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Biomedical subjects

M A Martín Mateos

Publications and source records attributed to M A Martín Mateos.

At least 19 recordsLinked to original sources
PubMed2005

Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

Ataxia telangiectasia (AT) is an infrequent condition, which is difficult to diagnose in children. The objective was to describe the evolution of all affected patients controlled in our hospital and to highlight the keys for an early diagnosis considering the variability of immunological disorders. The present study is a retrospective review of all patients diagnosed and controlled of AT in our hospital. Twelve patients were found, including two couples of siblings. The most frequent reason for consultation was unstable gait. Seven patients suffered repeated infections, being pneumonia the most frequent cause of infection, followed by sinusitis. One of the patients developed Burkitt's lymphoma, and another patient, Hodgkin's lymphoma, which caused the death of the patient at the age of 11. A couple of siblings aged 17 and 22 years developed insulin-resistant diabetes mellitus. The most frequent immunity disorders were the IgG deficiency and the decrease of T lymphocytes. Seven patients were treated with non-specific gamma-globulin. By the end of the follow-up, 8 patients (ages ranged 7 to 12 years) lost gait. Molecular genetic testing was conducted in patients who are still cared for in our hospital. Clinical suspicion of this entity will lead to an early diagnosis, the treatment of complications, and to provide genetic counselling for the families.

Ataxia Telangiectasia↗
PubMed1991

Immunological findings in 14 cases of Langerhans cells histiocytosis.

We have studied humoral and cell immunity in 14 children, from 2 months to 15 years old, diagnosed with Langerhans cells histiocytosis who had not received immunosuppressant nor immunopotentiating treatment. At the time of diagnosis, children were found in the following Greenberger clinical stages: stage II (5), stage III (6), stage IV (3). The children in stage II had moderate alterations in immunity, with an increase in IgG, IgM, IgA, increase in T4 lymphocytes and decrease in T8 lymphocytes; the clinical evolution was good. In stage III, normal immunoglobulins were noted in 2 children, an increase in IgG, IgM, IgA in 1; an increase in IgM in 1, a decrease in IgM in 1 and absence of IgA in 1. In all a decrease was found in T8 lymphocytes and the T4 lymphocytes were decreased in 3 and normal in 3; delayed immune response and response to mitogens was decreased in 3. These findings were related to a bad prognosis; 2 children died and another developed chronic disease. In stage IV serious alterations were detected in the immune system with a decrease in IgG, IgM, IgA, an increase in IgE, a decrease in T, B, T4 and T8 lymphocytes and very slight delayed immune response and response to mitogens; the children died.

Adolescent↗
PubMedDate not supplied

Challenge testing in children with allergy to cow's milk proteins.

OBJECTIVES: To evaluate clinical response after challenge testing in infants with allergy to cow's milk proteins at diagnosis and again when these infants were aged 1 year old and had been fed an exclusion diet. MATERIAL AND METHODS: We performed a prospective study of 49 infants aged less than 6 months with a clinical history suggestive of cow's milk protein allergy, positive skin prick test and specific IgE for alpha-lactalbumin, beta-lactoglobulin and casein. In all children challenge test with cow-milk adapted formula was carried out at diagnosis. The same procedures were repeated when the children were aged 1 year but challenge testing was repeated only in children with a negative skin prick test and specific IgE antibodies to cow's milk proteins. RESULTS: At diagnosis, challenge tests produced immediate hypersensitivity reactions in 94% of infants. Late reactivity (i.e., more than 2 hours after challenge) was found in only 6% of infants, all of whom presented dyspepsia. When the infants were aged 1 year, and after results of immunological study were negative, a further challenge test was performed in 24 (49%) of lactating infants included in the study. Of these 24 infants, positive challenge was found in 5 (21%). None of the infants presented immediate symptomatology (clinical features appeared 7 days after the reintroduction of cow's milk proteins). CONCLUSIONS: Ninety-four percent of challenge tests performed at diagnosis provoked immediate reactions. The results of challenge tests after a negative skin prick test in children with normal concentrations of specific IgE were positive in 21% infants, who presented late reactivity (a mean of 7 days after milk ingestion).

Allergens↗
PubMedDate not supplied

[Respiratory syncytial virus infection and asthma].

Presentation of bronchial asthma, in the years following the first outbreak of bronchiolitis due to respiratory syncytial virus (RSV) was first described by McIntosh, who postulated a common pathogenesis that was confirmed by the greater frequency (50%) of wheezing bronchiolitis and asthma during the more than 5 year follow up of these children. More recently, Hibbert and Schroechkenstein have again confirmed this phenomenon. These authors report that the percentage of asthma was increased by up to 71% in a group of children who contracted bronchiolitis during the first year of life and who were closely followed-up for 5 years after the outbreak. Other authors report figures between 25% and 57%. Stein et al. followed-up 888 children with RSV bronchiolitis until the age of 13 years and observed that at the age of 3-5 years 69% had asthma, at 4-5 years 55% did so and at 6-8 years 31% were asthmatic. In our experience of children who developed RSV bronchiolitis before the age of 6 months, 58 of 75 developed infantile asthma in following 3 years. Seventeen infants were aged more than 6 months at onset of bronchiolitis and of these 5 had bronchiolitis. We carried out a prospective study of 50 children aged 3-7 months with RSV bronchiolitis from December 1997 to February 1998. Follow-up was until the year 2000. Of these children, 22 (44%) had asthma and the remaining 28 (56%) had isolated episodes of cough and wheezing, which did not fulfill the criteria for asthma. Of the 22 children with asthma, all presented elevated total IgE by the second year of follow-up but only one of the children presented hypersensitivity to egg. The breathing difficulties that appeared in the initial outbreak of bronchiolitis is well explained by the cytopathic effect of the virus on the airways of infants. RSV virus produces inflammation of the bronchial mucosa, the effects of which may persist for 6-7 weeks, even after recovery from the first episode. The damaged and denuded epithelium provides fertile ground for future viral reinfections which, although less severe, produce dyspnea due to irritation of the exposed vagal receptors. Irrespective of the mechanism involved (RSV, histamine, methacholine or ozone inhalation) inflammation alters the intercellular junctions of the bronchial mucosal epithelium which, even in the absence of significant necrotic lesions, leads to increased penetration of irritants and stimulates the vagal receptors, leading to bronchospasm. In conclusion, it can currently be stated that RSV bronchiolitis constitutes a risk factor for the development of infantile asthma. The risk is increased in children with familial or personal antecedents of atopy. Serious forms of bronchiolitis due to RSV are more frequent in atopic individuals. The appearance of extrinsic asthma is more frequent in children who have previously had RSV bronchiolitis than in those who have not.

Asthma↗
PubMedDate not supplied

PFAPA syndrome: with regard to a case.

BACKGROUND: PFAPA syndrome (Periodic Fever, Aphtas, Pharyngitis and cervical Adenopathies) is one of the causes of periodic fever in pediatrics and it is characterised by high fever, pharyngitis, cervical adenitis and aphtous stomatitis. Its etiopathogeny is unknown. The diagnosis is clinical and the findings of laboratory are unspecified. One or two doses (1 mg/kg) of oral prednisone are enough for a fast resolution of the clinic. It is a benign syndrome and no sequels have been noticed after its disappearance, usually in four years from its beginning. CLINICAL CASE: We present the case of a 10-year-old patient who has been diagnosed of PFAPA syndrome after 3 years and a half of characteristic clinical bouts, with the fulfilment of diagnostic criteria and after having excluded other entities of similar presentation. CONCLUSIONS: Periodic episodes of high fever, pharyngitis and cervical adenitis with a bad response to the conventional treatment should alert us to the PFAPA syndrome. The recognition of this entity will help us to improve the diagnostic and therapeutical focusing, lowering also the anxiety that these cases produce.

Anti-Inflammatory Agents↗
PubMedDate not supplied

Humoral immunity in pediatric patients with acute lymphoblastic leukaemia.

BACKGROUND: Cancer and its treatment are a major cause of secondary immunodeficiency in childhood. Leukaemias are the most frequent pediatric neoplastic diseases and 80 % are lymphoblastic (ALL). The objectives of this study are to describe the epidemiology of children with ALL in our hospital and to analyse the evolution of immunoglobulins' concentration at leukaemia's onset, during its treatment and after finishing it. METHODS AND RESULTS: Retrospective study of patients with ALL treated with the SHOP-LAL-94 protocol. 50 patients were studied. Patients were classified in three groups: ALL- cell line B, ALL-cell line B with relapse, and ALL-cell line T. We analysed clinical data and laboratory results (IgG, IgA and IgM concentration) at leukaemia's onset, during its treatment and until 12 months after it.1. ALL-B: 44 patients. At the onset all patients, but a newborn with congenital leukaemia, had normal immunoglobulins. During treatment there was a significant decrease in immunoglobulins'concentration, being IgM the most affected (65 % of patients), followed by IgG (53 % of patients). The mean normalization time of immunoglobulins was 12 months.2. ALL-B with relapse: 7 patients. At relapse 2 patients had an IgM deficit and 1 overall immunoglobulin deficiency. During treatment there was a decrease in all immunoglobulins, which was significant for IgG. IgG and IgM decreased in all patients during relapse's treatment. There were 5 deaths, all with IgM < 186 mg/L.3. ALL-T: 6 patients, one died 3 days after diagnosis. At the onset all patients had normal immunoglobulins. Two patients had a favourable evolution, having a decrease in immunoglobulins'concentration during treatment, significant for IgM, with normalization 6 months after treatment. The rest 3 patients relapsed and died, having a global immunoglobulins'deficit during treatment and previous to death. CONCLUSIONS: At ALL's onset immunoglobulins' concentration is normal. During treatment the majority of patients have immunoglobulins' deficiency, being IgG and IgM the most affected immunoglobulins. A persistent IgM deficit is associated in our series with a higher risk of relapse and death. In patients with a good outcome immunoglobulins normalize before one year after treatment.

Adolescent↗
PubMedDate not supplied

[Otomastoiditis candidiasica and hyper IgE syndrome].

PATIENT: A 5-year-old girl presented with chronic otorrhea, cervical adenopathies and cellulitis of the knee. In addition to these lesions, physical examination revealed eczema on the scalp, neck, perineal and umbilical regions and the persistence of deciduous teeth with adult teeth (double dental arch). Complementary investigations showed the following concentrations: IgE 23969 UI/l, IgD 440 U/L, IgG 23000 mg/L, and IgA 4220 mg/L. Intradermal skin testing to Candida was negative and the results of the remaining immunological studies were normal. Computerized axial tomography revealed bilateral otomastoiditis. Candida albicans was isolated from ear secretion cultures. The definitive diagnosis was hyper IgE syndrome. The patient responded favorably to antibiotic and antifungal therapy and is currently undergoing period outpatient monitoring.

Bronchitis↗
PubMedDate not supplied

[Recurrent angioedema and hypereosinophilia].

INTRODUCTION: Among the various causes of eosinophilia are the syndrome first described by Gleich in 1984. This syndrome is characterized by angioedema of the face, neck, extremities and trunk, weight gain, hypereosinophilia (60-70%), fever, and increased serum IgM levels without involvement of the vital organs. CASE REPORT: A 17-year-old non-allergic woman was referred to our hospital for further investigation of recurrent angioedema, initially of the hands and feet and subsequently of the face, with onset 3 years previously. The attacks had become more frequent and severe and had occurred monthly in the previous year. The patient also showed general malaise, without fever. Complementary investigations revealed eosinophils 40.8%, total count 3,300/mm3, and serum IgM levels 343 mg/dl (normal range: 53-300 mg/dl). Possible causes of hypereosinophilia and eosinophilic infiltration of vital organs were ruled out. The patient was treated with oral corticosteroids which produced clinical remission and reduction of eosinophil count (1.7%, total 200/mm3). DISCUSSION: Gleich syndrome is uncommon and has well-defined clinical features and a benign course. We describe a patient who presented the clinical characteristics of this syndrome with good response to steroids and without involvement of vital organs. CONCLUSIONS: Our patient presented clinical features compatible with a diagnosis of Gleich syndrome. Other entities associated with hypereosinophilia were ruled out.

Adolescent↗
PubMedDate not supplied

Common variable immunodeficiency, insulin-dependent diabetes mellitus and celiac disease.

Common variable immunodeficiency is a disorder characterised by hypogammaglobulinemia with B-lymphocytes in peripheral blood and repeated infections. We report a child with a diagnosis of diabetes mellitus and celiac disease during lactation, and in whom common variable immunodeficiency was diagnosed at the age of 5. During evolution of the disease he presented multiple respiratory infections in spite of substitution therapy with gamma globulins. He presented pulmonary fibrosis with a pulmonary volume reduced, and a spirometric restrictive patron. Immunologically, he presents reduction in CD4 lymphoid population. He expresses the alleles DQ2 A1 0501 and B1 which are strongly associated with susceptibility to insulin-dependent diabetes mellitus and celiac disease, but don't express antigens HLA class II DR3 and DR4 that are more frequent in these entities. The main disease and all the complications had affected his curve pondostatural.

Adolescent↗