Intellectual disability, occurring in 1%-3% of the general population, is a common disease of the nervous system in children. Since diverse genetic and environmental factors contribute to its pathogenesis, the etiological diagnosis of intellectual disability is challenging with respect to the selection of diagnostic tests. It is important to determine the etiology of intellectual disability for the assessment of prognosis, treatment and the family plan. This paper summarizes the research progress in etiology and diagnosis for intellectual disability and introduces the recommended clinical genetics diagnostic approach from the American Academy of Pediatrics.
Chromosome Banding ; High-Throughput Nucleotide Sequencing ; Humans ; Intellectual Disability ; diagnosis ; etiology ; genetics ; Microarray Analysis

Reports of influenza A virus infections in dogs has received considerable attention from veterinarians, virologists, and epidemiologists. Interaction between influenza viral hemagglutinin and cell oligosaccharides containing sialic acid residues results in infection. Sialic acids have an alpha-2,3-linkage to the penultimate galactose in the avian influenza virus receptor and an alpha-2,6-linkage in the human receptor. To date, there are no detailed data on the tissue distribution or histological features of either type of sialic acid-linked influenza virus receptors in beagle dogs, which are common laboratory animals and pets. We conducted the current study to visualize the in situ tissue distribution of both sialic acid-linked influenza virus receptors in various organs of beagle dogs using Maackia amurensis lectin II and Sambucus nigra agglutinin. Both alpha-2,3- and alpha-2,6-sialic acid-linked receptors were detected in the endothelial cells of the respiratory tract and other organs. Endothelial cells of most gastrointestinal organs were negative for alpha-2,3-sialic acid-linked receptors in the dogs. Our results suggested that these canine organs may be affected by influenza virus infection. The findings from our study will also help evaluate the occurrence and development of influenza virus infections in dogs.
Animals ; Dog Diseases/metabolism ; Dogs/metabolism/*virology ; Female ; Influenza A Virus, H5N1 Subtype/*metabolism ; Maackia/chemistry ; Male ; N-Acetylneuraminic Acid/metabolism ; Organ Specificity ; Orthomyxoviridae Infections/metabolism/transmission/veterinary ; Plant Lectins/metabolism ; Receptors, Cell Surface/analysis/chemistry/metabolism ; Receptors, Virus/analysis/chemistry/*metabolism ; Sambucus nigra/chemistry

OBJECTIVETo investigate the changes of antisperm antibodies (AsAb), sexual hormones, and inhibin B (INH B) in patients before and after testicular torsion, as well as the effects of these factors on testicular function and reproduction.

METHODSTen patients with single acute testicular torsion (left side 9 and right side 1), aged 16-45 years (19.6 on average), disease course of 3-6 days (averaging 4.7 days), underwent surgical removal of the damaged testis. Before and after the operation, serum AsAb (IgG, IgM, IgA) and INH B were measured by ELISA, and serum follicle-stimulating hormone (FSH), luteotropic hormone (LH), and testosterone (T) determined by chemoluminescence autoanalyzer.

RESULTSAfter the operation, the AsAb levels rose significantly and remained high for at least 26 weeks. The level of INH B was the lowest in the 3rd week and restored to normal in the 12th week, with significant difference between preoperation and the 3rd or the 6th week after the operation. The levels of LH and INH B in the 26th week were elevated significantly compared with the 6th.

CONCLUSIONTesticular injury induced the elevation of AsAb, which would last a very long time. The change of INH B was closely related with the injury of the testis, which reflected the degree of testicular injury and functional restoration of the patients after the operation. Our study showed that AsAb and INH B can be used as useful tools for monitoring testicular function and reproduction.

Adolescent ; Adult ; Autoantibodies ; blood ; Follicle Stimulating Hormone ; blood ; Humans ; Inhibins ; blood ; Luteinizing Hormone ; blood ; Male ; Middle Aged ; Orchiectomy ; Spermatic Cord Torsion ; immunology ; physiopathology ; surgery ; Spermatozoa ; immunology ; Testis ; physiopathology ; Testosterone ; blood

OBJECTIVETo understand the environmental risk factors on attempted suicide in patients with major depression, and to study the interaction between factors as single nucleotide polymorphism(SNP) of TPH2 gene rs7305115 associated to attempted suicide in major depression.

METHODSPaired case-control study on 215 suicide attempters with major depression (92 male, 123 female) and molecular biological techniques were used to study the relation between TPH2 gene rs7305115 SNP,interrelated environmental factors and the rate of attempted suicide. Controls were paired with cases according to the same gender, similar age (no more than 3 years) and from the same district.

RESULTSThere were remarkably significant differences in gene types and gene frequency between case and control groups (P < 0.001). Data from multivariate conditional logistic regression model analysis showed that hopelessness, negative life-events and family history of suicide were relationship of attempted suicide in patients with major depression with OR values as 0.33 (95% CI: 0.22-0.99), 7.68 (95% CI: 5.79-13.74), 6.64 (95% CI: 2.48-11.04), 2.98 (95% CI: 1.17-5.04) respectively. There was no first level interaction between any of the two risk factors.

CONCLUSIONResults from the study supported the idea that hopelessness, negative life-events and family history of suicide were risk factors of attempted suicide in major deprbssion while TPH2 gene rs7305115 A/A might be the protective factor.

Case-Control Studies ; China ; epidemiology ; Depressive Disorder, Major ; genetics ; psychology ; Humans ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors ; Suicide, Attempted ; psychology ; statistics & numerical data ; Tryptophan Hydroxylase ; genetics

OBJECTIVETo investigate the serum level of carboxy-terminal telopeptide of type I collagen (ICTP) and explore its correlation with MMP-2 and MMP-9 in patients with coronary artery disease (CHD).

METHODSA total of 103 CHD patients treated in our hospital between October, 2013 and May, 2014 were enrolled, including 39 with stable angina pectoris (SAP), 39 with unstable angina (UA), and 25 with acute myocardial infarction (AMI), with 38 non-CHD volunteers as the control group. The serum levels of ICTP, MMP-2, and MMP-9 were detected in all the subjects using enzyme-linked immunosorbent assay (ELISA).

RESULTSNo significant difference in serum levels of MMP-2, MMP-9, or ICTP was found between the control and SAP groups or between UA and AMI groups (P>0.05), but the latter two groups had significantly higher serum levels of MMP-2, MMP-9, and ICTP than the former two groups (P<0.05). Serum ICTP level was found to negatively correlated with the fibrotic area and positively with the lipid component in the plaques (P<0.05). Regression analysis revealed significant positive correlations of serum ICTP with MMP-2 and MMP-9 (P<0.05).

CONCLUSIONAn elevated serum ICTP level is indicative of the presence of unstable plaques in CHD patients. Serum ICTP is more strongly correlated with MMP-2 than with MMP-9, and can be used as a non-invasive marker for assessing vulnerable plaques in patients with acute coronary syndrome.

Acute Coronary Syndrome ; Angina Pectoris ; Angina, Unstable ; Biomarkers ; blood ; Case-Control Studies ; Collagen Type I ; blood ; Coronary Artery Disease ; blood ; Enzyme-Linked Immunosorbent Assay ; Humans ; Matrix Metalloproteinase 2 ; blood ; Matrix Metalloproteinase 9 ; blood ; Myocardial Infarction