Child ; Humans ; Hyperhomocysteinemia ; genetics ; Male

Animals ; Female ; Gangliosides ; pharmacology ; Hippocampus ; enzymology ; physiopathology ; Lead ; toxicity ; Learning ; drug effects ; Male ; Memory ; drug effects ; Nitric Oxide Synthase ; biosynthesis ; Random Allocation ; Rats ; Rats, Sprague-Dawley

Aldehyde Oxidoreductases ; deficiency ; Child, Preschool ; Female ; Humans ; Metabolism, Inborn Errors ; diagnosis ; enzymology ; metabolism ; Succinate-Semialdehyde Dehydrogenase ; gamma-Aminobutyric Acid ; metabolism

Humans ; Infant, Newborn ; Male ; Poland Syndrome

OBJECTIVE To investigate whether the KCNN4 gene and KPTN gene contribute to a Chinese non-syndromic hearing loss pedigree linked to DFNA4 with positional candidate approach. METHODS The complete coding region of the two genes were amplified with polymerase chain reaction (PCR), and bidirectional sequencing of the PCR products was subsequently applied in the 36 family members to identify the possible mutations or polymorphisms in the candidate genes. RESULTS Sequence analysis of coding regions and splice sites of the two candidate genes in 36 members including 12 hearing-impaired individuals in family Z002 failed to demonstrate any deafness-causing mutations of KCNN4 gene. There was one heterozygous mutation identified in exon10 coding sequence (942C/T) of KPTN gene, which did not result in amino acid change (P302P) as a repoerted synonymous SNP site (rs2293424). This SNP site did not cosegregate with the phenotype of family Z002. CONCLUSION Our study excluded the two candidates, KCNN4 and KPTN , as the causative genes involved in this Chinese DFNA4 pedigree.

Objective: To observe the alteration of type-　 Ⅰ collagen protein gene expression after arterial injury and investigate its effect on the development of restenosis. Methods: Firstly, thee xperimental carotid arterial injury rabbit model was constructed. Then, Norther n blot, in situ hybridization and histomorphometric analysis were used to de tect the expression of procollagen mRNA and the accumulation of collagen protein 1,2,4 weeks after injury. Results: Type-　Ⅰ collag en mRNA increased 1 week after injury, peaked 2 weeks later and decreased 4 week s later. The deposition of the collagen protein account for a high percentage o f space in neointima on histomorphometric analysis. Conclusion: Collagen protein may play an important role in the development of neointima and restenosis.

Objective: To assess the effect of balloon angiopl asty on circulating endothelin (ET) and TNF-α levels and tissue endothelin in experimental atherosclerosis in rabbits. Methods: After 20 New Z ealand rabbits had a high cholesterol diet for at least 8 weeks, successful ball oon angioplasty was performed in rihgt iliac arteries in 18 rabbits. Circulatin g levels of ET and TNF-α were measured before as well as immediately and 24 h after balloon angioplasty. Tissue endothelin immunoreactivity in atherosclerotic iliac artery wall after balloon angioplasty was assessed by immunohistochemica l technique. Results: Plasma levels of ET and TNF-α were signi ficantly increased immediately after ballon angioplasty (76.40±13.58)pg/ml vs (92.67±11.38) pg/ml and (31.35±6.23) U/ml vs (56.26±7.37) U/ml, resp ectively (P<0.05) .There was no change in plasma ET and TNF-α levels 24 h after balloon angioplasty (77.13±12.87) pg/ml vs (76.40±13.58) pg/ml and (33.41±6.79) U/ml vs (31.35±6.23) U/ml， respectively (P>0.05). T issue endothelin immunoreactiuvity was markedly increased in right iliac artery wall after balloon angioplasty than that in opposite iliac artery wall. Conclusion: The increase of plasma ET, TNF-α levels and tissue ET-IR in iliac artery wall after balloon angioplasty may be associated with the injury of l ocal vascular intima, suggesting that ET and TNF-α may take part in the corona ry constriction and the development of coronary restenosis after percutaneous tr ansluminal coronary angioplasty.

Cryptococcosis ; etiology ; pathology ; Glycogen Storage Disease Type I ; complications ; pathology ; Humans ; Infant ; Male ; Meningitis, Fungal ; etiology ; pathology

Progressive familial intrahepatic cholestasis type I (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient definitely diagnosed by ATP8B1 genetic analysis. The patient, a boy aged 14 months, was referred to the hospital with the complaint of jaundiced skin and sclera over 10 months. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. On physical examination, hepatosplenomegaly was discovered in addition to jaundice of the skin and sclera. The liver was palpable 4 cm below the right subcostal margin and 2 cm below the xiphoid while the spleen 2 cm below the left subcostal margin. The liver function test revealed elevated levels of serum total bile acids, bilirubin, and transaminases; however, the γ-glutamyl transferase level was normal. The diagnosis was genetic cholestasis of undetermined origin. At the age of 1 year and 8 months, a Roux-en-Y cholecystocolonic bypass operation was performed, and thereafter the jaundice disappeared. At 5 years and 1 month, via whole genome sequencing analysis and Sanger sequencing confirmation, the boy was found to be a homozygote of mutation c.2081T>A(p.I694N) of ATP8B1 gene, and thus PFIC1 was definitely diagnosed. The boy was followed up until he was 6 years, and jaundice did not recur, but the long-term outcome remains to be observed.
Adenosine Triphosphatases ; genetics ; Cholestasis, Intrahepatic ; genetics ; DNA Mutational Analysis ; Humans ; Infant ; Male ; Mutation ; Sequence Analysis, DNA

UNLABELLEDOBJECTIVE To observe the clinical efficacy by Qingying Huoxue Decoction (QHD) combined ursodeoxycholic acid (UDCA) in treating patients with early and mid-term primary biliary cirrhosis (PBC). METHODS Totally 78 patients were randomly assigned to the treatment group and the control group, 39 in each group. All patients received basic treatment and took UDCA (at the daily dose of 13-15 mg/kg). Patients in the treatment group took QHD, one dose per day. The treatment course for all was 6 weeks. Clinical efficacy, gamma-glutamyl transferase (γ-GGT), alkaline phospatase (ALP), TBIL, alanine aminotransferase (ALT), and aspartate transaminase (AST) were observed before and after treatment. RESULTS Totally 21 (53. 8%) patients obtained complete response in the treatment group, with statistical difference when compared with that of the control group (11 cases, 30. 8%). Levels of GGT, ALP, ALT, AST, and TBIL decreased in the two groups after treatment (P < 0.01). Levels of ALP, GGT, and TBIL were obviously lower in the treatment group than in the control group (P < 0.05).

CONCLUSIONSQHD combined UDCA in treating early and mid-term PBC patients was superior to the effect of using UDCA alone. It also could improve patients' liver function.

Alanine Transaminase ; metabolism ; Aspartate Aminotransferases ; metabolism ; Drug Combinations ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Liver Cirrhosis, Biliary ; drug therapy ; Ursodeoxycholic Acid ; therapeutic use ; gamma-Glutamyltransferase ; metabolism