Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. Conclusions: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS

Vertebral artery variations revised: origin, course, branches and embryonic development

Background: The vertebral artery originates from the subclavian artery and is divided into four segments. The aim of this study is to investigate the anatomical variations in the course and branches of the vertebral artery. Materials and methods: A research was performed via PubMed database, using the terms: “variations of vertebral artery AND cadaveric study”, “variations of vertebral artery AND cadavers” and “anomalies of vertebral artery AND cadavers”. Results: A total of 24 articles met the inclusion criteria, 13 of them referring to variations of the origin of the vertebral artery, 9 to variations of the course and 3 to variations of its branches. On a total sample of 1192 cadavers of different populations, origin of the left vertebral artery directly from the aortic arch was observed at 6.7%. In addition, among 311 cadavers, 17.4% were found with partially or fully ossified foramen of the atlas for the passage of the vertebral artery, while the bibliographic review also showed variants at the exit site of the artery from the transverse foramen of the axis. Conclusions: Despite the fact that variations of both the course and the branches of vertebral artery are in most cases asymptomatic, good knowledge of anatomy and its variants is of particular importance for the prevention of vascular complications during surgical and radiological procedures in the cervix area

Evidence of a causal and modifiable relationship between kidney function and circulating trimethylamine N-oxide

The host-microbiota co-metabolite trimethylamine N-oxide (TMAO) is linked to increased cardiovascular risk but how its circulating levels are regulated remains unclear. We applied "explainable" machine learning, univariate, multivariate and mediation analyses of fasting plasma TMAO concentration and a multitude of phenotypes in 1,741 adult Europeans of the MetaCardis study. Here we show that next to age, kidney function is the primary variable predicting circulating TMAO, with microbiota composition and diet playing minor, albeit significant, roles. Mediation analysis suggests a causal relationship between TMAO and kidney function that we corroborate in preclinical models where TMAO exposure increases kidney scarring. Consistent with our findings, patients receiving glucose-lowering drugs with reno-protective properties have significantly lower circulating TMAO when compared to propensity-score matched control individuals. Our analyses uncover a bidirectional relationship between kidney function and TMAO that can potentially be modified by reno-protective anti-diabetic drugs and suggest a clinically actionable intervention for decreasing TMAO-associated excess cardiovascular risk

The use of tissue adhesive for skin closure in body contouring surgery

Background: Abdominoplasty and mammoplasty are cosmetic surgeries that demand relatively more time for skin closure. Methods: Skin closure with 4.0 Mononylon (Ethicon, Summerville, NJ, USA) continuous subcuticular suture and with Dermabond (Ethicon, USA) (octylcyanoacrylate) was compared among 37 patients who had undergone body contouring surgery (23 abdominoplasties and 14 mammoplasties). Each side of the scar, randomly selected, was closed either with adhesive or suture. the time required for skin closure and the aesthetic aspect of these scars were compared. Three observers evaluated the scars at 3, 6, and 12 months postoperatively using a categorical and a modified visual analog scale. Results: the average time for closure using suture was 7 min and 45 s for the abdominoplasty and 4 min and 25 s for the vertical incision of the mammoplasty. This was significantly different statistically, as compared with the 2 min required for polymerization of the skin adhesive. the mammoplasty and abdominoplasty scars showed, no statistical difference at 3, 6, and 12 months according to both scales. Conclusions: the aesthetic aspects of the mammoplasty and abdominoplasty scars were similar on both sides at 3, 6, and 12 months. However, the adhesive allowed a shorter surgical time.Universidade Federal de São Paulo, EPM, Disciplina Cirurgia Plast, BR-04024002 São Paulo, BrazilUniversidade Federal de São Paulo, EPM, Disciplina Cirurgia Plast, BR-04024002 São Paulo, BrazilWeb of Scienc

Vertebral artery variations revised: Origin, course, branches and embryonic development

Background: The vertebral artery originates from the subclavian artery and is divided into four segments. The aim of this study is to investigate the anatomical variations in the course and branches of the vertebral artery. Materials and methods: A research was performed via PubMed database, using the terms: "variations of vertebral artery AND cadaveric study", "variations of vertebral artery AND cadavers"and "anomalies of vertebral artery AND cadavers". Results: A total of 24 articles met the inclusion criteria, 13 of them referring to variations of the origin of the vertebral artery, 9 to variations of the course and 3 to variations of its branches. On a total sample of 1192 cadavers of different populations, origin of the left vertebral artery directly from the aortic arch was observed at 6.7%. In addition, among 311 cadavers, 17.4% were found with partially or fully ossified foramen of the atlas for the passage of the vertebral artery, while the bibliographic review also showed variants at the exit site of the artery from the transverse foramen of the axis. Conclusions: Despite the fact that variations of both the course and the branches of vertebral artery are in most cases asymptomatic, good knowledge of anatomy and its variants is of particular importance for the prevention of vascular complications during surgical and radiological procedures in the cervix area. © 2021 Via Medica