571 research outputs found
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis (case report)
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter
Sialic acid and glucuronic acid are monocarboxylated monosaccharides,
which are normally present in sugar side chains of glycoproteins,
glycolipids, and glycosaminoglycans. After degradation of these compounds
in lysosomes, the free monosaccharides are released from the lysosome by a
specific membrane transport system. This transport system is deficient in
the human hereditary lysosomal sialic acid storage diseases (Salla disease
and infantile sialic acid storage disease, OMIM 269920). The lysosomal
sialic acid transporter from rat liver has now been purified to apparent
homogeneity in a reconstitutively active form by a combination of
hydroxyapatite, lectin, and ion exchange chromatography. A 57-kDa protein
correlated with transport activity. The transporter recognized
structurally different types of acidic monosaccharides, like sialic acid,
glucuronic acid, and iduronic acid. Transport of glucuronic acid was
inhibited by a number of aliphatic monocarboxylates (i.e. lactate
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis
The authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and inferior vena cava. The embryological mechanisms and etiologic theories are discussed in short
Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability
The Role of Personal Goals in Depressive Reaction to Adverse Life Events: A Cross-Sectional Study
Consistent with cognitive views of depression, we aimed to investigate the mediating role of personal goals in the relationship between stressful events and distinct patterns of depressive symptoms in a nonclinical sample. Participants identified a dysphoric episode that occurred in the previous year by reporting the severity of 12 depressive symptoms and their plausible cause. A goal taxonomy was used to determine how much the event interfered with the achievement of a series of personal goals. After controlling for age and current level of depression, the patterns of symptoms differed based on the triggering events. The relationship between sadness and affective losses was partially mediated by the personal goal of lovableness, and success was a partial mediator in the association between an event of failure and symptoms of worthlessness and anhedonia. Although the cross-sectional design of the study does not allow for conclusions on the direction of effects, findings suggest the importance of motivational factors in the development of specific patterns of depressive symptoms to adverse events. Assuming a continuum from low mood to clinical depression, treatment models could benefit from a precise identification of the specific stressors that initiate depressive behaviour and the personal meaning assigned to those events
Meningitis with cranial polyneuritis and cavernous sinus thrombosis by Borrelia crocidurae: First autochthonous case in Europe
Borrelia crocidurae is endemic in West Africa, where it represents the leading cause of tick-borne relapsing fever (TBRF). TBRF typically presents with high fever and systemic symptoms, followed by recurrent episodes. Neurological complications may occur during febrile relapses. B. crocidurae is considered the most neurotropic agent of TBRF and is associated to severe neurological manifestations i.e. meningitis and encephalitis.To date, European cases of B. crocidurae infection have been reported in travelers returning from endemic areas. We report the first autochthonous case in Europe of B. crocidurae infection, presenting as meningitis with cranial polyneuritis and cavernous sinus thrombosis that were not preceded by classic febrile recurrences. Keywords: Borrelia crocidurae, Europe, Autochthonous, Meningitis, Cranial polyneuritis, Cavernous sinus thrombosi
A new hexapeptide from the leader peptide of rMnSOD enters cells through the oestrogen receptor to deliver therapeutic molecules
A 24-amino acid leader peptide of a new human recombinant manganese superoxide dismutase can
enter cells and carry molecules. Here, we demonstrated that six of the 24 amino acids penetrate cells
through a particular gate represented by a specific amino acid sequence of the oestrogen receptor
(ER). We analysed the internalization of the synthetic hexapeptide and the cytotoxic activity of the
hexapeptide conjugated to cisplatin on a cell line panel. In most cell lines, the hexapeptide delivered
an amount of cisplatin that was 2 to 8 times greater than that released by cisplatin when the drug
was used alone. This increased delivery increases the therapeutic index of cisplatin and reduces side
effects caused by a high dosage or long-term treatment times. We may consider this hexapeptide a new
molecular carrier to deliver molecules with therapeutic activity into ER+ cells for diagnostic purposes
and clinical or immune therapy
Combined cardiological and neurological abnormalities due to filamin A gene mutation
Background: Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We noticed that some patients diagnosed at the neurogenetics clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected. Methods and results: From the Erasmus MC cerebral malformations database 24 patients were identified with cerebral bilateral periventricular nodular heterotopia (PNH) without other cerebral cortical malformations. In six of these patients, a pathogenic mutation in FLNA was present. In five a cardiac defect was also found in the outflow tract. Four had presented to a cardiologist before the cerebral abnormalities were diagnosed. Conclusions: The cardiological phenotype typically consists of aortic or mitral regurgitation, coarctation of the aorta or other left-sided cardiac malformations. Most patients in this category will not have a FLNA mutation, but the presence of neurological complaints, hyperlaxity of the skin or joints and/or a family history with similar cardiac or neurological problems in a possibly X-linked pattern may alert the clinician to the possibility of a FLNA mutation
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