Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 6.725
Filtrar
2.
Rev Med Virol ; 30(5): e2118, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32687681

RESUMO

Human Coronaviruses (HCoVs) have long been known as respiratory viruses. However, there are reports of neurological findings in HCoV infections, particularly in patients infected with the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) amid Coronavirus disease 2019 (COVID-19) pandemic. Therefore, it is essential to interpret the interaction of HCoVs and the nervous system and apply this understanding to the COVID-19 pandemic. This review of the literature analyses how HCoVs, in general, and SARS-CoV-2, in particular, affect the nervous system, highlights the various underlying mechanisms, addresses the associated neurological and psychiatric manifestations, and identifies the neurological risk factors involved. This review of literature shows the magnitude of neurological conditions associated with HCoV infections, including SARS-CoV-2. This review emphasises, that, during HCoV outbreaks, such as COVID-19, a focus on early detection of neurotropism, alertness for the resulting neurological complications, and the recognition of neurological risk factors are crucial to reduce the workload on hospitals, particularly intensive-care units and neurological departments.


Assuntos
Encefalopatias/epidemiologia , Infecções por Coronavirus/epidemiologia , Encefalite Viral/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Síndrome Respiratória Aguda Grave/epidemiologia , Betacoronavirus/patogenicidade , Encefalopatias/fisiopatologia , Encefalopatias/virologia , Infecções por Coronavirus/mortalidade , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/virologia , Encefalite Viral/fisiopatologia , Encefalite Viral/virologia , Humanos , Coronavírus da Síndrome Respiratória do Oriente Médio/patogenicidade , Sistema Nervoso/fisiopatologia , Sistema Nervoso/virologia , Pneumonia Viral/mortalidade , Pneumonia Viral/fisiopatologia , Pneumonia Viral/virologia , Vírus da SARS/patogenicidade , Síndrome Respiratória Aguda Grave/mortalidade , Síndrome Respiratória Aguda Grave/fisiopatologia , Síndrome Respiratória Aguda Grave/virologia , Índice de Gravidade de Doença , Análise de Sobrevida
5.
Ideggyogy Sz ; 73(05-06): 171-175, 2020 05 30.
Artigo em Húngaro | MEDLINE | ID: mdl-32579306

RESUMO

By the spring of 2020 the COVID-19 outbreak caused by the new SARS-CoV-2 coronavirus has become a pandemic, requiring fast and efficient reaction from societies and health care systems all over the world. Fever, coughing and dyspnea are considered the major signs of COVID-19. In addition to the involvement of the respiratory system, the infection may result in other symptoms and signs as well. Based on reports to date, neurological signs or symptoms appear in 30-50% of hospitalized COVID-19 patients, with higher incidence in those with more severe disease. Classical acute neurological syndromes have also been reported to associate with COVID-19. A drop in the volume of services for other acute diseases has been described in countries with healthcare systems focusing on COVID-19. During the COVID-19 epidemic it is also important to provide appropriate continuous care for those with chronic neurological disorders. It will be the task of the future to estimate the collateral damage caused by the COVID-19 epidemic on the outcome of other neurological disorders, and to screen for the possible late neurological complications of the SARS-CoV-2 coronavirus infection.


Assuntos
Encefalopatias/virologia , Infecções por Coronavirus , Coronavirus , Doenças do Sistema Nervoso/virologia , Sistema Nervoso/virologia , Pandemias , Pneumonia Viral , Betacoronavirus , Encefalopatias/fisiopatologia , Infecções por Coronavirus/epidemiologia , Disgeusia/fisiopatologia , Disgeusia/virologia , Humanos , Sistema Nervoso/fisiopatologia , Doenças do Sistema Nervoso/fisiopatologia , Transtornos do Olfato/fisiopatologia , Transtornos do Olfato/virologia , Pneumonia Viral/epidemiologia
6.
Ann Neurol ; 88(1): 1-11, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32506549

RESUMO

In less than 6 months, the severe acute respiratory syndrome-coronavirus type 2 (SARS-CoV-2) has spread worldwide infecting nearly 6 million people and killing over 350,000. Initially thought to be restricted to the respiratory system, we now understand that coronavirus disease 2019 (COVID-19) also involves multiple other organs, including the central and peripheral nervous system. The number of recognized neurologic manifestations of SARS-CoV-2 infection is rapidly accumulating. These may result from a variety of mechanisms, including virus-induced hyperinflammatory and hypercoagulable states, direct virus infection of the central nervous system (CNS), and postinfectious immune mediated processes. Example of COVID-19 CNS disease include encephalopathy, encephalitis, acute disseminated encephalomyelitis, meningitis, ischemic and hemorrhagic stroke, venous sinus thrombosis, and endothelialitis. In the peripheral nervous system, COVID-19 is associated with dysfunction of smell and taste, muscle injury, the Guillain-Barre syndrome, and its variants. Due to its worldwide distribution and multifactorial pathogenic mechanisms, COVID-19 poses a global threat to the entire nervous system. Although our understanding of SARS-CoV-2 neuropathogenesis is still incomplete and our knowledge is evolving rapidly, we hope that this review will provide a useful framework and help neurologists in understanding the many neurologic facets of COVID-19. ANN NEUROL 2020;88:1-11 ANN NEUROL 2020;88:1-11.


Assuntos
Betacoronavirus , Infecções por Coronavirus/fisiopatologia , Doenças do Sistema Nervoso/fisiopatologia , Pneumonia Viral/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/fisiopatologia , Isquemia Encefálica/etiologia , Isquemia Encefálica/fisiopatologia , Infecções por Coronavirus/complicações , Coagulação Intravascular Disseminada/etiologia , Coagulação Intravascular Disseminada/fisiopatologia , Encefalite/etiologia , Encefalite/fisiopatologia , Encefalomielite Aguda Disseminada/etiologia , Encefalomielite Aguda Disseminada/fisiopatologia , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/fisiopatologia , Humanos , Inflamação , Hemorragias Intracranianas/etiologia , Hemorragias Intracranianas/fisiopatologia , Leucoencefalite Hemorrágica Aguda/etiologia , Leucoencefalite Hemorrágica Aguda/fisiopatologia , Meningite Viral/etiologia , Meningite Viral/fisiopatologia , Doenças do Sistema Nervoso/etiologia , Transtornos do Olfato/etiologia , Transtornos do Olfato/fisiopatologia , Pandemias , Pneumonia Viral/complicações , Trombose dos Seios Intracranianos/etiologia , Trombose dos Seios Intracranianos/fisiopatologia , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/fisiopatologia , Trombofilia/etiologia , Trombofilia/fisiopatologia
7.
Clin Neurophysiol ; 131(8): 2023-2031, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32405259

RESUMO

There are questions and challenges regarding neurologic complications in COVID-19 patients. EEG is a safe and efficient tool for the evaluation of brain function, even in the context of COVID-19. However, EEG technologists should not be put in danger if obtaining an EEG does not significantly advance diagnosis or change management in the patient. Not every neurologic problem stems from a primary brain injury: confusion, impaired consciousness that evolves to stupor and coma, and headaches are frequent in hypercapnic/hypoxic encephalopathies. In patients with chronic pulmonary disorders, acute symptomatic seizures have been reported in acute respiratory failure in 6%. The clinician should be aware of the various EEG patterns in hypercapnic/hypoxic and anoxic (post-cardiac arrest syndrome) encephalopathies as well as encephalitides. In this emerging pandemic of infectious disease, reduced EEG montages using single-use subdermal EEG needle electrodes may be used in comatose patients. A full 10-20 EEG complement of electrodes with an ECG derivation remains the standard. Under COVID-19 conditions, an expedited study that adequately screens for generalized status epilepticus, most types of regional status epilepticus, encephalopathy or sleep may serve for most clinical questions, using simplified montages may limit the risk of infection to EEG technologists. We recommend noting whether the patient is undergoing or has been placed prone, as well as noting the body and head position during the EEG recording (supine versus prone) to avoid overinterpretation of respiratory, head movement, electrode, muscle or other artifacts. There is slight elevation of intracranial pressure in the prone position. In non-comatose patients, the hyperventilation procedure should be avoided. At present, non-specific EEG findings and abnormalities should not be considered as being specific for COVID-19 related encephalopathy.


Assuntos
Encefalopatias/fisiopatologia , Infecções por Coronavirus/complicações , Eletroencefalografia/métodos , Pneumonia Viral/complicações , Guias de Prática Clínica como Assunto , Encefalopatias/diagnóstico , Encefalopatias/etiologia , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/terapia , Cuidados Críticos/métodos , Cuidados Críticos/normas , Eletroencefalografia/instrumentação , Eletroencefalografia/normas , Humanos , Pandemias , Posicionamento do Paciente/métodos , Pneumonia Viral/diagnóstico , Pneumonia Viral/terapia
8.
Am J Emerg Med ; 38(7): 1549.e3-1549.e7, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32425321

RESUMO

BACKGROUND: Much of the focus regarding the global pandemic of coronavirus disease of 2019 (COVID-19) has been on the cardiovascular, pulmonary, and hematologic complications. However, neurologic complications have arisen as an increasingly recognized area of morbidity and mortality. OBJECTIVE: This brief report summarizes the neurologic complications associated with COVID-19 with an emphasis on the emergency medicine clinician. DISCUSSION: COVID-19 has infected over 3.5 million people and killed over 240,000 people worldwide. While pulmonary complications are profound, the neurologic system is also significantly impacted, with complications including acute cerebrovascular events, encephalitis, Guillain-Barré syndrome, acute necrotizing hemorrhagic encephalopathy, and hemophagocytic lymphohistiocytosis. Additionally, patients on immunosuppressive medications for pre-existing neurologic issues are at an increased risk for complications with COVID-19 infection, and many of the currently proposed COVID-19 therapies can interact with these medications. CONCLUSIONS: When caring for COVID-19 patients, emergency medicine clinicians should be aware of the neurologic complications from COVID-19.


Assuntos
Infecções por Coronavirus/fisiopatologia , Pneumonia Viral/fisiopatologia , Betacoronavirus , Encefalopatias/etiologia , Encefalopatias/fisiopatologia , Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/fisiopatologia , Infecções por Coronavirus/complicações , Encefalite/etiologia , Encefalite/fisiopatologia , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/fisiopatologia , Humanos , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/fisiopatologia , Pandemias , Pneumonia Viral/complicações
9.
J Neurol ; 267(9): 2485-2489, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32458197

RESUMO

Coronavirus disease 2019 (COVID-19) has become a pandemic disease globally. While it mostly presents with respiratory symptoms, it has already been found that it could manifest with a series of neurological symptoms as well, either at presentation or during the course of the disease. Symptoms vary from non-specific such as headache or dizziness to more specific such as convulsions and cerebrovascular disease (CVD). This study aims to give an overview of the neurological manifestations of COVID-19 and discuss the potential pathogenetic mechanisms of central nervous system (CNS) involvement. Clinicians and especially internists, neurologists, and infectious disease specialists should be aware of these symptoms and able to recognize them early. Prompt diagnosis and immediate management of the neurological manifestations of the novel coronavirus will not only improve the prognosis of COVID-19 patients but will also prevent the dissemination of the disease due to misdiagnosed cases.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/fisiopatologia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/fisiopatologia , Pneumonia Viral/epidemiologia , Pneumonia Viral/fisiopatologia , Encefalopatias/sangue , Encefalopatias/epidemiologia , Encefalopatias/fisiopatologia , Transtornos Cerebrovasculares/sangue , Transtornos Cerebrovasculares/epidemiologia , Transtornos Cerebrovasculares/fisiopatologia , Infecções por Coronavirus/sangue , Humanos , Doenças do Sistema Nervoso/sangue , Pandemias , Pneumonia Viral/sangue
10.
ACS Chem Neurosci ; 11(9): 1204-1205, 2020 05 06.
Artigo em Inglês | MEDLINE | ID: covidwho-133102

RESUMO

With the ongoing pandemic of coronavirus disease (COVID-19) caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), our knowledge of the pathogenesis of COVID-19 is still in its infancy. Almost every aspect of the pathogen remains largely unknown, ranging from mechanisms involved in infection transmission, interplay with the human immune system, and covert mechanisms of end-organ damage. COVID-19 has manifested itself worldwide with a syndromic appearance that is dominated by respiratory dysregulations. While clinicians are focused on correcting respiratory homeostasis, echoing the original SARS, SARS-CoV-2 is also invading other end-organs, which may not exhibit overt clinical features. Nervous system involvement was not initially considered to play a significant role in patients with COVID-19. However, since this viewpoint was initially published, multiple studies have been released regarding the possible neurovirulence of SARS-CoV-2. In our previous viewpoint, we implored our colleagues to recognize the covert tactics of SARS-CoV-2 and emphasized that symptoms like anosmia, dysgeusia, ataxia, and altered mental status could be early signs of the neurotropic potential of this virus. The past few weeks, after the viewpoint surfaced, it was noticed that it has enabled clinicians and healthcare professionals to compute the neurovirulence associated with SARS-CoV-2 in COVID-19 patients, as evidenced by very recently reported studies.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/virologia , Sistema Nervoso/fisiopatologia , Sistema Nervoso/virologia , Pneumonia Viral/fisiopatologia , Pneumonia Viral/virologia , Encefalopatias/fisiopatologia , Encefalopatias/virologia , Disgeusia/fisiopatologia , Disgeusia/virologia , Humanos , Transtornos do Olfato/fisiopatologia , Transtornos do Olfato/virologia , Pandemias
11.
ACS Chem Neurosci ; 11(9): 1204-1205, 2020 05 06.
Artigo em Inglês | MEDLINE | ID: mdl-32343122

RESUMO

With the ongoing pandemic of coronavirus disease (COVID-19) caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), our knowledge of the pathogenesis of COVID-19 is still in its infancy. Almost every aspect of the pathogen remains largely unknown, ranging from mechanisms involved in infection transmission, interplay with the human immune system, and covert mechanisms of end-organ damage. COVID-19 has manifested itself worldwide with a syndromic appearance that is dominated by respiratory dysregulations. While clinicians are focused on correcting respiratory homeostasis, echoing the original SARS, SARS-CoV-2 is also invading other end-organs, which may not exhibit overt clinical features. Nervous system involvement was not initially considered to play a significant role in patients with COVID-19. However, since this viewpoint was initially published, multiple studies have been released regarding the possible neurovirulence of SARS-CoV-2. In our previous viewpoint, we implored our colleagues to recognize the covert tactics of SARS-CoV-2 and emphasized that symptoms like anosmia, dysgeusia, ataxia, and altered mental status could be early signs of the neurotropic potential of this virus. The past few weeks, after the viewpoint surfaced, it was noticed that it has enabled clinicians and healthcare professionals to compute the neurovirulence associated with SARS-CoV-2 in COVID-19 patients, as evidenced by very recently reported studies.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/fisiopatologia , Infecções por Coronavirus/virologia , Sistema Nervoso/fisiopatologia , Sistema Nervoso/virologia , Pneumonia Viral/fisiopatologia , Pneumonia Viral/virologia , Encefalopatias/fisiopatologia , Encefalopatias/virologia , Disgeusia/fisiopatologia , Disgeusia/virologia , Humanos , Transtornos do Olfato/fisiopatologia , Transtornos do Olfato/virologia , Pandemias
12.
Life Sci ; 252: 117654, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32277979

RESUMO

BACKGROUND: Septic encephalopathy, the most frequent complication of sepsis, is orchestrated by a complex interplay of signals that leads to high mortality rates among intensive care unit patients. However, the role of the vascular endothelial growth factor receptor-2 (VEGFR2) in endoplasmic reticulum stress response (ERSR), during septic encephalopathy, is still elusive. AIM: This study was aimed to examine the effect of an in-house designed/synthesized VEGFR2 antagonist, named WAG4S, on septic encephalopathy using cecal ligation and perforation (CLP). MAIN METHODS: Rats were intraperitoneally injected with WAG-4S (1 mg/kg/d) for 7 days post-CLP. KEY FINDINGS: In septic animals, VEGFR2 antagonism declined the expression of cortical p-VEGFR2 and p-mammalian target of rapamycin complex-1 (p-mTORC1). It also worsened the behavioral and histopathological alterations beyond CLP. However, and contrary to CLP, WAG-4S decreased the p-protein kinase R-like ER kinase (p-PERK) and eukaryotic initiation factor-2α (p-eIF2α) expression. Moreover, VEGFR2 blockade upregulated the mRNA expression of activating transcription factor-4 (ATF4), binding immunoglobulin protein/glucose-regulated protein-78 (Bip/GRP78), growth arrest and DNA damage-34 (GADD34) and spliced X-box binding protein-1 (XBP1s) above CLP. Similarly, it boosted inositol requiring enzyme-1α (IRE1α) activation and redox imbalance. In the same context, WAG-4S augmented the protein levels of CLP-induced ERSR apoptotic markers, namely C/EBP homologous protein (CHOP/GADD153), c-jun N-terminal kinase (JNK) and caspase-3. SIGNIFICANCE: In conclusion, the PERK/eIF2α axis inhibition, during septic encephalopathy, is VEGFR2-independent, whereas the activated IRE1α/XBP1s/CHOP/JNK/caspase-3 cue promotes the ERSR execution module through VEGFR2 inhibition. This has turned VEGFR2 into a potential therapeutic target for ameliorating such an ailment.


Assuntos
Encefalopatias/fisiopatologia , Estresse do Retículo Endoplasmático/fisiologia , Sepse/complicações , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Fator 4 Ativador da Transcrição/genética , Animais , Encefalopatias/etiologia , Encefalopatias/prevenção & controle , Modelos Animais de Doenças , Masculino , RNA Mensageiro/metabolismo , Ratos , Ratos Sprague-Dawley , Sepse/tratamento farmacológico , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/metabolismo , eIF-2 Quinase/metabolismo
15.
Nat Rev Neurol ; 16(3): 137-153, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32094487

RESUMO

Perivascular spaces include a variety of passageways around arterioles, capillaries and venules in the brain, along which a range of substances can move. Although perivascular spaces were first identified over 150 years ago, they have come to prominence recently owing to advances in knowledge of their roles in clearance of interstitial fluid and waste from the brain, particularly during sleep, and in the pathogenesis of small vessel disease, Alzheimer disease and other neurodegenerative and inflammatory disorders. Experimental advances have facilitated in vivo studies of perivascular space function in intact rodent models during wakefulness and sleep, and MRI in humans has enabled perivascular space morphology to be related to cognitive function, vascular risk factors, vascular and neurodegenerative brain lesions, sleep patterns and cerebral haemodynamics. Many questions about perivascular spaces remain, but what is now clear is that normal perivascular space function is important for maintaining brain health. Here, we review perivascular space anatomy, physiology and pathology, particularly as seen with MRI in humans, and consider translation from models to humans to highlight knowns, unknowns, controversies and clinical relevance.


Assuntos
Encefalopatias , Sistema Glinfático/anatomia & histologia , Sistema Glinfático/diagnóstico por imagem , Sistema Glinfático/fisiologia , Animais , Encefalopatias/diagnóstico por imagem , Encefalopatias/patologia , Encefalopatias/fisiopatologia , Humanos
16.
J Glaucoma ; 29(5): 393-400, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32079996

RESUMO

PRECIS: Glaucoma patients presented a decreased occipital pole surface area in both hemispheres. Moreover, these parameters are independently correlated with functional and structural ocular parameters. PURPOSE: The purpose of this study was to evaluate structural brain abnormalities in glaucoma patients using 3-Tesla magnetic resonance imaging and assess their correlation with associated structural and functional ocular findings. PATIENTS AND METHODS: This cross-sectional prospective study included 30 glaucoma patients and 18 healthy volunteers. All participants underwent standard automated perimetry, spectral-domain optical coherence tomography, and 3.0-Tesla magnetic resonance imaging. RESULTS: There was a significant difference between the surface area of the occipital pole in the left hemisphere of glaucoma patients (mean: 1253.9±149.3 mm) and that of control subjects (mean: 1341.9±129.8 mm), P=0.043. There was also a significant difference between the surface area of the occipital pole in the right hemisphere of glaucoma patients (mean: 1910.5±309.4 mm) and that of control subjects (mean: 2089.1±164.2 mm), P=0.029. There was no significant difference between the lingual, calcarine, superior frontal, and inferior frontal gyri of glaucoma patients and those of the control subjects (P>0.05 for all comparisons). The surface area of the occipital pole in the left hemisphere was significantly correlated with perimetry mean deviation values, visual acuity, age, and retinal nerve fiber layer thickness (P=0.001, <0.001, 0.010, and 0.006, respectively). The surface area of the occipital pole in the right hemisphere was significantly correlated with perimetry mean deviation values, visual field indices, visual acuity, age, and retinal nerve fiber layer thickness (P<0.001, 0.007, <0.001, 0.046, and <0.001, respectively). CONCLUSION: Glaucoma patients presented a decreased occipital pole surface area in both hemispheres that independently correlated with functional and structural ocular parameters.


Assuntos
Encefalopatias/diagnóstico por imagem , Glaucoma/diagnóstico por imagem , Imagem por Ressonância Magnética , Lobo Occipital/diagnóstico por imagem , Adulto , Idoso , Encefalopatias/fisiopatologia , Estudos Transversais , Feminino , Glaucoma/fisiopatologia , Humanos , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Lobo Occipital/fisiopatologia , Estudos Prospectivos , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual/fisiologia , Testes de Campo Visual , Campos Visuais/fisiologia
17.
Br J Radiol ; 93(1106): 20190467, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-31899660

RESUMO

Recognition of key concepts of structural and functional anatomy of the cerebellum can facilitate image interpretation and clinical correlation. Recently, the human brain mapping literature has increased our understanding of cerebellar anatomy, function, connectivity with the cerebrum, and significance of lesions involving specific areas.Both the common names and numerically based Schmahmann classifications of cerebellar lobules are illustrated. Anatomic patterns, or signs, of key fissures and white matter branching are introduced to facilitate easy recognition of the major anatomic features. Color-coded overlays of cross-sectional imaging are provided for reference of more complex detail. Examples of exquisite detail of structural and functional cerebellar anatomy at 7 T MRI are also depicted.The functions of the cerebellum are manifold with the majority of areas involved with non-motor association function. Key concepts of lesion-symptom mapping which correlates lesion location to clinical manifestation are introduced, emphasizing that lesions in most areas of the cerebellum are associated with predominantly non-motor deficits. Clinical correlation is reinforced with examples of intrinsic pathologic derangement of cerebellar anatomy and altered functional connectivity due to pathology of the cerebral hemisphere. The purpose of this pictorial review is to illustrate basic concepts of these topics in a cross-sectional imaging-based format that can be easily understood and applied by radiologists.


Assuntos
Cerebelo/anatomia & histologia , Encefalopatias/patologia , Encefalopatias/fisiopatologia , Cerebelo/fisiologia , Imagem de Tensor de Difusão/métodos , Humanos , Imagem por Ressonância Magnética/métodos
18.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
19.
Zhonghua Er Ke Za Zhi ; 58(1): 35-40, 2020 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-31905474

RESUMO

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions: KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.


Assuntos
Encefalopatias/genética , Epilepsia/diagnóstico , Canal de Potássio Kv1.2/genética , Convulsões , Idade de Início , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/complicações , Epilepsia/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Retrospectivos
20.
World Neurosurg ; 136: 136-139, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31954899

RESUMO

BACKGROUND: Encephalopathy is reported to have affected 250,000 people in the United States over the last decade, with considerable morbidity and mortality. Baclofen, a gamma-aminobutyric acid-B agonist that acts on the central nervous system, is the drug most widely used to treat spasticity. Baclofen overdose is a potentially deadly condition that can cause encephalopathy and can result from multiple etiologies. Renal disease can contribute to baclofen overdose and encephalopathy, and there are currently no dosing recommendations for patient's on baclofen with renal impairment. CASE DESCRIPTION: We report an unusual case of a man aged 35 years who presented with persistent fevers, seizures, and normal mentation. The patient presented with intrathecal baclofen use and prior exposure to West Nile Virus. He developed acute kidney injury at hospital secondary to vancomycin use, and mental status declined. CONCLUSIONS: This case highlights that patients with baclofen overdose can initially appear to have serious brain injury, however, full patient recovery can occur in <72 hours. This case provides additional insight into the guidelines for the treatment and management for unknown cause encephalopathy. This case also highlights the link between renal disease, baclofen, and encephalopathy through a review of the literature.


Assuntos
Baclofeno/efeitos adversos , Encefalopatias/induzido quimicamente , Agonistas dos Receptores de GABA-B/efeitos adversos , Espasmo/tratamento farmacológico , Lesão Renal Aguda/induzido quimicamente , Adulto , Antibacterianos/efeitos adversos , Antibacterianos/uso terapêutico , Baclofeno/administração & dosagem , Encefalopatias/complicações , Encefalopatias/fisiopatologia , Eletroencefalografia , Febre/etiologia , Febre/fisiopatologia , Agonistas dos Receptores de GABA-B/administração & dosagem , Humanos , Bombas de Infusão Implantáveis , Infusão Espinal , Masculino , Meropeném/uso terapêutico , Paraplegia/complicações , Convulsões/etiologia , Convulsões/fisiopatologia , Espasmo/etiologia , Traumatismos da Medula Espinal/complicações , Vancomicina/efeitos adversos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA