Genetic,environmental and epigenetic influences on variation in human tooth number,size and shape

The aim of this review is to highlight some key recent developments in studies of tooth number, size and shape that are providing better insights into the roles of genetic, environmental and epigenetic factors in the process of dental development. Advances in molecular genetics are helping to clarify how epigenetic factors influence the spatial and temporal regulation of the complex processes involved in odontogenesis. At the phenotypic level, the development of sophisticated systems for image analysis is enabling new dental phenotypes to be defined. The 2D and 3D data that are generated by these imaging systems can then be analysed with mathematical approaches, such as geometric morphometric analysis. By gathering phenotypic data and DNA from twins, it is now possible to use ‘genome-wide’ association studies and the monozygotic co-twin design to identify important genes in odontogenesis and also to clarify how epigenetic and environmental factors can affect this process. Given that many of the common dental anomalies affecting the human dentition are interrelated, apparently reflecting pleiotropic genetic effects, the discoveries and new directions described in this paper should have important implications for clinical dental practice in the future.     

Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center’s experience

Purpose

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disease characterized by capillary malformation leading to multisite cutaneomucosal telangiectasias and multiorgan arteriovenous malformations, which can present challenges to anesthetic care. The primary aim of this report is to present a large cohort of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia at our institution in regard to comorbid conditions and complications of surgical and anesthetic management.

Methods

A computerized search from January 1, 2002 through December 31, 2011 of the Mayo Clinic medical records database was performed for patients with hereditary hemorrhagic telangiectasia who underwent general anesthesia. Medical records were reviewed. Eligibility criteria included patients with definite or suspected hereditary hemorrhagic telangiectasia based on the Curacao diagnostic criteria who underwent general anesthesia during the study period.

Results

We identified 74 patients with hereditary hemorrhagic telangiectasia who underwent 163 surgeries. The majority had pulmonary arteriovenous malformations (56.7 %) and iron deficiency anemia (64.7 %), and high levels of disease burden with a median American Society of Anesthesiologist Physical Status score of 3. Most surgeries were related to treating conditions associated with hereditary hemorrhagic telangiectasia, with the majority being procedures to the nasal mucosa for recurrent epistaxis (47.2 %). A sizeable proportion of procedures to the nasal mucosa required transfusion of blood (12/77). One case of epistaxis required 11 units of blood until it was successfully controlled. Another notable complication included migration of a coil to pulmonary arteriovenous malformations into the cerebral circulation.

Conclusion

Surgical patients with hereditary hemorrhagic telangiectasia often present with multiorgan involvement. The anesthesia provider needs to be aware of the high prevalence of pulmonary arteriovenous malformations, which may be asymptomatic but can lead to embolic complications. Hemorrhage from epistaxis can be severe, and relatively focal procedures to the nasal mucosa can require blood transfusions.     

Long-term results of arthrodesis of the carpometacarpal joint of the thumb

We reviewed 48 arthrodeses of the carpometacarpal joint of the thumb in 39 patients being treated for osteoarthritis. The mean follow-up period was 90 months (range 14 months-17 years). In 28 (58%) hands pain relief was excellent and in 6 (12%) good. Mobility was significantly reduced ( p < 0.002). Mean key pinch (52.9 N) and grip strength (219.5 N) were comparable with the unoperated hand (51.0 and 239.1 N, respectively). Hand function was near normal. In 29 hands an additional operation was needed to remove the osteosynthesis material; 14 hands failed to unite. Osteoarthritis of the scaphotrapezial joint increased significantly faster in the operated hands than in the unoperated ones ( p < 0.0001). A soft tissue procedure (such as flexor carpi radialis interposition arthroplasty) is advised instead of arthrodesis, because of the large number of reoperations, based on non-union and removal of the osteosynthesis material. From a survey of published papers we conclude that arthrodesis of the carpometacarpal joint of the thumb can best be done by stapling and bone grafting.     

Coagulopathy,Venous Thromboembolism,and Anticoagulation in Patients with COVID-19

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to a worldwide pandemic, and patients with the infection are referred to as having COVID-19. Although COVID-19 is commonly considered a respiratory disease, there is clearly a thrombotic potential that was not expected. The pathophysiology of the disease and subsequent coagulopathy produce an inflammatory, hypercoagulable, and hypofibrinolytic state. Several observational studies have demonstrated surprisingly high rates of venous thromboembolism (VTE) in both general ward and intensive care patients with COVID-19. Many of these observational studies demonstrate high rates of VTE despite patients being on standard, or even higher intensity, pharmacologic VTE prophylaxis. Fibrinolytic therapy has also been used in patients with acute respiratory distress syndrome. Unfortunately, high quality randomized controlled trials are lacking. A literature search was performed to provide the most up-to-date information on the pathophysiology, coagulopathy, risk of VTE, and prevention and treatment of VTE in patients with COVID-19. These topics are reviewed in detail, along with practical issues of anticoagulant selection and duration. Although many international organizations have produced guidelines or consensus statements, they do not all cover the same issues regarding anticoagulant therapy for patients with COVID-19, and they do not all agree. These statements and the most recent literature are combined into a list of clinical considerations that clinicians can use for the prevention and treatment of VTE in patients with COVID-19.