Brazilian Registry of Clinical Trials, www.ensaiosclinicos.gov.br, RBR-8qj4p5.
OBJECTIVE: To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD: The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospectively reviewed, highlighting neuropsychiatric aspects. RESULTS: Forty-seven patients were included. Neuropsychiatric syndromes were found 29 (61.7%): seizures (17 / 36.2%), intractable headache (7 / 14.9%), mood disorders (5 / 10.6%), cerebrovascular disease (4 / 8.5%), acute confusional state (3 / 6.4%), aseptic meningitis (3 / 6.4%), psychosis (3 / 6.4%), chorea (3 / 6.4%), Guillain-Barré syndrome (2 / 4.3%) and cranial neuropathy (1 / 2.1%). Morbidity indexes (SLEDAI and SLICC) were higher among patients with neuropsychiatric manifestations (p<0.05). CONCLUSION: Neuropsychiatric syndromes are frequent, and add significant morbidity to juvenile systemic lupus erythematosus.
-Introduction: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients p resent with lissencephaly, agenesis of the corpus callosum, re f r a c t o ry epilepsy of neonatal onset, acquire d m i c rocephaly and male genotype with ambiguous genitalia. Case re p o rt: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified micro c e p h a l y, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. K a ryotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.KEY WORDS: corpus callosum, ambiguous genitalia, epilepsy, ARX gene.Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG RESUMO -I n t rodução: Lisencefalia com genitália ambígua ligada ao X (XLAG) é doença genética re c e n t emente descrita, causada por mutação no genea r i s t a l e s s -related homeobox (ARX) (Xp22.13). Os pacientes a p resentam lisencefalia, agenesia de corpo caloso, epilepsia refratária com início no período neonatal, m i c rocefalia adquirida e genótipo masculino com genitália ambígua. Relato de caso: Segundo filho de pais não-consangüíneos, apresentou crises na primeira hora de vida que permaneceram refratárias a fenobarbital, fenitoína e midazolam. Apresentava microcefalia, hipotonia axial, sinais de liberação piramidal e genitália ambígua. EEG demonstrou atividade de base desorganizada, crises convulsivas com início nas regiões temporal-média, central e occipital direitas. RNM demonstrou paquigiria difusa, moderado espessamento do córtex, ventrículos aumentados, agenesia de corpo caloso e septo pelúcido. Cariótipo evidenciou genótipo 46,XY. Achados adicionais foram: hipercalciúria, refluxo vésico-ureteral, ducto arterioso persistente e diarréia crônica.
Pneumococcal vaccination has been recommended for immunocompromised children, including patients with chronic kidney disease. We determined pneumococcal immunoglobulin (Ig)G antibodies to serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F before and after 48 pediatric patients with chronic renal failure were administered heptavalent conjugated pneumococcal vaccine. The patients were between 1 and 9 years of age and were separated into a conservative treatment group (Group 1) and a dialysis group (Group 2). The antibody response to the vaccinal serotypes was evaluated by measuring antibody concentrations before the first dose and 60 days after the second one. Pre-vaccinal IgG concentrations > or = 0.35 microg/ml were detected for all serotypes in at least 50% of the patients in both groups. Patients from both groups showed a statistically indistinguishable behavior in terms of the medians of post-vaccination IgG levels. An "adequate" vaccine response was defined as a post-immunization level of specific pneumococcal serotype antibody > or = 0.35 microg/ml, based on the World Health Organization's (WHO) protective antibody concentration definition for pneumococcal conjugate vaccines, or on a fourfold increase over baseline for at least five of the seven antigens of the vaccine. An "adequate" vaccinal response was obtained in 100% of the patients of both groups using WHO's definition, or in 45.8% of Group 1 patients and 37.5% of Group 2 patients when the criterion was a fourfold antibody increase over baseline antibody concentrations.
Our data show that the DHD favored a 0.5 SDS height gain in a third of patients without GH treatment. Dialysis intensification was not a cause for treatment dropouts, and DHD should be considered as a treatment for selected cases, especially small children.
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