Identification of a novel c.2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.@*METHODS@#Variant analysis of the ADAR gene was carried out by Sanger sequencing.@*RESULTS@#Patient 1 was found to harbor a c.2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c.2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.@*CONCLUSION@#The c.2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.

Identification of a novel c. 2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

Objective@#To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.@*Methods@#Variant analysis of the ADAR gene was carried out by Sanger sequencing.@*Results@#Patient 1 was found to harbor a c. 2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c. 2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.@*Conclusion@#The c. 2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.

Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the application of preimplantation genetic diagnosis (PGD) for infantile malignant osteopetrosis (IMO).</p><p><b>METHODS</b>For a family affected with IMO, PGD was provided using combined parental mutation detection and haplotype constructions with microsatellite markers spanning the TCIRG1 gene. Prenatal diagnosis was performed on the chorionic villus and amniocentesis samples by direct sequencing.</p><p><b>RESULTS</b>Prenatal diagnosis showed that the fetus by the third pregnancy has carried the parental mutations [c.242delC (p.Pro81Argfs*85) and c.1114C>T (p.Gln372*)], and the pregnancy was terminated. PGD was subsequently performed through mutations detection and haplotype analyses following whole genome amplification (WGA) of each of 13 cells. The results showed that 6 of the 13 embryos were unaffected, 3 were carriers and 4 were affected. Well developed unaffected/carrier embryos were selected and transferred into the uterus. A single pregnancy was confirmed. Subsequently pre- and post-natal diagnoses have confirmed development of a healthy child.</p><p><b>CONCLUSION</b>The study demonstrated the advantage of PGD over prenatal diagnosis when natural pregnancies have repeatedly produced IMO children/fetuses.</p>

Comparison of clinical outcomes of vitrified-thawed embryo transfer and fresh embryos transfer / 中华流行病学杂志

Objective To understand the clinical outcomes of frozen embryo transfer and fresh embryo transfer.Methods A retrospective analysis was conducted on the clinical data of 870 cases receiving embryo transfer at the Reproductive Medical Center of Sun Yat-Sen Memorial Hospital from January 2013 to March 2014,including 577 cases of in vitro fertilization and fresh embryo transfer,118 cases of intracytoplasmic sperm injection and fresh embryo transfer and 175 cases of frozen thawed embryo transfer,to compare the clinical characteristics and outcomes between fresh embryo transfer group and frozen embryo transfer group (the patients who had received unsuccessful fresh embryo transfer).The frozen embryo transfer group was divided into pregnant subgroup and non pregnant subgroup to further comparison.Binary logistic regression analyses was performed to identify the influencing factors of pregnancy.Results The implantation rate and clinical pregnancy rate were significantly lower in frozen embryo transfer group than in fresh embryo transfer group (26.27％ vs.31.98％,P=0.01 and 47.43％ vs.65.18％,P＜0.001).The differences in abortion rate,biochemical pregnancy rate and fetal birth weight had no statistical significance between the two groups (P=0.63,P=0.17 and P=0.33).The difference in age between pregnant subgroup and non pregnant subgroup was statistical significant (30.69 ± 3.37 years vs.32.00 ± 5.09 years,P=0.03),but no significant differences were found in BMI,duration of infertility and basic endocrine between the two subgroups.Binary logistic regression analysis showed that receiving frozen embryo transfer or not (P＜0.001),wife's age (P＜0.001),BMI (P=0.011) and number of top quality embryos (P＜0.001) were influencing factors of pregnancy.Conclusion Lower implantation rate and clinical pregnancy rate was observed in the patients in frozen embryo transfer group,who had received unsuccessful fresh embryo transfer,but no increase of abortion rate,influence on fetal birth weight and adverse pregnancy outcome were observed.

Sialendoscopic findings in patients with obstructive sialadenitis: long-term experience.

During a 9-year period from October 2002 to October 2011, 561 patients with swelling in the submandibular gland (n=474) and parotid gland (n=87) were successfully studied using sialendoscopy, and the features and pathological changes of the duct evaluated and recorded. Abnormalities were noted in 552/561 cases (98%), and normal features in 9 (2%). The pathological changes in 467 submandibular glands were identified both endoscopically and radiographically, and endoscopic findings showed 3 types: sialolith (n=423, 91%), mucus plug (n=15, 3%), and stenosis (n=29, 6%). In 12 cases foreign bodies (fish bones) were found fixed in calculi. In 85 parotid glands the main pathological finding in the duct was stenosis (n=64, 75%, mucus plug (n=12, 14%), and sialolith (n=9, 11%). Several microstructures had been found on sialendoscopy, including sublingual opening, a basin-like structure in the hilar region, a sphincter phenomenon, and hyperplasia. Sialendoscopy can give direct information about the salivary duct, and in some cases indicate the possible mechanism of obstruction.

Indexes used to evaluate the disease activity of Sjögren's syndrome / 华西口腔医学杂志

Sjögren's syndrome (SS) is a systemic autoimmune disease that mainly affects the exocrine glands. A set of indexes have been established to evaluate the disease activity in SS, including symptoms, systemic characteristics, and long-term disease damage as well as the patients' quality of life. This article briefly introduced the background, content, and scoring rules of SS indexes. Current clinical applications and prospects were also reviewed.