Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.

Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.

Multi-omic analyses of a twin pair with mirror image cleft lip identifies pathogenic variant in modified by differential methylation upstream of .

Background: Disturbances in the intricate processes that control craniofacial morphogenesis can result in birth defects, most common of which are orofacial clefts (OFCs). Nonsyndromic cleft lip (nsCL), one of the phenotypic forms amongst OFCs, has a non-random laterality presentation with the left side being affected twice as often compared to the right side. This study investigates the etiology of nsCL and the factors contributing to its laterality using a pair of monozygotic twins with mirror-image cleft lip.

DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability.

Objective: Van der Woude Syndrome (VWS) presents with combinations of lip pits (LP) and cleft lip and/or cleft palate (CL/P, CPO). VWS phenotypic heterogeneity even amongst relatives, suggests that epigenetic factors may act as modifiers. causal for 70% of VWS cases, and interact in a regulatory loop coordinating epithelial proliferation and differentiation in palatogenesis.

Case report of Zika virus during controlled ovarian hyperstimulation: results from follicular fluid, cumulus cells and oocytes.

We describe a case of a 37-year-old female, indicated for fertilisation. She developed skin rash on her trunk and limbs, during the treatment. RT-PCR results were positive in her blood and negative in her husband's blood and semen.

Comparison of two sperm processing techniques for low complexity assisted fertilization: sperm washing followed by swim-up and discontinuous density gradient centrifugation.

Objective: This study aimed to assess and compare sperm motility, concentration, and morphology recovery rates, before and after processing through sperm washing followed by swim-up or discontinuous density gradient centrifugation in normospermic individuals.

Methods: Fifty-eight semen samples were used in double intrauterine insemination procedures; 17 samples (group 1) were prepared with sperm washing followed by swim-up, and 41 (group 2) by discontinuous density gradient centrifugation. This prospective non-randomized study assessed seminal parameters before and after semen processing.

Postmortem sperm retrieval for in vitro fertilization treatment: care to be taken - a Brazilian case report.

Postmortem sperm retrieval has been used worldwide in assisted reproduction technology. Nevertheless, the laws vary from country to country according to cultural, ethical and religious reasons. However, for postmortem sperm retrieval to be used, it is necessary that a preview informed consent be signed by the couple.

Efficacy of sperm motility after processing and incubation to predict pregnancy after intrauterine insemination in normospermic individuals.

Background: Intrauterine insemination (IUI) is widely used to treat infertility, and its adequate indication is important to obtain good pregnancy rates. To assess which couples could benefit from IUI, this study aimed to evaluate whether sperm motility using a discontinuous gradient of different densities and incubation in CO2 in normospermic individuals is able to predict pregnancy.

Methods: A total of 175 couples underwent 175 IUI cycles.

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.

Teebi hypertelorism syndrome: additional cases.

We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.