Objective To explore the clinical manifestation of a patient with hypoparathyroidsmsensorineural deafness-renal dysplasia (HDR) syndrome and to sequence the related GATA3 gene of the patient.Methods A 22 year old person with HDR syndrome was reported in regard to clinical manifestation,laboratory examination,and genetic mutation.Some related literatures were reviewed.Results The patient showed tetany,deafness,and positive Chvosteks' and Trousseau' s signs.The initial laboratory studies showed that serum concentration of calcium was lowed and the iPTH level were lower than normal.Binaural pure tone audiometry showed Binaural sensorineural deafness.Colour doppler ultrasound revealed that his right kidney was not observed and the level of creatinine was increased,indicating renal insufficiency.GATA3 mutations on DNA sequence analysis indicated that the 6 exon IVS6-1G-A (G/A heterozygosis splicing),showed the mutation of G to A is in the upstream of the first base in the six exon.After treating with calcium carbonate and vitamin D,the symptoms and signs were improved.Conclusion HDR syndrome is a rare endocrine disease,that should receive more attention in order to avoid missing diagnosis;The IVS6-1G-A as a novel mutation of GATA3 gene,has not been reported so far.

OBJECTIVE:To investigate clinical efficacy and safety of goserelin in the treatment of adenomyosis complicated with severe dysmenorrheal before placing levonorgestrel intrauterine system (LIS). METHODS:A total of 140 adenomyosis pa-tients with severe dysmenorrheal were selected from Sanya Family Planning Technology Service Center during Jan. 2014-Jan. 2016, and then divided into control group and observation group according to lottery method,with 70 cases in each group. Both groups re-ceived LIS within first 7 d of menstruation,and observation group was given Goserelin acetate sustained-release implant 10.8 mg subcutaneously via anterior abdominal wall one week before placing. Therapeutic efficacy was evaluated 6 months later. The im-provement of dysmenorrhea was compared between 2 groups. The uterine volume,COX dysmenorrhea score (CMSS),menstrual volume,hemoglobin (Hb) and CA125 content were compared between 2 groups before and after treatment. The occurrence of ADR was also compared. RESULTS:The rate of dysmenorrheal improvement in observation group was 95.71％,which was signifi-cantly higher than 81.43％of control group,with statistical significance(P<0.05). Before treatment,there was no statistical signif-icance in above indexes between 2 groups (P>0.05). Compare to before treatment,CMSS score,menstrual volume and CA125 content of 2 groups were decreased significantly after treatment,while Hb content was increased significantly;the observation group was significantly better than the control group,with statistical significance(P<0.05). There was no statistical significance in uterine volume between 2 groups before and after treatment (P>0.05). There was no statistical significance in the incidence of ADR(10.00％ vs. 14.29％)between 2 groups(P>0.05). CONCLUSIONS:Goserelin in the treatment of adenomyosis complicated with severe dysmenorrheal before placing LIS can effectively relieve dysmenorrheal,reduce menstrual volume and improve Hb and CA125 levels,but do not increase the risk of ADR.

Objective To investigate the prevalence of hyperglycemia in patients with primary aldosteronism.Methods Thirty two patients diagnosed as primary aldosteronism(PA) in our hospital from 2010 to 2013 (PA group),and 40 patients as essential hypertension (EH group).Two groups were measured and compared,including blood pressure,plasma aldosterone,urine aldosterone,and plasma potassium.Oral glucose tolerance test (OGTT) was performed and homeostasis model assessment-insulin resistance index(HO-MA-IR) were calculated.Results The prevalence of hyperglycemia was 43.75％ in PA group,including 25％ patients of glucose intolerance and 18.75％ patients of diabetes mellitus,which was significantly higher than those of EH group (25％,12.5％,and 12.5％,respectively).PA group's fasting and 2-hour postprandial insulin levels and insulin resistance index were higher than that of EH group.Conclusions The present study indicated that patients with PA had a significantly high prevalence of glucose metabolism disturbance and insulin resistance.Screening test should be performed and avoid missed diagnosis.

Objective To investigate the role of endothelin - 1( ET-1) and interleukin-8( IL-8) in tracheal aspirates (TA) in children with acute respiratory distress syndrome(ARDS). Methods The levels of ET- 1 and IL - 8 in TA of 13 patients with ARDS and 11 controls were assayed by enzyme - linked immunosorbent assay. Lung injury score was applied to all patients. Results The levels of ET-1 and 1L-8 in TA were significantly higher in ARDS than those in controls (P

To determine the content of isopsoralen in Gushuling Capsule. High performance liquid chromatography was performed on C 18 column. The chromatographic conditions were as follows: methanol-water (48∶52) as mobile phase, flow rate being 1.1?mL/min and the detecting wavelength at 245?nm. A good linearity of isopsoralen was shown in the range of 0.0342～0.2736??g, r=0.9998. The average recovery is 92.11%, RSD=1.89% (n=5). The method is with good reproducibility,RSD=2.05%.[Conclusion]This method can supply evidence for the quality control of Gushuling Capsule.

Objective To obtain the length-chest circumference index of normal term newborns in different gestational age. Methods By cross-sectional time cluster sampling fact-ifnding investigation method, the anthropometric data on 16388 newborns from 2013 to 2015 were measured, including birth weight, length, crown-rump length, head circumference, and chest circumference, to develop normal full-term infants height chest circumference index (BCI) in different gestational age. Results Anthropometric data of 13776 normal term infants were available at the end of the study. The BCI, Ververck Index (VI), Elisma index (EI) were increasing with the gestational age at newborn. BCI, VI, EI in male is less than those of female with signiifcant difference (P<0.05). There were some differences of newborn’s BCI, VI and EI in 2015 than those in 2005. Conclusion Com-pared to ten years ago, chest fullness increased with gestational age at different gestational ages in normal full-term infants, and the chest fullness in male is less than that in female.

Objective To examine osteopontin (OPN) levels in both synovial fluid and articular cartilage of patients with primary knee osteoarthritis (OA) and to investigate their relationship with severity of the disease. Methods Fifty patients with knee OA and 10 healthy controls were enrolled in this study.There were 15 males and 35 females with an average age of 61.8±7.4 years in OA group. The control group included 4 males and 6 females with an average age of 63.2±6.0 years. Mankin score were taken to determine the disease severity of the affected knee. The radiographic grading of OA in the knee was performed using the Kellgren-Lawrence criteria. OPN levels in synovial fluid were measured using enzyme-linked immunosorbent assay. OPN levels in articular cartilage were assessed by immunohistochemical methods. Results Compared to healthy controls, the knee OA patients had higher OPN concentration in synovial fluid ([4519.60±1830.37] pg/ml vs. [1179.70±303.39] pg/ml) and articular cartilage([0.60±0.06] vs. [0.43 ±0.07]). In addition, synovial fluid OPN levels showed a positive correlation with articular cartilage OPN levels (r=0.411,P=0.003). Subsequent analysis showed that the OPN levels in synovial fluid significantly had been correlated with severity of disease using Kellgren-Lawrence criteria (r=0.581, P＜ 0.001). Furthermore,the levels of OPN in the articular cartilage also were correlated with disease severity using Mankin score (r=0.675, P＜ 0.001).Conclusion The data suggest that OPN in synovial fluid and articular cartilage is related to progressive joint damage and could be a predictive biomarker respect to disease severity and progression in knee OA.

Objective To analyze the manifestation,reason,the processing method of the steel wire implantation with the sereotactic mammography to improve the accuracy of the preoperative positioning.Methods Seventy-nine cases which got the stereotactic steel wire implantation.In 96 lesions, 13 had steel wire displacement.Among them,5 cases got steel wire displacement during the sereotactic process,5 cases got steel wire displacement after the stereotactic process,2 cases got steel wire displacement during the operation,one case did not show the calcification on the postoperative radiography.Results The steel wire displacement occurred in 5 cases during the stereotactic process came from the patients and doctors respectively and the repositioning was needed.The steel wire displacement after the stereoscopic positioning was attributed to the overdose injection of local anesthesia,which led to the mismatch between the depth of Z axis of the mammary gland and the actual depth the computer given,the incorrect method for needle placement,and,neglecting whether the steel wire have got the lesion anchored when pulling out the needle set of steel wire hood,besides,these three kinds of instances above were all exaggerated by the accordion effect.For the displacement within 2 cm,the lesion can be excised toward the pathological change direction according to the position that steel wire prompted and re-place the second steel wire,putting the J-shaped steel wire into the needle hood and taking it out of the body.After repositioning,2 cases had the steel wire prolapse during operation,which resulted from the over-lifting of the steel wire.After placing the steel wire, the radiologist should give an accurate description on the depth and direction to the surgeon and the notch should be taken for incision from the steel wire head end which is proximate to skin.The postoperative specimen from one case had no calcification,which might be related to the condition that the calcification was located in the gland body,which got destruction from the surgical electrical electrotome.The excisionscope should be extended and the short term reexamination is recommended to make sure the complete excision of the calcification.Conclusion It is the gold standard method that implanting the steel wire with the stereotactic mammography to guide the surgical dissecting technique to diagnose non-palpable breast lesion(NPBL).Thorough understanding of the displacement manifestation of implanting steel wire with stereotactic technique and the treatment methods will be helpful in the surgical dissecting guidance.

ObjectiveTo observe occupational therapy combing with physical therapy on the upper limb movement function and the activities of daily living for the old stroke patient.Methods62 stroke patients with hemiplegia were divided into the observation group (occupational therapy with physical therapy) and control group (physical therapy). All patients were evaluated with Bathel Index (BI) and Fugl-Meyer Assessment (FMA) before and 3 months after treatment.ResultsThe scores of BI and FMA increased significantly in the observation group compared with the control group after the treatment (P<0.01).ConclusionOccupational therapy combing with physical therapy can obviously improve the upper limb movement function and the activities of daily living for the old stroke patient.

Objective: To produce fluorescent tagged recombinant erythroferrone protein (ERFE-eGFP) for laboratory investigations. Methods: Erythroferrone (ERFE) gene was fused to green fluorescent protein (eGFP) gene and cloned in a pSecTag2Hygro plasmid. The constructed plasmid was amplified in Escherichia coli DH5 α and the eGFP-fused ERFE (ERFE-eGFP) protein was expressed in human embryonic kidney (HEK293T) cell line. Results: The plasmid constructed from colony C6 contained ERFE-eGFP with the correct restriction sizes of 4.2 kb and expressed secretory ERFE-eGFP fusion protein (approximately size of 75 kDa) in HEK293T cell line. Conclusions: ERFE-eGFP recombinant protein is successfully expressed as a secretory functional protein and could be sensitively detected using fluorometry. This fusion protein might benefit future applications for localization of cellular ERFE receptors and competitive immunoassay of ERFE concentration.