Objective To carry out mutation analysis of deafness-associated genes for deaf newborns and their parents, and to estimate the recurrence risk for their parents to have deaf descendants.Methods Suspected cases of inherited deafness were identified by neonatal hearing screening and questionnaires. Genomic DNAs of suspected cases and their parents were extracted from their peripheral blood samples . Common deafness-associated genes(i.e. GJB2,SLC26A4 and 12S rRNA genes)were amplified by polymerase chain reaction(PCR),and those PCR products were sequenced for the mutation analysis.Results From 2013 to 2016, 193 cases of deafness were found in neonatal hearing screening,29 cases of suspected as hereditary deafness were screened,and 17 out of 29 cases were found to have mutations in deafness-associated genes(detection rate:58.62%). GJB2 homozygous mutations were identified in two cases and their parents,and the recurrence risk to have deaf descendants was 100%. Four cases of suspected hereditary deafness had GJB2 homozygous mutations,and their parents were both GJB2 mutation carriers. There was one case with SLC26A4 homozygous mutations,and their parents were both SLC26A4 mutation carrier. Two cases were detected to have GJB2 V371 homozygous mutations,and their parents were both GJB2 V371 mutation carriers. For those seven parents carrying deafness-associated mutations above,the recurrence risk of deafness for their descendants was 25%.Conclusion In addition to hearing screening,the genetic diagnosis of deafness-associated genes is helpful to clarify the cause of suspected neonatal hereditary deafness,and can provide objective reproductive counseling and guidance for those deaf parents or parents with deaf children.

Objective To report the outcome of emergency repair of severe complex defect in forearm by transplantation of free flap and simultaneous functional reconstruction.Methods From Mar.1994 to Aug.2003,4 cases with severe complex defect in forearm was repaired by transplantation of free skin flap, free skin flap combined with fibula flap,or fibula osteocutaneous flap in emergency.Simultaneously the flexion and extension function were repaired by muscle transfer and/or tendon grafting,tenonectomy.Results All the cases were successful.Follow-up period ranged from 1 to 3 years postoperatively.The blood-supply,tex- ture and elasticity of transferred flaps were excellent with good bone healing.Opposition of thumb with four fin- gers was good.Sensory recovery of the hand was satisfactory.Conclusion Transplantation of free flap com- bined with simultaneous functional reconstruction is an ideal method in emergency repair of severe complex de- fect in forearm.

Adult ; Factor VII Deficiency ; complications ; Female ; Humans ; Liver Cirrhosis, Biliary ; complications

Child ; Child, Preschool ; Female ; Humans ; Kidney Neoplasms ; pathology ; Logistic Models ; Male ; Prognosis ; Retrospective Studies ; Wilms Tumor ; pathology

OBJECTIVETo study the clinicopathological, immunohistochemical and electron microscopic characteristics of pediatric rhabdomyosarcomas (RMS).

METHODSOne hundred and forty-five cases of pediatric rhabdomyosarcomas were studied by routine histological, immunohistochemical and electron microscopic studies.

RESULTSThere were 97 male and 48 female patients with ages ranging from 4 months to 13 years and a mean of 4.2 years. The follow-up period of 100 patients was from 1 year to 20 years with a mean of 5 years after diagnosis. All cases were subtyped into the following histological categories: embryonal RMS, botryoid RMS, spindle cell RMS, alveolar RMS and solid RMS. Histopathological subtypes, tumor site and tumor stage correlated significantly with the patients' 5 years survival. The best prognosis was observed in spindle cell and botryoid RMS. Embryonal RMS carried an intermediate prognosis. Patients with alveolar RMS and solid RMS had the worst prognosis. Tumors involving bladder, head and neck carried a favorable clinical outcome. Patients with tumors involving trunk extremities retroperitoneum and pelvis did poorly. Immunohistochemically, all cases were positive for Vimentin. The positive staining rates for desmin, SMA and myoglobin were 78%, 75% and 37%, respectively. All tumors were negative for NSE, CD99 and LCA. Electron microscopy study showed features of myofilament and sarcomere in 10 of 15 cases.

CONCLUSIONSRMS is the most common soft tissue sarcoma of childhood. Immunohistochemistry and electron microscopy are helpful in diagnosis and classification of RMS.

Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Head and Neck Neoplasms ; pathology ; ultrastructure ; Humans ; Immunohistochemistry ; Infant ; Male ; Retrospective Studies ; Rhabdomyosarcoma ; classification ; pathology ; ultrastructure ; Soft Tissue Neoplasms ; classification ; pathology ; ultrastructure ; Urogenital Neoplasms ; metabolism ; pathology ; ultrastructure

This study was aimed to investigate the correlation between HLA gene distribution and allele frequency of the patients with leukemia. PCR-SSP technique was used to detect the HLA genotype of 2994 umbilical cord blood units from healthy newborns (as control), the detecting result of which was compared with HLA genotypes of 1246 patients with leukemia searched in our cord blood bank. The differences between two groups were compared and analyzed. The results indicated that as compared with the control group, the allele frequencies of HLA-B*56 (0.56%), B*70 (0.24%) obviously increased (RR = 2.2546, 6.2598, χ(2) = 5, 5.98, P < 0.05), while the allele frequencies of HLA-A*03 (3.45%), A*30 (4.86%), B*13 (8.75%), B44* (3.25%), B61* (5.70%), DRB1*07 (8.23%), DRB1*15 (14.21%) obviously decreased in patients with leukemia (RR = 0.5889, 0.7187, 0.7359, 0.5713, 0.7127, 0.6242, 0.7976, χ(2) = 19.23, 9.82, 14.33, 20.48, 11.99, 33.21, 11.56, P < 0.01). It is concluded that HLA-B*56, B*70 alleles seem to be characterized by the genetic susceptibility to leukemia and may be served as risk markers for leukemia occurrence, while the HLA-A*03, A*30, B*13, B*44, B*61, DRB1*07, DRB1*15 can be considered as genetic indicators for resistance of leukemia.
Adolescent ; Adult ; Alleles ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Fetal Blood ; Gene Frequency ; Genotype ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-DRB1 Chains ; genetics ; Humans ; Infant, Newborn ; Leukemia ; genetics ; Middle Aged ; Young Adult

OBJECTIVETo investigate the treatment of postoperative chyle leak after surgery for digestive malignancies.

METHODSFrom December 2008 to February 2012, in the Sun Yat-sen Memorial Hospital of Sun Yat-sen University, clinical data of 19 patients with chyle leak after digestive system cancer surgery were retrospective analyzed.

RESULTSNineteen cases of chyle leak were all identified between the second and the fourth postoperative day and were all initially managed with conservative treatment including early fasting, parenteral nutrition(PN), 24-hour continuous infusion of somatostatin, and low pressure suction drainage. Eight patients were treated successfully for 6 to 10 days with a significant reduction of the daily drainage volume. Ten patients had enteral nutrition(EN) and their drain tubes were repeatedly washed with 30 ml of compound meglumine diatrizoate injection every day until the drainage volume decreased to 200 ml/day. The time to resolution of chyle leak in these ten patients ranged from 12 to 24 days. One patient had no significant decrease in fluid drainage and developed abdominal distension after one week of conservative treatment. Surgical closure of chyle leak was performed on the 11th postoperative day, abdominal cavity drainage tube was removed on the 4th postoperative day. The patient was discharged home in good condition.

CONCLUSIONMost postoperative chyle leak after surgery for digestive malignancies can be successfully managed with conservative treatment. Somatostatin and the drainage are the main therapeutic approaches. When chyle leak is not resolved with conservative treatment, surgical treatment should be considered to prevent serious complications.

Adult ; Aged ; Anastomotic Leak ; therapy ; Chyle ; Digestive System Neoplasms ; surgery ; Female ; Humans ; Male ; Middle Aged ; Postoperative Complications ; therapy ; Retrospective Studies

Objective To analyze the epidemiological characteristics and trends of accidental death among children under 5 in Wenzhou during the period of 2007—2016, and to provide basis for the intervention program of accidental death in children. Methods The accidental death case of children in Wenzhou during 2007—2016 were collected,then the variation intensity, trend, and cause of death spectrum of accidental death were analyzed. Results The accidental death rate of children under 5 in this city showed a downward trend (P<0.05) during 2007—2016, with 12.38 per ten thousand on average. The accidental death rate of children in rural area was 13.26 per ten thousand, which was higher than 9.99 per ten thousand in urban area (P<0.05) . The accidental death gap between urban and rural children was narrowed down (P<0.05) . The unintentional death rate of floating children was 18.56 per ten thousand, and was higher than that of local children which was 9.44 per ten thousand (P<0.05) . The first cause of accidental death in children under 5 was accidental asphyxia, but drowning (46.38%) was more prominent in the 1-4 year old children. Conclusion In Wenzhou, the first cause of accidental death in children under 5 was accidental asphyxia.The accidental death of migrant children was significantly higher than local children.These characteristics have a good directional effect on future intervention measures.

Objective To investigate the imaging features of active Crohn′s disease on conventional ultrasound and contrast-enhanced ultrasound (CEUS). Methods The imaging features of 20 patients with an established diagnosis of Crohn′s disease on transabdominal high-frequency ultrasound and contrast-enhanced ultrasound in Shanghai Tenth People′s Hospital from August 2011 to December 2012 were studied retrospectively. Contrast-specific imaging modes were performed and the ultrasound contrast agent was SonoVue. The thickness of inner, outer and all layers of intestinal walls in the lesion area were observed;the ratio between inner and outer bowel wall thickness was calculated;Limberg classiifcation was determined by Power-Doppler results. Likewise, contrast-enhanced ultrasound was used to evaluate the degree and area of bowel wall enhancement, as well as the changes over time. Variance analysis was applied to compare intestinal wall thickness, arrive time of contrast agent, time to peak and washing time of patients with Crohn′s disease from different Limberg groups, and further comparison between groups were anlysed with LSD-t test. Results The intestinal wall thickness of all 20 patients was larger than 4 mm, while the mean thickness of intestinal walls was (8.8±0.4) mm (range 5.5-12.0 mm);the ratio between inner and outer wall thickness was greater than 1.0. Limberg classiifcation wasⅡin 2 patients,Ⅲin 8 patients andⅣin 10 patients. There were two enhancement patterns shown on contrast-enhanced ultrasound:Pattern 1 in 13 (13/20, 65.0%) patients showing simultaneous enhancement in both inner and outer intestinal walls at the same time. Pattern 2 in 7 (7/20, 35.0%) patients showing outward enhancement from inner to outer wall with a predominance of inner wall. The wall thicknesses of patients with Crohn′s disease from Limberg Ⅱgroup, Limberg Ⅲgroup and Limberg Ⅳgroup were (6.6±0.1), (7.5±0.4) and (10.2±0.4) mm respectively. The thicknesses of inner bowel walls were (3.6±0.6), (5.0±0.2) and (7.3±0.3) mm respectively. CEUS time to peak was (30.5±2.1), (26.9±2.4) and (21.0±1.6) s respectively. The wash-in time of the contrast agent was (18.0±5.7), (10.6±1.0) and (8.7±1.2) s respectively. As the Limberg level increased, the thickness of the entire and inner bowel wall both increased, while CEUS time to peak and wash-in time of the contrast agent became longer. These difference was statistically significant. In addition, the ratio between inner and outter wall thickness also increased as the Limberg level increased, however, the difference was statistically insigniifcant. Likewise, the outer bowel wall thickness and the arrival time of the contrast agent in patients with Crohn′s diseases from different Limberg level groups showed no statistical significance. Conclusions The patients with active Crohn′s disease always showed thickened bowel walls, higher Limberg level and complete or partial enhancement of bowel wall on CEUS. There were some correlations between the above-mentioned ifndings.

OBJECTIVE: To study the feature of sudden manhood death syndrome(SMDS) in Dongguan city. METHODS: The data of 284 cases of SMDS were analysized by retrospective study. RESULTS: The distribution of age, sex, the time of death and hometown of the dead in SMDS were described. The clinical or anatomical characters of SMDS were also discussed. CONCLUSION These data will contribute to the late epidemical study.
Adolescent ; Adult ; Age Distribution ; China/epidemiology* ; Death, Sudden/pathology* ; Female ; Forensic Medicine ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Sex Distribution ; Time Factors