Objective To investigate the multiple risk factors for lower extremity lymphedema in patients following treatment of common gynecologic cancers by meta-analysis for systematic analysis and comprehensive quantitative study.Methods Clinical trials published up until August 2016 were retrieved from PubMed, Embase, and the Cochrane Library.The quality of the included studies was assessed by the Newcastle-Ottawa Scale, and data analysis was performed using Stata 14.0 and RevMan 5.3.The strength of the associations between risk factors and gynecologic cancer-related lower extremity lymphedema was described as odds ratio (OR) and 95% confidence intervals (CI).Results Eighteen studies were included in the meta-analysis, and 8 relevant factors were identified.The risk factors for lower extremity lymphedema after treatment of gynecologic cancer mainly included radiotherapy (OR=2.45, 95%CI:2.05-2.95, P=0.000), FIGO stage (OR=2.29, 95%CI:1.66-3.14, P=0.000), and pelvic lymph node dissection (OR=2.00, 95%CI:1.02-3.91, P=0.040).Conclusions Radiotherapy, FIGO stage, and pelvic lymph node dissection are the main risk factors for lower extremity lymphedema after treatment of gynecologic cancers.

Electromagnetic Fields ; Magnetic Fields ; Microwaves ; adverse effects ; Television

Objective:To explore the clinical features of Stewart-Treves syndrome in postoperative patients of breast cancer.Methods:The clinical data of 11 patients with Stewart-Treves syndrome after breast cancer surgery in Beijing Shijitan Hospital from Aug 2008 to Sep 2016 were retrospectively analyzed.Results:All the 11 patients were female , age ranging from 44 to 78 years.The main clinical manifestations included multiple skin and subcutaneous nodules , scattered red or purplish red rashes in the lymphedematous upper limbs, and sometimes in the chest wall. MRI showed multiple short T2 signal soft tissue nodules in skin and subcutaneous soft tissue. Histopathology showed heterogeneous endothelial cell-derived malignant tumor. Immunohistochemical staining showed positive CD31, CD34 and D2-40. These 11 patients had skin and subcutaneous tumor excision and biopsy, 4 had shoulder amputation, 4 received postoperative adjuvant chemo plus or radiotherapy. As of Feb 2020, 1 patient was alive, 9 died and 1 lost follow-up.Conclusions:Stewart-Treves syndrome is a rare complication of breast cancer, with poor prognosis and high mortality.

[Summary] Microcephalic or Majewski's osteodysplastic primordial dwarfism type Ⅱ ( MOPD Ⅱ) is an extremely rare genetic disease mainly caused by pericentrin ( PCNT) gene mutations. This paper reported one 13-year-old boy, who was admitted because of the slow growth for more than 13 years and deepened skin color over six months. He was diagnosed as MOPD Ⅱ associated with a combination of growth hormone deficiency, type 2 diabetes, hypertension, acanthosis nigricans, multiple café-au-lait spots. On magnetic resonance imaging of brain, no vascular malformations such as aneurysms were shown. There were novel compound heterozygous mutations of PCNT gene in the patient, with the nonsense mutations of c. 502C > T ( p. Gln168 * heterozygous variation) and c. 3103C > T (p. Arg1035* heterozygous variation). His father carried a nonsense mutation c. 3103C > T ( p. Arg1035 *heterozygous variation ) and his mother had a nonsense mutation c. 502C > T ( p. Gln168 * heterozygous variation). After treatment with metformin for three months, his blood glucose returned to normal, and acanthosis nigricans was improved. It seems critical to evaluate the abnormal condition of blood vessels regularly for MOPD Ⅱpatients with PCNT gene mutations.

Objective To analyze the clinical characteristic of Chinese autoimmune pancreatitis (AIP) patients.Methods All clinical data of 81 patients with a diagnosis of AIP in Shanghai Changhai Hospital from February 2005 to May 2012 were analyzed.Results The sex ratio was 7.1∶1 and the mean age was (57± 12) years old in 81 patients with AIP.Obstructive jaundice was the initial symptom in 51.9％ (42/81) patients.In patient receiving CT,focal and diffuse type accounted for 45 and 35 patients.respectively,and pseudocyst was the main manifestation in 1 patient,biliary tract was involved in 59(72.8％ ) patients,dilatation of main pancreatic duct was observed in 5 ( 11.1％ ) patients.In patients receiving PET-CT,diffuse increased Flourine-18 FDG uptake by the pancreas was found in 11 patients,focal increased uptake in 2patients,and significant extra-pancreatic uptake was found in 5 patients.The positive rate of serum IgG4,CA19-9,ss DNA,anti-nuclear antibody and ds-DNA antibody was 94.6％ (53/81),54.4％ (37/68),14.3％ (4/28),10.7％ (3/28),7.1％ (2/28),respectively.The pathological findings of H-E staining and IgG4 immunohistochemical analysis in 20 patients were consistent with lymphoplasmacytic sclerosing pancreatitis.Conclusions Type 1 AIP is the main subtype of AIP in China.Combining clinical symptoms,extra-pancreatic manifestations,imaging or nuclear medicine findings,serology,cytology or histology can effectively increase the correct diagnosis rate of AIP.

Objective: To study the clinical effects of liposuction combined with lymphatico-venous anastomosis for treatment of secondary lymphedema of the lower limbs. Methods: A retrospective analysis was performed for 49 patients who had undergone liposuction combined with lymphatico-venous anastomosis to treat secondary lymphedema of the lower limbs at Department of Lymph Surgery, Beijing Shijitan Hospital from November 2013 to February 2015.All patients were female aging from 31 to 70 years with median age of (52±10)years.All patients had history of pelvic surgery.There were 32 cases with cervical carcinoma, 11 cases with endometrial cancer, 1 case with ovarian cancer who accepted radical hysterectomy, 2 cases with benign tumor who accepted resection, 2 cases accepted inguinal lymph node dissection, 1 case with rectal cancer accepted radical resection.There were 30 cases with history of radiation therapy and 23 cases with history of erysipelas recurrent((2.1±3.9)/year). The limb swelling degree in preoperative and postoperative patients was explored using one-way analysis of variance with replicate measures and paired sample t-test. Meanwhile the incidence of lymphogenous infection was used as an evaluation of operation efficacy. Results: The mean lower limb circumference difference at 7 days, 6 months and 12 months was (0.17±1.36)cm, (1.25±1.62)cm and(1.58±1.56)cm, respectively, which was significantly decreased compared with preoperative((4.92±2.16)cm) (t=-5.712, -5.777, -5.765; all P<0.01). The mean lower limb volume difference at 7 days, 6 months and 12 months was (522±799)ml, (726±973)ml and (889±895)ml, respectively, which was significantly decreased compared with preoperative((2 729±1 335) ml)(t=-5.905, -6.093, -5.777; all P<0.01). The incidence of erysipelas was 0.0(0.0, 0.0)/6 months within 6 months after operation and 0.0(0.0, 0.0)/6 months within 6-12 months after operation, which was significantly lower than that before operation(0.0(0.0, 2.0)/year). The feeling of tightness and heaviness of the limb was significantly improved compared with preoperative. Conclusion Liposuction combined with lymphatico-venous anastomosis is an effective method for the treatment of secondary lymphedema of the lower limbs.

Objective To analyze the clinical feature, diagnosis and treatment of Alstrom syndrome. Method The clinical data of a case of Alstrom syndrome and the result of her ALMS1 sequencing by the two generation sequencing were retrospectively reviewed. Results The 12 year and 10 month old female suffered from dilated cardiomyopathy, obesity, optic nerve diseases, sensorineural hearing loss, high blood glucose and irregular menstruation since one month of birth. Laboratory examination showed she had high testosterone level, hyperglycemia, hyperlipidemia and fatty liver. High-throughput sequencing confirmed there was ALMS1 gene mutation which includes hybrid frameshift mutations of c.5418delC and p.Y1807Tfs*23, and heterozygous nonsense mutation of c.10549C>T and p.Q3517*, and c.5418delC was a new variation reported for the first time. Conclusion Alstrom syndrome is an autosomal recessive genetic disease, which is characterized by multiple organ dysfunction and metabolic syndrome, and can be diagnosed by gene detection.

Objective To explore the clinical manifestation and gene mutation of primary renal glucosuria (PRG). Methods The clinical data and gene detection results of a child with PRG were analyzed. Results A girl aged 2 years and 10 mouths had glucose ++++ by urine dipstick analysis and 22.4 g of the 24 h urine glucose. Her father was urine glucose positive. Genome DNA was extracted from peripheral blood of the girl and her parents, SLC5A2 gene were amplified by PCR for sequencing, including exons and splicing areas. The results showed a homozygous point mutation (c.127-16C>A) in girl, and both of her patents had the same heterozygous mutation. This mutation had been classified to pathogenic mutations by ClinVar data base. Conclusions The diagnosis of PRG is confirmed in this child and SLC5A2 gene mutation is the cause.

OBJECTIVETo observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.

METHODSWe analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype Klinefelter syndrome and his parents. We identified 9 sequence tagged sites (STS) by multiplex PCR: sY84, sY86, sY127, sY129, sY134, sY254, sY255, sY242, and sY152. Meanwhile we detected the SRYgene and the microdeletion of AZF using ZFX/ZFY as the internal control gene.

RESULTSThe karyotype of the patient was 46,XY (12%)/47,XXY (30%)/48,XXYY (56%)/49,XXXXY (2%). The karyotypes of his parents were normal. Consistency was found between the SRY gene and the chromosome gender in the patient and his parents. Y chromosome AZF microdeletion was observed in the patient. The deletion sites were sY86 and sY127, and the deletion type was AZFa + AZFb.

CONCLUSIONAZF microdeletion of the Y chromosome exists in patients with Klinefelter syndrome. Chromosome karyotype and Y-chromosome AZF microdeletion are important criteria for the genetic diagnosis of Klinefelter syndrome.

Chimerism ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Cytogenetics ; Humans ; Infertility, Male ; Karyotyping ; Klinefelter Syndrome ; genetics ; Male ; Sequence Tagged Sites ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult

Objective: To investigate outcome and clinical value of liposuction in primary lymphedema of lower extremities. Methods: Thirty patients with primary lymphedema in unilateral lower extremity were recruited in this study from July 2016 to August 2017 in Beijing Shijitan Hospital. There were 13 male and 17 female patients, with the average age of (36±16.3) years. All the patients were underwent liposuction. The volume of hemorrhage and lipid, operation time and the volume changes of affected extremity were recorded. The subjective evaluation of the patients were also proceed. The patients were divided into different groups according to gender, stage and erysipelas history. Results: Total lipid volume is 900-3 900 ml. The hemorrhage volume is 160-1 100 ml during liposuction. The ipsilateral-contralateral percent volume of lower extremity was decreased immediately after surgery (6.6%±10.0%, t=7.050, P=0.000), and 3 months postoperatively (12.2%±10.7%, t=5.365, P=0.000), when compared with preoperative (31.4%±16.4%). However, the percent volume was increased 3 months after surgery, compared to immediately postoperative measurements (t=-2.088, P=0.041). Female patients had more lipid volume and higher liposuction rate than males, whereas male patients show more affected extremities volume before, after and in 3-month follow-up. The hemorrhage volume was also higher in male than female patients. Patients with erysipelas had higher volume of hemorrhage, with lower lipid volume and liposuction rate. Stage Ⅱpatients show higher lipid volume and liposuction rate than stage Ⅲ patients in operation, with lower hemorrhage and affected extremity volume changes in before, after and 3-month follow-up. In subjective assessment, the experienced heaviness and fatigue was alleviated in all patients, while the pain and tightness was increased. Conclusions Liposuction is an effective therapy for primary lymphedema in lower extremity. It is necessary to combine with other therapies to improve lymph circulation. Patients′ gender, stage and the history of erysipelas are the main influencing factors of operation difficulty and prognosis.