Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.

Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.

Preliminary application of MR diffusion weighted imaging in the diagnosing and evaluating therapeutic effect of autoimmune pancreatitis / 中华放射学杂志

Objective To investigate the role of DWI in differentiating autoimmune pancreatitis ( AIP) from pancreatic cancer ( PC) , and in the therapeutic effect evaluation of AIP.Methods DWI data of 26 cases with AIP , 29 cases with PC and 30 cases with normal pancreas ( NP ) were analyzed retrospectively.The distribution type and signal feature of lesions in cases with AIP or PC were evaluated by Chi-squared test.ADC values were measured and compared among 3 groups by Kruskal-Wallis test.ADC values of AIP and PC were analyzed by using ROC curve to determine the optimal threshold and diagnostic efficiency.ADC values were compared in AIP ( n=15 ) before and after steroid therapy by paired t test.Results Diffuse lesions were detected in 21 cases with AIP and 3 cases with PC, while focal lesions in 5 cases with AIP and 26 cases with PC (χ2 =27.64, P0.05).The median ADC values of AIP, PC and NP were 1.15 ×10 -3,1.35 × 10 -3 ,1.59 ×10-3 mm2/s, respectively; and the difference was statistically significant ( H=45.60, P <0.01).ROC analysis yielded an optimal ADC cutoff value of 1.255 ×10 -3 mm2/s (80.8% sensitivity, 79.3%specificity and 0.871 area under curve for the diagnosis of AIP ).ADC values of AIP ( n=15) were markedly increased from the baseline (1.10 ±0.19) ×10 -3 to (1.57 ±0.12) ×10 -3 mm2/s after steroid therapy (t=-10.14, P<0.01).Conclusions DWI may be useful for diagnosing and evaluating the effect of steroid therapy in AIP.ADC values of AIP were significantly lower than those of pancreatic cancer and normal pancreas.After steroid therapy , ADC values were markedly increased in AIP.

Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations / 南方医科大学学报

<p><b>OBJECTIVE</b>To discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.</p><p><b>METHOD</b>Enzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in 21-hydroxylase gene, and short tandem repeat (STR) typing was used to determine the sources of the mutations.</p><p><b>RESULTS</b>One CAH patient had two known mutations in 21-hydroxylase gene, namely the I2g and I172N mutations. The former mutation was inherited from the biological mother and the latter was not inherited.</p><p><b>CONCLUSION</b>The 9 common mutations of CAH are also the hotspots for new mutations.</p>

Imaging characteristics of autoimmune pancreatitis:MRI versus CT / 中华放射学杂志

ncreatic enlargement, MRI is comparable to CT.

Magnetic resonance imaging characteristics of autoimmune pancreatitis in middle-aged and elderly patients / 中华老年医学杂志

Objective To investigate magnetic resonance imaging(MRI) characteristics of autoimmune pancreatitis(AIP) in middle-aged and elderly patients. Methods MRI were performed in 17 middle-aged and elderly patients with AlP proved histopathologically or clinically. All clinical and MRI data were reviewed. Results Of 17 cases, MRI showed diffuse enlargement of the pancreas in 13 cases, and focal lesions in 4 cases. Swelled pancreas was hypointense on T1-weighted images, mildly hyperintense on T2-weighted images, decreased enhancement on artery phase of dynamic imaging, and moderate enhancement on delayed phase images. Capsule-like enhanced rim was found around swelled pancreas in 13 patients. Stricture of distal common bile duct was present in 15 patients, and diffuse irregular narrowing of the main pancreatic duct was showed in 5 cases. The mean apparent diffusion coefficient(ADC) value of AIP was 1.64×10~(-3) mm~2/s in 13 cases. Conclusions AIP occurs more often in middle-aged and elderly people. AIP shows some characterized MRI findings including swelled pancreas looking like banana or sausage, delayed enhanced capsule-like rim around the lesion and diffuse irregular narrowing of pancreatic duct. MRI will play an important role not only in the diagnosis of AIP, but also in evaluating curative effect of AIP.