OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

BACKGROUND AND OBJECTIVE

Morbidity and mortality conferences (M&M) have been an important part of the hospital governance since the early 1900s. It has been shown to improve overall quality of care, minimize adverse occurrences and preventable fatalities, and provide chances for educational learning. However, medical trainees have different perceptions of M&M conferences which may affect its effectiveness in improving patient outcomes. The aim of this study is to determine the perception of surgical trainees towards M&M conferences.

The study is a questionnaire-based survey among surgical trainees of the Department of Surgery, Philippine General Hospital (PGH), for the training year of 2023. The survey consisted of 24 questions on their perception regarding the conduct of M&M. A Likert scale was used by the respondents to rate their perceptions (1 – negative, 10 – positive). Descriptive analysis and ANOVA were used to summarize the responses to the survey.

A total of 64 surgical trainees from the Department of Surgery responded to the survey (response rate = 71.9%). Most respondents (68.8%) reported that the ideal frequency of M&M conferences is once a month. 78.1% were not aware of the inclusion criteria of the cases discussed in the departmental M&M conferences. Most reported (64.1%) that M&M conferences did not regularly include data on outpatient events. A mean rating of 5.2 was observed among surgical trainees on how judgmental they feel about the environment of M&M conferences. Surgical trainees were willing to talk openly about their complications (mean rating 7.1). They were fearful of criticism (mean rating 4.4) and the negative repercussions of their presentations (mean rating 4.1) during M&M conferences. The respondents perceive M&M conferences to be conducive for learning and service improvement with both having a mean rating of 7.8. Most felt that M&M conferences focused on the individual performance (mean rating 7.3) while participants were divided regarding the focus on systems and processes (mean rating of 5.6). In terms of dissemination, about half (45.3%) mentioned that they did not know how the discussions/outcomes were disseminated following an M&M conference. The mean rating of willingness to talk openly of complications were significantly higher among senior residents (7.7) compared to junior residents (6.3) (p=0.008).

This study observed variability in the perceptions of surgical trainees on M&M conferences. Surgical trainees tend to feel fear of criticism and negative repercussions during M&M conferences. There are opportunities for improving the format of M&M in terms of clarity of inclusion criteria and dissemination, and focusing on systems and processes rather than individual faults.

BACKGROUND/OBJECTIVE

Although nutritional assessment tools have been available internationally, local data for their use in foreseeing adverse outcomes among admitted patients are currently unavailable. The primary objective of this study was to determine the association of nutritional status using Short Nutritional Assessment Questionnaire (SNAQ) and malnutrition risk using the MST (Malnutrition Screening Tool) with ICU admission and in-hospital mortality.

This was a prospective-cohort study which included 122 purposively-selected adult participants who were non-intubated, admitted for medical and surgical managements, stayed for at least 24 hours, had no COVID-19 infection, and were not admitted in any critical care unit. The SNAQ and MST questionnaires, which are validated tools and consists of  two to three easy-to-answer questions, were used among the participants and their scores were tallied in order to get their nutritional status and malnutrition risk. Primary endpoints measured were length of hospital stay, incidence of mortality, and ICU admission rate. Comorbidities were taken into account using the Charlson Comorbidity Index.

Categorizing the SNAQ scores showed 33.61% were severely malnourished which was similar when using the MST classification, wherein 34.43% were at risk of malnutrition. None of the participants were admitted to the intensive care unit (ICU). Malnutrition risk and nutritional status was not significantly associated with 30-day in-hospital mortality (p >0.05). On the other hand, results of the Cox proportional hazards showed that SNAQ and MST significantly predicted the hazard of 30-day in-hospital mortality, increasing the hazard of mortality by 2.58 times and 3.67 times, respectively, for every 1-unit increase in SNAQ and MST scores. Similarly, nutritional status using the SNAQ classification indicated the severely malnourished category significantly predicted the hazard of mortality, increasing it by 9.22 times for those who are severely malnourished. Also, malnutrition risk using the MST classification indicated that those who were at risk of malnutrition were 9.80 times at greater hazard of mortality than those who were not at risk of malnutrition.

The MST and SNAQ classification are screening tools for nutritional status (SNAQ) and malnutrition risk (MST) that can be administered at the onset of the patient’s hospital course and have been demonstrated in this study to predict 30-day in-hospital mortality. It is important to note that none of the patients included in this study required intensive care unit admission.

Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

BACKGROUND AND OBJECTIVE

The Oswestry Disability Index (ODI)–English is a valid and reliable instrument for disability measurement in low back pain (LBP) patients. There is no existing ODI–Ilokano that evaluates LBP patients. This study aimed to cross-culturally adapt the ODI–English into Ilokano.

The ODI–English was cross-culturally adapted into Ilokano through a process that included forward translation, synthesis of the translations, back translation, expert committee review, and testing of the pre-final version.

Forward translation focused on capturing the essence of terms related to pain intensity, personal care, and daily activities, achieving consensus on phrases that accurately mirrored the original English meanings. Subsequent synthesis refined these translations, emphasizing idiomatic and conceptual equivalence over literal interpretations, particularly in nuanced areas like sleep disturbance and social life activities. Backward translation processes aligned Ilokano and English terms, especially for pain intensity and personal care, ensuring consistency across languages. The expert committee review addressed spelling, word choice, and sentence structure, making strategic adjustments for cultural relevance. Pilot testing with participants from Ilocos Norte and Ilocos Sur, Philippines highlighted comprehension challenges with specific terms, leading to adaptations like replacing 'milya' and 'yarda' with metric units and retaining culturally sensitive terms with supplementary English explanations.

This study refined the ODI–English into a culturally adapted Ilokano version, focusing on semantic, idiomatic, and cultural equivalence. Incorporating pilot testing feedback, such as modifying measurement units and addressing sensitive terms, highlighted the thorough adaptation process. The collaborative translation efforts and diverse patient input ensured a culturally resonant ODI version for Ilokano speakers. This adaptation enhances physical therapy practices by improving patient assessments and advocates for adapting patient-reported outcomes to diverse cultures, advancing patient-centered care.

BACKGROUND

Due to the COVID-19 outbreak, schools had to switch online. The sudden transition to blended teaching and learning (BTL) poses challenges for students and teachers, especially for health science programs that require hands-on practical experience. The validity, reliability, and responsiveness of these self-report questionnaires (SRQs) should be established to ensure the accuracy of the results as intended by the SRQ.

This study critically appraised, compared, and summarized the psychometric properties of SRQ evaluating BTL among health science university students. This review determined the SRQ’s reliability, internal consistency, various forms of validity (content, criterion, construct), and responsiveness.

Following a 10-step procedure based on COSMIN guidelines, we conducted a systematic review of SRQs used by health science university students to evaluate blended teaching and learning. Studies were eligible if they reported psychometric properties of SRQs related to blended learning among university health science students; exclusions included studies focusing on perceptions, attitudes, self-efficacy, and satisfaction, as well as articles such as biographies, editorials, and conference materials. Searches covered multiple electronic databases until April 26, 2023, including PubMed, EMBASE, Web of Science, MEDLINE (OVID), PsycInfo, CINAHL, EBSCOHOST, ERIC, Scopus, Science Direct, Google Scholar, JSTOR, Acta Medica Philippina, Philippine Journal of Health Research and Development, and HERDIN, managed through Zotero. Two independent reviewers performed database searches, title and abstract screening, and full-text evaluations, with a third reviewer resolving any disputes. The COSMIN Risk of Bias Checklist was employed to evaluate included studies on the development and various measurement properties of SRQs. The reviewers assessed SRQ standards, including validity, reliability, internal consistency, measurement error, responsiveness, interpretability, and feasibility. Data extraction and result tabulation were independently completed, with content comparison by two health education experts. This evaluation categorized the SRQs into three quality and validity levels.

The study examined five articles; four were rated as 'doubtful' and one as 'inadequate' in the overall development of SRQ. All four 'doubtful' studies demonstrated questionable content validity when university students were asked about the questionnaire's relevance, comprehensiveness, and comprehensibility. Only half of these studies achieved an 'adequate' rating for content validity based on expert opinions on relevance and comprehensiveness. All but one study scored from 'very good' to 'adequate' in structural validity. Three out of the four studies scored a very good rating for internal consistency, while one was deemed 'inadequate' in internal consistency, cross-cultural validity, and reliability. Three out of four studies scored 'very good' on construct validity, but all overlooked criterion validity and responsiveness. Conducted in various locations, including Australia, Romania, Turkey, and Taiwan, these studies highlighted both common characteristics and limitations in questionnaire development according to the COSMIN guidelines. Four studies were deemed reliable and valid for BTL constructs (Category A); Wu et al. requires further validation (Category B). Study limitations included heterogeneity in populations, settings, and questionnaire versions, potential subjective bias in SRQ content comparison, and the evolving nature of SRQs in blended learning contexts.

The systematic review reports the development and evaluation of SRQs for BTL while identifying gaps in their applicability to health science programs. The Blended Learning Scale (BLS) of Lazar et al. and the Blended Learning Questionnaire (BLQ) of Ballouk et al. showed an ‘adequate' rating for content validity. BLS revealed very good structural validity, internal consistency, and adequate content validation. Although the BLQ lacked Confirmatory Factor Analysis, it yielded valuable constructs for evaluating health sciences students' experiences in BTL. Both tools require improvements on recall period, completion time, interpretability, and feasibility. The review underscores the necessity for cont inuous assessment and enhancement of such instruments in BTL, advocating a rigorous scale development process. Furthermore, it encourages the customization of teaching and learning evaluation tools to suit specific institutional contexts while promoting further validation of these questionnaires across different populations in future research.

OBJECTIVES: To revise and evaluate the psychometric properties of the Chinese version of the Wong and Law's Emotional Intelligence Scale (WLEIS). METHODS: The 11 items of the original WLEIS were modified to form the WLEIS-CR, with the Generalized Anxiety Disorder Scale (GAD-7), 9-item Patient Health Questionnaire (PHQ-9), and Flourishing Scale (FS) as the validity criteria. A total of 1546 adult participants were evaluated using all these scales, and a retest was conducted among 192 college students to assess the item discrimination, reliability, validity and measurement invariance of the modified WLEIS-CR. RESULTS: All the 16 items of the modified WLEIS-CR demonstrated good discriminative power (r=0.570 -0.764, P<0.001). The structural equation model from a confirmatory factor analysis showed excellent fit indices (χ²/df=4.610, GFI=0.965, PGFI=0.674, RMR=0.028, NFI=0.975, CFI=0.980, RMSEA=0.048). The criterion-related validity of the modified WLEIS-CR with FS, GAD-7, and PHQ-9 was 0.674, -0.347, and -0.368, respectively (P<0.001). The internal consistency (Cronbach's α) was 0.913 for the total scale and ranged from 0.867 to 0.916 for the subscales. The split-half reliability was 0.956 for the total scale and 0.865-0.924 for the subscales. Test-retest reliability was 0.701 for the total scale and 0.610-0.684 for the subscales. Normative interpretation criteria were established: 7.6% of participants had "low", 19.3% had "below average", 22.3% had "moderate", 34.3% had "above average", and 16.5% had "very high" emotional intelligence. The scale demonstrated a good measurement invariance across gender, identity, and age groups. CONCLUSIONS The modified WLEIS-CR has good reliability, validity and measurement invariance, and is suitable for evaluating emotional intelligence of Chinese adults to assess their emotional health.
Humans ; Psychometrics ; Emotional Intelligence ; Young Adult ; Adult ; Male ; Female ; Surveys and Questionnaires ; Reproducibility of Results ; Adolescent

OBJECTIVE: To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics. METHODS: A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing. This study was approved by the Medical Ethics Committee of Xuzhou Maternity and Child Health Care Hospital (Ethics No.XZFY2024-051K-01J). RESULTS: A total of 691 712 neonates were screened for UCDs using MS/MS, which identified 1 237, 1 237, 510, and 1 009 initial positive cases for OTCD, CPS1D, ASSD, and ARGD, respectively. After genetic testing, 1 case of OTCD, 1 case of CPS1D, 1 case of ASSD, and 7 cases of ARGD were confirmed. The overall positive predictive value for these four UCDs was 0.362%. Among the 10 diagnosed UCD cases, four novel variants were identified, which included OTC: c.1024C>A (p.L342M) and ASS1: c.826A>G (p.M276V), c.695C>T (p.P232L) and c.694C>T (p.P232S). Bioinformatic analysis has rated these as variants of uncertain clinical significance or likely pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The incidence of four UCDs in neonates from the Xuzhou area is relatively low, and there is a correlation between genetic variants and clinical phenotypes. For novel variants with uncertain clinical significance or suspected pathogenicity, their pathogenicity should be clarified in conjunction with clinical and biochemical indicators. The four novel pathogenic variants of UCDs identified in this study have enriched the mutational spectrum of UCDs-associated genes in the Xuzhou region.
Humans ; Infant, Newborn ; Tandem Mass Spectrometry/methods* ; Urea Cycle Disorders, Inborn/diagnosis* ; Neonatal Screening/methods* ; Genetic Testing/methods* ; Female ; Retrospective Studies ; Male ; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis* ; Mutation ; Carbamoyl-Phosphate Synthase (Ammonia)/genetics* ; Ornithine Carbamoyltransferase/genetics*

OBJECTIVE: To investigate the predictive value of early lactate/albumin ratio (LAR) combined with quick sequential organ failure assessment (qSOFA) for the 28-day prognosis of patients with sepsis caused by emergency community-acquired pneumonia (CAP). METHODS: The clinical data of patients with sepsis caused by CAP admitted to the department of emergency of Beijing Haidian Hospital from June 2021 to August 2022 were retrospectively analyzed, including gender, age, comorbidities, lactic acid (Lac), serum albumin (Alb), LAR, procalcitonin (PCT) within 1 hour, and 28-day prognosis. Patients were divided into two groups based on 28-day prognosis, and risk factors affecting patients' prognosis were analyzed using univariate and multivariate Cox regression methods. Patients were divided into two groups according to the best cut-off value of LAR, and Kaplan-Meier survival curves were used to analyze the 28-day cumulative survival of patients in each group. Time-dependent receiver operator characteristic curve (ROC curve) were plotted to analyze the predictive value of sequential organ failure assessment (SOFA), acute physiology and chronic health evaluation II (APACHE II), and qSOFA+LAR score on the prognosis of patients with sepsis caused by CAP at 28 days. The area under the curve (AUC) was calculated and compared. RESULTS: A total of 116 patients with sepsis caused by CAP were included, of whom 80 survived at 28 days and 36 died, 28-day mortality of 31.0%. There were no statistically significant differences in age, gender, comorbidities, pH, platelet count, and fibrinogen between the survival and death groups, and there were significantly differences in blood urea nitrogen (BUN), white blood cell count (WBC), hemoglobin, Lac, Alb, PCT, D-dimer, LAR, as well as qSOFA score, SOFA score, and APACHE II score. Univariate Cox regression analyses showed that BUN, WBC, pH, Lac, Alb, PCT, LAR, qSOFA score, SOFA score, and APACHE II score were associated with mortality outcome. Multifactorial Cox regression analysis of the above variables showed that BUN, WBC, PCT, and APACHE II score were independent risk factors for 28-day death in the emergency department in patients with sepsis caused by CAP [hazard ratio (HR) were 1.081, 0.892, 1.034, and 1.135, respectively, all P < 0.05]. The best cut-off value of early LAR for predicting the 28-day prognosis of sepsis patients was 0.088, the Kaplan-Meier survival curve showed that the 28-day cumulative survival rate of sepsis patients in the LAR ≤ 0.088 group was significantly higher than that in the LAR > 0.088 group [82.9% (63/76) vs. 42.5% (17/40), Log-Rank test: χ² = 22.51, P < 0.001]. The qSOFA+LAR score was calculated based on the LAR cut-off value and qSOFA score, and ROC curve analysis showed that the AUCs of SOFA score, APACHE II score, and qSOFA+LAR score for predicting 28-day death of patients with sepsis caued by CAP were 0.741, 0.774, and 0.709, respectively, with the AUC of qSOFA+LAR score slightly lower than those of SOFA score and APACHE II score, but there were no significantly differences. When the best cut-off value of qSOFA+LAR score was 1, the sensitivity was 63.9% and the specificity was 80.0%. CONCLUSION The qSOFA+LAR score has predictive value for the 28-day prognosis of patients with sepsis caused by CAP in the emergency department, its predictive value is comparable to the SOFA score and the APACHE II score, and it is more convenient for early use in the emergency department.
Emergency Service, Hospital/statistics & numerical data* ; Sepsis/etiology* ; Prognosis ; Community-Acquired Pneumonia/mortality* ; Organ Dysfunction Scores ; Predictive Value of Tests ; Lactic Acid/blood* ; Serum Albumin, Human/analysis* ; Biomarkers/blood* ; Retrospective Studies ; Hospital Mortality ; Kaplan-Meier Estimate ; APACHE ; Procalcitonin/blood* ; ROC Curve ; Area Under Curve ; Humans