1,973 results match your criteria: "Carney Syndrome"
Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.
Eur J Endocrinol
December 2024
Department of Pediatric Surgery and Urology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Objective: ACTH-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
View Article and Find Full Text PDF[Superficial angiomyxoma in the scrotum].
Medicina (B Aires)
December 2024
Servicio de Patología, Hospital Interzonal General de Agudos Gral. San Martín, La Plata, Buenos Aires, Argentina.
Superficial angiomyxoma is a benign neoplasm of mesenchymal origin that affects both sexes with a slight predilection for males. It can present in a solitary or multiple form, within the framework of the Carney complex, an autosomal dominant syndrome characterized by the triad: cutaneous and cardiac myxomas, skin pigmentation and endocrine overactivity. They occur more commonly in the head and neck, trunk and lower limbs; the location in the genital region and particularly in the scrotum is very unusual.
View Article and Find Full Text PDFEngineered bacteria that self-assemble bioglass polysilicate coatings display enhanced light focusing.
Proc Natl Acad Sci U S A
December 2024
Department of Biology, University of Rochester, Rochester, NY 14627.
Cutting-edge photonic devices frequently rely on microparticle components to focus and manipulate light. Conventional methods used to produce these microparticle components frequently offer limited control of their structural properties or require low-throughput nanofabrication of more complex structures. Here, we employ a synthetic biology approach to produce environmentally friendly, living microlenses with tunable structural properties.
View Article and Find Full Text PDFSolving the Global Opioid Crisis: Incorporating Genetic Addiction Risk Assessment with Personalized Dopaminergic Homeostatic Therapy and Awareness Integration Therapy.
J Addict Psychiatry
June 2024
Center for Exercise and Sport Mental Health, Western University Health Sciences, Pomona, USA.
Article Synopsis
- The opioid crisis has evolved into a global issue affecting various socioeconomic and cultural areas, with traditional treatment methods proving insufficient.
- A narrative review was conducted using multiple databases to explore the complex factors contributing to this epidemic, acknowledging the potential for bias in article selection.
- Despite some progress with Opioid Substitution Therapy, U.S. overdose deaths remain alarmingly high and are projected to increase; the authors suggest a need for a new treatment approach that targets brain neurotransmitter systems for better management.
Just In Time! Assessment of Internal Medicine Resident Point of Care Ultrasound (POCUS) Attitudes and Behaviors After Spaced Intervention at Two Residency Programs.
POCUS J
November 2024
Division of Hospital Medicine, University of Nebraska Medical Center Omaha, NE USA.
Article Synopsis
- Point of care ultrasound (POCUS) is an essential skill for medical residents, but effectively teaching it requires structured support and understanding of how spaced learning impacts skill acquisition.
- A study implemented just-in-time POCUS curricula during resident rotations and found significant improvements in personal and team POCUS usage and documentation habits among residents.
- The findings highlight that personal use of POCUS is connected to team use, and co-learning among residents plays an important role in enhancing POCUS skills and teamwork.
Pathologic diagnosis and molecular features of gastrointestinal stromal tumors: a mini-review.
Front Oncol
November 2024
Department of Hospital Pathology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Article Synopsis
- * About 80% of GISTs have mutations in KIT or PDGFRA that affect how they behave and respond to treatment; a special type called SDH-deficient GISTs is linked to certain genetic syndromes and presents different challenges.
- * The primary treatment involves surgery and the drug imatinib for advanced cases, but resistance to treatment is a major issue, particularly in kids and wildtype GISTs, highlighting the need for better therapies and personalized treatment approaches.
Markers of Endothelial Injury in Extracorporeal Membrane Oxygenation: A New Risk Assessment Method.
J Surg Res
December 2024
Firefighters' Burn and Surgical Research Laboratory, MedStar Health Research Institute, Washington, District of Columbia; Department of Biochemistry and Molecular & Cellular Biology, Georgetown University School of Medicine, Washington, District of Columbia; Department of Surgery, Georgetown University School of Medicine, Washington, District of Columbia; The Burn Center, Department of Surgery, MedStar Washington Hospital Center, Washington, District of Columbia; Department of Plastic and Reconstructive Surgery, Georgetown University School of Medicine, Washington, District of Columbia. Electronic address:
Article Synopsis
- ECMO usage is increasing, but determining which patients will benefit the most is challenging, making risk stratification crucial.
- This study evaluated the impact of two biomarkers, SDC-1 and soluble thrombomodulin (sTM), on mortality rates in patients on venoarterial ECMO.
- Results showed that higher levels of sTM significantly correlate with increased mortality risk, while SDC-1 levels are marginally predictive; these findings suggest that incorporating these biomarkers could enhance existing scoring systems for better patient assessment.
Right Atrial Myxoma Removal Followed by COVID-19 Infection and Possibly Related Late Pericardial Effusion in a 31-Year-Old Male.
Cureus
October 2024
Medical Corps, Israel Defense Forces, Haifa, ISR.
Article Synopsis
- * Surgical removal is often required to prevent issues like embolization; these tumors can appear randomly or as part of genetic conditions such as the Carney complex.
- * A case of a 31-year-old man with a right atrial myxoma is discussed; after surgery, he later developed acute pericarditis linked to COVID-19, possibly due to his prior heart surgery.
Factors Associated With the Recruitment of Primary Care Workforce in Rural Vermont: A Pilot Study.
Cureus
October 2024
Division of Public Health, Robert Larner, MD College of Medicine, University of Vermont, Burlington, USA.
Article Synopsis
- - This study investigates the factors affecting the recruitment of primary care professionals (PCPs) in rural Vermont, aiming to improve healthcare for aging populations in these areas.
- - Through interviews with Family Medicine residents and DNP students, it was found that personal and lifestyle factors, rather than just financial incentives, significantly influence their decisions to work in rural healthcare settings.
- - The research concludes that recruitment strategies should focus on enhancing rural experiences during medical training and building stronger connections with rural healthcare environments to attract more PCPs.
The "Pigmented Side" of Nerve Sheaths: Malignant Melanotic Nerve Sheath Tumor.
Int J Surg Pathol
November 2024
Neuroscience, Reproductive and Odontostomatological Sciences, Division of Neurosurgery, University of Naples Federico II School of Medicine and Surgery, Napoli, Campania, Italy.
Article Synopsis
- - Malignant melanotic nerve sheath tumor (MMNST) is a rare and aggressive tumor that arises in both peripheral and cranial nerves, accounting for less than 1% of all nerve sheath tumors, but its true prevalence is uncertain due to changes in classification.
- - Unlike previously thought, MMNST is now recognized as a distinct tumor type with unique clinical and biological characteristics, often linked to a specific genetic marker and frequently found in patients with Carney Complex.
- - This report discusses a patient with MMNST, emphasizing the importance of a multidisciplinary diagnostic approach, and presents the first case of proton beam therapy for this condition while reviewing recent literature to address diagnostic challenges and histopathological pitfalls.
Conserved transcription factors coordinate synaptic gene expression through repression.
bioRxiv
November 2024
Department of Neuroscience, Brown University, Providence, RI, USA.
Article Synopsis
- Chemical synapses are essential for communication in the nervous system, and their formation relies on the coordinated expression of many proteins in two interacting cells.
- Researchers discovered that genes related to synapses are regulated cohesively in terms of transcription across different species, indicating a sophisticated mechanism at play.
- They identified two chromatin regulators, DEAF1 and CLAMP, which act as general repressors of synaptic gene expression; disrupting these factors leads to increased synaptic proteins and excess synapse formation, highlighting their critical role in controlling neuronal connectivity.
Monkeys engage in visual simulation to solve complex problems.
Curr Biol
December 2024
Department of Neuroscience, Brown University, Meeting Street, Providence, RI 02906, USA; Robert J. and Nancy D. Carney Institute for Brain Sciences, Brown University, Angell Street, Providence, RI 02906, USA. Electronic address:
Article Synopsis
Carney complex was diagnosed following the recurrence of cardiac myxoma: A case report.
Asian J Surg
November 2024
Department of Cardiovascular Surgery, Binzhou Medical University Hospital, Binzhou, Shandong province, 256600, China.
Total resection via right mini-thoracotomy for left atrial myxoma in juvenile Carney complex: a case report.
Gen Thorac Cardiovasc Surg Cases
October 2024
Department of Cardiovascular Surgery, Tokuyama Central Hospital, 1-1 Kodacho, Shunan, Yamaguchi, 745-8522, Japan.
Article Synopsis
- The Carney complex is a rare syndrome marked by skin pigmentation, endocrine issues, and aggressive cardiac myxomas, as highlighted in a case of a 13-year-old girl diagnosed with it.
- The patient experienced sudden left-sided paralysis and difficulty speaking, leading to surgery after imaging revealed a tumor in her heart's left atrium.
- The surgery, performed with a right lateral mini-thoracotomy, successfully removed the tumor, and three years later, there was no sign of recurrence, emphasizing the importance of ongoing monitoring for patients with this condition.
The First Pilot Epigenetic Type Improvement of Neuropsychiatric Symptoms in a Polymorphic Dopamine D2 (-DRD2/ANKK (Taq1A)), OPRM1 (A/G), DRD3 (C/T), and MAOA (4R) Compromised Preadolescence Male with Putative PANDAS/CANS: Positive Clinical Outcome with Precision-Guided DNA Testing and Pro-Dopamine Regulation (KB220) and Antibacterial Therapies.
Open J Immunol
September 2024
Behavioral Neuropharmacology and Neuroimaging Laboratory, Clinical Research Institute on Addictions, Department of Pharmacology and Toxicology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA.
Pediatric autoimmune neuropsychiatric disorders associated with or without streptococcal and other bacterial infections (PANDAS/CANS) are emerging as a featured pediatric disorder. Although there is some controversy regarding treatment approaches, especially related to the behavioral sequelae, we have hypothesized in other published work that it is characterized by the rapid onset of Reward Deficiency Syndrome (RDS) in children. We propose utilizing a multi-systems biological approach involving the coupling of genetic addiction risk testing and pro-dopamine regulation (KB220/POLYGEN) to help induce "dopamine homeostasis" in patients with PANDAS, especially those with known DNA-induced hypodopaminergia.
View Article and Find Full Text PDFContinuous integration of heading and goal directions guides steering.
bioRxiv
October 2024
Department of Neuroscience, Brown University, Providence, RI 02912, USA; Carney Institute for Brain Science, Brown University, Providence, RI 02912, USA.
Article Synopsis
- * The fan-shaped body (FB) within this region is crucial for integrating multisensory information, with specific neuronal populations (PFN and PFN neurons) encoding navigational cues such as wind and visual flow.
- * Experiments demonstrate that PFN neuron activity directly influences steering behavior, allowing flies to adjust their movement trajectories in response to changing environment signals through a model of continuous sensory integration.
A human brain network linked to restoration of consciousness after deep brain stimulation.
medRxiv
October 2024
Department of Neurosurgery, Mass General Brigham, Harvard Medical School, Boston, MA, USA.
Article Synopsis
- Disorders of consciousness (DoC) refer to conditions where a person has reduced awareness or ability to respond, and deep brain stimulation (DBS) is being explored as a treatment, with varying effectiveness based on patient specifics and stimulation methods.
- In a study of 40 DoC patients receiving DBS, improved consciousness was linked to better gray matter preservation, particularly in the striatum, and effective stimulation targeted specific brain areas, particularly the thalamic centromedian-parafascicular complex.
- The research highlights the need for precise electrode placement and suggests a connection between successful DBS treatment for DoC and mechanisms involved in other conditions that impair consciousness, such as absence seizures and brain lesions
Post-acute sequelae of SARS-CoV-2 cardiovascular symptoms are associated with trace-level cytokines that affect cardiomyocyte function.
Nat Microbiol
December 2024
School of Chemistry and Molecular Biosciences, The University of Queensland, St Lucia, Queensland, Australia.
Article Synopsis
- - An estimated 65 million people globally experience post-acute sequelae of COVID-19 (PASC), with many suffering from specific cardiovascular symptoms (PASC-CVS) like chest pain and heart palpitations.
- - The study focuses on chronic inflammation in PASC-CVS patients, particularly those with symptoms lasting over a year, and shows a distinct blood signature indicating inflammation linked to their condition.
- - Findings reveal trace levels of pro-inflammatory cytokines and elevated complement and coagulation proteins in the blood of PASC-CVS patients, suggesting that chronic inflammation significantly impacts heart function in these individuals.
Gastrointestinal Stromal Tumors: Variants and Some Pitfalls That They Create.
Adv Anat Pathol
November 2024
Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, FL.
Article Synopsis
Gastrointestinal stromal tumours (GIST) in children: An update of this orphan disease.
Bull Cancer
October 2024
Pediatric Hematology Oncology Department, La Timone Children's Hospital, AP-HM, 264, rue St Pierre, 13385 Marseille cedex, France. Electronic address:
Article Synopsis
- - Gastrointestinal stromal tumours (GIST) are digestive tract tumors primarily affecting adults, with limited management guidelines for pediatric cases.
- - An updated literature review reveals that GIST in children often links to syndromic or familial contexts, with over 170 documented cases, primarily involving genetic alterations in Succinate Dehydrogenase (SDH).
- - Management recommendations for pediatric GIST are similar to those for adults, but specific biological differences necessitate tailored therapeutic approaches, prompting international collaborations to enhance understanding of this rare condition.
Male Infertility associated with a Novel Mutation in Carney Complex.
Clin Med Insights Endocrinol Diabetes
October 2024
Department of Endocrinology, Acibadem Sistina Hospital, North Macedonia.
Article Synopsis
- - Carney Complex (CNC) is a rare genetic syndrome causing spotty skin pigmentation and multiple tumors, including heart tumors (myxomas) and specific testicular tumors, and is usually inherited in an autosomal dominant manner.
- - A 30-year-old male patient with CNC experienced severe infertility issues connected to both oligoasthenozoospermia and a rare testicular tumor (LCCSCT), along with recurring cardiac myxomas.
- - Molecular testing revealed a novel gene mutation that may lead to male infertility in CNC patients; highlighting the need for early diagnosis and management of infertility in affected males.
Gastrointestinal stromal tumor in Carney's triad with laparoscopic total gastrectomy: a case report.
Surg Case Rep
October 2024
Hyogo Amagasaki General Center, Amagasaki, Japan.
Introduction: Carney's triad is a rare syndrome characterized by the co-occurrence of gastric gastrointestinal stromal tumor (GIST), pulmonary chondroma, and extra-adrenal paraganglioma. We present a case of a young woman with GISTs associated with this triad.
Case Presentation: A 28-year-old woman was identified with multiple gastric tumors and a right lung nodule during a routine health check-up.
Clinical, legal and ethical implications of coercion and compulsory treatment in eating disorders: do rapid review findings identify clear answers or more muddy waters?
J Eat Disord
October 2024
InsideOut Institute for Eating Disorders, University of Sydney/ Sydney Local Health District, Sydney, NSW, Australia.
Article Synopsis
Reducing power requirements for high-accuracy decoding in iBCIs.
J Neural Eng
November 2024
Wallace H. Coulter Department of Biomedical Engineering, Emory University and Georgia Institute of Technology, Atlanta, GA, United States of America.
Article Synopsis
- Current intracortical brain-computer interfaces (iBCIs) primarily use spiking data for decoding neural activity, which can be accurate but requires high sampling rates that can be challenging to maintain.
- An alternative approach involves using local field potentials (LFPs) to capture continuous signals alongside spikes, but LFPs alone have not matched the performance of spike-based decoding.
- This study shows that by training models to use LFPs to predict firing rates from spiking data, the performance can improve significantly, allowing for lower power iBCI devices that still achieve high accuracy, even outperforming direct spike decoding in many cases.
The neuroscience of mental illness: Building toward the future.
Cell
October 2024
Carney Institute for Brain Science, Brown University, Providence, RI, USA.
Article Synopsis
- - Mental illnesses are primarily caused by brain dysfunction, despite being influenced by other external factors.
- - There is a common belief that neuroscience has not significantly impacted mental health care, but this review aims to challenge that view.
- - The review highlights past neuroscientific advances that have aided mental health care and discusses how current developments may lead to further improvements.