Incidence of left atrial appendage thrombus despite 3 weeks of anticoagulation and the need for precardioversion echocardiography.

BACKGROUND: One of the most catastrophic complications of Atrial fibrillation (AF) is thromboembolic stroke. Current guidelines recommend that 3 weeks of anticoagulation is adequate prior to direct current cardioversion (DCCV) to prevent thromboembolism. Here we present data regarding, which anticoagulant is most likely to show a presence of an Left atrial appendage thrombus (LAAT) on trans esophageal echocardiogram (TEE) for DCCV despite 3 weeks of anticoagulation. OBJECTIVE: To investigate the effectiveness of both vitamin k antagonist (VKA) and direct oral anticoagulants (DOAC) in patients with AF as an anticoagulant for LAAT after 3 weeks of medication. METHODS: This is a single-high volume tertiary center, where TEE precardioversion is the standard practice. We reviewed data over 10 months where DCCV was intended on individuals with AF who were fully anticoagulated for at least 3 weeks with either a VKA or taking a DOAC. RESULTS: The data showed a statistical difference between patients who were fully anticoagulated for at least 3 weeks with VKA in comparison to DOACs. Patients on DOACs are significantly less likely to have an LAAT after at least 3 weeks of anticoagulation. OR = 0.04 (CI 95% 0.005-0.42; p-value < .05). Despite anticoagulation for at least 3 weeks, 40% of our patients still had a LAAT. CONCLUSION: Our data indicates that all patients should be required to undergo a TEE prior to DCCV. This data also adds to the current evidence and supports the use of DOAC in AF to prevent LAAT.

Clinical evaluation and quantitative analysis of axillary hyperhidrosis treated with a unique targeted laser energy delivery method with 1-year follow up.

BACKGROUND: Primary Focal Axillary Hyperhidrosis (PHH) is a chronic disorder of excessive underarm sweat that causes significant impairment of an individual's daily activities. Multiple studies have established the psychosocial burden of PHH and its negative impact on quality of life. Current first-line therapies include the use of topical aluminum chloride with limited efficacy. Second line therapy includes the use of Botulinum toxin, which is effective, but duration is limited to 6-7 months. OBJECTIVE: The purpose was to evaluate the long term efficacy and safety of the Nd:YAG 1440 nm wavelength with a unique delivery fiber (SideLaze) and the Smartlipo TriPlex device (Cynosure Inc). METHODS: Fifteen subjects were recruited to an approved Institutional Review Board study. Outcome measures were comprised of clinical and quantitative evaluation of functional impairment. This included HDSS scale, physician and subject evaluation, and digital photography of before and after starch iodine tests utilizing image processing and analysis software. Subjects received a single treatment and were evaluated at 1 week and at 3, 6, and 12 months post treatment. Responders were defined as those that scored an HDSS score of 1 or 2 post-treatment. Those that were non-responsive at 6 months received a second treatment. RESULTS: All patients responded to treatment with 72% reporting a two-point HDSS score improvement and 28% reporting a 1-point improvement at 1-year follow-up. The average HDSS score improvement was 1.9/3.0. Three of the 15 patients at 6 months received a second treatment. The HDSS average score for all patients remained statistically stable at 1-year follow-up. CONCLUSIONS: Treatment of axillary hyperhidrosis with the 1440 nm Nd:YAG-pulsed laser combined with a targeted fiber and temperature-sensing device provides a safe and minimally invasive approach to the treatment of axillary hyperhidrosis with minimal side effects and long-term efficacy.

Postnatal brain and skull growth in an Apert syndrome mouse model.

Craniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for AS using the Fgfr2(+/P253R) Apert syndrome mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three-dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2(+/P253R) mice and unaffected littermates at P0 (N = 28) and P2 (N = 20).Three-dimensional coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2(+/P253R) mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other.

Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes.

BACKGROUND: The brain develops in concert and in coordination with the developing facial tissues, with each influencing the development of the other and sharing genetic signaling pathways. Autism spectrum disorders (ASDs) result from alterations in the embryological brain, suggesting that the development of the faces of children with ASD may result in subtle facial differences compared to typically developing children. In this study, we tested two hypotheses. First, we asked whether children with ASD display a subtle but distinct facial phenotype compared to typically developing children. Second, we sought to determine whether there are subgroups of facial phenotypes within the population of children with ASD that denote biologically discrete subgroups. METHODS: The 3dMD cranial System was used to acquire three-dimensional stereophotogrammetric images for our study sample of 8- to 12-year-old boys diagnosed with essential ASD (n = 65) and typically developing boys (n = 41) following approved Institutional Review Board protocols. Three-dimensional coordinates were recorded for 17 facial anthropometric landmarks using the 3dMD Patient software. Statistical comparisons of facial phenotypes were completed using Euclidean Distance Matrix Analysis and Principal Coordinates Analysis. Data representing clinical and behavioral traits were statistically compared among groups by using χ2 tests, Fisher's exact tests, Kolmogorov-Smirnov tests and Student's t-tests where appropriate. RESULTS: First, we found that there are significant differences in facial morphology in boys with ASD compared to typically developing boys. Second, we also found two subgroups of boys with ASD with facial morphology that differed from the majority of the boys with ASD and the typically developing boys. Furthermore, membership in each of these distinct subgroups was correlated with particular clinical and behavioral traits. CONCLUSIONS: Boys with ASD display a facial phenotype distinct from that of typically developing boys, which may reflect alterations in the prenatal development of the brain. Subgroups of boys with ASD defined by distinct facial morphologies correlated with clinical and behavioral traits, suggesting potentially different etiologies and genetic differences compared to the larger group of boys with ASD. Further investigations into genes involved in neurodevelopment and craniofacial development of these subgroups will help to elucidate the causes and significance of these subtle facial differences.

Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synostosis) or bilateral (bicoronal synostosis). Brain dysmorphology associated with AS is thought to be secondary to cranial vault or base alterations, but the variation in brain phenotypes within Apert syndrome is unexplained. Here, we present novel three-dimensional data on brain phenotypes of inbred mice at postnatal day 0 each carrying one of the two Fgfr2 mutations associated with AS. Our data suggest that the brain is primarily affected, rather than secondarily responding to skull dysmorphogenesis. Our hypothesis is that the skull and brain are both primarily affected in craniosynostosis and that shared phenogenetic developmental processes affect both tissues in craniosynostosis of Apert syndrome.