OBJECTIVE: To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations. RESULTS: The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BβArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery. CONCLUSION Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.
Humans ; Child ; Female ; Fibrinogen/genetics* ; Pedigree ; Afibrinogenemia/genetics* ; Mutation ; Blood Transfusion

OBJECTIVE: Through analysis of ABO blood group gene typing technology, to assist in the identification of difficult clinical serological specimens. METHODS: A total of 10 forwardreverse typing ambiguous samples were collected from January 2021 to August 2021 in our hospital.ABO genotypes were analysed by gene sequencing. RESULTS: The genotypes of 10 ABO ambiguous blood group samples were A102/BW11, A102/BW12, O02/O02, A102/B303, A102/B101, BW11/O02, B101/O04, BW11/O01, BW11/O01, A101/O02, respectively. The genotype results of 6 cases was consistent with the serological phenotype, and the serological phenotype of 4 cases were different from the geno sequencing. CONCLUSION ABO blood groups genotyping technology combined with serological typing can be used for accurate typing of ambiguous blood group, and better ensure the safety of blood transfusion.
ABO Blood-Group System/genetics* ; Alleles ; Blood Grouping and Crossmatching ; Exons ; Genotype ; Phenotype

Objective:To explore the characteristics of unmet needs and services of rehabilitation for people with hearing disability (PHD). Methods:A total of 219 473 PHDs administration data of unmet needs and services of rehabilitation at provincial level were sampled (2019) and analyzed the characteristics of needs and services of rehabilitation with multiple response analysis, and the related factors of needs and services with Logistic regression. Results:There were 47 657 (21.7%) PHDs reported their unmet needs of rehabilitation, from high to low were assistive devices (65.5%), medicine (22.7%), nursing care (19.1%), functional training (16.2%) and surgery (2.2%). There were 34 684 (18.8%) PHDs reported their received services, from high to low were assistive devices (59.8%), medicine (22.5%), functional training (19.7%), nursing care (19.4%) and surgery (1.8%). The logistic regression model showed that age, types of household registration and severities of disabilities related with the reported unmet needs and received services (P < 0.001). Conclusion:PHDs mainly reported unmet needs in the fields of assistive devices, medicine, and rehabilitation training. The reported unmet needs for PHDs had matched the received services structurally. It proposed to use modern science and technology to develop services delivery and to improve accessibility and quality of rehabilitation services.

Objective:To analyze the characteristics of unmet needs and services of rehabilitation for people with intellectual disability (PIDs). Methods:A total of 250 654 PIDs had been sampled and administration data of unmet needs and services of rehabilitation at provincial level had been analyzed the characteristics of unmet needs and services of rehabilitation, and the related factors of needs and services were analyzed with Logistic Regression. Results:The rate of unmet needs reported by PIDs from high to low were nursing (47.8%), medicine (37.2%), functional training (26.1%), assistive devices (19.8%) and surgery (1.3%). The PIDs reported received service of rehabilitation, including nursing care (43.5%), medicine (29.3%), functional training (27.2%), assistive devices (19.6%) and surgery (0.8%). Logistic Regression Model showed that age and severity of disabilities significantly affect the reported the unmet needs and received services (P < 0.001). Conclusion:PIDs reported unmet needs mainly involved in the fields of nursing care, medicine and rehabilitation training and therapy. The unmet needs and received services had similar structure. It proposed to develop rehabilitation services tailored to PIDs' intellectual function and adaptive behaviors to develop services items and to deliver individualized and precise services.

Objective:To explore the characteristics and the influential factors of unmet needs and services development of rehabilitation for people with extremely severe hearing disability (PSHDs). Methods:A total of 90 052 PSHDs were included. Multiple response was used to analyze the characteristics of unmet needs and services of rehabilitation. The structural equation model of the received service and unmet needs of PSHDs was developed. Results:The reporting rate of unmet needs of rehabilitation for PSHDs, from high to low, were assistive devices (61.5%), nursing care (24.1%), medicine (23.4%), functional training (17.6%) and surgery (2.5%). The reporting rate of received service for PSHDs, from high to low, were assistive devices (58.3%), nursing care (24.4%), medicine (22.4%), functional training (22.0%) and surgery (2.2%). Structural Equation Model showed that the more services received, the more needs for cochlear implantation surgery and speech therapy (P < 0.001); the better family income situation, the more needs for cochlear implantation surgery (P < 0.001); and age factor had significant effects on the unmet needs of cochlear implantation surgery and speech therapy (P < 0.001). Conclusion:PSHDs reported unmet needs and received services mainly included assistive devices, nursing care, medicine and functional rehabilitation training. Those PSHDs who had received services would report more demand of unmet needs, supposed that improving the accessibility and coverage of services should be emphasized in the development of rehabilitation services. According to ICF model, on the basis of the characteristics of the unmet needs of PSHDs, it proposed to take measures to implement precise rehabilitation services to improve the quality of services.

OBJECTIVETo investigate the association between rs9722 polymorphisms in the S100B gene and hand, foot and mouth disease (HFMD) caused by enterovirus 71.

METHODSA total of 124 HFMD children with enterovirus 71 infection were enrolled as subjects, and 56 healthy children were enrolled as control group. The rs9722 polymorphisms in the S100B gene were detected for both groups, and the serum level of S100B protein was measured for 74 HFMD children.

RESULTSThe rs9722 locus of the S100B gene had three genotypes, CC, CT, and TT, and the genotype frequencies were in accordance with Hardy-Weinberg equilibrium. Compared with the control group, the HFMD group had significant increases in the frequencies of TT genotype and T allele (P<0.01). Children with severe HFMD caused by enterovirus 71 infection had significantly higher frequencies of TT genotype and T allele than those with moderate or mild HFMD (P<0.05). Compared with the cured patients, the patients with poor prognosis had significant increases in the frequencies of TT genotype and T allele in the rs9722 locus of the S100B gene (P<0.05). Among the 74 children with HFMD, the children with TT genotype had the highest serum level of S100B protein, and those with CC genotype had the lowest level (P<0.01).

CONCLUSIONST allele in the rs9722 locus of the S100B gene might be a risk factor for severe HFMD caused by enterovirus 71 infection.

Child, Preschool ; Enterovirus A, Human ; Enterovirus Infections ; complications ; Female ; Genotype ; Hand, Foot and Mouth Disease ; etiology ; genetics ; Humans ; Infant ; Male ; Polymorphism, Genetic ; S100 Calcium Binding Protein beta Subunit ; genetics

Internal carotid arterial system is the main source of blood supply in brain. In forensic identi-fication practice, blunt injures of internal carotid arterial system usually cause complications such as throm-bus, aneurysm and arteriovenous fistula, etc. The deaths following delayed cerebral infarction or intracra-nial haemorrhage are not rare. At present, literature of deaths caused by blunt injuries of internal carotid arterial system mainly consist of case reports in China. This paper reviews related literature and case re-ports at home and abroad, and summarizes forensic medical features and identification method of the deaths caused by such injuries. The results show that blunt injures of internal carotid arterial system are related to the direct or indirect force on head and neck, which can result in exceed physiological range traction of head and neck, incision following basicranial fracture, etc. Such injuries are common in the cases as mechanical asphyxia, cervical manipulation, traffic accident and fall, etc. The artery should be examined carefully, and the relationship among injury, disease and death should be analysed correctly when no cause of infarction and hemorrhage was found in routine examination of such cases in forensic pratice. Because of the difficulty for exposing the artery completely in autopsy, angiography can be used to infer the location when necessary for improving the scientificity and reliability of the appraisal conclusion.

OBJECTIVES: To explore the species distribution and constituent ratio of diatoms in main sections of urban district rivers where drowning occurs frequently in Chengdu. METHODS: Total 39 water samples from the sampling points of 5 rivers （Jinjiang, Jinniu, Qingyang, Wuhou and Chenghua districts） in October 2014 were collected. The diatoms smear were made and the species distribution and constituent ratio of diatoms from the water samples were analyzed using biological microscope and acquisition system of digital microscope. RESULTS: Total 21 species of diatoms were detected in main sections of urban district rivers in Chengdu. Significant differences in the dominant diatom species and proportions of the different rivers were observed, and there were different species existed in all sampling points of the upstream, midstream and downstream of the rivers. CONCLUSIONS The database of species map, species distribution and constituent ratio of diatoms in main sections of urban district rivers in Chengdu are preliminarily established, which has special meaning for the analysis and evaluation of falling location inference using diatoms test in case investigation.
China ; Cities ; Diatoms/classification* ; Drowning ; Rivers

We reported a technical report of traumatic lower cervical spondylolisthesisca used by bilateral pedicle fracture, without neurological compression. The patient was treated with the minimally invasive technique of percutaneous pedicle screw fixation. Fracture healing and normal cervical motion were confirmed by plain films and physical examinations on the 18-monthpostoperatively. The technique of percutaneous pedicle screw fixation might be an alternative strategy for the treatment of traumatic lower cervical spondylolisthesis with pedicle fracture.
Cervical Vertebrae ; Female ; Fracture Healing ; Humans ; Physical Examination ; Spondylolisthesis*

OBJECTIVETo investigate the prevalence, clinical characteristics, treatment, and prognosis of neonatal respiratory failure (NRF) in Huai'an, Jiangsu Province, China, in 2010.

METHODSThe clinical data of all NRF cases in the hospitals of Huai'an in 2010 were prospectively collected and analyzed using descriptive epidemiological methods.

RESULTSAmong 60,986 live births in Huai'an in 2010, there were 556 (0.91%) cases of NRF. The average birth weight of newborns with NRF was 2,433±789 g, with 53.8% determined as low birth weight and 64.1% as preterm. The major causes of NRF were respiratory distress syndrome, pneumonia, asphyxia, sepsis, and pulmonary hemorrhage. Among the newborns with NRF, 23.7% were accompanied by certain birth defects. Fourteen percent of newborns with NRF received pulmonary surfactant (PS) therapy, and the median time of the first dose of PS was 5 hours (range: 0-51 hours). Nasal continuous positive airway pressure treatment, conventional mechanical ventilation, and high-frequency ventilation were used in 67.9%, 33.3%, and 13.7% of patients, respectively. The cure and improvement rate of NRF patients was 73.9% (411/556), and the mortality rate was 22.5% (125/556). The average hospitalization expenses were 9,270 (range: 196-38182) Yuan.

CONCLUSIONSHigh morbidity, high mortality and high medical costs make NRF a serious challenge in Huai'an. It is essential to improve the quality of perinatal care and develop new techniques and new models in neonatal respiratory therapy in order to reduce the morbidity and mortality of NRF.

China ; epidemiology ; Female ; Humans ; Infant, Newborn ; Male ; Pulmonary Surfactants ; therapeutic use ; Respiration, Artificial ; Respiratory Insufficiency ; epidemiology ; mortality ; therapy ; Time Factors ; Treatment Failure