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Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.

Neuromuscul Disord 2021 Mar 6. Epub 2021 Mar 6.

UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00168, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Roma, Italy.

Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. Read More

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Evaluating the mental health of children in a local hospital outpatient clinic.

Pediatr Int 2021 Apr 8. Epub 2021 Apr 8.

Department of Pediatrics, Haga Red Cross Hospital, 271 Nakagou Mouka, Tochigi, 321-4306, Japan.

Background: The Questionnaire for Triage and Assessment with 30 items (QTA30) is a standardized triage and assessment tool to assess pediatric psychosomatic disorders. It was estimated that one in ten children experience difficulties with regard to their school life in Japan. We evaluated mental health in children at an outpatient clinic in a local hospital with the QTA30. Read More

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Assessment and Management of Acute Disseminated Encephalomyelitis (ADEM) in the Pediatric Patient.

Authors:
Cynthia X Wang

Paediatr Drugs 2021 Apr 8. Epub 2021 Apr 8.

Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical School, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of the central nervous system that typically presents in childhood and is associated with encephalopathy and multifocal brain lesions. Although ADEM is thought to be a post-infectious disorder, the etiology is still poorly understood. ADEM is often a monophasic disorder, in contrast to other demyelinating disorders such as multiple sclerosis and neuromyelitis optica spectrum disorder. Read More

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Clinical and Pathophysiologic Spectrum of Neuro-COVID.

Mol Neurobiol 2021 Apr 8. Epub 2021 Apr 8.

Disciplina de Neurociência, Universidade Federal de São Paulo/Escola Paulista de Medicina (UNIFESP/EPM), São Paulo, Brasil.

Though the lungs are predominantly affected in SARS-CoV-2-infected patients, extra-pulmonary manifestations can occur. Extra-pulmonary manifestations of the central and peripheral nervous system need to be recognised as they can strongly determine the outcome. This mini-review summarises and discusses previous and recent findings about neuro-COVID. Read More

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Association of blood pressure, obesity and physical activity with arterial stiffness in children: a systematic review and meta-analysis.

Pediatr Res 2021 Apr 6. Epub 2021 Apr 6.

Department of Sport, Exercise and Health, Medical Faculty, University of Basel, Basel, Switzerland.

Central pulse wave velocity (cPWV) is a biomarker for cardiovascular (CV) risk and a predictor for CV events in adulthood. Alterations of arterial stiffness have also been associated with CV risk in childhood. The study aimed to systematically review and meta-analyze the association of blood pressure (BP), body mass index (BMI), and cardiorespiratory fitness (CRF) with cPWV in children. Read More

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Sympathetic context of the disease - a new era in glaucoma management.

Rom J Ophthalmol 2021 Jan-Mar;65(1):15-19

Ophthalmology Department, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

Primary open angle glaucoma (POAG) is a multifactorial optic neuropathy, which progresses in a chronic manner. Several etiological factors are involved, including genetic factors, race, age, IOP or vascular, systemic factors. IOP has an established role in the initiation and evolution of glaucoma, but its interactions with additional risk factors are complex. Read More

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A Common 3'UTR Variant of the Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population.

Front Neurol 2021 19;12:642735. Epub 2021 Mar 19.

Laboratorio di Genetica e Genomica delle Malattie Rare, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genoa, Italy.

Heterozygous mutations in the Paired like homeobox 2b () gene are causative of congenital central hypoventilation syndrome (CCHS), a rare monogenic disorder belonging to the family of neurocristopathies and due to a defective development of the autonomic nervous system. Most patients manifest sudden symptoms within 1 year of birth, mainly represented by central apnea and cyanosis episodes. The sudden appearance of hypoxic manifestations in CCHS and their occurrence during sleep resemble two other unexplained perinatal disorders, apparent life-threatening event (ALTE) and sudden and unexpected infant death (SUID), among which the vast majority is represented by sudden infant death syndrome (SIDS). Read More

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"Eye" Don't See: An Analysis of Visual Symptom Reporting by Stroke Survivors from a Large Epidemiology Study.

J Stroke Cerebrovasc Dis 2021 Apr 1;30(6):105759. Epub 2021 Apr 1.

Department of Health Services Research, University of Liverpool, Waterhouse Building Block B, 2nd floor, 1-5 Brownlow Street, Liverpool L69 3GL, United Kingdom. Electronic address:

Aim: The purpose was to explore the reported symptoms of post-stroke visual impairment from a large multi-centre prospective epidemiology study.

Methods: Visual assessment, including a case history, visual acuity, ocular alignment, ocular motility, visual fields, visual inattention and visual perception, was attempted for all stroke admissions to three acute stroke units.

Results: Of 1500 stroke admissions, 1204 received a visual assessment, of which 867 had one or more visual impairments. Read More

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Associations between Genotypes, Phenotypes, and Clinical Parameters of Human Disease: A Review.

J Fungi (Basel) 2021 Mar 30;7(4). Epub 2021 Mar 30.

Division of Infectious Diseases, Department of Medicine, Duke University, Durham, NC 27710, USA.

The genus contains two primary species complexes that are significant opportunistic human fungal pathogens: and C. In humans, cryptococcosis can manifest in many ways, but most often results in either pulmonary or central nervous system disease. Patients with cryptococcosis can display a variety of symptoms on a spectrum of severity because of the interaction between yeast and host. Read More

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Overcoming the Elusiveness of Neurosarcoidosis: Learning from Five Complex Cases.

Neurol Int 2021 Mar 25;13(2):130-142. Epub 2021 Mar 25.

Department of Neurology, Rockefeller Neuroscience Institute, West Virginia University, Morgantown, WV 26505, USA.

The involvement of the central nervous system in sarcoidosis can manifest with a variety of neurological symptoms, and most of them can be nonspecific. The diagnosis of neurosarcoidosis (NS) can therefore be very challenging without a tissue biopsy. Both computed tomography (CT) and magnetic resonance imaging (MRI) are important imaging modalities in the diagnosis of NS, and MRI is the modality of choice due to its superior soft-tissue contrast resolution. Read More

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From simulation room to clinical practice: Postgraduate neonatal nursing students' transfer of learning from in-situ resuscitation simulation with interprofessional team to clinical practice.

Nurse Educ Pract 2021 Mar 6;52:102994. Epub 2021 Mar 6.

Department of Master and Postgraduate Education, Lovisenberg Diaconal University College, Oslo, Norway; Oslo University Hospital, The Department of Paediatric and Adolescent Medicine, Oslo, Norway. Electronic address:

The purpose of this study was to investigate how postgraduate neonatal nursing students transfer learning from in-situ resuscitation simulation with interprofessional teams to clinical practice. It is essential that healthcare professionals involved in stabilization and resuscitation of newborns master technical (e.g. Read More

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Hemicraniectomy and externalized ventricular drain placement in a pediatric patient with myelin oligodendrocyte glycoprotein-associated tumefactive demyelinating disease.

Childs Nerv Syst 2021 Apr 2. Epub 2021 Apr 2.

Division of Neurosurgery, Children's Hospital of Philadelphia, Department of Neurosurgery, University of Pennsylvania, Perelman School of Medicine, 3401 Civic Center Blvd, 6 Wood Center, Philadelphia, PA, 19104, USA.

Background: Acquired demyelination of the central nervous system in children can manifest as multiple sclerosis, neuromyelitis optica, myelin oligodendrocyte glycoprotein (MOG)-associated demyelination, or as an acute monophasic illness without serum antibodies. Rarely do patients with demyelinating disease need surgical intervention for fulminant crises.

Case: We report a case of anti-MOG antibody-related tumefactive demyelination in a 10-year-old female who required urgent hemicraniectomy and external ventricular drain placement for progressive white matter edema with obstructive hydrocephalus, subfalcine, and transtentorial herniation. Read More

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Perinatal Hypoxemia and Oxygen Sensing.

Compr Physiol 2021 Apr 1;11(2):1653-1677. Epub 2021 Apr 1.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

The development of the control of breathing begins in utero and continues postnatally. Fetal breathing movements are needed for establishing connectivity between the lungs and central mechanisms controlling breathing. Maturation of the control of breathing, including the increase of hypoxia chemosensitivity, continues postnatally. Read More

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The Pregravid Vascular Risk Factor Profile of Low-Risk Women Who Develop Pregnancy Outcomes That Predict Future Cardiovascular Disease.

Womens Health Rep (New Rochelle) 2021 23;2(1):62-70. Epub 2021 Mar 23.

Leadership Sinai Centre for Diabetes, Mount Sinai Hospital, Toronto, Ontario, Canada.

Women with a history of certain adverse outcomes in pregnancy (preterm birth, delivery of a small-for-gestational age [SGA] infant, preeclampsia, and gestational diabetes mellitus [GDM]) have an elevated lifetime prevalence of metabolic syndrome (MetS) and cardiovascular disease, compared with their peers. However, it is not known if MetS precedes the index pregnancy in young, nulliparous women who experience these antepartum outcomes. Thus, we sought to evaluate the relationship between pregravid cardiovascular risk factor profile and these pregnancy outcomes in low-risk women. Read More

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Asparagine Synthetase-Mediated l-Asparagine Metabolism Disorder Promotes the Perineural Invasion of Oral Squamous Cell Carcinoma.

Front Oncol 2021 10;11:637226. Epub 2021 Mar 10.

Central Laboratory of Stomatology, Nanjing Stomatological Hospital, Medical School of Nanjing University, Nanjing, China.

Dysregulated amino acids metabolism reciprocally interplays with evolutionary phenotypic characteristics of cancer cells to enhance metastasis. The high metastasis potential of oral squamous cell carcinoma (OSCC) can manifest with perineural invasion (PNI). We here aimed to determine the role of amino acids metabolism in OSCCs with different PNI statuses. Read More

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Toric intraocular lens power calculation in cataract patients with keratoconus.

J Cataract Refract Surg 2021 Mar 9. Epub 2021 Mar 9.

Ein-Tal Eye Center, Tel Aviv, Israel.

Purpose: Intra-ocular lens (IOL) power calculation in eyes with keratoconus typically results in hyperopic postoperative refractive error. We investigated the visual and refractive outcomes in keratoconus patients having cataract surgery with a toric IOL and compared IOL power calculation accuracy of conventional formulae and keratoconus specific formulae.

Setting: Ein-Tal Eye Center, Tel-Aviv, Israel. Read More

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Early alterations of neurovascular unit in the retina in mouse models of tauopathy.

Acta Neuropathol Commun 2021 03 24;9(1):51. Epub 2021 Mar 24.

Department of Ophthalmology and Visual Sciences, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX, 77555-0144, USA.

The retina, as the only visually accessible tissue in the central nervous system, has attracted significant attention for evaluating it as a biomarker for neurodegenerative diseases. Yet, most of studies focus on characterizing the loss of retinal ganglion cells (RGCs) and degeneration of their axons. There is no integrated analysis addressing temporal alterations of different retinal cells in the neurovascular unit (NVU) in particular retinal vessels. Read More

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Pediatric inflammatory demyelinating disorders and mimickers: How to differentiate with MRI?

Autoimmun Rev 2021 Mar 14:102801. Epub 2021 Mar 14.

Neuroradiology of the Radiology Department UNICAMP, Brazil; UNICAMP, Brazil.

Multiple sclerosis (MS) is a chronic, immune-mediated, neurodegenerative disorder of the central nervous system (CNS).While the clinical symptoms of MS most commonly manifest between 20 and 40 years of age, approximately 3 to 10% of all MS patients report that their first inaugural events can occur earlier in life, even in childhood, and thus include the pediatric population. The prevalence of MS onset in childhood/adolescence varies between 2. Read More

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Aging lens epithelium is susceptible to ferroptosis.

Free Radic Biol Med 2021 Mar 17;167:94-108. Epub 2021 Mar 17.

Department of Cellular Biology and Anatomy, Medical College of Georgia at Augusta University, Augusta, Georgia. Electronic address:

Age-related cataracts (ARC) are the primary cause of blindness worldwide, and oxidative stress is considered the central pathogenesis of age-related cataractogenesis. Interestingly, ample evidence suggests that there is no remarkable apoptosis present in aged and cataractous human lenses despite the profound disruption of redox homeostasis, raising an essential question regarding the existence of other cell death mechanisms. Here we sought to explore the lens epithelial cell's (LEC) susceptibility to ferroptosis after documentation has concluded that aged and cataractous human lenses manifest with increased reactive oxygen species (ROS) formation, elevated lipid peroxidation, and accumulative intracellular redox-active iron, constituting the three hallmarks of ferroptosis during aging and cataractogenesis. Read More

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[The effect of nanoscale zirconium-porphyrin metal-organic framework on zebrafish embryonic neurodevelopment].

Zhongguo Ying Yong Sheng Li Xue Za Zhi 2020 Nov;36(6):662-667

Tianjin Eye Hospital, Tianjin 300020.

To investigate the effect of nanoscale zirconium-porphyrin metal-organic framework (NPMOF) on the development of nervous system in larval zebrafish. Embryos of zebrafish were incubated to E3 medium (=500) or 100 mg/L NPMOF-E3 medium (=500) from 6 hours post fertilization (hpf) to 28, 48, 72, 96 or 120 hpf. At 28, 48, 72, 96 and 120 hpf, 60 fish were collected respectively for quantitative real-time PCR in both groups. Read More

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November 2020

Epitaxial Single-Crystal Growth of Transition Metal Dichalcogenide Monolayers via the Atomic Sawtooth Au Surface.

Adv Mater 2021 Mar 10:e2006601. Epub 2021 Mar 10.

Center for Integrated Nanostructure Physics (CINAP), Institute for Basic Science (IBS), Sungkyunkwan University, Suwon, 16419, Republic of Korea.

Growth of 2D van der Waals layered single-crystal (SC) films is highly desired not only to manifest the intrinsic physical and chemical properties of materials, but also to enable the development of unprecedented devices for industrial applications. While wafer-scale SC hexagonal boron nitride film has been successfully grown, an ideal growth platform for diatomic transition metal dichalcogenide (TMdC) films has not been established to date. Here, the SC growth of TMdC monolayers on a centimeter scale via the atomic sawtooth gold surface as a universal growth template is reported. Read More

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Investigation of Cerebral White Matter Changes After Spinal Cord Injury With a Measure of Fiber Density.

Front Neurol 2021 22;12:598336. Epub 2021 Feb 22.

Department of Neuroradiology, University Hospital of Zurich, Zurich, Switzerland.

Remote neurodegenerative changes in supraspinal white matter (WM) can manifest after central lesions such as spinal cord injury (SCI). The majority of diffusion tensor imaging (DTI) studies use traditional metrics such as fractional anisotropy (FA) and mean diffusivity (MD) to investigate microstructural changes in cerebral WM after SCI. However, interpretation of FA readouts is often challenged by inherent limitations of the tensor model. Read More

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February 2021

Screening traumatic life events in preschool aged children: cultural adaptation of Child and Adolescent Trauma Screen (CATS) Caregiver-report 3-6 years version.

Turk J Pediatr 2021 ;63(1):95-101

Departments of Developmental Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Given the high prevalence of potentially traumatic events (PTEs), pediatric providers are in a novel position in early identification and referral of the children with PTEs. Yet paucity of culturally adapted instruments to screen PTEs and related symptoms in preschool-aged children limits pediatric providers. This multicenter study aimed to screen the traumatic life events of preschool-aged children admitted to pediatric outpatient clinics at four different cities of Turkey and to determine the socio-demographic risk factors associated with PTEs. Read More

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January 2021

The Complexities Associated with Caring for Hospitalised Infants with Neonatal Abstinence Syndrome: The Perspectives of Nurses and Midwives.

Children (Basel) 2021 Feb 17;8(2). Epub 2021 Feb 17.

School of Nursing and Midwifery, Western Sydney University, Penrith, NSW 2751, Australia.

The global incidence of Neonatal Abstinence Syndrome (NAS) has increased significantly in the last decade. Symptoms of NAS manifest from the central and autonomic nervous systems as well as the gastrointestinal system and vary in severity and duration. The clinical management of infants experiencing NAS is dependent on symptoms and may include both pharmacological and non-pharmacological measures. Read More

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February 2021

Flowering Phenology Adjustment and Flower Longevity in a South American Alpine Species.

Plants (Basel) 2021 Feb 28;10(3). Epub 2021 Feb 28.

Departamento de Botánica, Facultad de Ciencias Naturales & Oceanográficas, Universidad de Concepción, Casilla 160C, 4030000 Concepción, Chile.

Delayed flowering due to later snowmelt and colder temperatures at higher elevations in the alpine are expected to lead to flowering phenological adjustment to prevent decoupling of peak flowering from the warmest time of the year, thereby favoring pollination. However, even if flowering is brought forward in the season at higher elevations, an elevational temperature gap is likely to remain between the high- and low-elevation populations of a species at the time these reach peak flowering on account of the atmospheric reduction in temperature with increasing elevation. The negative effect of this temperature gap on pollination could be compensated by plastically-prolonged flower life spans at higher elevations, increasing the probability of pollination. Read More

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February 2021

Neonatal Seizures Revisited.

Children (Basel) 2021 Feb 18;8(2). Epub 2021 Feb 18.

Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.

Seizures are the most common neurological disorder in newborns and are most prevalent in the neonatal period. They are mostly caused by severe disorders of the central nervous system (CNS). However, they can also be a sign of the immaturity of the infant's brain, which is characterized by the presence of specific factors that increase excitation and reduce inhibition. Read More

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February 2021

Severe Vaso-Occlusive Retinopathy in Systemic Lupus Erythematosus: A Case Series.

Cureus 2021 Jan 30;13(1):e13019. Epub 2021 Jan 30.

Vitreo-Retina, Disha Eye Hospital, Kolkata, IND.

This study aims to describe the clinical profile of severe vaso-occlusive retinal disorders in patients with systemic lupus erythematosus (SLE) and it is a retrospective case series. The clinical characteristics of three patients with SLE with vascular occlusions in four eyes were described. Branch retinal artery occlusion (BRAO) was present in all three patients with combined non-ischemic central retinal vein occlusion (NICRVO) in one patient and evolving ischemic CRVO in another patient. Read More

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January 2021

The emerging role of estrogen related receptorα in complications of non-small cell lung cancers.

Oncol Lett 2021 Apr 4;21(4):258. Epub 2021 Feb 4.

Division of Respiratory, Critical Care and Occupational Pulmonary Medicine, University of Utah, Salt Lake City, UT 84132, USA.

Approximately 85% of lung cancer cases are recognized as non-small cell lung cancer (NSCLC) with a perilous (13-17%) 5-year survival in Europe and the USA. Although tobacco smoking has consistently emerged as the leading cause of NSCLC complications, its consequences are distinctly manifest with respect to sex bias, due to differential gene and sex hormone expression. Estrogen related receptor α (ERRα), a member of the nuclear orphan receptor superfamily is normally expressed in the lungs, and activates various nuclear genes without binding to the ligands, such as estrogens. Read More

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Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.

South Med J 2021 Mar;114(3):169-173

From Gastroenterology Associates of Central Virginia, Lynchburg.

Objectives: Immunoglobulin E (IgE) to galactose-α-1,3-galactose (alpha-gal) is a recently appreciated cause of allergic reactions to mammalian meat and dairy. In eastern North America Lone Star tick bites are the dominant mode of sensitization. Classically the alpha-gal syndrome manifests with urticaria, gastrointestinal symptoms, and/or anaphylaxis, but increasingly there are reports of isolated gastrointestinal symptoms without other common allergic manifestations. Read More

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