Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage.

Galactosemia is a rare genetic condition caused by mutation of enzymes involved in galactose and glucose metabolism. The varying clinical spectrum reflects the genetic complexity of this entity manifesting as acute neonatal toxicity syndrome, requiring prompt diagnosis and treatment, to more insidious clinical scenarios as observed in the subacute and chronic presentations. The current literature predominantly focuses on the long-standing sequelae of this disease. The purpose of this multicenter clinical report comprising 17 patients with galactosemia is to highlight the MR imaging patterns encompassing the whole spectrum of galactosemia, emphasizing the 3 main clinical subtypes: 1) acute neonatal presentation, with predominant white matter edema; 2) subacute clinical onset with a new finding called the "double cap sign"; and 3) a chronic phase of the disease with heterogeneous imaging findings. The knowledge of these different patterns together with MR spectroscopy and the clinical presentation may help in prioritizing galactosemia over other neonatal metabolic diseases and prevent possible complications.

Asymptomatic Strongyloides stercoralis hyperinfection in an alcoholic patient with intense anemia.

Strongyloides stercoralis infection is endemic in many tropical and subtropical areas. The parasite has the unusual ability to multiply inside the host due to the transformation of rhabditiform larvae into infective filariforms. Several studies have shown that chronic alcoholism is an important factor that predisposes to strongyloidiasis. The increased susceptibility to S. stercoralis infections seen in alcoholic individuals could be explained by their increased exposure to the parasite, malnutrition, breakdown of local immune responses, and/or alterations in intestinal barriers. Moreover, ethanol intoxication can elevate human endogenous corticosterone, which, in turn, suppresses T cell function and increases the fecundity and survival of the parasite, mimicking the effect of worm ecdysteroides. Although chronic alcoholism is a risk factor for nematode infection, most cases of hyperinfection or dissemination are associated with the presence of hepatic cirrhosis or strongyloidiasis-related symptoms. The present study describes a case of S. stercoralis hyperinfection in a 51-yr-old male patient without gastrointestinal or pulmonary symptoms and with previous anemia and chronic alcoholism. He was not receiving glucocorticoid therapy and tested negative for HTLV and human immunodeficiency virus (HIV), but he had a history of alcohol addiction for more than 20 yr. Laboratory test results showed increased eosinophilia and a high immunoglobulin E (IgE) level, which may have temporarily protected the patient from dissemination of infection, but not prevented proliferation of the parasite, as shown by the large number of S. stercoralis larvae recovered using the Baermann method. Evaluation for strongyloidiasis should occur in alcoholics, especially in endemic areas, to prevent occult asymptomatic infections from progressing to life-threatening cases.

Nutritional deficiency in citrus with symptoms of citrus variegated chlorosis disease.

It is well known that citrus plants that have been infected by Xylella fastidiosa display nutritional deficiencies, probably caused by production of extracellular polymers by the bacteria that block normal nutrient flow through the xylem. The aim of this work was to study the mineral composition of specific foliar areas in different stages of infection in citrus. Thus, the concentrations of macro and micronutrients in leaves of citrus infected by X. fastidiosa were measured. Samples from four infected citrus orchards in the State of São Paulo, Brazil, were respectively collected from Santa Rita do Passa Quatro, Neves Paulista, Gavião Peixoto and Paraíso counties. The presence of X. fastidiosa in leaves was confirmed by polymerase chain reaction (PCR) using specific PCR primers. To understand the variation in leaf-nutrient content in citrus plants, we used foliar nutrient values from control (non-symptomatic) plants as a reference. Chemometric analysis showed that the deficiency of P and K in symptomatic trees for all orchards and high concentrations of Fe, Mn and Zn were observed in chlorotic areas, although other studies revealed deficiency of zinc in leaves. This is the first report showing that a correlation between chlorotic citrus leaf and higher concentrations of Fe, Mn and Zn are observed when infected and healthy plants were compared.

Nutritional deficiency in citrus with symptoms of citrus variegated chlorosis disease / Deficiência nutricional em citros com sintomas da doença da clorose variegada dos citros

It is well known that citrus plants that have been infected by Xylella fastidiosa display nutritional deficiencies, probably caused by production of extracellular polymers by the bacteria that block normal nutrient flow through the xylem. The aim of this work was to study the mineral composition of specific foliar areas in different stages of infection in citrus. Thus, the concentrations of macro and micronutrients in leaves of citrus infected by X. fastidiosa were measured. Samples from four infected citrus orchards in the State of São Paulo, Brazil, were respectively collected from Santa Rita do Passa Quatro, Neves Paulista, Gavião Peixoto and Paraíso counties. The presence of X. fastidiosa in leaves was confirmed by polymerase chain reaction (PCR) using specific PCR primers. To understand the variation in leaf-nutrient content in citrus plants, we used foliar nutrient values from control (non-symptomatic) plants as a reference. Chemometric analysis showed that the deficiency of P and K in symptomatic trees for all orchards and high concentrations of Fe, Mn and Zn were observed in chlorotic areas, although other studies revealed deficiency of zinc in leaves. This is the first report showing that a correlation between chlorotic citrus leaf and higher concentrations of Fe, Mn and Zn are observed when infected and healthy plants were compared.

Já é bem conhecido que cultivares cítricas que foram infectadas pela bactéria Xylella fastidiosa apresentam deficiências nutricionais devido à produção de polímero extracelular por esta bactéria, o qual bloqueia o fluxo normal de nutriente pelo xilema. O objetivo deste trabalho foi o de estudar a composição mineral em áreas foliares específicas em diferentes fases de infecção na planta. Assim, as concentrações de macro e micronutrientes em folhas de citros infectados por X. fastidiosa foram quantificadas. Foram coletadas amostras de quatro pomares cítricos infectados localizados em: Santa Rita do Passa Quatro, Neves Paulista, Gavião Peixoto e Paraíso, no Estado de São Paulo. A presença de X. fastidiosa em folhas foi confirmada através de reação da polimerase em cadeia (PCR) usando iniciadores específicos. Para entender a variação no conteúdo de nutriente foliar em plantas cítricas, utilizou-se de valores de nutrientes foliares de plantas não sintomáticas (controle) como referência. A análise quimiométrica mostrou que a deficiência de P e K em plantas sintomáticas e concentrações altas de Fe, Mn e Zn foram presentes em áreas foliares cloróticas, embora outros estudos mostrem a deficiência de zinco em folhas. Este é o primeiro relato indicando que uma correlação entre folhas cítricas cloróticas e elevadas concentrações de Fe, Mn e Zn foi observada quando plantas infectadas e saudáveis foram comparadas.