Medical Literature Research Articles

Ketosis-prone Diabetes Presenting with Acute Esophageal Necrosis or “Black Esophagus”: An Intriguing New Clinical Association

Background:: Ketosis-prone diabetes (KPD) is an intermediate subtype of diabetes mellitus, usually affecting Afro-American adults, presenting with diabetic ketoacidosis (DKA), without the classic phenotype of autoimmune type 1 diabetes. Patients require insulin therapy at onset for the acute decompensation, then usually remain insulin-free for prolonged periods with diet alone or with other antidiabetic drugs. DKA can be rarely complicated by upper gastrointestinal bleeding and mucosal necrosis, a severe complication named acute esophageal necrosis (AEN) burdened by high mortality. The association of KPD presenting with DKA complicated by AEN is here reported for the first time, to the knowledge of the authors, in the medical literature. Case Presentation:: Here we report an interesting case of middle-aged African woman, newly diagnosed with KPD, presenting with DKA hematemesis. The patient was first treated at Intensive Care Unit for the ketoacidosis with intravenous fluids combined with continuous insulin infusion, and then switched to subcutaneous regimen. At the same time, esophagogastroduodenoscopy (EGD) was performed to diagnose acute esophageal necrosis, which was promptly managed with proton pump inhibitors infusion, fasting, and parenteral nutrition. After the correct clinical evaluation, the patient was switched to oral antidiabetic and basal insulin at discharge and an EGD follow-up was scheduled. Conclusions:: KPD remains an under-recognized and under-diagnosed type of diabetes which can present as DKA. Since DKA could be a possible trigger of AEN, a rare but potentially lifethreatening condition, that clinicians should be aware of, in patients presenting with upper gastrointestinal bleeding and ketoacidosis. The prompt management and classification of DKA, combined with the EGD execution for early AEN diagnosis and follow-up, is essential.

Analysis of 20 Years of Ethics Consultations at a U.S. Children's Hospital.

AbstractEmpirical studies of pediatric clinical ethics cases are scant in the biomedical and bioethics literature. In this study, more than 100 detailed records of clinical ethics consultations spanning from 2000 to 2020 at a moderately sized U.S. Mid-Atlantic children's hospital were abstracted and analyzed. Findings of the analysis were generally consistent with other studies in pediatric clinical ethics, with additional insight into aspects of moral distress associated with cases, family engagement with consultations, and other characteristics of interest also documented. Over the 20-year time frame, ethics consults were completed on average twice a year, with a detectable upward trend. Consultations were requested across the spectrum of services and units within the hospital, with critical care environments represented most frequently and genetic and neurological conditions being the most common primary diagnoses. Ethical analysis most commonly related to questions around the principles of autonomy and beneficence.

Med-Tech-AI: Exploring Artificial Intelligence for Enhanced Healthcare Research

Abstract: This paper explores the potential of Artificial Intelligence (AI) to revolutionize healthcare research through the MedTech-AI project. The project investigates the development and evaluation of AI models for medical image analysis, aiming for improved disease detection and classification. It examines the potential of AI-powered clinical decision support systems (CDSS) to assist healthcare professionals. Additionally, the project explores Natural Language Processing (NLP) techniques for extracting valuable insights from unstructured healthcare data like electronic health records and medical literature. Finally, the paper investigates the use of AI for predictive analytics in disease prevention, identifying risk factors and informing preventative measures. By examining these areas, the Med-Tech-AI project establishes a foundation for understanding how AI can enhance healthcare research, potentially leading to improved healthcare efficiency, accuracy, and ultimately, better patient outcomes

How consistent are the key recommendations, and what is the quality of guidelines and expert consensus regarding paediatric cow's milk protein allergy?

The objective of this study was to assess the quality and consistency of recommendations in clinical practice guidelines (CPGs) and expert consensus on paediatric cow's milk protein allergy (CMPA) to serve as a foundation for future revisions and enhancements of clinical guidelines and consensus documents. We conducted a comprehensive literature search across several databases, including the Chinese Biomedical Literature Database (CBM), PubMed, Embase, Web of Science, UpToDate, ClinicalKey, DynaMed Plus and BMJ Best Practice. We spanned the search period from the inception of each database through October 1, 2023. We integrated subject headings (MeSH/Emtree) and keywords into the search strategy, used the search methodologies of existing literature and developed it in collaboration with a librarian. Two trained researchers independently conducted the literature screening and data extraction. We evaluated methodological quality and recommendations by using the Appraisal of Guidelines for Research & Evaluation II (AGREE II) and AGREE-Recommendations for Excellence (AGREE-REX) tools. Moreover, we compared and summarized key recommendations from high-quality CPGs. Our study included 27 CPGs and expert consensus documents on CMPA. Only four CPGs (14.8%) achieved a high-quality AGREE II rating. The four high-quality CPGs consistently provided recommendations for CMPA. The highest scoring domains for AGREE II were 'scope and purpose' (77 ± 12%) and 'clarity of presentation' (75 ± 22%). The lowest scoring domains were 'stakeholder involvement' (49 ± 21%), 'rigor of development' (34 ± 20%) and 'applicability' (12 ± 20%). Evaluation with AGREE-REX generally demonstrated low scores across its domains. Conclusion: Recommendations within high-quality CPGs for the paediatric CMPA showed fundamental consistency. Nevertheless, the methodology and recommendation content of CPGs and the expert consensus exhibited low quality, thus indicating a substantial scope for enhancement. Guideline developers should rigorously follow the AGREE II and AGREE-REX standards in creating CPGs or expert consensuses to guarantee their clinical efficacy in managing paediatric CMPA. What is Known: • The quality of clinical practice guidelines and expert consensus on paediatric cow's milk protein allergy (CMPA) remains uncertain. • There is a lack of clarity regarding the consistency of crucial recommendations for CMPA management. What is New: • Improving the methodological quality of guidelines and consensus on CMPA requires greater emphasis on stakeholder engagement, rigorous development processes, and practical applicability. • The recommendations from four high-quality guidelines align. However, addressing clinical applicability, integrating values and preferences, and ensuring actionable implementation are critical to improving the quality of all guidelines.

Contrast-enhanced ultrasound versus conventional ultrasound in guided liver puncture biopsy: a systematic review and meta-analysis.

To evaluate the contrast-enhanced ultrasound (CEUS) versus conventional ultrasound (US) in guided liver puncture biopsy through a systematic review and meta-analysis. Comparative studies on CEUS and US in liver puncture biopsy were systematically searched from PubMed, Embase, Cochrane library, Chinese Biomedical Literature Database. Two researchers independently screened and extracted data, and RevMan 5.3 software was used for data analysis. The area under the curve (AUC) for CEUS and US in diagnosing liver biopsy was 0.98 (95%CI 0.99-0.97) and 0.95 (95%CI 0.97-0.93), respectively. CEUS demonstrated significantly higher single puncture success rate (38.0% vs 36.4%) [OR=2.67; 95% CI 1.38-5 .17; p=0 .003] and pathological diagnosis rate (95.6% vs 90.5%) [OR =4.35; 95%CI 2.25 -8.39; p<0 .001] compared to the US group. The diagnostic accuracy of the CEUS group was 95.6 % (1964/2054), while that of the US group was 90.5% (1729/1909). The combined analysis indicated significant advantages for CEUS over US [(OR = 2.36). 95 %CI 1.81-3.09, p<0.001]. CEUS is superior to US in the diagnostic performance, single puncture success rate, pathological diagnosis rate and diagnostic accuracy of liver biopsy in patients with liver lesions.

Bioinformatics Analysis and Validation of Potential Markers Associated with Prediction and Prognosis of Gastric Cancer

Gastric cancer (GC) is one of the most common cancers worldwide. Most patients are diagnosed at the progressive stage of the disease, and current anticancer drug advancements are still lacking. Therefore, it is crucial to find relevant biomarkers with the accurate prediction of prognoses and good predictive accuracy to select appropriate patients with GC. Recent advances in molecular profiling technologies, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, have enabled the approach of GC biology at multiple levels of omics interaction networks. Systemic biological analyses, such as computational inference of “big data” and advanced bioinformatic approaches, are emerging to identify the key molecular biomarkers of GC, which would benefit targeted therapies. This review summarizes the current status of how bioinformatics analysis contributes to biomarker discovery for prognosis and prediction of therapeutic efficacy in GC based on a search of the medical literature. We highlight emerging individual multi-omics datasets, such as genomics, epigenomics, transcriptomics, proteomics, and metabolomics, for validating putative markers. Finally, we discuss the current challenges and future perspectives to integrate multi-omics analysis for improving biomarker implementation. The practical integration of bioinformatics analysis and multi-omics datasets under complementary computational analysis is having a great impact on the search for predictive and prognostic biomarkers and may lead to an important revolution in treatment.

The Role of Systematic Reviews in Hematological Diseases Treatment

Evidence-based medicine utilizes medical literature to guide clinical decisions, diagnose and treat patients. Practitioners use evidence-based guidelines to support or oppose a medical intervention. Therefore, systematic reviews of high-quality randomized controlled trials are the highest quality reviews, as these investigations are at the top of the hierarchy of evidence-based medicine. In continuing medical education, systematic reviews are used to inform medical interventions that should be used or avoided in order to protect patient safety and improve health services based on evidence5. In addition, systematic reviews produce empirical and focused answers. Regarding the explanation above, the author would like to explain further regarding the role of systematic reviews in therapeutic approaches in the field of hematology.

The safety and feasibility of same-day discharge after subcutaneous implantable cardioverter defibrillator implantation

Abstract Introduction Subcutaneous Implantable cardioverter defibrillators (S-ICDs) are now progressively administered as a day-case procedure. While existing data supports the feasibility and safety of same-day discharge after transvenous ICD implantation, comparable evidence for S-ICDs is not well established. This study addresses this by presenting data from the most extensive population documented in the medical literature. We seek to evaluate the feasibility and safety of same-day discharge after S-ICD implantation. Purpose To investigate the feasibility and safety of same-day discharge following S-ICD implantation. Methods A retrospective analysis was conducted, encompassing data from all patients who underwent S-ICD implantation at our institution between January 2011 to April 2023 (n=240). The cohort was stratified into two groups: those discharged on the same day of the procedure (SD, n=124) and those subject to at least overnight hospital observation (OD, n=116). The medical records were reviewed during this period aiming to identify potential complications. Complications were categorized as device-related complications or inappropriate shock. Specific events, such as inappropriate shocks; lead revision; infection necessitating lead or generator extraction; pocket hematoma requiring drainage, blood transfusion, or prolongation of hospitalization; and other complications related to the lead or generator prompting medical or surgical intervention were documented. An inappropriate shock was defined as one delivered for any rhythm other than ventricular fibrillation or ventricular tachycardia. Results Among the 240 patients included in the study, 123 were scheduled for a day case procedure, while the remaining 117 underwent S-ICD implantation as in-patients. Notably, 112(91%) out of 123 planned-day patients and 12 in-patients (SD, total n=124) were successfully discharged on the same day. A substantial proportion (84%) of SD group had undergone the procedure for primary prevention. Patients with congenital heart disease were predominantly observed overnight. Defibrillation testing (DFT) is routine in our practice to ensure S-ICD integrity and was conducted in all S-ICD patients unless contraindicated. The success rate of DFT among attempted patients was high, standing at 72% and 78% in the SD and OD groups, respectively. The incidence of device-related complications was comparable between the two groups. The SD group displayed a slightly higher superficial infection rate but the incidence of inappropriate shocks was lower in the SD groups. Conclusion Based on our findings, same-day discharge following S-ICD implantation emerges as an appropriate practice. Our data strongly supports the assertion that same-day discharge in this context is safe and feasible, offering valuable insights into the optimal post-procedural management of S-ICD patients.Table 1ComplicationsTable 2Defibrillation Test

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as “intellectual developmental disorder with language impairment with or without autistic features” (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous FOXP1 variant, namely, a four-year-old boy and 14-month-old girl. Both children have significantly delayed early psychomotor development, hypotonia, and very similar, slightly dysmorphic facial features. A lack of expressive speech was the leading symptom in the case of the four-year-old boy. We performed whole-exome sequencing on the male patient, which identified a pathogenic heterozygous c.1541G&gt;A (p.Arg514His) FOXP1 mutation. His sister’s targeted mutation analysis also showed the same heterozygous FOXP1 variant. Segregation analysis revealed the de novo origin of the mutation, suggesting the presence of parental gonadal mosaicism. To the best of our knowledge, this is the first report of gonadal mosaicism in FOXP1-related neurodevelopmental disorders in the medical literature.

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth, and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th finger, and syndactyly of the 2nd and 3rd toes. Pathogenic variants of the HMGA2 (high mobility group AT-hook 2) gene, on chromosome 12q14, which regulates the transcription of growth factor IGF2, have recently been associated with this syndrome. Herein, we present a 2.5-year-old boy with growth delay, SRS-like phenotype, and a variant of uncertain significance in the HMGA2 gene, which has not, to the best of our knowledge, been described to date in the medical literature. So far, 28 pathogenic variants ofthe HMGA2 gene in patients with clinical SRS phenotype have recently been reported. Therefore, HMGA2 gene testing should alwaysbe done in SRS patients who are found to be negative for the typical 11p15 (epi)mutations and matUPD7, while the mutations should also be added to growth retardation disorder panels.

Accidental Intravenous Administration of Simethicone in a 4-Year-Old Patient: A Case Report

Simethicone is an antiflatulent medication exclusively administered orally, thus its systemic effects remain unknown. We present a case of an inadvertent intravenous administration of simethicone to a 4-year-old patient, precipitating respiratory difficulty, cyanosis, and altered mental status. The patient’s condition improved rapidly with appropriate interventions, leading to discharge in a fully recovered state. To date, only one documented instance of intravenous simethicone administration exists in medical literature.

Exploring the rules of related parameters in acupuncture for post-stroke dysphagia based on data mining

BackgroundPost-stroke dysphagia (PSD) affects the efficacy and safety of swallowing, causing serious complications. Acupuncture is a promising and cost-effective treatment for PSD; however, as the number of randomized controlled trials increases, scientific analysis of the parameters and acupoint prescription is required. Therefore, this study aimed to explore the effects of acupuncture on parameters related to post-stroke dysphagia (PSD).MethodsWe searched the Cochrane Library, PubMed, Embase, Web of Science, China National Knowledge Infrastructure, Wanfang Database, Chinese Biomedical Literature, and Chongqing VIP Database for randomized controlled trials of acupuncture for PSD in the last 15 years and relevant parameters were analyzed using data mining techniques.ResultsIn total, 3,205 records were identified, of which 3,507 patients with PSD were included in 39 studies. The comprehensive analysis demonstrated that the closest parameter combinations of acupuncture on PSD were 0.25 mm × 40 mm needle size, 30 min retention time, five treatments per week, and a 4-week total course of treatment. Additionally, the gallbladder and nontraditional meridians, crossing points, and head and neck sites are the most commonly used acupoint parameters. The core acupoints identified were GB20, RN23, EX-HN14, Gongxue, MS6, SJ17, EX-HN12, EX-HN13, and the commonly used combination of EX-HN12, EX-HN13, GB20, and RN23.ConclusionThis study analyzed the patterns of PSD-related needling and acupoint parameters to provide evidence-based guidelines for clinical acupuncturists in treating PSD, potentially benefitting affected patients.

Clinical evaluation of platelet-rich plasma therapy for osteonecrosis of the femoral head: A systematic review and meta-analysis.

This meta-analysis aims to assess the efficacy and safety of platelet-rich plasma (PRP) for osteonecrosis of the femoral head (ONFH). We comprehensively searched randomized controlled trials in PubMed, Web of Science, EMBASE, the Cochrane Central Register of Controlled Trials, Chinese National Knowledge Infrastructure, China Science and Technology Journal Database, WanFang, and Chinese BioMedical Literature Database from inception until October 25, 2024. The literature on the clinical efficacy of autologous PRP for ONFH was collated. According to the inclusion and exclusion criteria, the literature was screened, quality evaluated and the data was extracted. Meta-analysis was carried out with the software Review Manager 5.4.1 software and Stata 17.0 software. In addition, potential publication bias was detected by the funnel plot test and Egger's test. The GRADE system was used to evaluate the quality of evidence for outcome indicators. Fourteen studies involving 909 patients were included in this study. Compared with non-PRP, PRP exhibited significant improvements in the Harris hip score (HHS) at 3 months (MD = 3.58, 95% Cl: 1.59 to 5.58, P = 0.0004), 6 months (MD = 6.19, 95% Cl: 3.96 to 8.41, P < 0.00001), 12 months (MD = 4.73, 95% Cl: 3.24 to 6.22, P < 0.00001), ≥ 24 months (MD = 6.83, 95% Cl: 2.09 to 11.59, P = 0.0003), and the last follow-up (MD = 6.57, 95% Cl: 4.81 to 8.33, P < 0.00001). The PRP also showed improvement in HHS compared to baseline than the non-PRP at 3 months (MD = 3.60, 95% Cl: 1.26 to 5.94, P = 0.003), 6 months (MD = 6.17, 95% Cl: 3.74 to 8.61, P < 0.00001), 12 months (MD = 5.35, 95% Cl: 3.44 to 7.25, P < 0.00001), ≥ 24 months (MD = 8.19, 95% Cl: 3.76 to 12.62, P = 0.0003), and the last follow-up (MD = 6.94, 95% Cl: 5.09 to 8.78, P < 0.00001). The change in visual analog scale (VAS) score 3 months post intervention (MD = -0.33, 95% Cl: -0.52 to -0.13, P = 0.001), 6 months (MD = -0.69, 95% Cl: -0.90 to -0.48, P < 0.00001), 12 months (MD = -0.75, 95% Cl: -1.05 to -0.46, P < 0.00001), ≥ 24 months (MD = -1.05, 95% Cl: -1.20 to -0.89, P < 0.00001), and the last follow-up (MD = -0.75, 95% Cl: -0.97 to -0.54, P < 0.00001). The PRP also showed a decrease in VAS score compared to baseline than the non-PRP at 3 months (MD = -0.29, 95% Cl: -0.41 to -0.17, P = 0.003), 6 months (MD = -0.63, 95% Cl: -0.96 to -0.30, P = 0.0002), 12 months (MD = -0.78, 95% Cl: -1.22 to -0.33, P = 0.0006), ≥ 24 months (MD = -1.11, 95% Cl: -1.27 to -0.96, P < 0.00001), and the last follow-up (MD = -0.74, 95% Cl: -1.05 to -0.43, P < 0.00001). Additionally, it was found that the PRP group had the advantages in the following aspects: collapse rate of the femoral head (RR = 0.33, 95% Cl: 0.17 to 0.62, P = 0.0006), rate of conversion to total hip arthroplasty (RR = 0.37, 95% Cl: 0.18 to 0.74, P = 0.005), and overall complications (RR = 0.33, 95% Cl: 0.13 to 0.83, P = 0.02). The GRADE evidence evaluation showed overall complication as very low quality and other indicators as low quality. There is limited evidence showing benefit of PRP therapy for treatment of ONFH patients, and most of this evidence is of low quality. Caution should therefore be exercised in interpreting these results. It is recommended that future research involve a greater number of high-quality studies to validate the aforementioned conclusions. https://www.crd.york.ac.uk/prospero/ #recordDetails, CRD42023463031.

Сurrent medical rehabilitation methods for patients after carpal tunnel syndrome surgical treatment: a review

INTRODUCTION. Carpal tunnel syndrome is one of the most common tunnel syndromes types and ranks sixth in the all-occupational diseases’ registry. The high interest in this pathology and its’ postoperative management peculiarities study is due to the disease widespread prevalence, social significance, often unsatisfactory surgical treatment results and a long hand function restoration period. The purpose of this work was to study modern concepts of postoperative rehabilitation of patients with carpal tunnel syndrome. SOURCE SEARCH METHODOLOGY. When preparing the review, open electronic databases of scientific literature were used: PubMed, ClinicalTrials.gov, eLibrary.ru. The search for medical literature data was carried out using the following keywords: “rehabilitation”, “carpal tunnel syndrome”, “carpal tunnel syndrome”, “median nerve”, “compressive neuropathy”. The criteria for inclusion in the analysis of literature sources were: randomized controlled clinical trials, systematic reviews and meta-analyses. Preference was given to publications over the past 5–10 years. DISCUSSION. The article presents the most commonly used techniques in the postoperative management of patients with carpal tunnel syndrome, discusses the mechanisms of their action and prospects for the development of this area. The review discussed the following rehabilitation methods: a wide range of methods of hardware physiotherapy, manual therapy, kinesiotaping, manual lymphatic drainage, as well as the possibilities of physical therapy and robotic mechanotherapy. Despite the high level of development of medicine, the long process of rehabilitation of these patients remains an important problem, while the clinical effectiveness of a wider range of proposed techniques still remains poorly understood. Some of the most promising methods of rehabilitation of patients after surgical treatment for carpal tunnel syndrome are methods of robotic mechanotherapy and extracorporeal shock wave therapy. CONCLUSION. For the effective use of the described techniques as part of the postoperative rehabilitation of patients with carpal tunnel syndrome in clinical practice, further research and study of their long-term effects, as well as comparison of their effectiveness with the aim of the most complete and rapid restoration of the function of the affected hand, is necessary.

Effects of different sodium–glucose cotransporter 2 inhibitors in heart failure with reduced or preserved ejection fraction: a network meta-analysis

BackgroundThis systematic review and meta-analysis aimed to explore the effects of different sodium–glucose cotransporter-2 inhibitors (SGLT2i) on prognosis and cardiac structural remodeling in patients with heart failure (HF).MethodsRelevant studies published up to 20 March 2024 were retrieved from PubMed, EMBASE, Web of Science, and Cochrane Library CNKI, China Biomedical Literature Service, VIP, and WanFang databases. We included randomized controlled trials of different SGLT2i and pooled the prognosis data of patients with HF. We compared the efficacy of different SGLT2i in patients with HF and conducted a sub-analysis based on left ventricular ejection fraction (LVEF).ResultsWe identified 77 randomized controlled trials involving 43,561 patients. The results showed that SGLT2i significantly enhanced outcomes in HF, including a composite of hospitalizations for HF and cardiovascular death, individual hospitalizations for HF, Kansas City Cardiomyopathy Questionnaire (KCCQ) scores, left atrial volume index (LAVi), and LVEF among all HF patients (P &amp;lt; 0.05) compared to a placebo. Sotagliflozin was superior to empagliflozin [RR = 0.88, CI (0.79–0.97)] and dapagliflozin [RR = 0.86, CI (0.77–0.96)] in reducing hospitalizations for HF and CV death. Dapagliflozin significantly reduced hospitalizations [RR = 0.51, CI (0.33–0.80)], CV death [RR = 0.73, CI (0.54–0.97)], and all-cause mortality [RR = 0.69, CI (0.48–0.99)] in patients with HF with reduced ejection fraction (HFrEF). SGLT2i also plays a significant role in improving cardiac remodeling and quality of life (LVMi, LVEDV, KCQQ) (P &amp;lt; 0.05). Among patients with HF with preserved ejection fraction (HFpEF), SGLT2i significantly improved cardiac function in HFpEF patients (P &amp;lt; 0.05). In addition, canagliflozin [RR = 0.09, CI (0.01–0.86)] demonstrated greater safety compared to sotagliflozin in a composite of urinary and reproductive infections of HFpEF patients.ConclusionOur systematic review showed that SGLT2i generally enhances the prognosis of patients with HF. Sotagliflozin demonstrated superiority over empagliflozin and dapagliflozin in a composite of hospitalization for HF and CV death in the overall HF patients. Canagliflozin exhibited greater safety compared to sotagliflozin in a composite of urinary and reproductive infections of HFpEF. Overall, the efficacy of SGLT2i was greater in HFrEF patients than in HFpEF patients.

Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.

Spinocerebellar ataxia type 34 (SCA34) is a dominantly inherited disease that causes late-onset ataxia, in association with skin lesions in the form of erythrokeratodermia variabilis. It is caused by mutations in the ELOVL4 gene, which encodes for the ELOVL4 protein and has the function of lengthening very long chain (VLC) fatty acids (FA), which are important components of central myelin. The aim of this work was to review the medical literature on the biochemical abnormalities of SCA34, and based on the obtained information, to propose supplementation of deficient FAs. A review of the ad hoc medical literature was performed. Plasma levels of the ELOVL4 products C32, C34 and C36 FA have not been reported in SCA34 yet. However, pathogenic variants of ELOVL4 revealed deficient biosynthesis of C28, C30, C32, C34 and C36 FA compared to WT in cell cultures, and the levels of ceramides and phosphatidylcholines containing ≥ 34C FA were decreased compared to WT in HeLa cells expressing mutant SCA34 proteins. Besides, a pathological study of SCA34 revealed myelin destruction and loss of oligodendrocytes in cerebral and cerebellar white matter. Levels of VLC-FA should be determined, to identify specifically deficient FAs in SCA34. Cerebellar ataxia could possibly be improved by administration of the deficient FAs, as found in SCA38 with supplementation of docosahexaenoic acid. The authors suggest investigators with access to SCA34, to take into consideration this therapeutic hypothesis, and try to verify the potential efficacy of administration of VLCFA in this disease.

Efficacy and safety of transcutaneous auricular vagus nerve stimulation (ta-VNS) in the treatment of tinnitus: protocol for an updated systematic review and meta-analysis

IntroductionWith an increasing incidence and significant effects on patients, tinnitus has become a major disease burden. There is a dearth of therapies with established efficacy for tinnitus. Transcutaneous auricular vagus...

Competing discourses, contested roles: Electronic health records in medical education.

The integration of electronic health records (EHRs) into medical education remains contested despite their widespread use in clinical practice. For medical trainees, this has resulted in idiosyncratic and often ad hoc methods of instruction on EHR use. The purpose of this study was to understand the currently fragmented nature of EHR instruction by examining discourses of EHR use within the medical education literature. We conducted a Foucauldian critical discourse analysis to identify discourses of EHRs in the medical education literature. We found our texts through a systematic search of widely cited medical education journals from 2013-2023. Each text was analysed for recurring truth statements-claims framed as self-evidently true and thus not needing supporting evidence-about the role of EHRs in medical education. We identified three major discourses: (1) EHRs as a clinical skill and competency, emphasising training of physical interactions between learners, patients and computers; (2) EHRs as a system, emphasising the creation and facilitation of networks of people, technologies, institutions and standards; and (3) EHRs as a cognitive process, framed as a method to shape processes like clinical reasoning and bias. Each discourse privileged certain stakeholders over others and served to rationalise educational interventions that could be seen as beneficial in isolation yet were often disjointed in combination. Competing discourses of EHR use in medical education produce divergent interventions that exacerbate their contested role in contemporary medical education. Identifying different claims for the benefits of EHR use in these settings allows educators to make rational choices between competing educational directions.

The great detectives: humans versus AI detectors in catching large language model-generated medical writing

BackgroundThe application of artificial intelligence (AI) in academic writing has raised concerns regarding accuracy, ethics, and scientific rigour. Some AI content detectors may not accurately identify AI-generated texts, especially those that have undergone paraphrasing. Therefore, there is a pressing need for efficacious approaches or guidelines to govern AI usage in specific disciplines.ObjectiveOur study aims to compare the accuracy of mainstream AI content detectors and human reviewers in detecting AI-generated rehabilitation-related articles with or without paraphrasing.Study designThis cross-sectional study purposively chose 50 rehabilitation-related articles from four peer-reviewed journals, and then fabricated another 50 articles using ChatGPT. Specifically, ChatGPT was used to generate the introduction, discussion, and conclusion sections based on the original titles, methods, and results. Wordtune was then used to rephrase the ChatGPT-generated articles. Six common AI content detectors (Originality.ai, Turnitin, ZeroGPT, GPTZero, Content at Scale, and GPT-2 Output Detector) were employed to identify AI content for the original, ChatGPT-generated and AI-rephrased articles. Four human reviewers (two student reviewers and two professorial reviewers) were recruited to differentiate between the original articles and AI-rephrased articles, which were expected to be more difficult to detect. They were instructed to give reasons for their judgements.ResultsOriginality.ai correctly detected 100% of ChatGPT-generated and AI-rephrased texts. ZeroGPT accurately detected 96% of ChatGPT-generated and 88% of AI-rephrased articles. The areas under the receiver operating characteristic curve (AUROC) of ZeroGPT were 0.98 for identifying human-written and AI articles. Turnitin showed a 0% misclassification rate for human-written articles, although it only identified 30% of AI-rephrased articles. Professorial reviewers accurately discriminated at least 96% of AI-rephrased articles, but they misclassified 12% of human-written articles as AI-generated. On average, students only identified 76% of AI-rephrased articles. Reviewers identified AI-rephrased articles based on ‘incoherent content’ (34.36%), followed by ‘grammatical errors’ (20.26%), and ‘insufficient evidence’ (16.15%).Conclusions and relevanceThis study directly compared the accuracy of advanced AI detectors and human reviewers in detecting AI-generated medical writing after paraphrasing. Our findings demonstrate that specific detectors and experienced reviewers can accurately identify articles generated by Large Language Models, even after paraphrasing. The rationale employed by our reviewers in their assessments can inform future evaluation strategies for monitoring AI usage in medical education or publications. AI content detectors may be incorporated as an additional screening tool in the peer-review process of academic journals.

Pulmonary Langerhans Cell Histiocytosis Post-Hodgkin Lymphoma Completely Resolved With Vinblastine in a Heavy Smoker: Coincidence or Causation?

The association among Langerhans cell histiocytosis, hematolymphoid malignancies, and heavy smoking has been addressed in medical literature to identify a possible potential link. Such occurrence can pose diagnostic challenges, as well as important clinical implications for disease progression and treatment approaches. We present pulmonary Langerhans cell histiocytosis instance in a 35-year-old male patient, with a 34-pack-year smoking history and nodular sclerosing Hodgkin lymphoma stage IIB who developed multiple bilateral lung nodules. The patient completed 6 cycles of doxorubicin (Adriamycin), bleomycin, vinblastine, and dacarbazine chemotherapy and radiotherapy 2 years earlier. CT chest scans revealed numerous micronodules scattered randomly throughout the upper and lower left lung lobes. Subsequent wedge resection exhibited cellular proliferation with grooved nuclei, eosinophilic cytoplasm, and surrounding inflammatory components. Immunohistochemical staining showed positive staining for S100 and CD1a confirming a diagnosis of pulmonary Langerhans cell histiocytosis. The patient responded to a 6-week treatment with vinblastine and prednisolone. A subsequent CT scan of the lungs revealed complete resolution after 3 years. This report underscores the importance of identifying pulmonary Langerhans cell histiocytosis in heavy smokers with Hodgkin lymphoma presenting with multiple nodular pulmonary lesions. For patients with Hodgkin lymphoma and a possible genetic predisposition, smoking may contribute to the overt development of pulmonary Langerhans cell histiocytosis. Therefore, smoking cessation and careful follow-up examinations are required. Further research is recommended to elucidate the underlying mechanisms of this intriguing association.