Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Aim: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.

Molecular and Clinical Epidemiology of SARS-CoV-2 Infection among Vaccinated and Unvaccinated Individuals in a Large Healthcare Organization from New Jersey.

New Jersey was among the first states impacted by the COVID-19 pandemic, with one of the highest overall death rates in the nation. Nevertheless, relatively few reports have been published focusing specifically on New Jersey. Here we report on molecular, clinical, and epidemiologic observations, from the largest healthcare network in the state, in a cohort of vaccinated and unvaccinated individuals with laboratory-confirmed SARS-CoV-2 infection.

Operative technique and management of central foot polydactyly.

Polydactyly is characterized by the manifestation of supernumerary digits in the hands and feet. It can be isolated or associated with a genetic syndrome. Based on the location of duplication, it is categorized as preaxial, postaxial, or central.

Surgical Treatment of Intercostal Brachial Nerve Pain after Mastectomy and Axillary Dissection.

Postmastectomy chronic pain describes chronic pain in the anterior aspect of the thorax, axilla, and/or upper half of the arm present after surgical treatment of breast cancer and persistent for more than 3 months. The most common cause of this syndrome is damage to the intercostal brachial nerve. Current methods of treatment include medications, physical therapy, and peripheral nerve blocks.

Musculoskeletal Pain Survey Outcomes in Cleft Surgeons and Orthodontists.

Objective: Determine prevalence and characteristics of musculoskeletal pain and pathology in cleft providers.

Design: An IRB-exempt survey based on previously validated surveys was administered. Data collected included demographics, practice description, musculoskeletal pain history, formal diagnoses, and interventions.

Management of Paronychia in Patients With Apert Syndrome.

Apert syndrome is a complex congenital syndrome that includes bicoronal craniosynostosis, craniofacial dysmorphologies, cleft palate, hearing loss, spina bifida occulta, cardiac anomalies, and affects the upper and lower extremities-producing complex syndactyly in these patients. Management of the hands yields several challenges and mandates close follow-up to balance repair of complex polysyndactyly with other pressing interventions, such as posterior cranial vault distraction and surgical management of the airway. Our goals of therapy for the hands are to preserve 10 digits, provide sufficient soft tissue coverage, optimize hand function, and minimize the number of surgical interventions.

A Report on the Representation of Women in Academic Plastic Surgery Leadership.

Background: The year 2017 marked the first year women comprised a majority of U.S. medical school matriculants.

LSD1 mediated changes in the local redox environment during the DNA damage response.

The redox state of the cell can be affected by many cellular conditions. In this study we show that detectable reactive oxygen species (ROS) are also generated in response to DNA damage by the chromatin remodeling factor and monoamine oxidase LSD1/KDM1A. This raised the possibility that the localized generation of hydrogen peroxide produced by LSD1 may affect the function of proximally located DNA repair proteins.

Assessment of the Effect of Autograft Orientation on Peripheral Nerve Regeneration Using Diffusion Tensor Imaging.

Purpose: Given no definite consensus on the accepted autograft orientation during peripheral nerve injury repair, we compare outcomes between reverse and normally oriented autografts using an advanced magnetic resonance imaging technique, diffusion tensor imaging.

Methods: Thirty-six female Sprague-Dawley rats were divided into 3 groups: sham-left sciatic nerve isolation without injury, reverse autograft-10-mm cut left sciatic nerve segment reoriented 180° and used to coapt the proximal and distal stumps, or normally oriented autograft-10-mm cut nerve segment kept in its normal orientation for coaptation. Animals underwent sciatic functional index and foot fault behavior studies at 72 hours, and then weekly.

Evaluation of a Nerve Fusion Technique With Polyethylene Glycol in a Delayed Setting After Nerve Injury.

Purpose: Polyethylene glycol (PEG) has been hypothesized to restore axonal continuity using an in vivo rat sciatic nerve injury model when nerve repair occurs within minutes after nerve injury. We hypothesized that PEG could restore axonal continuity when nerve repair was delayed.

Methods: The left sciatic nerves of female Sprague-Dawley rats were transected and repaired in an end-to-end fashion using standard microsurgical techniques at 3 time points (1, 8, and 24 hours) after injury.

Minocycline plus N-acteylcysteine induces remyelination, synergistically protects oligodendrocytes and modifies neuroinflammation in a rat model of mild traumatic brain injury.

Mild traumatic brain injury afflicts over 2 million people annually and little can be done for the underlying injury. The Food and Drug Administration-approved drugs Minocycline plus N-acetylcysteine (MINO plus NAC) synergistically improved cognition and memory in a rat mild controlled cortical impact (mCCI) model of traumatic brain injury. The underlying cellular and molecular mechanisms of the drug combination are unknown.

Prediction of Prolonged Ventilation after Coronary Artery Bypass Grafting: Data from an Artificial Neural Network.

Objectives: The need for mechanical ventilation 24 hours after coronary artery bypass grafting (CABG) is considered a morbidity by the Society of Thoracic Surgeons. The purpose of this investigation was twofold: to identify simple preoperative patient factors independently associated with prolonged ventilation and to optimize prediction and early identification of patients prone to prolonged ventilation using an artificial neural network (ANN).

Methods: Using the institutional Adult Cardiac Database, 738 patients who underwent CABG since 2005 were reviewed for preoperative factors independently associated with prolonged postoperative ventilation.

Flap Reconstruction for Pressure Ulcers: An Outcomes Analysis.

Background: Historically, complication rates after pressure ulcer reconstruction utilizing flap coverage have been high. Patients undergoing operations for pressure ulcer coverage typically have multiple risk factors for postoperative complications. The purpose of this study was to examine a large patient series in the pressure ulcer population to uncover objective evidence of the linkage between risk factors and outcomes after flap coverage.

New Innovations for Deep Partial-Thickness Burn Treatment with ACell MatriStem Matrix.

Burn injuries remain a large financial burden on the healthcare system. According to CDC statistics (2010), nonfatal and hospitalized burns in the U.S.

Mass spectrometry comparison of nerve allograft decellularization processes.

Peripheral nerve repair using nerve grafts has been investigated for several decades using traditional techniques such as histology, immunohistochemistry, and electron microscopy. Recent advances in mass spectrometry techniques have made it possible to study the proteomes of complex tissues, including extracellular matrix rich tissues similar to peripheral nerves. The present study comparatively assessed three previously described processing methods for generating acellular nerve grafts by mass spectrometry.

CD34 affinity pheresis attenuates a surge among circulating progenitor cells following vascular injury.

Background: Intimal hyperplasia (restenosis) is an exaggerated healing response leading to failure of half of vascular interventions. Increasing evidence suggests that circulating progenitor cells contribute to intimal pathology, and clinical studies have demonstrated a correlation between progenitor cells and the incidence of restenosis after cardiovascular interventions. The aims of this study were to characterize the temporal response of CD34+ progenitors following vascular injury in an ovine model and to evaluate an affinity pheresis approach to attenuate this response.

Duplex criteria for determination of in-stent stenosis after angioplasty and stenting of the superficial femoral artery.

Objective: Endovascular intervention is considered first-line therapy for most superficial femoral artery (SFA) occlusive disease. Duplex ultrasound (DU) criteria for SFA in-stent stenosis and correlation with angiographic data remain poorly defined. This study evaluated SFA-specific DU criteria for the assessment of SFA in-stent stenosis.

Outcomes of endovascular interventions for TASC II B and C femoropopliteal lesions.

Objective: To evaluate outcomes of endovascular interventions on femoropopliteal occlusive disease and determine predictors of restenosis of Trans Atlantic Inter-Societal Consensus (TASC) II B and C lesions.

Methods: All patients undergoing endovascular interventions for femoropopliteal occlusive disease between May 2003 and July 2007 were reviewed. Patient demographics, pre- and post-procedure ankle-brachial indices (ABI), and anatomic factors (including categorization by TASC II classification, lesion length, and runoff vessel status) were analyzed.