Deficiencia congénita de factor VII / Congenital factor VII deficiency

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.

Características de la trombosis venosa cerebral en pacientes de dos hospitales universitarios de Colombia en el período 2018-2020 / Characteristics of cerebral venous thrombosis in patients from two university hospitals in Colombia between 2018-2020

Introducción. La trombosis venosa cerebral es una causa infrecuente de enfermedad cerebrovascular que viene en aumento a nivel mundial. A pesar de ello, actualmente, en Colombia no se cuenta con estudios suficientes que nos permitan caracterizar epidemiológicamente la enfermedad en nuestra población para identificar los factores de riesgo y las complicaciones más frecuentes en nuestro medio. Objetivo. Describir las características clínicas, demográficas y radiológicas, y los factores de riesgo de una serie de pacientes con trombosis venosa cerebral de dos hospitales de Colombia. Materiales y métodos. Es un estudio descriptivo retrospectivo de pacientes hospitalizados, atendidos en el servicio de neurología de dos hospitales de Bogotá desde diciembre de 2018 hasta diciembre del 2020. Resultados. Se incluyeron 33 pacientes. Las frecuencias más altas correspondieron a mujeres en edad fértil, en puerperio (n=7; 33,3 %) y pacientes con patologías autoinmunes (n=10; 30,3 %). El síntoma inicial más común fue la cefalea (n=31; 93,9 %), seguido de focalización neurológica (n=9; 27,2%) y crisis epiléptica (n=8; 24,2 %). El 51 % (n=17) de los pacientes tuvo un examen físico normal. El infarto venoso cerebral se presentó en el 21,1 % (n=7), la hemorragia subaracnoidea en el 12,1 % (n=4) y el hematoma intraparenquimatoso en el 9 % (n=3) del total de pacientes. El 60,6 % (n=20) quedó con nivel independiente en la escala funcional de Barthel. Ningún paciente falleció. Conclusiones. Se encontraron características sociodemográficas, clínicas y radiológicas similares a lo reportado en la literatura mundial. Con respecto a las diferencias, se encontró en nuestro estudio compromiso de la circulación venosa cerebral profunda en un porcentaje ligeramente mayor a lo descrito, pero sin aumento de complicaciones, ni mortalidad.

Introduction. Cerebral venous thrombosis is an uncommon cause of cerebrovascular disease, which has been increasing worldwide. In Colombia, there are not enough recent studies that allow us to determine epidemiological characteristics of the disease in our population to identify more frequent risk factors and complications according to our living conditions. Objective. To describe clinical, demographic, and radiographic characteristics, and risk factors in a cohort of patients with cerebral venous thrombosis attended at two hospitals in Colombia. Materials and methods. Retrospective descriptive study with patients treated in the hospitalization neurology service of two hospitals in Bogotá, Colombia from December 2018 to December 2020. Results. Thirty-three patients were included. There was a higher incidence of cerebral venous thrombosis in women of childbearing age in the puerperium (n=7; 33.3%) and associated with autoimmune diseases (n=10; 30.3%). The most common initial symptom was headache (n=31; 93.9 %), followed by neurological focal signs (n=9; 27.2%) and seizures (n=8; 24.2%). Fifty-one percent (n=17) of the patients had a normal physical examination. Cerebral venous infarction occurred in 21.1 % (n=7), subarachnoid hemorrhage in 12.1 % (n=4), and intraparenchymal hematoma in 9 % (n=3) of all the patients. Sixty-point six percent (n=20) of the patients had a total independent Barthel functional scale. None of those died. Conclusions. We found similar sociodemographic, clinical, and radiography characteristics to those reported in the world literature. Regarding the differences, deep cerebral venous circulation was higher than that described in previous studies but without complications increase or mortality.

Nuevos paradigmas: 12 años de trombólisis sistémica. Unidad ACV, Hospital de Clínicas / New paradigms: 12 years of systemic thrombolysis. Stroke Unit, Clinicas Hospital / Novos paradigmas: 12 anos de trombólise sistêmica. Unidade AVC, Hospital de Clínicas

Introducción: el ACV constituye un problema de salud y la trombólisis sistémica una estrategia de reperfusión con alto nivel de evidencia para su tratamiento. Los reportes nacionales sobre su utilización son escasos. Objetivos: comunicar y analizar los resultados de esta terapia en el Hospital de Clínicas. Establecer predictores de buena evolución, hemorragia intracraneana y mortalidad. Métodos: estudio observacional analítico de los pacientes trombolizados en el Hospital de Clínicas (2010-2021). Resultados: se realizó trombólisis sistémica a 268 pacientes. La mediana del NIHSS al ingreso fue 12 puntos. Un 42% fueron infartos totales de la circulación anterior. La cardioembolia constituyó la etiopatogenia más frecuente. El 59,3% de los pacientes fueron externalizados con independencia funcional y 55,2% con déficit neurológico mínimo. Las tasas de hemorragia intracraneana sintomática y mortalidad fueron 7,1% y 18,7% respectivamente. El 57% de los pacientes se trataron con tiempo puerta aguja ≤60 minutos. El porcentaje de trombólisis en el total de ACV fue 18,9%. La edad, NIHSS al ingreso e internación en unidad de ACV se comportaron como variables importantes para predecir buena evolución, hemorragia intracraneana y muerte. Discusión y conclusiones: se comunicó la mayor casuística nacional sobre el tema. Los parámetros de efectividad y seguridad del tratamiento fueron comparables a los reportados internacionalmente. Se destacaron los buenos tiempos puerta aguja y tasa trombólisis sobre ACV totales como indicadores satisfactorios de calidad asistencial. La internación en unidad de ACV se comportó como un factor predictor de independencia funcional y protector frente a mortalidad hospitalaria.

Introduction: Strokes are a health problem and systemic thrombolysis constitutes a reperfusion strategy backed up by significant evidence on its positive therapeutic impact. National reports on its use are scarce. Objectives: To report and analyze results obtained with this therapeutic approach at the Clinicas Hospital. To establish predictive factors for a good evolution, intracranial hemorrhage and mortality. Method: Observational, analytical study of thrombolysed patients at Clinicas Hospital (2010-2021). Results: Systemic thrombolysis was performed in 268 patients. Average NIHSS score was 12 points when admitted to hospital.42 % of cases were total anterior circulation infarct (TACI). Cardioembolic ischaemmic stroke was the most frequent etiopahogenesis. 59.3% of patients were discharged with functional independence and 55.2% had minimal neurologic deficit. Symptomatic intracranial hemorrhage and mortality rates were 7.1% and 18.7% respectively. 57% of patients were assisted within ≤60 minutes they showed up at the ER. Thrombolysis percentage in total number of strokes was 18.9%. Age, NIHSS score upon arrival to hospital and admission to the stroke unit were significant variables to predict a good evolution, intracranial hemorrhage and death. Discussion and conclusions: The large number of cases in the country was reported. Effectiveness and safety parameters for this treatment were comparable to those reported internationally. The good door-to-needle time and thrombolysis rate versus total number of strokes stood out as satisfactory indicators of healthcare quality. Admission to the stroke unit behaved as a predictive factor of functional independence and it protected patients from hospital mortality.

Introdução: o AVC é um problema de saúde sendo a trombólise sistêmica uma estratégia de reperfusão com alto nível de evidência para seu tratamento. Os dados nacionais sobre seu uso são escassos. Objetivos: comunicar e analisar os resultados desta terapia no Hospital de Clínicas. Estabelecer preditores de boa evolução, hemorragia intracraniana e mortalidade. Métodos: estudo observacional analítico de pacientes trombolisados no Hospital de Clínicas (2010-2021). Resultados: a trombólise sistêmica foi realizada em 268 pacientes. A mediana do índice NIHSS na admissão foi de 12 pontos. 42% eram infartos totais da circulação anterior. A cardioembolia foi a etiopatogenia mais frequente. 59,3% dos pacientes tiveram alta da unidade com independência funcional e 55,2% com déficit neurológico mínimo. As taxas de hemorragia intracraniana sintomática e mortalidade foram de 7,1% e 18,7%, respectivamente. 57% dos pacientes foram tratados com tempo porta-agulha ≤60 minutos. A porcentagem de trombólise no AVC total foi de 18,9%. Idade, NIHSS na admissão e internação na unidade de AVC se comportaram como variáveis importantes para prever boa evolução, hemorragia intracraniana e óbito. Discussão e conclusões: este trabajo inclui a maior casuística nacional sobre o tema. Os parâmetros de eficácia e segurança do tratamento foram comparáveis aos descritos na bibliografia internacional. Foram destacados como indicadores satisfatórios da qualidade do atendimento os bons tempos porta-agulha e taxa de trombólise em relação ao AVC total. A internação em unidade de AVC comportou-se como preditor de independência funcional e protetor contra a mortalidade hospitalar.

Fatal intracranial bleedings in a viper bite: A case report / 中华创伤杂志(英文版)

Viper bite envenomation represents a significant occupational hazard among agricultural workers in India. The viper bite envenomation is usually suspected when a patient presents with predominant local symptoms at the bitten site, including pain, swelling, and necrosis. Further, systemic findings such as diffuse intravascular coagulation, hypotension, and shock may alert physicians of viper bite envenomation rather than a neurotoxic snake bite. However, cerebral complications are rare in viper bites but may potentially fatal. Central nervous system involvement in a viper bite is either due to neurotoxins or hemorrhagins present in the venom, which may induce cerebral thrombosis, ischemia, infarction, and hemorrhage. Here we present a case of a previously healthy adult male who succumbed to extensive subarachnoid, intracerebral, and intraventricular hemorrhages involving bilateral cerebral hemispheres following viper snake bite envenomation. This report highlights the importance of anticipating cerebral complications in viper bite envenomation, a rare occurrence. It also emphasizes the need for early antisnake venom administration to prevent and control systemic envenomation and its complications.

Disease burden based on gender and age and risk factors for stroke in China, 2019 / 中南大学学报(医学版)

OBJECTIVES@#Stroke has become the leading cause of death and disability among adults in China. This study aims to analyze the disease burden based on gender and age and the risk factors for stroke subtypes in China 2019, and to provide reference for targeted stroke prevention and control.@*METHODS@#Based on 2019 data of the Global Burden of Disease (GBD), the gender and age in patients with different stroke subtypes (ischemic stroke, intracranial hemorrhage, subarachnoid hemorrhage) in China 2019 was described by using disability-adjusted life years (DALY), and attributable burden of related risk factors was analyzed.@*RESULTS@#In 2019, the burden of intracranial hemorrhage was the heaviest one in China, resulting in 22.210 6 million person years of DALY, following by ischemic stroke and subarachnoid hemorrhage, resulting in 21.393 9 and 2.344 7 million person years of DALY, respectively. Among them, except the 0-14 age group, the disease burden of different subtypes of stroke in men was higher than that in women. The disease burden of ischemic stroke was increased with age in both men and women, with the heaviest disease burden in ≥70 years group. The disease burden of intracranial hemorrhage and subarachnoid hemorrhage was the heaviest in males aged 50-69 years old, and in females aged ≥70 years and 50-69 years, respectively. Metabolic factors were the main risk factors in all ages of different stroke subtypes, and the most important risk factor was high systolic blood pressure. Other risk factors were different between men and women. Smoking, high body mass index, high low-density lipoprotein, and outdoor particulate matter pollution were the main risk factors for stroke in men, while high body mass index, outdoor particulate matter pollution, and high fasting blood glucose were the main risk factors of stroke in women. The main risk were different among different age groups.@*CONCLUSIONS@#The burden and attributable risk factors for different stroke subtypes are discrepancy in different gender and age groups. Targeted interventions should be conducted in the future to reduce the burden of stroke.

Causes of death and mortality trends related to hemophilia in Brazil, 1999 to 2016

ABSTRACT Introduction Multiple cause of death methodology enhances mortality studies beyond the traditional underlying cause of death approach. Aim: This study aims to describe causes of death and mortality issues related to haemophilia with the use of multiple-cause-of-death methodology. Methods: Annual male haemophilia mortality data was extracted from the public multiple-cause-of-death databases of the Mortality Information System, searching deaths included in rubrics D66 "hereditary factor VIII deficiency" (haemophilia A), and D67 "hereditary factor IX deficiency" (Haemophilia B) of the International Classification of Diseases, Tenth Revision, and processed by the Multiple Cause Tabulator. Results: In Brazil, from 1999 to 2016, a total of 927 male deaths related to haemophilia occurred during the 18 year period, of which 418 (45,1 %) as underlying cause, and 509 (54,9 %) as associated cause of death. The leading associated cause of 418 deaths of haemophilia as underlying cause was hemorrhage (52.6%), half of which intracranial hemorrhage. Infectious and parasitic diseases accounted for 40,5% as the underlying causes of 509 deaths where haemophilia was an associated cause, where human immunodeficiency virus disease prevailed, however falling from 37,0% to 19.7%, and viral hepatitis increased from 6.0% to 7.9%; diseases of the circulatory system, increased from 13.5% to 18.4%, including intracranial hemorrhage from 5.7% to 7.0%, and neoplasms, from 8,5% to 13.2%, respectively from 1999-2007 to 2008-2016, followed as main underlying causes. Conclusion: Hemorrhages, mainly intracranial hemorrhage, human immunodeficiency virus disease, and viral hepatitis are the chief prevention goals aiming at the control of haemophilia mortality.

Malformaciones vasculares cerebrales de alto flujo en pediatría: experiencia en un hospital pediátrico de alta complejidad / High-flow vascular malformations of the brain in pediatrics: Experience in a tertiary care children's hospital

Introducción. Las malformaciones vasculares cerebrales de alto flujo son poco comunes en la edad pediátrica. El objetivo del trabajo es diferenciar y agrupar estas enfermedades según edad de debut, manifestaciones clínicas y angioarquitectura.Población y método. Se realizó un estudio retrospectivo y observacional. Se analizaron las historias clínicas, los estudios por imágenes y los protocolos de procedimientos de pacientes del Hospital J. P. Garrahan con diagnóstico de malformaciones vasculares cerebrales desde enero de 2010 hasta enero de 2020.Resultados. Ciento ochenta y tres pacientes cumplieron los criterios de inclusión. Se identificaron 131 pacientes con malformaciones arteriovenosas con nido (MAV) y 52 con fístulas directas (sin nido), entre los que se hallaron 19 malformaciones aneurismáticas de vena de Galeno, 23 fístulas piales y 10 fístulas durales. La edad promedio fue de 105 meses para las MAV, 1,7 meses para las malformaciones aneurismáticas de vena de Galeno, 60,5 meses para fístulas piales y 41 meses para fístulas durales.Conclusión. Según su angioarquitectura, las malformaciones vasculares cerebrales de alto flujo tuvieron nido (MAV) o fueron fístulas directas (malformaciones aneurismáticas de vena de Galeno, fístulas piales y fístulas durales). Las MAV se manifestaron a partir de la primera infancia, sobre todo, por hemorragia intracraneana. Las fístulas directas se expresaron en la primera etapa de la vida, frecuentemente, con insuficiencia cardíaca.

Introduction. High-flow vascular malformations of the brain are uncommon in pediatrics. The objective of this study is to establish the differences among these pathologies and group them by age at onset, clinical manifestations, and angioarchitecture.Population and method. This was a retrospective and observational study. The medical records, imaging studies, and procedure protocols of patients seen at Hospital J. P. Garrahan diagnosed with vascular malformations of the brain between January 2010 and January 2020 were analyzed.Results. A total of 183 patients met the inclusion criteria. It was possible to identify 131 patients with arteriovenous malformations with a nidus (AVMs) and 52 with direct fistulas (without a nidus), including 19 vein of Galen aneurysmal malformations, 23 pial fistulas, and 10 dural fistulas. The average age of patients was 105 months for AVMs, 1.7 months for vein of Galen aneurysmal malformations, 60.5 months for pial fistulas, and 41 months for dural fistulas.Conclusion. Based on their angioarchitecture, high-flow vascular malformations of the brain presented a nidus (AVMs) or direct fistulas (vein of Galen aneurysmal malformations, pial fistulas, and dural fistulas). AVMs were observed in early childhood, especially due to intracranial hemorrhage. Direct fistulas occurred in the first stage of life, commonly with heart failure.

Hemorragia encefálica por angiopatía amiloidea / Amyloid angiopathy brain hemorrhage

Amyloid angiopathy (AA) is a selective deposition of amyloid in the walls of the brain vessels. It is a form of sporadic and localized amyloidosis, constituted by the Aβ4 protein, the same of Alzheimer's disease senile plaques. The most consistent clinical effect of AA is spontaneous brain hemorrhage (BH). It is the second most common cause of BH after arterial hypertension (HT). Other clinical manifestations are cognitive impairment and transient focal neurological episodes. AA BH is characteristically localized in the cerebral cortex and subcortical white matter (lobar hemorrhage), consistent with the preferential deposit of amyloid in the walls of leptomeningeal and intracortical small cerebral vessels. Other types of AA hemorrhagic complications are microbleeds (MB), cerebral convexity subarachnoid hemorrhage (cSAH) and superficial hemosiderosis (cSS). The diagnosis of AA BH is based on the Boston criteria. Using these criteria, several non-hemorrhagic biomarkers of AA have been identified that can be useful in its diagnosis. The principal AA BH risk factor is age, followed by cSS, MB, Apolipoprotein E gen ε2 and ε4 alleles, HT and the use of antithrombotics. This condition has a high recurrence rate that shares the same risk factors. There is no specific treatment for AA BH. It has a better prognosis than HT BH during the acute period, but worse on the long term, due to its high recurrence rate and cognitive impairment.

Risk factors for intracranial hemorrhage and mortality in adult patients with severe respiratory failure managed using veno-venous extracorporeal membrane oxygenation / 中华医学杂志(英文版)

BACKGROUND@#Intracerebral hemorrhage (ICH) is one of the most severe complications during veno-venous extracorporeal membrane oxygenation (VV-ECMO). This study aimed to determine the risk factors for ICH and mortality in such patients.@*METHODS@#We analyzed the clinical data of 77 patients who received VV-ECMO due to severe respiratory failure from July 2013 to May 2019 at China-Japan Friendship Hospital. Demographical data, laboratory indices, imaging characteristics, and other clinical information were collected. Multivariable logistic regression analyses were performed to identify risk factors for ICH and mortality.@*RESULTS@#Of 77 patients, 11 (14.3%) suffered from ICH, and 36 (46.8%) survived. The survival rate was significantly lower (18.2% [2/11] vs. 51.5% [34/66], P = 0.040) in patients with ICH than in those without ICH. Multivariable analysis revealed that factors independently associated with ICH were diabetes mellitus (adjusted odds ratio [aOR]: 12.848, 95% confidence interval [CI]: 1.129-146.188, P = 0.040) and minimum fibrinogen during ECMO (aOR: 2.557, 95% CI: 1.244-5.252, P = 0.011). Multivariable analysis showed that factors independently associated with mortality were acute hepatic failure during ECMO (aOR: 9.205, 95% CI: 1.375-61.604, P = 0.022), CO2 retention before ECMO (aOR: 7.602, 95% CI: 1.514-38.188, P = 0.014), and minimum platelet concentration during ECMO (aOR: 0.130, 95% CI: 0.029-0.577, P = 0.007).@*CONCLUSIONS@#Diabetes mellitus and minimum fibrinogen concentration during ECMO are risk factors for ICH in patients with severe respiratory failure managed using VV-ECMO. This indicated that anticoagulants use and nervous system monitoring should be performed more carefully in patients with diabetes when treated with VV-ECMO due to severe respiratory failure.

Hemorragia subaracnoidea posterior a descompresión Lumbar mínimamente invasiva. Presentación de un caso y revisión de la literatura / Subarachnoid hemorrhage after minimally invasive lumbar decompression. Case report and literature review

Introducción: Las lesiones durales son complicaciones frecuentes en la cirugía de columna. La fuga de liquidocefalorraquideo (LCR) puede originar hemorragia en todos los compartimientos del cerebro. La mayoría ocurre en venas ubicadas en región cerebelosa.Material y método: Se presenta un caso de hemorragia subaracnoidea posterior a una descompresión lumbar mínimamente invasiva asociada a desgarro dural. Resultados: Evoluciona en el postoperatorio con síntomas neurológicos de cefaleas y trastornos del sensorio por lo que se decide evaluarlo con estudios por imágenes vasculares cerebrales identificándose sangrado subaracnoideo.Discusión: El sitio más frecuente de hemorragia intracraneal posterior a una cirugía de columna es el cerebelo. El mecanismo de acción de este tipo de sangrados es desconocido y controversial, hay algunos reportes que sugieren que se trataría de un sangrado venoso. El síntoma más característico de este síndrome es la cefalea. Aunque se desconoce la etiología exacta, se postula que la pérdida de volumen de LCR causa una caída en la presión intracraneal, lo que lleva a un agrandamiento de los senos venosos durales que predisponen al paciente a un hematoma subdural espontáneoConclusión: La fuga de LCR, las alteraciones asociadas al edema cerebral en la hipotensión cerebral podría ser llave del mecanismo que desencadena una hemorragia subaracnoidea.

compartments of the brain. Most occur in veins located in the cerebellar region.Material and method: A case of subarachnoid hemorrhage after a minimally invasive lumbar decompression associated with dural tear is presented.Results: It evolves in the postoperative period with neurological symptoms of headaches and sensory disorders, so it is decided to evaluate it with studies by cerebral vascular images identifying subarachnoid bleeding.Discussion: The most frequent site of intracranial hemorrhage after spinal surgery is the cerebellum. The mechanism of action of this type of bleeding is unknown and controversial, there are some reports that suggest that it would be a venous bleeding. The most characteristic symptom of this syndrome is headache. Although the exact etiology is unknown, it is postulated that the loss of CSF volume causes a drop in intracranial pressure, which leads to an enlargement of the dural venous sinuses that predispose the patient to a spontaneous subdural hematomaConclusion: CSF leakage, alterations associated with cerebral edema in cerebral hypotension could be key to the mechanism that triggers a subarachnoid hemorrhage.

Hemorragia intracraniana en un feto con trisomia 21 y rabdomiomas cardiacos: diagnostico diferencial de esclerosis tuberosa: estudio antenatal a propósito de un caso / Intracranian hemorrhage in a fetus with trisomy 21 and cardiac rhabdomyomas: differential diagnosis of tuberous sclerosis: antenatal study regarding a case

INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.

INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.

Comparison on cognitive performance among schoolchildren born prematurely according to the presence of intracranial hemorrhage in the neonatal period / Comparação do desempenho cognitivo entre escolares nascidos prematuros segundo presença de hemorragia intracraniana no período neonatal

Abstract Objectives: to compare the cognitive performance of schoolchildren born prematurely according to the presence of intracranial hemorrhage (ICH) during the neonatal period. Methods: a cross-sectional cohort study of schoolchildren between the ages of 6-8 years old, born prematurely with or without a history of neonatal ICH. Between January and December 2015, some children were followed up at the outpatient clinic of a tertiary hospital and underwent a cognitive evaluation by using the Wechsler Intelligence Scale for Children, Third Edition (WISC-III) and they were divided into two groups: those with no history of ICH (control group) and those with ICH (case group), confirmed by a transfontanelar ultrasound in the prenatal period. Results: 39 schoolchildren were included, 21 cases and 18 controls. There was no difference in gestational age or chronological age at evaluation between the groups. Also there was no significant difference in subtest scores between the groups. Conclusions: WISC-III evaluated the cognitive performance in children, born preterm, aged 6-8 years old, and had neonatal ICH did not differ from those of their peers without a history of ICH. These findings suggest that, in preterm infants, a neonatal diagnosis of ICH may not be associated with cognitive performance at school age and this should be investigated through a longitudinal study.

Resumo Objetivos: comparar o desempenho cognitivo de escolares, nascidos prematuramente, segundo a presença de hemorragia intracraniana (HIC) no período neonatal. Métodos: corte transversal de uma coorte de escolares com idade entre seis e oito anos que nasceram prematuramente e apresentaram ou não HIC, realizado entre janeiro e dezembro de 2015, acompanhados em ambulatório de seguimento de hospital terciário e submetidos à avaliação cognitiva, através da Escala de Inteligência Wechsler para Crianças-3ª edição (WISC-III), que foram divididos em dois grupos: sem HIC (grupo controle - GC) e com HIC (grupo de casos - GH) comprovada através de exame ultrassonográfico transfontanelar no período perinatal. Resultados: foram incluídos 39 escolares, 18 no GC e 21 no GH. Não se observou dife-rença entre os grupos quanto à idade gestacional e idade cronológica na qual eles foram avaliados. Não foi encontrada diferença estatística entre os grupos estudados nos valores dos subtestes. Conclusões: o desempenho cognitivo de crianças nascidas pré-termo que tiveram HIC não difere daquele que não a apresentaram quando avaliadas pelo WISC-III na faixa etária de seis a oito anos. Sugere-se que o diagnóstico neonatal de HIC pode não estar associado ao desempenho cognitivo de prematuros, na idade escolar, o que deverá ser investigado através de estudo longitudinal.

Procalcitonin levels among patients with fever secondary to severe intracerebral infection. A cross-sectional study

ABSTRACT BACKGROUND: Making the differential diagnosis between central fever and infectious fever is critically important among intracerebral hemorrhage patients followed up in intensive care units (ICUs). Serum procalcitonin (PCT) has been found to be a promising biomarker for the initial diagnosis of infection, even before culturing results. OBJECTIVES: To investigate the relationship between PCT and both fever etiologies and C-reactive protein (CRP) levels among critically ill patients with suspected intracerebral hemorrhage. DESIGN AND SETTING: Cross-sectional study in a public university hospital in Elazig, Turkey. METHODS: ICU patients diagnosed with intracerebral hemorrhage and normal procalcitonin levels were included in this study. From clinical assessments and cultures, they were classified as presenting either infectious or central fever. The sensitivity and specificity of PCT and CRP for predicting infection were calculated using a receiver operating characteristic (ROC) curve. RESULTS: There were 98 ICU patients with diagnoses of intracerebral hemorrhage. The median (interquartile range) PCT levels of patients with infectious and central fever were 4 (0.9-11) and 0.1 (0.1-0.4) ng/ml, respectively, with a statistically significant intergroup difference (P < 0.001). The areas under the ROC curve for predicting infectious or central fever PCT and CRP were 0.958 (P < 0.001) and 0.816 (P < 0.001), respectively. A statistically significant positive correlation was detected between PCT and CRP levels in patients with infectious fever (rho: 0.461; P = 0.003), but not in patients with central fever. CONCLUSIONS: PCT can possibly be used as a biomarker to differentiate between infectious and central fever among ICU patients.

Bleeding risk of small intracranial aneurysms in a population treated in a reference center / Risco de sangramento de aneurismas intracranianos pequenos em uma população tratada em um centro de referência

ABSTRACT Large multicenter studies have shown that small intracranial aneurysms are associated with a minimal risk of bleeding. Nevertheless, other large series have shown that most ruptured aneurysms are, in fact, the smaller ones. In the present study, we questioned whether small aneurysms are indeed not dangerous. Methods: We enrolled 290 patients with newly-diagnosed aneurysms at our institution over a six-year period (43.7% ruptured). We performed multivariate analyses addressing epidemiological issues, cardiovascular diseases, and three angiographic parameters (largest aneurysm diameter, neck diameter and diameter of the nutrition vessel). Risk estimates were calculated using a logistic regression model. Aneurysm size parameters were stratified according to receiver operating characteristic (ROC) curves. Finally, we calculated odds ratios for rupture based on the ROC analysis. Results: The mean largest diameter for the ruptured versus unruptured groups was 13.3 ± 1.7 mm versus 22.2 ± 2.2 mm (p < 0.001). Multivariate analysis revealed a positive correlation between rupture and arterial hypertension (p < 0.001) and an inverse correlation with all three angiographic measurements (all p < 0.01). Aneurysms from the anterior cerebral artery bled more often (p < 0.05). According to the ROC curves, at the largest diameter of 15 mm, the sensitivity and specificity to predict rupture were 83% and 36%, respectively. Based on this stratification, we calculated the chance of rupture for aneurysms smaller than 15 mm as 46%, which dropped to 25% for larger aneurysms. Conclusion: In the population studied at our institution, small aneurysms were more prone to bleeding. Therefore, the need for intervention for small aneurysms should not be overlooked.

RESUMO Grandes estudos multicêntricos demostram que aneurismas intracranianos pequenos são associados a risco de sangramento mínimo. Outras grandes séries têm evidenciado que aneurismas rotos são em sua maioria os pequenos. Neste estudo questionamos até que ponto os aneurismas pequenos não são perigosos. Métodos: Avaliamos 290 novos casos de aneurismas tratados em nossa instituição durante 6 anos (43,7% rotos). Realizamos análises multivariadas com aspectos epidemiológicos dos pacientes, doenças cardiovasculares e três parâmetros angiográficos: maior diâmetro, diâmetro do colo e diâmetro do vaso nutridor do aneurisma. Estimativas de risco foram calculadas utilizando-se modelo de regressão logística. Parâmetros do tamanho aneurismático foram estratificados de acordo com curvas ROC. Também calculamos a razão de chances (odds ratios) de ruptura baseadas nas análises das curvas ROC. Resultados: O maior diâmetro médio para os grupos de aneurismas rotos e não-rotos foi 13.3 ± 1.7mm e 22.2 ± 2.2 (p < 0.001). Análises multivariadas revelaram uma correlação positiva entre ruptura aneurismática e hipertensão arterial (p < 0.001) e uma correlação inversa entre ruptura e as três medidas angiográficas (p < 0.01). Aneurismas da artéria cerebral anterior foram os que mais sangraram (p < 0.05). Análises das curvas ROC demonstram que no maior diâmetro de 15mm, a sensibilidade e especificidade para se predizer ruptura são de 83% e 36%. Baseando-se nessas estratificações, calculamos uma chance de ruptura para aneurismas menores de 15mm de 46% e de 25% para aneurismas maiores. Conclusão: Na população estudada, aneurismas pequenos são mais propensos a romper. Desta forma, a necessidade de intervenção para aneurismas pequenos não deve ser relevada.

Influence of Anesthesia Type on Outcomes after Endovascular Treatment in Acute Ischemic Stroke: Meta-Analysis / 신경중재치료의학

PURPOSE: To assess clinical and angiographic outcomes after endovascular treatment (EVT) in ischemic stroke patients according to anesthesia types (general anesthesia vs. conscious sedation). MATERIALS AND METHODS: A systematic literature review through an online data base between January 1990 and September 2017 was performed. A fixed effect model was used in cases of <50% heterogeneity. The primary outcomes were good clinical outcome at the 3-month follow-up and successful recanalization. A meta-regression analysis was done to estimate primary outcomes of log odds ratio (OR) on onset-to-puncture time (OTP) differences. Publication bias was determined using Begg’s funnel plot and additional the Trim and Fill method. RESULTS: Sixteen articles including 2,662 patients (general anesthesia, n=1,275; conscious sedation, n=1,387) were included. General anesthesia significantly decreased good outcomes than conscious sedation (OR, 0.564; 95% confidence interval [CI], 0.354–0.899). However, outcomes did not differ significantly in randomized controlled trials (RCTs; OR, 1.101; 95% CI, 0.395–3.071). Anesthesia type was not associated with successful recanalization (OR, 0.985; 95% CI, 0.787–1.233). General anesthesia increased the risk of mortality (OR, 1.532; 95% CI, 1.187–1.976) and pneumonia (OR, 1.613; 95% CI, 1.172–2.221), but not symptomatic intracranial hemorrhage (OR, 1.125; 95% CI, 0.767–1.652). The meta-regression analysis showed no linear relationship between OTP differences and log OR of good outcome (coefficient, 0.0004; P=0.95) or successful recanalization (coefficient, 0.0005; P=0.94), respectively. CONCLUSION: General anesthesia seemed to be associated with adverse clinical outcome after EVT. However, its efficacy was not demonstrated in RCTs. Successful recanalization did not differ according to anesthesia type. Studies using individual patient data based on further RCTs are necessary to elucidate anesthesia effect on procedural and clinical outcomes.

MRI Assessment of Cerebral Small Vessel Disease in Patients with Spontaneous Intracerebral Hemorrhage

PURPOSE: Cerebral small vessel disease (SVD) is known to be associated with ischemic stroke, intracerebral hemorrhage (ICH), and cognitive impairment. In this retrospective observational study, we explored SVD markers on MRI relevant to spontaneous ICH. MATERIALS AND METHODS: The ICH group consisted of 150 consecutive patients with a first primary parenchymal ICH, and the control group consisted of 271 age- and sex-matched individuals who underwent brain MRI in a health care center. We compared cerebral microbleeds (CMBs), white matter hyperintensities (WMHs), enlarged perivascular space (EPVS), and lacunae in the ICH and control groups. RESULTS: A total of 1278 CMB lesions were identified in 121 of the 150 patients in the ICH group (80.6%), while 77 CMB lesions were found in 32 of the 271 individuals in the control group (11.8%). WMH and EPVS were more severe and lacunae were more frequent in the ICH patients than in the control group. When receiver operating characteristic (ROC) curves were plotted, number of CMBs most significantly predicted ICH. All imaging markers were significantly associated with ICH in every age group. The location of CMBs coincided with the location of ICH, and ICH volume correlated with CMB count. CONCLUSION: All MRI markers for SVD were worse in ICH patients than in healthy controls, and these markers were prominent even in young ICH patients. Lacunae, WMH, EPVS, and CMB should be considered as factors related with spontaneous ICH.

Fahr's Disease With Intracerebral Hemorrhage at the Uncommon Location: A Case Report

Fahr's disease (FD) is a rare neurologic disorder characterized by the symmetric and bilateral intracerebral calcification in a patient. We describe the case of a 65-year-old woman who presented with gait disturbance, abnormal mentality, and visual field defect. The result of a brain computerized tomography showed spontaneous intracranial hemorrhage in the right parieto-occipital area, and also showed the incidence of symmetric and bilateral intracerebral calcification. Moreover, laboratory studies indicated characteristic hypoparathyroidism. This brings us to understand that additionally, one of her sons also presented with similar intracerebral calcification, and was subsequently diagnosed with FD. Thus, her case was consistent with that of a patient experiencing FD. The patient had hypertension, which we now know might have caused the intracerebral hemorrhage. However, this patient's brain lesions were in uncommon locations for spontaneous intracerebral hemorrhage, and the lesions were noted as occurring away from the identified heavily calcified areas. Thus, it seemed that the massive calcification of cerebral vessels in the basal ganglia, the most common site of intracerebral hemorrhage, might have prevented a hypertensive intracerebral hemorrhage. Eventually, an intracerebral hemorrhage occurred in an uncommon location in the patient's brain.

Spontaneous Spinal Subdural and Subarachnoid Hemorrhage with Concomitant Intracerebral Hemorrhage: A Case Report / 대한신경손상학회지

Most cases of spinal subdural hematoma are very rare and result from iatrogenic causes, such as coagulopathy or a spinal puncture. Cases of non-traumatic spinal subdural hematoma accompanied by intracranial hemorrhage are even more rare. There are a few reports of spontaneous spinal subdural hematoma with concomitant intracranial subdural or subarachnoid hemorrhage, but not with intracerebral hemorrhage. Especially in our case, the evaluation and diagnosis were delayed because the spontaneous intracerebral hemorrhage accompanying the unilateral spinal subdural and subarachnoid hemorrhages caused hemiplegia. We report a case of spinal subdural and subarachnoid hemorrhage with concomitant intracerebral hemorrhage, for the first time, with a relevant literature review.