Objective To investigate the regularity of thoraco-abdominal two-field lymphatic metastasis and methods of the nodal dissection in middle-third thoracic esophageal carcinoma,and to guide the scope of the lymph-node clearance.Methods Thoraco-abdominal two-field lymph-node dissection based on surgical incisions of the right chest and middle upper abdomen were conducted in 62 cases with middle-third thoracic esophageal cancer and the regularity of nodal metastasis was analyzed.Results Five hundred and five pieces of lymph node were cleaned in all 62 patients and among them 102 pieces were detected as metastasis lymph node,the nodal metastasis ratio was 20.2％ (102/505).The middle-third thoracic esophageal cancer not only includes the nodal metastases up to the trachea of the right neck,around the bilateral recurrent laryngeal nerve chains,near the esophagus and the tumor,and the lymph-node metastasis at the inferior tracheal protuberance,but also the nodal metastases down to the cardiac,around the left gastric artery and at the retina of the lesser curvature of the stomach etc,presenting a tendency of 2-way metastasis.The infiltration depth and differentiation of the tumor is of statistical significance on the nodal metastasis ratio.There was significant difference on the metastasis rate of lymph node from T1 to T4 (T1:10.0％ (1/10),T2:20.0％ (3/15),T3:43.3 ％ (13/30),T4:57.1％ (4/7),x2 =18.56,P ＜ 0.05).It indicated that metastasis rate was increased with the development of the infiltration depth.There was significant difference on the metastasis rate of high differentiation carcinoma,moderate differentiation carcinoma and low differentiation carcinoma (14.3％ (2/14) vs 39.5％ (15/38) vs 57.1％(4/7),x2 =17.75,P ＜ 0.05).Conclusion The lymph node metastasis of patients with middle-third thoracic esophageal carcinoma is significantly correlated with the depth of tumor invasion and the degree of differentiation,with the tendency of thoraco-abdominal 2-field nodal metastasis.The peritracheal lymph node at right neck and bilateral recurrent laryngeal nerve chains are important regions of the metastasis.The surgical incision of the right thorax and upper abdomen greatly facilitates the excision of the middle-third thoracic esophageal cancer and the 2-field lymph node dissection Thus on this basis,the lymph node clearance around the right trachea and at bilateral recurrent laryngeal nerve chains through the right thoracic apex is safe and feasible.

BACKGROUND:There is evidence that internal fixation through an anterior or posterior approach for treatment of severe kyphotic deformity in spinal tuberculosis exhibits good curative effects. However, few prospective, long-term fol ow-up case control studies are reported. OBJECTIVE:To investigate the efficacy and safety of cobalt al oy pedicle screw implantation for treatment of severe kyphotic deformity in spinal tuberculosis. METHODS/DESIGN:This is a prospective, single-center, self-control, open-label trial, which wil be performed at the Affiliated Hospital of Hebei University, China. Eighty-four patients with severe kyphotic deformity in spinal tuberculosis wil be included according to the diagnosis criteria. Among 52 patients with tuberculosis of the thoracic spine, 28 wil undergo surgery through a posterior approach, and 24 through an anterior approach. According to the Frankel Grade classification, grade C, D and E spinal cord function wil be assessed in 8, 31 and 13 patients, respectively. Surgery through a posterior and anterior approach wil be respectively performed in half of 32 patients with tuberculosis of the lumbar spine. Grade C, D and E spinal cord function wil be assessed in 7, 14 and 11 patients, respectively. The primary outcome measure of this study wil be the Cobb angle at the thoracic spine segments before and 2 years after surgery, which wil be used to evaluate the angle of the spine curvature at the thoracic segments. The secondary outcome measures wil be X-ray scan or MRI findings before and 2 years after surgery, which wil be used to evaluate vertebral fusion after internal fixation;and Frankel Grade before and 2 years after surgery, which wil be used to evaluate recovery of spinal cord function after injury. Other outcome measures wil include multiple logistic regression analysis results of the factors that influence patient's curative effects and the incidence of adverse events 2 years after surgery. The trial protocol has been approved by the Ethics Committee, Affiliated Hospital of Hebei University, China and wil be performed in strict accordance with the Declaration of Helsinki, formulated by the World Medical Association. Signed informed consent regarding the trial protocol wil be obtained from each participant. DISCUSSION:This study is to validate that cobalt al oy pedicle screw implantation shows precise curative effects in the treatment of severe kyphotic deformity in spinal tuberculosis and to analyze through what approach, posterior or anterior, internal fixation wil be more beneficial to surgery performance. The outcomes of this study wil provide objective long-term fol ow-up evidence for internal fixation treatment of severe kyphotic deformity in spinal tuberculosis in the clinic.

BACKGROUND: During the repair of thoracolumbar fracture, pedicle screw fixation is a commonly used treatment method. In the process of fixation, the different approaches can be used. OBJECTIVE: To compare effect and biocompatibility of pedicle screw by percutaneous approach, posterior median approach, and intervertebral space approach for thoracolumbar fracture. METHODS: 118 cases of thoracolumbar fracture were included after pedicle screw fixation. Al patients were divided into three groups according to the approach: posterior median approach group (38 cases), intervertebral space approach group (40 cases) and percutaneous approach group (40 cases). After 12 months of folow-up, perioperative conditions, pain score, vertebral height of anterior border, kyphosis correction effect, adverse events and biological compatibility were compared among three groups. RESULTS AND CONCLUSION:(1) Operation time, intraoperative bleeding and time in bed after surgery were shorter or less in the percutaneous approach and intervertebral space approach groups than in the posterior median approach group. Postoperative drainage was better in percutaneous approach and intervertebral space approach groups than in the posterior median approach group (alP < 0.05). Except drainage in the percutaneous approach and intervertebral space approach groups, no significant difference in other indicators was found. (2) Patients received imaging examination at different time points. The percentage of anterior vertebral height and kyphosis were significantly improved immediately after treatment and in final folow-up (alP < 0.05). No significant difference was detected before treatment, immediately after treatment and in final folow-up. (3) Visual Analogue score was identical before treatment. Visual analogue score was lower in the percutaneous approach and intervertebral space approach groups than in the posterior median approach group at 24 hours and 3 days after treatment and in final folow-up (alP < 0.05). No significant difference was detectable at 24 hours and 3 days after treatment and in final folow-up between the percutaneous approach and intervertebral space approach groups. (4) No rejection or wound non-healing was seen at 12 months after treatment. Some patients suffered from mild low back pain, which was improved by active symptomatic treatment. (5) These findings suggest that intervertebral space approach percutaneous approach obtained satisfactory outcomes compared with posterior median approach for treatment of thoracolumbar spine fractures, and good biocompatibility was found.

Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

OBJECTIVE To establish the specific chromatogram of Qianghuo Shengshi Tang(QHSS) reference sample, clarify the key quality attributes of QHSS, providing reference for the quality evaluation of QHSS reference sample. METHODS The SilGreen C18 column(4.6 mm×250 mm, 5 μm) was used. The mobile phase consisted acetonitrile and 0.2% formic acid aqueous solution. The detection wavelength was 328 nm. Established an HPLC characteristic spectrum analysis method for the reference sample of QHSS. A variety of chromatographic columns and different instruments were applied to investigate the adaptability of the system. HPLC-LTQ-Orbitrap MS was used to identify the specific peaks of the QHSS reference samples in positive ion mode. RESULTS There were 14 peaks in the specific chromatogram, which belonged to Notopterygii Rhizoma Et Radix, Angelicae Pubescentis Radix, Ligustici Rhizoma Et Radix, Chuanxiong Rhizome, Viticis Fructus, respectively. Ferulic acid(peak 3) was reference peak. A total of 22 compounds were identified by mass spectrometry, including coumarin and flavonoids. CONCLUSION The established specific chromatogram method of QHSS is simple, stable and reproducible. The material basis of QHSS reference sample is basically determined, providing a reference for the development and quality control of QHSS.

OBJECTIVETo analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.

METHODComprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood. And variations were investigated by sequencing the PCR product. The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene.

RESULTThe patient was a 2 years and 4 monthes old boy. He presented with muscle hypotonia and weakness for one year, and experienced recurrent episodes of unstable head control, unable to sit by himself or stand without support, with persistently hyperlactacidemia. Metabolic testing revealed blood lactate 5.37 mmol/L, pyruvate 0.44 mmol/L, and lactate/pyruvate ratio was 12.23. MRI of the brain showed hyperintense signals on the T2 and T2 Flair weighted images in the basal ganglia bilaterally. Sequence analysis of PDHA1 gene showed a G>A point mutation at nucleotide 778, resulting in a substitution of glutarnine for arginine at position 263 (R263Q). And the diagnosis of pyruvate dehydrogenase complex deficiency was identified. By giving the therapy with ketogenic diet, vitamin B(1), coenzyme Q(10) and L-carnitine , the boy was in a stable condition.

CONCLUSIONThe severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied. Sequence analysis of PDHA1 gene revealed a 788G>A (R263Q) mutation. Patients who presented with unexplained muscle hypotonia, weakness and hyperlactacidemia could be diveded by gene analysis. And appropriate treatment can improve the quality of life.

Brain ; Carnitine ; Child, Preschool ; Exons ; genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation ; Phenotype ; Pyruvate Dehydrogenase (Lipoamide) ; genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease ; diagnosis ; genetics ; Pyruvic Acid