[Parotiditis in Chile: clinical and molecular characterization of two cases in a highly vaccinated population]. / Parotiditis en Chile: caracterización clínica y molecular de dos casos en una población altamente inmunizada.

Mumps virus usually produces a benign infection characterized by increased parotid volume which, prior to vaccination, mainly affected children and adolescents. After the introduction of measles, mumps and rubella (MMR) vaccine, mumps incidence decreased dramatically. This intervention also produced a change in its clinical presentation, moving to young adult patients, with an increased risk of complications. We report two clinical mumps cases in young adults with different clinical presentations. In both cases, serologic assays were assessed and, in one case, a polymerase chain reaction (PCR) was performed in order to confirm the diagnosis. The isolated virus was characterized and identifed as G genotype, the same genotype observed during outbreaks in United States and Europe, and different to the vaccinal strain. Mumps virus is currently circulating in Chile and it is important to be aware of possible outbreaks. Viral diagnosis can be difficult, particularly in populations with high vaccination coverage. Therefore, the access to etiologic study through PCR and serology becomes more relevant in order to optimize clinical management and secondary prevention measures.

Parotiditis en Chile: caracterización clínica y molecular de dos casos en una población altamente inmunizada / Parotiditis in Chile: clinical and molecular characterization of two cases in a highly vaccinated population

Resumen El virus de la parotiditis produce una infección benigna caracterizada por un aumento de volumen parotídeo que, antes de la introducción de la vacuna tres vírica, afectaba principalmente a niños y adolescentes. Luego de que esta vacuna se implementara en el Programa Nacional de Inmunizaciones, se produjo una notable disminución en su incidencia. Además, ocasionó un cambio en la edad y presentación clínica, siendo más frecuente en adultos jóvenes con mayor riesgo de complicaciones. Presentamos dos casos clínicos de parotiditis en adultos jóvenes confirmados por serología y en uno de ellos, por biología molecular. Se caracterizó el virus como del genotipo G, como el descrito en los brotes en E.U.A y Europa, diferente al virus contenido en la vacuna. El virus parotídeo sigue circulando en nuestro país y debemos mantenernos alerta ante eventuales brotes. Se hace relevante optimizar el diagnóstico etiológico por serología o técnicas de biología molecular con fines clínicos y epidemiológicos.

Mumps virus usually produces a benign infection characterized by increased parotid volume which, prior to vaccination, mainly affected children and adolescents. After the introduction of measles, mumps and rubella (MMR) vaccine, mumps incidence decreased dramatically. This intervention also produced a change in its clinical presentation, moving to young adult patients, with an increased risk of complications. We report two clinical mumps cases in young adults with different clinical presentations. In both cases, serologic assays were assessed and, in one case, a polymerase chain reaction (PCR) was performed in order to confirm the diagnosis. The isolated virus was characterized and identifed as G genotype, the same genotype observed during outbreaks in United States and Europe, and different to the vaccinal strain. Mumps virus is currently circulating in Chile and it is important to be aware of possible outbreaks. Viral diagnosis can be difficult, particularly in populations with high vaccination coverage. Therefore, the access to etiologic study through PCR and serology becomes more relevant in order to optimize clinical management and secondary prevention measures.

miR-146a and miR-155 expression in PBMCs from patients with Sjögren's syndrome.

BACKGROUND: An increasing number of studies have revealed that microRNA (miRNA) contributes to the pathogenesis of autoimmune diseases. The objective of this study is to investigate the miR-146a and miR-155 levels in peripheral mononuclear blood cells from patients with primary Sjögren's syndrome (pSS) who were not receiving medications and to examine the correlations between these miRNA levels and the clinical features of the disease. METHOD: Using real-time polymerase chain reaction analysis of miRNAs, the miR-146a and miR-155 expression levels were assessed in peripheral mononuclear blood cells from 27 patients with pSS and 22 healthy controls, and the relationships between these miRNA levels and the visual analog scale (VAS) scores for dry mouth, dry eyes, and parotid gland swelling were investigated. RESULTS: Compared with the healthy controls, the miR-146a expression level was significantly increased in the patients with pSS (P = 0.0182) and was positively correlated with the VAS scores for parotid swelling (r = 0.4475, P = 0.0192) and dry eyes (r = 0.4051, P = 0.0361). Although the miR-155 expression level was significantly decreased in the patients with pSS (P = 0.0131), the miR-155 expression positively correlated with the VAS score for dry eyes (r = 0.4894, P = 0.0096). CONCLUSION: Our results demonstrated miR-146a overexpression and miR-155 underexpression in the peripheral mononuclear blood cells of the patients with pSS. Furthermore, the expression levels of these miRNAs correlated with the patients' clinical features. Our data suggest that miR-146a and miR-155 might play important roles in the pathogenesis of pSS and that their expression levels may be useful for diagnosing pSS and for predicting disease activity and therapeutic responses.

Aprendiendo de los errores: fenómeno EDTA / Learning from errors: EDTA phenomenon

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New insights into juvenile parotitis.

AIM: We inquired about the possibility of a familial trend in juvenile parotitis and evaluated the role of SPINK1 mutations in juvenile parotitis. METHODS: The clinical records of all children admitted to the Helsinki University Hospital during 1995 to May 2003 because of swelling in the parotid gland were reviewed. A questionnaire on possible recurrences and on familial cases was mailed. As disturbances in trypsin inhibition might be involved in the pathogenesis, we assessed the SPINK1 gene encoding for Kazal-type trypsin inhibitor in voluntary patients. The study group comprised 133 children (boys 82 girls 51) with juvenile parotitis. The median age at presentation of first symptoms was 6.0 y (range 1-19 y). RESULTS: Recurrent symptoms in the parotid gland were common (57%), and 29% of the children (38/133) had suffered from four or more episodes. A young age at the first episode of symptoms increased the likelihood of recurrences (p<0.0001). Familial cases of parotid swelling were common (22%; response rate 67%). A total of 47 patients (35%) agreed to testing for SPINK1 status. Four children had a major mutation (N34S or P55S), corresponding to an 8.5% (4/47) prevalence, but this was not different from the controls (5%). CONCLUSION: It is likely that inherited factors are involved in the manifestation of juvenile parotitis in a subset of patients. It is tempting to speculate that disturbed proteolytic balance may play a role in the development of symptoms.

Chronic parotitis: not another SPINKosis.

INTRODUCTION: Pancreatitis and parotitis share several etiological, pathohistological and functional similarities. It arose from recent pancreatitis research that some cases of chronic pancreatitis are associated with mutations of the serine protease inhibitor, Kazal type-1 (SPINK1). We tested the hypothesis that the pancreatitis-associated N34S mutation of SPINK1 is also a risk factor for chronic parotitis. METHODS: Reverse-transcriptase polymerase chain reaction was used to investigate SPINK1 transcription in the parotid gland. Forty-five blocks of formalin-fixed, paraffin wax-embedded tissues with chronic parotitis of unknown cause were analyzed for the SPINK1-N34S mutation. RESULTS: The SPINK1 gene is transcribed in the parotid gland. Two of the 45 patients (4.4%) with chronic parotitis carried the N34S mutation heterozygously. Of 82 healthy blood donors, 3 subjects (3.7%) were identified as carrying this mutation heterozygously (p = 0.83). CONCLUSION: The SPINK1-N34S mutation is not associated with chronic parotitis.

[Chronic recurrent parotitis in childhood in monozygotic twins. Magnetic resonance sialography]. / Chronisch rezidivierende Parotitis des Kindesalters bei eineiigen Zwillingen. Magnetresonanzsialographie.

Recurrent parotitis is rare in childhood. Its occurrence is characterized by recurrent episodes of swelling and pain in the parotid gland, which are usually accompanied by fever and malaise. Inflammation usually resolves spontaneously during adolescence. The disorder is a condition of unknown etiology. Sialectasis and stricturing occurs in the distal ducts, whereas inflammation of the gland and duct epithelium is probably caused by a low salivary flow rate. Which one can be considered the primary event or secondary change remains unknown. The main-stay of diagnosis is sialography, which depicts typical intraparotidal duct system lesions as strictures or ectasias and excludes sialolithiasis. We here report two 10-year-old male monovular twins who suffered from recurrent swelling and pain in only their left parotid glands. Symptoms were noted approximately every 6 weeks in both patients strictly. Characteristic sialectasis of the distal ducts was demonstrated by magnetic resonance-sialography. Our findings support the hypothesis that recurrent parotitis is caused by a congenital abnormality of the salivary gland ducts. Diagnostic imaging was performed by magnetic resonance imaging during the acute phase of the disease. This technique helps to make the diagnosis without retrograde application of a contrast agent.

Autosomal dominant juvenile recurrent parotitis.

Juvenile recurrent parotitis is a common cause of inflammatory salivary gland swelling in children. A variety of aetiological factors has been proposed for the condition. Here we present a family where four members had juvenile recurrent parotitis and where two other family members may have had an atypical form of the condition. The segregation pattern in the family is consistent with autosomal dominant inheritance with incomplete penetrance and this suggests that, at least in some cases, genetic factors may be implicated in juvenile recurrent parotitis.

Infantile recurrent sialectatic parotitis: the role of sonography and sialography in diagnosis and follow-up.

The results of a clinical, sonographic and sialographic study in 10 children (aged 4-10 years) with recurrent sialectatic parotitis are presented. Alteration in the sonographic pattern of the parotid glands, consisting of multiple hypoechogenic areas in the parenchyma, were found in four cases; milder nonhomogeneity was seen in four cases, and an almost normal pattern in two cases. Sonographic follow-up in two children showed a parallel reduction in non-homogeneity with symptomatic improvement. A probable therapeutic action following sialography using fat-soluble contrast medium was observed in four of the 10 children. The familial nature of the disease, which has not previously been described, is documented.

Juvenile recurrent parotitis: clinicoradiologic follow-up study and the beneficial effect of sialography.

In twenty-two children juvenile recurrent parotitis (JRP) was diagnosed on the basis of age at onset, duration of parotid swelling episodes, frequency of attacks, lack of pus formation, and typical sialograms. Age at onset and severity of the disease varied widely. There was a high incidence of upper respiratory tract infection, and in some cases a familial history of JRP was noted. The sialograms revealed acinar and ductal atrophy and severe sialectasis. A dominant feature was impaired glandular function. The follow-up period was notable for a striking decrease in the number of incidents of glandular swelling regardless of the patient's age at the time of his or her first visit to our clinic. Since drug treatment was administered prior to our first examination and no medicaments were prescribed by us, the improvement in the clinical status of the patients is attributed to the sialographic procedures.

Virosis dengue, paratiroiditis y aspirina, en una monstruosidad teratológica

Se presenta un feto multimalformado del sexo masculino que constituye una monstruosidad teratológica, nacido muerto con 2 300 gramos de peso, producto de una gestación a término en un parto transpelviano. Se recogen en la madre incidencia de dengue, parotiditis y terapéutica con aspirina durante la gestación. Se expone resumen de la historia clínica, descripción necrópsica de las malformaciones y la discusión del caso

Associations between polymorphic variety and disease susceptibility in two New Guinea populations.

During the Australian/British IBP studies on KarKar Island and at Lufa in the Eastern Highlands, Papua New Guinea, information was collected on the epidemiology and genetic constitution of the same subjects. Advantage of this special situation has been taken to determine whether any associations exist between the genetic markers and the disease states. Those found and which appear real include Rhesus D(u) with proteinuria; MN with splenomegaly and hepatomegaly; Ss with parotid enlargement; acid phosphatase, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogense and haemoglobin J- Tongariki with presence of malarial parasites; phosphoglucomutase with proteinuria and parotid enlargement; haptoglobin with proteinuria and with splenomegaly and hepatomegaly. These associations are discussed in terms of the probabilities of their arising from heterogeneity in population structure, linkage disequilibrium and pleiotropy.