Asunto(s)
Corea/etiología , Lupus Eritematoso Sistémico/complicaciones , Adolescente , Adulto , Factores de Edad , Antiinflamatorios/uso terapéutico , Anticonvulsivantes/uso terapéutico , Niño , Corea/diagnóstico , Cortisona/uso terapéutico , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Imagen por Resonancia Magnética , Masculino , Metotrexato/uso terapéutico , Factores de TiempoRESUMEN
We describe a 19-year-old woman with haemolytic anaemia and thrombocytopenia as the initial manifestation of Wilson disease (WD). There are two reasons for reporting such an improbable case. First, it emphasizes the importance of recognizing atypical clinical presentations of potentially lethal recessive traits for which therapy is available. Second, it shows that, even in a monogenic disorder like WD, the phenotype cannot be extrapolated from the mutated genotype in a simple fashion; this patient had a relatively late-onset form of WD despite homozygosity for a genetic lesion leading to an apparent complete loss of function of the WD copper transporter.
Asunto(s)
Adenosina Trifosfatasas/genética , Anemia Hemolítica/etiología , Proteínas Portadoras/genética , Proteínas de Transporte de Catión , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/genética , Trombocitopenia/etiología , Adulto , Anemia Hemolítica/tratamiento farmacológico , Quelantes/uso terapéutico , Terapia por Quelación , Cobre , ATPasas Transportadoras de Cobre , Femenino , Degeneración Hepatolenticular/tratamiento farmacológico , Homocigoto , Humanos , Masculino , Mutación , Análisis de Secuencia de ADN , Trombocitopenia/tratamiento farmacológico , Trientina/uso terapéuticoRESUMEN
Intranasal administration of 1-deamino 8-D-arginine vasopressin (DDVAP) used for treatment of nocturnal enuresis (NE), might be expected to have various effects on the nasal mucosa, e.g. altering the clearance by the mucociliary apparatus. We evaluated two samples (brushes) of epithelial surface cells from the nasal mucosa, one from each nostril, of 18 children (ten males and eight females) with a mean age of 7.7 years (range: 5-13 years) who were affected by primary NE. Samples were taken before and 1 and 6 months after administration of DDVAP spray. No qualitative changes in the epithelial surface cells from nasal mucosa were recognized and only non-statistically significant increases in percentages of goblet, ciliated, basal and unciliated cells at 1 and 6 months after therapy were observed. Thus, it appears that DDVAP spray can be used for at least 6 months in children without apparent risk of damage to the epithelial surface cells from the nasal mucosa.
Asunto(s)
Desamino Arginina Vasopresina/administración & dosificación , Enuresis/patología , Mucosa Nasal/efectos de los fármacos , Fármacos Renales/administración & dosificación , Administración Intranasal , Adolescente , Aerosoles , Niño , Preescolar , Enuresis/tratamiento farmacológico , Epitelio/efectos de los fármacos , Epitelio/patología , Femenino , Humanos , Masculino , Mucosa Nasal/patologíaRESUMEN
We report a 10-year-old girl with Marin-Amat syndrome, a rare facial synkinesis sometimes referred to as the inverted Marcus Gunn phenomenon. Symptoms were apparent 6 months following unilateral peripheral facial nerve palsy. Her facial synkinesis failed to improve, despite improvement in her facial palsy consistent with an aberrant regeneration of the facial nerve. The clinical Several neurologic syndromes feature abnormal interactions, or synkinesis, between anatomically proximate muscle groups. Among these, the Marcus Gunn phenomenon (trigemino-oculomotor synkinesis) is one of the best described in children. The Marcus Gunn phenomenon, or 'jaw-winking phenomenon,' consists of unilateral congenital ptosis and retraction of the ptotic lid upon moving of the lower jaw. Although many adults have been reported with this synkinesis, it is usually most prominent in newborn infants, in whom rapid spasmodic movements of the lid are seen during periods of nursing. In general, the Marcus Gunn phenomenon is unilateral and sporadic although familial and bilateral cases have been reported. Marin-Amat syndrome (or 'inverse Marcus Gunn phenomenon') is a rarely reported synkinesis in which one eyelid closes upon full opening of the jaw or movement of the jaw laterally. We now report a 10-year-old patient who began to develop features of Marin-Amat syndrome involving the right eyelid 1 month following right facial nerve palsy. This is the first documented report of this syndrome in a child.
Asunto(s)
Blefaroptosis , Parálisis Facial , Nervios Periféricos/anomalías , Niño , Femenino , Lateralidad Funcional , Humanos , Maxilares , Labio , Movimiento , SíndromeRESUMEN
In the present study we report two novel partial deletions of the LDL-R gene. The first (FH Siracusa), found in an FH-heterozygote, consists of a 20 kb deletion spanning from the 5' flanking region to the intron 2 of the LDL-receptor gene. The elimination of the promoter and the first two exons prevents the transcription of the deleted allele, as shown by Northern blot analysis of LDL-R mRNA isolated from the proband's fibroblasts. The second deletion (FH Reggio Emilia), which eliminates 11 nucleotides of exon 10, was also found in an FH heterozygote. The characterization of this deletion was made possible by a combination of techniques such as single strand conformation polymorphism (SSCP) analysis, direct sequence of exon 10 and cloning of the normal and deleted exon 10 from the proband's DNA. The 11 nt deletion occurs in a region of exon 10 which contains three triplets (CTG) and two four-nucleotides (CTGG) direct repeats. This structural feature might render this region more susceptible to a slipped mispairing during DNA duplication. Since this deletion causes a shift of the BamHI site at the 5' end of exon 10, a method has been devised for its rapid screening which is based on the PCR amplification of exon 10 followed by BamHI digestion. FH Reggio Emilia deletion produces a shift in the reading frame downstream from Lys458, leading to a sequence of 51 novel amino acids before the occurrence of a premature stop codon (truncated receptor). However, since RT-PCR failed to demonstrate the presence of the mutant LDL-R mRNA in proband fibroblasts, it is likely that the amount of truncated receptor produced in these cells is negligible.
Asunto(s)
Mutación del Sistema de Lectura , Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Eliminación de Secuencia , Adulto , Alelos , Secuencia de Bases , Células Cultivadas , Niño , Preescolar , Clonación Molecular , Análisis Mutacional de ADN , Replicación del ADN , Desoxirribonucleasa BamHI , Femenino , Fibroblastos/patología , Heterocigoto , Humanos , Hiperlipoproteinemia Tipo II/etnología , Hiperlipoproteinemia Tipo II/patología , Italia/epidemiología , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Receptores de LDL/deficiencia , Secuencias Repetitivas de Ácidos Nucleicos , Repeticiones de TrinucleótidosRESUMEN
We describe a middle class Sicilian girl who at 8 months of age suffered acute post-streptococcal glomerulonephritis documented by clinical hist a positive type 12 beta-haemolytic streptococcus throat culture, a raised anti-sterptolysin O titre and a low C3 rising to normal after 8 weeks
Asunto(s)
Glomerulonefritis/microbiología , Infecciones Estreptocócicas/complicaciones , Streptococcus pyogenes , Enfermedad Aguda , Femenino , Humanos , Lactante , Faringitis/complicaciones , Faringitis/microbiologíaRESUMEN
A combined vaccine against measles, mumps and rubella (MMR) was administered to both a group of children aged 10-12 months simultaneously with booster doses of compulsory diphtheria-tetanus toxoids and oral poliovirus vaccine and a group of children aged 15-24 months who had previously received booster doses of the compulsory vaccines. Apart from one subject belonging to the second group who was non responder and one from the same group who did not seroconvert against the mumps virus alone, 5 to 6 weeks after MMR vaccine administration we found protective levels of antibodies against measles, mumps and rubella viruses in all children. The follow up of both groups at 3 years did not reveal difference between the two groups. Protective levels of serum antibodies against measles and mumps were found in the two groups, although a significant decline of rubella antibodies was shown (p < 0.05). Since the immunogenicity of the vaccines in the two groups did not differ, we recommend that the scientific community reconsider the vaccination schedule until now recommended. In our opinion the MMR vaccine should be administered simultaneously with booster doses of diphtheria-tetanus toxoids and oral poliovirus vaccine at 10-12 months of age because this policy improves parents' compliance, markedly reduces community costs and simplifies routine immunization schedule.
Asunto(s)
Anticuerpos Antivirales/sangre , Toxoide Diftérico/administración & dosificación , Esquemas de Inmunización , Vacuna Antisarampión/inmunología , Vacuna contra la Parotiditis/inmunología , Vacuna Antipolio Oral/administración & dosificación , Vacuna contra la Rubéola/inmunología , Toxoide Tetánico/administración & dosificación , Factores de Edad , Combinación de Medicamentos , Estudios de Seguimiento , Costos de la Atención en Salud , Humanos , Inmunización Secundaria , Lactante , Vacuna Antisarampión/administración & dosificación , Vacuna Antisarampión/efectos adversos , Vacuna contra el Sarampión-Parotiditis-Rubéola , Vacuna contra la Parotiditis/administración & dosificación , Vacuna contra la Parotiditis/efectos adversos , Vacuna contra la Rubéola/administración & dosificación , Vacuna contra la Rubéola/efectos adversos , Factores de TiempoRESUMEN
In the present study we have assayed antioxidant enzymatic activities of SOD, CAT, GSH-Px, GSH-Red, and G6PD in erythrocytes from two children with hemolytic-uremic syndrome (HUS) during the acute phase of the disease and after their recovery; in addition, we have tested the percentage of hemolysis after 24-h incubation in PBS containing glucose (1 g/1000 mL) or in the presence of their own plasma. Endogenous plasmatic MDA levels were also evaluated as lipid peroxidation marker. A significant decrease in SOD activity was found in erythrocytes from HUS patients, and the addition of their own plasma further decreased SOD activity. Elevated percentage of hemolysis was found in HUS patients when RBCs were incubated in their own plasma; this last effect was less evident in PBS + glucose.
Asunto(s)
Eritrocitos/enzimología , Depuradores de Radicales Libres , Síndrome Hemolítico-Urémico/enzimología , Catalasa/metabolismo , Preescolar , Femenino , Glucosafosfato Deshidrogenasa/metabolismo , Glutatión Peroxidasa/metabolismo , Glutatión Reductasa/metabolismo , Síndrome Hemolítico-Urémico/sangre , Humanos , Lactante , Peroxidación de Lípido/fisiología , Masculino , Malondialdehído/sangre , Superóxido Dismutasa/metabolismoRESUMEN
The Authors report a case of diaphragmatic eventration associated with Wolff-Parkinson-White's syndrome. It's difficult to explain this unusual association. It's possible that the presence of cardiac accessory pathways in this particular patient is due to the alteration of the normal anatomical relationship resulting from the diaphragmatic eventration.
Asunto(s)
Eventración Diafragmática/complicaciones , Síndrome de Wolff-Parkinson-White/complicaciones , Preescolar , Eventración Diafragmática/diagnóstico por imagen , Ecocardiografía , Electrocardiografía , Femenino , Humanos , Masculino , Radiografía , Síndrome de Wolff-Parkinson-White/diagnósticoRESUMEN
A prospective study was performed to verify whether early administration of prednisone could be useful in preventing the development of nephropathy in anaphylactoid purpura. Only patients without signs of nephropathy upon initial presentation entered into the study. A total of 84 patients received delta-prednisone (1 mg/kg per day per os for 2 weeks), and 84 patients did not receive steroids. The patients were followed for 24-36 months. None of the 84 patients treated with steroids and 10 (11.9%) of the 84 control patients developed nephropathy 2-6 weeks after the acute episode. In 2 other patients of the untreated group, signs of renal involvement appeared 2 and 6 years after the acute episode respectively. The difference in the prevalence of nephropathy between the two groups is highly significant (P less than 0.001).
Asunto(s)
Vasculitis por IgA/tratamiento farmacológico , Enfermedades Renales/prevención & control , Prednisona/uso terapéutico , Administración Oral , Niño , Preescolar , Femenino , Humanos , Vasculitis por IgA/inmunología , Masculino , Prednisona/administración & dosificación , Estudios Prospectivos , Factores de TiempoRESUMEN
We performed both kidney ultrasonography (KUS) and intravenous urography (IVU) in 56 children with urinary tract infections (UTI) to compare the effectiveness of these procedures in detecting urinary tract malformations (UTMs). In 7 patients where KUS findings were interpreted as normal, IVU detected the following UTMs: hydronephrosis (3), stenosis of the pelvi-ureteric junction (2), pelvi-ureteric duplication (1) and kidney dislocation (1). In 2 other patients, mild hydronephrosis diagnosed by KUS was not confirmed by IVU. With respect to IVU, KUS revealed a sensitivity of 77.4% and a specificity of 92%. In our experience, IVU is still irreplaceable in the diagnostic protocol of UTMs in children; KUS should be regarded as a useful complementary procedure.
Asunto(s)
Riñón/diagnóstico por imagen , Sistema Urinario/anomalías , Urografía , Niño , Preescolar , Femenino , Humanos , Lactante , Inyecciones Intravenosas , Masculino , Sensibilidad y Especificidad , Ultrasonografía , Sistema Urinario/diagnóstico por imagen , Infecciones Urinarias/diagnóstico por imagenRESUMEN
The authors report on three Sicilian families with 17 individuals (10 females and 7 males) in successive generations affected by atrial septal defect of ostium secundum type (S-ASD) without conduction defect. The anomaly was inherited as an autosomal dominant trait. Cytoplasmic inheritance could be excluded, the anomaly being transmitted also by fathers. Familial S-ASD is probably more frequent than commonly reported since cardiological examination of the relatives is not routinely performed in every case of apparently sporadic ASD.
Asunto(s)
Defectos del Tabique Interatrial/genética , Adulto , Anciano , Niño , Preescolar , Femenino , Genes Dominantes , Soplos Cardíacos/diagnóstico , Soplos Cardíacos/etiología , Soplos Cardíacos/genética , Defectos del Tabique Interatrial/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Linaje , SiciliaRESUMEN
A case of trisomy 9p syndrome is reported. The karyotype showed a tandem duplication of the short arm and of the inverted heterochromatic block of chromosome 9. Unequal sister chromatid exchange seems to be the only possible cause of this finding.