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INTRODUCTION: Congenital short bowel syndrome (CSBS) is a rare congenital gastrointestinal disease and defined as a shortage of consecutive small bowel length present from birth. This syndrome is often accompanied by intestinal malrotation, reduction of peristalsis, and malabsorption. CASES PRESENTATION: This article reports on siblings carrying the Filamin A (FLNA) genetic mutation with CSBS The first case involved a child admitted to the hospital due to intestinal obstruction, undergoing four surgeries due to intestinal torsion with the remaining length of the small intestine only 60 cm, ultimately resulting in the child's death. The second case is a sibling of the first case, admitted to the hospital due to recurrent abdominal pain, diarrhea, and weight loss. With our previous experience, we conducted genetic testing for the filamin A gene (FLNA), revealing that both siblings and their mothers carried a mutation in the gene. CLINICAL DISCUSSION: The diagnosis can be indirectly based on the upper gastrointestinal tract contrast study, however, most of diagnoses are confirmed by exploratory surgery. There is no consensus on nutritional treatment guidelines for infants with congenital short-bowel syndrome. Bowel lengthening procedures have not been recommended for infants with CSBS. A lot of disease-causing mutations have been recorded as CXADR-like membrane protein (CLMP) and FLNA. CONCLUSION: Congenital short bowel syndrome is a rare condition with a poor prognosis. It requires multidisciplinary coordination for effective diagnosis and treatment. Ongoing research into genetic mutations like CLMP and FLNA is vital for understanding CSBS and enhancing patient care.
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OBJECTIVES: This study aims to examine the sources of stress among first-year medical students; the frequency of their coping strategies; the factors associated with specific stressors and specific coping strategies adopted by the participants. METHODS: We conducted a cross-sectional study with 409 first-year students at the University of Medicine and Pharmacy, Vietnam. The Vietnamese versions of the Higher Education Stress Inventory (V_HESI) and Brief Coping Orientation to Problems Experienced (V_Brief COPE) were validated and were used as measurement instruments for participants' sources of stress and coping strategies frequencies. The survey comprised questions of socioeconomic status, stress-related issues, the six sources of stress (using the V_HESI), and the nine coping strategies (using the V_Brief COPE). RESULTS: Among the six sources of stress, "Worries about future competence/endurance" had the highest mean score (3.02±0.64), while "Mismatch in professional role expectations" had the lowest score (1.60±0.53). "Financial concerns" and "Academic workloads" were also significant sources of stress. Regarding coping strategies, Self-distraction was most frequently adopted by the participants (2.80 ± 0.68). Problem-solving (2.72±0.53) and seeking Social support (2.62±0.70) were also common adaptive strategies. Avoidance (1.87±0.55) and substance-use (1.27±0.55) were the least frequent strategies. Students who experienced acute stress event were more likely to have financial concerns compared to others. Substance use was positively associated with stressors from "Mismatch in professional role expectations", "Non-supportive educational environment", "Having physical issues" and "Having part-time job". Self-blame was more frequent among students with "Worries about future competence/endurance", "Financial concerns", and "Academic workload". Male student tended to adopt humor strategy (ß = 0.19, p = 0.02), while less likely to utilize religious practices (ß = -0.21, p = 0.01). CONCLUSIONS: Two-thirds of the participants reported moderate to high levels of stress. "Worries about future competence/endurance" was the most concerned stressor, followed by "Academic workload", and "Financial concerns". The first-year medical students reported high frequency of utilization "Self-distraction", "Problem-solving" and "Social support" when confronting stress. The findings may help inform the school management to better support students' well-being.
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Adaptación Psicológica , Estrés Psicológico , Estudiantes de Medicina , Humanos , Estudiantes de Medicina/psicología , Masculino , Femenino , Vietnam , Estrés Psicológico/psicología , Estudios Transversales , Adulto Joven , Adulto , Encuestas y Cuestionarios , Apoyo Social , Habilidades de Afrontamiento , Pueblos del Sudeste AsiáticoRESUMEN
BACKGROUND: Pubertal timing is modulated by complex interactions between the pituitary and gonadal sex steroid hormones. Evidence indicates that sphingolipids are involved in the biosynthesis of steroid hormones at multiple levels. METHOD: This study recruited adolescent female patients from pubertal and pediatric endocrine clinics in Northern and Southern Taiwan from the Taiwan Puberty Longitudinal Study. A total of 112 plasma samples (22 healthy control, 29 peripheral precocious puberty (PPP), and 61 CPP samples) were collected. We extracted lipids from the plasma samples using the modified Folch method. The un-targeted ultrahigh-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) was employed for the lipid analysis. RESULTS: We identified sphingolipid-linked metabolites, including Cer(18:0/15:0), Cer(18:1/16:0), and Cer(18:1/26:0) as candidate biomarkers for distinguishing girls with CPP from the control group by using an excellent discrimination model (AUC = 0.964). Moreover, Cer(18:0/22:0) and Cer(d18:0/18:1) were identified as potential biomarkers of PPP, with an AUC value of 0.938. Furthermore, CerP(18:1/18:0) was identified as the sole candidate biomarker capable of differentiating CPP from PPP. CONCLUSIONS: The biomarkers identified in this study can facilitate the accurate detection of CPP in girls, provide insights into lipid-linked pathophysiology, and present a novel method of monitoring the progression of this disorder.
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OBJECTIVE: Stress is a significant concern in medical education, and identifying effective ways to deal with stress may help with students' mental health and professional development. This study aimed to examine the effects of the Transforming Stress Program (TSP) amongst first-year medical students on their stress mindset and coping strategies when confronted with stressors. METHODS: We conducted a quasi-experimental study at the University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam. A total of 409 first-year students at the Faculty of Medicine were divided into intervention group (205 students) and control group (204 students). The 10-week TSP was delivered as an extra-curricular course. The training adopts psychoeducation based on Dialectical Behavioral Therapy with mindfulness as a fundamental practice incorporated into each component of the program. The intervention group received the training in the first semester; the control group received identical program in the second semester. Stress Mindset Measurement and Brief Coping Orientation to Problems Experienced were measured before the intervention (T0), immediately after intervention on Intervention group (T1), and six months after intervention on Intervention group (T2). RESULTS: At T1, the intervention group showed 65% improvements in stress mindset scores and increases in coping strategies scores in six domains (Problem solving, Social support, Humor, Religion, Venting, and Self-distraction) and decreases in three (Avoidance, Substance use, and Self-blame). The effect sizes were significant in all outcomes (Cohen's d > 0.2). Measurements of the control group did not change significantly in the same period. At T2, effects of the TSP were found decreased in some domains (Avoidance, Substance use, and Self-blame) compared to T1, but largely remained significantly better than T0. CONCLUSIONS: The TSP is a feasible and effective approach that significantly enhanced medical students' stress mindset and coping strategies. Some effects were still observable 6 months after the intervention. The relatively intensive intervention requires support of the school administration and staff.
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Estudiantes de Medicina , Humanos , Adaptación Psicológica , Salud Mental , Instituciones Académicas , Terapia ConductistaRESUMEN
Asian children are increasingly being diagnosed with type 1 diabetes (T1D) or type 2 diabetes (T2D), and the presence of coexisting islet autoimmune antibodies complicate diagnosis. Here, we aimed to determine the prevalence of islet cell autoantibodies (ICAs) and glutamic acid decarboxylase 65 autoantibodies (GADAs) in children with T1D versus T2D living in Vietnam. This cross-sectional study included 145 pediatric patients aged 10.3 ± 3.6 years, with 53.1% and 46.9% having T1D and T2D, respectively. ICAs were reported in only 3.9% of pediatric T1Ds, which was not significantly different from the 1.5% of those with T2D. Older children with T1D were positive for either ICAs, or ICAs and GADAs (5-9 and 10-15 years), whereas only a small proportion of children aged 0-4 years were positive for GADAs (18%). Notably, 27.9% of children with T2D aged 10-15 were positive for GADAs, and all were classified as overweight (n = 9) or obese (n = 10). GADAs were more commonly observed in T1D patients younger than four years than ICAs, which were more prevalent in older children (5-15 years). Even though few children with T2D carried ICAs and GADAs, finding a better biomarker or an appropriate time to confirm diabetes type may require further investigation.
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PURPOSE: Cranial magnetic resonance imaging (MRI) is recommended to identify intracranial lesions in girls with central precocious puberty (CPP). Yet, the use of routine MRI scans in girls with CPP is still debatable, as pathological findings in girls 6 years of age or older with CPP are limited. Therefore, we aimed to identify the prevalence of brain lessons in CPP patients stratified by age group (0-2, 2-6, and 6-8 years). METHODS: This retrospective cross-sectional study recruited 257 girls diagnosed with CPP for 6 years (2010-2016). MRI was used to detect brain abnormalities. Levels of luteinizing hormone, follicle-stimulating hormone, and sex hormones in blood samples were measured. RESULTS: Most girls had no brain lesions (82.9%, n=213), and of the minor proportion of girls with CPP that exhibited brain lesions (17.1%, n=44), 32 girls had organic CPP. Pathological findings were detected in 33.3% (2 of 6) of girls aged 0-2 years, 15.6% (5 of 32) of girls aged 2-6 years, and 3.6% (8 of 219) of girls aged 6-8 years. Hypothalamic hamartoma and tumors in the pituitary stalk were the most common pathological findings. The likelihood of brain lesions decreased with age. Girls with organic CPP were more likely to be younger (6.1±2.4 vs. 7.3±1.3 years, p<0.01) than girls with idiopathic CPP. CONCLUSION: Older girls appeared to have a lower prevalence of organic CPP. Clinicians should cautiously use cranial MRI for girls aged 6-8 years with CPP.
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BACKGROUND: A brief gonadotropin-releasing hormone analogues (GnRHa) stimulation test which solely focused on LH 30-minute post-stimulation was considered to identify girls with central precocious puberty (CPP). However, it was tested using traditional statistical methods. With advanced computer science, we aimed to develop a machine learning-based diagnostic model that processed baseline CPP-related variables and a brief GnRHa stimulation test for CPP diagnosis. METHODS: We recruited girls suspected of precocious puberty and underwent a GnRHa stimulation test at Children Hospital 2, Vietnam, and Cathay General Hospital, Taiwan. Clinical data, bone age measurement, and 30-min post-stimulation blood test were used to build up the predictive model. The candidate model was developed by different machine learning algorithms that were mainly evaluated by sensitivity, specificity, the area under the receiver operator characteristic curve (AUC), and F1-score in internal and external validation data to classify girls as CPP and non-CPP at different time-points (0-min, 30-min, 60-min, and 120-min post-stimulation). RESULTS: Among the 614 girls diagnosed with PP, 524 (85.3%) had CPP. The random forest algorithm yielded the highest value of F1-score (0.976), specificity (0.893), positive predicted value (0.987), and relatively high value of AUC (0.972) that contributed to high probability to identify CPP. The performance metrics of the 30-min post-stimulation diagnostic model including sensitivity and specificity surpassed those of the 0-minute model (0-min) and were equivalent to those of the model obtained 60-min and 120-min post-stimulation. Hence, our machine learning-based model helps shorten the stimulation test to 30 minutes after GnRHa injection, in general, it requires 120 minutes for a completed GnRHa stimulation test. CONCLUSIONS: We developed a diagnostic model based on clinical features and a single sample 30-minute post-stimulation to identify CPP in girls that can reduce distress for children caused by multiple blood samplings.
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Diagnóstico por Computador , Hormona Liberadora de Gonadotropina/sangre , Aprendizaje Automático , Modelos Biológicos , Pubertad Precoz , Niño , Femenino , Humanos , Pubertad Precoz/sangre , Pubertad Precoz/diagnóstico , Taiwán , VietnamRESUMEN
Among the genetic and environmental risk factors, nutrition plays a crucial role in determining the timing of puberty. Early menarche onset (EMO) is defined as when girls reach menarche onset at an age which is earlier than the mean/median age of menarche, between 12 and 13 years of age, according to individual ethnicity. The present study examined the association between nutrient intake in childhood and EMO risk in healthy girls by performing a systematic review and meta-analysis of prospective studies. We screened EMBASE, Cochrane Library, PubMed/MEDLINE, and Web of Science databases for 16 eligible studies with all medium-to-high quality scores ranging from 3 to 5 of 6 possible points with 10,884 subjects. Higher intakes of energy (risk ratio (RR) = 3.32, 95% confidence interval (CI) = 1.74-6.34, I2 = 97%), and protein (RR = 3.15, 95% CI = 2.87-3.44, I2 = 0%) were associated with EMO risk. For each additional 1 g/day animal protein intake in childhood, the age at menarche was approximately two months earlier (ß = -0.13, I2 = 55%), and high iron intake was associated with EMO (RR = 1.20, 95% CI = 1.03-1.40, I2 = 0%). Polyunsaturated fatty acid (PUFAs) intake was associated with EMO risk with a dose-response effect (RR = 1.25, 95% CI = 1.05-1.49, I2 = 44%). Girls with a high intake of fiber and monosaturated fatty acids (MUFAs) in childhood experienced later menarche onset (RR = 0.83, 95% CI = 0.69-1.00, I2 = 31%; RR = 0.66, 95% CI = 0.50-0.86, I2 = 0%, respectively). Thus, adherence to a high intake of animal proteins-, iron- and PUFA-rich food diet makes girls more likely to have EMO, while a high intake of fiber- and MUFA-rich foods may protect girls from EMO. Further studies are expected to investigate the role of specific types of PUFAs and MUFAs on EMO to promote healthy sexual maturity in girls.