4,956 results match your criteria classically associated

Congenital onychodysplasia of the ring finger presenting as a bifid nail.

Pediatr Dermatol 2021 Aug 2. Epub 2021 Aug 2.

Division of Dermatology, Cooper University Hospital, Camden, NJ, USA.

Congenital onychodysplasia, or Iso-Kikuchi syndrome, is classically defined as a congenital nail abnormality of one or both index fingers that is often associated with a bone abnormality in the affected finger. We report an unusual case of a 6-year-old girl who presented with an S-shaped, bifid nail of the left ring finger that had been present since birth. X-ray findings were used to confirm a diagnosis of congenital onychodysplasia of the ring finger. Read More

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Focal Neurologic Deficit After Epidural Catheter Removal Leads to Meningioma Diagnosis.

Cureus 2021 Jun 29;13(6):e16015. Epub 2021 Jun 29.

Anesthesiology, State University of New York Upstate Medical University, Syracuse, USA.

We present an unusual case of a 60-year-old female who developed subtle, new-onset left upper and lower extremity weakness on day five of perioperative thoracic epidural placement. The onset of a focal neurological deficit after epidural placement usually raises suspicion for the presence of an epidural hematoma, abscess, or traumatic cord lesion. However, in this patient, brain imaging revealed a large, previously undiagnosed intracranial mass. Read More

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A Computational Exploration of the Molecular Network Associated to Neuroinflammation in Alzheimer's Disease.

Front Pharmacol 2021 15;12:630003. Epub 2021 Jul 15.

Univ. Lille, Inserm, CHU-Lille, Lille Neuroscience & Cognition, Lille, France.

Neuroinflammation, as defined by the presence of classically activated microglia, is thought to play a key role in numerous neurodegenerative disorders such as Alzheimer's disease. While modulating neuroinflammation could prove beneficial against neurodegeneration, identifying its most relevant biological processes and pharmacological targets remains highly challenging. In the present study, we combined text-mining, functional enrichment and protein-level functional interaction analyses to 1) identify the proteins significantly associated to neuroinflammation in Alzheimer's disease over the scientific literature, 2) distinguish the key proteins most likely to control the neuroinflammatory processes significantly associated to Alzheimer's disease, 3) identify their regulatory microRNAs among those dysregulated in Alzheimer's disease and 4) assess their pharmacological targetability. Read More

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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Am J Pathol 2021 Jul 28. Epub 2021 Jul 28.

Institut für Neuropathologie, Campus Forschung 2 OG, Raum 005, Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Deutschland.

Alzheimer's disease is the most common cause of dementia. Biological definitions of AD are limited to the cerebral burden of amyloid β plaques, neurofibrillary pathology and neurodegeneration. However, current evidence suggests various features of small vessel disease (SVD) are part and parcel of and covertly modify both sporadic and familial AD. Read More

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Trichuris muris infection drives cell-intrinsic IL4R alpha independent colonic RELMα+ macrophages.

PLoS Pathog 2021 Jul 30;17(7):e1009768. Epub 2021 Jul 30.

Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.

The intestinal nematode parasite Trichuris muris dwells in the caecum and proximal colon driving an acute resolving intestinal inflammation dominated by the presence of macrophages. Notably, these macrophages are characterised by their expression of RELMα during the resolution phase of the infection. The RELMα+ macrophage phenotype associates with the presence of alternatively activated macrophages and work in other model systems has demonstrated that the balance of classically and alternatively activated macrophages is critically important in enabling the resolution of inflammation. Read More

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Revealing the Precise Role of Calretinin Neurons in Epilepsy: We Are on the Way.

Neurosci Bull 2021 Jul 29. Epub 2021 Jul 29.

Institute of Pharmacology and Toxicology, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, China.

Epilepsy is a common neurological disorder characterized by hyperexcitability in the brain. Its pathogenesis is classically associated with an imbalance of excitatory and inhibitory neurons. Calretinin (CR) is one of the three major types of calcium-binding proteins present in inhibitory GABAergic neurons. Read More

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Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.

J Child Neurol 2021 Jul 27:8830738211026072. Epub 2021 Jul 27.

Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia Vancouver, British Columbia, Canada.

Introduction: Lennox-Gastaut syndrome is a severe form of pediatric epilepsy that is classically defined by a triad of drug-resistant seizures, including atonic, tonic, and atypical absence seizures; slow spike-and-wave discharges and paroxysmal fast activity on electroencephalography (EEG); and cognitive and behavioral dysfunction. In the vast majority, Lennox-Gastaut syndrome develops in patients with an identified etiology, including genetic or structural brain abnormalities. Long-term prognosis is generally poor with progressive intellectual deterioration and persistent seizures. Read More

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RAD51 paralog function in replicative DNA damage and tolerance.

Curr Opin Genet Dev 2021 Jul 23;71:86-91. Epub 2021 Jul 23.

School of Natural and Social Sciences, University of Gloucestershire, Cheltenham, UK. Electronic address:

RAD51 paralog gene mutations are observed in both hereditary breast and ovarian cancers. Classically, defects in RAD51 paralog function are associated with homologous recombination (HR) deficiency and increased genomic instability. Several recent investigative advances have enabled characterization of non-canonical RAD51 paralog function during DNA replication. Read More

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Innate Lymphoid Cells in Intestinal Homeostasis and Inflammatory Bowel Disease.

Int J Mol Sci 2021 Jul 16;22(14). Epub 2021 Jul 16.

LamImSys Lab, Instituto de Investigación Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.

Inflammatory bowel disease (IBD) is a heterogeneous state of chronic intestinal inflammation of unknown cause encompassing Crohn's disease (CD) and ulcerative colitis (UC). IBD has been linked to genetic and environmental factors, microbiota dysbiosis, exacerbated innate and adaptive immunity and epithelial intestinal barrier dysfunction. IBD is classically associated with gut accumulation of proinflammatory Th1 and Th17 cells accompanied by insufficient Treg numbers and Tr1 immune suppression. Read More

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Automatic Processing of Numerosity in Human Neocortex Evidenced by Occipital and Parietal Neuromagnetic Responses.

Cereb Cortex Commun 2021 7;2(2):tgab028. Epub 2021 Apr 7.

Center for Research in Cognition and Neurosciences (CRCN), UNI - ULB Neuroscience Institute, Université libre de Bruxelles (ULB), Brussels 1050, Belgium.

Humans and other animal species are endowed with the ability to sense, represent, and mentally manipulate the number of items in a set without needing to count them. One central hypothesis is that this ability relies on an automated functional system dedicated to numerosity, the perception of the discrete numerical magnitude of a set of items. This system has classically been associated with intraparietal regions, however accumulating evidence in favor of an early visual number sense calls into question the functional role of parietal regions in numerosity processing. Read More

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Cytomegalovirus-associated pseudomembranous colitis in a kidney transplant recipient.

Transpl Infect Dis 2021 Jul 19. Epub 2021 Jul 19.

Department of Infectious Diseases, Singapore General Hospital, Singapore.

Pseudomembranous colitis (PMC) is classically associated with Clostridium difficile infection. We report a rare case of cytomegalovirus (CMV)-associated PMC in a 52-year-old female patient who had undergone kidney transplantation more than 20 years ago and was on low dose prednisolone and ciclosporin. She presented with an acute history of fever, lethargy, vomiting and diarrhoea on admission. Read More

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McCune-Albright syndrome onset with vaginal bleeding.

BMJ Case Rep 2021 Jul 19;14(7). Epub 2021 Jul 19.

Department of Radiology, Vinmec Healthcare System, Hanoi, Viet Nam.

McCune-Albright syndrome (MAS), a rare genetic disorder, affects multiple organs and classically presents with the triad of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots) and precocious puberty. Diagnosis occurs when patients manifest at least two of these three symptoms. We describe a 4-year-old girl who was admitted to our hospital due to recurrent vaginal bleeding, initially diagnosed as precocious puberty. Read More

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Anxiety in Parkinson's Disease: A Systematic Review of Neuroimaging Studies.

J Neuropsychiatry Clin Neurosci 2021 Jul 19:appineuropsych20110272. Epub 2021 Jul 19.

Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore (Perepezko, Bakker); Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine (Naaz, Wagandt, Nanavati, Bakker, Pontone); University of Queensland Centre for Clinical Research, Faculty of Medicine, Brisbane, Australia (Dissanayaka); School of Psychology, University of Queensland (Dissanayaka); Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Australia (Dissanayaka); Department of Neurology, Johns Hopkins University School of Medicine (Mari, Bakker, Pontone); and Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas (Mari).

Objective: The mechanisms and neuronal networks associated with anxiety in Parkinson's disease (PD) are incompletely understood. One of the best tools for investigating both component function and neuronal networks associated with psychiatric symptoms is functional MRI (fMRI). Unlike structural scans, functional scans, whether task-based or resting-state, are more likely to be clinically relevant and sensitive to changes related to treatment. Read More

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A spectral theory for Wright's inbreeding coefficients and related quantities.

PLoS Genet 2021 Jul 19;17(7):e1009665. Epub 2021 Jul 19.

Université Grenoble-Alpes, Grenoble, France.

Wright's inbreeding coefficient, FST, is a fundamental measure in population genetics. Assuming a predefined population subdivision, this statistic is classically used to evaluate population structure at a given genomic locus. With large numbers of loci, unsupervised approaches such as principal component analysis (PCA) have, however, become prominent in recent analyses of population structure. Read More

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Serum Amyloid A1 Induces Classically Activated Macrophages: A Role for Enhanced Fibril Formation.

Front Immunol 2021 30;12:691155. Epub 2021 Jun 30.

Institute of Pharmacology of Natural Products and Clinical Pharmacology, Ulm University, Ulm, Germany.

AA amyloidosis belongs to the group of amyloid diseases which can follow chronic inflammatory conditions of various origin. The disease is characterized by the deposition of insoluble amyloid fibrils formed by serum amyloid A1 (SAA1) leading eventually to organ failure. Macrophages are intimately involved in the fibrillogenesis as well as in the clearance of amyloid fibrils. Read More

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Delayed oculomotor nerve palsy associated with a ruptured anterior communicating aneurysm: Case report.

J Clin Neurosci 2021 Aug 25;90:56-59. Epub 2021 May 25.

Department of Neurosurgery, Sir Charles Gairdner Hospital, Perth, Australia.

Background And Importance: Oculomotor nerve palsy (ONP) is usually associated with posterior communicating (PCOM) aneurysms. ONP in patients with anterior circulation aneurysms are extremely rare, with only a handful of such published cases to date. There is currently no accepted mechanism to explain this clinical finding. Read More

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Facial hypopigmentation in skin of color: An atypical presentation of lichen nitidus.

Pediatr Dermatol 2021 Jul 16. Epub 2021 Jul 16.

Section of Dermatology, Departments of Pediatrics and Medicine, University of Chicago Medicine, Chicago, IL, USA.

Lichen nitidus is a benign skin condition of unknown etiology that is classically described on the trunk, extremities, and genitalia as pinpoint flat-topped papules. In dark-skinned persons, the lesions may appear shiny or even hypopigmented. Lichen nitidus is less often described on the face. Read More

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Time Perception is a Focal Symptom of Attention-Deficit/Hyperactivity Disorder in Adults.

Med Sci Monit 2021 Jul 17;27:e933766. Epub 2021 Jul 17.

Department of Psychiatry, 1st Medical Faculty of Charles University and General Teaching Hospital in Prague, Prague, Czech Republic.

Attention-Deficit/Hyperactivity Disorder (ADHD) is classically associated with symptoms that include inattentiveness, hyperactivity, and impulsivity together with a variety of other observable externalized symptoms. ADHD has also been associated with specific internalized cognitive symptoms, including restlessness and emotional impulsivity. This disorder has been recognized as a lifelong condition and can be recognized by a variety of unique cognitive phenomena. Read More

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Progesterone triggers Rho kinase-cofilin axis during in vitro and in vivo endometrial decidualization.

Hum Reprod 2021 Jul;36(8):2230-2248

Competence Centre on Health Technologies, Tartu, Estonia.

Study Question: Can a combination of the focussed protein kinase assays and a wide-scale proteomic screen pinpoint novel, clinically relevant players in decidualization in vitro and in vivo?

Summary Answer: Rho-dependent protein kinase (ROCK) activity is elevated in response to the combined treatment with progesterone and 8-Br-cAMP during in vitro decidualization, mirrored by increase of ROCK2 mRNA and protein levels and the phosphorylation levels of its downstream target Cofilin-1 (CFL1) in secretory versus proliferative endometrium.

What Is Known Already: Decidualization is associated with extensive changes in gene expression profile, proliferation, metabolism and morphology of endometrium, yet only a few underlying molecular pathways have been systematically explored. In vitro decidualization of endometrial stromal cells (ESCs) can be reportedly induced using multiple protocols with variable physiological relevance. Read More

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Brain areas involved in modulating the immune response participating to hypertension and its target organ damage.

Antioxid Redox Signal 2021 Jul 16. Epub 2021 Jul 16.

University of Rome La Sapienza, 9311, Molecular Medicine, Viale Regina Elena, Rome, Italy, 00186.

Significance: Hypertension is a multifactorial disease ensuing from the continuous challenge imposed by several risk factors on the cardiovascular system. Classically known pathophysiological alterations associated with hypertension comprise neurogenic mechanisms dysregulating the autonomic nervous system, vascular dysfunction, excessive activation of the renin angiotensin system. During the last years, a considerable number of studies indicated that also immune activation and inflammation have an important role in the onset and maintenance of hypertension. Read More

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Comparative Proteomic Analysis of Polarized Human THP-1 and Mouse RAW264.7 Macrophages.

Front Immunol 2021 29;12:700009. Epub 2021 Jun 29.

College of Life Science, Northwest University, Xi'an, China.

Macrophages can be polarized into classically activated macrophages (M1) and alternatively activated macrophages (M2) in the immune system, performing pro-inflammatory and anti-inflammatory functions, respectively. Human THP-1 and mouse RAW264.7 cell line models have been widely used in various macrophage-associated studies, while the similarities and differences in protein expression profiles between the two macrophage models are still largely unclear. Read More

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Hypothalamic pathology in Huntington disease.

Handb Clin Neurol 2021 ;182:245-255

Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany; Department of Neurology, Faculty of Medicine, University of Bonn, Bonn, Germany.

Huntington's disease (HD), an autosomal dominant hereditary disorder associated with the accumulation of mutant huntingtin, is classically associated with cognitive decline and motor symptoms, notably chorea. However, growing evidence suggests that nonmotor symptoms are equally prevalent and debilitating. Some of these symptoms may be linked to hypothalamic pathology, demonstrated by findings in HD animal models and HD patients showing specific changes in hypothalamic neuropeptidergic populations and their associated functions. Read More

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CD63 is Regulated by Iron via the IRE-IRP System and is Important for Ferritin Secretion by Extracellular Vesicles.

Blood 2021 Jul 15. Epub 2021 Jul 15.

Kenjinkai Healthcare Corporation, Sanyo-Onoda, Japan.

Extracellular vesicles (EVs) transfer functional molecules between cells. CD63 is a widely recognized EV marker that contributes to EV secretion from cells. However, the regulation of its expression remains largely unknown. Read More

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Systems Immunology Analysis Reveals the Contribution of Pulmonary and Extrapulmonary Tissues to the Immunopathogenesis of Severe COVID-19 Patients.

Front Immunol 2021 28;12:595150. Epub 2021 Jun 28.

Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

As one of the current global health conundrums, COVID-19 pandemic caused a dramatic increase of cases exceeding 79 million and 1.7 million deaths worldwide. Severe presentation of COVID-19 is characterized by cytokine storm and chronic inflammation resulting in multi-organ dysfunction. Read More

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Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis.

JIMD Rep 2021 Jul 21;60(1):32-41. Epub 2021 Mar 21.

Graduate Program in Medicine: Surgical Sciences UFRGS Porto Alegre Brazil.

Background: Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction abnormalities, and data regarding posterior fossa findings are scarce in the literature. Thus, our purpose is to describe posterior fossa findings on magnetic resonance imaging (MRI) of MPS patients. Read More

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Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France.

Rev Neurol (Paris) 2021 Jul 9. Epub 2021 Jul 9.

Centre de référence des Maladies Neuromusculaires, CHU Lille, 59000 Lille, France; Service de Neurologie et pathologie du mouvement, CHU Lille, 59000 Lille, France.

Introduction: Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy.

Objective: To describe the initial electro-clinical presentation of patients from in a single region (northern France) of h-ATTR when it presents as a polyneuropathy of unknown origin.

Method: We reviewed the records of patients referred to two neuromuscular centers from northern France with a peripheral neuropathy of unknown origin who were subsequently diagnosed with h-ATTR. Read More

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Type III intermittency without characteristic relation.

Chaos 2021 Apr;31(4):043127

Department of Aeronautics, Facultad de Ciencias Exactas, Físicas y Naturales and Instituto de Estudios Avanzados en Ingeniería y Tecnología (IDIT), Universidad Nacional de Córdoba and CONICET, Av. Velez Sarfield 1611, 5000 Córdoba, Argentina.

Chaotic intermittency is a route to chaos when transitions between laminar and chaotic dynamics occur. The main attribute of intermittency is the reinjection mechanism, described by the reinjection probability density (RPD), which maps trajectories from the chaotic region into the laminar one. The RPD classically was taken as a constant. Read More

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Senescence-Induced Chemoresistance in Triple Negative Breast Cancer and Evolution-Based Treatment Strategies.

Front Oncol 2021 24;11:674354. Epub 2021 Jun 24.

Independent Researcher, Greater Noida, India.

Triple negative breast cancer (TNBC) is classically treated with combination chemotherapies. Although, initially responsive to chemotherapies, TNBC patients frequently develop drug-resistant, metastatic disease. Chemotherapy resistance can develop through many mechanisms, including induction of a transient growth-arrested state, known as the therapy-induced senescence (TIS). Read More

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Endovascular treatment of aortic saccular aneurysms associated with Adamantiades-Behçet disease.

J Vasc Bras 2021 25;20:e20200201. Epub 2021 Jun 25.

Hospital Geral Roberto Santos - HGRS, Salvador, BA, Brasil.

Adamantiades-Behçet disease is a multisystemic disorder that classically presents with oral and genital ulcers and ocular involvement, with vascular involvement in up to 38% of cases. Aortic involvement is one of the most serious manifestations and is associated with high mortality rates, occurring in 1.5 to 2. Read More

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Comparison of outcomes of surgery for intracranial meningioma in elderly and young patients - A systematic review and meta-analysis.

Clin Neurol Neurosurg 2021 Jun 25;207:106772. Epub 2021 Jun 25.

Department of Neurosurgery, All India Institute of Medical Sciences, Room No 720, CNC, New Delhi 110029, India.

Objective: The proportion of elderly patients with intracranial meningiomas is increasing as the life expectancy has improved. Increasing age is classically believed to be associated with higher perioperative morbidity and mortality in neurosurgical patients.

Methods: We performed a systematic literature search in 'PUBMED' and 'EMBASE' databases and reviewed all the studies comparing outcomes of surgery between young and elderly patients with intracranial meningiomas (IM). Read More

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