Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

OBJECTIVE: To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation. METHODS: A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241). RESULTS: MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c.1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c.2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+PM2_Supporting+PM3+PP1) and likely pathogenic (PM2_Supporting+PM3+PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.
Humans ; Male ; Pedigree ; Cholestasis, Intrahepatic/diagnostic imaging* ; Adenosine Triphosphatases/genetics* ; Female ; Adult ; Exome Sequencing ; Mutation ; East Asian People

Objective:To investigate the dietary iodine intake levels of residents and the dietary iodine contribution rates in Hainan Province.Methods:Using cluster random sampling method, common foods sold in 21 counties (cities, districts) markets in Hainan Province in 2023 were collected to determine iodine content. Each county (city, district) was divided into five sampling areas by east, west, south, north, and center, with one township (street) selected from each area, and 20 permanent residents over 18 years old (non same household, half male and half female) and 20 pregnant women were selected from each township (street). The "Iodine-Specific Food Frequency Questionnaire (I-FFQ)" was used to investigate the daily dietary intake of adults and pregnant woman. The average daily salt intake of the survey subjects was measured by the 3-day weighing method, and the dietary iodine intake and the dietary iodine contribution rates were calculated.Results:A total of 632 food samples were collected, and the iodine content of seaweed was relatively high (4 424.76 μg/100 g); the iodine content of seasoning was relatively low (2.41 μg/100 g). A total of 4 227 individuals in Hainan Province were surveyed for dietary iodine intake. The median dietary iodine intake level of residents was 211.6 μg/d, with the medians dietary iodine intake level of adults and pregnant women being 204.5 and 218.4 μg/d ( n = 2 120, 2 107), respectively. There was a statistically significant differences between different populations ( Z = - 8.64, P < 0.001). The medians dietary iodine intake level in the western coastal areas, central mountainous regions, and eastern coastal areas were 210.0, 207.3 and 211.6 μg/d ( n = 1 205, 1 203, 1 819), respectively, with statistically significant differences between different regions ( H = 15.33, P < 0.001). The contribution rate of dietary iodine from iodized salt was the most (59.4%), followed by kelp (8.1%). Conclusions:Under the condition of consuming iodized salt, the dietary iodine intake of adults in Hainan Province meets the recommended dietary iodine intake ( > 120 μg/d), but the dietary iodine intake of pregnant women is insufficient ( < 230 μg/d). Iodized salt is the main source of dietary iodine for residents in Hainan Province.

Objective:To describe epidemiological characteristics and their influencing factors of diabetes and pre-diabetes among adult residents in Hainan Province and provide a theoretical basis to develop epidemic prevention and control strategies for diabetes.Methods:This study used a two-stage unequal proportion cluster sampling method, and 32 857 subjects (≥18 years old) were collected from 24 cities/counties/districts in Hainan Province. All the subjects were investigated with questionnaires, physical examination, and laboratory tests from January to June 2023. The χ2 and Mantel-Haenszel trend χ2 tests were used to analyze the data. Multivariate logistic regression was used to analyze the factors influencing diabetes and pre-diabetes. SPSS 23.0 software was used to analyze the data. Results:The crude prevalence of diabetes and pre-diabetes in adult residents of Hainan Province were 18.1% and 22.8%, while the weighted rates were 13.7% and 20.7%, respectively. The results of multivariate logistic regression analysis showed that: aging (30-39 years old: OR=2.65, 95% CI: 2.06-3.41; 40-49 years old: OR=5.64, 95% CI: 4.40-7.24; 50- 59 years old: OR=9.88, 95% CI: 7.71-12.67; 60-69 years old: OR=18.34, 95% CI: 14.28-23.55; 70-79 years old: OR=21.30, 95% CI: 16.41-27.65; 80 years old and above: OR=24.13, 95% CI: 17.94-32.46), nationality (Li minority group: OR=1.50, 95% CI: 1.38-1.63; other ethnic groups: OR=1.53, 95% CI: 1.20-1.94), urban ( OR=1.12, 95% CI: 1.04-1.21), central obesity ( OR=2.14, 95% CI: 2.01-2.29), higher frequency of alcohol consumption (5-7 day/week: OR=1.24, 95% CI: 1.11-1.38), physical inactivity ( OR=1.09, 95% CI: 1.02-1.17) were risk factors for diabetes, while aging (30-39 years old: OR=1.53, 95% CI: 1.31-1.79; 40-49 years old: OR=2.36, 95% CI: 2.01-2.76; 50-59 years old: OR=3.03, 95% CI: 2.58-3.55; 60-69 years old: OR=4.22, 95% CI: 3.58-4.97; 70-79 years old: OR=5.05, 95% CI: 4.23-6.04; 80 years old and above: OR=6.08, 95% CI: 4.86-7.61), nationality: (Li minority group: OR=1.18, 95% CI: 1.10-1.28; other ethnic groups: OR=1.40, 95% CI: 1.14-1.71), urban ( OR=1.12, 95% CI: 1.04-1.19), central obesity ( OR=1.72, 95% CI: 1.62-1.83), higher frequency of alcohol consumption (1-4 day/week: OR=1.12, 95% CI: 1.01-1.23; 5-7 day/week: OR=1.35, 95% CI: 1.22-1.49) were risk factors for pre-diabetes. Conclusions:The epidemic situation of diabetes and pre-diabetes among adult residents in Hainan Province was not optimistic. In order to control the development of abnormal blood glucose, measures and targeted health education should be carried out to strengthen the screening, treatment, and management of people with abnormal blood glucose among different populations.

Objective:To investigate the effect and clinical efficacy of assisted negative pressure wound therapy (NPWT) dressing on reduction of the size of free anterolateral thigh perforator flap (ALTPF) in reconstruction of soft tissue defects of limbs, and to observe the clinical efficacy of NPWT in free ALTPF surgery.Methods:From June 2022 to January 2024, 19 patient (13 males and 6 females) with soft tissue defects in limbs received surgical treatment using NPWT assisted transfer of free ALTPF in the Department of Repair and Reconstruction Surgery, Foshan Hospital of Traditional Chinese Medicine, the Eighth School of Clinical Medicine, Guangzhou University of Traditional Chinese Medicine. Of the 19 defects, 8 were in calf, 7 in foot and around ankle, 3 in forearm and 1 around elbow. The soft tissue defects ranged from 11.2 cm×9.5 cm to 24.5 cm×10.5 cm, and with comminuted fracture in different degrees as well as the exposure of bone, tendon or nerve. During surgery, the ALTPFs were harvested with a reduced width from the donor sites at 10.5 cm×7.0 cm to 24.0 cm×7.5 cm in size. After an ALTPF had been transferred to the recipient site, the remaining defect that was not covered by the ALTPF was then covered by a NPWT dressing. After the flap was stabilised, NPWT dressing was removed and the defect was closed by directly suture. Surgical data were taken and recorded during surgery. The healing of wound and survival of flaps were observed after surgery. Scheduled postoperative follow-ups were conducted through outpatient clinic or via WeChat reviews to monitor the overall appearance of recipient and donor sites, colour of flap, complications and functional recovery, and other relevant information. Functional recovery of upper limb was evaluated according to the Evaluation Trial Standards of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, and the functional recovery of lower extremity was evaluated according to the Lower Extremity Functional Scale (LEFS).Results:The flaps were all fully viable, with soft texture and good appearance, the width of the flaps was designed 2.0-3.5 cm smaller than that of the defect, and the size of the flaps was 32.9-77.3 cm 2 smaller than that of the defects. All donor sites were closed by suture in the primary surgery, and left with linear scars. Postoperative follow-up lasted for 4 to 18 months. Of the 4 patients with upper limb injuries, 3 achieved the limb function in excellent and 1 in good; While of the 15 patients with lower limb injuries, 12 achieved the limb function in excellent, 2 in good and 1 in fair. Conclusion:Combination of NPWT dressing and free ALTPF is in accordance with the theory of flap economics and the concept of minimal damage to donor site. It avoids the waste of soft tissues, and provides a new idea for traumatic surgery.

As the harvest and clinical application of anterolateral thigh flap (ALTF) are now well established, attentions are gradually shifted to the quality of closure of donor site. Considering aesthetics and functionality of donor site while having a recipient site reconstructed has become a challenge for surgeons in reconstructive surgery. In recent years, with in-depth researches on flap anatomy, a variety of innovative closure techniques for donor site have emerged, aiming to improve healing quality and minimise complications. This article summarises and categorises the management strategies for ALTF donor site through extensive literature review, and provides a reference for surgeons on individualised treatment of patients.

Objective:To describe epidemiological characteristics and their influencing factors of diabetes and pre-diabetes among adult residents in Hainan Province and provide a theoretical basis to develop epidemic prevention and control strategies for diabetes.Methods:This study used a two-stage unequal proportion cluster sampling method, and 32 857 subjects (≥18 years old) were collected from 24 cities/counties/districts in Hainan Province. All the subjects were investigated with questionnaires, physical examination, and laboratory tests from January to June 2023. The χ2 and Mantel-Haenszel trend χ2 tests were used to analyze the data. Multivariate logistic regression was used to analyze the factors influencing diabetes and pre-diabetes. SPSS 23.0 software was used to analyze the data. Results:The crude prevalence of diabetes and pre-diabetes in adult residents of Hainan Province were 18.1% and 22.8%, while the weighted rates were 13.7% and 20.7%, respectively. The results of multivariate logistic regression analysis showed that: aging (30-39 years old: OR=2.65, 95% CI: 2.06-3.41; 40-49 years old: OR=5.64, 95% CI: 4.40-7.24; 50- 59 years old: OR=9.88, 95% CI: 7.71-12.67; 60-69 years old: OR=18.34, 95% CI: 14.28-23.55; 70-79 years old: OR=21.30, 95% CI: 16.41-27.65; 80 years old and above: OR=24.13, 95% CI: 17.94-32.46), nationality (Li minority group: OR=1.50, 95% CI: 1.38-1.63; other ethnic groups: OR=1.53, 95% CI: 1.20-1.94), urban ( OR=1.12, 95% CI: 1.04-1.21), central obesity ( OR=2.14, 95% CI: 2.01-2.29), higher frequency of alcohol consumption (5-7 day/week: OR=1.24, 95% CI: 1.11-1.38), physical inactivity ( OR=1.09, 95% CI: 1.02-1.17) were risk factors for diabetes, while aging (30-39 years old: OR=1.53, 95% CI: 1.31-1.79; 40-49 years old: OR=2.36, 95% CI: 2.01-2.76; 50-59 years old: OR=3.03, 95% CI: 2.58-3.55; 60-69 years old: OR=4.22, 95% CI: 3.58-4.97; 70-79 years old: OR=5.05, 95% CI: 4.23-6.04; 80 years old and above: OR=6.08, 95% CI: 4.86-7.61), nationality: (Li minority group: OR=1.18, 95% CI: 1.10-1.28; other ethnic groups: OR=1.40, 95% CI: 1.14-1.71), urban ( OR=1.12, 95% CI: 1.04-1.19), central obesity ( OR=1.72, 95% CI: 1.62-1.83), higher frequency of alcohol consumption (1-4 day/week: OR=1.12, 95% CI: 1.01-1.23; 5-7 day/week: OR=1.35, 95% CI: 1.22-1.49) were risk factors for pre-diabetes. Conclusions:The epidemic situation of diabetes and pre-diabetes among adult residents in Hainan Province was not optimistic. In order to control the development of abnormal blood glucose, measures and targeted health education should be carried out to strengthen the screening, treatment, and management of people with abnormal blood glucose among different populations.

Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

Objective:To investigate the dietary iodine intake levels of residents and the dietary iodine contribution rates in Hainan Province.Methods:Using cluster random sampling method, common foods sold in 21 counties (cities, districts) markets in Hainan Province in 2023 were collected to determine iodine content. Each county (city, district) was divided into five sampling areas by east, west, south, north, and center, with one township (street) selected from each area, and 20 permanent residents over 18 years old (non same household, half male and half female) and 20 pregnant women were selected from each township (street). The "Iodine-Specific Food Frequency Questionnaire (I-FFQ)" was used to investigate the daily dietary intake of adults and pregnant woman. The average daily salt intake of the survey subjects was measured by the 3-day weighing method, and the dietary iodine intake and the dietary iodine contribution rates were calculated.Results:A total of 632 food samples were collected, and the iodine content of seaweed was relatively high (4 424.76 μg/100 g); the iodine content of seasoning was relatively low (2.41 μg/100 g). A total of 4 227 individuals in Hainan Province were surveyed for dietary iodine intake. The median dietary iodine intake level of residents was 211.6 μg/d, with the medians dietary iodine intake level of adults and pregnant women being 204.5 and 218.4 μg/d ( n = 2 120, 2 107), respectively. There was a statistically significant differences between different populations ( Z = - 8.64, P < 0.001). The medians dietary iodine intake level in the western coastal areas, central mountainous regions, and eastern coastal areas were 210.0, 207.3 and 211.6 μg/d ( n = 1 205, 1 203, 1 819), respectively, with statistically significant differences between different regions ( H = 15.33, P < 0.001). The contribution rate of dietary iodine from iodized salt was the most (59.4%), followed by kelp (8.1%). Conclusions:Under the condition of consuming iodized salt, the dietary iodine intake of adults in Hainan Province meets the recommended dietary iodine intake ( > 120 μg/d), but the dietary iodine intake of pregnant women is insufficient ( < 230 μg/d). Iodized salt is the main source of dietary iodine for residents in Hainan Province.

Objective:To investigate the effect and clinical efficacy of assisted negative pressure wound therapy (NPWT) dressing on reduction of the size of free anterolateral thigh perforator flap (ALTPF) in reconstruction of soft tissue defects of limbs, and to observe the clinical efficacy of NPWT in free ALTPF surgery.Methods:From June 2022 to January 2024, 19 patient (13 males and 6 females) with soft tissue defects in limbs received surgical treatment using NPWT assisted transfer of free ALTPF in the Department of Repair and Reconstruction Surgery, Foshan Hospital of Traditional Chinese Medicine, the Eighth School of Clinical Medicine, Guangzhou University of Traditional Chinese Medicine. Of the 19 defects, 8 were in calf, 7 in foot and around ankle, 3 in forearm and 1 around elbow. The soft tissue defects ranged from 11.2 cm×9.5 cm to 24.5 cm×10.5 cm, and with comminuted fracture in different degrees as well as the exposure of bone, tendon or nerve. During surgery, the ALTPFs were harvested with a reduced width from the donor sites at 10.5 cm×7.0 cm to 24.0 cm×7.5 cm in size. After an ALTPF had been transferred to the recipient site, the remaining defect that was not covered by the ALTPF was then covered by a NPWT dressing. After the flap was stabilised, NPWT dressing was removed and the defect was closed by directly suture. Surgical data were taken and recorded during surgery. The healing of wound and survival of flaps were observed after surgery. Scheduled postoperative follow-ups were conducted through outpatient clinic or via WeChat reviews to monitor the overall appearance of recipient and donor sites, colour of flap, complications and functional recovery, and other relevant information. Functional recovery of upper limb was evaluated according to the Evaluation Trial Standards of Upper Limb Partial Functional of Hand Surgery of Chinese Medical Association, and the functional recovery of lower extremity was evaluated according to the Lower Extremity Functional Scale (LEFS).Results:The flaps were all fully viable, with soft texture and good appearance, the width of the flaps was designed 2.0-3.5 cm smaller than that of the defect, and the size of the flaps was 32.9-77.3 cm 2 smaller than that of the defects. All donor sites were closed by suture in the primary surgery, and left with linear scars. Postoperative follow-up lasted for 4 to 18 months. Of the 4 patients with upper limb injuries, 3 achieved the limb function in excellent and 1 in good; While of the 15 patients with lower limb injuries, 12 achieved the limb function in excellent, 2 in good and 1 in fair. Conclusion:Combination of NPWT dressing and free ALTPF is in accordance with the theory of flap economics and the concept of minimal damage to donor site. It avoids the waste of soft tissues, and provides a new idea for traumatic surgery.