Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature.

BACKGROUND: Variants in the MYO7A gene commonly result in Usher syndrome, and in rare cases lead to autosomal dominant non-syndromic deafness (DFNA11). Currently, only nine variants have been reported to be responsible for DFNA11 and their clinical phenotypes are not identical. Here we present a novel variant causing DFNA11 identified in a three-generation Chinese family. CASE SUMMARY: The proband was a 53-year-old Han male who presented with post-lingual bilateral symmetrical moderate sensorineural hearing loss. We learned from the patient's medical history collection that multiple family members also had similar hearing loss, generally occurring around the age of 40. Subsequent investigation by high-throughput sequencing identified a novel MYO7A variant. To provide evidence supporting that this variant is responsible for the hearing loss in the studied family, we performed Sanger sequencing on 11 family members and found that the variant co-segregated with the deafness phenotype. In addition, the clinical manifestation of the 11 affected family members was found to be late-onset bilateral slowly progressive hearing loss, inherited in this family in an autosomal dominant manner. None of the affected family members had visual impairment or vestibular symptoms; therefore, we believe that this novel MYO7A variant is responsible for the rare DFNA11 in this family. CONCLUSION: We report a novel variant leading to DFNA11 which further enriches the collection of MYO7A variants, and our review of the nine previous variants that have been identified to cause DFNA11 provides a reference for clinical genetic counseling.

Effect of anemia and erythrocyte indices on hemoglobin A1c levels among pregnant women.

BACKGROUND: Anemia is a common disorder among pregnant women; however, the effect of anemia on hemoglobin A1c (HbA1c) levels has not been adequately explored. We aim to examine the influence of anemia on the HbA1c concentration and investigate the relationship between erythrocyte indices and HbA1c levels during pregnancy. METHODS: We performed a retrospective analysis of 1369 pregnant Chinese women. The clinical and analytical data were collected. Independent t-test and Analysis of Variance were used for comparative studies, and multiple linear regression analysis was used to identify the association between erythrocyte indices and HbA1c. RESULTS: The differences in HbA1c between non-anemia and mild anemia were negligible, and the differences in HbA1c between non-anemia and moderate anemia were well within the allowable variability for clinical practice (≥0.5% absolute changes). Mean corpuscular hemoglobin (MCH) correlated with HbA1c significantly, independent of pregnancy, trimester, and anemia. The distinction of HbA1c levels between grades of Hb became no significant (P = 0.955), while differences between trimesters persisted after adjusting for MCH. CONCLUSION: Mild and moderate anemia should not be the primary concern when using HbA1c to monitor blood glucose in pregnancy. MCH showed negative correlations with HbA1c independently, suggesting a previously unknown mechanism affecting HbA1c levels.

Cardiovascular dysfunction in offspring of ovarian-hyperstimulated women and effects of estradiol and progesterone: a retrospective cohort study and proteomics analysis.

CONTEXT: The cardiovascular dysfunction in children born with assisted reproductive technologies has been of great concern. However, the association of ovarian hyperstimulation syndrome (OHSS), a complication of assisted reproductive technologies, with worse cardiovascular functions and underlying mechanism remains unknown. OBJECTIVES: The objective of the study was to assess the cardiovascular functions of children born to mothers with OHSS and investigate the underlying regulator(s). DESIGN AND SETTING: This was a retrospective cohort recruited in a university hospital. PARTICIPANTS AND METHODS: We assessed the cardiovascular functions by Doppler echography in 42 children born to OHSS women, 34 children of mothers with non-OHSS in vitro fertilization, and 48 spontaneously conceived (SC) children (mean age ∼ 4.5 y). Groups were matched for gestational age at delivery and birth weight. An isobaric tag for relative and absolute quantitation-labeled proteomics analysis was performed with another set of umbilical arteries from OHSS and SC pregnancies (n = 3 for both groups). RESULTS: Children of OHSS mothers showed a significantly decreased mitral ratio of early to late mitral peak velocities, reduced systolic and diastolic diameters of common carotid arteries, and impaired flow-mediated dilation compared with non-OHSS in vitro fertilization and SC children. Intima-media thickness and arterial stiffness indices were similar in the three groups. In the proteomics study, 1640 proteins were identified from OHSS and SC umbilical arteries, and 40 differentially expressed proteins were selected for further analysis. Estradiol and progesterone were identified as activated upstream regulators. CONCLUSIONS: Children born to ovarian-hyperstimulated women displayed cardiovascular dysfunctions. The underlying mechanisms may involve the effects of supraphysiological estradiol and progesterone levels.