Revista Médica Internacional sobre el Síndrome de Down最新文献

Allergic diseases have a genetic basis (atopy), meaning that inheritance is a determining factor in the development of these processes. Respiratory pathologies are the most common, although reactions to foods and drugs also occur. The most common clinical manifestations occur in the skin and digestive tract, and generalised reactions (anaphylaxis) can often occur that can be severe or even fatal. The increase in respiratory pathologies in recent years has been linked to a reduction in infectious diseases in developed countries. The activity of Th1/Th2 lymphocytes has become imbalanced, leaning towards the Th2 that are responsible for producing antibodies against allergens (“hygiene hypothesis”). In spite of this, children with trisomy 21, with the wide gamut of altered genes responsible for many of the processes associated with this syndrome, rarely suffer from allergic diseases. This is reflected in the small number of publications on this field. In contrast, immune response to pathogens is constantly affected (greater incidence of infections requiring the production of specific antibodies produced by Th1 lymphocyte activity) along with other processes (auto-immune, leukaemia) related to patient immunity, and this could be the cause of the reduced possibility for allergic reactions.

People with a learning disability are living longer. This increased longevity brings with it the conditions of older age including dementia. Amongst people in the general population who have dementia there is inadequate pain recognition and treatment^1–4. Limited research has been undertaken on the pain management needs of people with a learning disability who have dementia, yet they will experience high levels of physical health needs that will, as a consequence, result in pain^5,6.

The research study ‘Responding to the Pain needs of People with a Learning Disability and Dementia’⁷ explored the detection, management and understanding of pain amongst a range of professional groups involved in supporting people with a learning disability who have dementia. The study also recorded the experiences and views of some people with a learning disability who had dementia.

The dilemmas and obstacles to effective pain management were explored. It was found that the pain experiences and management of people with a learning disability who have dementia mirrored findings in the general population. The research did, however, identify extra and compounding issues in relation to people with a learning disability. Drawing on this research this article outlines recommendations for practitioners and service providers and discusses the key lessons for responding more effectively to pain in people with Down’s syndrome and dementia.

This article is about healthcare for infants and toddlers between 0 and 6 years with different types of organic, psychological or social difficulties. It outlines some specific fundamentals with regards healthcare for infants and toddlers, lines of research and current healthcare issues.

Introduction and objective

Down syndrome bears a known predisposition to childhood leukemia. In regards to acute lymphoblastic leukemia (ALL), most international groups show poorer results when compared to non-Down patients.

Patients and methods

With this study we analyze the results obtained with Down syndrome patients and ALL younger than 18 years who were treated with SHOP (Spanish Pediatric Hematology and Oncology Societies) protocols for the past decade.

Results

Current data obtained from 1000 patients out of 32 centers confirm several aspects: those are related to acute leukemia showing clinical and biological low risk treats, thereof they may be categorized in low risk groups hence receive scheduled chemotherapy of moderate intensity. However, the number of infectious and toxic complications is greater than those for non-Down patients, therefore both overall survival (OS) and event free survival (EFS) are markedly affected.

Conclusions

The future aim is to optimize the knowledge on biological aspects of these leukemia, in order to determine those features to be acted upon to improve their outcome.

Introduction

The emotional sphere and its relationships with sexual identity and awareness of disability in a person with Down's syndrome (DS).

Case report

25-year-old woman with DS who has a psychotic episode with delusions when a tubal ligation is being considered. The condition arises due to a conflict between sexuality and identity.

Discussion

People with Down's syndrome can undergo unharmonious development or remain anchored in previous evolutionary stages. This situation, together with difficulties to symbolise, can lead to psychotic mental disorders, as in this case.

John Langdon Down first described this genetic disorder known today as Down syndrome (DS), due to a trisomy of chromosome 21. The frequent appearance of respiratory infections in DS is attributed to structural and functional anomalies of the respiratory system, the presence of congenital heart malformations and IgG deficits.

We present three clinical cases of adult DS patients with community-acquired pneumonia, and a review of the literature regarding: epidemiology, prevalence, symptomatology, laboratory and radiographic findings, morbidity, mortality, clinical evolution and the importance of prevention of pneumonia in DS patients. These patients presented symptoms of acute infection of the lower respiratory tract: high fever, scanty productive cough with or without sputum, pleuritic chest pain, dyspnea, fatigue, myalgia, and other atypical symptoms. Chest radiography showed focal inflammatory condensation in the affected lung and bilateral alveolo-interstitial infiltrate. Laboratory tests showed increased values of leukocytes and C-reactive protein, deficiency of IgG and low lymphocyte CD4+.

Patients with DS are highly susceptible to lower and higher respiratory tract infection. Community physicians should take exceptional precautions on detecting respiratory symptoms in these patients, since they may result in pneumonia and bronchopneumonia. Presentation may be atypical and the complications may even lead to mortality.

Introduction and objective

Individuals with Down syndrome (DS) are a major risk group for coeliac disease (CD). The aim of this study is to find differences in the CD profile in this group in order to take a different medical approach.

Patients and methods

This observational, descriptive and comparative study included 81 patients aged under 15 years monitored between January 1999 and December 2008. Patients were divided into two groups, a first group including 28 children with CD and DS, and a second age- and sex-matched group of 53 children with CD and no DS. Retrospective data from medical records were analyzed.

Results

There were no statistically significant differences in age at diagnosis, clinical presentation, symptoms at diagnosis, body measurements, serological markers and histological data. Members of the DS group were significantly likelier to have no family history of CD or an association with autoimmune thyroiditis. Breastfeeding was initiated less frequently in the DS group, and the introduction of gluten was significantly delayed. The genetic study showed a significantly high frequency of the DQ8 heterodimer in patients with SD.

Conclusions

The clinical profile of CD in children with DS appears to be similar to that for children without this condition. The risk heterodimer distribution in DS individuals in this series differs from published data. Some nutritional features in this population could entail new risk factors that might trigger the onset of CD.