A Case Report of Marfan Syndrome with Pituitary Tumor Which Could be Misdiagnosed as Gigantism / 罕见病研究

Marfan syndrome (MFS) is an autosomal dominant disorder that is prone to fibrodysplasia, lens dislocation and rapid height growth, which needs to be distinguished from gigantism. This article reports a 14-year-old patient with MFS who had a typical binocular lens subluxation in both eyes, with visual impairment and rapid height growth. MRI with contrast to the pituitary suggested a pituitary microadenoma, but growth hormone and insulin-like growth factor 1 were in the normal range, thus excluding gigantism or acromegaly. Non-functional pituitary adenoma was considered. MFS patients need long-term follow-up and multidisciplinary collaboration, and attention should be paid to cardiovascular system monitoring and genetic testing, which can be helpful for the diagnosis and treatment of patients and risk prevention and control.

Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with hereditary spastic paraplegia type 30 (HSP30).@*METHODS@#A proband presented at the Second Hospital of Shanxi Medical University in August 2021 was selected as the study subject. The proband was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband was found to have harbored a heterozygous c.110T>C variant in exon 3 of the KIF1A gene, which can cause substitution of isoleucine by threonine at position 37 (p.I37T) and alter the function of its protein product. The same variant was not found in his parents, elder brother and elder sister, suggesting that it has a de novo origin. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PM2_Supporting+PP3+PS2).@*CONCLUSION@#The c.110T>C variant of the KIF1A gene probably underlay the HSP30 in the proband. Above finding has enable genetic counseling for this family.

Laparoscopic limited anatomical hepatectomy for hepatocellular carcinoma within the right anterior section: a propensity score matched study / 中华肝胆外科杂志

Objective:To study the efficacy of laparoscopic limited anatomical hepatectomy (LLAH) for hepatocellular carcinoma (HCC) within the right anterior section.Methods:The clinical data of 144 patients with HCC confined in the right anterior section undergoing hepatectomy at the First Affiliated Hospital of Army Medical University from January 2015 to December 2022 were retrospectively analyzed, including 122 males and 22 females, aged (54.5±9.7) years. Patients were divided into LLAH ( n=27), laparoscopic anatomical hepatectomy (LAH, n=69), and laparoscopic non-anatomical hepatectomy (LNAH, n=48). Propensity score matching was used to compare the operative time, postoperative hospital stay, postoperative complications, serum total bilirubin and albumin, and the prognostic indicators such as tumor-free survival (DFS) rate and cumulative survival rate between the groups. Results:After propensity score matching, there were 26 cases each in LLAH and LNAH group. There was no significant difference in operative time, intraoperative blood loss and postoperative hospital stay between LLAH group and LNAH group (all P<0.05). The total bilirubin and albumin in LLAH on the third day after operation were [ M( Q1, Q3)] 24.1(20.9, 29.1) μmol/L and (35.8±2.9) g/L, better than those in LNAH group 39.3(33.2, 57.0) μmol/L and (33.9±2.5) g/L, respectively. The 1- and 3-year DFS rates in LLAH group were 92.3% and 57.7%, higher than those in LNAH group (80.8% and 19.2%) (all P<0.05). After propensity score matching, there were 25 patients each in LLAH and LAH group. The operative time, postoperative hospital stay and postoperative complications of LLAH group were lower than those of LAH group, and the liver function parameters of LLAH group was also better than those of LAH group (all P<0.05). There was no significant difference in DSF rate between the two groups LLAH group and LAH group ( χ2=0.10, P=0.800). Conclusions:The perioperative outcome of LLAH for HCC within the right anterior section are similar to that of LNAH and better than that of LAH. The DFS of LLAH were better than that of LNAH and similar to that of LAH.

LRRK2G2019S mutation induced microglia activation after iron removal by inhibiting autophagy associated proteins / 中华神经医学杂志

Objective:To investigate the effect of LRRK2G2019S mutation on activation of microglia after iron deprivation and its mechanism.Methods:(1) Microglia were differentiated from human induced pluripotent stem cells (IPSC) with the help of hematopoietic progenitor cells (HPC) and identified by immunofluorescent staining, and α-synuclein (α-syn) A53T mutant protein was obtained by protein purification technology. (2) Microglia were divided into control group, α-syn group, α-syn+ deferoxamine (DFO) group; phosphate buffer solution (PBS), 1 μmol/L purified α-syn A53T mutant protein, 1 μmol/L purified α-syn A53T mutant protein+30 mmol/L DFO were given respectively for 24 h. Fe 2+ concentration was detected by colorimetry, Rab35 protein expression was detected by Western blotting, intracellular reactive oxygen species (ROS) level was detected by flow cytometry, and interleukin-6 ( IL-6), tumor necrosis factor-α ( TNF-α) and transforming growth factor-β ( TGF-β) mRNA expressions were detected by real time-PCR (RT-PCR); microglia culture supernatant (MCS) in the 3 groups were transfered to SH-SY5Y cells, and SH-SY5Y cell apoptosis was detected by flow cytometry. (3) Bidirectional DNA sequencing was used to detect leucine rich repeat kinase 2 ( LRRK2) gene mutations in microglia treated with 1 μmol/L purified α-syn A53T mutant protein. Microglia were divided into control group, α-syn group and α-syn+GSK3357679A group, and treated with corresponding drugs for 24 h, respectively (LRRK2 inhibitor GSK3357679A concentration: 10 nmol/L), and LRRK2 protein expression was detected by Western blotting; microglia were divided into control group, α-syn group, α-syn+GSK3357679A, and α-syn+GSK3357679A+DFO group, and treated with corresponding drugs for 24 h, Rab35 protein expression was detected by Western blotting, intracellular ROS level was detected by flow cytometry, and IL-6, TNF-α and TGF-β mRNA expressions were detected by RT-PCR. (4) Microglia were divided into control group, α-syn group, α-syn+rapamycin (RAPA) group, and treated with corresponding drugs for 24 h (concentration of autophagy inducer RAPA: 50 nmol/L); protein expressions of Rab35, P62 and microtubule-associated protein light chain 3 II (LC3II) were detected by Western blotting; intracellular ROS level was detected by flow cytometry, and IL-6, TNF-α and TGF-β mRNA expressions were detected by RT-PCR. (5) Microglia were divided into control group, α-syn group, and α-syn+Rab35 group, and treated with corresponding drugs for 24 h (concentration of Rab35 overexpressed plasmids: 1 μg/mL); Rab35, P62, and LC3II protein expressions were detected by Western blotting; ROS level was detected by flow cytometry, and IL-6, TNF-α and TGF-β mRNA expressions were detected by RT-PCR. Results:(1) Immunofluorescent staining showed negative neuronal nuclei (NeuN) expression and positive ionized calcium-binding adapter molecule 1 (Iba1) expression in microglia, and high LRRK2 expression; PcDNA3.1-SNCA-A53T expression plasmid was constructed and α-syn A53T mutant protein was purified. (2) The Fe 2+ concentration in α-syn group was significantly higher than that in control group, and the Fe 2+ concentration in α-syn+DFO group was significantly lower than that in α-syn group ( P<0.05); the Rab35 protein and TGF-β mRNA expressions in control group, α-syn group and α-syn+DFO group were decreased successively, while the IL-6 and TNF-α mRNA expressions were increased successively, with significant differences ( P<0.05); ROS level and SH-SY5Y cell apoptosis rate in control group, α-syn group, α-syn+DFO group were increased successively. (3) Bidirectional DNA sequencing showed that the LRRK2G2019S mutation in microglia was the most obvious after α-syn A53T mutant protein stimulation; compared with the control group, the α-syn group had significantly increased LRRK2 protein expression, while the α-syn+GSK3357679A group had significantly decreased LRRK2 protein expression compared with α-syn group ( P<0.05); compared with the control group, the α-syn group had significantly decreased Rab35 protein and TGF-β mRNA expressions, and statistically increased IL-6 and TNF-α mRNA expressions ( P<0.05); compared with α-syn group, the α-syn+GSK3357679A group had significantly increased Rab35 protein and TGF-β mRNA expressions, and statistically decreased IL-6 and TNF-α mRNA expressions ( P<0.05); compared with α-syn+GSK3357679A group, α-syn+GSK3357679A+DFO group had significantly increased IL-6 and TNF-α mRNA expressions, and significantly decreased Rab35 protein and TGF-β mRNA expressions ( P<0.05). The α-syn group had higher ROS level than the control group, the α-syn+GSK3357679A group had lower ROS level than the α-syn group, and the α-syn+GSK3357679A+DFO group had higher ROS level than the α-syn+GSK3357679A group. (4) Compared with the control group, the α-syn group had significantly decreased Rab35 and LC3II protein, and TGF-β mRNA expressions, and significantly increased P62 protein, IL-6 and TNF-α mRNA expressions ( P<0.05); compared with α-syn group, the α-syn+RAPA group had significantly increased Rab35 and LC3II protein, and TGF-β mRNA expressions, and significantly decreased P62 protein, and IL-6 and TNF-α mRNA expressions ( P<0.05); the α-syn group had higher ROS level than the control group and α-syn+RAPA group. (5) Compared with the control group, the α-syn group had significantly decreased Rab35 and LC3II protein, and TGF-β mRNA expressions, and statistically increased P62 protein, and IL-6 and TNF-α mRNA expressions ( P<0.05); compared with the α-syn group, the α-syn+Rab35 group had significantly increased Rab35 and LC3II protein, and TGF-β mRNA expressions, and significantly decreased P62 protein, and IL-6 and TNF-α mRNA expressions ( P<0.05). The α-syn group had higher ROS level than the control group and α-syn+Rab35 group. Conclusion:LRRK2G2019S can induce neuroinflammation by inhibiting Rab35-related autophagy under iron deprivation, and Rab35 is expected to be a key factor in intervening neuroinflammation.

Recognition of the caudate lobe and reflections on related issues / 中华消化外科杂志

The hepatic caudate lobe is located in the deep back area of the liver. Due to the unique anatomical position of hepatic caudate lobe, surgical treatment for tumor of hepatic caudate lobe is particularly difficult. Non-surgical treatment, such as ablation, transarterial embolization, etc, is also challenging for tumor of hepatic caudate lobe, and the therapeutic effect is inferior to that of surgery. Therefore, surgical resection is the only treatment for tumor of hepatic caudate lobe. The authors discuss the research history of hepatic caudate lobe, the problems of laparoscopic technique in hepatic caudate lobe resection, etc, in order to provide a theoretical basis for improving the concept of accuracy of laparoscopic caudate lobectomy.

Safety of minimally invasive liver resection for resectable hepatocellular carcinoma complica-ted with portal hypertension: a multicenter study / 中华消化外科杂志

Objective:To investigate the safety of minimally invasive liver resection for resectable hepatocellular carcinoma (HCC) complicated with portal hypertension.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopathological data of 807 patients with resectable HCC who underwent minimally invasive liver resection in 8 medical centers, including Sir Run Run Shaw Hospital, Affiliated with the Zhejiang University School of Medicine et al, from June 2011 to November 2022 were collected. There were 670 males and 137 females, aged 58(50,66)years. Of the 807 patients, 173 cases with portal hypertension were divided into the portal hypertension group, and 634 cases without portal hypertension were divided into the non-portal hypertension group. Observation indicators: (1) propensity score matching and comparison of general data of patients between the two groups after matching; (2) intraoperative and post-operative situations; (3) subgroup analysis. Propensity score matching was done by the 1:1 nearest neighbor matching method, with the caliper setting as 0.001. Measurement data with skewed distribution were represented as M( Q1, Q3), and comparison between groups was conducted using the rank sum test. Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. Comparison of ordinal data was constructed using the non-parameter rank sun test. Results:(1) Propensity score matching and comparison of general data of patients between the two groups after matching. Of the 807 patients, 268 cases were successfully matched, including 134 cases in the portal hypertension group and 134 cases in the non-portal hypertension group. The elimination of the tumor diameter and robot-assisted surgery confounding bias ensured comparability between the two groups after propensity score matching. (2) Intraoperative and postoperative situations. The occlusion time of porta hepatis, cases with intraoperative blood transfusion, cases with postoperative complication, cases with complication >Ⅱ grade of Clavien-Dindo classification, cases of Clavien-Dindo classification as Ⅰ grade, Ⅱ grade, Ⅲ grade, Ⅳ grade, cases with liver related complication were 27.0(15.0,43.0)minutes, 33, 55, 15, 13, 29, 14, 1, 37 in the portal hypertension group, versus 35.0(22.0,60.0)minutes, 17, 25, 5, 14, 9, 4, 1, 13 in the non-portal hypertension group, showing significant differences in the above indicators between the two groups ( Z=-2.15, χ2=6.30, 16.39, 4.38, 20.72, 14.16, P<0.05). (3) Subgroup analysis. Results of subgroups analysis showed that in cases with major live resection, the operation time, volume of intraoperative blood loss, duration of postoperative hospital stay were 243.5(174.6,296.3)minutes, 200.0(150.0,600.0)mL, 7.5(6.0,13.0)days in the portal hypertension group, versus 270.0(180.0,314.5)minutes, 200.0 (75.0,450.0)mL, 7.0(5.5,10.0)days in the non-portal hypertension group, showing no significant difference in the above indicators between the two groups ( Z=-0.54, -1.73, -0.92, P>0.05). In cases with non-major live resection, the operation time, volume of intraoperative blood loss, duration of postoperative hospital stay were 170.0(120.0,227.5)minutes, 100.0(50.0,200.0)mL, 8.0(5.0,10.0)days in the portal hypertension group, versus 170.0(120.0,227.5)minutes, 100.0(50.0,200.0)mL, 7.0(5.5,9.0)days in the non-portal hypertension group, showing no significant difference in the above indicators between the two groups ( Z=-1.39, -0.10, 1.05, P>0.05). In cases with anatomical liver resection, the operation time, volume of intraoperative blood loss, duration of postoperative hospital stay were 210.0(150.0,285.0)minutes, 150.0(50.0,200.0)mL, 8.0(6.0,9.3)days in the portal hypertension group, versus 225.5(146.3,306.8)minutes, 100.0(50.0,250.0)mL, 7.0(6.0,9.0)days in the non-portal hypertension group, showing no significant difference in the above indica-tors between the two groups ( Z=-0.75, -0.26, -0.91, P>0.05). In cases with non-anatomical liver resection, the operation time, volume of intraoperative blood loss, duration of postoperative hospital stay were 173.5(120.0,231.5)minutes, 175.0(50.0,300.0)mL, 7.0(5.0,11.0)days in the portal hyper-tension group, versus 186.0(123.0,262.5)minutes, 100.0(50.0,200.0)mL, 7.0(5.0,9.5)days in the non-portal hypertension group, showing no significant difference in the above indicators between the two groups ( Z=-0.97, -1.12, -0.98, P>0.05). Conclusion:Minimally invasive liver resection or even major liver resection is safe and feasible for screened HCC patients complicated with portal hyper-tension, but attention should be paid to the prevention and treatment of postoperative complications.

Advancing drug delivery to articular cartilage: From single to multiple strategies

Articular cartilage (AC) injuries often lead to cartilage degeneration and may ultimately result in osteoarthritis (OA) due to the limited self-repair ability. To date, numerous intra-articular delivery systems carrying various therapeutic agents have been developed to improve therapeutic localization and retention, optimize controlled drug release profiles and target different pathological processes. Due to the complex and multifactorial characteristics of cartilage injury pathology and heterogeneity of the cartilage structure deposited within a dense matrix, delivery systems loaded with a single therapeutic agent are hindered from reaching multiple targets in a spatiotemporal matched manner and thus fail to mimic the natural processes of biosynthesis, compromising the goal of full cartilage regeneration. Emerging evidence highlights the importance of sequential delivery strategies targeting multiple pathological processes. In this review, we first summarize the current status and progress achieved in single-drug delivery strategies for the treatment of AC diseases. Subsequently, we focus mainly on advances in multiple drug delivery applications, including sequential release formulations targeting various pathological processes, synergistic targeting of the same pathological process, the spatial distribution in multiple tissues, and heterogeneous regeneration. We hope that this review will inspire the rational design of intra-articular drug delivery systems (DDSs) in the future.

Chronic lymphocytic leukemia with t(14;18)(q32;q21): report of 3 cases and review of literature / 白血病·淋巴瘤

Objective:To improve the understanding of chronic lymphoblastic leukemia (CLL) with t(14;18)(q32;q21).Methods:The clinical data of 3 cases diagnosed as CLL with t(14;18)(q32;q21) in the Tianjin KingMed Medical Laboratory from January 2020 to January 2021 were retrospectively analyzed. The clinicopathological data, morphological examination, immunophenotype, cytogenetics and somatic mutation of immunoglobulin heavy chain variable region genes of patients were comprehensively analyzed, and the literature was reviewed.Results:All the 3 patients showed lymphatic proliferative diseases, and their morphological characteristics and immunophenotype were typical characteristics of CLL.Conclusions:The diagnosis of CLL is mainly based on the typical morphology and immunophenotype of tumor cells. The presence of t(14;18) should not be used to exclude the diagnosis of CLL.

Theory and technical practice of anatomic liver resection based on portal territory for the treatment of hepatocellular carcinoma / 中华消化外科杂志

Anatomic resection aims to improve the surgical efficacy of hepatocellular carcinoma by systematic resection of portal territory. However, due to its deviation of traditional theory and practice, the oncology effect is questionable. Anatomic resection based on portal territory(PT-AR) is planned by the analysis of real portal vein territory, and performed complete resection of tumor-bearing portal territory by fluorescent guidance, while exposing typical inter-territory hepatic vein, so as to ensure the complete function of future liver remnant. PT-AR is based on the core theory of classical anatomic resection, which will correct the deviation of traditional theory and practice from the technical level, so as to lead a better surgical oncology outcomes for hepatocellular carcinoma.

Research progress of circular RNA in head and neck squamous cell carcinoma / 中国医师杂志

CircRNA(circular RNA) is a new class of covalently closed circular non-coding RNAs, with the function of the microRNA sponge, regulation of gene expression, and other functions. Studies have confirmed that circRNAs are involved in the occurrence and progression of a variety of tumors, and can be used as biomarkers and therapeutic targets for tumor diagnosis and prognosis evaluation. In this paper, the expression and mechanism of circRNA in head and neck squamous cell carcinoma are reviewed.

Clinical characteristics and surgical effects of acute calculous cholecystitis in high altitude area of Tibet / 中华消化外科杂志

Objective:To investigate the clinical characteristics and surgical effects of acute calculous cholecystitis (ACC) in high altitude area of Tibet.Methods:The retrospective cohort study was conducted. The clinicopathological data of 182 ACC patients who underwent surgery in the 954th Hospital of Army from January 2016 to December 2020 were collected. There were 56 males and 126 females, aged (41±13)years. Of the 182 patients, 61 cases undergoing open cholecystec-tomy were divided into the open group, and 121 cases undergoing laparoscopic cholecystectomy (LC) were divided into the laparoscopic group. Observation indicators: (1) clinical characteristics of ACC in high altitude area; (2) surgical situations; (3) postoperative complications; (4) follow-up. Follow-up was conducted using outpatient examination and telephone interview to detect postopera-tive complications of patients up to October 2021. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measure-ment data with skewed distribution were represented as M( Q1, Q3) or M(range), and comparison between groups was conducted using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups was conducted using the chi-square test. Results:(1) Clinical characteristics of ACC in high altitude area. Of the 182 patients, cases with symptom duration as <3 days, 3 days to 1 month, >1 month and ≤12 months, >12 months were 37, 43, 57, 45, respectively. Seventy-seven of the 182 patients were combined with other diseases before surgery. (2) Surgical situations. Two cases in the open group were found common bile duct stones during the operation, and underwent choledochotomy and T-tube drainage. Nine cases in the laparoscopic group were converted to laparotomy, including 3 cases with severe abdominal adhesion and ineffective hemostasis, 6 cases with anatomical variation of Calot triangle. The conversion to laparotomy rate was 7.438%(9/121). The other patients in the open group and the laparoscopic group completed surgery successfully. The operation time, volume of intraoperative blood loss, time to postoperative first out-of-bed activities, time to postoperative first flatus, cases with indwelling drainage tube, cases with acute simple cholecystitis, acute suppurative cholecystitis, acute gangrene cholecystitis, gallbladder perforation of disease pathological type, postoperative white cell count, postoperative neutrophil percentage, duration of postoperative hospital stay were (109±42)minutes, 50(45,100)mL, (16.1±1.5)hours, (31.4±11.9)hours, 33, 25, 27, 6, 3, (6.8±1.9)×10 9/L, 72.7%±7.4%, (7.3±1.7)days for the open group. The above indicators were (98±43)minutes, 20(20,50)mL, (12.9±1.4)hours, (26.7±12.1)hours, 51, 56, 51, 9, 5, (7.1±2.4)×10 9/L, 70.5%±8.7%, (6.4±1.7)days for the laparoscopic group. There were significant differences in the volume of intraopera-tive blood loss, time to postoperative first out-of-bed activities, time to postoperative first flatus, duration of postoperative hospital stay between the two groups ( Z=?6.75, t=14.41, 2.46, 3.45, P<0.05). There was no significant difference in the operation time, cases with indwelling drainage tube, diseases pathological type, postoperative white cell count, postoperative neutrophil percentage between the two groups ( t=1.66, χ2=2.33, 0.84, t=?0.71, 1.66, P>0.05). (3) Postoperative complica-tions. Postoperative complications occurred in 7 of the 61 patients in the open group and 5 of the 121 patients in the laparoscopic group. There was no significant difference in the postoperative complications between the two groups ( χ2=2.46, P>0.05). (4) Follow-up. Of the 182 patients, 115 cases including 35 cases in the open group and 80 cases in the laparoscopic group were followed up for 12(range, 3?24)months. During the follow-up, 1 case of the 35 patients in the open group had abdominal pain and jaundice, which was diagnosed as choledocholithiasis. The patient was improved after stone removal with endoscopic retrograde cholangiopancreatography. Two cases of the 35 patients in the open group had upper abdominal pain with fever and were improved after anti-infection treatment. Of the 80 patients in the laparoscopic group, 1 case had upper abdominal pain and 1 case had dyspepsia and anorexia, respectively. The two cases were improved after symptomatic treatment. Conclusions:Patients with ACC in the high altitude area of Tibet have high ratio of preoperative complications, long diseases history and high incidence rates of pyogenic perforation of the gallbladder. Patients with ACC in the high altitude area undergoing LC is safe and effective. Compared with open cholecystectomy, LC have less volume of intraoperative blood loss, faster postoperative recovery and shorter duration of postoperative hospital stay.

Classification and evolution of the surgical approach of laparoscopic hepatectomy / 中华消化外科杂志

In the past 30 years, laparoscopic hepatectomy has developed rapidly, which multi-dimensionally promoted the innovation of hepatectomy technology and strategy. This is mainly attributed to the key factors such as the improvement of domestic and foreign scholars′ under-standing of liver anatomy, the conversion and application of laparotomy technology, the expansion of laparoscopic vision and the feedback in surgery related fields. The authors summarize the enlighten-ment, development, promotion and sublimation of laparoscopic hepatectomy, and discuss the classi-fication and evolution of the surgical approach of laparoscopic hepatectomy.

Neonatal tricho-hepato-enteric syndrome caused by SKIV2L gene mutation: a case report / 中华围产医学杂志

We here report the diagnosis and treatment of tricho-hepato-enteric syndrome in a female neonate. The 11-day-old patient, born at a gestational age of 38 weeks and with a birth weight of 1 700 g, was admitted to the Affiliated Hospital of Jining Medical University in January 2019 due to "skin stained yellow for 6 d". She presented with yellow, thin, and sparse hair that was easy to fall off, intractable diarrhea, repeated fever, and slow weight gain, further complicated by congenital heart disease. After 25-days of treatment, the child's infection was under control, but still had diarrhea. The baby girl was discharge later on request of her parents, but readmitted at the age of 3 months due to pulmonary infection. Delayed development, malnutrition, prominent forehead, wide eye distance, low nasal bridge, hepatomegaly, and intractable diarrhea were also observed. Whole exome sequencing identified a homozygous mutation of c.2344delC(p.His782fs) in SKIV2L gene in the baby, and both her parents were heterozygous carriers of the mutation at this site. She was diagnosed with SKIV2L gene mutation-induced tricho-hepato-enteric syndrome. The patient suffered from sustained diarrhea and recurrent infection and died of infection at 4 months of age after her parents' decision to withdraw treatment.

Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a case of Lamb-Shaffer syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.

Analysis of gene variant in a Chinese pedigree with preaxial polydactyly / 中华医学遗传学杂志

OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.

Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).@*METHODS@#Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls.@*RESULTS@#The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases.@*CONCLUSION@#The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.

A clinical study on laparoscopic hepatic vein-guided anatomical hepatectomy for hepatocellular carcinoma / 中华肝胆外科杂志

Objective:To study the use of laparoscopic hepatic vein guided anatomic hepatectomy in the treatment of hepatocellular carcinoma.Methods:The clinical and follow-up data of 62 patients who underwent laparoscopic anatomic hepatectomy at the Department of Hepatobiliary Surgery of Southwest Hospital of the Army Medical University from January 2015 to February 2018 and met the inclusion criteria of the study were retrospectively analyzed. The operation procedure as to whether the main hepatic vein was exposed or not was determined. The patients were divided into the hepatic vein-oriented hepatectomy (HVOH) group when the main hepatic vein was exposed, and the traditional anatomic hepatectomy (TAH) group when the main hepatic vein was not shown. The perioperative and follow-up data of the two methods were compared.Results:A total of 31 cases were included in the HVOH group, there were 28 males and 3 females, age ranged from 29.0-70.0 (49.9±11.2) years. A total of 31 cases were included in the TAH group, there were 27 males and 4 females, age ranged from 22.0-73.0 (51.4±12.1) years. There were no significant differences in operation time, intraoperative blood loss, postoperative hospital stay, intraoperative conversion to open, and perioperative blood transfusion rates between the two groups ( P>0.05). The incidence of postoperative complication was significantly lower in the HVOH group than in the TAH group [9.7% (3/31) vs. 32.2% (10/31)] ( P<0.05), but no serious complications occurred (Clavein Level IV) in this study. The one-year tumor-free survival rate in the HVOH group was significantly higher than that in the TAH group (77.4% vs. 51.6%), ( P<0.05). There were no significant differences in the 1- and 3-year overall survival rates and tumor-free survival rates between the two groups ( P>0.05). Conclusion:Laparoscopic hepatic vein-guided anatomic hepatectomy for hepatocellular carcinoma had the potential advantages in reducing the perioperative complication rate, and enhanced the early tumor-free survival rates.

Laparoscopic hepatectomy in special liver segments / 中国医师杂志

Laparoscopic hepatectomy has been gradually accepted by liver surgeons because of its advantages such as minimal invasive approach. However, laparoscopic hepatectomy in special liver segments ( Ⅰ, Ⅳa, Ⅶ, Ⅷ) isn't carried out due to difficult technology and high risk. In this paper, the operative strategies and key points of laparoscopic hepatectomy were discussed in special liver segments based on relevant literature and our own experience.

Clinical efficacy of laparoscopic hepatectomy for intrahepatic cholangiocarcinoma / 中华消化外科杂志

Objective To investigate the clinical efficacy of laparoscopic hepatectomy for intrahepatic cholangiocarcinoma (ICC).Methods The retrospective cross-sectional study was conducted.The clinicopathological data of 62 patients with ICC who were admitted to Mengchao Hepatobiliary Hospital of Fujian Medical University (32 patients) and the First Hospital Affiliated to Army Medical University (30 patients) between January 2013 and January 2018 were collected;there were 35 males and 27 females,aged from 25 to 77 years,with an average of 60 years.According to the preoperative and intraoperative situations,lymph node dissection was performed,and anatomical or non-anatomical laparoscopic hepatectomy were performed based on tumor size and location.Observation indicators:(1) surgical and postoperative recovery;(2) pathological examination results;(3) follow-up and survival situations.Follow-up was conducted by telephone interview and outpatient examination once every 3 months to detect tumor-free survival and overall survival of patients up to June 2018.Measurement data with normal distribution were represented as Mean±SD.Measurement data with skewed distribution were represented as M (range).Count data were described as absolute number and percentage.The survival curve and rate were drawn and calculated by the Kaplan-Meier method.Results (1) Surgical and postoperative recovery:all the 62 patients received successful laparoscopic hepatectomy,without conversion to open surgery or preoperative death,including 40 with anatomical hepatectomy and 22 with non-anatomical hepatectomy.There were 18 patients undergoing regional lymph node dissection.The operation time of 62 patients was (217±86)minutes.Of 62 patients,12 had hepatic vascular occlusion using the Pringle method with a total occlusion time of (14±7)minutes,45 received selective hepatic vascular occlusion and 5 did not receive hepatic portal occlusion.The volume of intraoperative blood loss was 282 mL (range,20-2 500 mL).Four patients had intraoperative infusion of suspended red blood cells.The time for out-of-bed activity,time to initial anal exsufflation,time of abdominal drainage-tube removal,recovery time of liver function to normal level were 1 day (range,1-3 days),2.5 days (2.0-4.0 days),(4.4±1.3)days,(6.8±1.6) days.There was no liver failure.Six of 62 patients had postoperative complications,including 5 with thoracic and abdominal effusion,3 with abdominal infection,2 with pulmonary infection,2 with bile leakage,1 with intraperitoneal hemorrhage,1 with urinary retention,1 with postoperative incision infection,multiple complications might occur in the same patient.Two of 6 patients with complications of Clavien-Dindo Ⅲ were improved by symptomatic treatment.The other patients had no clear complications.The duration of postoperative hospital stay was (13±9) days.Thirteen patients received preventive TACE treatment after surgery,9 received 4-6 courses of chemotherapy,2 received both TACE and chemotherapy with chemotherapy drug of Tegafur or gemcitabine combined with cisplatin.(2) Pathological examination results:the tumor diameter of 62 patients was (5.4±3.3)cm,including 38 with the diameter ≤ 5 cm and 24 with the diameter ＞5 cm.There were 56 patients of mass-forming type,4 of intraductal growth type and 2 of periductal infiltrating type.High-,moderate-,poor-differentiated adenocarcinoma were respectively detected in 10,37 and 15 of 62 patients.The distance of surgical margins to tumor was ＞ 1.0 cm in 57 patients.There were 60 patients with negative surgical margin,1 patient of intraductal growth type and 1 of periductal infiltrating type with positive margin.Lymph node dissection was performed in 18 patients,among which 11 were pathologically positive,otherwise,there were 16 patients with microvascular invasion,and 4 patients with peripheral nerve infiltration.TNM stages of 62 patients:stage Ⅰ A,stage Ⅰ B,stage Ⅱ and stage ⅢB were respectively detected in 14,23,14 and11 patients.(3) Follow-up and survival situations:62 patients were followed up for (22± 12) months.The 1-and 3-year disease-free survival rates were 65.2％ and 39.8％ respectively.The 1-and 3-year overall survival rates were 89.6％ and 52.5％ respectively.During the follow-up,2 of 44 patients without lymph node dissection had liver portal lymph node metastasis,1 had extensive lymph node metastasis,2 died of other causes at 6 months and 18 months after operation.Conclusion Routine laparoscopic radical resection of intrahepatic cholangiocarcinoma with regional lymph node dissection is safe and effective,however,laparoscopic hepatectomy should be carefully selected for intraductal growth type and periductal infiltration type.

Laparoscopic classification and treatment of extrahepatic biliary dilatations / 中华肝胆外科杂志

Objective To establish a laparoscopic classification of extrahepatic biliary dilatations (EHBD) that can guide minimally invasive treatment.Methods According to inclusion criteria,124 patients with EHBD who were admitted and treated from July 2001 to July 2017 in the First Hospital Affiliated to Army Military Medical University were included in this study.A new laparoscopic classification of EHBD was proposed based on the preoperative imaging data and laparoscopic findings of the position and extent of EHBD.The minimally invasive diagnosis and treatment strategies were made based on the new classification.Results According to the preoperative imaging data and intraoperative laparoscopic findings,124 patients with EHBD were divided into the following groups:type A (upper segment,34 cases),type B (middle segment,27 cases),type C (lower segment,20 cases),and type D (entire bile duct,43 cases).The clinical symptoms (abdominal pain,jaundice and mass) and reoperation rates were not significantly different among the 4 groups(both P＞0.05).The incidences of comorbidities (calculus or inflammation) were significantly different (P＜0.05).The operative time(type A:237.6±66.7 min,type B:259.2±60.0 min,type C:286.1 ± 74.7 min,type D:347.5±94.4 min) and blood loss (type A:192.6±102.2 ml,type B:201.5±120.2 ml,type C:297.5±162.1 ml,type D:305.8±237.3 ml) were significantly different among the groups (P＜ 0.05).The short-term complication rates after surgery (5.9％ ～ 20.0％) were significantly different (P＜ 0.05),while the long-term complication rates after surgery (7.4％ ～ 10.0％) were not significantly different.The conversion rates to open surgery were significantly higher in patients with type C and D lesions than in those with type A and B lesions (P＜0.05).Conclusion This laparoscopic classification predicted the difficulty of laparoscopic surgery for EHBD and had a guiding significance in the minimally invasive treatment for this disease entity.