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Oxf Med Case Reports 2022 Jun 23;2022(6):omac063. Epub 2022 Jun 23.

Breast Oncology Service, Saitama Medical University International Medical Center, Hidaka, Saitama JP 350-1298, Japan.

Carney complex (CNC) is a rare multiple tumour syndrome characterized by cutaneous pigmented lesions, myxoma and endocrine tumours, among others, and is inherited as an autosomal dominant trait. Protein kinase cAMP-dependent type I regulatory subunit alpha () is known to be the responsible gene. Breast myxomatosis and ductal adenoma, which are regarded as benign, are well-known mammary lesions of CNC and are included in the main diagnostic criteria. Read More

Biomedicines 2022 Jun 14;10(6). Epub 2022 Jun 14.

Medical Readiness Systems Biology, Walter Reed Army Institute of Research, Silver Spring, MD 20910, USA.

, a gram-positive bacterium, causes toxic shock through the production of superantigenic toxins (sAgs) known as Staphylococcal enterotoxins (SE), serotypes A-J (SEA, SEB, etc.), and toxic shock syndrome toxin-1 (TSST-1). The chronology of host transcriptomic events that characterizes the response to the pathogenesis of superantigenic toxicity remains uncertain. Read More

Tohoku J Exp Med 2022 Jun 23. Epub 2022 Jun 23.

Endocrinology and Diabetes Center, Yokohama Rosai Hospital.

Front Chem 2022 26;10:896386. Epub 2022 May 26.

Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, CA, United States.

Several neurodegenerative diseases are driven by misfolded proteins that assemble into soluble aggregates. These "toxic oligomers" have been associated with a plethora of cellular dysfunction and dysregulation, however the structural features underlying their toxicity are poorly understood. A major impediment to answering this question relates to the heterogeneous nature of the oligomers, both in terms of structural disorder and oligomer size. Read More

Cleve Clin J Med 2022 06 1;89(6):307-308. Epub 2022 Jun 1.

Department of General Medicine, National Defense Medical College, Saitama, Japan.

Biomedicines 2022 Apr 30;10(5). Epub 2022 Apr 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

The genetic basis of most types of adrenal adenomas has been elucidated over the past decade, leading to the association of adrenal gland pathologies with specific molecular defects. Various genetic studies have established links between variants affecting the protein kinase A (PKA) signaling pathway and benign cortisol-producing adrenal lesions. Specifically, genetic alterations in , , , , , and have been identified. Read More

J Gastroenterol Hepatol 2022 May 25. Epub 2022 May 25.

Department of Pathology, Niigata City General Hospital, Niigata, Japan.

World J Cardiol 2022 Apr;14(4):206-219

Department of Cardiology, National Institute of Cardiovascular Diseases, Dhaka 1207, Bangladesh.

Cardiac myxomas are common primary neoplasms of the heart. They are biologically benign but "functionally malignant" because of the potential for embolization. They arise most commonly from the left atrium, but no chambers of the heart are immune. Read More

J Invest Dermatol 2022 May 12. Epub 2022 May 12.

Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France. Electronic address:

Carney complex is a rare familial multineoplastic syndrome predisposing to endocrine and nonendocrine tumors due to inactivating mutations of PRKAR1A, leading to perturbations of the cAMP‒protein kinase A signaling pathway. Skin lesions are the most common manifestation of Carney complex, including lentigines, blue nevi, and cutaneous myxomas in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. Read More

Adv Geriatr Med Res 2022 29;4(1). Epub 2022 Mar 29.

Center for Biomedical Engineering, School of Engineering, Brown University, Providence, RI 02912, USA.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder affecting millions of people worldwide and is currently incurable. As the population ages, AD and related dementia are becoming the biggest epidemic in medical history: the number of people aged 65 and older with AD is projected to increase between two- and three-fold by 2050. Imaging and biomarker studies suggest that the pathophysiological processes of AD begin more than a decade before the diagnosis of dementia, opening the possibility of early, preemptive prediction. Read More

J Vet Intern Med 2022 May 14;36(3):993-1004. Epub 2022 Apr 14.

Department of Clinical Sciences, Cornell University, Ithaca, New York, USA.

Background: Improved methodology to measure acute phase proteins and determination of lipoprotein particle-size distribution (PSD) could be clinically useful in dogs with systemic inflammatory processes.

Objectives: Evaluate an immunoturbidometric assay for serum amyloid A (SAA) and lipoprotein PSD in dogs with sepsis, nonseptic systemic inflammation, and in healthy controls. Correlate dyslipidemic changes with SAA and C-reactive protein (CRP) concentrations. Read More

Nat Genet 2022 04 4;54(4):412-436. Epub 2022 Apr 4.

Research Center and Memory Clinic Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Read More

Cognition 2022 Aug 29;225:105103. Epub 2022 Mar 29.

Department of Cognitive, Linguistic, and Psychological Sciences, Brown University, USA; Carney Institute for Brain Science, Brown University, USA.

Humans appear to represent many forms of knowledge in associative networks whose nodes are multiply connected, including sensory, spatial, and semantic. Recent work has shown that explicitly augmenting artificial agents with such graph-structured representations endows them with more human-like capabilities of compositionality and transfer learning. An open question is how humans acquire these representations. Read More

Clin Endocrinol (Oxf) 2022 Mar 29. Epub 2022 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Objective: Most pituitary tumours occur sporadically without a genetically identifiable germline abnormality, a small but increasing proportion present with a genetic defect that predisposes to pituitary tumour development, either isolated (e.g., aryl hydrocarbon receptor-interacting protein, AIP) or as part of a tumour-predisposing syndrome (e. Read More

Front Biosci (Landmark Ed) 2022 03;27(3):77

Department of Neurosurgery, University of Utah, Salt Lake City, UT 84132, USA.

Pituitary adenomas (PA), or pituitary neuroendocrine tumors (PitNETs), represent 15% of all central nervous system tumors. Classic description of PitNETs solely by hormonal classification has given way to key transcription factors that play a role in the pathology of PitNETs including steroidogenic factor-1 (SF-1), t-box pituitary transcription factor (TPIT), and pituitary transcription factor 1 (PIT-1). Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), and Carney complex. Read More

Nat Rev Nephrol 2022 05;18(5):273

Nature Reviews Nephrology, .

Atten Percept Psychophys 2022 Apr 18;84(3):926-942. Epub 2022 Mar 18.

Department of Cognitive, Linguistic, and Psychological Sciences, Brown University, Providence, RI, 02912, USA.

Considerable research has shown that the perception of time can be distorted subjectively, but little empirical work has examined what factors affect time perception in film, a naturalistic multimodal stimulus. Here, we explore the effect of sensory modality, arousal, and valence on how participants estimate durations in film. Using behavioral ratings combined with pupillometry in a within-participants design, we analyzed responses to and duration estimates of film clips in three experimental conditions: audiovisual (containing music and sound effects), visual (without music and sound effects), and auditory (music and sound effects without a visual scene). Read More

Elife 2022 Mar 11;11. Epub 2022 Mar 11.

Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, United States.

Background: Risk of severe COVID-19 increases with age, is greater in males, and is associated with lymphopenia, but not with higher burden of SARS-CoV-2. It is unknown whether effects of age and sex on abundance of specific lymphoid subsets explain these correlations.

Methods: Multiple regression was used to determine the relationship between abundance of specific blood lymphoid cell types, age, sex, requirement for hospitalization, duration of hospitalization, and elevation of blood markers of systemic inflammation, in adults hospitalized for severe COVID-19 (n = 40), treated for COVID-19 as outpatients (n = 51), and in uninfected controls (n = 86), as well as in children with COVID-19 (n = 19), recovering from COVID-19 (n = 14), MIS-C (n = 11), recovering from MIS-C (n = 7), and pediatric controls (n = 17). Read More

Am J Ophthalmol Case Rep 2022 Jun 18;26:101427. Epub 2022 Feb 18.

North Florida / South Georgia Veterans Health System, 1601 SW Archer Rd., Gainesville, FL, 32608, USA.

Purpose: To present the importance of considering conjunctival myxoid stromal tumors in the differential when evaluating eyelid lesions as these tumors could indicate undetected systemic syndromes including Zollinger-Ellison Syndrome, Carney complex, and other endocrine disorders.

Observations: We present the case of a 56-year-old Caucasian female who was evaluated for a solid cyst-like structure of the palpebral conjunctiva just temporal to, but not involving, the left lower eyelid punctum. The lesion was removed with histopathologic examination of the specimen revealing the lesion to be a myxoid spindle cell tumor, consistent with conjunctival myxoid stromal tumor. Read More

Neural Comput 2022 04;34(5):1075-1099

Artificial and Natural Intelligence Toulouse Institute, Université de Toulouse, 31052 Toulouse, France.

Visual understanding requires comprehending complex visual relations between objects within a scene. Here, we seek to characterize the computational demands for abstract visual reasoning. We do this by systematically assessing the ability of modern deep convolutional neural networks (CNNs) to learn to solve the synthetic visual reasoning test (SVRT) challenge, a collection of 23 visual reasoning problems. Read More

Am J Med Genet A 2022 06 25;188(6):1752-1760. Epub 2022 Feb 25.

Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore.

Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. Read More

Mol Psychiatry 2022 Apr 24;27(4):2291-2303. Epub 2022 Feb 24.

Department of Biological Sciences, University of South Carolina, Columbia, SC, USA.

Autism spectrum disorders (ASD) are associated with defects in neuronal connectivity and are highly heritable. Genetic findings suggest that there is an overrepresentation of chromatin regulatory genes among the genes associated with ASD. ASH1 like histone lysine methyltransferase (ASH1L) was identified as a major risk factor for ASD. Read More

Epilepsia 2022 04 18;63(4):974-991. Epub 2022 Feb 18.

Emory University School of Medicine, Atlanta, Georgia, USA.

Objective: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy.

Methods: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Read More

Nicotine Tob Res 2022 Feb 16. Epub 2022 Feb 16.

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.

Introduction: Tobacco use disorder is a complex behavior with a strong genetic component. Genome-wide association studies (GWAS) on smoking behaviors allows for the creation of polygenic risk scores (PRSs) to approximate genetic vulnerability. However, the utility of smoking-related PRSs in predicting smoking cessation in clinical trials remains unknown. Read More

Cureus 2022 Jan 12;14(1):e21157. Epub 2022 Jan 12.

Internal Medicine and Diabetes and Endocrinology, Barking, Havering and Redbridge University Hospitals National Health Services Trust, London, GBR.

We present the case of a 54-year-old lady who presented to hospital with palpitations and was diagnosed with atrial fibrillation with rapid ventricular response. She was given intravenous metoprolol 5 mg initially followed by a further 5 mg and was commenced on bisoprolol 2.5 mg once daily. Read More

Diagn Pathol 2022 Feb 12;17(1):29. Epub 2022 Feb 12.

Department of Pathology and Translational Research, Gifu University Graduate School of Medicine, Yanagido 1-1, Gifu, 501-1194, Japan.

Background: SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4-deficient thoracic sarcoma (SMARCA4-DTS) is a rare disease that has recently been described as an entity. It is characterized by an aggressive clinical course and specific genetic alterations. As an immunohistological feature, the tumors are deficient in SMARCA4 and SMARCA2 and express sex-determining region Y (SRY)-box 2 (SOX2). Read More

Mol Genet Genomic Med 2022 03 6;10(3):e1884. Epub 2022 Feb 6.

Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.

Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8. Read More

Front Cardiovasc Med 2021 20;8:770228. Epub 2022 Jan 20.

Department of Cardiology, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, China.

We report a rare case of coincidental left atrial and right ventricular myxomas manifesting as masses with different echodensities on transthoracic echocardiography. This patient had a history of left atrial myxoma, left intra-left internal carotid artery myxoma, and facial cutaneous myxoma 3 years prior to admission. A Carney complex was suspected, and the patient subsequently tested positive for mutations. Read More