OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

BACKGROUND

Blood pressure is an important vital sign measured not only in hypertension but also among hospitalized patients for clinical evaluation of the actual hemodynamic status. In the digital era, mercury and aneroid sphygmomanometers are being replaced by automated monitors despite lacking validation and recommendations for their use, especially in acute illness.

To compare automated and manual blood pressure measurement among hospitalized medical patients with acute illness.

A crossover design was used in a single tertiary hospital. Blood pressure was recorded from 216 participants, with 432 observations from an automated monitor (Omron HBP1120) and a mercury sphygmomanometer. Automated and manual BP recordings were done twice following the same arm sequential method. The average of the two recordings was used for comparison.

Most participants were female, elderly, obese, and had cardiac complaints. Comparing automated and manual methods, the mean difference for systolic was 1.47 ± 12.12 (p = 0.08) and 1.82 ± 10.99 (p=0.02) for diastolic. Subgroup analysis revealed that males had higher manual systolic BP than females (pairwise p-value= 0.017). Overweight and obese participants had higher automated systolic and diastolic BP (p=0.04). Overweight and obese participants had significantly higher systolic and diastolic BP regardless of the method. Significantly higher diastolic BP for different age groups and areas of admission (p=0.02) were observed from the automated method.

Automated BP monitoring showed a significant difference in diastolic BP recordings. Automated BP monitors should be used with caution, especially in interpreting diastolic BP among hospitalized patients.

OBJECTIVES

This study aims to describe the micronutrient intake and diet quality of overweight and obese Filipino adults in the National Capital Region (NCR). Specifically, it seeks to assess micronutrient inadequacy among these individuals and analyze differences in food intake based on their sociodemographic profiles and lifestyle habits.

This analytical cross-sectional study utilized data from the Expanded National Nutrition Survey (ENNS) conducted in 2018, 2019, and 2021 by the Department of Science and Technology-Food and Nutrition Research Institute (DOST-FNRI). A total of 3,154 overweight and obese subjects were included. ANOVA and Kruskal-Wallis tests were employed to analyze the food groups consumed by these adults.

Majority of overweight and obese adults were found to be inadequate in vitamin A (81.7%), vitamin C (88.4%), thiamin (62.5%), riboflavin (70.7%), iron (69.8%), and calcium (88.7%). Significant differences were observed in the mean intake of various food groups across different age groups, sexes, civil statuses, wealth quintiles, educational attainments, employment statuses, and smoking and drinking statuses.

Filipino adults who are overweight and obese, and residing in urban settings face significant challenges related to micronutrient inadequacy. When their food intake was assessed based on sociodemographic and lifestyle characteristics, it was found that their diets were more calorie-dense than nutrient-dense. To address this issue, it is recommended to encourage a wider variety of nutrient-dense foods among overweight and obese adults.

BACKGROUND

Heart rate variability (HRV) is a common tool for assessing autonomic nervous system activity and monitoring training load in athletes. However, limited research has explored how HRV responds to different forms of resistance training, particularly in high-intensity intermittent sports like basketball and football.

This study aims to compare the acute HRV responses between neuromuscular and metabolic training in collegiate athletes involved in high-intensity intermittent sports.

A comparative cross-sectional study with a quasi-experimental crossover design will be employed.

Collegiate athletes will be randomly assigned to undergo both neuromuscular and metabolic training sessions with a one-week wash-out period in between. HRV data will be recorded using the Polar H10 chest strap during each session.

Descriptive statistics will summarize salient participant characteristics and HRV measurements. Inferential analysis will use paired t-tests or Wilcoxon signed-rank tests based on normality, assessed via the Kolmogorov-Smirnov test. All statistical analyses will be conducted using the IBM SPSS (ver.25) with a confidence interval set. at 95% and a critical α equal to 0.05.

Neuromuscular training is expected to elicit higher low-frequency (LF) power and an increased LF/HF ratio, reflecting greater sympathetic activation, while metabolic training is expected to show lower LF power and a decreased LF/HF ratio, indicating a more balanced autonomic response. These findings will offer insights into the differential autonomic impacts of these training modalities.

OBJECTIVE

This study aimed to determine the association between Asia-Pacific classification of body mass index, waist circumference and waist hip ratio and clinical outcomes of COVID-19 moderate & severe patients at the height of the COVID-19 pandemic.

A This study involved adult patients diagnosed with COVID-19. 182 patients were analyzed and divided into 167 moderate and 15 severe COVID-19 patients. Primary outcomes (respiratory decompensation, septic shock, and mortality) of patients were compared among Asia Pacific BMI groups.

Among patients with moderate and severe COVID-19, 7 out of 10 patients were obese. Respiratory decompensation and sepsis were more frequently seen in obese patients. Obesity and waist circumference were significantly associated with the odds of respiratory decompensation (95% CI p=0.010 and p=0.002), however this association was not sustained upon adjustment for confounders. On univariate analysis, waist and hip circumferences were significantly associated with the odds of ICU admission (95% CI, p=.013 and p=.034), however after controlling for confounders, only hip ratio retained significant association. Among patients with severe COVID-19, there was insufficient evidence to support significant variations in distributions of outcomes of interest across Asia-Pacific BMI groups.

Our study emphasized that although respiratory decompensation and sepsis were more frequently seen in obese patients. progression of respiratory decompensation and mortality is not significantly associated with obesity as defined by the Asia Pacific BMI classification, warranting the need for larger prospective studies.

INTRODUCTION: Visual impairment and obesity remain the major public health issues among school-age students in rural areas of China. Obesity is an underlying risk of vision problems. This study aimed to assess the association between visual impairment and body mass index (BMI) among school-age students in rural northwest China. METHODS: This study included 39,385 students from the 4 th to 9 th grade in rural northwest China. From 2018 to 2020, students underwent an assessment of visual acuity (VA) and completed a questionnaire on family demographics, and height and weight measurements. Multiple logistic regression analyses were used to analyse the data. RESULTS: The association between visual impairment and BMI groups was significant in the study population ( P = 0.002) and in different groups (at the different educational, provincial and national levels) ( P < 0.001, separately). Multiple logistic regression analyses revealed a positive relationship between visual impairment and obesity in the study population, including those attending primary school, Han students and the residents of Ningxia autonomous region. CONCLUSION The association between visual impairment and obesity was significant among school-age students in rural northwest China. There should be implementation of policies to address the problem about visual impairment and obesity among school-age students in rural areas.
Humans ; China/epidemiology* ; Body Mass Index ; Male ; Female ; Rural Population ; Vision Disorders/complications* ; Child ; Adolescent ; Students ; Surveys and Questionnaires ; Logistic Models ; Obesity/complications* ; Visual Acuity ; Cross-Sectional Studies

OBJECTIVE: To evaluate the clinical efficacy of ultrasound-guided acupuncture at myofascial trigger points (MTrPs) on treating post-stroke foot drop. METHODS: Sixty patients with post-stroke foot drop were randomly assigned to an observation group 1 (20 cases, 1 case dropped out), an observation group 2 (20 cases, 2 casses dropped out), and a control group (20 cases). The control group received conventional acupuncture at Yanglingquan (GB34), Jiexi (ST41), Taichong (LR3), Zusanli (ST36), Xuanzhong (GB39), and Qiuxu (GB40) on the affected side, once daily. In addition to the treatment of the control group , the observation group 1 received acupuncture at the tibialis anterior and gastrocnemius MTrPs, once every other day, while the observation group 2 received ultrasound-guided acupuncture at the tibialis anterior and gastrocnemius MTrPs, once every other day. All groups were treated for two weeks. Three-dimensional gait analysis was performed using an infrared motion capture system, and the Holden walking scale was used to evaluate walking ability before and after treatment in the three groups. RESULTS: Compared before treatment, the patients in the observation groups 1 and 2 showed increased walking speed (P<0.05, P<0.01), and improved Holden walking scale grades (P<0.05, P<0.01) after treatment; the patients in the observation group 2 also showed increased ankle dorsiflexion angles (P<0.05). The walking speeds of the observation groups 1 and 2 were faster than those of the control group after treatment (P<0.05), the Holden walking scale grade in the observation group 2 was superior to that in the control group (P<0.05). CONCLUSION The ultrasound-guided acupuncture at MTrPs could effectively improve gait function in post-stroke foot drop patients.
Humans ; Acupuncture Therapy ; Male ; Female ; Middle Aged ; Stroke/physiopathology* ; Aged ; Trigger Points/physiopathology* ; Gait ; Acupuncture Points ; Adult ; Ultrasonography ; Treatment Outcome ; Gait Disorders, Neurologic/etiology*

OBJECTIVE: To observe the efficacy of "Biaoben acupoint compatibility" moxibustion for abdominal obesity and its effect on blood lipid, lipid accumulation product (LAP) and cardiometabolic index (CMI). METHODS: A total of 150 patients with abdominal obesity were randomly divided into an observation group (75 cases, 5 cases dropped out) and a control group (75 cases, 6 cases dropped out). The control group received lifestyle guidance. The observation group received "Biaoben acupoint compatibility" moxibustion at Zhongwan (CV12), Guanyuan (CV4) and bilateral Tianshu (ST25), Zusanli (ST36) on the basis of the control group, 20 min each time, once every other day, 3 times a week for 8 weeks. Before and after treatment, the waist circumference, hip circumference, weight, body mass index (BMI) were observed, the levels of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) were measured, and the LAP and CMI were calculated in the two groups. RESULTS: After treatment, the waist circumference, weight and BMI were decreased compared with those before treatment in both groups (P<0.05), the changes of the above indexes in the observation group were larger than those in the control group (P<0.05). After treatment, the hip circumference, TC level, TG level, LAP and CMI in the observation group were decreased compared with those before treatment (P<0.05), the HDL-C level was increased compared with that before treatment (P<0.05)；the changes of the TC level, TG level, LAP, CMI and HDL-C level in the observation group were larger than those in the control group (P<0.05). CONCLUSION "Biaoben acupoint compatibility" moxibustion can reduce the degree of obesity in patients with abdominal obesity, and improve blood lipid and reduce lipid accumulation.
Humans ; Acupuncture Points ; Moxibustion ; Male ; Female ; Middle Aged ; Obesity, Abdominal/blood* ; Adult ; Lipids/blood* ; Lipid Metabolism ; Triglycerides/blood* ; Young Adult ; Treatment Outcome ; Aged

OBJECTIVE: To observe the clinical efficacy of acupoint thread-embedding for overweight and obese young adults with phlegm-dampness constitution. METHODS: A total of 66 young adults with overweight and obesity of phlegm-dampness constitution were randomly divided into an observation group (33 cases, 2 cases dropped out, 1 case was discontinued) and a control group (33 cases, 3 cases dropped out). Health education guidance was adopted in the control group. On the basis of the intervention in the control group, acupoint thread-embedding was applied in the observation group, two groups of acupoints were used alternately, i.e. bilateral Tianshu (ST25), Daheng (SP15), Daimai (GB26), Shuidao (ST28), Huaroumen (ST24), Fenglong (ST40) and bilateral Feishu (BL13), Geshu (BL17), Weiwanxiashu (EX-B3), Pishu (BL20), Shenshu (BL23), Dachangshu (BL25), once a week. Treatment of 8 weeks was required in the two groups. Before treatment, after 4 weeks and 8 weeks of treatment, the body weight, body fat rate, waist circumference and hip circumference were measured, and the body mass index (BMI) was calculated in the two groups; before and after treatment, the phlegm-dampness constitution score and the heart rate variability (HRV) related indexes (total power [TP], low frequency [LF], high frequency [HF], LF/HF, standard deviation of the normal to normal inter beat intervals [SDNN], root mean square of the successive differences [RMSSD], percentage of normal RR intervals with duration [PNN50]) were observed, and the clinical efficacy and constitution improvement rate were compared in the two groups. Six months after the treatment completion, the body weight of patients with effective clinical efficacy was observed, and the body weight rebound rate was compared in the two groups. RESULTS: After 4 weeks of treatment, the body weight, BMI, body fat rate, waist circumference and hip circumference were decreased compared with those before treatment in the two groups (P<0.05); after 8 weeks of treatment, the body weight, BMI, body fat rate, waist circumference and hip circumference were decreased compared with those before treatment and after 4 weeks of treatment in the observation group (P<0.05), and the body weight was decreased compared with that before treatment in the control group (P<0.05). After 8 weeks of treatment, the body weight, BMI, waist circumference, hip circumference and phlegm-dampness constitution score in the observation group were lower than those in the control group (P<0.05). The differences in the body weight, BMI, body fat rate, waist circumference and hip circumference between before treatment and after 4 weeks of treatment, as well as after 4 weeks of treatment and after 8 weeks of treatment in the observation group were higher than those in the control group (P<0.05). After treatment, the TP, LF, HF, SDNN and RMSSD in the observation group were higher than those in the control group (P<0.05). After treatment, the total effective rate was 90.0% (27/30) in the observation group, which was higher than 46.7% (14/30) in the control group (P<0.05); the improvement rate of phlegm-dampness constitution was 90.0% (27/30) in the observation group, which was higher than 50.0% (15/30) in the control group (P<0.05). Six months after treatment completion, the weight rebound rate was 37.0% (10/27) in the observation group, which was lower than 71.4% (10/14) in the control group (P<0.05). CONCLUSION Acupoint thread-embedding can effectively reduce the body weight, BMI, waist circumference, hip circumference and improve the phlegm-dampness constitution in overweight and obese young adults with phlegm-dampness constitution, regulate autonomic nerve disorders and improve vagus nerve activity, and has a certain long-term effect.
Humans ; Acupuncture Points ; Female ; Male ; Adult ; Obesity/physiopathology* ; Young Adult ; Acupuncture Therapy ; Overweight/physiopathology* ; Treatment Outcome ; Adolescent

OBJECTIVE: To observe the efficacy and safety of moxibustion in treating patients with central obesity of phlegm-dampness constitution. METHODS: A total of 66 patients with central obesity of phlegm-dampness constitution were randomly assigned to a moxibustion group (n=33, 3 cases dropped out) and a sham moxibustion group (n=33, 4 cases dropped out). The moxibustion group received mild moxibustion combined with lifestyle intervention; the moxibustion was applied at Shenque (CV8) and bilateral Zusanli (ST36), 30 min per session, maintaining a local skin temperature of (43±1) ℃. The sham moxibustion group received simulated moxibustion combined with lifestyle intervention; the simulated moxibustion was applied at the same acupoints, with the same session length, but with a maintained skin temperature of (37±1) ℃. Both groups were treated once every other day, three times per week for 8 consecutive weeks. Obesity-related physical indicators (waist circumference, hip circumference, body weight, body fat percentage, body mass index [BMI]), constitution evaluation indicators (phlegm-dampness constitution conversion score, symptom score), the impact of weight on quality of life-lite (IWQOL-Lite), the hospital anxiety and depression scale (HADS), and the incidence of adverse events were measured before and after treatment, and after 4 weeks of follow-up. RESULTS: Compared with before treatment, both groups showed significant reductions in waist circumference, hip circumference, body weight, body fat percentage, BMI, phlegm-dampness constitution conversion score and symptom score, IWQOL-Lite, and both anxiety and depression subscale scores of HADS after treatment and at follow-up (P<0.001). These improvements were significantly greater in the moxibustion group than those in the sham moxibustion group (P<0.001, P<0.01, P<0.05). One patient in the moxibustion group experienced a mild burn that resolved with routine care; the incidence of adverse reactions was 3.0% (1/33) in the moxibustion group and 0% (0/33) in the sham moxibustion group, with no statistically significant difference (P>0.05). CONCLUSION On the basis of lifestyle intervention, moxibustion effectively improves obesity-related physical indicators, enhances quality of life, alleviates anxiety and depression, and improves the phlegm-dampness constitution in patients with central obesity. These benefits persist for at least 4 weeks after treatment.
Humans ; Moxibustion ; Male ; Female ; Middle Aged ; Adult ; Obesity, Abdominal/psychology* ; Acupuncture Points ; Treatment Outcome ; Aged ; Quality of Life ; Young Adult ; Body Mass Index