The Zebrafish Retina and the Evolution of the Onecut-Mediated Pathway in Cell Type Differentiation.

() genes play an important role in the proper formation of retinal cells in vertebrates, in particular horizontal, retinal ganglion and amacrine cells. However, it is not fully known how the unique and combined action of multiple gene copies leads to the induction and differentiation of specific retinal cell types. To gain new insights on how genes influence retina formation, we have examined the developmental role of , and genes during eye formation in the non-mammalian vertebrate zebrafish .

Explainable brain age prediction: a comparative evaluation of morphometric and deep learning pipelines.

Brain age, a biomarker reflecting brain health relative to chronological age, is increasingly used in neuroimaging to detect early signs of neurodegenerative diseases and support personalized treatment plans. Two primary approaches for brain age prediction have emerged: morphometric feature extraction from MRI scans and deep learning (DL) applied to raw MRI data. However, a systematic comparison of these methods regarding performance, interpretability, and clinical utility has been limited.

Combination of intravenous immunoglobulin, oral prednisone, and methotrexate for managing scleromyxedema: case report and literature discussion.

The generalized and sclerodermic form of lichen myxedematosus, known as scleromyxedema (SMX), is a chronic mucinosis that manifests cutaneously and has multiple systemic comorbidities. There are few available treatment options and no established therapeutic guidelines. We describe a 48-year-old man who had intravenous immunoglobulins (IVIg), oral corticosteroids, and methotrexate (MTX) for the treatment of SMX, monoclonal gammopathy, and arthritis.

Multi-Drone Cooperation for Improved LiDAR-Based Mapping.

This paper focuses on mission planning and cooperative navigation algorithms for multi-drone systems aimed at LiDAR-based mapping. It aims at demonstrating how multi-UAV cooperation can be used to fulfill LiDAR data georeferencing accuracy requirements, as well as to improve data collection capabilities, e.g.

Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.

Background: RASopathies are genetic syndromes affecting development and having variable cancer predisposition. These disorders are clinically related and are caused by germline mutations affecting key players and regulators of the RAS-MAPK signaling pathway generally leading to an upregulated ERK activity. Gain-of-function (GOF) mutations in PTPN11, encoding SHP2, a cytosolic protein tyrosine phosphatase positively controlling RAS function, underlie approximately 50% of Noonan syndromes (NS), the most common RASopathy.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8.

Breast Cancer Incidence Among Asian American Women in New York City: Disparities in Screening and Presentation.

Background: Asian American (AsAm) women have some of the lowest rates of up-to-date breast cancer screening, and lack of disaggregated racial/ethnic data can mask disparities. We evaluated presentation patterns among AsAms at two hospitals with distinct communities: New York Presbyterian-Queens (NYPQ), in Flushing, Queens and Weill Cornell Medical Center (WCM), on the Upper East Side (UES) neighborhood of Manhattan.

Patients And Methods: Patients with newly diagnosed breast cancer between January 2019 and December 2022 were identified using a prospective database and clinical data collected.

Psychosocial well-being during the COVID-19 pandemic among women with and without breast cancer.

Objective: Treatment delays in combination with general social distancing practices to reduce transmission may have negative impacts on the mental health of women with breast cancer who may need more social and emotional support. We sought to elucidate the psychosocial effects of the COVID-19 pandemic among women with and without breast cancer in New York City.

Methods: We conducted a prospective cohort study among women aged 18+ across the spectrum of breast health care at New York Presbyterian (NYP)-Weill Cornell, NYP-Brooklyn Methodist Hospital and NYP-Queens.

Breast Cancer and Obesity: a Qualitative Analysis of a Diverse Population of Breast Cancer Patients' Perspectives on Weight Management.

Purpose: Obesity and weight gain in breast cancer survivors leads to a greater risk of recurrence and a decreased chance of survival. A paucity of data exists regarding strengths, weaknesses, and barriers for implementing culturally sensitive, patient-centered interventions for weight management among minority communities. The objective of this study was to evaluate breast cancer patients' experience and perspectives regarding weight management in a racially diverse population.

Survival Outcomes in Women with Unilateral, Triple-Negative, Breast Cancer Correlated with Contralateral Prophylactic Mastectomy.

Background: Despite increased utilization of contralateral prophylactic mastectomy (CPM), there is insufficient evidence that it improves survival in average-risk women with unilateral breast cancer. CPM may be of heightened interest to patients with triple negative breast cancer (TNBC) because these patients are more likely to have BRCA1 mutation-associated disease and are not candidates for the chemoprevention benefits of adjuvant endocrine therapy.

Methods: Survival and recurrence outcomes were evaluated for all TNBC patients from a multi-institutional database (1999-2018) at two academic cancer programs in two metropolitan cities of the Northeast and Midwest.

To Keep or Not to Keep? The Hamletic Umbilical Dilemma: Preservation versus Reconstruction of the Umbilicus in Vertical Abdominoplasty.

(1) Background: The role of the umbilical scar and its repositioning remains one of the most important surgical steps in the execution of any type of abdominoplasty, including those involving "inverted-t" or "fleur de lys" incisions. A consequence of this is a surgeon's Hamletic dilemma: to keep or not to keep the original umbilical scar? (2) Methods: A retrospective observational study was conducted on all patients undergoing "T-inverted" abdominoplasty at the Department of Plastic Surgery of the Santa Maria alle Scotte University Hospital, Siena, between January 2018 and December 2020. Twelve months after the surgery we submitted to all patients the U-score questionnaire about their feelings about their umbilicus's appearance.

A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.

Current genetic modification and phenotyping methods in teleost fish allow detailed investigation of vertebrate mechanisms of development, modeling of specific aspects of human diseases and efficient testing of drugs at an organ/organismal level in an unparalleled fast and large-scale mode. Fish-based experimental approaches have boosted the in vivo verification and implementation of scientific advances, offering the quality guaranteed by animal models that ultimately benefit human health, and are not yet fully replaceable by even the most sophisticated in vitro alternatives. Thanks to highly efficient and constantly advancing genetic engineering as well as non-invasive phenotyping methods, the small zebrafish is quickly becoming a popular alternative to large animals' experimentation.

Roller Speed Skating Kinematics and Electromyographic Analysis: A Methodological Approach.

Roller speed skating is a discipline similar to hockey and ice skating from a biomechanical point of view, but there are no specific functional protocols for rehabilitation and performance improvement for these athletes. The aim of the study is to create a dedicated functional, kinematic and electromyographic protocol to be used as a tool for future studies on the subject. The protocol was created, starting from a correct and repeatable movement as a case study, on a world speed skating champion, using an inertial sensor positioned at the level of the first sacral vertebra, eight electromyographic probes positioned on one or the other lower limb, and a high-definition camera at 50 Hz.

Disparities in Time to Treatment for Breast Cancer: Existing Knowledge and Future Directions in the COVID-19 Era.

Purpose Of Review: Despite significant advances in detection and treatment for breast cancer, the breast cancer mortality rate for Black women remains 40% higher than that for White women. Timely work-up and treatment improve outcomes, yet no gold standard exists for which to guide providers.

Recent Findings: A large body of literature demonstrates disparities in time to treatment for breast cancer, and most studies show that Black women receive treatment later than their White counterparts.

Breast Cancer Disparities and the Digital Divide.

Purpose Of Review: Socioeconomically disadvantaged populations and minority groups suffer from high breast cancer mortality, a disparity caused by decreased access to specialty care, lower treatment adherence, co-morbidities, and genetic predisposition for biologically aggressive breast tumor subtypes. Telehealth has the potential to mitigate breast cancer disparities by increasing access to specialty care and health information. However, unequal access to high-speed/broadband internet service and telehealth itself magnifies breast cancer disparities in vulnerable populations.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Vesicle biogenesis, trafficking and signaling via Endoplasmic reticulum-Golgi network support essential developmental processes and their disruption lead to neurodevelopmental disorders and neurodegeneration. We report that de novo missense variants in ARF3, encoding a small GTPase regulating Golgi dynamics, cause a developmental disease in humans impairing nervous system and skeletal formation. Microcephaly-associated ARF3 variants affect residues within the guanine nucleotide binding pocket and variably perturb protein stability and GTP/GDP binding.

Fractional Q-Switched 1064 nm Laser for Treatment of Atrophic Scars in Asian Skin.

Asian patients with Fitzpatrick skin type III-IV are a less studied subtype of patients in the medical literature. Q-Switched, 1064 nm neodymium-doped yttrium aluminum garnet (Nd: YAG) laser with a fractionated beam profile (QSF) is a new modality that was reported to be effective in the treatment of scars. This study aims to evaluate the efficacy and safety of QSF Nd: YAG laser in treating scars in Asian patients.

Leveraging Electronic Health Records to Address Breast Cancer Disparities.

Purpose Of Review: Breast cancer is the most commonly diagnosed cancer in women, and the leading cause of cancer death. However, racial and ethnic minority groups, as well as rural and underserved populations, face disparities that limit their access to specialty care for breast cancer. To address these disparities, health care providers can leverage an electronic health record (EHR).

The Brachioplasty: An Original Technique: Improving Aesthetic Outcomes in Arm Lift Procedures.

(1) Background: The increase in the number of bariatric surgery procedures has led plastic surgeons to look for new approaches to improve outcomes of body-contouring surgeries. A major concern in brachioplasty is the scarring process. Here, we propose a novel technique to minimize the incidence of pathological or unsatisfactory scars from brachioplasty.

Breast Cancer Disparities and the COVID-19 Pandemic.

Purpose Of Review: The COVID-19 pandemic has placed unprecedented challenges on breast cancer patients and health care providers. The impact of the pandemic on preexisting breast cancer disparities remains unknown but is projected to have adverse outcomes.

Recent Findings: Early work has demonstrated that pandemic-related temporary suspensions in breast cancer screening, interruption of clinical trials, and treatment delays have an adverse impact on breast cancer patient outcomes and may worsen disparities.

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.

The variety in the display of animals' cognition, emotions, and behaviors, typical of humans, has its roots within the anterior-most part of the brain: the forebrain, giving rise to the neocortex in mammals. Our understanding of cellular and molecular events instructing the development of this domain and its multiple adaptations within the vertebrate lineage has progressed in the last decade. Expanding and detailing the available knowledge on regionalization, progenitors' behavior and functional sophistication of the forebrain derivatives is also key to generating informative models to improve our characterization of heterogeneous and mechanistically unexplored cortical malformations.

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding genes underlie several human diseases characterized by an extremely variable clinical phenotype, ranging from isolated neurodevelopmental/neurodegenerative disorders to syndromic phenotypes belonging to a family of conditions collectively termed as 'ciliopathies.

Impact of the COVID-19 breast cancer screening hiatus on clinical stage and racial disparities in New York City.

Background: The impact of the COVID-19 mammography screening hiatus as well as of post-hiatus efforts promoting restoration of elective healthcare on breast cancer detection patterns and stage distribution is unknown.

Methods: Newly diagnosed breast cancer patients (2019-2021) at the New York Presbyterian (NYP) Hospital Network were analyzed. Chi-square and student's t-test compared characteristics of patients presenting before and after the screening hiatus.