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1.
BMC Musculoskelet Disord ; 23(1): 757, 2022 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-35933372

RESUMO

BACKGROUND: High bone mass (HBM, BMD Z-score ≥ + 3.2) and cam morphology (bulging of lateral femoral head) are associated with greater odds of prevalent radiographic hip osteoarthritis (rHOA). As cam morphology is itself a manifestation of increased bone deposition around the femoral head, it is conceivable that cam morphology may mediate the relationship between HBM and rHOA. We therefore aimed to determine if individuals with HBM have increased odds of prevalent cam morphology. In addition, we investigated whether the relationship between cam and prevalent and incident osteoarthritis was preserved in a HBM population. METHODS: In the HBM study, a UK based cohort of adults with unexplained HBM and their relatives and spouses (controls), we determined the presence of cam morphology using semi-automatic methods of alpha angle derivation from pelvic radiographs. Associations between HBM status and presence of cam morphology, and between cam morphology and presence of rHOA (or its subphenotypes: osteophytes, joint space narrowing, cysts, and subchondral sclerosis) were determined using multivariable logistic regression, adjusting for age, sex, height, weight, and adolescent physical activity levels. The association between cam at baseline and incidence of rHOA after an average of 8 years was determined. Generalised estimating equations accounted for individual-level clustering. RESULTS: The study included 352 individuals, of whom 235 (66.7%) were female and 234 (66.5%) had HBM. Included individuals contributed 694 hips, of which 143 had a cam deformity (20.6%). There was no evidence of an association between HBM and cam morphology (OR = 0.97 [95% CI: 0.63-1.51], p = 0.90) but a strong relationship was observed between cam morphology and rHOA (OR = 3.96 [2.63-5.98], p = 5.46 × 10-11) and rHOA subphenotypes joint space narrowing (OR = 3.70 [2.48-5.54], p = 1.76 × 10-10), subchondral sclerosis (OR = 3.28 [1.60-6.60], p = 9.57 × 10-4) and osteophytes (OR = 3.01 [1.87-4.87], p = 6.37 × 10-6). Cam morphology was not associated with incident osteoarthritis (OR = 0.76 [0.16-3.49], p = 0.72). CONCLUSIONS: The relationship between cam morphology and rHOA seen in other studies is preserved in a HBM population. This study suggests that the risk of OA conferred by high BMD and by cam morphology are mediated via distinct pathways.


Assuntos
Osteoartrite do Quadril , Osteófito , Adolescente , Adulto , Estudos de Coortes , Feminino , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/patologia , Humanos , Masculino , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Quadril/epidemiologia , Osteoartrite do Quadril/patologia , Osteófito/diagnóstico por imagem , Osteófito/epidemiologia , Osteófito/patologia , Radiografia , Esclerose/patologia
2.
Acta Myol ; 41(2): 95-98, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35832501

RESUMO

Mutations in the genes encoding collagen VI cause Bethlem myopathy (MIM 158810), Ullrich congenital muscular dystrophy (MIM 254090), and myosclerosis myopathy (MIM #255600). BM is a dominantly inherited disorder, characterised by proximal muscle weakness and joint contractures mainly involving the elbows, ankles, and fingers, which usually follows a relatively mild course. By contrast, UCMD is a severe muscular dystrophy characterized by early onset, rapidly progressive muscle wasting and weakness, proximal joint contractures and distal joint hyperlaxity. Rapid progression usually leads to early death due to respiratory failure. UCMD is usually inherited as an autosomal recessive trait though dominant de novo heterozygous variants have recently been reported. We describe a further patient with UCMD classical presentation who showed, at the NGS analysis, the de novo variant c.6210+1G > A in the intron 16 of the gene COL6A3, known in the literature as pathogenic (VCV0000949S6.5).


Assuntos
Contratura , Distrofias Musculares , Miopatias Congênitas Estruturais , Artrogripose , Colágeno Tipo VI/genética , Contratura/genética , Humanos , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Mutação , Esclerose
3.
Mymensingh Med J ; 31(3): 767-772, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35780362

RESUMO

Aortic valve sclerosis (AVS) represents a degenerative process that progresses with advancing age. The study was intended to find out the association between aortic valve sclerosis and the severity of CAD in patient's age ≤65 years with acute coronary syndrome. This cross-sectional analytical study was carried out in the department of cardiology, National Institute of Cardiovascular Diseases (NICVD), Dhaka, Bangladesh during a period of October 2017 to September 2018. A total of 140 Acute coronary syndrome (ACS) patients undergoing coronary angiogram during index hospitalization were included in the study. Study patients were divided into two groups on the basis of echocardiographic presence or absence of Aortic valve sclerosis (AVS), with 70 patients in each group. Group I was patients with aortic valve sclerosis and Group II was patients without aortic valve sclerosis. All patients underwent transthoracic echocardiography before they underwent coronary angiography on different days. Severity of CAD was determined by Gensini score and Vessel score. Association of traditional risk factors (smoking habit, hypertension, diabetes mellitus, dyslipidaemia and family history of CAD) with severity of CAD was investigated. Coronary angiography showed that AVS group had a higher positive rate of CAD (82.9% vs. 54.3%, p<0.001) and incidence rate of triple vessel CAD (40% vs. 14.3%, p<0.001) than non-AVS group. Gensini score had higher in AVS group than non AVS group (37.9±27.8 vs. 12.5±14.2; p<0.001). Multivariate analysis showed that AVS (p=0.01) and age (p=0.04) were independent predictors of the presence of significant coronary artery disease. The study concluded that echocardiographically detected AVS is an independent predictor of coronary artery disease severity. There is positive correlation between severity of AVS and severity of CAD in patient's age ≤65 years with ACS.


Assuntos
Síndrome Coronariana Aguda , Doença da Artéria Coronariana , Síndrome Coronariana Aguda/diagnóstico por imagem , Síndrome Coronariana Aguda/epidemiologia , Síndrome Coronariana Aguda/etiologia , Valva Aórtica/diagnóstico por imagem , Bangladesh/epidemiologia , Angiografia Coronária , Doença da Artéria Coronariana/complicações , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/epidemiologia , Estudos Transversais , Humanos , Esclerose
4.
Indian J Ophthalmol ; 70(7): 2486-2489, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35791141

RESUMO

Purpose: To describe the clinical profile and treatment outcomes of infants with retinopathy of prematurity (ROP) presenting with isolated exudative retinal detachment (ERD). Methods: Retrospective interventional case series. Preterm infants diagnosed with ROP with ERD at presentation were included. All demographic details, clinical findings, and treatment given were documented. The anatomical outcome was categorized as good, fair, and poor. Refractive outcome was classified into mild, moderate, and severe according to spherical equivalent at the last visit. Results: Fifteen eyes (8 patients) were included. Mean gestational age was 31.3 weeks, and birth weight was 1462.6 g. All eyes presented with aggressive ROP. Patches of retinal edema in avascular retina were seen in all eyes. A total of 86.6% of eyes had vascular sclerosis while 86.6% of eyes had subretinal exudates. The anatomical outcome was good in all eyes. In addition, 40% of eyes had a mild refractive error. Conclusion: Exudative retinal detachment in ROP is rare. The use of unregulated oxygen can be a contributory factor. Vascular sclerosis is consistent with hyperoxia-induced retinopathy models. Retinal edema and subretinal exudates indicate disrupted inner and outer blood-retinal barrier. Treatment outcomes are good when diagnosed and treated in time.


Assuntos
Papiledema , Descolamento Retiniano , Retinopatia da Prematuridade , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Fotocoagulação a Laser , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/terapia , Retinopatia da Prematuridade/complicações , Retinopatia da Prematuridade/diagnóstico , Retinopatia da Prematuridade/cirurgia , Estudos Retrospectivos , Esclerose
5.
J Assoc Physicians India ; 70(7): 11-12, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35833398

RESUMO

BACKGROUND AND AIMS: Drug-resistant epilepsy (DRE) is a common and important neurological problem to identify with scope for curative surgical treatment if underlying cause is delineated. There are very few prospective structured studies in our population. This study aimed to look at the neuroimaging profile of DRE presenting in a tertiary care center in South India. MATERIALS AND METHODS: All patients diagnosed clinically as DRE as per International League Against Epilepsy (ILAE) criteria and who underwent magnetic resonance imaging (MRI) over a period of 24 months were included in the study. Their clinical and MRI features were documented and analyzed. RESULTS: A total of 150 patients diagnosed with DRE were included in the study. Clinically, 96 of them presented with generalized tonic-clonic seizures (GTCS), 36 with complex partial seizures (CPS), 14 with simple focal seizures, and two each with atonic seizures and focal seizures with secondary generalization. Magnetic resonance imaging (done in 1.5 T) was normal in 32%. In those with abnormal MRI, mesial temporal sclerosis (MTS) was the commonest pathology seen in 41.3%, followed by cortical malformations (6.7%), tumors (2.6%), vascular malformations (2.7%), and other nonspecific lesions (12%). CONCLUSION: The clinical and neuroimaging profile of DRE showed that DRE is more common in younger age (of less than 30 years); presents mainly with GTCS or CPS; mesial temporal sclerosis is the commonest underlying pathology which was bilateral in 8.6%; temporal lobe lesions predominate (49.3% of all DRE); and cortical malformation, low-grade tumors, and vascular lesions are other important causes.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia do Lobo Temporal , Epilepsia , Adulto , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Eletroencefalografia , Epilepsia/complicações , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/cirurgia , Humanos , Imageamento por Ressonância Magnética , Neuroimagem , Estudos Prospectivos , Esclerose , Convulsões/complicações , Centros de Atenção Terciária
6.
BMC Neurol ; 22(1): 243, 2022 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-35788208

RESUMO

BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and distal limb muscle involvement. Recent research showed that GGC repeat expansions in the NOTCH2NLC gene were observed in a proportion of OPDM patients, and these patients were designated as having OPDM type 3 (OPDM3). Heterogeneous neuromuscular manifestations have been described previously in studies of OPDM3; however, kidney involvement in this disease has rarely been reported. CASE PRESENTATION: Here, we report the case of a 22-year-old Chinese patient with typical manifestations of OPDM complicated with focal segmental glomerular sclerosis (FSGS). This patient with sporadic FSGS exhibited distal motor neuropathy and rimmed vacuolar myopathy in clinical and pathological examinations. An expansion of 122 CGG repeats located in the 5' untranslated region (UTR) of the NOTCH2NLC gene was identified as the causative mutation in this patient. The clinical and histopathological findings fully met the criteria for the diagnosis of OPDM3. In addition, intranuclear inclusions were detected in the renal tubule epithelial cells of this patient, indicating that the kidney may also be impaired in NOTCH2NLC-related GGC repeat expansion disorders (NREDs). CONCLUSIONS: Our case report demonstrated the clinicopathological cooccurrence of sporadic FSGS and OPDM3 in a patient, which highlighted that the kidney may show inclusion depositions in OPDM3, thus expanding the clinical spectrum of NREDs.


Assuntos
Glomerulosclerose Segmentar e Focal , Distrofias Musculares , Adulto , Humanos , Distrofias Musculares/patologia , Linhagem , Esclerose/complicações , Adulto Jovem
7.
Int J Mol Sci ; 23(15)2022 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-35897768

RESUMO

The extracellular matrix (ECM) is an important regulator of excitability and synaptic plasticity, especially in its highly condensed form, the perineuronal nets (PNN). In patients with drug-resistant mesial temporal lobe epilepsy (MTLE), hippocampal sclerosis type 1 (HS1) is the most common histopathological finding. This study aimed to evaluate the ECM profile of HS1 in surgically treated drug-resistant patients with MTLE in correlation to clinical findings. Hippocampal sections were immunohistochemically stained for aggrecan, neurocan, versican, chondroitin-sulfate (CS56), fibronectin, Wisteria floribunda agglutinin (WFA), a nuclear neuronal marker (NeuN), parvalbumin (PV), and glial-fibrillary-acidic-protein (GFAP). In HS1, besides the reduced number of neurons and astrogliosis, we found a significantly changed expression pattern of versican, neurocan, aggrecan, WFA-specific glycosylation, and a reduced number of PNNs. Patients with a lower number of epileptic episodes had a less intense diffuse WFA staining in Cornu Ammonis (CA) fields. Our findings suggest that PNN reduction, changed ECM protein, and glycosylation expression pattern in HS1 might be involved in the pathogenesis and persistence of drug-resistant MTLE by contributing to the increase of CA pyramidal neurons' excitability. This research corroborates the validity of ECM molecules and their modulators as a potential target for the development of new therapeutic approaches to drug-resistant epilepsy.


Assuntos
Gliose , Neurocam , Agrecanas/metabolismo , Matriz Extracelular/metabolismo , Gliose/metabolismo , Hipocampo/metabolismo , Humanos , Neurocam/metabolismo , Esclerose/metabolismo , Versicanas/metabolismo
8.
Ideggyogy Sz ; 75(5-06): 163-169, 2022 05 30.
Artigo em Húngaro | MEDLINE | ID: mdl-35819344

RESUMO

Research results in recent years have demonstrated that B-lymphocytes play a crucial role in the pathogenesis of multiple sclerosis (MS). The increased understanding of the disease process has resulted in the development of B cell-targeting antibodies as potential drugs for both relapsing and progressive forms of MS. Therefore, B-cell depletion therapies are becoming more prominent and determining in reducing disease progression. The first B-cell depleting anti-CD20 monoclonal antibody was rituximab, which has also been studied in MS and, following favourable results, new drugs have been developed with a similar point of attack. In 2017, the FDA and in 2018, the EMA approved ocrelizumab, another anti-CD20 monoclonal antibody, for the treatment of relapsing-remitting (RRMS) and primary progressive multiple sclerosis (PPMS). This was a particularly significant advance in the treatment of PPMS, as it was the first medication with a proven effect of reducing progression in PPMS. Ofatumumab, a fully human anti-CD20 monoclonal antibody, has emerged recently as a new player in B-cell depletion therapy. The drug has also recently been approved by the EMA in March 2021 for use in relapsing forms of MS. In this review, we detail the mechanism of action and efficacy of anti-CD20 therapies currently used in MS.


Assuntos
Fatores Imunológicos , Esclerose Múltipla , Anticorpos Monoclonais/farmacologia , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Humanizados , Linfócitos B , Humanos , Fatores Imunológicos/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Esclerose
10.
Epilepsia ; 63(8): 2081-2095, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35656586

RESUMO

OBJECTIVE: Recent work has shown that people with common epilepsies have characteristic patterns of cortical thinning, and that these changes may be progressive over time. Leveraging a large multicenter cross-sectional cohort, we investigated whether regional morphometric changes occur in a sequential manner, and whether these changes in people with mesial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS) correlate with clinical features. METHODS: We extracted regional measures of cortical thickness, surface area, and subcortical brain volumes from T1-weighted (T1W) magnetic resonance imaging (MRI) scans collected by the ENIGMA-Epilepsy consortium, comprising 804 people with MTLE-HS and 1625 healthy controls from 25 centers. Features with a moderate case-control effect size (Cohen d ≥ .5) were used to train an event-based model (EBM), which estimates a sequence of disease-specific biomarker changes from cross-sectional data and assigns a biomarker-based fine-grained disease stage to individual patients. We tested for associations between EBM disease stage and duration of epilepsy, age at onset, and antiseizure medicine (ASM) resistance. RESULTS: In MTLE-HS, decrease in ipsilateral hippocampal volume along with increased asymmetry in hippocampal volume was followed by reduced thickness in neocortical regions, reduction in ipsilateral thalamus volume, and finally, increase in ipsilateral lateral ventricle volume. EBM stage was correlated with duration of illness (Spearman ρ = .293, p = 7.03 × 10-16 ), age at onset (ρ = -.18, p = 9.82 × 10-7 ), and ASM resistance (area under the curve = .59, p = .043, Mann-Whitney U test). However, associations were driven by cases assigned to EBM Stage 0, which represents MTLE-HS with mild or nondetectable abnormality on T1W MRI. SIGNIFICANCE: From cross-sectional MRI, we reconstructed a disease progression model that highlights a sequence of MRI changes that aligns with previous longitudinal studies. This model could be used to stage MTLE-HS subjects in other cohorts and help establish connections between imaging-based progression staging and clinical features.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Atrofia/patologia , Biomarcadores , Estudos Transversais , Epilepsia/complicações , Epilepsia do Lobo Temporal/patologia , Hipocampo/diagnóstico por imagem , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Esclerose/complicações
11.
Mult Scler Relat Disord ; 64: 103939, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35716475

RESUMO

Assessing the relative importance among different multiple sclerosis (MS) symptoms could guide the efficient allocation of health care resources. We aimed to evaluate the trends in web search behavior worldwide regarding MS symptoms, by querying Google Trends using search terms related to MS symptoms. The popularity of those symptoms was evaluated worldwide from 16/April/2017 through 3/April/2022. A comparison of all search terms revealed that "multiple sclerosis" pain displayed by far the highest relative search volume. Prompt screening and evidence-based interventions are necessary to evaluate pain and optimize quality of life in MS patients.


Assuntos
Esclerose Múltipla , Qualidade de Vida , Humanos , Internet , Esclerose Múltipla/complicações , Esclerose Múltipla/epidemiologia , Dor/epidemiologia , Dor/etiologia , Esclerose
12.
Zhonghua Zhong Liu Za Zhi ; 44(6): 581-586, 2022 Jun 23.
Artigo em Chinês | MEDLINE | ID: mdl-35754234

RESUMO

Objective: To investigate the pathological characteristics and clinical prognosis of nodular sclerosis grade 2 of classic Hodgkin's lymphoma (cHL-NS2) in our cancer center. Methods: A retrospective collection of 23 cases of cHL-NS2 admitted in Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from July 2008 to April 2019 was performed. Fifty-five cases of nodular sclerosis grade 1 of classical Hodgkin's lymphoma (cHL-NS1) during the same period were selected as control group. Survival curves were plotted using the Kaplan-Meier method, and Cox regression model was used to analyze the influencing factors for survival. Results: The median age of 23 cases of cHL-NS2 was 30 years old. Five cases had extra nodal invasion, and 19 cases were Ⅰ-Ⅱ stage based on Ann Arbor system. The pathological morphology of cHL-NS2 showed that the lymph node structure was completely destroyed and was divided into nodules by thick collagen. The tumor cells in the nodules were abundant and proliferated in sheets. The boundaries between the tumor cells were not clear. The incidence of tumor necrosis in cHL-NS2 was 43.5% (10/23), which was significantly higher than 18.2% (10/55) in cHL-NS1 (P=0.040). The 3-year progression-free survival (PFS) rate of patients in the cHL-NS2 group was 58.1%, which was significantly lower than 89.7% in the cHL-NS1 group (P=0.002). In all of 78 cases, the 3-year PFS rate of patients who did not obtain complete response (CR) was 67.1%, which was significantly lower than 92.2% in patients who achieved CR (P=0.030). Multivariate Cox regression analysis demonstrated that both cHL-NS2 and failure to obtain CR by first-line treatment were independent indicators for short PFS time (P<0.05). Conclusions: In cHL-NS2, the morphology of tumor cells are diverse, and tumor necrosis can be easily found. Under the current first-line treatments of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) or bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPP), cHL-NS2 is an independent indicator for worse PFS.


Assuntos
Doença de Hodgkin , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bleomicina/uso terapêutico , Ciclofosfamida/uso terapêutico , Dacarbazina/uso terapêutico , Doxorrubicina/uso terapêutico , Etoposídeo/uso terapêutico , Doença de Hodgkin/tratamento farmacológico , Humanos , Necrose/tratamento farmacológico , Prednisona/uso terapêutico , Prognóstico , Estudos Retrospectivos , Esclerose/tratamento farmacológico , Vimblastina/uso terapêutico , Vincristina/uso terapêutico
13.
Epilepsy Res ; 184: 106965, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35724601

RESUMO

Pathology in the dentate gyrus, including sclerosis, is a hallmark of temporal lobe epilepsy, and reduced inhibition to dentate granule cells may contribute to epileptogenesis. The perisomatic-targeting axonal boutons of parvalbumin-expressing interneurons decrease in proportion with granule cells in temporal lobe epilepsy. In contrast, dendrite-targeting axonal boutons of somatostatin-expressing interneurons sprout exuberantly in temporal lobe epilepsy. A third major class of GABAergic interneurons expresses cannabinoid receptor type 1 (CB1) on their terminal boutons, but there is conflicting evidence as to whether these boutons are increased or decreased in temporal lobe epilepsy. Naturally occurring temporal lobe epilepsy in California sea lions, with unilateral or bilateral sclerosis, offers the benefit of neuroanatomy and neuropathology akin to humans, but with the advantage that the entirety of both hippocampi from control and epileptic brains can be studied. Stereological quantification in the dentate gyrus revealed that sclerotic hippocampi from epileptic sea lions had fewer CB1-labeled boutons than controls. However, the reduction in the number of granule cells was greater, resulting in increased CB1-labeled boutons per granule cell in sclerotic hippocampi at temporal levels. This suggests that although CB1-expressing boutons are decreased in sclerotic dentate gyri, surviving cells have enhanced innervation from these boutons in epileptic sea lions.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Leões-Marinhos , Animais , Giro Denteado/patologia , Epilepsia/patologia , Epilepsia do Lobo Temporal/patologia , Humanos , Interneurônios/fisiologia , Receptores de Canabinoides , Esclerose/patologia
14.
J Vet Intern Med ; 36(4): 1303-1311, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35656875

RESUMO

BACKGROUND: Metaphyseal sclerosis secondary to canine distemper virus has been described histopathologically, but its radiographic appearance has not been described. OBJECTIVES: Describe the radiographic appearance of metaphyseal sclerosis secondary to canine distemper virus in juvenile dogs as distinct from metaphyseal osteopathy (formerly called hypertrophic osteodystrophy). ANIMALS: Four dogs (2 intact females and 2 intact males) between 2.5 and 4 months of age presented to 2 different veterinary teaching hospitals. METHODS: Retrospective case series in which definitive diagnosis of canine distemper virus based on antemortem positive reverse transcription-polymerase chain reaction (RT-PCR) result or necropsy was required. RESULTS: All 4 dogs were presented for evaluation of neurologic abnormalities, respiratory signs, and lethargy; 2 dogs had gastrointestinal signs and ocular abnormalities. Radiographs on all patients featured multifocal, symmetric, metaphyseal sclerosis, with no evidence of lysis or changes to the adjacent growth plate. The metaphyseal sclerosis was most apparent at the proximal humeral diaphyses and other included long bones. Diagnosis of distemper was confirmed by necropsy (2 of 4 dogs) or positive RT-PCR results (2 of 4 dogs). Three dogs were euthanized because of progressive illness, and 1 dog was lost to follow-up. CONCLUSION AND CLINICAL IMPORTANCE: Identification of metaphyseal sclerosis on radiographs during diagnostic evaluation of young dogs should lead to a clinical suspicion of canine distemper virus infection. Sclerosis identified secondary to canine distemper virus is distinct from the necrosis and inflammation of metaphyseal osteopathy.


Assuntos
Vírus da Cinomose Canina , Cinomose , Doenças do Cão , Animais , Osso e Ossos , Cinomose/complicações , Cinomose/diagnóstico por imagem , Doenças do Cão/diagnóstico por imagem , Cães , Feminino , Masculino , Estudos Retrospectivos , Esclerose/veterinária
15.
BMJ Case Rep ; 15(6)2022 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-35732376

RESUMO

A man in his 60s with stage 3 squamous cell carcinoma of the left lung status postchemotherapy and radiation therapy presented with mixed septic and obstructive shock with multiorgan dysfunction. Initial electrocardiogram showed sinus tachycardia and diffuse concaved ST elevation. Transthoracic echocardiogram revealed pericardial effusion with tamponade physiology. CT thorax was notable for dense left lung consolidation with pleural effusion. Emergent pericardiocentesis and percutaneous balloon pericardiotomy were performed which successfully drained 500 mL of purulent pericardial fluid. A left chest tube was placed and revealed a large volume of empyema. Both pericardial and pleural fluid cultures yielded similar strains of Streptococcus anginosus The patient was initially treated with empiric broad-spectrum intravenous antibiotics which were eventually de-escalated to intravenous ceftriaxone based on microbiology culture and sensitivity. Unfortunately, the patient developed pulseless electrical activity arrest on day 10 of intensive care unit stay and expired despite cardiopulmonary resuscitation.


Assuntos
Tamponamento Cardíaco , Derrame Pericárdico , Pericardite , Pneumonia , Tamponamento Cardíaco/etiologia , Tamponamento Cardíaco/terapia , Humanos , Masculino , Mediastinite , Derrame Pericárdico/etiologia , Pericardiocentese/efeitos adversos , Pericardite/tratamento farmacológico , Pericardite/terapia , Pneumonia/complicações , Esclerose , Streptococcus anginosus
16.
Seizure ; 100: 1-7, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35687962

RESUMO

OBJECTIVE: We assessed the diagnostic utility of the occurrence rate of high-frequency oscillations and modulation index (MI) from intraoperative electrocorticography (ioECoG) in determining the extent of epileptogenicity in mesial temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS). METHODS: We enrolled 17 patients who underwent selective amygdalohippocampectomy (SelAH) for TLE due to HS. We analyzed the occurrence rate of ripples (80-200 Hz) and fast ripples (200-300 Hz); and MI between ripples and 3-4 Hz (MIRipples/3-4 Hz) and fast ripples and 3-4 Hz (MIFRs/3-4 Hz) from the amygdala, hippocampus, and lateral temporal lobe (LTL) pre-SelAH and the LTL post-SelAH, and subsequently categorized the patients into good and poor seizure outcome groups. We compared the occurrence rates and MIs over each region of interest between both groups. Receiver operating characteristic analysis was used to identify the most optimal indicator to predict poor surgical outcomes. RESULTS: In the poor seizure outcome group, an increase in the occurrence rate of ripples was seen in the hippocampus and LTL pre-SelAH and the LTL post-SelAH. The MIRipples/3-4 Hz from the LTL pre-SelAH was the most indicative factor of poor outcome. CONCLUSIONS: High occurrence rate of ripples and MIRipples/3-4 Hz from the LTL showed wide epileptogenicity in TLE patients with poor seizure outcomes after SelAH. Our data suggest that the analysis of the occurrence rate of HFOs and MIHFOs/3-4 Hz from ioECoG, especially from the LTL, can indicate the distribution of epileptogenicity in TLE with HS.


Assuntos
Epilepsia do Lobo Temporal , Doenças Neurodegenerativas , Eletrocorticografia , Eletroencefalografia , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/cirurgia , Hipocampo/cirurgia , Humanos , Esclerose , Convulsões
17.
Acta Neuropathol ; 144(1): 107-127, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35551471

RESUMO

Mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures is associated with common variation at rs7587026, located in the promoter region of SCN1A. We sought to explore possible underlying mechanisms. SCN1A expression was analysed in hippocampal biopsy specimens of individuals with mesial temporal lobe epilepsy with hippocampal sclerosis who underwent surgical treatment, and hippocampal neuronal cell loss was quantitatively assessed using immunohistochemistry. In healthy individuals, hippocampal volume was measured using MRI. Analyses were performed stratified by rs7587026 type. To study the functional consequences of increased SCN1A expression, we generated, using transposon-mediated bacterial artificial chromosome transgenesis, a zebrafish line expressing exogenous scn1a, and performed EEG analysis on larval optic tecta at 4 day post-fertilization. Finally, we used an in vitro promoter analysis to study whether the genetic motif containing rs7587026 influences promoter activity. Hippocampal SCN1A expression differed by rs7587026 genotype (Kruskal-Wallis test P = 0.004). Individuals homozygous for the minor allele showed significantly increased expression compared to those homozygous for the major allele (Dunn's test P = 0.003), and to heterozygotes (Dunn's test P = 0.035). No statistically significant differences in hippocampal neuronal cell loss were observed between the three genotypes. Among 597 healthy participants, individuals homozygous for the minor allele at rs7587026 displayed significantly reduced mean hippocampal volume compared to major allele homozygotes (Cohen's D = - 0.28, P = 0.02), and to heterozygotes (Cohen's D = - 0.36, P = 0.009). Compared to wild type, scn1lab-overexpressing zebrafish larvae exhibited more frequent spontaneous seizures [one-way ANOVA F(4,54) = 6.95 (P < 0.001)]. The number of EEG discharges correlated with the level of scn1lab overexpression [one-way ANOVA F(4,15) = 10.75 (P < 0.001]. Finally, we showed that a 50 bp promoter motif containing rs7587026 exerts a strong regulatory role on SCN1A expression, though we could not directly link this to rs7587026 itself. Our results develop the mechanistic link between rs7587026 and mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures. Furthermore, we propose that quantitative precision may be important when increasing SCN1A expression in current strategies aiming to treat seizures in conditions involving SCN1A haploinsufficiency, such as Dravet syndrome.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Canal de Sódio Disparado por Voltagem NAV1.1/metabolismo , Convulsões Febris , Proteínas de Peixe-Zebra/metabolismo , Animais , Epilepsia/genética , Epilepsia do Lobo Temporal/genética , Genômica , Gliose/patologia , Hipocampo/patologia , Humanos , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Esclerose/patologia , Convulsões Febris/complicações , Convulsões Febris/genética , Peixe-Zebra
18.
JAMA Netw Open ; 5(5): e2211946, 2022 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-35552723

RESUMO

Importance: Little is known about the long-term outcomes of mild valvular lesions. Objective: To examine the associations of 3 major types of valvular lesions (aortic stenosis, trace or mild aortic regurgitation, and trace or mild mitral regurgitation) with risk of cardiovascular mortality, coronary heart disease (CHD), stroke, heart failure, and atrial fibrillation. Design, Setting, and Participants: This cohort study analyzed data from the ongoing Atherosclerosis Risk in Communities study and focused on Black participants in the Jackson, Mississippi, site who underwent echocardiography at visit 3 from 1993 to 1995. Data analysis was conducted between April 2021 and February 2022. Exposures: Three valvular lesions were analyzed: aortic sclerosis, aortic regurgitation (trace or mild), and mitral regurgitation (trace or mild). Main Outcomes and Measures: The outcomes were cardiovascular mortality, coronary heart disease, heart failure, stroke, and atrial fibrillation. Multivariable Cox proportional hazards regression models were used to examine the independent associations between the 3 valvular lesions and these outcomes. Results: A total of 2106 Black participants were included, with a mean (SD) age of 59.1 (5.6) years and 1354 women (64.3%). The baseline prevalence was 7.7% for aortic sclerosis, 15.1% for aortic regurgitation (6.1% with trace, and 9.0% with mild), and 43.0% for mitral regurgitation (29.4% with trace, and 13.6% with mild). During a median (interquartile interval) follow-up of 22.5 (15.6-23.5) years, 890 participants developed at least 1 cardiovascular outcome. Each valvular lesion was significantly associated with at least 1 cardiovascular outcome: aortic sclerosis was associated with cardiovascular mortality (adjusted hazard ratio [HR], 1.54; 95% CI, 1.06-2.22), mild mitral regurgitation was associated with atrial fibrillation (HR, 1.47; 95% CI, 1.09-1.99), and trace or mild aortic regurgitation was associated with all outcomes (HRs ranging from 1.45 [95% CI, 1.17-1.81] to 1.75 [95% CI, 1.29-2.37]) except stroke. The total number of valvular lesions had graded associations with all cardiovascular outcomes except stroke: the HR of cardiovascular mortality was 1.77 (95% CI, 1.18-2.65) for those with 2 to 3 lesions and was 1.44 (95% CI, 1.05-1.96) for those with 1 lesion vs no lesions. Conclusions and Relevance: Results of this study indicate an association between valvular lesions, even at mild stage, and a long-term risk of cardiovascular events, suggesting the importance of recognizing and monitoring these valvular conditions.


Assuntos
Insuficiência da Valva Aórtica , Fibrilação Atrial , Insuficiência Cardíaca , Insuficiência da Valva Mitral , Acidente Vascular Cerebral , Adulto , Insuficiência da Valva Aórtica/complicações , Insuficiência da Valva Aórtica/epidemiologia , Fibrilação Atrial/complicações , Fibrilação Atrial/epidemiologia , Estudos de Coortes , Feminino , Insuficiência Cardíaca/epidemiologia , Humanos , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/complicações , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/epidemiologia , Esclerose/complicações , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia
19.
PLoS One ; 17(5): e0268010, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35560321

RESUMO

Cats are known to be affected by hippocampal sclerosis, potentially causing antiseizure drug(s) resistance. In order to lay the foundation for a standardized, systematic classification and diagnosis of this pathology in cats, this prospective study aimed at evaluating normal reference values of cellular densities and the cytoarchitecture of the feline hippocampus. Three transverse sections (head, body and tail) of each left hippocampus were obtained from 17 non-epileptic cats of different brachycephalic and mesocephalic breeds and age classes (range: 3-17 years). Histological (hematoxylin and eosin, Nissl) and immunohistochemical (NeuN, GFAP) staining was performed to investigate neuron and astroglial cell populations, as well as the layer thickness of the pyramidal cell layer and granule cell layer. Significant differences in neuronal density (in CA2-CA4 and the granule cell layer) and layer thickness (in CA1-CA3 and the granule cell layer) were evidenced throughout the longitudinal hippocampal axis (p<0.05); on the other hand, the astrocyte density did not differ. Moreover, reference ranges were defined for these parameters in the pyramidal cell layer and in the granule cell layer. The findings did not differ according to breed or age. In veterinary medicine these parameters have not been evaluated in cats so far. As surgical treatment may become a therapeutic option for cats with temporal lobe epilepsy, estimating normal values of the hippocampal cytoarchitecture will help in the standardized histopathological examination of resected hippocampal specimens to reach a diagnosis of hippocampal sclerosis.


Assuntos
Epilepsia do Lobo Temporal , Doenças Neurodegenerativas , Animais , Gatos , Epilepsia do Lobo Temporal/patologia , Gliose/patologia , Hipocampo/patologia , Doenças Neurodegenerativas/patologia , Neurônios/patologia , Estudos Prospectivos , Esclerose/patologia
20.
J Am Soc Nephrol ; 33(7): 1411-1426, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35581011

RESUMO

BACKGROUND: Heterogeneity in disease course and treatment response among patients with MCD/FSGS necessitates a granular evaluation of kidney tissue features. This study aimed to identify histologic and ultrastructural descriptors of structural changes most predictive of clinical outcomes in the Nephrotic Syndrome Study Network (NEPTUNE). METHODS: Forty-eight histologic (37 glomerular, 9 tubulointerstitial, 2 vascular) and 20 ultrastructural descriptors were quantified by applying the NEPTUNE Digital Pathology Scoring System to NEPTUNE kidney biopsies. Outcomes included time from biopsy to disease progression, first complete remission of proteinuria, and treatment response. Relative importance of pathology and clinical predictors was obtained from random forest models, and predictive discrimination was assessed. RESULTS: Among 224 participants (34% Black, 24% Hispanic), model performance was excellent, with predictive discrimination of 0.9 for disease progression, 0.85 for complete remission, and 0.81 for treatment response. The most predictive descriptors of outcomes included both conventional-e.g., global sclerosis or segmental sclerosis and interstitial fibrosis/tubular atrophy-and novel features, including adhesion, interstitial foam cells, deflation, periglomerular fibrosis, mononuclear white blood cells, endothelial cell abnormalities, microvillous transformation, and acute tubular injury. CONCLUSIONS: The most predictive descriptors of clinical outcomes among MCD/FSGS patients reflected structural changes in multiple renal compartments. Reporting these descriptors should be standardized to guide prognostication of proteinuric glomerular diseases.


Assuntos
Glomerulosclerose Segmentar e Focal , Nefropatias , Nefrose Lipoide , Síndrome Nefrótica , Biópsia , Progressão da Doença , Fibrose , Glomerulosclerose Segmentar e Focal/patologia , Humanos , Rim/patologia , Nefropatias/patologia , Nefrose Lipoide/patologia , Síndrome Nefrótica/patologia , Prognóstico , Esclerose
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