The Functional, Psychological and Economic Impacts 6 Months Post Major Trauma

Purpose@#The consequences of severe traumatic injury extend beyond hospital admission and have the potential for long-term functional, psychological, and economic sequalae. This study investigated patient outcomes 6 months following major trauma. @*Methods@#Using the National Trauma Registry, database of patients who were admitted between 2016-18 in a tertiary trauma hospital for major trauma [Injury Severity Score (ISS) ≥ 16] a review was performed on 6-month outcomes [including functional outcomes, self-reported state of health and outcome scores (EuroQol-5 Dimension score and Glasgow Outcome Scale Extended)].Result: There were 637 patients who were treated for major trauma (ISS ≥ 16); the median age was 64 years (range 16-100) and 435 (68.3%) patients were male. The most common injury mechanisms included falling from height (56.5%) and motor vehicle accident (27.0%). The median ISS was 24 (range 16-75). After 6 months, 87.6% of responders were living at home, 25.0% were back to work, and 55.1% were ambulating independently. The median self-rated state of health was 73 at baseline and 64 at 6 months. Age and length of stay were independent predictors of return to ambulation using multivariate analysis. Age, Abbreviated Injury Scale external, Glasgow Coma Scale on Emergency Department arrival, heart rate, and need for transfusion were independent predictors of failure to return to work at 6 months using multivariate analysis. Charlson Comorbidity Index, Glasgow Coma Scale on arrival, temperature, pain and need for inpatient rehabilitation were independent predictors of mortality at 6 months. @*Conclusion@#Recovery from major trauma is multi-faceted and requires a team-based approach well beyond discharge.

Cytogenetic analysis on 5329 children in genetic counseling / 实用医学杂志

Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all, abnormal karyotype were found in 1 723 cases (32.33％) , in which the numerical chromosome abnormalities were detected in 1 539 (89.32％) , following by 125 cases of structural chromosome abnormalities (7.25％) , 53 cases of sex reverse syndrome (3.08％) , and 6 cases of true hermaphroditism (0.35％). The chromosome polymorphism were detected in 228 cases (4.28％). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.

SRY gene-testing in the diagnosis of disorders of sex development among children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.</p><p><b>METHODS</b>The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.</p><p><b>RESULTS</b>Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.</p><p><b>CONCLUSIONS</b>SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.</p>

Analysis of the Mutations in SLC26A4 Gene in Children with Non-syndromic Hearing Loss / 听力学及言语疾病杂志

Objective To study the SLC26A4 mutations in children with non -syndromic hearing loss by ge-netic testing method ,for the purpose of investigating etiology and mutation regularity of hearing loss ,and to provide basic information for the molecular diagnosis of hearing loss .Methods Blood samples and clinical data of 137 spo-radic cases with non -syndromic hearing loss and 126 normal controls were collected .The SLC26A4 gene of the pa-tients and normal controls were amplified by polymerase chain reaction (PCR) ,then subjected to automatic DNA se-quencing .Results Pathologic SLC26A4 mutations were identified in 23 out of 137 patients ,and in 23 out of 119 bi-lateral deafness ,mutate rate were 16 .79% and 19 .33% ,respectively .SLC26A4 mutations were identified in 19 out of 20(95% ) patients with bilateral LVA .A total of 11 mutations were identified in the present study ,including 4 novel mutations (E29K(c .85G>A) ,R79X(c .235C> T) ,C282G(c .844T>G) ,V285I(c .853G>A) )and 7 repor-ted mutations .In the present study ,IVS7-2A>G was the most common mutation ,and was detected in 19 out of 23(82 .61% ) patients with SLC26A4 mutations .Conclusion SLC26A4 mutations ,the common reason for non -syndromic hearing loss ,were closely related with LVA .IVS7-2A>G was the most common mutation in SLC26A4 mutant .