Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 359
Filtrar
1.
J Stroke Cerebrovasc Dis ; 33(1): 107459, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38000111

RESUMO

OBJECTIVES: To examine the proportions of unemployment, decreased household income, and newly acquired disability, and their impact on long-term mortality after intensive care unit (ICU) admission due to nontraumatic intracranial hemorrhage (IH). MATERIALS AND METHODS: This nationwide population-based retrospective cohort study enrolled adult patients admitted to the ICU because of nontraumatic IH between 2010 and 2018 in South Korea. Patients who were alive ≥365 days after ICU admission were defined as nontraumatic IH survivors. RESULTS: In total, 104,086 nontraumatic IH survivors were included in the final analysis. Among them, 7,225 (6.9 %) experienced job loss, 25,709 (24.7 %) experienced decreased household income, and 20,938 (20.1 %) had newly acquired disabilities, of whom 14,188 (13.6 %) had newly acquired brain disabilities. Male sex, increased duration of intensive care unit stay, comorbid status, hospital admission through the emergency room, nontraumatic intracerebral hemorrhage, receipt of surgery, mechanical ventilatory support, and increased total cost of hospitalization were associated with job loss, decreased household income, and newly acquired disabilities. However, these changes were not significantly associated with 2-year all-cause mortality (adjusted hazard ratio: 1.00, 95 % confidence interval: 0.95, 1.06; P = 0.997). CONCLUSIONS: Many nontraumatic IH survivors experienced unemployment, decreased household income, and newly acquired disability one year after ICU admission in South Korea. Some factors were potential risk factors for these changes, but the changes were not associated with 2-year all-cause mortality.


Assuntos
Hemorragias Intracranianas , Desemprego , Adulto , Humanos , Masculino , Estudos Retrospectivos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/epidemiologia , Unidades de Terapia Intensiva , Sobreviventes
2.
Acta méd. costarric ; 65(2): 92-96, abr.-jun. 2023. tab, graf
Artigo em Espanhol | LILACS, SaludCR | ID: biblio-1556684

RESUMO

Resumen La deficiencia congénita de factor VII es uno de los desórdenes congénitos de la coagulación más comunes, con una prevalencia a nivel mundial de 1:300,000- 1:500,000. Se presenta el caso de un paciente masculino de 37 semanas y 5 días, nacido por cesárea intraparto y con el antecedente heredofamiliar de muerte de hermano a los 4 días de nacido por hemorragia intracraneal, quien a los 14 días de nacido es llevado a emergencias por sangrado umbilical que persistía después del desprendimiento del cordón. Su abordaje inicial incluyó la toma de tiempos de coagulación, lo que mostró alteración del tiempo de protrombina con tiempo de tromboplastina parcial y fibrinógeno normales. El sangrado, así como el tiempo de protrombina prolongado, persistió a pesar de que se administrara vitamina K en tres ocasiones y de transfundir plasma fresco congelado. Se sospechó defecto congénito de factor VII, que se confirmó con la cuantificación del factor. A los 2 meses y 10 días de edad, se le realizaron estudios moleculares basados en secuenciación masiva de nueva generación (NGS por sus siglas en inglés). El análisis determinó dos variantes heterocigotas: F7, intrón 5, c.430+1G>A y F7, intrón 8, c.805+1G>A. Actualmente, el paciente se maneja con profilaxis 5 días de la semana con factor VII recombinante 200 µg/día intravenoso (280 µg/kg) sin recurrencia de sangrados.


Abstract Factor VII congenital deficiency is one of the most common congenital deficiencies of the blood system, with a worldwide prevalence of 1:300,000- 1:500,000. Here we describe a male patient, born by C section, with the family history of death at 4 days old of a sibling caused by intracranial hemorrhage, who presented bleeding at the umbilical cord site at 14 days old, even after falling of the cord. The initial assessment included laboratory tests with coagulation times revealing prolonged prothrombin time, with normal partial thromboplastin time as well as fibrinogen. The bleeding and the prolonged prothrombin time persisted despite the administration of vitamin K in three doses as well as fresh frozen plasma. Congenital defect of factor VII was suspected and later confirmed by measuring the factor. At the age of 2 months and 10 days, molecular studies based on next-generation massive sequencing (NGS) were performed. The analysis exhibited two heterozygous variants: F7, intron 5, c.430+1G>A y F7, intron 8, c.805+1G>A. Currently the patient is receiving prophylaxis 5 days per week with recombinant factor VII 200 µg/ day intravenous (280 µg/kg) with no recurrent bleeding.


Assuntos
Humanos , Masculino , Lactente , Hemorragias Intracranianas/diagnóstico , Deficiência do Fator VII/diagnóstico , Costa Rica , Hereditariedade
3.
Int J Neurosci ; 133(9): 977-986, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35156526

RESUMO

BACKGROUND: Intracranial hemorrhage (ICH) in acute leukemia (AL) patients leads to high morbidity and mortality, treatment approaches for ICH are generally ineffective. Thus, early identification of which subjects are at high risk of ICH is of key importance. Currently, machine learning can achieve well predictive capability through constructing algorithms that simultaneously exploit the information coming from clinical features. METHODS: After rigid data preprocessing, 42 different clinical features from 948 AL patients were used to train different machine learning algorithms. We used the feature selection algorithms to select the top 10 features from 42 clinical features. To test the performance of the machine learning algorithms, we calculated area under the curve (AUC) values from receiver operating characteristic (ROC) curves along with 95% confidence intervals (CIs) by cross-validation. RESULTS: With the 42 features, RF exhibited the best predictive power. After feature selection, the top 10 features were international normalized ratio (INR), prothrombin time (PT), creatinine (Cr), indirect bilirubin (IBIL), albumin (ALB), monocyte (MONO), platelet (PLT), lactic dehydrogenase (LDH), fibrinogen (FIB) and prealbumin (PA). Among the top 10 features, INR, PT, Cr, IBIL and ALB had high predictive performance with an AUC higher than 0.8 respectively. CONCLUSIONS: The RF algorithm exhibited a higher cross-validated performance compared with the classical algorithms, and the selected important risk features should help in individualizing aggressive treatment in AL patients to prevent ICH. Efforts that will be made to test and optimize in independent samples will warrant the application of such algorithm and predictors in the future.


Assuntos
Algoritmos , Leucemia , Humanos , Curva ROC , Aprendizado de Máquina , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/diagnóstico por imagem
4.
J Am Heart Assoc ; 11(23): e026388, 2022 12 06.
Artigo em Inglês | MEDLINE | ID: mdl-36444864

RESUMO

Background The association between cancer types and specific bleeding events in patients with atrial fibrillation has been scarcely investigated. Also, the performance of bleeding risk scores in this high-risk subgroup of patients is unclear. We investigated the rate of any bleeding, intracranial hemorrhage, major bleeding, and gastrointestinal bleeding according to cancer types in patients with atrial fibrillation. We also tested the predictive value of HAS-BLED, ATRIA, and ORBIT bleeding risk scores. Methods and Results Observational retrospective cohort study including hospitalized patients with atrial fibrillation and cancer from the French National Hospital Discharge Database (Programme de Medicalisation des Systemes d'Information) from January 2010 to December 2019. Major bleeding was defined according to Bleeding Academic Research Consortium definitions. Patients with HAS-BLED ≥3, ATRIA ≥5, or ORBIT ≥4 were classified as at high bleeding risk. Receiver operating characteristic analysis for each score against any bleeding, major bleeding, gastrointestinal bleeding, and intracranial hemorrhage was performed. Areas under the curve (AUCs) were then compared. We included 399 344 patients. Mean age was 77.9±10.2 years, and 63.2% were men. The highest intracranial hemorrhage rates were found in leukemia (1.89%/year), myeloma (1.52%/year), lymphoma and liver (1.45%/year), and pancreas cancer (1.41%/year). Receiver operating characteristic analysis showed that ORBIT score predicted best for any bleeding. In addition, ORBIT score ≥4 had the highest predictivity for major bleeding (AUC, 0.805), followed by HAS-BLED ≥3 and ATRIA ≥5 (AUCs, 0.716 and 0.700, respectively). HAS-BLED and ORBIT performed best for intracranial hemorrhage (AUCs, 0.744 and 0.742 for continuous scores, respectively), better than ATRIA (AUC, 0.635). For gastrointestinal bleeding, ORBIT ≥4 had the highest predictivity (AUC, 0.756), followed by the HAS-BLED ≥3 (AUC, 0.702) and ATRIA ≥5 (AUC, 0.662). Conclusions Some cancer types carry a greater bleeding risk in patients with atrial fibrillation. The identification and management of modifiable bleeding risk factors is crucial in these patients, as well as to flag up high bleeding risk patients for early review and follow-up.


Assuntos
Fibrilação Atrial , Neoplasias Orbitárias , Idoso , Idoso de 80 Anos ou mais , Humanos , Fibrilação Atrial/complicações , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/tratamento farmacológico , Hemorragia Gastrointestinal/induzido quimicamente , Hemorragia Gastrointestinal/epidemiologia , Hospitais , Hemorragias Intracranianas/induzido quimicamente , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/epidemiologia , Estudos Retrospectivos , Fatores de Risco
5.
Pediatr Blood Cancer ; 69(9): e29811, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35709337

RESUMO

Hemophilia is the deficiency of plasma clotting factor VIII (hemophilia A) or IX (hemophilia B) where management focuses on the prevention and treatment of acute bleeding symptoms and their sequelae. The most concerning risk is for life-threatening bleeding, including intracranial hemorrhage (ICH), which is caused by head trauma. Guidelines exist for the evaluation and management of pediatric head trauma, including the Pediatric Emergency Care Applied Research Network (PECARN) protocol, but limited evidence exists for when hemophilia patients present to the emergency department (ED), specifically with head trauma. Literature is limited regarding ICH and hemophilia, which further supports the culture of uncertainty among providers. The objective of this study is to conduct a retrospective chart review to determine the prevalence and clinical characteristics of ICH, and to describe computed tomography (CT) scan use in hemophilia patients who present to Phoenix Children's Hospital (PCH) ED with head trauma from January 1, 2007 to June 1, 2019. A total of 89 ED visits and 43 patients met inclusion criteria, and prevalence of ICH was determined to be 4% with the patients presenting with varied clinical characteristics and few commonalities. Using these data, we propose a new algorithm to aid clinicians in determining the need for CT scan in pediatric hemophilia patients who present to the ED with head trauma.


Assuntos
Traumatismos Craniocerebrais , Hemofilia A , Algoritmos , Criança , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/terapia , Serviço Hospitalar de Emergência , Hemofilia A/complicações , Hemofilia A/diagnóstico , Hemofilia A/terapia , Hemorragia/complicações , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Hemorragias Intracranianas/terapia , Estudos Retrospectivos
7.
Eur J Haematol ; 108(4): 310-318, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34923665

RESUMO

BACKGROUND: Intracranial hemorrhage is seen more frequently in acute leukemia patients compared to the general population. Besides leukemia-related risk factors, also risk factors that are present in the general population might contribute to hemorrhagic complications in leukemia patients. Of those, cardiovascular risk factors leading to chronic vascular damage could modulate the occurrence of intracranial hemorrhage in these patients, as during their disease and treatment acute endothelial damage occurs due to factors like thrombocytopenia and inflammation. OBJECTIVES: Our aim was to explore if cardiovascular risk factors can predict intracranial hemorrhage in acute leukemia patients. METHODS: In a case-control study nested in a cohort of acute leukemia patients, including 17 cases with intracranial hemorrhage and 55 matched control patients without intracranial hemorrhage, data on cardiovascular risk factors were collected for all patients. Analyses were performed via conditional logistic regression. RESULTS: Pre-existing hypertension and ischemic heart disease in the medical history were associated with intracranial hemorrhage, with an incidence rate ratio of 12.9 (95% confidence interval [CI] 1.5 to 109.2) and 12.1 (95% CI 1.3 to110.7), respectively. CONCLUSION: Both pre-existing hypertension and ischemic heart disease seem to be strong predictors of an increased risk for intracranial hemorrhage in leukemia patients.


Assuntos
Doenças Cardiovasculares , Leucemia Mieloide Aguda , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Estudos de Casos e Controles , Fatores de Risco de Doenças Cardíacas , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/epidemiologia , Hemorragias Intracranianas/etiologia , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Fatores de Risco
8.
Eur J Haematol ; 108(2): 125-132, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34714547

RESUMO

OBJECTIVES AND METHODS: Intracranial hemorrhage (ICH) in acute myeloid leukemia (AML) patients is a major concern due to the increased risk of mortality. Few studies have examined ICH specifically in newly diagnosed AML patients receiving intensive induction chemotherapy (IC) and prophylactic platelet transfusions during thrombocytopenia <10/nL. This retrospective cohort study included 423 newly diagnosed AML patients without acute promyelocytic leukemia who underwent IC between 2007 and 2019. We assessed risk factors, clinical features, and outcomes of ICH. RESULTS: 17 of 423 patients (4%) suffered ICH during hospital stay, and 4 patients (24%) died directly because of ICH despite routine prophylactic platelet transfusions. Patients with ICH had a negatively impacted overall survival (median OS, 20.1 vs. 104.8 months) and were more likely not to continue with curative treatment. Main risk factors were female gender, severe thrombocytopenia, and decreased fibrinogen. Patients with subsequent ICH also had laboratory signs of liver dysfunction. CONCLUSIONS: Intracranial hemorrhage remains a potentially deadly complication with notable incidence despite prophylactic platelet substitution, suggesting that additional prophylactic interventions may be required to further reduce the frequency of ICH in high-risk patients. Unrecognized genetic factors may simultaneously predispose to AML and platelet dysfunction with ICH.


Assuntos
Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Diagnóstico Diferencial , Gerenciamento Clínico , Suscetibilidade a Doenças , Feminino , Humanos , Imuno-Histoquímica , Quimioterapia de Indução/métodos , Hemorragias Intracranianas/mortalidade , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/mortalidade , Leucemia Promielocítica Aguda/diagnóstico , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto Jovem
10.
J Vasc Surg ; 75(2): 592-598.e1, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34508798

RESUMO

OBJECTIVE: Cerebral hyperperfusion syndrome (CHS) is a rare but potentially devastating complication after carotid endarterectomies (CEA). Its symptoms range from new-onset unilateral headache (HA) to intracranial hemorrhage (ICH). Risk factors for CHS in the literature to date have not yet yielded a consensus. This study examines intraoperative and postoperative blood pressure variations as potential risk factors for HA. METHODS: A single-center retrospective review at a tertiary care center from January 2010 to November 2019 was performed. Inclusion criteria were all patients undergoing CEA for symptomatic or asymptomatic carotid disease. Patients with incomplete charts were excluded. Primary endpoints were new-onset unilateral HA or postoperative ICH. Data on intraoperative and postoperative mean arterial pressure (MAP), systolic blood pressure (SBP), the mode of endarterectomy, shunt placement, and contralateral carotid status were collected. RESULTS: There were 735 patients who met the inclusion criteria: 430 patients underwent modified eversion CEA (59%) and 305 patients for patch angioplasty (42%). The incidence of HA was 19% (n = 142) in our total cohort. Of the 19% with HA, 1.5% (n = 11) demonstrated no relief with analgesics and strict blood pressure control; noncontrast head computed tomography scans were performed subsequently. One patient (0.1%) had an ipsilateral ICH. Univariate analysis demonstrated that greater intraoperative MAP peak had the highest risk for HA (odds ratio [OR], 1.014; 95% confidence interval [CI], 1.007-1.022; P = .0002), followed by intraoperative MAP variability (OR, 1.011; 95% CI,1.005-1.018; P ≤ .0008), and peak intraoperative SBP (OR, 1.01; 95% CI, 1.004-1.015; P = .0011). An unpaired Student t test identified change in intraoperative MAP (P < .005), change in the SBP (P < .005), and peak SBP (P < .001) were significantly associated with HA. Interestingly, there was no significant difference between postoperative MAP variability and HA (P = .1). The mode of endarterectomy showed no statistically significant difference in risk for developing HA (OR, 1.165; 95%; 95% CI, 0.801-1.694; P = .42). CONCLUSIONS: Greater intraoperative variability in blood pressures are significantly associated with a higher risk of HA. Adhering to stricter intraoperative blood pressure parameters and limiting blood pressure variability may be beneficial at decreasing the incidence of CHS and its complications.


Assuntos
Pressão Sanguínea/fisiologia , Endarterectomia das Carótidas/efeitos adversos , Cefaleia/etiologia , Hemorragias Intracranianas/complicações , Hemorragia Pós-Operatória/complicações , Medição de Risco/métodos , Idoso , Artérias Carótidas , Estenose das Carótidas/cirurgia , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Hipertensão , Incidência , Hemorragias Intracranianas/diagnóstico , Período Intraoperatório , Masculino , New Jersey/epidemiologia , Hemorragia Pós-Operatória/fisiopatologia , Estudos Retrospectivos , Fatores de Risco
11.
PLoS One ; 16(11): e0260560, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34843559

RESUMO

BACKGROUND: Highly accurate detection of intracranial hemorrhages (ICH) on head computed tomography (HCT) scans can prove challenging at high-volume centers. This study aimed to determine the number of additional ICHs detected by an artificial intelligence (AI) algorithm and to evaluate reasons for erroneous results at a level I trauma center with teleradiology services. METHODS: In a retrospective multi-center cohort study, consecutive emergency non-contrast HCT scans were analyzed by a commercially available ICH detection software (AIDOC, Tel Aviv, Israel). Discrepancies between AI analysis and initial radiology report (RR) were reviewed by a blinded neuroradiologist to determine the number of additional ICHs detected and evaluate reasons leading to errors. RESULTS: 4946 HCT (05/2020-09/2020) from 18 hospitals were included in the analysis. 205 reports (4.1%) were classified as hemorrhages by both radiology report and AI. Out of a total of 162 (3.3%) discrepant reports, 62 were confirmed as hemorrhages by the reference neuroradiologist. 33 ICHs were identified exclusively via RRs. The AI algorithm detected an additional 29 instances of ICH, missed 12.4% of ICH and overcalled 1.9%; RRs missed 10.9% of ICHs and overcalled 0.2%. Many of the ICHs missed by the AI algorithm were located in the subarachnoid space (42.4%) and under the calvaria (48.5%). 85% of ICHs missed by RRs occurred outside of regular working-hours. Calcifications (39.3%), beam-hardening artifacts (18%), tumors (15.7%), and blood vessels (7.9%) were the most common reasons for AI overcalls. ICH size, image quality, and primary examiner experience were not found to be significantly associated with likelihood of incorrect AI results. CONCLUSION: Complementing human expertise with AI resulted in a 12.2% increase in ICH detection. The AI algorithm overcalled 1.9% HCT. TRIAL REGISTRATION: German Clinical Trials Register (DRKS-ID: DRKS00023593).


Assuntos
Aprendizado Profundo , Hemorragias Intracranianas/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Diagnóstico por Computador/métodos , Feminino , Humanos , Hemorragias Intracranianas/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
12.
Transfusion ; 61(12): 3303-3308, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34632602

RESUMO

BACKGROUND: Intracranial hemorrhage (ICH) is a rare, but serious complication in patients with acute leukemia. Little is known about why some patients experience serious bleeding, including ICH, while others do not. MATERIALS AND METHODS: Adults between 18 and 80 years old with acute leukemia and ICH between January 1, 2009 and December 31, 2016 were included. Matched controls were identified using the propensity score matching method. Clinical and laboratory characteristics and outcome data were collected to identify variables associated with ICH. RESULTS: Of 2578 patients diagnosed with acute leukemia during the study period, 55 cases and 161 matched controls were included. Patients who experienced ICH were older (62 vs. 55 years, p = .004) and more likely to have diabetes mellitus (p = .04). Patients with ICH had a higher baseline white blood cell count (mean 84.5 ± 115.8 vs. 28.7 ± 58.5 × 109 /L, p = .001), peripheral blast count (61.3 ± 96.5 vs. 21.2 ± 50.8 × 109 /L, p = .004), and a longer PT (16.5 ± 2.06 vs. 15.3 ± 3.2 s, p = .002). Neither the platelet count at diagnosis, the platelet nadir, the number of days with a platelet count of less than 10 × 109 /L, or a diagnosis of platelet refractoriness were associated with ICH. CONCLUSIONS: Older age and more proliferative disease appear to be associated with ICH, whereas thrombocytopenia alone does not. In patients with newly diagnosed acute leukemia, aggressive cytoreduction in those with leukocytosis may help mitigate the risk of ICH.


Assuntos
Leucemia Mieloide Aguda , Trombocitopenia , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Leucemia Mieloide Aguda/complicações , Pessoa de Meia-Idade , Contagem de Plaquetas , Estudos Retrospectivos , Fatores de Risco , Trombocitopenia/complicações , Adulto Jovem
13.
Mol Genet Genomic Med ; 9(10): e1804, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34528764

RESUMO

BACKGROUND: Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies. METHODS: Congenital myopathy presents a diagnostic challenge due to the need for multiple testing modalities to identify the many different genetic etiologies. In this case, the patient remained undiagnosed after whole-exome sequencing (WES), chromosomal microarray, methylation analysis, targeted deletion and duplication studies, and targeted repeat expansion studies. Clinical whole-genome sequencing (WGS) was then pursued as part of a research study to identify a diagnosis. RESULTS: WGS identified compound heterozygous RYR1 intronic variants, RNA sequencing confirmed both variants to be pathogenic causing RYR1-RM in a phenotype of severe congenital hypotonia with respiratory failure from birth, neonatal brain hemorrhage, and congenital heart disease involving transposition of the great arteries. CONCLUSION: While there is an ongoing debate about the clinical superiority of WGS versus WES for patients with a suspected genetic condition, this scenario highlights a weakness of WES as well as the added cost and delay in diagnosis timing with having WGS follow WES or even ending further genetic testing with a negative WES. While knowledge gaps still exist for many intronic variants, transcriptome analysis provides a way of validating the resulting dysfunction caused by these variants and thus allowing for appropriate pathogenicity classification. This is the second published case report of a patient with pathogenic intronic variants in RYR1-RM, with clinical RNA testing confirming variant pathogenicity and therefore the diagnosis suggesting that for some patients careful analysis of a patient's genome and transcriptome are required for a complete genetic evaluation. The diagnostic odyssey experienced by this patient highlights the importance of early, rapid WGS.


Assuntos
Heterozigoto , Hemorragias Intracranianas/genética , Íntrons , Mutação , Miotonia Congênita/genética , Insuficiência Respiratória/genética , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Transposição dos Grandes Vasos/genética , Biópsia , Ecocardiografia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Recém-Nascido , Hemorragias Intracranianas/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Miotonia Congênita/diagnóstico , Insuficiência Respiratória/diagnóstico , Transposição dos Grandes Vasos/diagnóstico , Sequenciamento Completo do Genoma
14.
Blood Adv ; 5(23): 4910-4921, 2021 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-34448835

RESUMO

Intracranial hemorrhage (ICH) is a rare but fatal central nervous system complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT). However, factors that are predictive of early mortality in patients who develop ICH after undergoing allo-HSCT have not been systemically investigated. From January 2008 to June 2020, a total of 70 allo-HSCT patients with an ICH diagnosis formed the derivation cohort. Forty-one allo-HSCT patients with an ICH diagnosis were collected from 12 other medical centers during the same period, and they comprised the external validation cohort. These 2 cohorts were used to develop and validate a grading scale that enables the prediction of 30-day mortality from ICH in all-HSCT patients. Four predictors (lactate dehydrogenase level, albumin level, white blood cell count, and disease status) were retained in the multivariable logistic regression model, and a simplified grading scale (termed the LAWS score) was developed. The LAWS score was adequately calibrated (Hosmer-Lemeshow test, P > .05) in both cohorts. It had good discrimination power in both the derivation cohort (C-statistic, 0.859; 95% confidence interval, 0.776-0.945) and the external validation cohort (C-statistic, 0.795; 95% confidence interval, 0.645-0.945). The LAWS score is the first scoring system capable of predicting 30-day mortality from ICH in allo-HSCT patients. It showed good performance in identifying allo-HSCT patients at increased risk of early mortality after ICH diagnosis. We anticipate that it would help risk stratify allo-HSCT patients with ICH and facilitate future studies on developing individualized and novel interventions for patients within different LAWS risk groups.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Fatores de Risco
15.
Sci Rep ; 11(1): 11634, 2021 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-34079015

RESUMO

To date, very few studies focused their attention on efficacy and safety of recanalisation therapy in acute ischemic stroke (AIS) patients with cancer, reporting conflicting results. We retrospectively analysed data from our database of consecutive patients admitted to the Udine University Hospital with AIS that were treated with recanalisation therapy, i.e. intravenous thrombolysis (IVT), mechanical thrombectomy (MT), and bridging therapy, from January 2015 to December 2019. We compared 3-month dependency, 3-month mortality, and symptomatic intracranial haemorrhage (SICH) occurrence of patients with active cancer (AC) and remote cancer (RC) with that of patients without cancer (WC) undergoing recanalisation therapy for AIS. Patients were followed up for 3 months. Among the 613 AIS patients included in the study, 79 patients (12.9%) had either AC (n = 46; 7.5%) or RC (n = 33; 5.4%). Although AC patients, when treated with IVT, had a significantly increased risk of 3-month mortality [odds ratio (OR) 6.97, 95% confidence interval (CI) 2.42-20.07, p = 0.001] than WC patients, stroke-related deaths did not differ between AC and WC patients (30% vs. 28.8%, p = 0.939). There were no significant differences between AC and WC patients, when treated with MT ± IVT, regarding 3-month dependency, 3-month mortality and SICH. Functional independence, mortality, and SICH were similar between RC and WC patients. In conclusion, recanalisation therapy might be used in AIS patients with nonmetastatic AC and with RC. Further studies are needed to explore the outcome of AIS patients with metastatic cancer undergoing recanalisation therapy.


Assuntos
AVC Isquêmico/terapia , Trombólise Mecânica/métodos , Neoplasias/terapia , Trombectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Pressão Sanguínea/fisiologia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/mortalidade , Hemorragias Intracranianas/patologia , AVC Isquêmico/complicações , AVC Isquêmico/mortalidade , AVC Isquêmico/patologia , Masculino , Trombólise Mecânica/efeitos adversos , Neoplasias/complicações , Neoplasias/mortalidade , Neoplasias/patologia , Estudos Retrospectivos , Análise de Sobrevida , Trombectomia/efeitos adversos , Resultado do Tratamento
16.
J Cereb Blood Flow Metab ; 41(12): 3141-3156, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34162280

RESUMO

Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase (MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.


Assuntos
Malformações Arteriovenosas Intracranianas , Hemorragias Intracranianas , Sistema de Sinalização das MAP Quinases/genética , Mutação , Proteínas Proto-Oncogênicas p21(ras) , Animais , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/genética , Malformações Arteriovenosas Intracranianas/metabolismo , Malformações Arteriovenosas Intracranianas/terapia , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/genética , Hemorragias Intracranianas/metabolismo , Hemorragias Intracranianas/terapia , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas p21(ras)/metabolismo
17.
Isr Med Assoc J ; 23(6): 359-363, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34155849

RESUMO

BACKGROUND: Recommendations for a head computed tomography (CT) scan in elderly patients without a loss of consciousness after a traumatic brain injury and without neurological findings on admission and who are not taking oral anticoagulant therapy, are discordant. OBJECTIVES: To determine variables associated with intracranial hemorrhage (ICH) and the need for neurosurgery in elderly patients after low velocity head trauma. METHODS: In a regional hospital, we retrospectively selected 206 consecutive patients aged ≥ 65 years with head CT scans ordered in the emergency department because of low velocity head trauma. Outcome variables were an ICH and neurological surgery. Independent variables included age, sex, disability, neurological findings, facial fractures, mental status, headache, head sutures, loss of consciousness, and anticoagulation therapy. RESULTS: Fourteen patients presented with ICH (6.8%, 3.8-11.1%) and three (1.5%, 0.3-4.2%) with a neurosurgical procedure. One patient with a coma (0.5, 0.0-2.7) died 2 hours after presentation. All patients who required surgery or died had neurological findings. Reducing head CT scans by 97.1% (93.8-98.9%) would not have missed any patient with possible surgical utility. Twelve of the 14 patients (85.7%) with an ICH had neurological findings, post-trauma loss of consciousness or a facial fracture were not present in 83.5% (95% confidence interval 77.7-88.3) of the cohort. CONCLUSIONS: None of our patients with neurological findings required neurosurgery. Careful palpation of the facial bones to identify facial fractures might aid in the decision whether to perform a head CT scan.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Lesões Encefálicas Traumáticas , Traumatismos Craniocerebrais , Ossos Faciais/lesões , Tomografia Computadorizada por Raios X , Idoso , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/etiologia , Lesões Encefálicas Traumáticas/fisiopatologia , Traumatismos Craniocerebrais/diagnóstico , Traumatismos Craniocerebrais/epidemiologia , Traumatismos Craniocerebrais/etiologia , Traumatismos Craniocerebrais/cirurgia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Traumatismos Faciais/diagnóstico , Feminino , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Hemorragias Intracranianas/fisiopatologia , Israel/epidemiologia , Masculino , Exame Neurológico/métodos , Procedimentos Neurocirúrgicos/métodos , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Utilização de Procedimentos e Técnicas/normas , Utilização de Procedimentos e Técnicas/estatística & dados numéricos , Estudos Retrospectivos , Medição de Risco/métodos , Fatores de Risco , Tomografia Computadorizada por Raios X/métodos , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Inconsciência/diagnóstico , Inconsciência/etiologia
18.
BMC Infect Dis ; 21(1): 364, 2021 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-33865326

RESUMO

BACKGROUND: Parvimonas micra (P. micra) is a gram-positive anaerobic coccus that is detected widely on the skin, in the oral mucosa and in the gastrointestinal tract. In certain circumstances, P. micra can cause abdominal abscesses, bacteraemia and other infections. To the best of our knowledge, there have been no case reports describing the biological characteristics of P. micra-related pneumonia. These bacteria do not always multiply in an aerobic organ, such as the lung, and they could be easily overlooked because of the clinical mindset. CASE PRESENTATION: A 35-year-old pregnant woman was admitted to the emergency department 4 weeks prior to her due date who was exhibiting 5 points on the Glasgow coma scale. A computed tomography (CT) scan showed a massive haemorrhage in her left basal ganglia. She underwent a caesarean section and brain surgery before being admitted to the ICU. She soon developed severe pneumonia and hypoxemia. Given that multiple sputum cultures were negative, the patient's bronchoalveolar lavage fluid was submitted for next-generation sequencing (NGS) to determine the pathogen responsible for the pneumonia; as a result, P. micra was determined to be the causative pathogen. Accordingly the antibiotic therapy was altered and the pneumonia improved. CONCLUSION: In this case, we demonstrated severe pneumonia caused by the anaerobic organism P. micra, and the patient benefited from receiving the correct antibiotic. NGS was used as a method of quick diagnosis when sputum culture failed to distinguish the pathogen.


Assuntos
Firmicutes , Infecções por Bactérias Gram-Positivas/complicações , Pneumonia Bacteriana/microbiologia , Complicações Infecciosas na Gravidez , Adulto , Antibacterianos/uso terapêutico , Cesárea , Coma/diagnóstico , Coma/microbiologia , Coma/cirurgia , Feminino , Firmicutes/isolamento & purificação , Firmicutes/patogenicidade , Infecções por Bactérias Gram-Positivas/diagnóstico , Infecções por Bactérias Gram-Positivas/microbiologia , Infecções por Bactérias Gram-Positivas/cirurgia , Humanos , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/microbiologia , Hemorragias Intracranianas/cirurgia , Pneumonia Bacteriana/diagnóstico , Pneumonia Bacteriana/patologia , Pneumonia Bacteriana/cirurgia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/microbiologia , Terceiro Trimestre da Gravidez , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X
19.
Mol Med Rep ; 23(4)2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33649782

RESUMO

The present study aimed to investigate the function of the single nucleotide polymorphism (SNP) rs41291957 in the prognosis of intracerebral hemorrhage (ICH). In addition, the molecular mechanisms underlying the role of microRNA (miR)­143, Toll­like receptor 2 (TLR2) and interleukin­16 (IL­16) were studied in patients with ICH that carried different alleles in the locus of the rs41291957 SNP. Kaplan­Meier survival curves were calculated for 182 patients with ICH, genotyped as CC, presenting a cytosine in both chromosome, CT, presenting both variants, and TT, presents a thymine in both chromosomes. In addition, the possible regulatory relationships between miR­143 and TLR2/IL­16 were studied using computational analysis, luciferase assays and western blot assay. In addition, the inflammatory profiles of cerebrospinal fluid (CSF) and serum samples collected from the subjects were compared. The patients genotyped as TT presented the lowest survival rate, while patients genotyped as CC presented the highest survival rate. TLR2 mRNA was identified as a potential target of miR­143, while IL­16 showed no direct interaction with miR­143. The above regulatory relationships were further investigated using cells transfected with miR­143 precursor or TLR2 small interfering RNA. In addition, the expression levels of inflammatory factors, such as tumor necrosis factor α, interferon, IL­6, IL­10 and NF­L­6, were highest in the CSF/serum samples collected from patients genotyped as TT and lowest in patients genotyped as CC. By contrast, the expression levels of miR­143 showed an opposite trend in the expression of the above inflammatory factors. The rs41291957 SNP, located in the promoter region of miR­143, reduced the expression of miR­143 and upregulated the expression of the pro­inflammatory factor TLR2, eventually leading to a poorer prognosis in patients with ICH.


Assuntos
Biomarcadores/metabolismo , Hemorragias Intracranianas/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Adulto , Idoso , Sequência de Bases , Células Cultivadas , Feminino , Regulação da Expressão Gênica , Genótipo , Humanos , Interleucina-16/genética , Hemorragias Intracranianas/diagnóstico , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Prognóstico , Homologia de Sequência do Ácido Nucleico , Células THP-1 , Receptor 2 Toll-Like/genética
20.
Sud Med Ekspert ; 64(1): 51-56, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33511836

RESUMO

A review of the literature on intracerebral hemorrhages is given. The purpose of the work is to systematize morphological characters that make it possible to differentiate intracranial hemorrhages of various origins. A number of features of hemorrhagic strokes characteristic of cerebrovascular diseases and other nosologies are presented. The analysis found that the differential diagnosis of hemorrhagic strokes in cerebrovascular diseases should be carried out with systemic, oncological, infectious diseases, vasculitis, thrombohemorrhagic syndrome, traumatic brain injury, as well as other diseases and pathological conditions that are complicated by acute disorders of the cerebral circulation of hemorrhages.


Assuntos
Transtornos Cerebrovasculares , Acidente Vascular Cerebral Hemorrágico , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etiologia , Circulação Cerebrovascular , Transtornos Cerebrovasculares/diagnóstico , Humanos , Hemorragias Intracranianas/diagnóstico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA