RESUMEN
BACKGROUND AND AIM: The gut barrier protects the liver through tight junctions, which are disrupted in liver disease either from dysbiosis, inflammation, or the effects of ingested compounds such as alcohol. Strengthening of the gut barrier may ameliorate liver injury of varying etiologies. Short chain fatty acids (SCFAs) have been shown to improve gut barrier function. This systematic review aims to synthesize all studies that have trialed SCFA supplementation as a therapy for liver disease. METHODS: A systematic review assessing the impact of SCFA supplementation on liver injury and intestinal permeability was conducted. All forms of intervention that specifically increased intestinal SCFA concentration and measured both liver injury and permeability were eligible. Two independent reviewers assessed each study for outcomes, risk of bias, and quality using checklists relevant to the study's methodology. RESULTS: Seventeen studies were identified; two utilized a human model (15 murine). Fifty-eight markers of liver injury were identified, with 26 different measures of permeability. Given the numerous designs, no meta-analysis was possible. SCFA supplements included oral and enteral butyrate, probiotics, and prebiotics. Fourteen studies demonstrated improved permeability. All studies showed a significant amelioration of liver injury. CONCLUSIONS: Short chain fatty acid supplementation to reduce intestinal permeability represents a potential therapy in a variety of liver disease models. A large number of outcome measures were reported however not all are practical in human studies. Future work should evaluate methods to increase luminal SCFA concentrations and the effect of this on gut permeability and liver inflammation in people with liver disease.
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Enfermedades del Sistema Digestivo , Microbioma Gastrointestinal , Hepatopatías , Animales , Ácidos Grasos Volátiles , Humanos , Inflamación , Hepatopatías/etiología , Ratones , PermeabilidadRESUMEN
AIMS: To describe stroke syndromes and transcranial Doppler (TCD) findings in children with human immunodeficiency virus (HIV) and examine the associations between TCD and clinical and laboratory data. METHOD: We enrolled 42 children (24 males, 18 females) with HIV (median age=7y 6mo; 2y 7mo-15y 6mo), with and without stroke who underwent a TCD examination of the anterior and posterior circulations to derive time-averaged maximum mean velocity (TAMMV) measurements for comparison with previous studies. Clinical and laboratory variables were extracted from the medical records. RESULTS: Of the 42 children with HIV, five had right-sided hemiparesis, three had chronic lung disease, two occurred post-varicella infection, one after herpetic oral ulceration, and one had a poorly functioning left ventricle. Neuroimaging showed middle cerebral artery (MCA) TAMMV greater than 200cm/s, moyamoya-like arteriopathy, left basal ganglia infarction with ipsilateral stenosis, hygroma consistent with venous thrombosis, and a hyperdense left MCA. Eight neurologically asymptomatic children had atypical TCD. The CD4 cell count was non-significantly lower in 6 out of 30 children with atypical TCD (median=21.5; interquartile range=16.1-26.5) compared with the remainder (median=29; interquartile range=21.3-35.0; p=0.09). INTERPRETATION: A variety of stroke syndromes occur in children with HIV. TCD suggests atypical intracranial vessels and/or haemodynamics in some children with HIV infection, consistent with vasculopathy, possibly related directly to immunodeficiency and/or infection. WHAT THIS PAPER ADDS: A range of stroke syndromes are found in children with human immunodeficiency virus (HIV). Transcranial Doppler (TCD) velocities in HIV are commonly outside the range for typically developing children. TCD and neuroimaging data in children with HIV suggest intracranial vasculopathy as one mechanism for stroke. CD4 cell count is non-significantly lower in children with HIV and atypical TCD.
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Infecciones por VIH/complicaciones , Infecciones por VIH/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Ultrasonografía Doppler Transcraneal , Adolescente , Estudios de Casos y Controles , Circulación Cerebrovascular/fisiología , Niño , Preescolar , Femenino , Infecciones por VIH/fisiopatología , Humanos , Angiografía por Resonancia Magnética , Masculino , Accidente Cerebrovascular/fisiopatología , Accidente Cerebrovascular/virología , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens. METHOD: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase. RESULTS: Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect. CONCLUSIONS: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.
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Autoantígenos/análisis , Enfermedades Autoinmunes/terapia , Encefalopatías/terapia , Sistema Nervioso Central/inmunología , Adolescente , Pueblo Asiatico , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/psicología , Población Negra , Encefalopatías/diagnóstico , Encefalopatías/inmunología , Niño , Preescolar , Estudios de Cohortes , Interpretación Estadística de Datos , Electrofisiología , Femenino , Humanos , Inmunoterapia , Lactante , Masculino , Trastornos Mentales/etiología , Trastornos Mentales/psicología , Canales de Potasio con Entrada de Voltaje/inmunología , Receptores de N-Metil-D-Aspartato/inmunología , Resultado del Tratamiento , Población BlancaRESUMEN
BACKGROUND AND AIMS: Because of COVID-19 public health restrictions, telemedicine has replaced conventional outpatient follow up for most patients with chronic immune-mediated inflammatory disorders treated with biologic drugs. Innovative solutions to facilitate remote therapeutic drug monitoring are therefore required. Low-volume intracapillary blood sampling can be undertaken by patients at home and samples returned by post to central laboratories. We sought to report the effect of the COVID-19 pandemic on requests for therapeutic drug monitoring and the equivalence, acceptability and effectiveness of low volume Patient-led Remote IntraCapillary pharmacoKinetic Sampling [fingerPRICKS] compared to conventional venepuncture. METHODS: We undertook a cross-sectional blood sampling methods comparison study and compared sample types using linear regression models. Drug and antidrug antibody levels were measured using standard ELISAs. Acceptability was assessed using a purpose-designed questionnaire. RESULTS: Therapeutic drug monitoring requests for adalimumab (96.5 [70.5-106] per week to 52 [33.5-57.0], p < 0.001) but not infliximab (184.5 [161.2-214.2] to 161 [135-197.5], p = 0.34) reduced during the first UK stay-at-home lockdown compared with the preceding 6 months. Fingerprick sampling was equivalent to conventional venepuncture for adalimumab, infliximab, vedolizumab and ustekinumab drug, and anti-adalimumab and anti-infliximab antibody levels. The median [interquartile range] volume of serum obtained using intracapillary sampling was 195 µL [130-210]. More than 87% [90/103] of patients agreed that intracapillary testing was easy and 69% [71/103] preferred it to conventional venepuncture. In routine care, 75.3% [58/77] of patients returned two blood samples within 14 days to permit remote assessment of biologic therapeutic drug monitoring. CONCLUSIONS: Therapeutic drug monitoring can be undertaken using patient-led remote intracapillary blood sampling and has the potential to be a key adjunct to telemedicine in patients with immune-mediated inflammatory diseases.
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Monitoreo de Drogas , Enfermedades Inflamatorias del Intestino , Autoevaluación , Adalimumab/uso terapéutico , COVID-19 , Estudios Transversales , Monitoreo de Drogas/métodos , Humanos , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Infliximab/uso terapéutico , Pandemias , SARS-CoV-2 , Reino UnidoRESUMEN
Alcohol is inextricably linked with the digestive system. It is absorbed through the gut and metabolised by hepatocytes within the liver. Excessive alcohol use results in alterations to the gut microbiome and gut epithelial integrity. It contributes to important micronutrient deficiencies including short-chain fatty acids and trace elements that can influence immune function and lead to liver damage. In some people, long-term alcohol misuse results in liver disease progressing from fatty liver to cirrhosis and hepatocellular carcinoma, and results in over half of all deaths from chronic liver disease, over half a million globally per year. In this review, we will describe the effect of alcohol on the gut, the gut microbiome and liver function and structure, with a specific focus on micronutrients and areas for future research.
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Trastornos Relacionados con Alcohol/fisiopatología , Alcoholismo/fisiopatología , Microbioma Gastrointestinal/efectos de los fármacos , Mucosa Intestinal/efectos de los fármacos , Hígado/efectos de los fármacos , Alcoholismo/complicaciones , Humanos , Intestinos/efectos de los fármacos , Hepatopatías Alcohólicas/fisiopatología , Micronutrientes/deficienciaRESUMEN
BACKGROUND: Sickle cell anemia is one of the commonest causes of stroke in children. It is usually, but not always, associated with intracranial vasculopathy. We have assessed the value of ultrasound screening for extracranial internal carotid artery disease. DESIGN AND METHODS: Using Doppler ultrasound scanning, we assessed peak systolic blood velocity, tortuosity and stenosis in the extracranial internal carotid arteries of 236 children with sickle cell anemia. Seventeen of the children had previously had a stroke. All measurements were performed as part of routine clinical care. RESULTS: The median extracranial internal carotid artery velocity was 148cm/s (5(th) centile 84, 95(th) centile 236). Higher velocities were significantly correlated with younger age, higher white blood cell counts and higher rates of hemolysis. Fourteen (5.9%) had tortuous extracranial internal carotid arteries and 13 (5.4%) had stenosis or occlusion. None of the children with tortuous vessels but 8 of those with stenosis had previously had a stroke; the presence of stenosis was strongly associated with overt clinical stroke (OR 35.9, 95% C.I. 9.77-132, P<0.001). In 6 children, extracranial stenosis was part of extensive intracranial vasculopathy, but in 2 there was no evidence of intracranial disease. Stenosis seemed to be more common in older children. CONCLUSIONS: Extracranial internal carotid artery stenosis is strongly associated with stroke in children with sickle cell anemia, and may explain some cases of stroke without overt intracranial vasculopathy. Doppler ultrasound scanning of extracranial internal carotid arteries is non-invasive and fairly quick to perform and may identify children at increased risk of stroke who would otherwise be missed. The value of extracranial internal carotid artery scanning should be studied prospectively.
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Anemia de Células Falciformes/complicaciones , Enfermedades de las Arterias Carótidas/diagnóstico , Arteria Carótida Interna/diagnóstico por imagen , Ultrasonografía Doppler Transcraneal/métodos , Adolescente , Velocidad del Flujo Sanguíneo , Enfermedades de las Arterias Carótidas/complicaciones , Arteria Carótida Interna/fisiopatología , Estenosis Carotídea/complicaciones , Estenosis Carotídea/diagnóstico , Niño , Preescolar , Femenino , Humanos , Modelos Logísticos , Masculino , Reproducibilidad de los Resultados , Factores de Riesgo , Sensibilidad y Especificidad , Accidente Cerebrovascular/complicacionesRESUMEN
Cerebrovascular disease resulting in stroke is a serious and preventable complication of sickle cell anaemia (SCA). Children at high risk of preventable stroke can be identified by transcranial Doppler ultrasound (TCD). Current guidelines in the UK recommend annual TCD screening from 3 years, although studies suggest an earlier peak incidence, between 2 and 5 years. A single centre retrospective review was undertaken to identify the prevalence of stroke and success of TCD screening in young children. We report five episodes of stroke in under 3s and outcome of TCD screening in children under 3, compared to over 3. TCD analysis was as successful in the 2-3-year age group as in the 3-4-year group. We therefore propose that all children with SCA should be offered TCD screening from the age of 2 years. Furthermore, infants with high risk features of SCA should undergo a first attempt at TCD screening even earlier.
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Anemia de Células Falciformes/complicaciones , Accidente Cerebrovascular/prevención & control , Preescolar , Humanos , Lactante , Prevalencia , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Ultrasonografía Doppler TranscranealRESUMEN
Opsoclonus-myoclonus syndrome is a rare but serious neurological condition resulting in loss of control of eye movements, often accompanied by difficulties in posture and movement control with reports of sensory sensitivities potentially impacting on behavior. This pilot study characterizes the presence of atypical sensory behaviors in opsoclonus-myoclonus syndrome through questionnaire survey of a cohort of families. The Short Sensory Profile, Vineland Adaptive Behavior Scale, and Developmental Behaviour Checklist were distributed to 30 families; 16 were returned anonymously. Atypical sensory behaviors were identified in a large proportion (62.5%). Children reported as being more anxious showed greater sensitivity to auditory stimuli, U(14) 11, P = .026. This is consistent with recent recognition of more extensive disease neurocognitive effects in Opsoclonus-myoclonus syndrome. Further research is needed to increase understanding of the complex pathology of this disease and to provide indicators for sensory and behavioral as well as pharmacological interventions.
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Síndrome de Opsoclonía-Mioclonía/fisiopatología , Trastornos de la Sensación/fisiopatología , Adolescente , Ansiedad/epidemiología , Niño , Preescolar , Estudios de Cohortes , Familia , Femenino , Humanos , Lactante , Masculino , Síndrome de Opsoclonía-Mioclonía/epidemiología , Síndrome de Opsoclonía-Mioclonía/psicología , Proyectos Piloto , Prevalencia , Trastornos de la Sensación/epidemiología , Encuestas y CuestionariosRESUMEN
Childhood-onset neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecular genetic background of the disorder, at least seven different forms are thought to exist. Northern epilepsy is a novel form of NCL so far described only in Finland, where all patients are homozygous for a missense mutation in the CLN8 gene. A variant form of late infantile NCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity among the NCL, the underlying gene (CLN7) being unknown. Recently, we reported homozygosity over the Northern epilepsy CLN8 gene region on 8p23 in four out of five Turkish vLINCL families studied. However, no common mutation in CLN8 was found in these families. We have now extended the Turkish vLINCL family panel to 18 families, of which only one is nonconsanguineous. Nine families were excluded from CLN8 by lack of homozygosity. In the remaining families, four CLN8 gene mutations were identified indicating that in a subset of patients with Turkish vLINCL, the disorder is allelic to Northern epilepsy. There is no apparent genotype-phenotype correlation among the Turkish patients with CLN8 mutations, although their phenotype is distinct from that of Finnish Northern epilepsy patients. The molecular genetic background of the Turkish vLINCL families not linked to CLN8 remains to be clarified.
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Alelos , Epilepsia/genética , Proteínas de la Membrana/genética , Mutación , Lipofuscinosis Ceroideas Neuronales/genética , Adolescente , Niño , Análisis Mutacional de ADN , Femenino , Homocigoto , Humanos , Masculino , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Linaje , TurquíaRESUMEN
OBJECTIVE: Opsoclonus-myoclonus syndrome (OMS) is a serious, often disabling neurological illness of early childhood which is frequently associated with occult neuroblastoma. As investigation methods vary significantly, the authors assessed the usefulness of imaging and metabolic studies in tumour detection. METHODS: Retrospective case note review of 101 OMS patients from two paediatric neurology centres over 53 years. RESULTS: The prevalence of neuroblastoma in OMS was 8% in the 1970s, 16% in the 1980s, 38% in the 1990s and 43% in the 2000s, with tumours being mainly low grade. CT/MR imaging of the chest and abdomen was the most accurate test to detect occult neuroblastoma. Poorer sensitivities were noted for metaiodobenzylguanidine scintigraphy and urine catecholamines, reflecting the low metabolic activity of these tumours. CONCLUSION: CT/MR imaging has the highest detection rate of neuroblastoma and this should be reflected in investigation protocols to achieve the best possible outcome for children with OMS.
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Neuroblastoma/complicaciones , Neuroblastoma/diagnóstico , Síndrome de Opsoclonía-Mioclonía/etiología , Neoplasias Abdominales/complicaciones , Neoplasias Abdominales/diagnóstico , Biomarcadores de Tumor/orina , Catecolaminas/orina , Niño , Humanos , Londres/epidemiología , Imagen por Resonancia Magnética , Neuroblastoma/epidemiología , Síndrome de Opsoclonía-Mioclonía/epidemiología , Prevalencia , Estudios Retrospectivos , Escocia/epidemiología , Neoplasias Torácicas/complicaciones , Neoplasias Torácicas/diagnóstico , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: Opsoclonus-myoclonus syndrome (OMS) is a serious and often chronically disabling neurologic illness with onset in early childhood. Our aim was to identify long-term neurologic sequelae of OMS and predictors for disease outcome. METHODS: We retrospectively assessed the case records of 101 patients diagnosed with OMS over a 53-year period. Clinical data were obtained from medical record review; we documented age at onset, severity of symptoms, response to treatment, and neurocognitive sequelae. RESULTS: Overall, 21% of the patients had a neuroblastoma detected; however, in those born after 1990, this figure rose to 40%. Sixty-one percent of the patients had a chronic-relapsing course, 32% experienced several acute exacerbations, and 7% had a monophasic course. At the most recent review, 60% had residual motor problems, 66% speech abnormalities, 51% learning disability, and 46% behavior problems. One-third of the patients had normal intellectual outcome and cessation of symptoms. A severe initial presentation predicted a chronic disease course (odds ratio [OR]: 2.77 [95% confidence interval (CI): 1.47-5.23]; P = .002) and later learning disability (OR: 2.03 [95% CI: 1.08-3.79]; P = .026). Those with cognitive impairment were younger at disease onset (15.0 vs 19.5 months; P = .029). A chronic-relapsing disease course was associated with motor (P < .001), speech (P = .001), cognitive (P < .001), and behavior (P = .006) problems. CONCLUSIONS: OMS is a chronic and debilitating illness; those with severe initial symptoms and those who are very young at disease onset are at increased risk of developing long-term sequelae. It is important for affected children to be identified early, because they might benefit from targeted immunomodulating therapy in specialist centers.
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Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/terapia , Síndrome de Opsoclonía-Mioclonía/diagnóstico , Síndrome de Opsoclonía-Mioclonía/terapia , Enfermedad Crónica , Discapacidades del Desarrollo/etiología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Síndrome de Opsoclonía-Mioclonía/complicaciones , Prednisolona/uso terapéutico , Pronóstico , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Mutations in the CACNA1A gene were described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. Familial hemiplegic migraine and episodic ataxia type 2 are caused by point mutations in the CACNA1A gene, and spinocerebellar ataxia type 6 develops as a result of a CAG triple expansion in exon 1 of the gene. Phenotypic variability and clinical overlap are well recognized. We describe a 3-year-old child with clinical and radiologic signs of early-onset cerebellar atrophy. The family history was significant for migraine, and in some members of the family, a diagnosis of hemiplegic migraine was established. The combination of cerebellar atrophy in our patient and the family history suggested involvement of the CACNA1A gene. The sequence analysis of genomic DNA from the proband identified heterozygosity for a mutation (Thr666Met) in the CACNA1A gene. Subsequently, his father, who was mildly affected, and two other relatives were demonstrated to carry the same mutation. Therefore, CACNA1A gene mutations should be considered in the differential diagnosis of congenital cerebellar atrophy.
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Canales de Calcio/genética , Disinergia Cerebelosa Mioclónica/diagnóstico , Disinergia Cerebelosa Mioclónica/genética , Mutación Puntual/genética , Preescolar , Humanos , Masculino , LinajeRESUMEN
Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condition is important, because prenatal genetic diagnosis can be offered to affected families. Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder.
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Adenilosuccinato Liasa/deficiencia , Errores Innatos del Metabolismo , Adenilosuccinato Liasa/genética , Encéfalo/enzimología , Encéfalo/patología , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética/métodos , Masculino , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/metabolismo , Reino UnidoRESUMEN
White matter changes in the neonatal period are commonly associated with hypoxic-ischaemic injuries and, less frequently, infections. Enteroviral (EV) meningoencephalitis as a cause of extensive white matter changes in newborns is well documented but Human Parechovirus (HPeV) associated with a similar picture has only been recently recognized. We report a case of HPeV-related neonatal meningoencephalitis associated with extensive white matter abnormalities, giving rise to a wide differential diagnosis including consequences of hypoxic-ischaemic encephalopathy (HIE) and periventricular leucomalacia (PVL). This case highlights the importance of excluding both EV and HPeV infection in neonates presenting with signs and symptoms of encephalitis. Moreover, HPeV infection ought to be considered in infants with white matter changes suggestive of HIE but no convincing history of a perinatal hypoxic-ischaemic insult.
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Encefalopatías/etiología , Encefalopatías/patología , Fibras Nerviosas Mielínicas/patología , Parechovirus/patogenicidad , Infecciones por Picornaviridae/complicaciones , Encefalopatías/virología , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodosRESUMEN
OBJECTIVE: To assess the role of transcranial Doppler (TCD) scanning in assessing the risk of stroke in children with haemoglobin SC (HbSC) disease. TCD scanning has an established role in primary stroke prevention in sickle cell anaemia but its value in HbSC is unknown. DESIGN: A retrospective audit of routinely performed TCD scans and routinely collected clinical data. SETTING: A paediatric sickle cell clinic in a teaching hospital in south London, UK. PATIENTS: 46 children with HbSC disease who have undergone routinely performed TCD scans and steady-state blood tests. MAIN OUTCOME MEASURES: The time-averaged mean of the maximum velocity (TAMMV) in the middle cerebral artery circulation correlated with clinical and laboratory data. RESULTS: The mean TAMMV was 94 cm/s, with a 98(th) centile of 128 cm/s. This is significantly less than the published ranges for HbSS, with a mean reading of 129 cm/s. One child had a stroke at the age of 5 years, when her TAMMV was measured at 146 cm/s. CONCLUSIONS: Further studies are needed to assess stroke risk in HbSC disease, but we suggest that TCD measurements are potentially useful in this condition, and that readings greater than 128 cm/s are abnormally high and warrant further investigation.
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Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Adolescente , Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/fisiopatología , Velocidad del Flujo Sanguíneo , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Arteria Cerebral Media/diagnóstico por imagen , Arteria Cerebral Media/fisiopatología , Recuento de Plaquetas , Estudios Retrospectivos , Medición de Riesgo/métodos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/fisiopatología , Ultrasonografía Doppler Transcraneal/métodosRESUMEN
OBJECTIVE: Increased intracerebral blood velocity measured by transcranial Doppler scanning identifies children with sickle cell anemia who are at increased risk of stroke. We have tried to develop an index based on routine clinical measurements that also predicts increased intracerebral blood flow. METHOD: Routinely collected clinical and laboratory data were correlated with transcranial Doppler measurements on children with sickle cell anemia seen in a single institution in 2006. The index produced was validated on a second independent data set from children with sickle cell anemia. RESULTS: The time-averaged mean of the maximum velocity in centimeters per second in the middle cerebral artery circulation correlated significantly with age, hemoglobin, lactate dehydrogenase, and aspartate transaminase levels, white blood cell count, and creatinine level. On multiple regression, hemoglobin and aspartate transaminase levels maintained their significance, whereas age had borderline significance, and an index was developed linked to a time-averaged mean of the maximum velocity of 220 - (8 x hemoglobin) - (1.4 x age) + (0.4 x aspartate transaminase). This detected a time-averaged mean of the maximum velocity of >170 cm/second with 100% sensitivity and 58% specificity. The index was validated on the second data set and again showed 100% sensitivity with 73% specificity. CONCLUSION: This simple index has the potential to identify children who are at higher risk of cerebrovascular disease to allow them to be prioritized for transcranial Doppler scanning and other intracerebral imaging.