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1.
Nat Commun ; 12(1): 447, 2021 01 19.
Artigo em Inglês | MEDLINE | ID: mdl-33469018

RESUMO

Cerebrospinal fluid (CSF) provides vital support for the brain. Abnormal CSF accumulation, such as hydrocephalus, can negatively affect perinatal neurodevelopment. The mechanisms regulating CSF clearance during the postnatal critical period are unclear. Here, we show that CSF K+, accompanied by water, is cleared through the choroid plexus (ChP) during mouse early postnatal development. We report that, at this developmental stage, the ChP showed increased ATP production and increased expression of ATP-dependent K+ transporters, particularly the Na+, K+, Cl-, and water cotransporter NKCC1. Overexpression of NKCC1 in the ChP resulted in increased CSF K+ clearance, increased cerebral compliance, and reduced circulating CSF in the brain without changes in intracranial pressure in mice. Moreover, ChP-specific NKCC1 overexpression in an obstructive hydrocephalus mouse model resulted in reduced ventriculomegaly. Collectively, our results implicate NKCC1 in regulating CSF K+ clearance through the ChP in the critical period during postnatal neurodevelopment in mice.


Assuntos
Líquido Cefalorraquidiano/metabolismo , Plexo Corióideo/patologia , Hidrocefalia/patologia , Membro 2 da Família 12 de Carreador de Soluto/metabolismo , Animais , Animais Recém-Nascidos , Plexo Corióideo/diagnóstico por imagem , Plexo Corióideo/crescimento & desenvolvimento , Plexo Corióideo/metabolismo , Dependovirus/genética , Modelos Animais de Doenças , Embrião de Mamíferos , Feminino , Vetores Genéticos/administração & dosagem , Vetores Genéticos/genética , Humanos , Hidrocefalia/congênito , Hidrocefalia/diagnóstico , Hidrocefalia/fisiopatologia , Injeções Intraventriculares , Pressão Intracraniana/fisiologia , Imagem por Ressonância Magnética , Masculino , Camundongos , Camundongos Transgênicos , Membro 2 da Família 12 de Carreador de Soluto/genética
2.
J Clin Neurosci ; 76: 240-243, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32295747

RESUMO

Developmental venous anomaly (DVA) is the most common type of intracranial vascular malformation. These lesions are benign and are considered to be non-pathological variants of normal deep parenchymal veins. Although most of them are asymptomatic, a small subset of them located in aqueductal region have been reported to cause obstructive hydrocephalus. The authors present an interesting case of biventricular hydrocephalus secondary to a DVA located on the proximal aqueduct in an adolescent patient. This case is discussed with in corroboration with current literature and management recommendations.


Assuntos
Angioma Venoso do Sistema Nervoso Central/complicações , Ventrículos Cerebrais/patologia , Hidrocefalia/etiologia , Hidrocefalia/patologia , Adolescente , Aqueduto do Mesencéfalo/diagnóstico por imagem , Aqueduto do Mesencéfalo/patologia , Veias Cerebrais/diagnóstico por imagem , Veias Cerebrais/patologia , Ventrículos Cerebrais/diagnóstico por imagem , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem
4.
World Neurosurg ; 138: 390-397, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32200017

RESUMO

BACKGROUND: Dilatation of Virchow-Robin spaces (dVRS) have been described in the development of hydrocephalic syndromes. We report an unusual case of a type III dVRS presenting as a mimic of normal pressure hydrocephalus (NPH), due to distortion at the level of the cerebral aqueduct. CASE DESCRIPTION: A 59-year-old woman presented with mild traumatic brain injury and possible NPH, due to a history of progressive gait disturbance, recurrent falls, and cognitive decline over a year, in the context of ventriculomegaly. Detailed structural imaging of the brain revealed multiple dilated cystic lesions consistent with dVRS causing distortion at the level of the cerebral aqueduct. Cerebrospinal fluid examination was negative for infection. The patient was treated with endoscopic third ventriculostomy; at 12 months postoperatively, she demonstrated a sustained improvement in gait and stabilization of cognitive decline. CONCLUSIONS: This is an illustrative case of a subacute obstructive hydrocephalus due to a collection of periaqueductal dVRS, leading to an insidious clinical presentation mimicking NPH. We reviewed the literature for key clinical presentations and describe neuroanatomical considerations as well as primary treatment strategies. Various hydrocephalic syndromes may present with classic symptoms from Hakim's triad; such symptoms are not specific to idiopathic NPH. Both endoscopic third ventriculostomy and shunting may be efficacious. In our case, dVRS may serve as both a cause of and compensatory mechanism in a subacute obstructive hydrocephalus of unknown etiology. Our case highlights the need to understand the neuroanatomy of aberrant cerebrospinal fluid spaces in hydrocephalic syndromes. Further studies of dVRS would provide valuable insights into the pathogenesis of hydrocephalus.


Assuntos
Aqueduto do Mesencéfalo/patologia , Sistema Glinfático/patologia , Hidrocefalia/patologia , Mesencéfalo/patologia , Ponte/patologia , Diagnóstico Diferencial , Dilatação Patológica/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Hidrocefalia de Pressão Normal/diagnóstico , Pessoa de Meia-Idade , Ventriculostomia
5.
J Neurol Surg A Cent Eur Neurosurg ; 81(4): 372-376, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32221961

RESUMO

Endometriosis is a disorder in women which is characterized by extrauterine manifestations. We describe a case of cerebellar endometriosis in a 39-year-old woman who underwent posterior fossa decompression multiple times without establishing a correct diagnosis. Her neurologic status progressively worsened due to chronic hydrocephalus and brainstem compression by cysts. Late in the clinical course, histology from the cyst wall was taken that revealed endometriosis with clear cells and positive immunohistology for progesterone and estrogen receptors. Treatment with gestagens was started but did not improve the patient's status. In patients with chronic recurring intracranial cysts and hydrocephalus, cerebral endometriosis should be considered.


Assuntos
Doenças Cerebelares/cirurgia , Cerebelo/cirurgia , Endometriose/cirurgia , Adulto , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Descompressão Cirúrgica , Endometriose/diagnóstico por imagem , Endometriose/patologia , Evolução Fatal , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Hidrocefalia/cirurgia
6.
Dev Med Child Neurol ; 62(7): 799-805, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32060907

RESUMO

AIM: To evaluate the impact of risk factors for intracranial hypertension (ICH) on cerebral cortex thickness in syndromic craniosynostosis. METHOD: ICH risk factors including papilloedema, hydrocephalus, obstructive sleep apnea (OSA), cerebellar tonsillar position, occipitofrontal circumference (OFC) curve deflection, age, and sex were collected from the records of patients with syndromic craniosynostosis (Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen syndromes) and imaging. Magnetic resonance images were analysed and exported for statistical analysis. A linear mixed model was developed to determine correlations with cerebral cortex thickness changes. RESULTS: In total, 171 scans from 107 patients (83 males, 88 females [including repeated scans], mean age 8y 10mo, range 1y 1mo-34y, SD 5y 9mo) were evaluated. Mean cortical thickness in this cohort was 2.78mm (SD 0.17). Previous findings of papilloedema (p=0.036) and of hydrocephalus (p=0.007) were independently associated with cortical thinning. Cortical thickness did not vary significantly by sex (p=0.534), syndrome (p=0.896), OSA (p=0.464), OFC (p=0.375), or tonsillar position (p=0.682). INTERPRETATION: Detection of papilloedema or hydrocephalus in syndromic craniosynostosis is associated with significant changes in cortical thickness, supporting the need for preventative rather than reactive treatment strategies. WHAT THIS PAPER ADDS: Papilloedema is associated with thinning of the cerebral cortex in syndromic craniosynostosis, independently of hydrocephalus.


Assuntos
Córtex Cerebral/patologia , Craniossinostoses/diagnóstico , Hidrocefalia/diagnóstico , Hipertensão Intracraniana/diagnóstico , Papiledema/diagnóstico , Adolescente , Adulto , Córtex Cerebral/diagnóstico por imagem , Criança , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Lactente , Hipertensão Intracraniana/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Papiledema/diagnóstico por imagem , Papiledema/patologia , Fatores de Risco , Síndrome , Adulto Jovem
7.
Fluids Barriers CNS ; 17(1): 8, 2020 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-32106865

RESUMO

BACKGROUND: Hydrocephalus is a common and major complication that affects outcome after intraventricular hemorrhage (IVH). While aging impacts the occurrence of hydrocephalus in patients with IVH this and the underlying mechanisms have received little attention. The present investigation, therefore, studied the impact of aging on hydrocephalus after IVH in a rat model. METHODS: Young and aged (3 and 18 months old, respectively) male Fischer 344 rats had an intraventricular injection of 200 µl autologous blood or saline. Ventricular volume was estimated using magnetic resonance imaging (MRI), while ventricular wall damage, heme oxygenase-1 (HO-1) and epiplexus cell activation were quantified by histological staining and Western blot. Additionally, the impact of intraventricular iron injection was examined in young and aged rats. RESULTS: Intraventricular injection of autologous blood induced hydrocephalus in both young and aged rats but ventricular volumes were larger in aged rats compared to young rats from day 3 to day 14 followed IVH. In addition, ventricular wall damage and periventricular HO-1 upregulation were greater in aged versus young rats on day 1 after IVH. Aged rats also had more choroid plexus epiplexus cells on day 14 after IVH. Additionally, organized hematomas were observed in 23% (3/13) of aged rats but not in young rats after IVH. Organized hematomas in aged rats showed larger T2* lesions on MRI compared to rats with non-organized hematomas. Similar to the effects of IVH, intraventricular injection of iron resulted in more epiplexus cells activation and more severe hydrocephalus in aged compared to young rats. CONCLUSIONS: IVH causes more severe hydrocephalus in aged compared to young rats. Enhanced ventricular wall damage, epiplexus cell activation and iron overload may contribute to this aggravated hydrocephalus development in aged animals.


Assuntos
Envelhecimento , Hemorragia Cerebral Intraventricular/complicações , Hidrocefalia/etiologia , Fatores Etários , Animais , Hemorragia Cerebral Intraventricular/diagnóstico por imagem , Hemorragia Cerebral Intraventricular/patologia , Modelos Animais de Doenças , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Imagem por Ressonância Magnética , Masculino , Ratos , Ratos Endogâmicos F344
8.
J Clin Neurosci ; 73: 85-88, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31987632

RESUMO

BACKGROUND: In severe traumatic brain injury (TBI) patients undergoing decompressive hemicraniectomy (DHC), the rate of post-traumatic hydrocephalus (PTH) is high at 12-36%. Early diagnosis and shunt placement can improve outcomes. Herein, we examined the incidence of and predictors of PTH after craniectomy. METHODS: A retrospective analysis of prospectively collected database of severe TBI patients at a single U.S. Level 1 trauma center from May 2000 to July 2014 was performed. Demographics, Injury Severity Score (ISS), Glasgow Coma Scale (GCS), bleeding pattern and time-to-cranioplasty were analyzed. Glasgow Outcome Scale (GOS) scores at 6 and 12-months were studied. Statistical significance was assessed at p < 0.05. RESULTS: A total of 402 patients were enrolled and 105 patients had DHC. Twenty-two (21.0%) of 105 required ventriculoperitoneal shunt (VPS), compared to 18 (6%) of 297 patients without DHC. There was increased odds ratio for shunting after DHC at 3.62 (95%CI:1.62-8.07; p < 0.01). Mean age at time of DHC was 43.8 ± 17.7 years old, and 81.9% were male. Subdural hematoma (SDH) was most common at 57.1%. Median time from admission to cranioplasty was 63 days. Patients who experienced PTH after DHC were younger (35.5 ± 17.7 versus 46.0 ± 17.7 years, p < 0.01) and had higher ISS scores (35 versus 26, p = 0.04) compared to patients without shunt after DHC. CONCLUSIONS: After severe TBI requiring hemicraniectomy, shunt-dependent hydrocephalus was 21%. Younger patients and higher ISS score were associated with PTH. Shunt-dependent patients achieved similar 6- and 12-month outcomes as those without PTH. Early diagnosis and shunt placement can enhance long-term neurological recovery.


Assuntos
Craniectomia Descompressiva/efeitos adversos , Hidrocefalia/epidemiologia , Hidrocefalia/cirurgia , Adulto , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/epidemiologia , Feminino , Escala de Coma de Glasgow , Escala de Resultado de Glasgow , Humanos , Hidrocefalia/patologia , Incidência , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Derivação Ventriculoperitoneal
9.
Cerebrovasc Dis ; 49(1): 79-87, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31940632

RESUMO

BACKGROUND: Emerging evidence indicates a beneficial effect of mesenchymal stem cell (MSC) transplantation in subarachnoid hemorrhage (SAH). Chronic hydrocephalus is a common complication after SAH, which is associated with subarachnoid fibrosis promoted by transforming growth factor-ß1 (TGF-ß1). This study investigated the effect of human umbilical cord derived MSCs (hUC-MSCs) with TGF-ß1 knockdown on chronic hydrocephalus after SAH. METHODS: About 0.5 mL autologous blood was injected into the cerebellomedullaris cistern of 6-week SD rats to establish SAH model. hUC-MSCs or hUC-MSCs carrying TGF-ß1 knockdown (1 × 105 cells) were intraventricularly transplanted at 1 day before surgery and at P10. Neurological behavior score and water maze test were performed to assess neurological functions. Hydrocephalus was evaluated by Nissl staining. Concentrations of proinflammatory cytokines were measured by enzyme-linked immunosorbent assay. The levels of TGF-ß1, p-Smad2/3, and Smad2/3 were measured using western blotting. RESULTS: Intraventricular hUC-MSCs transplantation significantly attenuated SAH-induced chronic hydrocephalus, upregulation of inflammatory cytokines, and behavioral impairment. Knockdown of TGF-ß1 in hUC-MSCs enhanced these effects. hUC-MSCs also reduced the upregulation of TGF-ß1 levels and Smad2/3 phosphorylation after SAH, and this effect was also enhanced by TGF-ß1 knockdown. CONCLUSION: Transplantation of hUC-MSCs exerts beneficial effect after SAH, possibly be through inhibiting TGF-ß1/Smad2/3 signaling pathway. Knockdown of TGF-ß1 in hUC-MSCs enhanced these effects.


Assuntos
Encéfalo/cirurgia , Hidrocefalia/prevenção & controle , Transplante de Células-Tronco Mesenquimais , Células-Tronco Mesenquimais/metabolismo , Hemorragia Subaracnóidea/cirurgia , Fator de Crescimento Transformador beta1/metabolismo , Cordão Umbilical/citologia , Animais , Comportamento Animal , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/fisiopatologia , Células Cultivadas , Doença Crônica , Citocinas/metabolismo , Modelos Animais de Doenças , Técnicas de Silenciamento de Genes , Humanos , Hidrocefalia/metabolismo , Hidrocefalia/patologia , Hidrocefalia/fisiopatologia , Masculino , Atividade Motora , Fosforilação , Ratos Sprague-Dawley , Proteína Smad2/metabolismo , Proteína Smad3/metabolismo , Hemorragia Subaracnóidea/metabolismo , Hemorragia Subaracnóidea/patologia , Hemorragia Subaracnóidea/fisiopatologia , Fator de Crescimento Transformador beta1/genética
10.
J Neuropathol Exp Neurol ; 79(1): 113-117, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31794012

RESUMO

Hydrocephalus is a rare and devastating complication of mumps encephalitis. The histopathological correlates of mumps infection in central nervous system tissues are not well-characterized. We present the case of a 54-year-old patient who suffered long-term neuropsychiatric sequelae and hydrocephalus as a consequence of a childhood mumps infection. Brain autopsy revealed significant dilation of the lateral and third ventricles. Aqueductal stenosis was not observed on premortem imaging or on gross examination. Histology revealed loss of ependymal epithelium throughout the aqueduct and ventricular system. Macrophage conglomerates were identified within the cerebral aqueduct at the level of the pons in addition to subjacent periaqueductal gliosis and scattered Rosenthal fibers. Together, these findings support primary ependymal injury as a pathophysiological mechanism in the development of chronic hydrocephalus following mumps infection. Finally, we review the existing literature and discuss potential mechanisms of disease.


Assuntos
Encefalite/complicações , Encefalite/patologia , Hidrocefalia/etiologia , Hidrocefalia/patologia , Caxumba/complicações , Caxumba/patologia , Adolescente , Adulto , Encéfalo/patologia , Aqueduto do Mesencéfalo/patologia , Ventrículos Cerebrais/patologia , Criança , Pré-Escolar , Encefalite/psicologia , Epêndima/patologia , Evolução Fatal , Feminino , Gliose/patologia , Humanos , Hidrocefalia/psicologia , Lactente , Macrófagos/patologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Caxumba/psicologia , Ponte/patologia , Adulto Jovem
11.
J Clin Invest ; 130(3): 1446-1452, 2020 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-31794432

RESUMO

Ventriculomegaly and hydrocephalus are associated with loss of function of glycine decarboxylase (Gldc) in mice and in humans suffering from non-ketotic hyperglycinemia (NKH), a neurometabolic disorder characterized by accumulation of excess glycine. Here, we showed that ventriculomegaly in Gldc-deficient mice is preceded by stenosis of the Sylvian aqueduct and malformation or absence of the subcommissural organ and pineal gland. Gldc functions in the glycine cleavage system, a mitochondrial component of folate metabolism, whose malfunction results in accumulation of glycine and diminished supply of glycine-derived 1-carbon units to the folate cycle. We showed that inadequate 1-carbon supply, as opposed to excess glycine, is the cause of hydrocephalus associated with loss of function of the glycine cleavage system. Maternal supplementation with formate prevented both ventriculomegaly, as assessed at prenatal stages, and postnatal development of hydrocephalus in Gldc-deficient mice. Furthermore, ventriculomegaly was rescued by genetic ablation of 5,10-methylene tetrahydrofolate reductase (Mthfr), which results in retention of 1-carbon groups in the folate cycle at the expense of transfer to the methylation cycle. In conclusion, a defect in folate metabolism can lead to prenatal aqueduct stenosis and resultant hydrocephalus. These defects are preventable by maternal supplementation with formate, which acts as a 1-carbon donor.


Assuntos
Ácido Fólico/metabolismo , Formiatos/metabolismo , Glicina Desidrogenase (Descarboxilante)/deficiência , Hidrocefalia/metabolismo , Animais , Ácido Fólico/genética , Glicina Desidrogenase (Descarboxilante)/metabolismo , Hidrocefalia/genética , Hidrocefalia/patologia , Hidrocefalia/prevenção & controle , Metilação , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Camundongos , Camundongos Knockout
12.
Neuroradiol J ; 33(1): 3-16, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31589101

RESUMO

BACKGROUND: Cerebrovascular complications of tuberculous meningitis (TBM) are associated with increased morbidity and mortality. We retrospectively reviewed clinicoradiological findings of 90 TBM patients who presented to a tertiary care hospital, with emphasis on frequency and distribution of infarcts on diffusion imaging and pattern of vascular involvement on magnetic resonance (MR) angiography (MRA). MATERIALS AND METHODS: MR images of 90 TBM patients at presentation (2012-2018) were coanalyzed by two radiologists for tuberculomas, leptomeningeal enhancement (LM), hydrocephalus, infarct and vascular abnormalities. Infarcts were categorized based on location ("tubercular" (TB) or "ischemic" zones) and arterial supply (perforators and cortical branches). Clinical and laboratory findings were correlated with imaging data. RESULTS: Ninety TBM patients (age 10-82 years) were enlisted after application of inclusion criteria. Tuberculomas were most common (100%) followed by LM (84.4%), cerebral infarcts (57.7%) and hydrocephalus (29%). Location-wise, 35% infarcts were in ischemic, 13% in TB and 15% in both zones. According to arterial supply, infarcts equally (50%) involved perforators from the lateral lenticulostriate and posterior cerebral (PCA)/basilar artery (BA) followed by medial lenticulostriate arteries (23%). MRA was available in 74.4% and abnormal in 43.2%. The middle cerebral artery was frequently involved (76%) followed by the anterior cerebral artery (38%), internal carotid artery (31%), PCA and BA. Six had diffuse narrowing with a paucity of distal vessels. Cerebral infarction was associated with hydrocephalus (p = .0019) and vasculitis (p < .001). CONCLUSION: In TBM, strokes are common and mainly involve the perforators and cortical branches. MR is the imaging modality of choice for early diagnosis and timely management.


Assuntos
Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/patologia , Tuberculose Meníngea/complicações , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/patologia , Angiografia por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Centros de Atenção Terciária , Tuberculoma Intracraniano/diagnóstico por imagem , Tuberculoma Intracraniano/etiologia , Tuberculoma Intracraniano/patologia , Tuberculose Meníngea/patologia , Adulto Jovem
13.
Fetal Diagn Ther ; 47(1): 7-14, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30974442

RESUMO

INTRODUCTION: Documentation of histologic findings associated with congenital hydrocephalus in the fetal lamb model is a critical step in evaluating the efficacy of ventriculoamniotic shunting in the human fetus. METHODS: Four fetal sheep had hydrocephalus induced at approximately 95 days' gestation. Two co-twins remained as controls. The ewes were euthanized at term. The lamb brains were fixed in formalin, paraffin-embedded, stained, and analyzed for markers of neuropathology. Astrocytosis, microgliosis, and axonal loss were assessed with immunocytochemistry for glial fibrillary acidic protein, ionized calcium-binding adapter, and neurofilament/amyloid precursor protein, respectively. Cortical gray matter extracellular matrix was assessed with staining for the lectin Wisteria Floribunda agglutinin. RESULTS: Hydrocephalic lamb brains demonstrated deep white matter damage with loss of projecting axonal tracts in regions physically distorted by hydrocephalus, similar to that seen in hydrocephalic humans. There was no evidence of abnormal neocortical neuronal migration; however, there was evidence for delayed maturation of the neocortical gray matter, possibly from increased intracerebral pressure and subsequent ischemia. Control lamb brains demonstrated none of the above findings. CONCLUSION: This histological approach can be used to further define the mechanism of brain damage associated with hydrocephalus and interpret the efficacy of ventriculoamniotic shunting on fetal lamb brain neuroanatomy.


Assuntos
Encéfalo/patologia , Hidrocefalia/congênito , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Feminino , Hidrocefalia/patologia , Gravidez , Ovinos
14.
Exp Anim ; 69(1): 26-33, 2020 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-31341137

RESUMO

Spontaneous hhy mice show hydrocephalus and subcortical heterotopia, and a mutation in the Ccdc85c gene has been identified. To contribute to the comparison of the role of Ccdc85c in different species, we established a Ccdc85c KO rat and investigated its pathological phenotypes. Ccdc85c KO rats were produced by genomic engineering using transcription activator-like effector nuclease (TALEN). The KO rats had an approximately 350-bp deletion in Ccdc85c and lacked CCDC85C protein expression. The KO rats showed non-obstructive hydrocephalus, subcortical heterotopia, and intracranial hemorrhage. The KO rats had many pathological characteristics similar to those in hhy mice. These results indicate that CCDC85C plays an important role in cerebral development in rats, and the function of CCDC85C in the cerebrum are similar in rats and mice.


Assuntos
Hidrocefalia/patologia , Proteínas do Tecido Nervoso/genética , Animais , Modelos Animais de Doenças , Hidrocefalia/genética , Mutação , Proteínas do Tecido Nervoso/metabolismo , Fenótipo , Ratos
15.
J Clin Neurosci ; 72: 466-468, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31874812

RESUMO

MRI signal changes in the corpus callosum can be seen in 8.3% of patients following shunt insertion for obstructive hydrocephalus. Several causes have been hypothesised, including mechanical compression, decompression associated oedema and ischaemia, and overshunting. We present a case of a patient with a pineal tumour of intermediate differentiation (WHO grade III), which had caused long-term obstructive hydrocephalus due to compression of the tectal plate and cerebral aqueduct. Following insertion of a shunt, prominent changes in the corpus callosum became evident on CT and MRI characterised by oedema and swelling, particularly affecting the dorsal surface of the corpus callosum. This pattern of signal change, although dramatic, should not be mistaken for other pathologies.


Assuntos
Derivações do Líquido Cefalorraquidiano , Corpo Caloso/patologia , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Imagem por Ressonância Magnética , Adulto , Aqueduto do Mesencéfalo , Corpo Caloso/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Masculino , Procedimentos Neurocirúrgicos
16.
Autops. Case Rep ; 9(4): e2019124, Oct.-Dec. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1024178

RESUMO

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum.


Assuntos
Humanos , Feminino , Gravidez , Defeitos Congênitos da Glicosilação/patologia , Síndrome de Walker-Warburg/patologia , Hidrocefalia/patologia , Autopsia , Evolução Fatal
17.
Neurology ; 93(24): e2237-e2246, 2019 12 10.
Artigo em Inglês | MEDLINE | ID: mdl-31719134

RESUMO

OBJECTIVE: To determine the frequency of high-convexity tight sulci (HCTS) in a population-based sample and whether the presence of HCTS and related features influenced participants' cognitive status and classification within the new Alzheimer-biomarker framework. METHODS: We analyzed 684 participants ≥50 years of age who were enrolled in the prospective population-based Mayo Clinic Study of Aging and underwent structural MRI, amyloid PET imaging, and tau PET imaging. A fully automated machine-learning algorithm that had been developed previously in house was used to detect neuroimaging features of HCTS. On the basis of PET and MRI measures, participants were classified as having normal (A-) or abnormal (A+) amyloid, normal (T-) or abnormal (T+) tau, and normal (N-) or abnormal (N+) neurodegeneration. The neuropsychological battery assessed domain-specific and global cognitive scores. Gait speed also was assessed. Analyses were adjusted for age and sex. RESULTS: Of 684 participants, 45 (6.6%) were classified with HCTS according to the automated algorithm. Patients with HCTS were older than patients without HCTS (mean [SD] 78.0 [8.3] vs 71.9 [10.8] years; p < 0.001). More were cognitively impaired after age and sex adjustment (27% vs 9%; p = 0.005). Amyloid PET status was similar with and without HCTS, but tau PET standard uptake value ratio (SUVR) was lower for those with HCTS after age and sex adjustment (p < 0.001). Despite a lower tau SUVR, patients with HCTS had lower Alzheimer disease (AD) signature cortical thickness. With the amyloid-tau-neurodegeneration framework, HCTS was overrepresented in the T-(N)+ group, regardless of amyloid status. CONCLUSION: The HCTS pattern represents a definable subgroup of non-AD pathophysiology (i.e., T-[N]+) that is associated with cognitive impairment. HCTS may confound clinical and biomarker interpretation in AD clinical trials.


Assuntos
Doença de Alzheimer/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Hidrocefalia/diagnóstico por imagem , Neuroimagem/métodos , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/complicações , Doença de Alzheimer/patologia , Cognição/fisiologia , Feminino , Humanos , Hidrocefalia/complicações , Hidrocefalia/patologia , Interpretação de Imagem Assistida por Computador/métodos , Aprendizado de Máquina , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons/métodos , Espaço Subaracnóideo/patologia
18.
PLoS One ; 14(11): e0224013, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31697715

RESUMO

BACKGROUND: The prognostic factors and outcome of aneurysms appear to be dependent on its locations. Therefore, we compared left- and right- sided aneurysms in patients with aneurysmal subarachnoid hemorrhage (SAH) in terms of differences in outcome and prognostic factors. METHODS: Patients with SAH were entered into a prospectively collected database. A total of 509 patients with aneurysmal subarachnoid hemorrhage were retrospectively selected and stratified in two groups depending on side of ruptured aneurysm (right n = 284 vs. left n = 225). Midline aneurysms of the basilar and anterior communicating arteries were excluded from the analysis. Outcomes were assessed using the modified Rankin Scale (mRS; favorable (mRS 0-2) vs. unfavorable (mRS 3-6)) six months after SAH. RESULTS: We did not identify any differences in outcome depending on left- and right-sided ruptured aneurysms. In both groups, the significant negative predictive factors included clinical admission status (WFNS IV+V), Fisher 3- bleeding pattern in CT, the occurrence of delayed cerebral ischemia (DCI), early hydrocephalus and later shunt-dependence. The side of the ruptured aneurysm does not seem to influence patients´ outcome. Interestingly, the aneurysm side predicts the side of infarction, with a significant influence on patients´ outcome in case of left-sided infarctions. In addition, the in multivariate analysis side of aneurysm was an independent predictor for the side of cerebral infarctions. CONCLUSION: The side of the ruptured aneurysms (right or left) did not influence patients' outcome. However, the aneurysm-side predicts the side of delayed infarctions and outcome appear to be worse in patients with left-sided infarctions.


Assuntos
Aneurisma Roto/patologia , Infarto/patologia , Hemorragia Subaracnóidea/patologia , Isquemia Encefálica/patologia , Feminino , Humanos , Hidrocefalia/patologia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Resultado do Tratamento
19.
Am J Hum Genet ; 105(5): 1030-1039, 2019 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-31630787

RESUMO

Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body movement. Furthermore, it has been shown that CSF flow within and across brain ventricles depends on cilia motility of the ependymal cells lining the brain ventricles, which play a crucial role to maintain patency of the narrow sites of CSF passage during brain formation in mice. Using whole-exome and whole-genome sequencing, we identified an autosomal-dominant cause of a distinct motile ciliopathy related to defective ciliogenesis of the ependymal cilia in six individuals. Heterozygous de novo mutations in FOXJ1, which encodes a well-known member of the forkhead transcription factors important for ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry. Mutant respiratory epithelial cells are unable to generate a fluid flow and exhibit a reduced number of cilia per cell, as documented by high-speed video microscopy (HVMA), transmission electron microscopy (TEM), and immunofluorescence analysis (IF). TEM and IF demonstrate mislocalized basal bodies. In line with this finding, the focal adhesion protein PTK2 displays aberrant localization in the cytoplasm of the mutant respiratory epithelial cells.


Assuntos
Ventrículos Cerebrais/patologia , Ciliopatias/genética , Fatores de Transcrição Forkhead/genética , Hidrocefalia/genética , Mutação/genética , Corpos Basais/patologia , Cílios/genética , Cílios/patologia , Ciliopatias/patologia , Epêndima/patologia , Células Epiteliais/patologia , Humanos , Hidrocefalia/patologia
20.
World Neurosurg ; 132: 208-210, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31505278

RESUMO

A 76-year-old man presented with progressive dementia, gait disturbance, and urinary incontinence for 1 year. Computed tomography scan revealed nonobstructive hydrocephalus, but abnormal papillary structures at the ventricular wall were noted. Before cerebrospinal fluid (CSF) diversion surgery for hydrocephalus, we performed magnetic resonance angiography and magnetic resonance venography, which revealed multiple engorged vessels over the ventricular wall and bilateral hemispheres. Digital subtraction angiography revealed 2 dural arteriovenous fistulas (DAVFs) at the left transverse-sigmoid sinus and superior sagittal sinus. Signs of angioarchitecture characteristic of cerebral venous hypertension (CVH) were noted, including cortical vein regurgitation and severe pseudophlebitic pattern. DAVFs with CVH might be a factor contributing to acquired hydrocephalus. DAVFs should be considered when patients with hydrocephalus exhibit abnormal papillary structures at the ventricular wall. Performing CSF diversion surgery for hydrocephalus before downgrading or curing such aggressive DAVFs may lead to major complications.


Assuntos
Malformações Vasculares do Sistema Nervoso Central/complicações , Ventrículos Cerebrais/patologia , Hidrocefalia/etiologia , Idoso , Angiografia Digital , Malformações Vasculares do Sistema Nervoso Central/patologia , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Ventrículos Cerebrais/cirurgia , Humanos , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Hipertensão/etiologia , Imagem por Ressonância Magnética , Masculino , Procedimentos Neurocirúrgicos/métodos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
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