Application value of manual anastomosis of gastroduodenum in totally laparoscopic distal gastrectomy / 中华消化外科杂志

Objective:To investigate the application value of manual anastomosis of gastro-duodenum in totally laparoscopic distal gastrectomy.Methods:The retrospective cohort study was conducted. The clinicopathological data of 55 patients with gastric cancer who underwent totally laparoscopic distal gastrectomy combined with gastrointestinal anastomosis in the Tianjin Medical University Cancer Institute & Hospital from January 2020 to October 2022 were collected. There were 34 males and 21 females, aged 61(range, 29?75)years. Of 55 patients, 25 patients undergoing manual anastomosis of gastroduodenum were divided into the manual anastomosis group, 30 patients undergoing modified Delta anastomosis of gastroduodenum were divided into the modified Delta anastomosis group. Observation indicators: (1) surgical situations; (2) postoperative complications. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers, and comparison between groups was conducted using chi-square test or Fisher exact probility. Results:(1) Surgical situations. All 55 patients underwent surgery successfully, without conversion to laparotomy. The distance from the superior margin of tumor to the upper margin, anastomosis time, number of bookings used were (48±4)mm, (22.6±2.3)minutes, 3.2±0.5 in the manual anastomosis group, versus (41±4)mm, (14.0±1.4)minutes, 5.2±0.4 in the modified Delta anastomosis group, showing significant differences in the above indicators between the two groups ( t=5.04, 16.38, ?17.13, P<0.05). The location of tumor (antrum, gastric angle) was 18, 7 in the manual anastomosis group, versus 29, 1 in the modified Delta anastomosis group, showing a significant difference between the two groups ( P<0.05). (2) Postoperative complications. There was no patient undergoing anastomotic fistula in both of manual anastomosis group and modified Delta anastomosis group, and there was 1 patient undergoing anastomotic stenosis in the modified Delta anastomosis group. Conclusion:Compared with modi-fied Delta anastomosis of gastroduodenum,totally laparoscopic distal gastrectomy with manual anas-tomosis of gastroduodenum can remove more gastric tissue, and decrease the number of bookings used.

Functional gastrointestinal reconstruction strategies after laparoscopic proximal gastrectomy / 中华消化外科杂志

The incidence of adenocarcinoma of esophagogastric junction is gradually increa-sing. The metastasis of the distal lymph node of upper gastric cancer with tumor diameter <4 cm is rare, and proximal gastrectomy can meet the requirements of radical treatment. Reflux esophagitis, food stasis, anastomotic stenosis, and poor nutrient absorption are important factors affecting the quality of life of patients undergoing proximal gastrectomy. With the continuous promotion of laparoscopic radical gastrectomy, laparoscopic proximal gastrectomy with lymph node dissection has been standardized. However, the method of digestive tract reconstruction has not yet reached standardization consensus, and anti-reflux has become a hot spot in clinical attention in recent years. Through interpositioned jejunum reconstruction to achieve anti-reflux effect, or retaining or rebuilding the anti-flow structure of esophageal residual gastric anastomosis include a variety of additional anti-reflux surgery, which have their own different advantages and disadvan-tages. The authors introduce in detail a variety of mainstream anti-reflux surgery, and its modified program, with the aim of providing reference for colleagues and maximizing the benefits of patients.

Effects of ICG-001 on autistic behaviors and the development of hippocampal dendritic spine morphology in rats / 中华实用儿科临床杂志

Objective:To explore the effects of the compound ICG-001 on autism-like behaviors and the morphological development of dendritic spines in hippocampal pyramidal neurons of rats.Methods:Healthy Wistar rats were mated.The offspring were divided into the saline-treated group, ICG-001 control group, Sodium valproate (VPA) group and ICG-001 treatment group by using the random number table method.Each group had 12 rats.Social interaction, repetitive, compulsive and anxiety-like behaviors in rodents were assessed by three-chambered social approach, marble burying, open-field and elevated plus maze tests.The number of neuronal nuclei (NeuN)-positive neurons in the hippocampal CA1 region was calculated by the immunofluorescence method.Golgi staining was carried out to detect the density and morphological changes of dendritic spines in hippocampal pyramidal neurons of rats.The expression of phosphorylated LIM kinase 1(LIMK1), phosphorylated actin binding protein(Cofilin), fibros actin (F-actin) and developmentally-regulated brain protein A (Drebrin A) was examined by Western blot.The univariate analysis was made to examine whether the difference was statistically significant, and the data between groups were compared by the Tukey method. Results:(1) In the three-chambered social approach test, the rats in the saline-treated group, ICG-001 control group, VPA group and ICG-001 treatment group spent (219.42±5.38) s, (218.67±10.12) s, (126.58±5.02) s, and (218.58±6.63) s in the chamber, respectively.The corresponding preference score of the said 4 groups were 0.43±0.05, 0.43±0.04, 0.22±0.01 and 0.42±0.04, respectively.Compared with the VPA group, the ICG-001 treatment group spent longer time in the chamber and had a higher preference score (all P<0.05). (2) In the marble burying experiment, the number of marbles buried in said 4 groups were 9.13±0.52, 9.08±0.64, 15.13±0.82 and 9.42±0.86, respectively.ICG-001-treated rats buried markedly less marbles than VPA-exposed rats ( P<0.05). (3) In the open-field test, the rats in the said 4 groups spent (82.33±1.83) s, (81.32±4.19) s, (45.51±3.02) s and (81.44±3.19) s in the center area, respectively.Administration of ICG-001 significantly increased the time that VPA-exposed rats spent in the center area ( P<0.05). (4)In the elevated plus maze trial, the rats in the said 4 groups spent (107.75±7.23) s, (106.08±7.50) s, (63.42±1.91) s and (106.67±7.07) s in open arms, respectively.ICG-001 treatment notably increased the time that VPA-exposed rats spent in open arms ( P<0.05). (5) Immunofluorescence analysis results revealed that the number of NeuN-positive cells in the hippocampal CA1 region of said 4 groups was (41.83±1.17)×10 4/μm 2, (41.00±0.77)×10 4/μm 2, (27.17±0.95)×10 4/μm 2 and (40.00±0.90)×10 4/μm 2, respectively.ICG-001 treatment normalized the alteration in the number of NeuN-containing neurons in VPA-exposed rats ( P<0.05). (6) Golgi staining showed that the density of dendritic spines in hippocampal CA1 pyramidal neurons of said 4 groups was (0.74±0.04)/μm, (0.73±0.03)/μm, (0.49±0.03)/μm and (0.70±0.02) /μm, respectively.Of all types of dendritic spines, mushroom spines accounted for (0.49±0.02)%, (0.49±0.02)%, (0.33±0.02)% and (0.43±0.02) % in said 4 groups.Thin spines accounted for (0.27±0.02)%, (0.26±0.02)%, (0.34±0.01)% and (0.26±0.01) % in said 4 groups, respectively.Compared with the VPA group, the ICG-001 treatment group showed a significant increase in the density of dendritic spines in hippocampal CA1 pyramidal neurons ( P<0.05). After ICG-001 treatment, the number of mushroom spines greatly increased and the number of thin spines sharply decreased in VPA-exposed rats (all P<0.05). (7) According to Western blot test results, the phosphorylated LIMK1/LIMK1 ratio of the hippocampus in said 4 groups were 100.33±2.30, 99.34±2.28, 57.76±4.10 and 99.13±1.90, respectively.The phosphorylated Cofilin /Cofilin ratio were 100.18±2.43, 100.18±1.70, 57.12±1.88 and 99.53±1.69, respectively.The F-actin/globular actin(G-actin) ratio were 100.07±0.86, 99.99±1.72, 51.19±1.23 and 99.28±3.17, respectively.The expression level of Drebrin A were 100.79±1.19, 100.12±2.04, 52.86±3.26 and 99.97±2.44, respectively.Administration of ICG-001 effectively prevented the decrease of phosphorylated LIMK1, phosphorylated Cofilin, F-actin and Drebrin A in the hippocampus of VPA-exposed rats (all P<0.05). Conclusions:ICG-001 regulates the LIMK1/Cofilin signaling pathway, promotes the generation of F-actin, increases the expression of Drebrin A, and thereby alleviates autistic-associated symptoms.

Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).@*METHODS@#A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.@*RESULTS@#The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.@*CONCLUSION@#The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.

A case of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene shear variation and literature review / 中华神经科杂志

Objective:To summarize the clinical phenotype and genetic characteristics of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene variation. Methods:The clinical and genetic data of a child with Poirier-Bienvenu neurodevelopmental syndrome caused by shear variant of CSNK2B gene who was diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2022 were collected. Previous relevant literature at home and abroad was reviewed to summarize the clinical characteristics of the disease. Results:The child was a girl aged 13 months, mainly due to "intermittent convulsions for 2 months" for consultation. The clinical manifestations of the girl were normal face, generalized tonic-clonic seizures, low intelligence, language and motor retardation, and there was no abnormality in the long-range video electroencephalography and the head magnetic resonance imaging. No abnormality was found in chromosome karyotype analysis and chromosome coefficient of copy variation analysis. The whole exon gene sequencing test indicated that the child carried de novo heterozygous shear variant of CSNK2B gene c.291+5G>C, which had not been reported in the literature. According to the clinical manifestations and genetic examination results of the child, the diagnosis of Poirier-Bienvenu neurodevelopmental syndrome was clear. The CSNK2B gene of the proband′s parents and the twin sister was wild-type. The application of sodium valproate anti-seizure medication could effectively control the seizures of the child, and by giving rehabilitation function training, the child′s language and gross motor function was improved. Conclusions:The Poirier-Bienvenu neurodevelopmental syndrome is a rare autosomal dominant disorder caused by variants in the CSNK2B gene. The clinical manifestations are infancy-onset seizures, intellectual development disorders, language and motor development disorders, etc, and the video electroencephalogram and skull magnetic resonance are mostly normal. The CSNK2B gene shear variant is the genetic etiology of the proband.

Test-retest reliability analysis of MRI criteria in the 2019 Bosniak classification of cystic renal masses / 中华放射学杂志

Objective:To evaluate the test-retest reliability of MRI criteria in the 2019 Bosniak classification of cystic renal masses (CRMs) and to analyze the impact of lesions′ property, size and readers′ experience on the test-retest reliability.Methods:From January 2009 to June 2019, 207 patients with 207 CRMs were included in this retrospective study. All of them underwent renal MRI and surgical-pathologic examination. According to Bosniak classification, version 2019, all CRMs were independently classified twice by eight radiologists with different levels of experience. All radiologists were blinded to the pathology of the lesions. By using intraclass correlation coefficient (ICC), test-retest reliability was evaluated for all CRMs and for subgroups with different pathological properties (benign and malignant) and different sizes (≤40 mm and>40 mm). The test-retest reliability of 4 senior readers (≥10 years of experience) and 4 junior readers (<10 years of experience) were evaluated respectively. The comparison of ICC was performed using Z test. Results:The 207 CRMs included 111 benign lesions (83 benign cysts, 28 benign tumors) and 96 malignant tumors. There were 87 lesions with maximum diameter ≤40 mm and 120 with maximum diameter>40 mm. The test-retest reliability (ICC) of each reader for all lesions was 0.776-0.888, the overall ICC was 0.848 (95%CI 0.821-0.872). The ICCs of senior and junior readers were 0.853 (95%CI 0.824-0.880) and 0.843 (95%CI 0.811-0.871) respectively, without significant difference between the two groups ( Z=0.85, P=0.374). The ICC of all readers was 0.827 for benign lesions and 0.654 for malignant lesions, showing significant difference ( Z=2.80, P=0.005). The ICC was 0.770 for lesions ≤40 mm and 0.876 for lesions>40 mm, which was significantly different ( Z=-2.36, P=0.018). For CRM subgroups with different pathological properties and different sizes, there was no significant difference in test-retest reliability between senior and junior readers (all P>0.05). Conclusion:The test-retest reliability of MRI criteria in the 2019 Bosniak classification of CRMs is excellent and unaffected by readers′ experience. The reliabilities are not consistent among CRMs of different pathological properties and different sizes, but all reached the level of good and above.

Clinical features and gene mutation analysis of CDKL5 gene related early-onset epileptic encephalopathy / 中华神经科杂志

Objective:To investigate the clinical characteristics and gene mutation of seven cases of CDKL5 gene related early-onset epileptic encephalopathy diagnosed by next-generation sequencing.Methods:The clinical data of children with early-onset epileptic encephalopathy from February 2018 to December 2019 in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were retrospectively analyzed. The whole exome sequencing method was used to analyze the entire exome of the proband, and seven cases of CDKL5 gene mutation positive were screened out, and Sanger sequencing verification on family members was performed to identify the source and the characteristics of gene mutations were analyzed.Results:Among the seven children diagnosed with CDKL5 gene related early-onset epileptic encephalopathy, the ratio of male to female was 2∶5, and the age of onset was 15 days to five months of birth. The clinical phenotypes all included different degrees of developmental delay and repeated seizures, which were manifested as general seizures, myoclonic seizures, convulsive seizures or focal seizures; the outcome of use of antiepileptic drugs to control seizures was poor, and some applications of ketogenic diet had better effects. CDKL5 gene mutation sites were all denovo mutations, including NM_003159: c.772_776del (p.K258Efs *10) frameshift mutation, NM_003159.2 (exon: 9-15) heterozygous deletion, CDKL5 hemizygous deletion, NM_003159: c.268 (exon5) G>T (p.E90 *, 941) and NM_003159: c.2578C>T (p.Q860 *, 171) nonsense mutation, NM_003159: c.211A>G (p.Asn71Asp) and NM_001323289: c.545T>C (p.L182P) missense mutation. Among them, c.772_776del (p.K258Efs *10), c.268 (exon5)G>T and c.2578C>T (p.Q860 *, 171) have not been reported. Conclusions:CDKL5 gene related early-onset epileptic encephalopathy is an early onset epilepsy, which is more common in women, and has different forms of seizures. The early electroencephalogram is characterized as severe abnormal brain discharge, and the disease progresses in various forms. There are no specific changes in head magnetic resonance imaging. Different gene mutation sites may lead to different phenotypes and prognostic differences. Many anti-epileptic treatments are ineffective, and ketogenic diets are effective for some patients.

Clinical phenotype and genetic analysis of pyridoxine dependent epilepsy induced by aldehyde dehydrogenase 7 family member A1 gene mutation / 中华神经科杂志

Objective:To investigate the clinical phenotypes, therapy and genetic features of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.Methods:Retrospective analysis was carried out on clinical data of five cases of PDE children with early epilepsy onset who were treated in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University from February 2018 to November 2019. Next generation sequencing approach was used for genetic sequencing of proband ALDH7A1 gene and the first generation Sanger was used for validation of family members. And the characteristics of gene mutations were analyzed.Results:Among the five children diagnosed with PDE, the male to female ratio was 4 ∶ 1 and ages at clinic visit ranged from two months to 10 months old. In clinical phenotypes, all five cases experienced onset in neonatal period, with repeated seizures, manifested as myoclonus, spasms or focal paroxysm. The administration of antiepileptic drugs performed poorly in seizure control while long term oral intake of large dose pyridoxine showed better efficacy. All the five cases of children came from compound heterozygous mutations of father and mother, i.e. slicing homozygous mutation c.247-2(IVS2)A>T, missense mutation c.584A>G (p.N195S) and nonsense mutation c.1003C>T(p.R335 *), missense mutation c.1553G>C(p.R518T) and c.1547A>G(p.Y516C), missense mutation c.1547A>G(p.Y516C) and frameshift mutation c.1566_1568delTAC, missense mutation c.1061A>G(p.Y354C) and nonsense mutation c.841C>T(p.Q281X, 259), among which c.247-2(IVS2)A>T was novel splicing site mutation not reported before. Conclusions:PDE is induced by ALDH7A gene mutation. Early clinical manifestations are mostly onset of refractory epilepsy in neonatal period. Antiepileptic drugs perform poorly in terms of efficacy while pyridoxine can control seizure effectively. Gene analysis should be conducted on such patients for confirmed diagnosis.

Acute necrotizing encephalopathy in a child caused by human herpesvirus-6 infection / 中华神经科杂志

Objective:To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) infection.Methods:Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from Children′s Hospital Affiliated to Zhengzhou University in March 2019.Results:The one year and seven month-old child had acute encephalopathy, recurrent convulsions, consciousness disorders, elevated serum transaminase. The number of cerebrospinal fluid (CSF) cells was normal and the protein increased. High throughput gene testing of CSF showed HHV-6. Cranial magnetic resonance imaging showed multiple symmetry damage in the bilateral thalamus, brainstem, and cerebellum. The symptoms improved after the treatment of glucocorticoids, intravenous immunoglobulin, and plasmapheresis.Conclusions:ANE is a rare severe encephalopathy, the characteristic imaging change of which is symmetry multifocal cerebral damage, especially in the bilateral thalamus. ANE should be considered for patients with frequent convulsions and disturbance of consciousness after virus infection.

Clinical characteristics and genetic analysis of early epileptic encephalopathy caused by YWHAG gene mutation / 中华神经科杂志

Objective:To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation, and discuss the clinical and genetic characteristics as well as the diagnosis, treatment and prognosis of the disease.Methods:Clinical data of the patient with YWHAG gene deficiency from Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were collected in January 2018. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene mutations were analyzed.Results:The proband is a girl, three years and 10 months old, presented to the outpatient department of neurology with a history of six-month intermittent convulsions, manifested as epilepsy seizures, mental retardation, motor delay and gait instability, ataxia. The brain magnetic resonance imaging showed myelinated dysplasia, and long-term video electroencephalogram (EEG) showed extensive 1.5-3.0 Hz slow spikes, and multiple spikes during sleep. During the monitoring, the children had clinical seizures and abnormal EEG discharges, indicating that myoclonus was accompanied by atypical absence of consciousness. Whole exome sequencing on the proband detected a de novo mutation c.169C>T (p.Arg57Cys) in YWHAG gene. According to American College of Medical Genetics guidelines (2015), the mutation was considered potentially pathogenic.Conclusion:Early epileptic encephalopathy caused by YWHAG gene mutation is very rare, and the variation of YWHAG gene c.169C>T is the possible pathogenic variation of the genetic cause of early onset epileptic encephalopathy in the proband.

Analysis of clinical phenotype and genotype of Jansen-de Vries syndrome caused by PPM1D gene mutation / 中华神经科杂志

Objective:To investigate the clinical phenotype of a child with Jansen-de Vries syndrome, to clarify its genetic diagnosis and genetic characteristics, and to improve the understanding of this disease.Methods:Clinical data from a child with Jansen-de Vries syndrome diagnosed in the Children′s Affiliated Hospital of Zhengzhou University in October 2019 were collected, using core family-complete exon genomics detection (Trio-WES) and chromosome copy number variation (CNV) analysis techniques for genetic testing for the child and her parents, generation Sanger sequencing for family member verification for possible pathogenic mutations, and clinical and molecular genetic analysis. The relevant reports of PPM1D gene mutation in patients with mental retardation were reviewed.Results:The proband was a 11-month-old girl, presenting with mental retardation, lagging speech and motor development, autistic behavior, gastrointestinal dysfunction, and short stature, low flat nose bridge, low ear, short finger syndrome.Trio-WES results of the core family of the child suggested that PPM1D was a new transcoding heterozygous mutation, PPM1D (NM-003620): c.1216delA (p.Thr406Profs *3), and the karyotype and CNV analysis of the chromosome were normal. Literature retrieval showed currently a total of 18 cases were reported PPM1D gene mutation of mental disorders, described in the online human Mendel database for developmental disorder associated with gastrointestinal dysfunction and pain threshold increases, the age distribution in the seven months to 21 years of age, clinical manifestation of mental retardation, increased pain threshold, abnormal behavior, feeding difficulties, visual impairment, short finger syndrome, a group of syndromes associated with short stature, fever or vomiting, and congenital deformities. Conclusions:Jansen-de Vries syndrome clinically presents mainly with overall retardation (mental retardation/backward delayed motor development, language development, low muscle tone), abnormal behavior (lonely sample behavior, autism), craniofacial malformations (broad forehead, low ear nose bridge, thin upper lip), short finger syndrome (short feet, pinky stubby), gastrointestinal dysfunction (milk overflow, feeding difficulties, constipation). The child was diagnosed as a newly transcoding heterozygous mutation of the PPM1D gene. The current treatment is mainly rehabilitation training, and growth hormone replacement therapy can be given to part of the short height disease. The PPM1D gene [PPM1D(NM-003620): c.1216delA(p.Thr406Profs *3)] is the genetic cause of the child.

Clinical efficacy of radical proximal gastrectomy with esophagogastrostomy and double-tract anastomosis for upper gastric cancer / 中华消化外科杂志

Objective:To investigate the clinical efficacy of radical proximal gastrectomy with esophagogastrostomy and double-tract anastomosis for upper gastric cancer.Methods:The retrospective cohort study was conducted. The clinicopathological data of 172 patients who underwent radical proximal gastrectomy for upper gastric cancer in Tianjin Medical University Cancer Institute and Hospital from January 2018 to December 2020 were collected. There were 147 males and 25 females, aged from 25 to 81 years, with a median age of 62 years. All the 172 patients underwent digestive reconstruction. Of the 172 patients, 83 cases undergoing esophagogastrostomy were allocated into esophagogastrostomy group, 89 cases undergoing double-tract anastomosis were allocated into double-tract anastomosis group. Patients were performed radical proximal gastrectomy combined with D 1+ lymph node dissection by attending surgeons from department of gastric cancer. The operator decided to adopt esophagogastrostomy or double-tract anastomosis for digestive reconstruction. Observation indicators: (1) surgical situations; (2) follow-up. Follow-up using outpatient examination, telephone interview, and online APP was conducted at postoperative 1 month, once three months within postoperative 2 years, and once six months within postoperative 2-5 years. The questionnaires of reflux esophagitis, gastroscopy and upper gastrointestinal angio-graphy were conducted to evaluate gastroesophageal reflux and anastomotic stenosis up to February 1, 2021. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M (range), and comparison between groups was analyzed using the Mann-Whitney U test. Comparison of ordinal data was analyzed using the non-parameter rank sum test. Count data were represented as absolute numbers, and comparison between groups was analyzed using the chi-square test. Results:(1) Surgical situations: cases with open, laparoscopic or Da Vinci robotic surgery (surgical method), the number of metastatic lymph node, duration of postoperative hospital stay were 74, 9, 0, 2(range, 0-15), (12±4)days for the esophagogastrostomy group, versus 65, 15, 9, 3(range, 0-28), (11±3)days for the double-tract anastomosis group, respectively, showing significant differences in the above indicators between the two groups ( χ2=10.887, Z=-1.058, t=3.284, P<0.05). (2) Follow-up: 172 patients were followed up for 2-38 months, with a median follow-up time of 13 months. Cases with gastroesophageal reflux and anastomotic stenosis were 58 and 10 for the esophagogastrostomy group, versus 14 and 1 for the double-tract anastomosis group, respectively, showing significant differences in the above indicators between the two groups ( χ2=51.743, 7.219, P<0.05). Conclusions:For upper gastric cancer patients undergoing proximal radical gastrectomy, double-tract anastomosis is more suitable for Siewert type Ⅱ adenocarcinoma of esophagogastric junction in large curvature or lower located tumor. Compared with esophago-gastrostomy, double-tract anastomosis has lower incidence of postoperative gastroesophageal reflux and anastomotic stenosis, without increasing complications.

Effects of atmospheric fine particulate pollution on the lung function of primary school students / 中国学校卫生

Objective@#To study the effects of atmospheric fine particulate pollution on the lung function of primary school students before and after heating during the winter in Zhengzhou.@*Methods@#In Zhengzhou, two areas with low and high level of PM 2.5 pollution(A and B), were selected as monitoring points from 2016 to 2018. Each monitoring station selected one elementary school within around 1 km and used a cluster random sampling method to extract students from grades 3 to 5 as the research subjects. Lung function tests were conducted before and after heating in winter, and mass concentration of PM 2.5 were recorded daily and compared to those recorded one month prior.@*Results@#The average daily mass concentration of PM 2.5 were 74 μg/m 3 and 92 μg/m 3 in the light pollution monitoring points A and the heavy pollution monitoring points B, which exceeded the standard for 97 and 126 days, respectively. The FVC and FEV1.0 indexes for the first test of male students before heating were higher than those for the second test from 2016-2018 (P<0.05). Except in 2016,the FVC and FEV1.0 indexes for the first test of female students were also higher than those for the second test (P<0.05). After stratified by sex,multivariate linear regression showed that PM 2.5 was associated with lung function as measured by the FEV1.0, PEF, FEF25 and FEF75 values of the students were negatively correlated (B=-0.13--0.07,-0.13--0.08,P<0.05).@*Conclusion@#Fine particulate air pollution before and after heating during the winter in Zhengzhou had different effects on the lung function of primary school students. Therefore, it is necessary to strengthen the respiratory health protection of primary school students in winter to protect their health.

Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.@*METHODS@#The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology.@*RESULTS@#The proband, a 7-year-and-8-month-old boy, presented with thin curly hair, thin and sparse eyebrow, xerosis cutis, susceptibility to hyperthermia from childhood, hypohidrosis, sharp/sparse/absent teeth, saddle nose, prominent forehead, auricle adulation and seizure. He was found to have a normal chromosomal karyotype, and no abnormality was found by Trio-WES. Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1 (chrX: 68 796 566-69 138 468). As verified by PCR-electrophoresis, the deletion has removed part of the EDA gene. The deletion was derived from his mother with normal hair, mild xerosis cutis, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).@*CONCLUSION@#Both the proband and his mother have carried a Xq13.1 microdeletion involving part of the EDA gene. The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED, for which partial deletion of the EDA gene is probably accountable.

Clinical phenotype and genetic analysis of neurofibromatosis type 1 caused by neurofibromatosis type 1 gene mutation / 中华神经科杂志

Objective:To investigate the clinical phenotype and summarize the genetic characteristics of children with neurofibromatosis type 1 (NF1) diagnosed by next-generation sequencing.Methods:The clinical data of 12 children with NF1 who were admitted to the Department of Neurology of the Children's Hospital Affiliated to Zhengzhou University from December 2017 to October 2019 were retrospectively analyzed. The next-generation sequencing method was used to sequence the NF1 gene of the probands and the mutations were verified by PCR-Sanger sequencing.Results:Among the 12 children diagnosed with NF1 (male: female=11: 1), who aged from seven months to 11 years old, the main complaints were seizures and skin with café-au-lait spots. Five children were found with freckles in axillae, and two with cutaneous neurofibroma. Six cases had seizures, two children suffered spastic seizures, two with generalized tonic-clonic seizures, one with typical absence seizure, one with focal seizure, one case had severe headache and vomiting. Fortunately for the children with seizures, anti-epileptic drugs had a good prognosis. There were five mutation types detected in 12 cases, including one case of loss of overall heterozygosity in NF1 gene; three missense mutations: c.7867C>A (p.L2623I), c.7855C>A (p.L2619I) and c.7792C>A(p.L2598I); three frameshift mutations: c.3162delC(p.N1054Nfs *8), c.540dupA (p.Q181Tfs *20) and c.2027dupA(p.V679Pfs *21); three nonsense mutations: c.1467T>A(p.Y489X, 2351), c.1318C>T(p.R440X, 2400) and c.1411C>T(p.K471X, 2369); two splicing mutations: c.2326-2(IVS10)G>C and c.1186-1(IVS10)G>C. Nine children were found with spontaneous mutations, one case was inherited from the father, and two cases were inherited from the mother. c.7867C>A(p.L2623I), c.7855C>A(p.L2619I), c.3162delC(p.N1054Nfs *8), c.1411C>T(p.K471X, 2369), c.2326-2(IVS10)G>C, c.1186-1(IVS10)G>C were unreported mutations in literature. Conclusions:NF1 is caused by NF1 gene mutation. The early clinical manifestations of children with NF1 defect presented with café-au-lait spots, and some suffered seizures. For patients with multiple café-au-lait spots and seizures in the clinic, genetic analysis should be performed as soon as possible to confirm the diagnosis.

Analysis of the clinical phenotype and tripeptidyl peptidase-1 gene mutation in a family with type 2 neuronal ceroid lipofuscinosis / 中华神经科杂志

Objective:To summarize the clinical phenotype and tripeptidyl peptidase-1 (TPP1) gene mutation characteristics in a family with type 2 neuronal ceroid lipofuscinosis (CLN2) confirmed by second generation sequencing. Methods:The clinical data of a family with CLN2 from the Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University in June 2018 were collected. The proband was confirmed by using the whole-exome sequencing and the Sanger test of the first generation was used in the family members, and the mutation characteristics of TPP1 gene were analyzed, and the clinical features were summarized.Results:The proband is a three-year- and nine-month-old girl, presented with generalized tonic-clonic seizures, normal mental function, mild backward development of language and movement. The ophthalmic examination showed binocular ametropia, normal visual acuity, and no macular degeneration. Cranial magnetic resonance imaging (MRI) showed widening of the subarachnoid space in the frontotemporal region, deepening of the sulci, and cerebellar atrophy. There were two heterozygous mutations in the TPP1 gene, from her parents with normal phenotypes respectively. The c. 1449-1450insG (p.I484Dfs*7) mutation comes from her father, which is an unreported heterozygous mutation of code-shifting, whereas the c.1417G>A(p.G473R) mutation comes from her mother, which is a known missense mutation, consistent with the characteristic of CLN2 complex heterozygous mutation. The proband′s elder brother, whose first symptom was myoclonic seizure at the age of three, and now he is seven years old with progressive visual impairment and regression of intellectual, motor and cognitive functions. The ophthalmic examination showed retinal degeneration, and the cranial MRI showed whole-brain atrophy with obvious cerebellar atrophy. The pathogenic gene of TPP1 and the complex heterozygous mutation site were consistent with the proband. Now the proband′s younger brother is 2-year- and 10-month-old, whose phenotype is normal, with a single heterozygous mutation of c.1417G>A (p.G473R), which comes from their mother, and the parents of the proband have no clinical phenotype. Conclusions:CLN2 is a rare lysosomal storage disorder that is characterized by seizures, progressive mental and motor deterioration, loss of vision and brain atrophy on MRI, binocular macular degeneration. TPP1 complex heterozygous mutation c. 1449-1450insG(p.I484Dfs*7) and c.1417G>A(p.G473R) is the genetic cause of this case.

Effect of dexmedetomidine mixed with dexamethasone on efficacy of ropivacaine for popliteal sciatic nerve block in patients undergoing ankle surgery / 中华麻醉学杂志

Objective:To evaluate the effect of dexmedetomidine mixed with dexamethasone on efficacy of ropivacaine for popliteal sciatic nerve block in the patients undergoing ankle surgery.Methods:A total of 120 patients of either sex, aged 30-64 yr, with body mass index of 19.6-29.7 kg/m 2, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, undergoing elective ankle surgery, were divided into 4 groups ( n=30 each) by a random number table method: control group (group C), dexmedetomidine group (group DD), dexamethasone group (group DM), and dexmedetomidine plus dexamethasone group (group DD+ DM). In group C, 0.5% ropivacaine 30 ml was injected around the popliteal sciatic nerve guided by ultrasound combined with a nerve stimulator.Dexmedetomidine 1 μg/kg, dexamethasone 10 mg and dexmedetomidine 1 μg/kg plus dexamethasone 10 mg were added to 0.5% ropivacaine in group DD, group DM and group DD+ DM, respectively.The analgesic time, consumption of sufentanil and adverse reactions were recorded after popliteal sciatic nerve block. Results:Compared with group C, the analgesic time was significantly prolonged, the consumption of sufentanil was reduced, and the incidence of nausea and vomiting was decreased in group DD, group DM and group DD+ DM ( P<0.05). Compared with group DD and group DM, the analgesic time was significantly prolonged, and the consumption of sufentanil was reduced in group DD+ DM ( P<0.05). No itching, drowsiness, hypotension, bradycardia or respiratory depression occurred in each group. Conclusion:Dexmedetomidine mixed with dexamethasone can effectively enhance the efficacy of ropivacaine for popliteal sciatic nerve block in the patients undergoing ankle surgery.

Diagnosis and surgical strategies for Siewert type Ⅱ adenocarcinoma of esophagogastric junction / 中华消化外科杂志

The incidence of adenocarcinoma of esophagogastric junction (AEG) is increasing year by year. Surgical treatment is the most important treatment in the multidisciplinary comprehensive treatment. Because of the particularity of anatomy and biological behaliars, there are many disputes in surgical treatment. It mainly focuses on the choice of surgical approach, scope of surgical resection and guarantee of the safety of surgical margin, scope of lymph node dissection, choice of digestive tract reconstruction after radical operation, role of neoadjuvant treatment in surgical treatment, etc, which need to be confirmed through more randomized clinical studies. The authors discuss the disputes of the surgical diagnosis and treatment strategies of Siewert Ⅱ AEG in the era of minimally invasive surgery.

Applying directional optical coherence tomography to observe the thickness distribution of retinal outer nuclear layer and influencing factors in normal subjects / 中华眼底病杂志

Objective:To observe the thickness distribution of retina outer nuclear layer (ONL) by directional optical coherence tomography (D-OCT), and analyze variation of ONL thickness with age, gender and anatomical location.Methods:Cross sectional observational study. From August 2017 to January 2019, the patients were included who had no abnormal eyes in Beijing Tongren Hospital, and healthy volunteers were included in the study. Cirrus HD-OCT 5-line single line scanning mode was used to scan the macular area horizontally and vertically. The pupil diameter of all the tested eyes was more than 6 mm. The protocol was approved by The Medical College of Wisconsin Institutional Review Board. The detection light was incident on the temporal, nasal, upper and lower sides about 1.5 to 2.0 mm away from the pupil center to obtain an image that was oblique and clearly showed the Henle fiber layer (HFL). The upper and lower bounds of HFL and external limiting membrane (ELM) were manually labeled. The thickness of ONL and HFL+ONL were measured and recorded at 150 μm intervals on the horizontal and vertical radial lines with the fovea as the midpoint. The thickness of ONL in different anatomic location, ages and genders were compared. The influence of age and gender on ONL were analyzed by one-way ANOVA and independent sample t test respectively.Results:67 eyes of 67 subjects were enrolled. Among them, the mean age of 27 males (27 eyes) and 40 females (40 eyes) was 38.48±15.33 and 40.98±17.78 years respectively without significantly statistical difference ( t=-0.582, P=0.562). The total mean age was 39.97±16.98 years old. There were 11, 22, 22 and 12 patients aged less than 20, 20-39, 40-59 and over 60 years old respectively, according which they were divided into A, B, C and D groups. According to the anatomical location, the thickness of the ONL reached a maximum in the foveola, and then decreased as the eccentricity increased. Horizontally, ONL/ONL+HFL reached the minimum as 36.1% at 0.90 mm on the nasal side, while the minimum was 38.3% at 0.75 mm on the temporal side. Vertically, ONL/ONL+HFL reached the minimum as 36.2% at 0.75 mm inferiorly and 35.6% at 0.9 mm superiorly. There was no significant difference in the ONL thickness of fovea between group A, B,C and D ( P>0.05), however, a significant difference was among the four groups in the parafoveal and the perifovea ( P <0.05). The ONL thickness of the male was larger than that of the female, and the differences between them in parafoveal and perifovea showed statistically significant ( P<0.05). Conclusions:Normal people had the thickest ONL in the fovea. While the location is farther from the fovea, the ONL is thinner. The thickness of ONL in parafovea and perifovea is gradually thin with incerase of age. The thickness of ONL in the male is thicker than that in the female.

Current research status of optical coherence tomography angiography in hereditary retinochoroidal degeneration / 中华眼底病杂志

OCT angiography (OCTA) is a fast,noninvasive and quantifiable new technique,which is especially suitable for long-term follow-up in patients with hereditary retinochoroidal degeneration,such as retinitis pigmentosa,Best vitelliform macular dystrophy,adult onset foveomacular vitelliform dystrophy,doyne honeycomb retinal dystrophy,choroideremia and Stargardt disease.During the follow-up,clinicians can find the subtle signs that explain disease development from the blood flow imaging,quantitatively describe the vascular density,timely detect and treat choroidal neovascularization.It is significant to explore the etiology and monitor the course of these diseases.With the development of more treatments for these diseases,OCTA parameters can also be used as indicators to evaluate and compare different therapeutic effects.In the future,more quantitative indicators of OCTA will be applied to evaluate the course of hereditary retinochoroidal degeneration,and provide valuable basis for early diagnosis and treatment.