Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and treatment outcomes of cardiovascular system involvement in children with methylmalonic aciduria combined with hyperhomocysteinemia (MMACHC).</p><p><b>METHODS</b>The clinical data of 10 children with methylmalonic aciduria combined with hyperhomocysteinemia and who had cardiovascular system involvement were retrospectively analyzed and the treatment outcomes were followed up.</p><p><b>RESULTS</b>In the 10 patients, there were 4 cases with initial presentations of cardiovascular system symptoms such as shortness of breath and dyspnea, 3 cases with urinary tract symptoms such as edema, hematuria and proteinuria, and 3 cases with nervous system symptoms such as developmental retardation and convulsions. The 10 patients had different types and severity of cardiovascular injuries. After 3 months to 8 years of follow-up, the congenital heart defects resolved naturally in 2 cases, and the patient with arrhythmia had no obvious changes. In 5 cases of hypertension, blood pressures recovered to normal in 3 cases, and 1 case was lost to follow-up. In 5 patients with pulmonary hypertension, 2 died, 2 recovered, and 1 case had mildly elevated pulmonary artery pressure. Seven patients underwent MMACHC gene testing, and 5 showed c.80A>G mutations.</p><p><b>CONCLUSIONS</b>Metabolic disease should be taken into account for the children with unexplained pulmonary hypertension and hypertension with the onset of the shortness of breath and dyspnea. The severity of cardiovascular system involvement might be one of the most important factors affecting the prognosis of children with MMACHC. Cardiavascular system involvement of the patients may be related to MMACHC c.80A>G mutations.</p>

Variety of corneal endothelial cell in glaucoma by confocal microscope / 国际眼科杂志(Guoji Yanke Zazhi)

ATM: To define the causes of corneal endothelial cell damage, to investigate the preventive methods, and to observe the variety of corneal endothelial cell in glaucoma using confocal microscope. METHODS: Totally, 143 eyes of 97 patients with different types of glaucoma, and matched normal people were 20 cases, all 40 eyes. The cell density, cell area and cell variable coefficient were measured used confocal microscope. These indicatives of every kind of glaucoma were compared. RESULTS: The corneal endothelial cell density of normal group was 2 893. 88±255. 026/mm2 , the group of acute angle-closure glaucoma ( AACG ) was 1 674. 11±683.95/mm2 , and the group of open angle glaucoma (OAG) was 2687. 22±391. 87/mm2, the group of chronic angle-closure glaucoma (CACG) was 2706. 97±351. 27/mm2. In all index the average cell density of corneal endothelial and the average area have statistical significance ( F =62.950, 8. 795;P=0. 000), especially the group of AACG.CONCLUSION: The index of corneal endothelial cell in AACG is lower than that of normal. All index in OAG and CACG is difference with that of normal, but the difference has no statistical significance. And the dominant factor of damaged corneal endothelial is the time of intraocular hypertension.

Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Buckler corneal dystrophy (RBCD).</p><p><b>METHODS</b>Four patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out. Exon 14 was also sequenced in 100 healthy controls.</p><p><b>RESULTS</b>A G to A transition at codon 623 in all affected members was identified. This mutation resulted in a substitution of glycine (GGC) to aspartic acid (GAC) at the protein level.None of the healthy family members, or any of the 100 control subjects carried this mutation.</p><p><b>CONCLUSION</b>The G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time.</p>

A research on TGFBI gene mutations in Chinese families with corneal dystrophies / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify what kind of TGFBI gene mutation happening to Chinese patients with corneal dystrophies.</p><p><b>METHODS</b>Three Chinese families with stromal corneal dystrophies and one Chinese family with Thiel-Behnke corneal dystrophies were studied, of whom three were Han race and another was Mongolia race in China. All members of families were examined clinically and their genomic DNAs were extracted from blood leukocytes. Thirteen exons in TGFBI gene were amplified by polymerase chain reaction (PCR) and directly sequenced for molecular analysis.</p><p><b>RESULTS</b>Mutations in TGFBI gene were detected from all the patients with corneal dystrophy, but not found in normal subjects of families. The mutation R555W was found and identified from the family with granular corneal dystrophy; R555Q from the family with Thiel-Behnke corneal dystrophy; and R124H from the other two families with Avellino corneal dystrophy.</p><p><b>CONCLUSION</b>The above study results show that the amino acids R124 and R555, if their genetic codes result from the mutations, play an important role in the pathogenesis of autosomal dominant corneal dystrophy of Chinese patients, and the molecular genetic analysis can improve the accuracy of diagnosing corneal dystrophy. In China, the mutation R555Q found in the family with Thiel-Behnke corneal dystrophy is reported for the first time.</p>

Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the genetic defect causing automosal dominant congenital cataracts (ADCC) with nuclear opacities in a Chinese pedigree.</p><p><b>METHODS</b>Linkage analysis was carried out with the short tandem repeat polymorphisms flanking the candidate genes. Mutation analysis of the candidate gene in the critical region was performed to detect the potential mutation.</p><p><b>RESULTS</b>The cataract locus in this pedigree was mapped to 17q11.1-12, an 11.78 cM interval between markers D17S933 and D17S 1288. By means of sequencing the candiate gene, betaA1-crystallin (CRYBA1), a deletion mutation DeltaG91 in exon 4 was detected. This change cosegregated with the patients in the family but was not found in 50 normal unrelated individuals.</p><p><b>CONCLUSION</b>It is a deletion mutation DeltaG91 of CRYBA1 gene that causes autosomal dominant congenital nuclear cataract. This is the first report of an autosomal dominant congenital nuclear cataract caused by the mutation in this gene.</p>