Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective:To analyze the APR triangle formed when the right hepatic vein (RHV) passed through the right anterior hepatic pedicle (RAHP) and the right posterior hepatic pedicle (RPHP) by 3D visualization technique.Methods:Clinical data of 100 subjects undergoing liver contrast-enhanced CT scan in the Second Affiliated Hospital of Harbin Medical University from September 2019 to September 2022 were retrospectively analyzed, including 57 males and 43 females, aged (53.2±13.0) years. The CT data were imported into a system for 3D image reconstruction of the liver. The intrahepatic vascular structure was observed, including the portal vein, APR triangle, the angle between the RAHP and RPHP, the distance between RHV and the vertex of angle when it crosses the angle plane of the RAHP and RPHP, the structure and branches of the right posterior branch of portal vein, and the number of branches into the APR triangle from the main trunk of the right anterior and right posterior portal vein.Results:The main type of portal vein was type A (the main portal vein was divided into left and right branches, and the right branch was further divided into right anterior branch and right posterior branch), in 86 cases (86.0%). The APR triangle was observed in 81 cases (81.0%), and the distance between the right hepatic vein and the vertex of the right anterior and right posterior hepatic pedicle was (1.70±0.36) cm, 1.00-2.00 cm was 82.7%(61/81). The angle between right anterior and right posterior hepatic pedicle was 45°-90° in 77 cases (77.0%, 77/100). In 100 subjects, the main branch of the right posterior portal vein accounted for 42.0% (42/100) of typeⅠ (bifurcation type) and 53.0% (arch type) of type Ⅱ (53/100). In 16 cases (19.8%, 16/81), the main right anterior portal vein branched into the APR triangle, with a total of 22 branches. In 9 cases (11.1%, 9/81), the main branch of the right posterior portal vein (branching type) branched into the triangle, with a total of 11 branches. There were 33 cases (40.7%, 33/81) of right posterior portal vein (arch type) main branch branching into the triangle, a total of 41 branches.Conclusion:The APR triangle, composed of the RAHP, RPHP and RHV, has an objective anatomical basis and is affected by the variants of portal vein and RHV. It is more common for the RHV to be within 1.00-2.00 cm of the vertex of the angle between the RAHP and RPHP, and the main trunk of the right anterior and right posterior branches of portal vein are less divided into the triangle, so it is relatively safe to dissect within this area.

Complications such as pancreatic leakage,biliary leakage and abdominal infection may occur after pancreaticoduodenectomy.Previous surgeons have recommended routine preventive drainage for early detection and treatment of complications.In recent years,with the rise of the idea of accelerated rehabilitation,this view has been questioned and disputed.In this paper,five aspects of drainage tube placement after pancreaticoduodenectomy,drainage mode,drainage placement area,when to remove the drainage tube,and re-catheter drainage after surgery are reviewed.

Complications such as pancreatic leakage,biliary leakage and abdominal infection may occur after pancreaticoduodenectomy.Previous surgeons have recommended routine preventive drainage for early detection and treatment of complications.In recent years,with the rise of the idea of accelerated rehabilitation,this view has been questioned and disputed.In this paper,five aspects of drainage tube placement after pancreaticoduodenectomy,drainage mode,drainage placement area,when to remove the drainage tube,and re-catheter drainage after surgery are reviewed.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective:To analyze the APR triangle formed when the right hepatic vein (RHV) passed through the right anterior hepatic pedicle (RAHP) and the right posterior hepatic pedicle (RPHP) by 3D visualization technique.Methods:Clinical data of 100 subjects undergoing liver contrast-enhanced CT scan in the Second Affiliated Hospital of Harbin Medical University from September 2019 to September 2022 were retrospectively analyzed, including 57 males and 43 females, aged (53.2±13.0) years. The CT data were imported into a system for 3D image reconstruction of the liver. The intrahepatic vascular structure was observed, including the portal vein, APR triangle, the angle between the RAHP and RPHP, the distance between RHV and the vertex of angle when it crosses the angle plane of the RAHP and RPHP, the structure and branches of the right posterior branch of portal vein, and the number of branches into the APR triangle from the main trunk of the right anterior and right posterior portal vein.Results:The main type of portal vein was type A (the main portal vein was divided into left and right branches, and the right branch was further divided into right anterior branch and right posterior branch), in 86 cases (86.0%). The APR triangle was observed in 81 cases (81.0%), and the distance between the right hepatic vein and the vertex of the right anterior and right posterior hepatic pedicle was (1.70±0.36) cm, 1.00-2.00 cm was 82.7%(61/81). The angle between right anterior and right posterior hepatic pedicle was 45°-90° in 77 cases (77.0%, 77/100). In 100 subjects, the main branch of the right posterior portal vein accounted for 42.0% (42/100) of typeⅠ (bifurcation type) and 53.0% (arch type) of type Ⅱ (53/100). In 16 cases (19.8%, 16/81), the main right anterior portal vein branched into the APR triangle, with a total of 22 branches. In 9 cases (11.1%, 9/81), the main branch of the right posterior portal vein (branching type) branched into the triangle, with a total of 11 branches. There were 33 cases (40.7%, 33/81) of right posterior portal vein (arch type) main branch branching into the triangle, a total of 41 branches.Conclusion:The APR triangle, composed of the RAHP, RPHP and RHV, has an objective anatomical basis and is affected by the variants of portal vein and RHV. It is more common for the RHV to be within 1.00-2.00 cm of the vertex of the angle between the RAHP and RPHP, and the main trunk of the right anterior and right posterior branches of portal vein are less divided into the triangle, so it is relatively safe to dissect within this area.

Objective:To investigate the feasibility, clinical efficacy and donor site impact of the deep inferior epigastric artery perforator flap (DIEPF) with transverse symmetrical design in reconstruction of soft tissue defects in limbs.Methods:From September 2020 to August 2023, 12 patients with soft tissue defects of limbs who agreed to flap donor site in the lower abdominal wall were treated in the Department of Hand Surgery and Microsurgery, Sichuan Modern Hospital. There were 10 females and 2 males with an average age of 58.42 years old. Defect sites: 3 in upper limbs and 9 in lower limbs. Sizes of the soft tissue defect were 8.0 cm×15.0 cm-13.0 cm×40.0 cm. CTA or CDU was used to detect the perforators of deep inferior epigastric artery and appropriate perforators were selected. The width and length of redundant skin and subcutaneous tissues in the lower abdomen were evaluated according to the "pinch and lift test". Taking into account the requirements of abdominoplasty, symmetrical bilateral DIEPFs were designed in the transverse direction on the lower abdominal wall. The sizes of the flaps were 7.5 cm×24.0 cm-13.0 cm ×42.0 cm. The harvested flaps were firstly thinned under the microscope, trimmed and shaped properly to match the profile of the wounds. Blood circulation was reconstructed with various forms of vascular anastomoses, such as internal pressurisation, connection in series and Flow-through, etc. Lower abdominal wall wound should be gradually reduced in tension according to the requirements of abdominal wall plastic surgery, and cosmetic suturing should be performed.Results:All 12 DIEPFs survived. The lower abdominal donor site healed primarily. All patients were included in postoperative follow-up for 6 to 42 (average 18.31) months. All flaps were normal in colour and soft in texture. The appearance of abdominal walls were improved, and the function was not affected, except 1 patient who underwent debulking procedure 3 months after the surgery.Conclusion:The transverse symmetrical design of a DIEPF is an ideal method for reconstruction of soft tissue defects in limbs after appropriate flap modification. It is a win-win solution for an aesthetic appearance of donor and recipient sites of the flap.

Objective:This report presents the initial outcomes of endoscopic intermuscular dissection (EID), a novel technique introduced by our team for the diagnostic resection of early rectal cancer, focusing on the postoperative status of the vertical margins.Methods:On January 26, 2024, a patient with early rectal cancer (cT1-2N0M0) underwent Endoscopic Intermuscular Dissection. The EID procedure consists of six steps: (1) mucosal incision; (2) submucosal dissection; (3) superficial muscular layer incision; (4) intermuscular dissection; (5) complete tumor removal; (6) wound management.Results:The patient was a 70-year-old male with rectal cancer (cT1-2N0M0). The tumor was located on the left anterior wall of the rectum, approximately 9 cm from the anal margin, and measured 20mm in size. The dissection rate was 2.68 mm2/minute, and the total duration of the surgery was 109 minutes. The patient was successfully discharged on the fifth day after surgery. Pathological examination of the post-endoscopic surgery specimen revealed pT1b, with negative vertical margins. Follow-up after more than one month showed good recovery with no complications such as bleeding, perforation, infection, or stricture occurring. Colonoscopy indicated the presence of a granulation tissue suggestive of inflammation.Conclusion:Endoscopic Intermuscular Dissection for the diagnostic resection of early rectal cancer is potentially safe and may achieve negative vertical margins.

Objective:To investigate the association between gestational blood pressure and neurodevelopment in 2-year-old children.Methods:Based on the"Wuhan Healthy Baby Birth Cohort", 3 754 mother-infant pairs were enrolled in this study. Based on multiple blood pressure measurements during pregnancy, the mean, cumulative, and variability of blood pressure throughout the entire pregnancy and each trimester were calculated. Blood pressure variability was evaluated using standard deviation (SD), coefficient of variability (CV), and variability independent of mean (VIM). Follow-up testing of neurodevelopment in infants and young children at the age of two was conducted to obtain the Mental Development Index (MDI) and the Psychomotor Development Index (PDI). The multivariate linear regression and generalized estimation equation were used to analyze the association between gestational blood pressure data and neurodevelopmental index.Results:The age of 3 754 pregnant women was (29.1±3.6) years, with a pre-pregnancy BMI of (20.9±2.7) kg/m2 and a gestational age of (39.3±1.2) weeks. The birth weight of 3 754 children was (3 330.9±397.7) grams, and the birth length was (50.3±1.6) centimeters. The results of the multivariate linear regression analysis showed that after adjusting for relevant confounding factors, the mean blood pressure, cumulative blood pressure, standard deviation of blood pressure, coefficient of variation of blood pressure, independent blood pressure variability of systolic blood pressure, diastolic blood pressure, and pulse pressure throughout pregnancy were negatively associated with the MDI and PDI scores of 2-year-old children. The analysis results of the generalized estimation equation showed that after adjusting for relevant confounding factors, the average systolic blood pressure in the first, second, and third trimesters was negatively associated with MDI/PDI. The negative association between cumulative blood pressure and MDI/PDI was only found in the first trimester. The negative association between blood pressure variation during pregnancy and MDI/PDI was mainly concentrated in the second and third trimesters.Conclusion:There is a negative association between gestational blood pressure and the neurodevelopmental index of 2-year-old children.

Yigongsan is derived from Xiaoer Yaozheng Zhijue written by QIAN Yi in the Northern Song dynasty， which is the No. 3 formula in the Catalogue of Ancient Famous Classical Formulas（The Second Batch of Pediatrics） released by the National Administration of Traditional Chinese Medicine（TCM） in September 2022， and it can be developed as a class 3.1 new TCM drug. By referring to ancient medical books and modern literature， this study conducted herbal textual research on Yigongsan from five aspects， including historical evolution， origin and processing， dosage conversion， usage and preparation methods， and functional application， then formed the key information table of this formula， in order to provide reference for the development of reference samples and preparations of Yigongsan. Based on the results of the study， it is recommended that Panax ginseng should be removed the basal part of stem（rhizoma）， Poria cocos should be removed the peel， Citrus reticulata should be cut into shreds and Glycyrrhiza uralensis should be used. According to 4.13 g/Qian（钱）， 1 g/slice for ginger， 3 g for each jujube and 300 mL/Zhan（盏）， the doses of Ginseng Radix， Poria， Atractylodis Macrocephalae Rhizoma， Glycyrrhizae Radix et Rhizoma， Citri Reticulatae Pericarpium， Zingiberis Rhizoma Recens， Jujubae Fructus were 1.652， 1.652， 1.652， 1.652， 1.652， 5， 6 g， and the total amount was 19.26 g. The decocting method was to crush the medicinal materials into fine powder with 50-80 mesh， add 300 mL of water and decoct to 210 mL for each dose， then remove the dregs and take it warmly. This formula was recorded in ancient books as the main treatment for the cold-deficiency of spleen and stomach， and Qi stagnation in children with vomiting and diarrhea and lack of appetite. It has been flexibly applied by later generations of physicians， and is often used to treat anorexia， inflammation of the digestive tract， diarrhea and other diseases in children.