Beneficio de la rehabilitación y toxina botulínica en la enfermedad de Legg-Calvé-Perthes. A propósito de un caso / Benefits of botulinum toxin rehabilitation in Legg-Calvé-Perthes disease. A case report

El tratamiento de elección en la enfermedad de Perthes continúa actualmente en controversia. Si bien la literatura no muestra evidencia de que la Rehabilitación modifique la evolución natural de la enfermedad, los estudios publicados orientan a un beneficio del recorrido articular, reeducación de la marcha y de la fuerza muscular. Presentamos el caso de un niño de 8 años con enfermedad de Perthes, que se incluyó en el programa de Rehabilitación (fisioterapia más infiltración de toxina botulínica), presentando una evolución muy favorable, eludiendo la intervención quirúrgica. Dados los resultados hallados en nuestro estudio y la bibliografía revisada, postulamos que un programa de Rehabilitación en la enfermedad de Perthes puede proporcionar ganancia del recorrido articular y aumento de la fuerza muscular; proponiendo el tratamiento rehabilitador (infiltración de toxina botulínica más fisioterapia) como una posible opción terapéutica para aquellos pacientes con pronóstico más incierto (grupo B/C y edad menor de 8 años), donde el tratamiento quirúrgico no ofrece total garantía de éxito (AU)

The treatment of choice in Perthes disease is still controversial. Although there is no evidence in the literature that Rehabilitation modifies the natural history of disease, published studies have oriented towards benefits in terms of improvement in joint range, muscle strength and gait training. We report a case of an 8-year male patient with Perthes disease. He was included in the rehabilitation program (physiotherapy and botulinum toxin infiltration), showing very favorable evolution, and could avoid surgery. Given the results found in our study and the review of the literature, we have postulated that a Rehabilitation program in Perthes disease can provide gain in joint range and increased muscle strength, proposing rehabilitation treatment (botulinum toxin infiltration and physiotherapy) as a possible therapeutic option for patients with uncertain prognosis (group B/C and those under 8 years of age) in whom surgical treatment does not offer total guarantee of success (AU)

Glomerulosclerosis segmentaria y focal asociada a policitemia vera / No disponible

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Survival of patients older than 60 years with kidneys transplanted from Spanish expanded criteria donors versus patients continued on hemodialysis.

A retrospective study was performed in patients >60 years of age who had initiated hemodialysis (HD) at our hospital between 2000 and 2005 (n = 211). Of these, 47 were placed on the kidney transplantation waiting list and 164 were excluded and continued on HD. Cadaveric transplantation was performed in 31 patients using an expanded criteria donor organ (TR), while 16 remained on the waiting list (WL). We compared the 12-month survivals of patients in the 3 groups (TR/WL/HD), namely, 97%/78%/75% (P < .045). Survival at 24, 36, 48, and 60 months for TR/HD were 89%/57%; 86%/43%; 79%/32%; and 70%/16% (P < .001). HD patients showed greater comorbidity than TR patients: Charlson index >8 was 67.9% vs 19.4%. A total of 23.7% of patients were excluded solely due to advanced age. We compared survivals among the TR patients vs those excluded only because of age using paired comorbidity (Charlson index <8): 97%/95%, 89%/58%, and 86%/44% at 12, 24, and 36 months (P < .023). We concluded that kidney transplantation with an expanded criteria donor organ in elderly patients was a procedure that provided greater survival than HD for patients excluded from transplantation, for patients on the WL who did not receive a transplant, and for patients excluded solely due to advanced age who showed comorbidity comparable to the transplant recipients. According to our data, elderly patients with low comorbidity should be considered for inclusion on the WL for transplantation.

Hyperamylasaemia in a patient with multiplemyeloma in haemodialysis

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[Major histocompatibility complex class II deficiency]. / Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad.

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome.

Déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad / Major histocompatibility complex class II deficiency

El déficit de expresión de moléculas de clase II del complejo mayor de histocompatibilidad es una inmunodeficiencia primaria combinada de herencia autosómica recesiva. Presenta mayor prevalencia en los países mediterráneos, sobre todo en el norte de África. La precocidad en el diagnóstico es vital, dada su elevada letalidad en los primeros 2 años de vida, así como su potencial tratamiento mediante trasplante de progenitores hematopoyéticos. Se presenta una revisión de 4 casos mediante la descripción de las características epidemiológicas y clínicas, las pruebas diagnósticas, el abordaje terapéutico y la posterior evolución

Major histocompatibility complex class II deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is highest in Mediterranean areas, especially north Africa. Early diagnosis is essential due to high mortality in the first 2 years of life and the possibility of bone marrow transplantation. We report four cases of major histocompatibility complex class II deficiency and describe their epidemiologic and clinical characteristics, diagnostic tests, treatment and outcome

Neumonía varicelosa en el adulto: estudio de 17 casos / Bacterial pneumonia in adults: study of 17 cases

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Infección perinatal por VIH-1 no esperada / Unexpected perinatal HIV-1 infection

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[Minimal changes nephrotic syndrome associated to penicillamine treatment]. / Síndrome nefrótico por cambios mínimos asociado a tratamiento con penicilamina.

We describe three patients with minimal change nephrotic syndrome associated with penicillamine treatment. Two patients had systemic sclerosis and one had rheumatoid arthritis. Cumulative dose of D-penicillamine was similar in all cases, and nephrotic syndrome appeared after 15-33 months of treatment. The drug was stopped and nephrotic syndrome disappeared in 2-4 months, suggesting a possible causal relationship between penicillamine and minimal change disease.

Differences in the immunological responses in drug- and virus-induced cutaneous reactions in children.

The cutaneous symptoms in non-immediate reactions to drugs are not always clinically distinguishable from those induced by viruses, especially during the early phase of the reaction. Moreover, viral infections and drug reactions often coexist and identification of the etiological agent is necessary. Discerning the differences in the immunological response between both may help in the diagnosis. The aim of this study was to determine possible differences in the immunological response in non-immediate cutaneous reactions to drugs versus cutaneous viral-induced diseases in children. Two groups of children were evaluated: one with non-immediate drug-induced cutaneous reactions (DICR) and another with virus-induced cutaneous reactions (VICR). A third group of children taking the same drugs as the DICR group and with no cutaneous disease or viral infections was included as controls. The lymphocyte markers CD3, CD4, CD8, CD16, CD19, CLA, CD25, CD69, CD45RO, CD45RA were determined by flow cytometry. IL-2, IL-4, IL-5, IFN-gamma, TNF-alpha and IL-10 mRNA were measured by RT-PCR. Data were compared by non-parametric and chi(2) statistical analysis. In DICR group (n=8) the diagnosis was established by temporal association, improvement after drug withdrawal, patch testing, and in some cases by controlled administration. All patients in the VICR group (n=10) were diagnosed based on a positive viral serology: the presence of IgM antibodies or seroconversion of IgG antibodies. There were significant differences between the three groups in peripheral lymphocytes expressing the skin homing receptor CLA (P < 0.01), the early activation marker CD69 (P < 0.001), and the memory (CD3+CD45RO+) (P < 0.02) and naive (CD3+CD45RA+) (P < 0.03) T cell subsets. Children with DICR showed a TH1 mRNA cytokine pattern whereas those with VICR showed a TH0 pattern. In lymphocyte subpopulations from children, differences in the immunological response between DICR and VICR can be detected in the expressions of the activation marker CD69 and the cutaneous homing receptor CLA, and in cytokine mRNA profiles.

[Nijmegen breakage syndrome associated with pulmonary lymphoma]. / Linfoma pulmonar asociado a síndrome de Nijmegen.

Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.