RESUMO
We report the best limit on coherent elastic scattering of electron antineutrinos emitted from a nuclear reactor off germanium nuclei. The measurement was performed with the CONUS detectors positioned at 17.1 m from the 3.9 GW_{th} reactor core of the nuclear power plant in Brokdorf, Germany. The antineutrino energies of less than 10 MeV assure interactions in the fully coherent regime. The analyzed dataset includes 248.7 kg d with the reactor turned on and background data of 58.8 kg d with the reactor off. With a quenching parameter of k=0.18 for germanium, we determined an upper limit on the number of neutrino events of 85 in the region of interest at 90% confidence level. This new CONUS dataset disfavors quenching parameters above k=0.27, under the assumption of standard-model-like coherent scattering of the reactor antineutrinos.
RESUMO
Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
Assuntos
Alopecia/congênito , Alopecia/complicações , Ictiose Ligada ao Cromossomo X/complicações , Deficiência Intelectual/complicações , Fotofobia/complicações , Agenesia do Corpo Caloso , Encéfalo/fisiopatologia , Pré-Escolar , Eletroencefalografia , Epilepsia/complicações , Epilepsia/fisiopatologia , Humanos , Ictiose Ligada ao Cromossomo X/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Lobo Occipital/fisiopatologia , Síndrome , Lobo Temporal/fisiopatologiaRESUMO
A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.
Assuntos
Candidíase Cutânea/patologia , Doença de Darier/patologia , Cabelo/anormalidades , Hérnia Inguinal/patologia , Ictiose/patologia , Deficiência Intelectual/patologia , Ceratite/patologia , Convulsões/patologia , Alopecia/patologia , Pré-Escolar , Doença Crônica , Surdez/patologia , Diagnóstico Diferencial , Humanos , Masculino , Linhagem , Fotofobia/patologia , SíndromeRESUMO
The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. Three new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus. The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.
Assuntos
Síndromes Neurocutâneas/patologia , Nevo/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Masculino , SíndromeRESUMO
Over a six-year period, 4 patients who had undergone previous portasystemic shunt procedures received an orthotopic liver transplantation (OLTx). The types of shunt used were porta-caval (2 patients), distal splenoral shunt (1 patient), and the Sugiura procedure (1 patient). The mean interval between shunt and transplantation was 3.25 years. There was no statistical difference in blood, plasma, and crystalloid requirements, cold and warm ischemia, duration of the transplantation procedure or postoperative complications between these 4 patients and any of the others.
Assuntos
Cirrose Hepática/cirurgia , Transplante de Fígado , Derivação Portossistêmica Cirúrgica , Adulto , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE: A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and low-set ears. Digital anomalies were bilateral brachyclinodactily of the fifth finger, and cutaneous syndactyly between second and third fingers. The boy had a pleasant personality but exhibit attachment for people and things with unrestricted affect. Cytogenetic analysis on peripheral white blood cells showed a r(8) chromosome. Parental karyotypes were both normal. CONCLUSIONS: The major features in the boy studied by us were found also in the other cases reported with an r(8) chromosome, but all they were non-specific features, and do not support the existence of a readily recognizable r(8) chromosome syndrome . Follow-up data with special emphasis on the behavioral characteristics are needed for defining an specific behavioral phenotype.