291,507 results match your criteria: "Harvard Medical School; Shriners Children's Boston; basakuygun@mgh.harvard.edu.[Affiliation]"

Examining Concurrent Associations Between Gesture Use, Developmental Domains, and Autistic Traits in Toddlers With Down Syndrome.

J Speech Lang Hear Res

January 2025

Down Syndrome Program, Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, MA.

Purpose: Toddlers with Down syndrome (DS) showcase comparable or higher rates of gestures than chronological age- and language-matched toddlers without DS. Little is known about how gesture use in toddlers with DS relates to multiple domains of development, including motor, pragmatics, language, and visual reception (VR) skills. Unexplored is whether gesture use is a good marker of social communication skills in DS or if gesture development might be more reliably a marker of motor, language, pragmatics, or VR skills.

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Lysosomal storage diseases (LSDs) comprise ~50 monogenic disorders marked by the buildup of cellular material in lysosomes, yet systematic global molecular phenotyping of proteins and lipids is lacking. We present a nanoflow-based multiomic single-shot technology (nMOST) workflow that quantifies HeLa cell proteomes and lipidomes from over two dozen LSD mutants. Global cross-correlation analysis between lipids and proteins identified autophagy defects, notably the accumulation of ferritinophagy substrates and receptors, especially in and mutants, where lysosomes accumulate cholesterol.

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Hypoxia as a medicine.

Sci Transl Med

January 2025

Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.

Oxygen is essential for human life, yet a growing body of preclinical research is demonstrating that chronic continuous hypoxia can be beneficial in models of mitochondrial disease, autoimmunity, ischemia, and aging. This research is revealing exciting new and unexpected facets of oxygen biology, but translating these findings to patients poses major challenges, because hypoxia can be dangerous. Overcoming these barriers will require integrating insights from basic science, high-altitude physiology, clinical medicine, and sports technology.

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The Satisfaction With Life Scale (SWLS) is a widely used self-report measure of subjective well-being, but studies of its measurement invariance across a large number of nations remain limited. Here, we utilised the Body Image in Nature (BINS) dataset-with data collected between 2020 and 2022 -to assess measurement invariance of the SWLS across 65 nations, 40 languages, gender identities, and age groups (N = 56,968). All participants completed the SWLS under largely uniform conditions.

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Cell fate decisions, such as proliferation, differentiation, and death, are driven by complex molecular interactions and signaling cascades. While significant progress has been made in understanding the molecular determinants of these processes, historically, cell fate transitions were identified through light microscopy that focused on changes in cell morphology and function. Modern techniques have shifted towards probing molecular effectors to quantify these transitions, offering more precise quantification and mechanistic understanding.

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Bacterial sexually transmitted diseases (STDs) remain prominent in the United States among gay, bisexual, and other men who have sex with men (GBMSM). Doxycycline for post-exposure prophylaxis (DoxyPEP) is a regimen by which the antibiotic doxycycline is taken after sex to prevent bacterial STDs, such as, chlamydia, gonorrhea, and syphilis. Despite this, this study was conducted because there are a limited number of publications that describe GBMSM's knowledge of, and interest in, taking DoxyPEP and preferences regarding its implementation.

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Importance: A substantial number of individuals worldwide experience long COVID, or post-COVID condition. Other postviral and autoimmune conditions have a female predominance, but whether the same is true for long COVID, especially within different subgroups, is uncertain.

Objective: To evaluate sex differences in the risk of developing long COVID among adults with SARS-CoV-2 infection.

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Importance: There has been a great deal of interest in mild traumatic brain injury (mTBI) and posttraumatic stress disorder (PTSD) and their association with one another, yet their interaction and subsequent associations with long-term outcomes remain poorly understood.

Objective: To compare the long-term outcomes of mTBI that occurred in the context of psychological trauma (peritraumatic context) with mTBI that did not (nonperitraumatic context).

Design, Setting, And Participants: This cohort study of post-9/11 US veterans used data from the Translational Research Center for Traumatic Brain Injury and Stress Disorders (TRACTS) study at the Veterans Affairs Boston Healthcare System, which began in 2009; the current study utilized data from baseline TRACTS visits conducted between 2009 and 2024.

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Supine Blood Pressure and Risk of Cardiovascular Disease and Mortality.

JAMA Cardiol

January 2025

Department of Medicine, Division of General Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.

Importance: Nocturnal hypertension while asleep is associated with substantial increases in risk of cardiovascular disease (CVD) and death. Whether hypertension while supine is a risk factor associated with CVD independent of seated hypertension remains unknown.

Objective: To investigate the association between supine hypertension and CVD outcomes and by hypertension treatment status.

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Mixed Results With Oral Antibiotics for Fracture-Related Infections.

JAMA Surg

January 2025

Adult & Child Center for Outcomes Research & Delivery Science (ACCORDS), University of Colorado, Anschutz Medical Center, Aurora.

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Depressive Symptoms and Amyloid Pathology.

JAMA Psychiatry

January 2025

Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology.

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Importance: Chronic obstructive pulmonary disease (COPD) is often undiagnosed. Although genetic risk plays a significant role in COPD susceptibility, its utility in guiding spirometry testing and identifying undiagnosed cases is unclear.

Objective: To determine whether a COPD polygenic risk score (PRS) enhances the identification of undiagnosed COPD beyond a case-finding questionnaire (eg, the Lung Function Questionnaire) using conventional risk factors and respiratory symptoms.

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Purpose: While the literature has addressed the implementation of oncofertility care at developed institutions, minimal advice exists for those seeking to build oncofertility programs in limited resource settings (LRS). Our research offers a promising conversation on establishing oncofertility care in such settings from the perspective of a practitioner working to establish care in Latin America. We propose practices that have the potential to significantly improve access to and quality of care in these challenging settings.

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Ependymoma (EPN) is a common form of brain tumor in children, often resistant to available cytotoxic therapies. Molecular profiling studies have led to a better understanding of EPN subtypes and revealed a critical role of oncogenes ZFTA-RELA fusion and EPHB2 in supratentorial ependymoma (ST-EPN). However, the immune system's role in tumor progression and response to therapy remains poorly understood.

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Background: Primary tumor thickness is important for prognosis of melanoma patients. To enhance prevention and quantify the true burden of melanoma, better understanding of thickness patterns and associated characteristics is crucial. Previous studies have been limited to report trends and address risk factors of thickness in specific melanoma subtypes in the Greek population.

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Psychiatric and existential distress are common and difficult-to-treat symptoms that are frequently encountered in the palliative care setting; current treatment options are limited in efficacy and tolerability. Psychedelic-assisted therapies (PAT) have gained public and scientific interest in their potential to induce rapid and effective reductions in psychiatric and existential distress in patients with serious medical illness, but remain available only in the research setting. Ketamine as a pharmacologic agent has a large body of evidence in the treatment of refractory depression.

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Background: The intrapartum period is critical for reducing maternal and perinatal morbidity and mortality. The WHO's Safe Childbirth Checklist (SCC) was designed as a reminder of the most critical, evidence-based practices (EBPs) to improve quality care and reduce preventable complications and deaths.

Objective: To assess the impact of SCC on birth attendant behavior and maternal and newborn health outcomes.

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A 73-year-old male with a history of incidentally diagnosed Paget disease of bone affecting the skull and left orbit 2 years prior presented with 3 months of vision loss, proptosis, and periorbital swelling of the OS. Examination showed best-corrected Snellen visual acuity of 20/150 in the affected eye, intact motility, 7 mm of relative proptosis, significant dilated and tortuous "corkscrew" conjunctival vessels, serous choroidal and retinal detachments, optic nerve hyperemia, and venous tortuosity and dilation. Although the bony lesions in the left orbit were stable from 1 year prior on imaging, the diagnostic angiogram demonstrated osseous blush and hypervascularity of the lesion.

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Background: Hypotensive episodes detected by 24-hour ambulatory blood pressure (BP) monitoring capture daily cumulative hypotensive stress and could be clinically relevant to cognitive impairment, but this relationship remains unclear.

Methods: We included participants from the Systolic Blood Pressure Intervention Trial (receiving intensive or standard BP treatment) who had 24-hour ambulatory BP monitoring measured near the 27-month visit and subsequent biannual cognitive assessments. We evaluated the associations of hypotensive episodes (defined as systolic BP drops of ≥20 mm Hg between 2 consecutive measurements that reached <100 mm Hg) and hypotensive duration (cumulative time of systolic BP <100 mm Hg) with subsequent cognitive function using adjusted linear mixed models.

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This review assesses the primary neuroimaging techniques used to evaluate Parkinson's disease (PD) - a neurological condition characterized by gradual dopamine-producing nerve cell degeneration. The neuroimaging techniques explored include positron emission tomography (PET), single-photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI). These modalities offer varying degrees of insights into PD pathophysiology, diagnostic accuracy, specificity by way of exclusion of other Parkinsonian syndromes, and monitoring of disease progression.

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Background: Graft selection is an important part of preoperative planning for anterior cruciate ligament reconstruction (ACLR). In addition, ACLR with the remnant preservation technique has recently gained attention due to potential benefit in bone-tendon healing, graft revascularization, and proprioceptive nerve remodeling. However, the ideal graft choice remains controversial, and there is limited research comparing autograft and allograft in ACLR with remnant preservation.

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