OBJECTIVE: A case of half sibling was determined with multiple genetic markers, which could be potentially applied for determination of half sibling relationship from same father. METHODS: Half sibling relationship was detected by 39 autosomal STR genetic markers, 23 Y-chromosomal STR genetic markers and 12 X -chromosomal STR genetic markers among ZHAO -1, ZHAO -2, ZHAO -3, ZHAO -4, and ZHAO-5. RESULTS: According to autosomal STR, Y-STR and X-STR genotyping results, it was determined that ZHAO-4 (alleged half sibling) was unrelated with ZHAO-1 and ZHAO-2; however, ZHAO-3 (alleged half sibling), ZHAO-5 (alleged half sibling) shared same genetic profile with ZHAO-1, and ZHAO-2 from same father. CONCLUSION It is reliable to use multiple genetic markers and family gene reconstruction to determine half sibling relationship from same father, but it is difficult to determination by calculating half sibling index with ITO and discriminant functions.
Alleles ; Chromosomes, Human, Y/genetics* ; Discriminant Analysis ; Gene Frequency ; Genetic Loci/genetics* ; Genetic Markers ; Genotype ; Humans ; Paternity ; Siblings

Child ; Ectodermal Dysplasia ; diagnosis ; genetics ; Family Health ; Genes, Recessive ; genetics ; Humans ; Male ; Sex Factors

Objective To investigate and analyze the clinical and imageological features of skull base erosion in nasopharyngeal carcinoma( NPC). Methods 67 NPC patients proved by pathology were retrospectively reviewed. All patients underwent both CT and MRI plain plus enhancement scan. Scan slices were performed from oral pharynx (lower border of second cervical vertebra) to suprasellar cistern by axial CT scans and axial, sagittal and coronal MRI scans. Results (1) 52 patients with skull base erosion were found with MRI, and only 35 patients with CT. The following structures and figures were difined with CT and MRI respectively: pterygoid plates 8,14; clivus 22,25 ; petrous apex 25 ,28 ; sphenoid body or sinus 19,25; sphenoid wing 9, 12; cavernous sinus 14,17. The display difference between CT and MRI had statistical significance ( x2= 9. 47 , P = 0. 02). (2) CT- defined skull base erosion was most bone destruction , however, not only bone destruction but also tumor crossing skull base structure could be defined by MRI. (3) The incidence of headache was 82.7% (43/52) , cranial nerve palsy was 67. 3% (35/52) , both headache and cranial nerve palsy was 57. 7% (30/52). Conclusion Headache and cranial nerve palsy are primary characteristics of the skull base erosion in NPC. MRI is superior to CT in defining both bone erosion and brain tissue abnormality.

Objective To describe the genetic epidemiologic features of alopecia areata (AA) patients in China and to presume the possible genetic mo del of AA.Methods A case-controlled study of 1032 AA patients was performed to analyze the effect of genetic factors on the liability to AA.Complex segreg ation and heritability analysis were performed using Falconer's method and SAGE-REGTL programs.Results The mean age of onset was 28.98 ? 13.43 years.The d ifference in the mean age of onset was not significant between males and females.A total of 82.6 percent of patients experienced their first episode of AA befo re the fourth decades of life.A positive family history of AA was obtained in 8 7 patients (8.43%).The prevalences of AA were 1.58%,0.19% and 0.03% in the firs t-,second-and third-degree relatives of the probands respectively,which were significantly higher than those in the controls(P

OBJECTIVETo evaluate antifungal combination strategy in children with hematologic diseases and invasive fungal disease( IFD).

METHODSA retrospective clinical study was performed based on 67 childhood patients with hematologic diseases and IFD who firstly accepted combination antifungal therapy for ≥ 7 days during January 2012 and December 2014. Of them, 11 cases received combination of echinocandin with azole, 10 cases received combination of echinocandin with amphotericin B, and 46 cases received combination of azole with amphotericin B.

RESULTSOverall response rate was 79.1%. Univariate analysis revealed that granulocyte recovery (P=0.031), status of underling disease (P=0.023) and the duration of the therapy (P=0.046) were significantly associated with efficacy. Multivariate analysis showed that the independent prognostic factor was the duration of combination antifungal therapy (OR=0.229, 95% CI 0.061- 0.863, P=0.029). The response rates of echinocandin combined with azole, echinocandin combined with amphotericin B and azole combined with amphotericin B were 81.8%, 60.0% and 82.6%, respectively (P>0.05), and 12-week survival rates were 81.8%, 80.0% and 86.5%, respectively (P>0.05). The drug- related adverse reactions occurred 59 times in 34 patients. BUN increasing, hypokalemia and abnormal liver functions were considered the main side effects.

CONCLUSIONFor IFD in children with hematologic disease, to extend the duration of treatment (≥ 14 days) could significantly improve the curative effect. Combinations of echinocandin with azole, echinocandin with amphotericin B and azole with amphotericin B can be used as a combination treatment options. Combination of Azole with amphotericin B is efficacious, safe and economic treatment option considering efficacy, survival rate, cost and dosage form.

Amphotericin B ; administration & dosage ; therapeutic use ; Antifungal Agents ; administration & dosage ; therapeutic use ; Child ; Drug Therapy, Combination ; Echinocandins ; administration & dosage ; therapeutic use ; Hematologic Diseases ; microbiology ; Humans ; Mycoses ; drug therapy ; Retrospective Studies ; Survival Rate ; Treatment Outcome

Adult ; Female ; Humans ; Hypopigmentation ; diagnosis ; metabolism

【Objective】To evaluate the efficacy of three different methods of subcostal transversus abdominis plane（TAP）block for patients undergoing open liver carcinoma resection.【Methods】A total of 60 adult patients，undergoing elective open liver carcinoma resection through a“reverse L”incision below the rib bow，were enrolled. The subjects were randomly divided into three groups（20 cases in each），including Group A，B and C，according to the position of local anesthetic injection. All patients underwent ultrasound- guided bilateral subcostal TAP block under local anesthesia. The TAP injection was injected at the middle line of the clavicle in Group A；Two separate injections were at the parasternal line and at the anterior axillary line in Group B；Multiple injections were proformed between the anterior median line and the middle axillary line in Group C. After completion of TAP block，the onset time，duration，blocking extent，hemodynamics and abdominal muscle thickness were evaluated. The operating time of TAP block and incidence of complications were recorded.【Results】The blocking extent of Group B or Group C was greater than that of Group A（P < 0.05），with no significant difference between Group B and Group C. The duration of TAP block in Group B or Group C was longer than that of Group A，while the onset time was not significantly different between the three groups. The mean arterial pressure and heart rate during laparotomy were higher than the base value in Group A，while there were no evident changes in Group B and Group C. The rectus abdominis became thinner after TAP block in all patients，but there was no significant difference in muscle thickness change among the three groups. The operating time of TAP block in the three groups was （8.4±1.9），（13.8±3.1），（23.3±4.2）min，respectively，with significant difference between any two groups（P < 0.05）. None of the patients enrolled showed such complications as local anesthetic poisoning，abdominal wall hematoma，nerve injury， abdominal viscera injury，and puncture point infection.【Conclusion】The outcome of subcostal TAP block for patients undergoing open liver surgery is related to injecting position of anesthetics. Two- point-injection method is superior to one- point-injection method or multiple-point-injection method，for adequate analgesic extent as well as less operating time.

ObjectiveTo analyze the characteristics of the pattern of inhalant and food allergens in patients with allergic rhinitis （AR） by gender in Guangzhou. MethodsBy collecting the results of serum allergen specific IgE （sIgE） test of 7 284 suspected AR patients visiting the ENT outpatient in the Third Hospital of SunYat-sen University from 2016 to 2020. The characteristics of the pattern of inhalant and food allergens in definite AR patients， especially the gender difference in allergen pattern， was compared. ResultsA total of 5 980 patients were confirmed as AR with a 82.10% positive rate （95%CI=81.22%， 82.98%） in allergen serum sIgE test. The mean age of male patients was 19.01±13.17 vs. 23.67±13.40 in female. The mean age of female patients was older than that of the male patients （P<0.001）. Compared with the female patients， the positive rate was higher in the male AR patients （83.35% vs. 80.61%， P<0.05）. The common inhalant allergens in Guangzhou were house dust mites （78.93%）， house dust （17.71%） and mold groups （17.16%）， and milk （20.45%）， cashew nut （20.35%） and crab （18.28%） were the common food allergens. The positive rates of house dust mites and dog dander were higher in males than those in females （all of P<0.05）， while the positive rate of mold groups was higher in females than that in males （P<0.001）. The positive rates of egg， milk， shrimp， beef， crab and cashew nut were higher in male patients than those of the female patients （all of P<0.05）. In minor group， the positive rate of inhalant allergen serum sIgE was higher in males （93.25%） than that in females （90.25%， P<0.05）， while the positive rate of food allergen serum sIgE was higher in adult male patients （54.66%） than that in the adult female patients （49.23%， P=0.002）. ConclusionsThere exist significant difference by gender in the positive rates of allergen among house dust mites， mold groups， dog dander， egg， milk， shrimp， beef， crab and cashew nut. Adult male AR patients seem to be more vulnerable to suffering from food allergy， suggesting the importance of the precise management for AR patients involving the gender characteristics.

【Objective】 To predict the functional mechanism and clinical significance of highly expressed maternal embryonic leucine zipper kinase(MELK) in lung adenocarcinoma and lung squamous cell carcinoma by bioinformatics. 【Methods】 The chip data set GSE7670 was obtained from the Gene Expression Omnibus(GEO) database and combined with the TCGA lung adenocarcinoma(LUAD) and lung squamous cell carcinoma(LUSC) database for differential analysis, and to screen out differential kinases(P < 0.05). GO biological function enrichment and KEGG pathway analysis of these kinases were performed. Based on String, a protein interaction network was obtained. MCODE plug-in of Cytoscape was applied to find key node proteins and then MELK kinase protein was picked out. MELK expression was analyzed through Oncomine database. Clinical information from TCGA database was obtained, and the relationship between MELK expression and clinicopathological characteristics, prognosis of LUAD and LUSC was analyzed. GeneMANIA was used to predict the function of MELK, and then to verify related co-expressed genes with GEPIA2. 【Results】 A total of 159 differential kinases were screened out, which were closely related to cell proliferation, apoptosis and various signal pathways. Twenty-one important genes were identified by analyzing protein interaction networks. MELK level was higher in male, young or advanced clinical stage lung adenocarcinoma and lung squamous cell carcinoma. The patients with high MELK levels had a shorter progression-free survival(PFS) and overall survival(OS) in LUAD, but there was no significant difference in LUSC. MELK was involved in G2/M transition possibly and was co-expressed with proliferation-related genes (MKI67, PCNA, CCNB1, MCM2, and TOP2A) in LUAD and LUSC. 【Conclusions】 MELK is highly expressed in LUAD and LUSC. MELK may be involved in the occurrence and development of LUAD by promoting cell mitosis and G2/M transition. MELK could be a new biomarker for LUAD.

INTRODUCTIONAn increasing number of targeted drugs have been tested for the treatment of nasopharyngeal carcinoma (NPC). However, targeted therapy-related oncogenic mutations have not been fully evaluated. This study aimed to detect targeted therapy-related oncogenic mutations in NPC and to determine which targeted therapy might be potentially effective in treating NPC.

METHODSBy using the SNaPshot assay, a rapid detection method, 19 mutation hotspots in 6 targeted therapy-related oncogenes were examined in 70 NPC patients. The associations between oncogenic mutations and clinicopathologic factors were analyzed.

RESULTSAmong 70 patients, 12 (17.1%) had mutations in 5 oncogenes: 7 (10.0%) had v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) mutation, 2 (2.8%) had epidermal growth factor receptor (EGFR) mutation, 1 (1.4%) had phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutation, 1 (1.4%) had Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation, and 1 (1.4%) had simultaneous EGFR and v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations. No significant differences were observed between oncogenic mutations and clinicopathologic characteristics. Additionally, these oncogenic mutations were not associated with tumor recurrence and metastasis.

CONCLUSIONSOncogenic mutations are present in NPC patients. The efficacy of targeted drugs on patients with the related oncogenic mutations requires further validation.

Carcinoma ; Class I Phosphatidylinositol 3-Kinases ; Humans ; Mutation ; Nasopharyngeal Neoplasms ; Neoplasm Recurrence, Local ; Oncogenes ; Pharmacogenetics ; Phosphatidylinositol 3-Kinases ; Proto-Oncogene Proteins B-raf ; Receptor, Epidermal Growth Factor