Single nucleotide polymorphism (SNP) refers to the single base sequence variation in specific location of the human genome. Phenotype informative SNP has gradually become one of the research hot spots in forensic science. In this paper, the forensic research situation and application prospect of phenotype informative SNP in the characteristics of hair, eye and skin color, height, and facial feature are reviewed.
Eye Color/genetics* ; Forensic Genetics/trends* ; Forensic Sciences ; Genome, Human ; Hair ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics*

Objective To investigate the infection status quo of 21 kinds of genotypes of human papillomavirus (HPV)and their distribution rule among the women in Hengyang region.Methods A total of 8 032 women voluntarily accepting cervical cancer screening in the Hengyang Municipal Maternal and Child Health Care Hospital fromg April 2012 to May 2013 were selected as the research subjects.The exfoliated cells samples of cervical tissue were collected for detecting 21 kinds of HPV genotypes by Hybri-Max.The HPV infectious rate and the HPV gene distribution were analyzed by using SSPS13.0.Results Of 8 032 women,1 664 cases were detected out 1 kind or more than 2 kinds of HPV,the HPV infectious rate was 20.72%(1 664/8 032).The top 6 geno-types of HPV were HPV16,52,58,81,53 and 18.Among 1 664 female cases of HPV infection,the single HPV infection rate was 76.44%,the multiple infection rate was 23.56%,which was dominated by the double infection;the total positive rate in the various age groups of HPV infection presented theU-type distribution with the age increase,however the total positive rate had no statis-tically significant differences among all age groups(P >0.05 ).Conclusion The HPV female infection rate in Hengyang region is relatively higher,moreover the high risk HPV is predominant.HPV 16 occupies the top ranking.

0.05). The relative bioavailability of tested capsules to reference tablets was (99.3?13.1)% Conclusion Both formulations are of bioequivalence.

Objective To find out the iodine nutritional status of children in Xiamen island, and to provide the scientific basis for iodine supplimentation. Methods On March 2010, thyroids of all children aged 6to 12, from primary school on the Xiaodeng island of Xiamen were examined by palpation, urinary iodine, iodine content of salt athome and IQ level were tested, and were collected 20 households, iodine content of drinking water was tested randomly. Results IQ testing and thyroid palpation were carried out among a total of 156 children, the goiter rate of children was 1.28% (2/156), the mean IQ was 110; 154 urine samples were taken, the median urinary iodine was 219.1 μg/L; a total of 153 salt samples were tested, and the qualified rate of iodized salt was 87.58%(134/153), and the mean iodine content in the tap water was 4.52 μg/L Conclusions Iodine nutritional status of the island residents is better, and there are no such problems as excessive iodine.

OBJECTIVETo summarize the ultrasonographic characteristics of ovarian carcinosarcoma (OCS).

METHODSTotally 12 patients with OCS have been detected in our department. All patients underwent surgical resection and the OCSs were confirmed pathologically. Ultrasound examination was performed before operation. Imaging features were analyzed retrospectively for bilaterality, size, and tumor solidity (cystic or solid). Presence of ascites and other evidence of peritoneal seeding, adjacent organ invasion, and surgical staging were also evaluated.

RESULTSUnilateral OCSs were found in 11 patients and bilateral OCSs in one patient one side was missed by ultrasound). Nine OCSs were solid, and 3 were mixed (solid and cystic). The diameter of the largest dimension was less than 10 cm in 4 cases, 10-20 cm in 7 cases, and larger than 20 cm in one case. Other ultrasonographic findings including peritoneal seeding and direct invasion into the adjacent organs were seen in 8 patients. Surgical stages were International Federation of Gynecology and Obstetrics (FIGO) classification c and b in one patient each, c in 9 patients, and in one patient.

CONCLUSIONOCSs usually present as large, hypoechoic, solid, and aggressive tumors, combined with frequent peritoneal seeding and adjacent organ invasion.

Adult ; Aged ; Carcinosarcoma ; diagnostic imaging ; Female ; Humans ; Middle Aged ; Ovarian Neoplasms ; diagnostic imaging ; Retrospective Studies ; Ultrasonography

OBJECTIVETo examine electroencephalographic (EEG) background patterns and serum neuron specific enolase (NSE) levels in neonates with hypoxic-ischemic encephalopathy (HIE) in order to study their roles in assessing clinical progress, severity and prognosis in children with HIE.

METHODSA total of 58 neonates with HIE, including 38 cases of mild, 12 cases of moderate and 8 cases of severe HIE, were enrolled. Thirty normal neonates were used as the control group. Serum NES levels were measured by radioimmunoassay 12-24 hrs and 7-10 days after birth. EEG examination was performed 24 hrs-18 days of age (early stage) and 28-30 days of age (convalescence stage). The neonates with HIE were followed-up, with a duration of 6 months to 3 years.

RESULTSFifty-five neonates with HIE (94.8%) showed EEG abnormalities in the early stage, but only 2 patients (6.7%) in the control group (p<0.01). EEG background patterns abnormalities in the early stage were found in 90.0% (18/20) of moderate-severe HIE neonates. The proportion was significantly higher than that in the mild HIE group [5.2% (2/38); p<0.01]. Thirteen (72.2%) out of 18 patients with early EEG background patterns abnormalities had poor outcomes. Serum levels of NES in the HIE group were significantly higher than those in the control group 12-24 hrs after birth (p<0.01). EEG background patterns abnormalities and increased serum levels of NES 12-24 hrs after birth were consistent with the clinical grading of HIE. Most of neonates [87.5% (7/8)] who showed abnormal EEG background patterns at the convalescence stage had neurological sequelae.

CONCLUSIONSEEG background patterns and serum NSE levels may be useful in assessment of disease severity and neurological outcome in children with HIE.

Electroencephalography ; Female ; Humans ; Hypoxia-Ischemia, Brain ; blood ; mortality ; physiopathology ; Infant, Newborn ; Male ; Phosphopyruvate Hydratase ; blood ; Prognosis

OBJECTIVETo observe the expression and clinical implication of receptor for activated C kinase 1 (RACK1) in mononuclear cells and coronary atherosclerotic plaques from patients with coronary artery disease.

METHODSmRNA and protein expressions of RACK1 were detected in mononuclear cells from 29 patients with stable angina pectoris (SAP), 41 patients with acute coronary syndrome (ACS) and 30 healthy volunteers. RACK1 protein expression was also detected by immunohistochemistry in 17 coronary atherosclerotic plaques and 6 normal autopsy coronary samples.

RESULTS(1) mRNA expression of RACK1 was significantly upregulated in mononuclear cells from patients with ACS compared with those from patients with SAP (18.71 ± 5.45 vs. 12.18 ± 4.14, P < 0.05), and the latter was also significantly higher than in healthy controls (12.18 ± 4.14 vs. 3.65 ± 1.57, P < 0.05). (2) Similar changes were observed for protein expression of RACK1 for the three groups. (3) Increased expression of RACK1 was found in atherosclerotic plaques, especially in unstable plaques, positive RACK1 stain was evidenced in foam cells, inflammatory cells, smooth muscle cells and endothelial cells.

CONCLUSIONSThe expression of RACK1 is significantly upregulated in mononuclear cells from patients with coronary artery disease, especially in patients with ACS, and in coronary atherosclerotic plaques, especially in unstable plaques. Our results thus suggest that RACK1 might play an important role in the development and progression of coronary artery disease.

Adult ; Aged ; Case-Control Studies ; Coronary Artery Disease ; blood ; genetics ; pathology ; Female ; Gene Expression ; Humans ; Leukocytes ; metabolism ; Male ; Middle Aged ; Receptors for Activated C Kinase ; Receptors, Cell Surface ; genetics ; metabolism

OBJECTIVEWernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. The disorder is still greatly underdiagnosed in children because of either a relatively non-specific clinical presentation in some cases or unrecognized clinical setting. The aim of this literature review was to provide knowledge of pediatric WE in an effort to assist in early diagnosis, thereby reducing the morbidity and mortality.

METHODSThe clinical manifestations, characteristic magnetic resonance imaging (MRI), diagnosis and treatment of one case and the other 35 cases reported in the last decade in children were summarized.

RESULTSThirty-six cases (22 boys and 14 girls, 2-month to 16-year-old) were analyzed. All the other 35 cases except for our case had underlying diseases: improper feeding in 25/35 cases, long-time vomiting in 5/35 cases, immunosuppressive therapy in 4/35 cases, long-time total parenteral nutrition without multivitamin preparations supplementation in 3/35 cases and anorexia nervosa in 1/35 case. The classic triad (mental-status changes, nystagmus and ophthalmoplegia, and ataxia) was seen in 6/36 cases. The other clinical manifestations included consciousness disturbance in 24/36 cases, infection in 22/36 cases, pathological reflex and muscular tension changes in 18/36 cases, convulsion in 17/36 cases, developmental delay in 4/36 cases and failure to thrive in 2/36 cases. Cerebrospinal fluid examination was performed in 31/36 cases, and a slightly raised protein concentration was seen in 7/31 cases. The cerebrospinal fluid lactate levels were detected in 4/36 cases (all increased), serum lactic acid levels in 7/36 cases (6/7 cases increased), serum pyruvate in 4/36 cases (all increased), thiamine pyrophosphate effect (TPPE) in 9/36 cases (all increased), and serum thiamine in 2/36 cases (increased in 1/2 cases). The brain computed tomography (CT) scan was conducted in 20/36 cases and 16/20 cases showed abnormal hypodensity in bilateral basal ganglia, one case revealed diffuse cortical atrophy. The brain MR scan was conducted in 13/36 cases and all the 13 cases revealed symmetrical abnormal signal in bilateral mamillary body and basal ganglia, and 7/13 cases showed abnormal signals in the tegmentum of midbrain, cerebral aqueduct and white matter around the third and fourth ventricles. The diagnosis of WE was confirmed by MR in 12 cases, triad combined with MR in 3 cases, autopsy in 1 case among the 13 cases who underwent MR scan. The diagnosis of WE was confirmed by the TPPE and/or lactate levels in 9/11 cases. The initial thiamine was given by intravenous or intramuscular infusion in 33/36 cases, unknown method in 1 case, orally in 1 case and no thiamine was used in 1 case. The dosage of thiamine was 100 mg daily in 29/35 cases, unknown in 3/35 cases, 50 mg daily in 2/35 cases, 600 mg daily in 1/35 case. 34/35 patients' clinical symptoms improved during 24 hours to 1 week after initial treatment, and 1 case died due to no response to thiamine. Nineteen patients were followed up for 2-2.5 months and 17 cases recovered completely.

CONCLUSIONWernicke's encephalopathy can be difficult to diagnose because of a relatively non-specific clinical presentation. The characteristic MRI findings and the dramatic response of neurological signs to parenteral thiamine will assist early clinical diagnosis. Early and timely thiamine supplementation could reverse the clinical features and improve the prognosis in most cases.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Sepsis ; complications ; Wernicke Encephalopathy ; complications ; diagnosis

OBJECTIVETo evaluate the application of ultrasonography in the detection of nasal interdomal fat pad (IFP).

METHODSThirty-eight patients who underwent open rhinoplasty and other surgeries in our hospital were enrolled in this study. All patients were studied by ultrasonography to evaluate the shape, structure, size, and location of IFP. The results of ultrasonography were compared with intraoperative findings.

RESULTSThe boundaries between IFP and the subcutaneous fat were clear under ultrasonography in 32 patients (84.2%), but were not clear in 6 patients (15.8%) who had undergone injection rhinoplasty (n=2) or augmentation rhinoplasty (n=4). As shown by ultrasonography,the average length,width,and height of IFP were (11.81∓1.28) mm, (2.49∓0.57) mm, and (1.90∓0.61) mm, respectively,which were not significantly different between male and female patients (P>0.05). In addition, the length, width, and height of IFP were significantly larger in nasorostral hypertrophy group than in normal group (P0.05).

CONCLUSIONUltrasonography can accurately evaluate the size and morphology of IFP pre-operatively, and therefore is helpful to ensure the success of rhinoplasty.

Adipose Tissue ; anatomy & histology ; diagnostic imaging ; Adolescent ; Adult ; Female ; Humans ; Male ; Nose ; anatomy & histology ; diagnostic imaging ; surgery ; Preoperative Care ; Ultrasonography ; Young Adult

Objective To investigate the current conditions of water iodine,childrens'iodine nutrition and residents'edible circumstance of iodized salt in the villages with high iodine in drinking water and the adjacent three villages in Xiamen city of Fujian province.Methods Four natural villages of Qianbian,Donglian,Dazhong and Dongshan of Xiangan county were chosen as survey spots in 2008.In each village,one running water sample and all well water samples were collected to obtain the benchmark for each location.All children aged 7-13 year in the four villages underwent thyroid palpation and were selected to measure the urine iodine and the salt iodine.The water iodine and urine iodine were determined by As3+-Ce4+ catalytic spectrophotometry digestion,salt iodine was determined by direct titration.Results In four investigated villages,iodine of four running water samples were all 1.5μg/L.The range of 237 well water iodine samples was from 0.1 μg/L to 506.0 μg/L.There were 18.6% (44/237)specimens in which the well water iodine less than 10 μg/L,73.4%(174/237)between 10 μg/L and 150 μg/L and 8%(19/237)more than 150μg/L.The median of urinary iodine was 153.3 μg/L in 79 urine samples,which was 114%(9/79)more than 200μg/L and less than 300μg/L,12.7%(10/79)equal or more than 300 μg/L and less than 500μg/L,7.6%(6/79)equal or more than 500μg/L and less than 800 μg/L in all samples.Seventy-nine students were examined by palpation and the total goiter rate of children measured was 11.4% (9/79).Seventy-one samples of iodine salt were detected and the coverage rate of iodized salt was 77.5%(55/71).Conclusions The well water iodine contents have a wide distribution in the investigated villages.We should enhance the community awareness by educating them on the damage of iodine excess and iodine deficiency.