Klinefelter syndrome with partial androgen insensitivity syndrome: a case report and literature review / 中华实用儿科临床杂志

The clinical data of a patient with Klinefelter syndrome (KS) complicated by partial androgen insensitivity syndrome (PAIS) was retrospectively analyzed.The patient, a 2-month-and-22-day-old baby, was admitted to Children′s Hospital Affiliated to Zhengzhou University due to abnormal external genitalia in October 2021.Upon birth, the patient exhibited abnormal external genitalia, manifested as clitoral hypertrophy.Hormonal examinations were consistent with those of peers, while chromosomal analysis revealed 47, XXY.Due to the severe undermasculinization, whole exome sequencing was conducted, indicating a heterozygous variant of the AR gene (c.1847G>A, p.Arg616His). The patient was diagnosed with PAIS, and her elder sister was diagnosed with complete androgen insensitivity syndrome.For further treatment, a multidisciplinary comprehensive evaluation is needed.This is a rare case of KS combined with PAIS, suggesting the possibility of AR gene mutations in KS children with severe undermasculinization.

X-linked hypophosphatemic rickets treated with Burosumab in early childhood: A case study with 18-month follow up / 中华内分泌代谢杂志

Objective:To retrospectively analyze a pediatric case of X-linked hypophosphatemic rickets treated with Burosumab and improve clinicians′ awareness of the safety and effectiveness of the drug.Methods:Clinical data of the child were collected. Whole-exon genetic testing after parental consent confirmed X-linked hypophosphatemic rickets. During 18 months of Burosumab treatment, fasting blood phosphorus, alkaline phosphate, calcium, and calcium phosphate product were monitored every 11-14 days. Parathyroid hormone and 25 hydroxyvitamin D were checked every 2-6 weeks, while knee spacing, liver and kidney function, urinary calcium creatinine ratio, electrocardiogram were assessed every 3 months. Radiological imaging was performed every 6 months, with continuous follow-up of the child.Results:Whole-exon sequencing results showed a c. 1080_1081insCAATGTTA(p.T361Qfs*3) spontaneous heterozygous frameshift mutation in the PHEX gene in the child, which has not been reported previously. After the patient was treated with Burosumab for 18 months, the biochemical indexes were significantly improved, and the rickets score was reduced, without gingival abscess or other adverse events.Conclusion:The variant c. 1080_1081insCAATGTTA(p.T361Qfs*3) in the PHEX gene was identified as the cause of the patient′s condition. Burosumab, as a targeted therapeutic agent for X-linked hypophosphatemic rickets, showed significant treatment efficacy.

Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene / 中华医学遗传学杂志

OBJECTIVE@#To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene.@*METHODS@#Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed.@*RESULTS@#Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously.@*CONCLUSION@#FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.

Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study / 中华内分泌代谢杂志

Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.

Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze a child with 11β hydroxylase deficiency (11β-OHD) due to CYP11B2/CYP11B1 chimeric gene.@*METHODS@#Clinical data of the child who was admitted to Henan Children's Hospital on August 24, 2020 were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RT-PCR and Long-PCR were carried out to verify the presence of chimeric gene.@*RESULTS@#The patient, a 5-year-old male, had featured premature development of secondary sex characteristics and accelerated growth, and was diagnosed with 21 hydroxylase deficiency (21-OHD). WES revealed that he has harbored a heterozygous c.1385T>C (p.L462P) variant of the CYP11B1 gene, in addition to a 37.02 kb deletion on 8q24.3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1385T>C (p.L462P) was rated as a likely pathogenic variant (PM2_Supporting+PP3_Moderate+PM3+PP4). The results of RT-PCR and Long-PCR suggested that CYP11B1 and CYP11B2 genes have recombined to form a CYP11B2 exon 1~7/CYP11B1 exon 7~9 chimeric gene. The patient was diagnosed as 11β-OHD and effectively treated with hydrocortisone and triptorelin. A healthy fetus was delivered following genetic counseling and prenatal diagnosis.@*CONCLUSION@#11β-OHD may be misdiagnosed as 21-OHD due to the potential CYP11B2/CYP11B1 chimeric gene, which will require multiple methods for the detection.

Coaxial catheter technique in carotid artery stenting implantation via radial artery approach:its effectiveness and safety / 介入放射学杂志

Objective To investigate the effectiveness and safety of coaxial catheter technique in carotid artery stent implantation via radial artery approach.Methods The general and clinical data of patients,who underwent carotid artery stent implantation via radial artery approach at the Department of Neurology,Daxing Teaching Hospital of Capital Medical University of China between January 2021 and October 2022,were retrospectively analyzed.During the operation,coaxial catheter technology was used to make a 6F catheter inserting into the target vessel for performing carotid stent implantation,and the rate of successful catheter placement,surgical success rate,and perioperative complications were analyzed.Results A total of 40 patients,who underwent carotid artery stent implantation via radial artery approach,were enrolled in this study.The involved vessels included left internal carotid artery(n=16),right internal carotid artery(n=24),type Ⅰaortic arch(n=13),type Ⅱ aortic arch(n=20),type Ⅲ aortic arch(n=7),and bovine aortic arch(n=1).The rate of successful catheter placement was 100％,the surgical success rate was 95％,and no procedure-related complications occurred.The time spent on surgery was(34.4±13.6)min.No patients developed symptoms of cerebral infarction or myocardial infarction in 30 days after the operation.Conclusion The use of coaxial catheter technology can make the catheter inserting into the target vessel quickly and avoid repeated catheter exchange.Coaxial catheter technology is safe and effective in performing carotid artery stent implantation via radial artery approach.(J Intervent Radiol,2023,32:1169-1173)

The expression level of SKP2 gene affects the radiosensitivity in hepatocellular carcinoma cells / 中华放射肿瘤学杂志

Objective:To investigate the effect of S-phase kinase-associated protein 2 (SKP2) expression level on radiosensitivity of human hepatocellular carcinoma (HCC) cells and the correlation of SKP2 expression with clinical prognosis of patients with HCC.Methods:The expression levels of SKP2 gene in liver cancer tissues and normal tissues were validated and its correlation with clinical prognosis of HCC patients was analyzed based on the TCGA database. Western blot was used to determine the SKP2 protein levels in HCC cell lines before and after radiation. CRISPR/Cas9 technology was employed to delete the promoter and first exon of SKP2 gene in PLC/PRF/5 (PLC) and Hep3B HCC cells for generating the SKP2 knockout cell lines. The difference of radiosensitivity and cell survival rate between normal (SKP2 +/ +) and SKP2 knockout (SKP2 -/ -) HCC cells was determined by using cell clonogenic assay and CCK8 kit. Results:Compared with normal tissues, the expression levels of SKP2 gene in HCC were increased based on the results of TCGA database analysis. K-M analysis showed that the HCC patients with high SKP2 expression had relatively poor prognosis. The 5-year overall survival (OS) was 34.6% in high SKP2 expression HCC patients and 50.6% in low SKP2 expression HCC patients, respectively ( HR=2.18, 95% CI=1.46-3.27, P<0.001). In vitro experiment showed that the expression levels of SKP2 were significantly increased after radiation in HCC cells. Simultaneously, deletion of SKP2 significantly increased the radiosensitivity of HCC cells. Conclusion:The expression level of SKP2 gene is increased in HCC patients, and patients with high SKP2 expression have worse prognosis than those with low expression. Radiation can upregulate the SKP2 expression levels in HCC cells, while the radiosensitivity of the cells is significantly increased after SKP2 deletion.

Modelling the difference of circulating lymphocytes between conventional fractionation radiotherapy and stereotactic body radiation therapy for lung cancer based on convolution operation / 中华放射肿瘤学杂志

Objective:To evaluate the difference between conventional fractionation radiotherapy (CRT) and stereotactic body radiation therapy (SBRT) in lung cancer.Methods:A model was constructed based on convolution operation and finite element method, simulating the dose delivered to circulating lymphocytes (CL) in radiotherapy. The model was trained on a training group ( n=3) and validated in an independent validation group between SBRT ( n=10) and CRT ( n=10). The peak cumulative dose of circulating lymphocyte (PCDC) was compared between the two schemes, and the effect of different PTV volumes and treatment time on the cumulative dose was also analyzed. The correlation between PCDC and CL change value was discussed. Results:In the training group, PCDC with CRT to CL were 1.26 Gy,1.79 Gy, 2.54 Gy in PTV of 38 cm 3, 63 cm 3 and 114 cm 3, and PCDC with SBRT to CL were 0.84 Gy, 1.22 Gy, 1.55 Gy in PTV of 38 cm 3, 63 cm 3, 114 cm 3, respectively. PCDC gap of SBRT to CL was decreased by 0.42 Gy, 0.57 Gy, 0.99 Gy, respectively. In the validation group, the lymphocyte change value in SBRT and CRT were (1.10±0.64)×10 9/L and (0.42±0.48)×10 9/L, and there was significant difference ( P=0.015). PCDC in SBRT and CRT were 3.56 (2.79, 3.82) Gy and 1.24 (0.697, 1.73) Gy, and there was significant difference ( P<0.001). There was a positive correlation between lymphocyte change value and PCDC ( r=0.455, P<0.05). Conclusions:SBRT, compared to CRT, will lead to lower PCDC and CL lymphocyte change value, which may cause a greater impact on the difference of PCDC along with the enlargement of PTV. CRT and large PTV volume may cause more significant effect upon the body immune function.

Clinical and radiological features of patients with hypoplasia of the internal carotid artery / 中华神经医学杂志

Objective:To analyze the clinical and radiological features of patients with hypoplasia of the internal carotid artery.Methods:Four patients with hypoplasia of the internal carotid artery (including 3 patients with congenital absence of the internal carotid artery), admitted to our hospital from January 2010 to December 2021, were chosen in our study. The clinical data and imaging features of these patients were retrospectively analyzed.Results:The age of these patients ranged from 31 to 73 years, and two patients were female. Clinically,2 patients presented with dizziness, 1 patient presented with limb weakness, and 1 patient was asymptomatic. In 3 patients with congenital absence of the internal carotid artery, DSA results showed that the internal carotid artery was not developed, and CT bone window showed that the internal carotid artery canal was absent; 1 patient with hypoplasia of the internal carotid artery showed thin imaging in DSA results. One patient was combined with anterior communicating artery aneurysm and left internal carotid artery aneurysm. One patient was with vertebral arterial dolichoectasia. The collateral circulation compensation: type A was noted in 3 patients and type C was noted in 1 patient.Conclusion:The patients with hypoplasia of the internal carotid artery are usually asymptomatic, and patients with congenital absence of the internal carotid artery can have ischemic symptom; these patients can be complicated with vascular abnormalities such as aneurysm and vascular thickening.

Clinical and radiological features of patients with hypoplasia of the internal carotid artery / 中华神经医学杂志

Objective:To analyze the clinical and radiological features of patients with hypoplasia of the internal carotid artery.Methods:Four patients with hypoplasia of the internal carotid artery (including 3 patients with congenital absence of the internal carotid artery), admitted to our hospital from January 2010 to December 2021, were chosen in our study. The clinical data and imaging features of these patients were retrospectively analyzed.Results:The age of these patients ranged from 31 to 73 years, and two patients were female. Clinically,2 patients presented with dizziness, 1 patient presented with limb weakness, and 1 patient was asymptomatic. In 3 patients with congenital absence of the internal carotid artery, DSA results showed that the internal carotid artery was not developed, and CT bone window showed that the internal carotid artery canal was absent; 1 patient with hypoplasia of the internal carotid artery showed thin imaging in DSA results. One patient was combined with anterior communicating artery aneurysm and left internal carotid artery aneurysm. One patient was with vertebral arterial dolichoectasia. The collateral circulation compensation: type A was noted in 3 patients and type C was noted in 1 patient.Conclusion:The patients with hypoplasia of the internal carotid artery are usually asymptomatic, and patients with congenital absence of the internal carotid artery can have ischemic symptom; these patients can be complicated with vascular abnormalities such as aneurysm and vascular thickening.

Effects of triptolide on radiosensitization of lung cancer A549 cells / 中国基层医药

Objective:To investigate the effects of triptolide on radiosensitization of lung cancer A549 cells and the underlying mechanism.Methods:During June-September 2019, lung cancer A549 cells were treated with different concentrations of triptolide for 24 and 48 hours in Animal Experiment Center, Zhejiang Chinese Medical University, China. The inhibitory effects of triptolide on the proliferation of lung cancer A549 cells were determined using MTT method. Appropriate concentrations of triptolide and double distilled water were added to the experimental and control groups, respectively. The effects of triptolide on radiosensitization of lung cancer A549 cells was determined by colony formation assay. Radiosensitization ratio was calculated. Lung cancer A549 cells were divided into blank control, triptolide, radiotherapy, and radiotherapy + triptolide groups. The effects of triptolide on apoptosis and cell cycle of lung cancer A549 cells were determined by flow cytometry.Results:The 10% inhibitory concentration (IC 10) and half maximal inhibitory concentration (IC 50) of triptolide for treating lung cancer A549 cells were 36.61 nmol/L and 259.38 nmol/L, respectively at 24 hours, and they were 9.05 nmol/L and 61.49 nmol/L, respectively at 48 hours. Triptolide had an radiosensitization effect on lung cancer A549 cells, with the radiosensitization ratio of 1.135. The apoptosis rate in the radiotherapy + triptolide group was significantly higher than that in the radiotherapy [(45.47 ± 8.29)% vs. (5.25 ± 0.59)%, t = 6.847, P = 0.002]. The proportion of lung cancer A549 cells at the G2/M phase in the radiotherapy group was significantly higher than that in the radiotherapy + triptolide group [(27.82 ± 0.96)% vs. (11.98 ± 0.55)%, t = 20.176, P < 0.05]. The proportion of lung cancer A549 cells at the G2/M phase in the black group was significantly higher than that in the triptolide group [(17.31 ± 3.42)% vs. (8.05 ± 0.71)%, t = 3.749, P = 0.02]. Conclusion:Triptolide has a radiosensitization effect on lung cancer A549 cells, and the underlying mechanism may be related to its participation in cell apoptosis and cycle regulation.

Clinical and genetic analysis of an infant with aldosterone synthase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency.@*METHODS@#Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing.@*RESULTS@#The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product.@*CONCLUSION@#The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.

Clinical and molecular genetic characterizations of 7 children with X-linked adrenal hypoplasia congenita / 中华实用儿科临床杂志

Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant.Methods Seven children (from 7 families) with X-linked AHC who were admitted to the Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,from July 2012 to June 2017 were selected.All patients were screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on the X chromosome gene1 (DAX1/NR0B1) mutations.The clinical manifestation and laboratory examination were analyzed,their clinical characterizations were summarized.Results Seven patients were all male,the onset age of the patients were from after birth to 7 months old,and 4 patients (4 families) had a family history of X-linked recessive inheritance.The clinical manifestations were skin pigmentation [100.0％ (7/7 cases)],vomiting [71.4％ (5/7 cases)],no weight gain [57.1％ (4/7 cases)] and poor spirit [28.6％ (2/7 cases)].Laboratory tests showed that hyperkalemia and hyponatremia,increased coricotrophin,normal or decreased cortisol,17α-hydroxyprogesterone,progesterone,aldosterone and dehydroepiandrosterone.Testosterone levels increased in 5 patients.The abnormalities of adrenal glands imaging could be seen in 2 patients.Two patients were misdiagnosed as congenital adrenal cortical hyperplasia.Then the definitive diagnosis were made by genetic test.DAX1/ NR0B1 gene mutations were found in all patients.Five patients were novel mutations (c.114_126del,c.872G ＞ A,c.56delG,c.884T ＞ G,c.1217delG).Conclusions The clinical manifestations of X-linked AHC with infant onset include pigmentation,poor spirit and growth retardation,which should be differentiated from congenital adrenal cortical hyperplasia.Hormone levels such as elevated blood 17α-hydroxyprogesterone and family history are the main identification points,and AHC cannot be excluded when testosterone level increases.Five novel mutations are found in this study,which enrich the gene database.

Application of long guidewire exchange technique in cerebral angiography via radial artery access / 介入放射学杂志

Objective To investigate the efficacy and safety of long guidewire exchange technique in performing cerebral angiography via radial artery approach.Methods The clinical data of 257 patients,who received cerebral angiography during the period from June 2014 to May 2016 at Daxing Hospital of Capital Medical University,Beijing,China,were retrospectively analyzed.Among the 257 patients,186 had type Ⅱ or type Ⅲ aortic arch.According to the different looping technologies for Simmons-2 catheter used in the performance of cerebral angiography,these 186 patients were divided into the study group (n=90) and the routine group (n=96).The success rate of radial artery puncturing,the success rate of Simmons-2 catheter looping formation,the success rate of supra-arch arterial catheterization,the time spent for angiography,the radiation exposure time,complications,etc.were recorded.Results The success rate of radial artery puncturing was 100％ in both groups.The success rate of Simmons-2 catheter looping formation in the study group was 97.8％,which was significantly higher than 72.9％ in the routine group (P＜0.05).The success rates of catheterization for the left subclavian artery,left common carotid artery and right carotid artery in the study group were 97.8％,97.8％ and 97.8％ respectively,which were remarkably higher than 72.9％,72.9％ and 72.9％ respectively in the routine group (P＜0.05).No statistically significant difference in the success rates of catheterization for right subclavian artery and for right vertebral artery existed between the two groups (P＞ 0.05).The time spent for angiography in the study group and the routine group was (22.5±9.4) min and (28.3±8.3) min respectively.The radiation exposure time in the study group was (8.9±4.5) min,which was obviously lower than (12.6±6.5) min in the routine group (P=0.017 and P=0.035,respectively).The incidences of complications in the study group and the routine group were 4.4％ and 5.2％ respectively,the difference was not statistically significant (P＞0.05).No severe complications,such as intracranial arterial embolie events,puncture bleeding,arterial occlusion,etc.,occurred in all patients of both groups.Conclusion The use of long guidewire exchange technology can improve the success rate of Simmon-2 catheter looping formation and the success rate of supra-arch arterial catheterization,it can also shorten the time for angiography procedure and reduce the radiation exposure time.This technique is very effective with higher safety.Therefore,this long guidewire exchange technique should be used as a common method for cerebral angiopraphy via radial artery approach in patients with type Ⅱ or type Ⅲ aortic arch.

Clinical effect of preoperative neoadjuvant chemoradiotherapy plus esophagectomy in treatment of locally advanced esophageal cancer / 中华放射肿瘤学杂志

Objective To evaluate the tolerance of preoperative neoadjuvant chemoradiotherapy (neoCRT) plus esophagectomy, as well as the short-term outcome, tumor resection rate, incidence of postoperative complications, and perioperative mortality, in patients with locally advanced esophageal cancer.Methods This study included 74 patients with thoracic esophageal cancer who were admitted to our hospital from May 2011 to June 2015.Chemotherapy and radiotherapy were performed concurrently.The chemotherapy consisted of vinorelbine (25 mg/m2 on days 1, 8, 22, and 29) and cisplatin (25 mg/m2 on days 1-4 and 22-25).The radiotherapy was conventionally fractionated with a total dose of 40 Gy (2.0 Gy/d).At 4-8 weeks after chemoradiotherapy, esophagectomy was performed (neoCRT+surgery group);definitive chemoradiotherapy (DCRT) was performed in the patients who refused surgery (DCRT group);follow-up was performed in the patients who refused any anti-cancer therapies after neoCRT (neoCRT group).Results Forty-four patients underwent neoCRT+surgery, with a radical resection (R0) rate of 100% and a pathological complete response (pCR) rate of 43%;17 patients received DCRT;13 patients received neoCRT alone.For the neoCRT+surgery group, DCRT group, and neoCRT group, the 2-year overall survival (OS) rates were 79%, 75%, and 17%, respectively, and the 2-year disease-free survival (DSF) rates were 75%, 55%, and 17%, respectively.There were significant differences in OS between the neoCRT group and the neoCRT+surgery group (P=0.000) and between the neoCRT group and the DCRT group (P=0.001), but no significant difference was observed between the neoCRT+surgery group and the DCRT group (P=0.415).There were significant differences in DFS between the neoCRT group and the neoCRT+surgery group (P=0.000) and between the neoCRT group and the DCRT group (P=0.002), but no significant difference was observed between the neoCRT+surgery group and the DCRT group (P=0.416).The rate of clinical response to preoperative neoCRT was 87% for all patients.Fifty-six patients (76%) developed grade ≥3 myelosuppression due to preoperative neoCRT.The incidence rates of postoperative pulmonary infection, anastomotic leakage, and anastomotic stenosis were 21%, 12%, and 7%, respectively, and the perioperative mortality rate was 2%.Conclusions For patients with locally advanced esophageal cancer, preoperative neoCRT plus surgery can increase the clinical response rate and pCR rate, reduce the tumor stage, and improve the survival, but chemoradiotherapy toxicities and perioperative complications cannot be ignored.

Diagnostic value of cerebral vascular DSA in vertebral artery variation / 中华神经医学杂志

Objective To evaluate the diagnostic value of cerebral vascular DSA in vertebral artery variation,understand the types of vertebral artery variation and the imaging characteristics of vertebral artery variation.Methods Nine hundred and forty-six patients received cerebral vascular DSA in our hospital from October 2010 to May 2015 were chosen.DSA characteristics of patients with vertebral artery variations were analyzed and the vertebral artery variation types and incidence were conformed.Results There were 140 patients with vertebral artery variations.Sixteen patients (1.7％) was diagnosed with anomalous origin of vertebral artery,including 14 of left vertebral artery anomalous origin,2 of right vertebral artery anomalous origin.One patient (0.1％) had persistent trigeminal artery originated from the right internal carotid artery and one patient (0.1％) had proatlantal intersegrnental artery originated from the left external carotid artery.The vertebral artery of 10 patients (1％) was found with fenestration.The posterior inferior cerebellar artery of 25 patients (2.6％) was originated from the lower portion of extracranial location.Ninety-two patients (9.7％) were found with vertebral artery hypoplasia,including 54 with right vertebral artery hypoplasia and 38 with left vertebral artery hypoplasia.There were 12 patients with anastomosis abnormalities in the vertebral artery hypoplasia,including 4 with right vertebral artery anastomosis abnormalities,and 8 with left vertebral artery anastomosis abnormalities.Conclusion Cerebral vascular DSA can clearly show the location and shape of vertebral artery variation,and it is important in the clinical diagnosis and treatment of cerebrovascular disease,interventional treatment and posterior fossa surgery.

The NROB 1 gene missense mutation causes congenital adrenal dysplasia:a case report / 临床儿科杂志

Objective To explore the clinical feature and diagnosis of the X linked adrenal hypoplasia congenital (X-AHC). Methods The clinical data and gene detection results of one case of AHC were retrospectively analyzed. The related literatures were reviewed. Results Two-month-old male infant was suffered with slow weight gain, vomiting, and salt craving of adrenal insufifciency after birth. Gene detection found a new missense mutation on NROB 1 gene. The diagnosis of X-AHC was conifrmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB 1 gene detection.

Clinicopathological correlations of PHLPP expression in non-small cell lung cancer / 中国现代医生

Objective To investigate the expression of PHLPP in non-small cell lung cancer (NSCLC)and its correla-tions of clinicopathological characteristics. Methods All of 82 tissue specimens with NSCLC were examined with im-munohistochemical staining, and the results of IHC were analyzed with the clinicopathologic characteristics. Results PHLPP mainly expressed on the cell membrane. The rate of PHLPP expression was negative in 63%, poor in 11%, moderate in 10% and strong in 16%, respectively. The expression of PHLPP was significantly correlated with differen-tiation, but not with age, smoking states, pathological type and stage. Conclusion The positive expression rate of PHLPP is 37%in human NSCLC tissue specimens and was correlated with histological differentiation .

Clinical research of extensive regional field radiotherapy concurrent with chemotherapy for locally advanced esophageal cancer / 中华放射肿瘤学杂志

Objective To evaluate the efficacy and side effects of extensive regional field radiotherapy concurrent with chemotherapy for locally advanced esophageal cancer.Methods Of the 101 patients with locally advanced esophageal cancer patients,44 patients were treated by involved field radiotherapy alone,29 patients treated by involved field radiotherapy combined with chemotherapy,and 28 patients received extensive regional field radiotherapy combined with chemotherapy,the total dose of radiotherapy was 60 Gy.The clinical target volume (CTV) of involved field included the gross tumor volume (GTV) plus a 0.8 cm lateral margin,the tumor plus a nominal 3-5 cm cephalad and caudal margin.Extensive regional field radiotherapy was delivered in two steps:the CTV included the CTV of the involved field plus elective nodal region in the first step;in the second step,the CTV definition was same with the CTV of the involved field.Synchronous chemotherapy regimens included TP and NP.Results 90.1％patients completed planned radiotherapy,all patients in the concurrent chemotherapy groups completed at least one cycle of chemotherapy.The follow-up rate was 99％.Twenty-four and 42 patients completed followed-up more than 24 months in the radiotherapy alone and concurrent chemoradiotherapy group,respectively.The median survival time of the involved field radiotherapy group,involved field chemoradiotherapy group and extensive regional field chemoradiotherapy group was 13,21 and 19 months,respectively;the 2-year overall survival (OS) rate was 15％,48％ and 46％,respectively for the three groups.The 2-year OS rate was improved significantly in the chemoradiotherapy group (x2 =6.83,P =0.033).Compared with radiotherapy alone group,the incidence of grade three or four bone marrow suppression was higher in the concurrent chemoradiotherapy group (53％: 0 ％,x2 =32.94,P =0.000),the remaining adverse events (acute radiation pneumonitis,acute radiation esophagitis,esophageal fibrosis,late radiation lung injury) had no significant intergroup differences (x2 =5.56,6.70,2.39,0.42,P =0.235,0.349,0.881,0.981).Conclusions Compared with radiotherapy alone,concurrent chemoradiotherapy can improve the survival rate for locally advanced esophageal cancer.The side effects of the extensive regional field radiotherapy combined with chemotherapy is well tolerated.But the efficacy of the extensive regional field radiotherapy combined with chemotherapy needs further research.

Expression of proinsulin and insulin in insulinoma and normal pancreas / 中华胰腺病杂志

Objective To investigate the expression of proinsulin, insulin, C-peptide in insulinoma and normal pancreas and their roles. Methods Thirty-eight cases of insulinoma and 20 cases of normal pancreas from Sep. 2006 to Dec. 2009 in our hospital were selected. Immunohistochemistry was used to determine the expression of proinsulin, insulin, C-peptide. Results Proinsulin, insulin, C-peptide was expressed in insulinoma and normal pancreas. Proinsulin, C-peptide were strongly expressed in 100%insulinoma, while they were weekly expressed in 55% ～60% normal pancreas; insulin was expressed as + + +in 79% insulinoma, while it was expressed as + + + + in 85% normal pancreas. Proinsulin, C-peptide positive cell accounted for 80% ～ 100% of 38 insulinoma, and insulin positive cell accounted for 50% ～ 70%,the proinsulin/insulin ratio ＞ 1 accounted for 78.9%; while the corresponding values were 20% ～ 80%, 60% ～90%, 10.0% in normal pancreas, and the difference was statistically significant ( P ＜ 0.05 ). Conclusions The proinsulin/insulin ratio ＞ 1 is 78.9% in insulinoma, and detection of proinsulin may help to diagnose insulinoma.