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1.
Radiol Case Rep ; 19(10): 4151-4157, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39101025

RESUMO

Intraventricular neurocytoma is a low incidence central nervous system tumor. It predominantly affects young adults with no apparent gender predilection. The main symptoms include headache, nausea and vomiting. These result from hydrocephalus due to the obstruction of cerebrospinal fluid flow. On diagnostic imaging, neurocytoma can be suspected by some features, such as peripheral cysts, lobulated contours and septa that bridge the ventricular wall, giving a "scalloped" appearance. There are other characteristics, but they are less specific for the diagnosis. The atypical variant of neurocytoma is even rarer and leads to a worst prognosis. Atypical neurocytomas develop higher proliferative potential identified by the Ki-67 biomarker and higher recurrence rate. There are few studies about the imaging characteristics of atypical neurocytomas. At this point, there are no reliable distinctive features to differentiate atypical neurocytomas, especially due to their low incidence. We present the case of a 20-year-old female patient with symptoms of intracraneal hypertension. CT and MRI of the brain revealed a mass occupying the body of the left lateral ventricle, adjacent to the foramen of Monro. The mass was primarily solid with discrete peripheral cyst and a few scalloped areas. It also showed signs of supratentorial obstructive hydrocephalus. The tumor was partially removed because of bleeding and compromise of vascular structures. Immunohistochemistry revealed positive synaptophysin, elevated Ki-67 (7%), increased number of blood vessels and moderate nuclear atypia. After surgery, the patient persisted with signs of intracranial hypertension, not improving with clinical management and requiring aggressive surgical procedures. While rare, atypical neurocytoma requires a better characterization, especially through imaging, to optimize immediate management and explore new therapeutic options.

2.
Kidney Med ; 6(8): 100855, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39105067

RESUMO

Rationale & Objective: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy (TMA) caused by complement dysregulation. Ravulizumab is a C5i approved for the treatment of aHUS. This analysis assessed long-term outcomes of ravulizumab in adults and pediatric patients with aHUS. Study Design: This analysis reports 2-year data from 2 phase 3, single-arm studies. Setting & Participants: One study included C5i-naïve adults (NCT02949128), and the other included 2 cohorts of pediatric patients (C5i-naïve and those who switched to ravulizumab from eculizumab [pediatric switch patients]; NCT03131219). Exposure: Patients received intravenous ravulizumab every 4-8 weeks, with the dose depending on body weight. Outcomes: The primary endpoint in the studies of C5i-naïve patients was complete TMA response, which consisted of platelet count normalization, lactate dehydrogenase normalization, and ≥25% improvement in serum creatinine concentrations from baseline, at 2 consecutive assessments ≥4 weeks apart. Analytical Approach: All analyses used descriptive statistics. No formal statistical comparisons were performed. Results: In total, 86 and 92 patients were included in efficacy and safety analyses, respectively. Complete TMA response rates over 2 years were 61% and 90% in C5i-naïve adults and pediatric patients, respectively. The median increase in estimated glomerular filtration rate from baseline was maintained over 2 years in C5i-naïve adults (35 mL/min/1.73 m2) and pediatric patients (82.5 mL/min/1.73 m2). Most adverse events and serious adverse events occurred during the first 26 weeks. No meningococcal infections were reported. Improvement in the Functional Assessment of Chronic Illness Therapy - Fatigue score achieved by 26 weeks was maintained over 2 years. Limitations: Limitations were the small sample of pediatric switch patients and limited availability of genetic data. Conclusions: Long-term treatment with ravulizumab is well tolerated and associated with improved hematologic and renal parameters and quality of life in adults and pediatric patients with aHUS.


This research tested a drug called ravulizumab for the treatment of atypical hemolytic uremic syndrome (aHUS). aHUS is a rare disease that causes clots in tiny blood vessels. This can damage the kidneys and other organs. We analyzed data from 2 clinical trials in which children and adults with aHUS received ravulizumab through a tube placed in a vein (intravenous line). They received ravulizumab every 4-8 weeks depending on their weight. We found that treating patients for 2 years with ravulizumab was associated with improved blood health, kidney function, and quality of life and was well tolerated. These results support ravulizumab as a long-term treatment for people with aHUS.

3.
J Med Virol ; 96(8): e29851, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39132689

RESUMO

Here, we performed single-cell RNA sequencing of S1 and receptor binding domain protein-specific B cells from convalescent COVID-19 patients with different clinical manifestations. This study aimed to evaluate the role and developmental pathway of atypical memory B cells (MBCs) in response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The results revealed a proinflammatory signature across B cell subsets associated with disease severity, as evidenced by the upregulation of genes such as GADD45B, MAP3K8, and NFKBIA in critical and severe individuals. Furthermore, the analysis of atypical MBCs suggested a developmental pathway similar to that of conventional MBCs through germinal centers, as indicated by the expression of several genes involved in germinal center processes, including CXCR4, CXCR5, BCL2, and MYC. Additionally, the upregulation of genes characteristic of the immune response in COVID-19, such as ZFP36 and DUSP1, suggested that the differentiation and activation of atypical MBCs may be influenced by exposure to SARS-CoV-2 and that these genes may contribute to the immune response for COVID-19 recovery. Our study contributes to a better understanding of atypical MBCs in COVID-19 and the role of other B cell subsets across different clinical manifestations.


Assuntos
COVID-19 , Células B de Memória , SARS-CoV-2 , Análise de Célula Única , Humanos , COVID-19/imunologia , COVID-19/virologia , COVID-19/genética , SARS-CoV-2/imunologia , SARS-CoV-2/genética , Células B de Memória/imunologia , Masculino , Adulto , Feminino , Pessoa de Meia-Idade , Perfilação da Expressão Gênica , Transcriptoma , Centro Germinativo/imunologia , Linfócitos B/imunologia , Idoso
4.
Immun Inflamm Dis ; 12(7): e1270, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38967360

RESUMO

BACKGROUND: The emergence of new SARS-CoV-2 variants and the global COVID-19 pandemic spurred urgent vaccine development. While common vaccine side effects are well-documented, rare adverse events necessitate post-marketing surveillance. Recent research linked messenger RNA vaccines to thrombotic microangiopathy (TMA), a group of syndromes characterized by microvascular hemolytic anemia and thrombocytopenia. This report describes a new-onset atypical hemolytic-uremic syndrome (aHUS) occurring after COVID-19 vaccination and complements recent literature. CASE PRESENTATION: A previously healthy 25-year-old woman developed malaise, nausea, edema, and renal dysfunction 60 days postvaccination. Laboratory findings confirmed TMA diagnosis. Genetic testing for complement system mutations was negative. Kidney biopsy supported the diagnosis, and the patient required hemodialysis. CONCLUSION: This case illustrates the rare occurrence of aHUS following COVID-19 vaccination, with unique characteristics compared to previous reports. Despite the critical role of vaccination in pandemic control, emerging adverse events, such as vaccine-related TMA, must be recognized and investigated. Additional clinical trials are imperative to comprehend the clinical features and pathophysiological mechanisms underlying TMA associated with COVID-19 vaccination.


Assuntos
Síndrome Hemolítico-Urêmica Atípica , Vacinas contra COVID-19 , COVID-19 , SARS-CoV-2 , Humanos , Feminino , Adulto , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , COVID-19/prevenção & controle , COVID-19/imunologia , SARS-CoV-2/imunologia , Vacinas contra COVID-19/efeitos adversos , Diálise Renal , Vacinação/efeitos adversos
5.
Front Psychiatry ; 15: 1421501, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38962057

RESUMO

Introduction: Currently, 21 million people live with the disease, mostly in low to middle-income countries. We aimed to assess the survival of patients with schizophrenia using clozapine compared with non-clozapine atypical antipsychotics provided by the Brazilian National Health System using real-world data. Materials and methods: This is an open retrospective cohort study of patients diagnosed with schizophrenia to whom atypical antipsychotics were dispensed by the Brazilian National Health System between 2000 and 2015, based on deterministic-probabilistic pairing of administrative data records. The Kaplan-Meier method was used to estimate the cumulative probability of survival and the Cox proportional hazards model was adjusted to assess the risk factors for survival via the hazard ratio (HR). Result: Participants were 375,352 adults with schizophrenia, with an overall survival rate of 76.0% (95%CI 75.0-76.0) at the end of the cohort. Multivariate analysis indicated a greater risk of death for men (HR=1.30; 95%CI 1.27-1.32), older adults (HR=17.05; 95%CI 16.52-17.60), and in the Southeast region of Brazil (HR=1.20; 95%CI 1.17-1.23). Patients who used non-clozapine atypical antipsychotics had a 21% greater risk of death when compared to those taking clozapine (HR=1.21; 95%CI 1.14-1.29). Additionally, a history of hospitalization for pneumonia (HR=2.17; 95%CI 2.11-2.23) was the main clinical variable associated with increased risk of death, followed by hospitalization for lung cancer (HR=1.82; 95%CI 1.58-2.08), cardiovascular diseases (HR=1.44; 95%CI 1.40-1.49) and any type of neoplasia (HR=1.29; 95%CI 1.19-1.40). Discussion: This is the first published Brazilian cohort study that evaluated survival in people with schizophrenia, highlighting the impact of atypical antipsychotics. In this real-world analysis, the use of clozapine had a protective effect on survival when compared to olanzapine, risperidone, quetiapine, and ziprasidone.

6.
Infect Dis Now ; 54(5): 104938, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38885813

RESUMO

Chikungunya disease typically presents with the fever-arthralgia-rash symptom triad. However, an increase in the number of atypical clinical manifestations, particularly neurological disorders, has occurred. The current evidence regarding the pooled prevalence of Chikungunya virus (CHIKV)-associated neurological cases (CANCs) suspected of having an arboviral aetiology is not well-understood. Therefore, this meta-analysis included 19 studies (n = 7319 patients) and aimed to determine the pooled rate of exposure to CANC. The pooled positivity rate of CANC was 12 % (95 % CI: 6-19), and Brazil was overrepresented (11/19). These estimations varied between 3 and 14 % based on the diagnostic method (real-time PCR vs. ELISA-IgM) and biological samples (cerebrospinal fluid or blood specimens) used for detection of CHIKV. Regarding the frequency of CHIKV in neurological clinical subgroups, the rates were higher among patients with myelitis (27 %), acute disseminated encephalomyelitis (27 %), Guillain-Barré syndrome (15 %), encephalitis (12 %), and meningoencephalitis (7 %). Our analysis highlights the significant burden of CANC. However, the data must be interpreted with caution due to the heterogeneity of the results, which may be related to the location of the studies covering endemic periods and/or outbreaks of CHIKV. Current surveillance resources should also focus on better characterizing the epidemiology of CHIKV infection in neurological disorders. Additionally, future studies should investigate the interactions between CHIKV and neurological diseases with the aim of gaining deeper insight into the mechanisms underlying the cause-and-effect relationship between these two phenomena.


Assuntos
Febre de Chikungunya , Vírus Chikungunya , Síndrome de Guillain-Barré , Doenças do Sistema Nervoso , Humanos , Brasil/epidemiologia , Febre de Chikungunya/epidemiologia , Febre de Chikungunya/diagnóstico , Vírus Chikungunya/isolamento & purificação , Encefalomielite Aguda Disseminada/epidemiologia , Encefalomielite Aguda Disseminada/virologia , Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/virologia , Meningoencefalite/epidemiologia , Meningoencefalite/virologia , Mielite/epidemiologia , Mielite/virologia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/virologia , Prevalência
7.
Expert Rev Hematol ; 17(7): 361-374, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38841813

RESUMO

INTRODUCTION: Comprehensive information about atypical hemolytic uremic syndrome (aHUS) is relatively scarce outside of Europe and North America. This narrative review assembles available published data about the clinical presentation and management of aHUS in Latin America. AREAS COVERED: A search conducted in February 2023 of the MEDLINE (from inception), Embase (from inception), and LILACS/IBECS (1950 to 2023) databases using search terms 'atypical hemolytic uremic syndrome' and 'Latin America' and their variations retrieved 51 records (full papers and conference abstracts) published in English, Spanish, or Portuguese. After de-duplication, manual screening of titles/abstracts and addition of author-known articles, 25 articles were included of which 17 (68%) are full papers. All articles were published during the years 2013-2022. Articles include cohort studies, a registry analysis, and case reports from Argentina, Brazil, Chile and Columbia. Overall, Latin American patients with aHUS present the classic epidemiological, clinical, and genetic characteristics associated with this condition as described in other world regions. Depending on the country and time of reporting, aHUS in Latin America was treated mainly with plasma therapy and/or eculizumab. Where reported, eculizumab substantially improved aHUS-related outcomes in almost all adult and pediatric patients. EXPERT OPINION: Eculizumab has dramatically altered the natural course of aHUS, improving prognosis and patient outcomes. Addressing economic challenges and investing in healthcare infrastructure will be essential to implement strategies for timely detection and early treatment of aHUS in Latin America.


Assuntos
Síndrome Hemolítico-Urêmica Atípica , Gerenciamento Clínico , Humanos , América Latina/epidemiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/epidemiologia , Anticorpos Monoclonais Humanizados/uso terapêutico
8.
J Surg Case Rep ; 2024(6): rjae403, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38863961

RESUMO

Toxic megacolon denotes an abrupt non-obstructive distension of the colon, accompanied by systemic signs of toxicity. Mortality rates can soar as high as 7.9%. While primarily linked with chronic bowel conditions, the incidence attributed to Clostridioides difficile has surged due to the indiscriminate use of broad-spectrum antibiotics. Surgical intervention becomes necessary in the majority of cases. Herein, we illustrate the case of a 50-year-old female presenting with episodic epigastric pain lasting 9 h, vomiting, and watery bowel movements, devoid of peritoneal irritation findings and lacking a history of chronic intestinal inflammation. Under certain circumstances, toxic megacolon may manifest atypically, underscoring the importance of conducting a comprehensive medical history and clinical assessment. Moreover, it is imperative to solicit pertinent paraclinical investigations to address the patient holistically and foster a favorable clinical outcome.

9.
Front Med (Lausanne) ; 11: 1400423, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38835799

RESUMO

Hansen's disease, or leprosy, is a disease characterized by dermatological and neurological disorders. A neural form also exists, in which peripheral neuropathy occurs in the absence of skin lesions. However, cases of leprosy that involve the central nervous system and proximal nerves are rare in the literature. We describe the case of an oligosymptomatic patient diagnosed with the neural form of leprosy with involvement of peripheral nerves, dorsal root ganglion, and cervical spinal cord in an atypical presentation of the disease. Through complementary examinations and nerve biopsies, the bacillus was identified, and treatment was subsequently initiated. This case highlights the importance of investigating the suspicion of leprosy, even in cases with atypical manifestations, as early diagnosis and treatment can reduce neurological damage and deformities.

10.
Orbit ; : 1-4, 2024 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-38796753

RESUMO

An 88-year-old male patient presented with a large mass on the left lateral bulbar conjunctiva. The tumor appeared two months after the resection of a conjunctival atypical fibroxanthoma (AFX) performed by a cornea specialist. Magnetic resonance imaging of the orbits showed deep orbital invasion along the lateral rectus muscle. The mass and the entire conjunctival sac were totally excised with lid-sparing orbital exenteration. Histopathological analysis confirmed that the mass was an extension of the AFX. Two weeks after surgery, large B-cell lymphoma was diagnosed in the oropharynx. Chemotherapy was initiated, and after seven months of follow-up, there was no recurrence of the AFX. The authors believe that this is the first report of orbital invasion by AFX.

11.
J Obstet Gynaecol Res ; 50(7): 1268-1272, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38720638

RESUMO

Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare disease. There are only few reports in the literature, and most are in the puerperium period. It is a thrombotic microangiopathy (TMA) characterized for microangiopathic hemolytic anemia, thrombocytopenia, and renal dysfunction. We report the case of a pregnant patient at 26.3 gestation weeks, who developed clinical features of TMA, neurological alterations, and septic shock; then after fetus and placental delivery, no clinical improvement was observed; a diagnostic protocol was performed due to suspicion of P-aHUS, showing improvement after the plasma exchange sessions and eculizumab. We present here a brief review of the case since it is an entity that needs to be suspected during pregnancy when TMA features and requires an immediate diagnosis to provide timely treatment.


Assuntos
Síndrome Hemolítico-Urêmica Atípica , Humanos , Feminino , Gravidez , Síndrome Hemolítico-Urêmica Atípica/terapia , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Adulto , Troca Plasmática , Anticorpos Monoclonais Humanizados/uso terapêutico , Anticorpos Monoclonais Humanizados/administração & dosagem , Complicações Hematológicas na Gravidez/terapia , Complicações Hematológicas na Gravidez/diagnóstico
12.
Front Public Health ; 12: 1358261, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38628855

RESUMO

Infections caused by mycobacteria, including Mycobacterium tuberculosis complex (MTBC) and non-tuberculous mycobacteria (NTM), are a major public health issue worldwide. An accurate diagnosis of mycobacterial species is a challenge for surveillance and treatment, particularly in high-burden settings usually associated with low- and middle-income countries. In this study, we analyzed the clinical performance of two commercial PCR kits designed for the identification and differentiation of MTBC and NTM, available in a high-burden setting such as Ecuador. A total of 109 mycobacteria isolates were included in the study, 59 of which were previously characterized as M. tuberculosis and the other 59 as NTM. Both kits displayed great clinical performance for the identification of M. tuberculosis, with 100% sensitivity. On the other hand, for NTM, one of the kits displayed a good clinical performance with a sensitivity of 94.9% (CI 95%: 89-100%), while the second kit had a reduced sensitivity of 77.1% (CI 95%: 65-89%). In conclusion, one of the kits is a fast and reliable tool for the identification and discrimination of MTBC and NTM from clinical isolates.


Assuntos
Mycobacterium tuberculosis , Tuberculose , Humanos , Mycobacterium tuberculosis/genética , Micobactérias não Tuberculosas/genética , Saúde Pública , Tuberculose/diagnóstico , Reação em Cadeia da Polimerase
13.
Neuroophthalmology ; 48(1): 30-36, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38357623

RESUMO

Vision specialists will benefit from increased awareness of posterior cortical atrophy (PCA) syndrome. Failure to adequately identify the chief complaint as a visual symptom may lead to incorrect diagnosis or diagnostic delay. A previously healthy, 59-year-old woman presented with a 5-year history of 'losing her stuff'. Upon psychiatric and neuro-ophthalmological evaluation, this symptom was better recognised as a feature of visual agnosia and simultanagnosia. She also presented with multiple previously unrecognised symptoms indicative of higher visual processing dysfunction, such as alexia without agraphia, ocular motor apraxia, optic ataxia, prosopagnosia, akinetopsia and topographagnosia, so further assessment to investigate for PCA was carried out. After a work-up including cognitive assessment, brain structural/functional imaging, and laboratory tests she was diagnosed with visual-variant Alzheimer's disease. Patients with PCA merit a detailed review of their symptoms, as well as the use of office tests such as cognitive evaluation tools, different types of perimetry, colour vision tests, and non-delayed psychiatric consultation for correct management and assessment. This report will emphasise five key aspects to be considered when evaluating patients with PCA.

14.
Glob Pediatr Health ; 11: 2333794X241231133, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38343496

RESUMO

Objectives. Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease with genetic predisposition and represents up to 10% of pediatric hemolytic uremic syndrome (HUS) cases. Few studies have evaluated aHUS in Latin American population. We studied a Colombian pediatric cohort to delineate disease presentation and outcomes. Methods. A multicenter cohort of 27 Colombian children with aHUS were included. Patients were grouped by age at onset. Clinical features were compared using analysis of variance (ANOVA) and Fisher exact tests. Renal biopsy was performed on 6 patients who were suspected of having other renal diseases before aHUS diagnosis. Results. Most patients were male (70%). The onset of aHUS occurred frequently before age 4 years (60%) and followed gastroenteritis as the main triggering event (52%). Age groups showed comparable clinical presentation, disease severity, treatment, and outcomes. Pulmonary involvement (67%) was the main extrarenal manifestation, particularly in the 1 to 7 age group (P = .01). Renal biopsies were as follows: 3 had membranoproliferative glomerulonephritis (MPGN) type I, one MPGN type III, one C3-glomerulonephritis, and one rapidly progressive GN. Genetic screening was available in 6 patients and identified 2xCFHR5, 2xMCP, 1xADAMTS13/THBD, and 1xDGKE mutations. A total of 15 relapses were seen, of which 8 (72%) occurred in the 1 to 7 age group. The renal outcome was not significantly different regardless of age group. Conclusion. In our cohort, we observed a relatively high frequency of extrarenal involvement at first presentation represented by pulmonary manifestations. The renal prognosis at initial presentation was worse than in previous reports.

15.
J Pediatr ; 269: 113974, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38401790

RESUMO

OBJECTIVE: To determine among infants born very preterm (VPT) or with very low birth weight (VLBW) the incidence of alterations in thyroid function and associated comorbidities; the incidence of atypical congenital hypothyroidism (CH) requiring thyroxine therapy; and reference ranges for rescreening at 1 month of age. STUDY DESIGN: A retrospective review of infants born VPT or with VLBW and admitted to UC Irvine Medical Center between January 1, 2012, and December 31, 2020. Repeat thyroid screening was obtained at 1 month of life (+10 days). Infants with thyroid-stimulating hormone (TSH) >5 µIU/mL or free thyroxine <0.8 ng/dL underwent follow-up testing and endocrinology consultation. Initial newborn screening (NBS) and repeat thyroid screening data were collected via chart review. Demographic data and short-term outcomes were abstracted from the California Perinatal Quality Care Collaborative database. RESULTS: In total, 430 patients were included; 64 of 429 patients (14.9%) had TSH >5 µIU/mL and 20 of 421 patients (4.8%) had free thyroxine <0.8 ng/dL. Logistic regression analysis identified small for gestational age (P = .044), patent ductus arteriosus (P = .013), and late-onset sepsis (P = .026) as risk factors associated with delayed TSH rise. Atypical CH requiring treatment through neonatal intensive care unit discharge was diagnosed in 6 patients (incidence of 1.4%); none were identified by NBS. The 90th percentile TSH for infants with extremely low birth weight (<1000 g) was 7.2 µIU/mL, and the 95th percentile for those with birth weight of 1000-1500 g was 6.1 µIU/mL; using these cutoff values identified all infants diagnosed with atypical CH with 100% sensitivity and 90%-95% specificity. CONCLUSIONS: Abnormal thyroid function is common in infants born preterm. Those infants, including some with atypical CH, are missed by NBS. We recommend repeat thyroid screening with TSH at 1 month of age in infants born VPT or infants with VLBW to identify CH that may require therapy.


Assuntos
Hipotireoidismo Congênito , Recém-Nascido de muito Baixo Peso , Triagem Neonatal , Tireotropina , Humanos , Recém-Nascido , Estudos Retrospectivos , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/epidemiologia , Masculino , Feminino , Triagem Neonatal/métodos , Tireotropina/sangue , Tiroxina/sangue , Tiroxina/uso terapêutico , Lactente Extremamente Prematuro , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/sangue , Doenças do Prematuro/epidemiologia , Testes de Função Tireóidea , Incidência
16.
Metab Brain Dis ; 39(4): 577-587, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38305999

RESUMO

Atypical parkinsonism (AP) is a group of complex neurodegenerative disorders with marked clinical and pathophysiological heterogeneity. The use of systems biology tools may contribute to the characterization of hub-bottleneck genes, and the identification of its biological pathways to broaden the understanding of the bases of these disorders. A systematic search was performed on the DisGeNET database, which integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. The tools STRING 11.0 and Cytoscape 3.8.2 were used for analysis of protein-protein interaction (PPI) network. The PPI network topography analyses were performed using the CytoHubba 0.1 plugin for Cytoscape. The hub and bottleneck genes were inserted into 4 different sets on the InteractiveVenn. Additional functional enrichment analyses were performed to identify Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways and gene ontology for a described set of genes. The systematic search in the DisGeNET database identified 485 genes involved with Atypical Parkinsonism. Superimposing these genes, we detected a total of 31 hub-bottleneck genes. Moreover, our functional enrichment analyses demonstrated the involvement of these hub-bottleneck genes in 3 major KEGG pathways. We identified 31 highly interconnected hub-bottleneck genes through a systems biology approach, which may play a key role in the pathogenesis of atypical parkinsonism. The functional enrichment analyses showed that these genes are involved in several biological processes and pathways, such as the glial cell development, glial cell activation and cognition, pathways were related to Alzheimer disease and Parkinson disease. As a hypothesis, we highlight as possible key genes for AP the MAPT (microtubule associated protein tau), APOE (apolipoprotein E), SNCA (synuclein alpha) and APP (amyloid beta precursor protein) genes.


Assuntos
Redes e Vias Metabólicas , Transtornos Parkinsonianos , Mapas de Interação de Proteínas , Biologia de Sistemas , Humanos , Transtornos Parkinsonianos/genética , Transtornos Parkinsonianos/metabolismo , Redes e Vias Metabólicas/genética , Mapas de Interação de Proteínas/genética , Redes Reguladoras de Genes/genética , Animais
17.
Medicina (B Aires) ; 84(1): 153-157, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38271943

RESUMO

Chikungunya virus is an Alphavirus, it belongs to the family Togaviridae and is transmitted by mosquitoes. It was first described during an outbreak in Southern Tanzania in 1952. It generally causes a febrile syndrome, accompanied by joint pain and arthritis, which is often debilitating and may persist for months or years. Its overall fatality rate is not high, around 0.1%. Atypical and severe cases have been reported. This virus has been detected in more than 110 countries globally. In Northeastern Brazil autochthonous cases have been diagnosed since September 2014. In Argentina, as well as in neighboring countries, cases were increasing during 2023, compared to the same periods in previous years. Until epidemiological week 26 of 2023, 1460 cases of chikungunya fever were reported in Argentina, 72% of them were considered of autochthonous transmission. The case of a 76-year-old female patient is here presented, her comorbidities were hypertension and aortic stenosis, who was admitted to intensive care unit due to septic shock with respiratory focus, interstitial pneumonia in X-ray pattern, and torpid evolution. She died within 24 hours of admission. A report of detectable Chikungunya virus by real-time polymerase chain reaction in real time was received post-mortem. This case results of clinical relevance due to its atypical presentation and the country low prevalence of severe infections by this virus. It warns of the need to include the differential diagnosis in cases with suspected diagnosis.


El virus Chikungunya es un Alfavirus de la familia Togaviridae trasmitido por mosquitos. Fue descrito por primera en un brote en el sur de Tanzania en 1952. Genera clásicamente un síndrome febril con poliartralgias y artritis, que pueden ser incapacitantes y tener una duración prolongada. La mortalidad global ronda en 0.1%. Existen reportes en la literatura de presentaciones atípicas y graves con compromiso de múltiples órganos. Se ha detectado la presencia del virus en más de 110 países. En Brasil, en la región noreste, se han hallado casos autóctonos desde septiembre de 2014. En Argentina y países limítrofes, se presentan casos en aumento durante 2023, con respecto a iguales periodos en años previos. Hasta la semana epidemiológica N° 26 del año 2023 se registraron en Argentina 1460 casos de fiebre chikungunya, considerándose autóctonos 72% de ellos. Se presenta el caso de una mujer de 76 años, con antecedentes de hipertensión arterial y estenosis aortica, admitida en terapia intensiva por shock séptico con foco respiratorio, con patrón de neumonía intersticial, evolución tórpida y óbito dentro de las 24 horas del ingreso. Se recibe postmorten el resultado detectable de virus Chikungunya por reacción en cadena de la polimerasa en tiempo real. Este caso, resulta de importancia clínica dada la presentación atípica del mismo y por la baja prevalencia nacional de infecciones graves por dicho virus, alerta sobre la necesidad de incluir el diagnóstico diferencial en los pacientes con sospecha diagnóstica.


Assuntos
Febre de Chikungunya , Vírus Chikungunya , Humanos , Feminino , Animais , Idoso , Febre de Chikungunya/diagnóstico , Febre de Chikungunya/epidemiologia , Surtos de Doenças , Diagnóstico Diferencial , Cuidados Críticos
18.
Meat Sci ; 209: 109415, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38103397

RESUMO

This study evaluated Brazilian consumer perceptions of beef with different pH values at 48 h post-mortem (pHu) through sensory analysis. A total of 138 consumers evaluated raw and grilled steaks. The steaks were divided according to their pHu (normal pH < 5.8, atypical darkness, firmness, and dryness [DFD] > 5.8 pH < 6, and typical DFD pH ≥ 6). There was no difference in the visual evaluation of raw steaks or purchase intention. Evaluation of the grilled steaks showed that consumers preferred typical DFD steaks in terms of tenderness, and there was a tendency for the same behavior in terms of juiciness. No differences were observed in other evaluated parameters. Cluster analysis identified three consumer segments for visual evaluation, indicating a preference for steaks with higher pHu in terms of freshness. Additionally, four segments were identified for evaluation, with some groups expressing a preference for higher pHu meat in terms of freshness appearance, tenderness liking, and overall liking. The developed regression models for overall liking and purchase intention exhibited favorable adjustment indices, with r2 values of 0.86 and 0.57, respectively, for raw steaks and 0.90 for grilled steaks for in overall liking. Regression models indicated a strong influence of color and freshness appearance, in addition to tenderness liking and juiciness liking, on the overall liking scores of consumers. These results indicate that Brazilian consumers do not dislike dark cutting and, despite differentiating their greater tenderness, do not show a preference between the different pHu values.


Assuntos
Comportamento do Consumidor , Carne , Animais , Bovinos , Brasil , Análise por Conglomerados , Concentração de Íons de Hidrogênio
19.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1535303

RESUMO

ABSTRACT This study presents a case of atypical manifestation of secondary syphilis. Diagnosis was initiated prompted by the patient's complaint of a lower lip lesion, present for three months, resembling a malignant neoplasm. The lesion, a 3 cm (diameter) ulcerated nodule, arising from conjunctive tissue, raised concern. However, further physical examination revealed additional clinical features, including cervical micropolyadenopathy and erythematous skin lesions, prompting a reevaluation of the diagnosis, most likely secondary syphilis. These findings led to a serological investigation, which, ultimately, confirmed the diagnosis of syphilis. The case underscores the importance of recognizing syphilis as a formidable imitator, posing challenges in establishing differential diagnoses of mucocutaneous diseases.

20.
Medicina (B.Aires) ; Medicina (B.Aires);84(1): 153-157, 2024. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1558461

RESUMO

Resumen El virus Chikungunya es un Alfavirus de la familia Togaviridae trasmitido por mosquitos. Fue descrito por primera en un brote en el sur de Tanzania en 1952. Genera clásicamente un síndrome febril con poliartral gias y artritis, que pueden ser incapacitantes y tener una duración prolongada. La mortalidad global ronda en 0.1%. Existen reportes en la literatura de presenta ciones atípicas y graves con compromiso de múltiples órganos. Se ha detectado la presencia del virus en más de 110 países. En Brasil, en la región noreste, se han hallado casos autóctonos desde septiembre de 2014. En Argentina y países limítrofes, se presentan casos en aumento duran te 2023, con respecto a iguales periodos en años previos. Hasta la semana epidemiológica N° 26 del año 2023 se registraron en Argentina 1460 casos de fiebre chikun gunya, considerándose autóctonos 72% de ellos. Se presenta el caso de una mujer de 76 años, con an tecedentes de hipertensión arterial y estenosis aortica, admitida en terapia intensiva por shock séptico con foco respiratorio, con patrón de neumonía intersticial, evolu ción tórpida y óbito dentro de las 24 horas del ingreso. Se recibe postmorten el resultado detectable de virus Chikungunya por reacción en cadena de la polimerasa en tiempo real. Este caso, resulta de importancia clínica dada la pre sentación atípica del mismo y por la baja prevalencia nacional de infecciones graves por dicho virus, alerta sobre la necesidad de incluir el diagnóstico diferencial en los pacientes con sospecha diagnóstica.


Abstract Chikungunya virus is an Alphavirus, it belongs to the family Togaviridae and is transmitted by mos quitoes. It was first described during an outbreak in Southern Tanzania in 1952. It generally causes a febrile syndrome, accompanied by joint pain and arthritis, which is often debilitating and may persist for months or years. Its overall fatality rate is not high, around 0.1%. Atypical and severe cases have been reported. This virus has been detected in more than 110 countries globally. In Northeastern Brazil autoch thonous cases have been diagnosed since September 2014. In Argentina, as well as in neighboring countries, cases were increasing during 2023, compared to the same periods in previous years. Until epidemiological week 26 of 2023, 1460 cases of chikungunya fever were reported in Argentina, 72% of them were considered of autochthonous transmission. The case of a 76-year-old female patient is here presented, her comorbidities were hypertension and aortic stenosis, who was admitted to intensive care unit due to septic shock with respiratory focus, intersti tial pneumonia in X-ray pattern, and torpid evolution. She died within 24 hours of admission. A report of detectable Chikungunya virus by real-time polymerase chain reaction in real time was received post-mortem. This case results of clinical relevance due to its atypi cal presentation and the country low prevalence of severe infections by this virus. It warns of the need to include the differential diagnosis in cases with sus pected diagnosis.

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