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Objective To compare the accuracy of bedside lung ultrasound in emergency(BLUE)and combined cardiac-lung and additional ultrasound(CLAUS)for diagnosing the causes of acute dyspnea.Methods Totally 1 016 patients with acute dyspnea were retrospectively enrolled and divided into cardiogenic pulmonary edema group(n=268),pneumonia group(n=574),pneumothorax group(n=33),pulmonary embolism group(n=67)and CAD(chronic obstructive pulmonary disease/asthma/diaphragmatic dysfunction)group(n=74)according to the causes of acute dyspnea.The findings of CLAUS protocol were compared among groups,and the accuracy of BLUE and CLAUS protocol for diagnosing the causes of acute dyspnea were also compared.Results CLAUS showed that B-B and B-C were the most common modes in cardiogenic pulmonary edema group,while A-B/A-C/B-A/B-B/B-C/C-C modes were common in pneumonia group,and A-A mode was the most common in pneumothorax group,pulmonary embolism group and CAD group.Significant differences of the manifestations of pulmonary ultrasound,pleural feature of anterior chest wall,left/right cardiac insufficiency and abnormal inferior vena cava diameter were found among groups(all P<0.05).The accuracy of BLUE and CLAUS protocol for diagnosing the causes of acute dyspnea was 86.91%(883/1 016)and 94.49%(960/1 016),respectively,the latter was higher than the former(χ2=34.587,P<0.05).Conclusion CLAUS protocol could be used to effectively diagnose the causes of acute dyspnea,with higher accuracy than BLUE protocol.
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Objective:To summarize the clinical phenotype and genetic characteristics of biallelic variation in HPDL leading to neurodevelopmental disorders with progressive spasticity and cerebral white matter abnormalities. Methods:The clinical and genetic data of 3 cases with neurodevelopmental disorders confirmed in the Department of Neurology of the Affiliated Children′s Hospital of Zhengzhou University from February 2018 to June 2022 were analyzed. The second-generation sequencing method was used to sequence the HPDL gene and the first-generation Sanger sequencing was used to verify the family members, and the characteristics of gene variants were summarized, and the 3 cases were treateds and followed-up. Results:Among the 3 children with neurodevelopmental disorders, 2 were females and 1 was male, and the age of onset was 25 days to 11 years of birth. In the clinical phenotypes, cases 1 and 2 were children with Leigh-like syndrome with infancy onset, with recurrent seizures, intelligent backwardness, language and motor delay, lactic acid increase, acidosis. Cranial magnetic resonance plain scan suggested deepening of the sulcus in the bilateral cerebral hemisphere, abnormal symmetrical signals in the basal ganglia, dorsal thalamus, cerebral peduncles and brainstem, expansion of the supratentorial ventricle, and thinning of the corpus callosum. And cranial magnetic resonance spectroscopy suggested visible lactate peaks in the measurement area of bilateral putamen lesions. Case 3 presented with spastic paraplegia, early motor retardation, and late spastic gait. The plain skull magnetic resonance imaging scan showed no abnormalities. In the 3 cases, the whole exon genome sequencing showed the heterozygous variant c.26_.28delGCC(p.Cys9_His10delinsTyr) and the parent missense heterozygous variant c.788C>T(p.Thr263Met), the paternal truncated variant c.1051C>T(p.Gln351 *) and the parent frameshift variant c.995de1C(p.Thr332Mfs * 9), the parent missense variant c.781C>G (p.Leu261Val) and the parent truncated variant c.721C>T (p.Gln241 *). The c.26_28delGCC(p.Cys9_His10delinsTyr) was an unreported site mutation. No abnormalities were found in chromosomal copy number variation and mitochondria-related genes. Cases 1 and 2 were treated with anti-seizure drugs and cocktail, and the seizure was under effective control; case 3 was treated with comprehensive treatment and rehabilitation function training, and exercise and intelligence were improved. Conclusions:The clinical phenotype of the biallelic variant in HPDL was Leigh-like syndrome and hereditary spastic paraplegia, characterized by compound heterozygous variant, including whole code, missense, frameshift, and truncated variants. Biallelic variation in HPDL was found to be the genetic etiology of the 3 probands.
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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.
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Objective:To investigate the incidence and treatment of gastric cancer in 16 medical centers in Tianjin from 2020 to 2021.Methods:The retrospective and descriptive study was conducted. The clinical data of 3 122 gastric cancer patients who underwent surgery in 16 medical centers, including Tianjin Medical University Cancer Institute & Hospital, et al, in Tianjin from 2020 to 2021 were collected. There were 2 112 males and 1 010 females, aged (64±11)years. Observation indicators: (1) general data of patients; (2) treatment situations; (3) postoperative complications. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range). Count data were descri-bed as absolute numbers or percentages, and comparison between groups was conducted by the chi-square test. Results:(1) General data of patients. From 2020 to 2021, a total of 3 122 gastric cancer patients received surgeries in 16 medical centers in Tianjin, including 2 112 males and 1 010 females. There were 1 443 cases in 2020, including 976 males and 467 females, aged (63±11) years. There were 1 679 cases in 2021, including 1 136 males and 543 females, aged (65±11) years. Of the 3 122 pati-ents, cases in stage Ⅰ, Ⅱ, Ⅲ, Ⅳ were 696, 667, 1 466, 293, accounting for 22.293%(696/3 122), 21.365%(667/3 122), 46.957%(1 466/3 122), 9.385%(293/3 122), respectively. Cases with early gastric cancer, locally advanced gastric cancer, advanced gastric cancer account for 17.265%(539/3 122), 73.350%(2 290/3 122), 9.385%(293/3 122). There were 2 829 patients without distant metastasis and 293 patients with distant metastasis. For the 2 829 patients without distant metas-tasis, cases in stage T1, T2, T3, T4a, T4b accounted for 19.053%(539/2 829), 12.089%(342/2 829), 20.148%(570/2 829), 41.499%(1 174/2 829), 7.211%(204/2 829)respectively, cases in stage N0, N1, N2, N3 account for 37.328%(1 056/2 829), 16.331%(462/2 829), 15.836%(448/2 829), 30.505%(863/2 829). For the 293 advanced gastric cancer patients with distant metastasis, 190 cases had peri-toneal metastasis, 47 cases had lymph node metastasis, 27 cases had ovarian metastasis, 37 cases had liver metastasis, 14 cases had other metastasis (some patients had ≥2 distant metastases). (2) Treatment situations. ① For the 539 with early gastric cancer, cases undergoing endoscopic submu-cosal dissection, laparoscopic surgery, open surgery were 22, 150, 86 in 2020, versus 19, 212, 50 in 2021, showing a significant difference between them ( χ2=19.42, P<0.05). For the 498 patients with early gastric cancer who underwent laparoscopic or open surgery, cases undergoing open surgery including total gastrectomy, distal gastrectomy, proximal gastrectomy were 25, 81, 30, and cases undergoing laparoscopic surgery including total gastrectomy, distal gastrectomy, proximal gastrec-tomy were 18, 309, 35, respectively, showing a significant difference between them ( χ2=40.62, P<0.05). For the 2 290 patients with locally advanced gastric cancer, cases undergoing open surgery and laparoscopic surgery were 446 and 617 in 2020, versus 410 and 817 in 2021, showing a significant difference between them ( χ2=17.75, P<0.05). For the 2 290 patients with locally advanced gastric cancer, cases undergoing open surgery including total gastrectomy, distal gastrectomy, proxi-mal gastrectomy were 336, 377, 143, and cases undergoing laparoscopic surgery including total gastrectomy, distal gastrectomy, proximal gastrectomy were 377, 920, 137, respectively, showing a significant difference between them ( χ2=89.64, P<0.05). Of the 293 patients with advanced gastric cancer, 175 cases underwent surgeries due to hemorrhage, stenosis, perforation, 76 cases under-went surgery after chemotherapy, 42 cases underwent surgery directly. ② For 756 cases of 3 122 pati-ents undergoing total gastrectomy, 357 and 4 cases received open digestive tract reconstruction including Roux-en-Y and other anastomosis, versus 380 and 15 cases with laparoscopic digestive tract reconstruction including Roux-en-Y and other anastomosis, showing a significant difference between them ( χ2=5.57, P<0.05). For 1 687 cases undergoing distal gastrectomy, 84, 160, 158, 55 cases received open digestive tract reconstruction including Billroth Ⅰ anastomosis, Billroth Ⅱ + Braun anastomosis, Roux-en-Y anastomosis, uncut Roux-en-Y anastomosis, versus 154, 489, 417, 170 cases with laparoscopic digestive tract reconstruction including Billroth Ⅰ anastomosis, Billroth Ⅱ + Braun anastomosis, Roux-en-Y anastomosis, uncut Roux-en-Y anastomosis, showing a significant difference between them ( χ2=10.90, P<0.05) . Of the 539 patients with early gastric cancer, 65 cases had lymph node metastasis, in which 18 of 306 stage T1a cases had lymph node metastasis and 47 of 233 stage T1b cases had lymph node metastasis. The number of detected lymph nodes for the 2 290 patients with advanced gastric cancer was 31±15, including ≥16 for 2 059 cases and ≥30 for 1 276 cases. Of the 3 122 patients, cases with neoadjuvant therapy, complete response and incomplete response was 128, 13 and 115 in 2020, versus 250, 49 and 201 in 2021, showing a significant difference between them ( χ2=5.51, P<0.05). (3) Postoperative complications. Of the 3 122 patients, 746 cases had postoperative complications, with an incidence of 23.895%(746/3 122). There were 62 patients with grade 3 or more complications. Reoperation was conducted in 34 patients. There were 14 cases of postoperative death. The duration of postoperative hospital stay and hospital expense were (11±5)days and (98 114±46 598)yuan for the 3 122 patients, (26±14)days and (122 066±68 317)yuan for cases with complications, (40±21)days and (196 926±12 747)yuan for cases with grade 3 or more complications. Conclusion:Compared with 2020, cases undergoing laparoscopic surgery and distal gastrectomy for gastric cancer in Tianjin increases in 2021, and the digestive tract reconstruction also differs. The number of patients with neoadjuvant chemotherapy and complete response rate for advanced gastric cancer increases.
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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.
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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.
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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.
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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.
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Variações do Número de Cópias de DNA , Heterozigoto , Linhagem , Fenótipo , Splicing de RNA , MutaçãoRESUMO
BACKGROUND@#Lung adenocarcinoma (LUAD) is the most common type of non-small cell lung cancer, and any change of miRNAs expression will affect the degree of target regulation, thus affecting intracellular homeostasis. This study verified that miR-186-5p could inhibit the proliferation, migration and invasion of LUAD cells by regulating PRKAA2.@*METHODS@#Previous investigations found that the expression of miR-186-5p was markedly suppressed in LUAD. Bioinformatics method is used to predict the target protein related to ferroptosis downstream and inquire about its expression level in LUAD and its influence on the survival of patients. Double luciferase verified the binding site of PRKAA2 and miR-186-5p. Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot were used to detect the expression of PRKAA2. The effects of miR-186-5p of LUAD cells as well as the mechanism by which miR-186-5p inhibits Fer-1's sensitivity to ferroptosis were confirmed by EdU, Transwell, and scratch assays. The effect of miR-186-5p on the amount of reactive oxygen species (ROS) in LUAD cells was discovered using ROS experiment. Malondialdehyde (MDA) and glutathione (GSH) experiments were used to detect the effects of miR-186-5p and PRKAA2 on ferroptosis index of LUAD cells. The concentration of lipid ROS (L-ROS) in LUAD cells were measured using the L-ROS tests to determine the effects of miR-186-5p and PRKAA2.@*RESULTS@#The expression of PRKAA2 is up-regulated, and a high level of PRKAA2 expression was associated with a poor prognosis for patients with LUAD. Overexpression of miR-186-5p decreased the gene and protein expression of PRKAA2. By promoting ferroptosis, miR-186-5p overexpression prevented lung cancer cells from proliferating, invading, and migrating. ROS could be produced in higher amounts in LUAD cells due to miR-186-5p. Overexpression of miR-186-5p and knockdown PRKAA2 up-regulated MDA content and reduced GSH content in LUAD cells, respectively. miR-186-5p could increase the content of L-ROS and promote the ferroptosis sensitivity of LUAD cells by targeting PRKAA2.@*CONCLUSIONS@#miR-186-5p promotes ferroptosis of LUAD cells through targeted regulation of PRKAA2, thus inhibiting the proliferation, invasion and migration of LUAD. .
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Humanos , Neoplasias Pulmonares/genética , Carcinoma Pulmonar de Células não Pequenas , Ferroptose/genética , Espécies Reativas de Oxigênio , Adenocarcinoma de Pulmão/genética , MicroRNAs/genética , 3,4-Metilenodioxianfetamina , Proliferação de Células/genética , Movimento Celular/genética , Regulação Neoplásica da Expressão Gênica , Linhagem Celular Tumoral , Proteínas Quinases Ativadas por AMPRESUMO
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.
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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.
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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.
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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.
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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.
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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.
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Criança , Humanos , Masculino , Variações do Número de Cópias de DNA , Displasia Ectodérmica , Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , FenótipoRESUMO
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.
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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.
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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.
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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.
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Objective:To summarize the clinical features and genetic etiology of tuberous sclerosis (TSC).Methods:A retrospective analysis was carried out to identify the clinical features and auxiliary examination reults of TSC patients in 2 pedigrees admitted to our hospital from January 2018 to April 2018. Whole exome sequencing was performed in peripheral blood samples from these patients and the mutations in their parents were validated by Sanger sequencing.Results:The two probands were a one-year and 7-month old girl and a 2-year and 4-month old boy. They were all normal at birth and had epileptic seizures at preschool age. The elder sister, younger sister and mother of the probands showed abnormal skin and no seizures, and the father had normal phenotype. Physical examination showed normal mental and motor development, facial angiofibroma and depigmentation spots on the skin, knots and shark-like spots on part of the skin, and multiple intracranial calcification shadows on head CT; MR imaging revealed multiple abnormal signals under the parenchymal cortex and bilateral lateral ventricles. The proband (1) and her sister carried heterozygous missense mutation c.5024 c >T(p.pro1675leu) in TSC2 gene; ultrasound of heart, liver and kidney showed presence of hamartoma and cystic scotoma in renal parenchyma. The proband (2) and his younger sister carried heterozygosous splicing variation c. 737+1(IVS8)G>A in TSC1 gene, inherited from his mother; the head CT of younger sister was normal, and there was no hamartoma in the younger sister and the mother's internal organs. Conclusions:TSC is characterized by epileptic seizures and abnormal skin changes in preschool age. It may involve multiple hamartomas of skull, heart, liver, kidney, or other internal organs. The mutation frequency of TSC2 gene is higher than that of TSC1 gene, and the clinical phenotype is severe.