Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Skeletal disorders encompass a wide array of conditions, many of which are associated with short stature. Among these, Desbuquois dysplasia is a rare but severe condition characterized by profound dwarfism, distinct facial features, joint hypermobility with multiple dislocations, and unique vertebral and metaphyseal anomalies. Desbuquois dysplasia is inherited in an autosomal recessive manner, with both the DBQD1 (MIM 251450) and DBQD2 (MIM 615777) forms resulting from biallelic mutations. Specifically, DBQD1 is associated with homozygous or compound heterozygous mutations in the CANT1 gene, while DBQD2 can result from mutations in either the CANT1 or XYLT1 genes. This review synthesizes the findings of 111 published case reports, including 54 cases of DBQD1, 39 cases of DBQD2, and 14 cases of the Kim variant (DDKV). Patients in this cohort had a median birth weight of 2505 g, a median length of 40 cm, and a median occipitofrontal circumference of 33 cm. The review highlights the phenotypic variations across Desbuquois dysplasia subtypes, particularly in facial characteristics, joint dislocations, and bone deformities. Genetic analyses revealed a considerable diversity in mutations, with over 35% of cases involving missense mutations, primarily affecting the CANT1 gene. Additionally, approximately 60% of patients had a history of parental consanguinity, indicating a potential genetic predisposition in certain populations. The identified mutations included deletions, insertions, and nucleotide substitutions, many of which resulted in premature stop codons and the production of truncated, likely nonfunctional proteins. These findings underscore the genetic and clinical complexity of Desbuquois dysplasia, highlighting the importance of early diagnosis and the potential for personalized therapeutic approaches. Continued research is essential to uncover the underlying mechanisms of this disorder and improve outcomes for affected individuals through targeted treatments.

Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

Cartilage hair hypoplasia (CHH) can lead to the development of anemia as a possible complication of this rare genetic disease. Despite various publications on anemia in CHH patients, a comprehensive review on this topic has not been conducted. This article reviews publications on anemia in CHH patients published from 1981 to 2022. Most authors have reported macrocytic anemia and blood transfusion as a common treatment approach in this patient group. Recommended guidelines for managing anemia in CHH patients include iron chelation therapy for those requiring multiple blood transfusions, regular assessment of anemia symptoms, red blood cell parameters, and immune system function. Future studies should evaluate the erythroid system in a larger cohort of CHH patients, considering key factors such as concurrent illnesses, age, height, and weight.

Assessment Study of ChatGPT-3.5's Performance on the Final Polish Medical Examination: Accuracy in Answering 980 Questions.

BACKGROUND/OBJECTIVES: The use of artificial intelligence (AI) in education is dynamically growing, and models such as ChatGPT show potential in enhancing medical education. In Poland, to obtain a medical diploma, candidates must pass the Medical Final Examination, which consists of 200 questions with one correct answer per question, is administered in Polish, and assesses students' comprehensive medical knowledge and readiness for clinical practice. The aim of this study was to determine how ChatGPT-3.5 handles questions included in this exam. METHODS: This study considered 980 questions from five examination sessions of the Medical Final Examination conducted by the Medical Examination Center in the years 2022-2024. The analysis included the field of medicine, the difficulty index of the questions, and their type, namely theoretical versus case-study questions. RESULTS: The average correct answer rate achieved by ChatGPT for the five examination sessions hovered around 60% and was lower (p < 0.001) than the average score achieved by the examinees. The lowest percentage of correct answers was in hematology (42.1%), while the highest was in endocrinology (78.6%). The difficulty index of the questions showed a statistically significant correlation with the correctness of the answers (p = 0.04). Questions for which ChatGPT-3.5 provided incorrect answers had a lower (p < 0.001) percentage of correct responses. The type of questions analyzed did not significantly affect the correctness of the answers (p = 0.46). CONCLUSIONS: This study indicates that ChatGPT-3.5 can be an effective tool for assisting in passing the final medical exam, but the results should be interpreted cautiously. It is recommended to further verify the correctness of the answers using various AI tools.

Statistical reviews in journals of the World Association of Medical Editors.

INTRODUCTION: In recent years, there has been a decline in the quality of statistical reporting in biomedical scientific journals. OBJECTIVES: The aim of this survey study was to find out the opinions of the World Association of Medical Editors (WAME) members on statistical reviews conducted in their journals, and to summarize the related recommendations that should be implemented in this area. METHODS: A survey containing 25 questions on a range of aspects related to statistical peer review was distributed to WAME members and editorial staff of the journals they are affiliated with. RESULTS: The survey was completed by 141 individuals, the largest proportion of whom were editors­in­chief (36.9%). According to 40% of the respondents, only 31%-50% of the manuscripts accepted for publication are statistically correct. The higher the respondents' assessment of their own statistical knowledge, the lower they believed this percentage to be (P = 0.02). The frequency of statistical peer review was estimated by most respondents at only 1%-10% of the submitted manuscripts. The main reasons for this included difficulty in finding reviewers with the right skills and a lack of funding in this area. Among the respondents working for journals without a statistical editor on the editorial board, 49% believed that statistical reviews enhance the quality of published manuscripts, whereas among those confirming a presence of a statistical editor, this percentage was as high as 84% (P <0.001). Only 5% of the respondents stated that their journal uses the Statistical Analyses and Methods in the Published Literature recommendations. CONCLUSIONS: Nowadays, members of editorial boards face significant problems related conducting statistical reviews for their journals. For this reason, it is imperative to start implementing statistical guidelines for biomedical journals.

Digitally-enabled, person-centred care (PCC) in allergen immunotherapy: An ARIA-EAACI Position Paper.

In rhinitis and asthma, several mHealth apps have been developed but only a few have been validated. However, these apps have a high potential for improving person-centred care (PCC), especially in allergen immunotherapy (AIT). They can provide support in AIT initiation by selecting the appropriate patient and allergen shared decision-making. They can also help in (i) the evaluation of (early) efficacy, (ii) early and late stopping rules and (iii) the evaluation of (carried-over) efficacy after cessation of the treatment course. Future perspectives have been formulated in the first report of a joint task force (TF)-Allergic Rhinitis and Its Impact on Asthma (ARIA) and the European Academy of Allergy and Clinical Immunology (EAACI)-on digital biomarkers. The TF on AIT now aims to (i) outline the potential of the clinical applications of mHealth solutions, (ii) express their current limitations, (iii) make proposals regarding further developments for both clinical practice and scientific purpose and (iv) suggest which of the tools might best comply with the purpose of digitally-enabled PCC in AIT.

Magnetic Resonance Imaging and Manganism: A Narrative Review and Laboratory Recommendations.

In recent years, a series of articles has been published concerning magnetic resonance imaging (MRI) studies in a group of patients exposed to manganism, specifically factory workers, welders, and individuals with liver diseases, as well as those abusing home-produced ephedrone. Some potential symptoms of manganese toxicity include motor disturbances, neurocognitive problems, sleep disorders, and psychosocial changes. Despite various publications on MRI research in individuals with an elevated risk of manganism, there is a noticeable absence of a comprehensive review in this field. The detection of the accumulation of manganese in the brain through MRI can confirm the diagnosis and guide appropriate treatment. Due to the high cost of determining manganese ion levels in biological material, an additional aim of the manuscript was to identify simple medical laboratory parameters that, when performed concurrently with MRI, could assist in the diagnosis of manganism. Among these types of parameters are the levels of bilirubin, magnesium, liver enzymes, creatinine, hemoglobin, and hematocrit.

Enhancing biostatistics education for medical students in Poland: factors influencing perception and educational recommendations.

BACKGROUND: A number of recommendations for the teaching of biostatistics have been published to date, however, student opinion on them has not yet been studied. For this reason, the aim of the manuscript was to find out the opinions of medical students at universities in Poland on two forms of teaching biostatistics, namely traditional and practical, as well as to indicate, on the basis of the results obtained, the related educational recommendations. METHODS: The study involved a group of 527 students studying at seven medical faculties in Poland, who were asked to imagine two different courses. The traditional form of teaching biostatistics was based on the standard teaching scheme of running a test from memory in a statistical package, while the practical one involved reading an article in which a particular test was applied and then applying it based on the instruction provided. Other aspects related to the teaching of the subject were assessed. RESULTS: According to the students of each course, the practical form of teaching biostatistics reduces the stress level associated with teaching and the student exam (p < 0.001), as well as contributing to an increased level of elevated knowledge (p < 0.001), while the degree of satisfaction after passing the exam is higher (p < 0.001). A greater proportion of students (p < 0.001) believe that credit for the course could be given by doing a statistical review of an article or conducting a survey, followed by the tests learned in class. More than 95% also said that the delivery of the courses should be based on the field of study they were taking, during which time they would also like to have the opportunity to take part in optional activities and hear lectures from experts. CONCLUSION: It is recommended that more emphasis be placed on practical teaching the subject of biostatistics.

Poor statistical reporting: do we have a reason for concern? A narrative review and recommendations.

PURPOSE OF REVIEW: The aim of the review conducted was to present recent articles indicating the need to implement statistical recommendations in the daily work of biomedical journals. RECENT FINDINGS: The most recent literature shows an unchanged percentage of journals using specialized statistical review over 20 years. The problems of finding statistical reviewers, the impractical way in which biostatistics is taught and the nonimplementation of published statistical recommendations contribute to the fact that a small percentage of accepted manuscripts contain correctly performed analysis. The statistical recommendations published for authors and editorial board members in recent years contain important advice, but more emphasis should be placed on their practical and rigorous implementation. If this is not the case, we will additionally continue to experience low reproducibility of the research. SUMMARY: There is a low level of statistical reporting these days. Recommendations related to the statistical review of submitted manuscripts should be followed more rigorously.

Placebo-controlled randomized clinical trials of antidepressants for major depressive disorder: Analysis of ClinicalTrials.gov, 2008-2022.

The purpose of this study was to analyze the key aspects of the design of contemporary placebo-controlled randomized clinical trials (RCTs) of antidepressants enrolling patients with major depressive disorder (MDD) aged 18 years or older, especially the outcome measures and the eligibility criteria. The study included 122 RCTs registered with ClinicalTrials.gov and started from 2008 through 2022. Most RCTs assessed only clinical remission, with proportion of trials with outcome measures related to functional remission being rather low (n = 34; 28 %). Clinical remission was mostly evaluated in acute phase of depression, and only 7 (6 %) trials assessed the prevention of relapse. Proportion of trials utilizing self-report questionnaires that provide important information complementary to clinician-rated scales was moderate (n = 66; 54 %). Another problem in included RCTs was common use of stringent eligibility criteria. For instance, minimal symtpom severity required for the patient's inclusion was listed in 104 RCTs (85 %), and 41 RCTs (34 %) excluded patients based on comorbid anxiety disorders. Most RCTs (n = 103; 84 %) excluded older patients, and only 6 (5 %) trials were dedicated exclusively to them. To ensure optimal development of clinical pharmacotherapy of MDD, the investigators should consider modification of some of the key aspects of the design of RCTs of antidepressants.

Statistical recommendations for the Global Burden of Disease studies.

Studies Global Burden of Disease (GBD) presents an all-encompassing portrayal of mortality and disability, considering various countries, time periods, age groups, and sex. This article presents statistical recommendations for GBD studies.

ChatGPT's Skills in Statistical Analysis Using the Example of Allergology: Do We Have Reason for Concern?

BACKGROUND: Content generated by artificial intelligence is sometimes not truthful. To date, there have been a number of medical studies related to the validity of ChatGPT's responses; however, there is a lack of studies addressing various aspects of statistical analysis. The aim of this study was to assess the validity of the answers provided by ChatGPT in relation to statistical analysis, as well as to identify recommendations to be implemented in the future in connection with the results obtained. METHODS: The study was divided into four parts and was based on the exemplary medical field of allergology. The first part consisted of asking ChatGPT 30 different questions related to statistical analysis. The next five questions included a request for ChatGPT to perform the relevant statistical analyses, and another five requested ChatGPT to indicate which statistical test should be applied to articles accepted for publication in Allergy. The final part of the survey involved asking ChatGPT the same statistical question three times. RESULTS: Out of the 40 general questions asked that related to broad statistical analysis, ChatGPT did not fully answer half of them. Assumptions necessary for the application of specific statistical tests were not included. ChatGPT also gave completely divergent answers to one question about which test should be used. CONCLUSION: The answers provided by ChatGPT to various statistical questions may give rise to the use of inappropriate statistical tests and, consequently, the subsequent misinterpretation of the research results obtained. Questions asked in this regard need to be framed more precisely.

ICU Delirium Is Associated with Cardiovascular Burden and Higher Mortality in Patients with Severe COVID-19 Pneumonia.

BACKGROUND: COVID-19 can lead to functional disorders and complications, e.g., pulmonary, thromboembolic, and neurological. The neuro-invasive potential of SARS-CoV-2 may result in acute brain malfunction, which manifests as delirium as a symptom. Delirium is a risk factor for death among patients hospitalized due to critical illness. Taking the above into consideration, the authors investigated risk factors for delirium in COVID-19 patients and its influence on outcomes. METHODS: A total of 335 patients hospitalized due to severe forms of COVID-19 were enrolled in the study. Data were collected from medical charts. RESULTS: Delirium occurred among 21.5% of patients. In the delirium group, mortality was significantly higher compared to non-delirium patients (59.7% vs. 28.5%; p < 0.001). Delirium increased the risk of death, with an OR of 3.71 (95% CI 2.16-6.89; p < 0.001). Age, chronic atrial fibrillation, elevated INR, urea, and procalcitonin, as well as decreased phosphates, appeared to be the independent risk factors for delirium occurrence. CONCLUSIONS: Delirium occurrence in patients with severe COVID-19 significantly increases the risk of death and is associated with a cardiovascular burden. Hypophosphatemia is a promising reversible factor to reduce mortality in this group of patients. However, larger studies are essential in this area.