, the number of previous hospitalizations was a rehospitalization predictor at 3 (odds ratio [OR], 1.25; 95% confidence interval [CI], 1.01–1.56; p = 0.04) and 6 months (OR, 1.85; 95% CI, 1.17–2.91; p = 0.009). SMD people require multimodal and persistent approaches focused on insight and medication adherence to prevent rehospitalizations.
The Effect of Internet Addiction and Emotion Regulation on Trauma Reactions During the COVID-19 Pandemic in Adolescents With Anxiety Disorder
Authors: Kuz Merve , Uçar Halit Necmi , Çiçek Zekey Özlem , Çetin Fatih Hilmi , Türkoğlu Serhat 
Published: August 2022

Abstract
In this study, we examined the relationship among trauma reactions, anxiety severity, Internet addiction (IA), and emotion regulation difficulties during the COVID-19 pandemic in adolescents with anxiety disorders. The sample of study consisted of 63 adolescents aged 12 to 18 years who were diagnosed with AD and their parents. IA scores and emotional regulation difficulties were significantly higher in the group with pathological trauma reactions than the group exhibiting nonpathological trauma reactions. The trauma scores of adolescents with AD were correlated with IA, emotional regulation difficulties, and anxiety scores. The results of mediation analysis found that IA was the full mediating factor in the relationship between anxiety and trauma scores and a partial mediating factor in the relationship between emotional regulation difficulties and trauma scores. As a result, monitoring adolescents' Internet use not exceeding healthy levels and developing and strengthening emotion regulation skills can help protect against trauma during the COVID-19 pandemic.
A Retrospective Case Series Study on a Minimally-Invasive Ultrasound-Guided First Dorsal Compartment Release Technique for Refractory De Quervain Tenosynovitis
Authors: Beidleman Matthew B. , Colberg Ricardo E. , Beason David P. , Fleisig Glenn S. 
Published: August 2022

Abstract

Objective
To evaluate the outcomes of patients treated with a novel minimally-invasive complete release of the first dorsal compartment percutaneously under ultrasound guidance using an 18-gauge needle with an 18 blade at the tip.

Design
Retrospective case series. Nine adults (ten wrists) were included in the study of this technique. All patients had failed conservative care, had tenderness to palpation over the first dorsal compartment, a positive Finklestein Test, and confirmed tenosynovitis with ultrasound imaging prior to the procedure. The main outcome measures were reduction in pain as determined by the numeric rating scale (NRS) and improvement of function determined by the Nirschl Phase scale at both short and long term follow up.

Results
There was 100% follow-up with mean follow-up occurring at 23.1 months (9-42, SD 9.8). From pre-procedure to follow-up, NRS pain decreased from 4.1 (SD 2.5) to 0.0 (SD 0.0) (p < 0.001), and Nirschl Phase improved from 2.5 (SD 1.9) to 0.2 (SD 0.4) (p = 0.03). No patients required revision open release surgery or suffered neurovascular complications.

Conclusion
This technique resulted in significant improvement of pain and function for all patients and no short or long-term neurovascular complications were seen.
SINGLE-CENTER ONCOLOGIC OUTCOME OF FAT TRANSFER FOR BREAST RECONSTRUCTION FOLLOWING MASTECTOMY IN 1000 CANCER CASES – A MATCHED CASE-CONTROL STUDY
Authors: Sorotos Michail , Paolini Guido , D’Orsi Gennaro , Firmani Guido , Timmermans Floyd Wilhelmus , di Pompeo Fabio Santanelli 
Published: August 2022

Background:
Autologous fat transfer (AFT) has an important role in breast reconstructive surgery. Nevertheless, Some concerns remain with regards to its oncological safety. We present a single center case-matching study analysing the impact of AFT in cumulative incidence of local recurrences (LR).

Materials and Methods:
From a prospectively maintained database, we identified 902 patients who underwent 1025 breast reconstructions from 2005 to 2017. Data regarding demographics, tumor characteristics, surgery details and follow-up were collected. Exclusion criteria were patients with distant metastases at diagnosis, recurrent tumor or incomplete data regarding primary tumor, patients who underwent prophylactic mastectomies and breast-conserving surgeries. Statistical analysis was done to evaluate the impact of the variables on the incidence of LR. A p-value < 0.05 was considered statistically significant.

Results:
After 1:n case-matching, we selected 919 breasts, out of which 425 (46.2%) patients received at least one AFT session vs 494 (53.8%) control cases. LR had an overall rate of 6.8% and we found LR in 14 (3.0%) AFT cases and 54 (9.6%) controls. Statistical analysis showed that AFT did not increase risk of LR: HR 0.337 (CI 0.173-0.658), p=0.00007. Multivariate analysis identified IDC subtype and lymph node metastases to have an increased risk of local recurrences (HR > 1). Conversely, positive hormonal receptor status was associated with a reduced risk of events (HR < 1)

Conclusions:
AFT was not associated with a higher probability of locoregional recurrence in patients undergoing breast reconstruction therefore it can be safely used for total breast reconstruction or aesthetic refinements.
LEVEL OF EVIDENCE: 3
Long-Term Cancer Recurrence Rates Following Nipple-Sparing Mastectomy: A 10-year Follow-up Study
Authors: Boyd Carter J. , Salibian Ara A. , Bekisz Jonathan M. , Axelrod Deborah M. , Guth Amber A. , Shapiro Richard L. , Schnabel Freya R. , Karp Nolan S. , Choi Mihye 
Published: August 2022

Background:
Despite the increased utilization of nipple-sparing mastectomies (NSM), there is limited data examining long-term cancer recurrence rates in these patients. The objective of this study was to analyze breast cancer recurrence in patients who received therapeutic NSM with a median of 10 years of follow-up.

Methods:
All patients undergoing NSM at a single institution were retrospectively reviewed temporally to obtain a median of 10-years of follow up. Patient demographic factors, mastectomy specimen pathology, and oncologic outcomes were analyzed. Univariate analysis was performed to identify independent risk factors for locoregional recurrence.

Results:
126 therapeutic NSM were performed on 120 patients. The most frequently observed tumor histology included invasive ductal carcinoma (48.4%) and ductal carcinoma in situ (38.1%). Mean tumor size was 1.62 cm. Multifocal or multicentric disease and lymphovascular invasion were present in 31.0% and 10.3% of NSM specimens, respectively. Sentinel lymph node biopsy was performed in 84.9% of NSM and 17.8% were positive. The rate of positive frozen subareolar biopsy was 7.3% (n=82) and permanent subareolar pathology was 9.5% (n=126). The most frequently observed pathologic tumor stages was stage I (44.6%) and stage 0 (33.9%). Incidence of recurrent disease was 3.17% per mastectomy and 3.33% per patient. Upon univariate analysis, no demographic, operative, or tumor-specific variables were independent risk factors for locoregional recurrence.

Conclusions:
Overall recurrence rates are low in patients undergoing NSM at a median follow-up of 10-years. Close surveillance should remain a goal for patients and their providers to promptly identify potential recurrence.
Gambiense human African trypanosomiasis: the bumpy road to elimination
Authors: Hasker Epco , Hope Andrew , Bottieau Emmanuel 
Published: August 2022

Purpose of review
Gambiense human African trypanosomiasis (gHAT), a disease that has killed hundreds of thousands as recently as the 1990s, could be on the verge of elimination or even eradication. This review describes recent developments that give us reasons for optimism as well as some caveats.

Recent findings
New developments in diagnostic and vector control tools, and especially in treatment, make it possible to strive for elimination of transmission of gHAT by 2030, perhaps even eradication.

Summary
Gambiense human African trypanosomiasis is a deadly infectious disease affecting West and Central Africa, South Sudan and Uganda, and transmitted between humans by tsetse flies. The disease has caused several major epidemics, the latest one in the 1990s. Thanks to recent innovations such as rapid diagnostic tests for population screening, a single-dose oral treatment and a highly efficient vector control strategy, interruption of transmission of the causative parasite is now within reach. If indeed gHAT has an exclusively human reservoir, this could even result in eradication of the disease. Even if there were an animal reservoir, on the basis of epidemiological data, it plays a limited role. Maintaining adequate postelimination surveillance in known historic foci, using the newly developed tools, should be sufficient to prevent any future resurgence.
Controversies over the management of infections caused by Amp-C- and ESBL-producing Enterobacterales: what questions remain for future studies?
Authors: Burillo Almudena , Bouza Emilio 
Published: August 2022

Purpose of review
The continuous rise in infections caused by third-generation cephalosporin-resistant Enterobacterales (e.g. extended-spectrum beta-lactamase- or AmpC-producing Enterobacterales ) is a major health concern. Carbapenems are regarded as the antibiotics of choice for the treatment of these infections. However, their indiscriminant use is not without consequences, and has contributed to the emergence of carbapenem-resistant Enterobacterales.
In this review, we discuss the available evidence supporting the use of other betalactams, nonbetalactams and the new betalactams/beta-lactamase inhibitors (BLA/BLI) to treat these infections. We also analyze unresolved issues in this field.

Recent findings
Piperacillin tazobactam (PTZ) was classically recommended as a carbapenem-sparing agent. However, data have emerged against its use and it is now a controversial recommendation. IDSA, European and British guidelines reject the empirical use of PTZ for these pathogens, reserving its use for rare clinical situations.
Other issues that continue to generate debate are the use of extended infusion (3 h) PTZ, the use of older antibiotics, a shortened course of carbapenems and reserving the new BLA/BLI for these infections.

Summary
New treatment strategies should be based on clinical evidence, local epidemiology and the microbiological activity of these drugs.
A Mixed Methods Study Identifying the Competencies of Health Care Simulation Technicians
Authors: Roche Adam F. , Condron Claire M. , Eppich Walter J. , O'Connor Paul E. 
Published: August 2022

Introduction
Health care simulation technicians (HSTs), also referred to as simulation operations specialists, are essential to the delivery of simulation-based education. The HST role draws on a broad range of knowledge, skills, and attitude competencies. However, because of the neoteric nature of the HST role and the ambiguity surrounding the core responsibilities of the position, it has proved difficult to identify the competencies required to perform this role successfully. This study aims to identify the knowledge, skills, and attitude competencies required by HSTs.

Methods
A mixed methods approach was used in this study. Data were collected from (1) online searches of HST job descriptions and (2) semistructured interviews about the competencies required by HSTs with 10 HSTs, 10 health care simulation educators, and 10 health care simulation center managers/director. The data from the job descriptions and interviews were analyzed using thematic analysis, using a framework method to guide the coding.

Results
A total of 59 competencies were identified from the job descriptions and 65 competencies from the interviews. This analysis resulted in the identification of 9 competency domains: 3 knowledge domains (technical, clinical, and pedagogic), 4 skills domains (resourcefulness, pedagogic, team, and technical), and 2 attitudes domains (professional and “can-do” mentality).

Conclusions
The identification of the competencies required by HSTs will support the selection of candidates with the attributes that will allow them to be successful in this role and guide continuous professional development opportunities for current and future HSTs.
Variation in Complications and Mortality According to Infant Diagnosis
Authors: Mehl Steven C. , Portuondo Jorge I. , Fallon Sara C. , Shah Sohail R. , Wesson David E. , Vogel Adam M. , King Alice , Lopez Monica E. , Massarweh Nader N. 
Published: August 2022

Objective:
Investigate patterns of infant perioperative mortality, describe the infant diagnoses with the highest mortality burden, and evaluate the association between types of postoperative complications and mortality in infants.

Background:
The majority of mortality events in pediatric surgery occur among infants (ie, children <1 y old). However, there is limited data characterizing patterns of infant perioperative mortality and diagnoses that account for the highest proportion of mortality.

Methods:
Infants who received inpatient surgery were identified in the National Surgical Quality Improvement Program-Pediatric database (2012–2019). Perioperative mortality was stratified into mortality associated with a complication or mortality without a complication. Complications were categorized as wound infection, systemic infection, pulmonary, central nervous system, renal, or cardiovascular. Multivariable logistic regression was used to evaluate the association between different complications and complicated mortality.

Results:
Among 111,946 infants, the rate of complications and perioperative mortality was 10.4% and 1.6%, respectively. Mortality associated with a complication accounted for 38.8% of all perioperative mortality. Seven diagnoses accounted for the highest proportion of mortality events (40.3%): necrotizing enterocolitis (22.3%); congenital diaphragmatic hernia (7.3%); meconium peritonitis (3.8%); premature intestinal perforation (2.5%); tracheoesophageal fistula (1.8%); gastroschisis (1.4%); and volvulus (1.1%). Relative to wound complications, cardiovascular [odds ratio (OR): 19.4, 95% confidence interval (95% CI): 13.9–27.0], renal (OR: 6.88; 4.65–10.2), and central nervous system complications (OR: 6.50; 4.50–9.40) had the highest odds of mortality for all infants.

Conclusions:
A small subset of diagnoses account for 40% of all infant mortality and specific types of complications are associated with mortality. These data suggest targeted quality improvement initiatives could be implemented to reduce adverse surgical outcomes in infants.
Alpha-cardiac Actin Serum Expression Levels Detect Acute Cellular Rejection in Heart Transplant Patients
Authors: Pérez-Carrillo Lorena , Giménez-Escamilla Isaac , Sánchez-Lázaro Ignacio , Triviño Juan Carlos , Feijóo-Bandín Sandra , Lago Francisca , González-Juanatey José Ramón , Martínez-Dolz Luis , Portolés Manuel , Tarazón Estefanía , Roselló-Lletí Esther 
Published: August 2022

Background.
Given the central role of sarcomeric dysfunction in cardiomyocyte biology and sarcomere alterations described in endomyocardial biopsies of transplant patients with rejection, we hypothesized that the serum expression levels of genes encoding sarcomeric proteins were altered in acute cellular rejection (ACR). The aim of this study is to identify altered sarcomere-related molecules in serum and to evaluate their diagnostic accuracy for detecting rejection episodes.

Methods.
Serum samples from transplant recipients undergoing routine endomyocardial biopsies were included in an RNA sequencing analysis (n = 40). Protein concentrations of alpha-cardiac actin were determined using a specific enzyme-linked immunoassay (n = 80).

Results.
We identified 17 sarcomeric genes differentially expressed in patients with clinically relevant rejection (grade ≥2R ACR). A receiver operating characteristic curve was done to assess their accuracy for ACR detection and found that 6 relevant actins, myosins, and other sarcomere-related genes showed great diagnostic capacity with an area under the curve (AUC) > 0.800. Specifically, the gene encoding alpha-cardiac actin (ACTC1) showed the best results (AUC = 1.000, P < 0.0001). We determine ACTC1 protein levels in a larger patient cohort, corroborating its overexpression and obtaining a significant diagnostic capacity for clinically relevant rejection (AUC = 0.702, P < 0.05).

Conclusions.
Sarcomeric alterations are reflected in peripheral blood of patients with allograft rejection. Because of their precision to detect ACR, we propose sarcomere ACTC1 serum expression levels as potential candidate for to be included in the development of molecular panel testing for noninvasive ACR detection.
Chronic Active Antibody-mediated Rejection in Kidney Transplant Recipients: Treatment Response Rates and Value of Early Surveillance Biopsies
Authors: Aziz Fahad , Parajuli Sandesh , Jorgenson Margaret , Garg Neetika , Manchala Venkata , Yousif Elsadiq , Mandelbrot Didier , Hidalgo Luis , Mohamed Maha , Zhong Weixiong , Djamali Arjang 
Published: August 2022

Background.
There is limited information on the value of short-term invasive and noninvasive monitoring in kidney transplant recipients (KTR) undergoing therapy for chronic active antibody-mediated rejection (cAMR).

Methods.
We describe response rates in patients with cAMR receiving pulse steroids/IVIG ± rituximab 3-mo after index biopsy.

Results.
The study included 82 consecutive KTR. Mean time from transplant to cAMR was 10 y. Mean peritubular capillaritis (ptc), glomerulitis (g), microvascular inflammation (MVI), C4d, and cg Banff scores were 1.1, 2.1, 3.2, 0.2, and 2, respectively. Mean estimated glomerular filtration rate (eGFR) and urine protein creatinine (UPC) ratio were 38 mL/min and 1.6 g/g, respectively. Thirty (37%) patients lost their allograft during the mean follow-up of 2.4 y. In patients treated with pulse steroids/IVIG (n = 41), response rates for eGFR, UPC, donor-specific antibodies (DSAs), and MVI were 27%, 49%, 7%, and 19%, respectively. In the pulse steroids/IVIG/rituximab group, response rates were 66%, 61%, 20%, and 69%, respectively. Univariate analysis identified response in eGFR (HR = 0.03; P = 0.001; 95% CI, 0.004-0.26), UPC (HR = 0.38; P = 0.01; 95% CI, 0.18-0.82), and DSA (HR = 0.11; P = 0.004; 95% CI, 0.02-0.49) as predictors of graft survival. Multivariate analysis only retained eGFR response (HR = 0.12; P = 0.01; 95% CI, 0.02-0.64).

Conclusions.
In cAMR, short-term response to treatment for kidney function and DSA was associated with graft survival, but the role of early surveillance biopsies needs further evaluation.
Oculopharyngodistal myopathy
Authors: Yu Jiaxi , Deng Jianwen , Wang Zhaoxia 
Published: August 2022

Purpose of review
Oculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM. In this review, the latest findings related to the genetic, molecular and clinical features of OPDM, as well as the diagnosis and management are summarized.

Recent findings
Four gene mutations, CGG repeats in the 5’-untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1 have been reported to be disease-causing genes in OPDM, namely OPDM1, OPDM2, OPDM3 and OPDM4, accordingly. So far, limited studies have suggested that CGG repeat expansion within the pathogenic range may play a key role in the pathogenesis of OPDM with the gain-of-function mechanism at the RNA and/or protein level, while repeat expansion over a threshold limit may cause hypermethylation, leading to the transcriptional silencing of the CGG repeats in the expanded allele, which results in the existence of mild phenotype or asymptomatic carriers.

Summary
Novel gene mutations, possible molecular mechanisms and the clinical features related to different causative genes are discussed in this review. More studies on the exact pathogenic mechanism are needed.
Progress in spinal muscular atrophy research
Authors: Wurster Claudia , Petri Susanne 
Published: August 2022

Purpose of review
The development of new therapies has brought spinal muscular atrophy (SMA) into the spotlight. However, this was preceded by a long journey – from the first clinical description to the discovery of the genetic cause to molecular mechanisms of RNA and DNA technology.

Recent findings
Since 2016, the antisense oligonucleotide nusinersen has been (FDA) approved for the treatment of SMA, followed by the gene replacement therapy onasemnogene abeparvovec-xioi in 2019 and the small-molecule risdiplam in 2020. These drugs, all targeting upregulation of the SMN protein not only showed remarkable effects in clinical trials but also in real-world settings. SMA has been implemented in newborn screening in many countries around the world. SMN-independent strategies targeting skeletal muscle, for example, may play another therapeutic approach in the future.

Summary
This review aims to summarize the major clinical and basic science achievements in the field of SMA.