Implicación de los quistes de la glándula pineal en la patogenia de la pubertad precoz central / Relationship between pineal cysts and central precocious puberty

Objetivo: Describir las características clínicas de casos con asociación de pubertad precoz central (PPC) y quistes pineales, ya que se desconoce la relación causal entre estas. Método: Estudio observacional, multicéntrico y retrospectivo de pacientes con PPC en los que se detectó un quiste de glándula pineal. Resultados: Se presentan cuatro niñas entre 2–7 años diagnosticadas de PPC, sin otros antecedentes y con el hallazgo de quiste de glándula pineal mayor de 5×5mm en la resonancia magnética cerebral, sin signos de hipertensión intracraneal. En todas se frenó el avance puberal de manera efectiva con análogos de hormona liberadora de gonadotropinas. En 3 casos, el quiste persiste sin cambios en los controles de imagen sucesivos. En el cuarto caso, el quiste desapareció tras 4 años de seguimiento. Comentarios: Se revisa la epidemiología y la evolución clínica de los quistes pineales benignos, así como los diversos mecanismos que pretenden explicar su asociación con la PPC (AU)

Objective: To describe clinical characteristics of patients with central precocious puberty (CPP) and pineal cyst, whose causal relationship remains unknown. Method: An observational, multicentre, and retrospective study of patients with CPP and pineal cyst was carried out. Results: We recorded four girls, aged between 2–7 years, diagnosed with CPP, without other medical problems, with the finding of an asymptomatic pineal cyst bigger than 5×5mm in Magnetic Resonance Imaging (MRI). All of them were treated with GnRH agonists with regression of pubertal symptoms. Three of the patients had no changes on pineal cyst follow up with successive imaging. In the other, the pineal cyst disappeared after four years. Comments: We review the epidemiological data and clinical evolution of pineal cysts and the possible mechanisms involved in central precocious puberty (AU)

[Relationship between pineal cysts and central precocious puberty]. / Implicación de los quistes de la glándula pineal en la patogenia de la pubertad precoz central.

OBJECTIVE: To describe clinical characteristics of patients with central precocious puberty (CPP) and pineal cyst, whose causal relationship remains unknown. METHOD: An observational, multicentre, and retrospective study of patients with CPP and pineal cyst was carried out. RESULTS: We recorded four girls, aged between 2-7 years, diagnosed with CPP, without other medical problems, with the finding of an asymptomatic pineal cyst bigger than 5 x 5 mm in Magnetic Resonance Imaging (MRI). All of them were treated with GnRH agonists with regression of pubertal symptoms. Three of the patients had no changes on pineal cyst follow up with successive imaging. In the other, the pineal cyst disappeared after four years. COMMENTS: We review the epidemiological data and clinical evolution of pineal cysts and the possible mechanisms involved in central precocious puberty.

Síndrome de Aarskog-Scott. A propósito de un caso con identificación molecular de la mutación génica / Aarskog-Scott syndrome. About a case report with molecular identification of the gene mutation

El síndrome de Aarskog-Scott, o displasia faciodigitogenital, fue descrito en 1970 por Aarskog. Es una entidad con herencia recesiva ligada al cromosoma X, con una amplia heterogeneidad genética, ya que se han descrito casos compatibles con la transmisión autosómica dominante o semidominante ligada al cromosoma X con expresión parcial en mujeres portadoras. Presentamos el caso de un paciente con datos clínicos compatibles con esta entidad, así como el estudio molecular realizado en él y en su madre, en quienes se encuentra una mutación (c.527insC) en el exón 3 del gen FGD1 (Xp11.21). Las mutaciones referidas hasta la fecha son específicas de un caso particular o familiar. Es importante conocer las diferentes mutaciones encontradas en las distintas poblaciones para intentar establecer una relación genotipo-fenotipo (AU)

The Aarskog-Scott syndrome (SAS) or faciodigitogenital dysplasia was described in 1970 by Aarskog. It is an entity with recessive heredity bond to X with broad genetic heterogeneity as compatible cases are with dominant or semi dominant autosomal transmission bond to X with partial expression in female carriers. We describe a patient with clinical data compatible to the entity and the molecular study performed to him and to his mother in which there is a mutation (c.527insC) in exon 3 of FGD1 gene (Xp11.21). The mutations known up to date are specific of a particular or family case. It is important to know the different mutations identified in different populations to try determining a phenotype-genotype relation (AU)

Parkinsonismo y lesión putaminal por intoxicación por metanol / Parkinsonism and putaminal lesion by methanol poisoning

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[Detection of HIV antibodies in saliva using a rapid diagnostic immunoenzyme assay]. / Detección de anticuerpos anti-VIH en saliva con un enzimoinmunoensayo de diagnóstico rápido.

The usefulness of an enzyme-immunoassay (EIA) monotest (TESTPACK HIV-1/HIV-2, ABBOTT) was evaluated in the rapid diagnosis of anti-HIV antibodies in whole saliva in an intravenous drug abuser population (IVDA). Anti-HIV antibodies were simultaneous and prospectively measured in serum and whole saliva from 70 IVDA patients. To improve the sensitivity of the test 100 microliters of saliva were added instead of the recommended serum volume. In the 35 seropositive subjects saliva yielded a distinct positive result (Sensitivity=1), and in the 35 seronegative subjects a negative result (Specificity = 1). A statistically significant association between serum and saliva antibody levels was observed. These findings show the usefulness of a EIA monotest with whole saliva as an alternative sample to serum in the measurement of HIV-antibodies in high-risk patients.

[Serology of the human immunodeficiency virus in saliva]. / Serología del virus de la inmunodeficiencia humana en saliva.

BACKGROUND: The presence of immunoglobulins in saliva has allowed it to be proven that they are specific against certain antigens. Antibodies to the human immunodeficiency virus (HIV) have been observed in saliva. The aim of this study was to evaluate the detection of the same by commercial enzymoinmmunoassay (EIA) and standardize the technique. METHODS: In 78 intravenous drug user patients the presence of antibodies against HIV in serum and saliva were determined by recombinant EIA (Abbott HIV-1/HIV-2 recombinant EIA). The determinations in saliva were made taking volumes of 10 and 50 microliters. RESULTS: In 43 patients the presence of antibodies against HIV-1 was demonstrated in serum, 42 of which were positive in saliva in the determination with 50 microliters and 16 with 10 microliters. No false positives were reported. With the use of 50 microliters of saliva the test showed a sensitivity of 0.98, specificity of 1, predictive value of a positive result of 1, predictive value of negative result of 0.98 and diagnostic efficacy of 0.99. CONCLUSIONS: The determination of antibodies against HIV in saliva in intravenous drug users is a highly sensitive and specific method with the use of volumes of 50 microliters in the tests.

[Tuberculosis and HIV infection. Evaluation of 132 cases]. / Tuberculosis e infección por VIH. Evaluación de 132 casos.

Tuberculosis is currently one the more frequent opportunistic infections in patients infected by Human Immunodeficiency Virus (HIV) in our setting. Its extrapulmonary localization is considered as diagnostic of the Acquired Immunodeficiency Syndrome (AIDS). We have evaluated the epidemiological, clinical, microbiological, histological and immunological characteristics of 120 patients in the Asturias region who had a tuberculosis diagnosed in any localization, during the period between 1984 and 1991, belonging to a series of 570 patients infected by HIV. Pulmonary types were comparatively analyzed to the extrapulmonary and disseminated ones. Tuberculosis was pulmonary only in 44 occasions (PT), in 36 it was extrapulmonary (EPT) and in 52 disseminated (DT). The more frequent risk factor for the HIV infection was the parenteral consumption of drugs (78.8%). The final diagnosis was microbiologic in 81% of the cases, while bacilloscopia was positive in 62% of the cases. The histologic study showed the presence of granulomas in 86% of the tissues studied and necrosis in 81%. EPT and DT were related with a worse immune situation, bigger mortality rates attributed to tuberculosis and worse survival (p 0.069). Tuberculosis in patients infected by HIV appears mainly in CDVP, being its symptoms the normal ones; but extrapulmonary forms are clearly predominant and within this group those with a ganglionar localization. Normal diagnostic procedures yield a good result. EPT and DT are significantly related to a more severe immunodeficiency in comparison with PT. Survival and prognosis are better in the PT group.

[Necrotic leukoencephalitis, a new infrequent form of presentation of HIV encephalopathy]. / Leucoencefalitis necrotizante, una forma infrecuente de presentación de la encefalopatía por VIH.

A case of a female infected by HIV whose first manifestation was a focal defect of the motor function caused by a brain lesion shown in the CT scan and NMR as a hemispheric mass with discreet expansive effect and central necrosis. The histologic study showed a necrotic leukoencephalitis related to HIV as etiologic agent. We point out the difficulties in diagnosing and treating this disease.

[Simultaneous acute infection with human immunodeficiency virus and cytomegalovirus]. / Infección aguda simultánea por virus de inmunodeficiencia humana y citomegalovirus.

2 cases of simultaneous acute infection caused by HIV and CV that showed clinical features of infectious mononucleosis with spontaneous resolution and good evolution is presented. After 12 months following them up, both are symptom free carriers of HIV and without clinical features of CV infection. These cases had a good evolution, which is contrary to what is described in other medical literature.

[Short-term treatment of meningococcal infections]. / Tratamiento de corta duración en las infecciones meningocócicas.

Based upon our previous experience on the treatment of meningococcal infections with satisfactory evolution when the fourth day of therapy was finalized and taking into account published experiences with four or less days of therapy, we realized a study on the efficacy of a four days therapy when venial meningococcal infections but of seven days when the serious ones. The results obtained were like the former ones we published concerning to death rate but having inferior number of complications. The results of our study suggest that meningococcal infections may be successfully treated according to seriousness, with a four or seven-day course of intravenous penicillin G (300,000 UI/kg/day) distributed in six "aliquots" each four hours. The possibility of a four-days therapy, not taking into account seriousness, is considered for every meningococcal infections.