35,414 results match your criteria spectrum features


Arteriovenous Fistula Flow Dysfunction Surveillance: Early Detection Using Pulse Radar Sensor and Machine Learning Classification.

Biosensors (Basel) 2021 Aug 26;11(9). Epub 2021 Aug 26.

Department of Medical Imaging and Radiological Science, I-Shou University, Kaohsiung City 82445, Taiwan.

Vascular Access (VA) is often referred to as the "Achilles heel" for a Hemodialysis (HD)-dependent patient. Both the patent and sufficient VA provide adequacy for performing dialysis and reducing dialysis-related complications, while on the contrary, insufficient VA is the main reason for recurrent hospitalizations, high morbidity, and high mortality in HD patients. A non-invasive Vascular Wall Motion (VWM) monitoring system, made up of a pulse radar sensor and Support Vector Machine (SVM) classification algorithm, has been developed to detect access flow dysfunction in Arteriovenous Fistula (AVF). Read More

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Optic neuritis in Asian type opticospinal multiple sclerosis (OSMS-ON) in a non-Asian population: A functional-structural paradox.

Mult Scler Relat Disord 2021 Sep 9;56:103260. Epub 2021 Sep 9.

Department of Neurology, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazi; Multiple Sclerosis Center, Federal Hospital of Lagoa, Rio de Janeiro, Brazil. Electronic address:

Background: Biomarkers have improved the classification of autoimmune inflammatory disorders, including optic neuritis (ON) as a frequent presentation of multiple sclerosis, neuromyelitis spectrum disorders, MOG antibody-related disease (MOGAD), and opticospinal multiple sclerosis (OSMS). The phenotype of OSMS in non-Asian populations is less well known.

Objective: We investigated the clinical features and prognosis of OSMS-ON in a Brazilian cohort. Read More

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September 2021

Desmoid fibromatosis of the breast; a rare case report.

Int J Surg Case Rep 2021 Sep 6;87:106363. Epub 2021 Sep 6.

Smart Health Tower, Madam Mitterrand Str, Sulaimani, Kurdistan, Iraq.

Introduction: Desmoid tumor is an uncommon tumor with variable spectrum ranged from being a locally lesion to an aggressive and destructive one. The current case aims to report a rare condition of desmoid type fibromatosis of the breast.

Presentation Of Case: A 59-year-old female presented with a right breast mass for 9-months. Read More

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September 2021

Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.

J Autism Dev Disord 2021 Sep 25. Epub 2021 Sep 25.

Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752, Katowice, Poland.

The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the rs198198 polymorphism of the PRKCB1 gene was more often transmitted to affected children in the male subgroup (p = 0. Read More

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September 2021

Association of Maternal Diabetes and Autism Spectrum Disorders in Offspring: a Study in a Rodent Model of Autism.

J Mol Neurosci 2021 Sep 25. Epub 2021 Sep 25.

Central Laboratory, Female Campus, King Saud University, Riyadh, Saudi Arabia.

The present study investigated that maternal type 1 diabetes may contribute to autism pathogenesis in offspring, and that insulin therapy during pregnancy may prevent the onset of autism. As evidenced, selected brain biomarkers representing the accepted etiological mechanism of autism in newborn rats from diabetic mothers and diabetic mothers receiving insulin therapy compared to the propionic acid (PPA) rodent model of autism were screened. Female Wistar rats with a controlled fertility cycle were randomly divided into three groups: a control group, a group treated with a single dose of 65 mg/kg streptozotocin (STZ) to induce type 1 diabetes (T1D), and a group treated with a single dose of STZ to induce T1D along with insulin therapy. Read More

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September 2021

Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

Eur J Pediatr 2021 Sep 25. Epub 2021 Sep 25.

Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.

The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night polysomnography were analyzed. In addition, parental interviews were performed for each child. Read More

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September 2021

Histopathologic features of nasal glial heterotopia (nasal glioma).

Childs Nerv Syst 2021 Sep 25. Epub 2021 Sep 25.

Departments of Pathology, Neurology, Neurosurgery, University of Colorado, Aurora, CO, USA.

Purpose: Nasal glioneuronal heterotopia (NGH) is an uncommon developmental abnormality of the nasal cavity or paranasal soft tissue. Few detailed histologic studies of NGH exist, and molecular analyses have not been performed to date.

Methods: We describe six cases of pediatric NGH and two representative encephaloceles encountered in our practice over the past 20 years. Read More

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September 2021

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Am J Med Genet A 2021 Sep 25. Epub 2021 Sep 25.

Department of Neurology, Hospital of University of Pennsylvania, 330 South Ninth Street, Philadelphia, PA, USA.

SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Read More

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September 2021

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

Am J Med Genet A 2021 Sep 25. Epub 2021 Sep 25.

Faculty of Medicine, Department of Medical Genetics, Eskisehir Osmangazi University, Eskişehir, Turkey.

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Read More

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September 2021

Neuropathological variability within a spectrum of NMDAR-encephalitis.

Ann Neurol 2021 Sep 25. Epub 2021 Sep 25.

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria.

Objective: To describe the neuropathological features of N-methyl-D-aspartate receptor (NMDAR)-encephalitis in an archival autopsy cohort.

Methods: We examined four autopsies from patients with NMDAR-encephalitis; two patients were untreated, three had comorbidities: small cell lung cancer (SCLC), brain post-transplant lymphoproliferative disease (PTLD), and overlapping demyelination.

Results: The two untreated patients had inflammatory infiltrates predominantly composed of perivascular and parenchymal CD3 /CD8 T cells and CD79a B cells/plasma cells in basal ganglia, amygdala, and hippocampus with surrounding white matter. Read More

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September 2021

Exercise as Treatment for Neuropathy in the Setting of Diabetes and Pre-diabetic Metabolic Syndrome: a Review of Animal Models and Human Trials.

Curr Diabetes Rev 2021 Sep 23. Epub 2021 Sep 23.

Physical Therapy and Athletic Training, University of Utah, Salt Lake City, United States.

Background: Peripheral neuropathy is among the most common complications of diabetes, but a phenotypically identical distal sensory predominant, painful axonopathy afflicts patients with prediabetic metabolic syndrome, exemplifying a spectrum of risk and continuity of pathogenesis. No pharmacological treatment convincingly improves neuropathy in the setting of metabolic syndrome, but evolving data suggests that exercise may be a promising alternative.

Objective: To review in depth current literature regarding exercise treatment of metabolic syndrome neuropathy in humans and animal models, highlight the diverse mechanisms by which exercise exerts beneficial effects, and examine adherence limitations, safety aspects, modes and dose of exercise. Read More

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September 2021

Low-grade Oncocytic Fumarate Hydratase-deficient Renal Cell Carcinoma: An Update on Biologic Potential, Morphologic Spectrum, and Differential Diagnosis With Other Low-grade Oncocytic Tumors.

Adv Anat Pathol 2021 Sep 27. Epub 2021 Sep 27.

Department of Pathology and Laboratory Medicine, University of Kansas School of Medicine, Kansas City, KS Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT Departments of Pathology and Urology, Virginia Commonwealth University, School of Medicine, Richmond, VA Department of Pathology and Laboratory Medicine, University of Tennessee Health Sciences, Memphis, TN Department of Urology, USC Keck School of Medicine, Los Angeles, CA.

Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is typically considered a high-grade, aggressive subtype of RCC that frequently arises in the setting of hereditary leiomyomatosis-renal cell carcinoma (HLRCC) syndrome. Increasing experience with HLRCC-associated RCC and FH-deficient RCC has resulted in recognition of tumors with lower grade morphologic features, overlapping with those of succinate dehydrogenase-deficient RCC and other low-grade oncocytic tumors. In this review article, we report a previously unpublished case that was recently encountered in our practice and review cases in the current literature with an aim of getting a better understanding of these oncocytic tumors and their morphologic spectrum. Read More

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September 2021

A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.

Exp Mol Pathol 2021 Sep 21:104686. Epub 2021 Sep 21.

Department of Pathology, Laboratory Medicine Center, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou 310014, China. Electronic address:

Ossifying fibromyxoid tumor (OFMT) is a rare mesenchymal neoplasm of uncertain line of differentiation that can be subdivided into typical, atypical, and malignant tumors. Cytogenetically, OFMT is characterized by recurrent gene rearrangement involving PHF1 in up to 85% of cases. The most common PHF1 fusion partner is EP400, present in approximately half of cases. Read More

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September 2021

Does Post-Traumatic Spectrum Comorbidity Influence Symptom Severity in Bipolar Disorders? A Cross-Sectional Study in a Real-World Setting.

Psychiatr Danub 2021 Sep;33(Suppl 9):41-46

Department of Psychiatry, University of Perugia, Piazzale Lucio Severi, 1, 06132, S. Andrea delle Fratte, Perugia, Italy.

Background: The present cross-sectional study investigates the relationship between post-traumatic spectrum comorbidity and the severity of symptoms in subjects diagnosed with Bipolar Disorders (BD).

Subjects And Methods: In- and outpatients diagnosed with BD according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) were consecutively recruited. Sociodemographic and clinical data were collected. Read More

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September 2021

Adult-onset Still's disease or systemic-onset juvenile idiopathic arthritis and spondyloarthritis: overlapping syndrome or phenotype shift?

Rheumatology (Oxford) 2021 Sep 24. Epub 2021 Sep 24.

Centre d'Etude et de Référence sur les Maladies AutoInflammatoires et les Amyloses (CEREMAIA), FAI2R network, Paris, France.

Objectives: Systemic-onset juvenile idiopathic arthritis (SJIA) and adult-onset Still's disease (AOSD) are the same sporadic systemic auto-inflammatory disease. Spondyloarthritis (SpA) is a group of inflammatory non-autoimmune disorders. We report the observations of eight patients with SJIA/AOSD who also presented features of SpA during their disease evolution and estimate the prevalence of SpA in SJIA/AOSD. Read More

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September 2021

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium.

Hum Mol Genet 2021 Sep 24. Epub 2021 Sep 24.

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive, and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute to the wide spectrum of features. Here, we report results of genotype-phenotype associations in a cohort of 170 individuals with PMS. Read More

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September 2021

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

Am J Med Genet A 2021 Sep 24. Epub 2021 Sep 24.

Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubation in the intensive care setting. Rapid trio exome sequencing detected a novel homozygous likely pathogenic missense variant in the ROR2 gene, NM_004560.3:c. Read More

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September 2021

Predictive value of vascular endothelial growth factor and placenta growth factor for placenta accreta spectrum.

J Obstet Gynaecol 2021 Sep 24:1-6. Epub 2021 Sep 24.

Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

This study aimed to assess the maternal features, Vascular Endothelial Growth Factor (VEGF) and Placenta Growth Factor (PLGF) in the Placenta Accreta Spectrum (PAS); then, to determine a predictive value of VEGF and PLGF in the PAS. This prospective case-control study was conducted on 90 pregnant women including 45 PAS, and 45 Normal Placenta (NP). Maternal age, gravidity, C/S, and serum levels of VEGF and PLGF were assessed between NP and PAS, and among NP and PAS sub-groups, including Placenta Accreta (PA), Placenta Increta (PI), and Placenta Percreta (PP). Read More

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September 2021

Homozygous missense variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.

Brain Commun 2021 3;3(3):fcab183. Epub 2021 Sep 3.

Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, 12311 Cairo, Egypt.

is a member of the human WIPI protein family (seven-bladed b-propeller proteins binding phosphatidylinositols, PROPPINs), which play a pivotal role in autophagy and has been implicated in the pathogenesis of several neurological conditions. The homozygous variant c.745G>A; p. Read More

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September 2021

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center.

Indian J Radiol Imaging 2021 Apr 28;31(2):383-390. Epub 2021 Jul 28.

Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

X-linked adrenoleukodystrophy (X-ALD) is a devastating disease with a wide spectrum of presentation ranging from asymptomatic to a rapidly progressive childhood cerebral form. The gene responsible for adrenoleukodystrophy is ABCD1 gene, required for β oxidation of fatty acids in various tissues. While biochemical and molecular techniques are available to confirm the diagnosis, brain magnetic resonance imaging (MRI) utilizing Loes score has been used for both prognosis and timely direction of hematopoietic stem cell therapy. Read More

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Proteomic characterization of primary and metastatic prostate cancer reveals reduced proteinase activity in aggressive tumors.

Sci Rep 2021 Sep 23;11(1):18936. Epub 2021 Sep 23.

Department of Pathology, The John Hopkins Medical Institutions, 600 N. Wolfe Street, Baltimore, MD, 21224, USA.

Prostate cancer (PCa) is a heterogeneous group of tumors with variable clinical courses. In order to improve patient outcomes, it is critical to clinically separate aggressive PCa (AG) from non-aggressive PCa (NAG). Although recent genomic studies have identified a spectrum of molecular abnormalities associated with aggressive PCa, it is still challenging to separate AG from NAG. Read More

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September 2021

Case report of restless anal syndrome as restless legs syndrome variant after COVID-19.

BMC Infect Dis 2021 Sep 23;21(1):993. Epub 2021 Sep 23.

Tokyo Medical University Hospital, Tokyo, Japan.

Background: Coronavirus disease 2019 (COVID-19) has a broad spectrum from respiratory and nasopharyngeal symptoms, cerebrovascular diseases, impaired consciousness, and skeletal muscle injury. Emerging evidence has indicated the neural spread of this novel coronavirus. Restless legs syndrome (RLS) is a common neurological, sensorimotor disorder, but highly under diagnosis disorder. Read More

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September 2021

Current Knowledge of Asthma-COPD Overlap (ACO) Genetic Risk Factors, Characteristics, and Prognosis.

COPD 2021 Sep 24:1-11. Epub 2021 Sep 24.

Clinical Epidemiology Unit, Division of Community Health and Humanities, Faculty of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada.

Asthma-COPD overlap (ACO) is a newly identified phenotype of chronic obstructive airway diseases with shared asthma and COPD features. Patients with ACO are poorly defined, and some evidence suggests that they have worse health outcomes and greater disease burden than patients with COPD or asthma. Generally, there is no evidence-based and universal definition for ACO; several consensus documents have provided various descriptions of the phenotype. Read More

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September 2021

A pilot study of dialectical behaviour therapy skills training for autistic adults.

Behav Cogn Psychother 2021 Sep 23:1-16. Epub 2021 Sep 23.

University of North Carolina School of Medicine, Chapel Hill, NC, USA.

Background: Autism spectrum disorder (ASD) is a common and lifelong neurodevelopmental disorder with the hallmark features of social impairment and restricted and repetitive patterns of behaviour. Individuals with ASD often experience co-occurring mental health difficulties, some of which may obfuscate the ASD features themselves. Although there is a high need for mental health services for autistic adults, there are surprisingly few evidence-based treatments (EBTs) available; moreover, many mental health practitioners who are well-trained in EBTs shy away from treating autistic individuals due to lack of training in ASD. Read More

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September 2021

Clinicopathological features of titinopathy from a Chinese neuromuscular center.

Neuropathology 2021 Sep 22. Epub 2021 Sep 22.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

Titin, one of the largest proteins in humans, is a major component of muscle sarcomeres. Pathogenic variants in the titin gene (TTN) have been reported to cause a range of skeletal muscle diseases, collectively known as titinopathy. Titinopathy is a heterogeneous group of disabling diseases characterized by muscle weakness. Read More

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September 2021

Natural Language Processing as an Emerging Tool to Detect Late-Life Depression.

Front Psychiatry 2021 6;12:719125. Epub 2021 Sep 6.

Department of Psychiatry, University of Toronto, Toronto, ON, Canada.

Late-life depression (LLD) is a major public health concern. Despite the availability of effective treatments for depression, barriers to screening and diagnosis still exist. The use of current standardized depression assessments can lead to underdiagnosis or misdiagnosis due to subjective symptom reporting and the distinct cognitive, psychomotor, and somatic features of LLD. Read More

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September 2021

The three major axes of terrestrial ecosystem function.

Nature 2021 Sep 22. Epub 2021 Sep 22.

Max Planck Institute for Biogeochemistry, Jena, Germany.

The leaf economics spectrum and the global spectrum of plant forms and functions revealed fundamental axes of variation in plant traits, which represent different ecological strategies that are shaped by the evolutionary development of plant species. Ecosystem functions depend on environmental conditions and the traits of species that comprise the ecological communities. However, the axes of variation of ecosystem functions are largely unknown, which limits our understanding of how ecosystems respond as a whole to anthropogenic drivers, climate and environmental variability. Read More

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September 2021

Low-grade epilepsy-associated neuroepithelial tumours with a prominent oligodendroglioma-like component: the diagnostic challenges.

Neuropathol Appl Neurobiol 2021 Sep 22. Epub 2021 Sep 22.

APHM, CHU Timone, Service d'Anatomie Pathologique et de Neuropathologie, Marseille, France.

Aim: We searched for recurrent pathological features and molecular alterations in a retrospective series of 72 low-grade epilepsy-associated neuroepithelial tumours (LEATs) with a prominent oligodendroglioma-like component, in order to classify them according to the 2021 WHO classification of CNS tumours.

Material And Methods: Centralized pathological examination was performed as well as targeted molecular analysis of BRAF and FGFR1 by multiplexed digital PCR (mdPCR). DNA-methylation profiling was performed in cases with sufficient DNA. Read More

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September 2021

[Eosinophilic, solid, and cystic renal cell carcinoma (ESC-NZK)].

Pathologe 2021 Sep 22. Epub 2021 Sep 22.

Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.

Despite its descriptive name, eosinophilic, solid, and cystic renal cell carcinoma (ESC-RCC) represents a distinctive epithelial renal tumor entity defined by characteristic clinicopathological and molecular features. ESC-RCC occurs predominantly in women and is characterized in the majority of cases by sporadic (somatic) TSC mutations. A small subset of cases, however, affects patients with TSC germline mutations (tuberous sclerosis syndrome). Read More

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September 2021

Cortical Gyrification Morphology in ASD and ADHD: Implication for Further Similarities or Disorder-Specific Features?

Cereb Cortex 2021 Sep 21. Epub 2021 Sep 21.

Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto M4G 1R8, Canada.

Shared etiological pathways are suggested in ASD and ADHD given high rates of comorbidity, phenotypic overlap and shared genetic susceptibility. Given the peak of cortical gyrification expansion and emergence of ASD and ADHD symptomology in early development, we investigated gyrification morphology in 539 children and adolescents (6-17 years of age) with ASD (n=197) and ADHD (n=96) compared to typically developing controls (n=246) using the local Gyrification Index (lGI) to provide insight into contributing etiopathological factors in these two disorders. We also examined IQ effects and functional implications of gyrification by exploring the relation between lGI and ASD and ADHD symptomatology beyond diagnosis. Read More

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September 2021