Celiac disease

Celiac disease, or gluten-sensitive enteropathy, classically presents as diarrhea and weight loss in childhood, but it may also have protean manifestations and appear well into adult life. The increasing availability of noninvasive blood tests that are highly sensitive and specific for celiac disease enables primary care physicians to recognize the disorder in a wide variety of clinical situations. The authors believe that the disease is more common than supposed and thus offer this diagnostic review to increase awareness.     

Celiac disease: a review

Celiac disease is relatively rare in the United States and many of the facets of this complex disorder are not completely understood. In the gluten-sensitive individual, celiac disease is activated by ingestion of cereal glutens. An abnormal immune system response to dietary gluten causes damage to the small bowel mucosa, which results in nutrient malabsorption. When gluten is removed from the diet, malabsorption resolves. Nursing intervention in celiac disease requires careful nutritional assessment and dietary instruction.     

Celiac disease and autoimmunity: state of the art]

Coeliac disease is probably an immunologic disease of the small intestine which is caused by a gluten intake as promoting agent in genetically predisposed persons. Many authors described this autoimmune assumption: most of coeliac patients carry the HLA type, HLA-DQ (alpha 1 x 0501, beta 1 x 0201) etherodimer; it was found a correlation between disease specific antibodies antigliadin (AGA), antireticulin (ARA) and antiendomysium (AEA). Therefore an increase of autoantibodies and lymphocytes in the blood of coeliacs suggest the autoimmune nature of coeliac disease.     

Celiac disease associated with systemic lupus erythematosus

Celiac disease in children has been occasionally reported to be associated with various disorders such as arthritis, cutaneous vasculitis and diabetes mellitus. We report on a 12-year-old girl with celiac disease, diagnosed at 1 year of age, who developed systemic lupus erythematosus. This association has not yet been reported in children.     

Gaucher disease: four families with previously undescribed mutations

A large-scale sequencing project requires a tool to control the quality of the input data because a sizable number of trace data may be of low quality. If these data are allowed to enter the sequence assembly pipeline, harm will be done. Hence, it is important to detect such data as soon as possible. MTT (Move-Track-Trim) is a software package analyzing the quality of the lanes. It subjects each lane to a series of tests, and if a lane does not pass all tests, it is flagged as a "bad" lane. The use has a chance to examine both the "good" and the "bad" lanes and reclassify a "bad" lane as "good," or vice versa. Alternatively, the user may decide to retrack the gel or get rid of some lanes altogether. As a by-product of the analysis, MTT performs other useful functions. It trims the lanes and compresses the lane files and moves them to the directories where assembly is carried out. It also generates some useful statistics describing the quality of the gel.     

Kennedy's disease: clinical and molecular study of two Italian families

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.     

Schizophrenia as a brain disease: Implications for psychologists and families.

Explains why families of persons with mental illness and members of the National Alliance for the Mentally Ill (NAMI) believe that schizophrenia is a brain disease, and presents evidence for the brain disease model. Etiological models of schizophrenia are discussed and the biopsychosocial model of G. W. Engel (see record 1978-01423-001) was found to be most comprehensive. The merits of different treatments for schizophrenia and rehabilitative models are considered. The concern of NAMI members is to obtain the best treatment possible for mentally ill individuals and that goal can only be achieved with the help of mental health professionals, including psychologists. It is therefore important that psychologists and NAMI members communicate and understand each other. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Can purchasing alliances adapt?

Hospital purchasing alliances' niche used to be buying products in bulk and passing on the savings to their members. Since multihospital networks often have enough economic clout to cut their own deals, alliances need to be more than go-betweens.     

Unverricht-Lündborg disease: clinical and electrophysiologic study of 19 Maghreb families

We describe clinical, electrophysiological and genetic features in 44 patients with Unverricht-Lündborg disease from 19 families living in North African countries (Tunisia, Algeria and Morocco). The mean age of patients was 25.3 years; mean age was at onset 11.3 years. The disease began more frequently with seizures (91 per cent) or myoclonus (80 p. 100) than ataxia (16 p. 100). Subsequently myoclonus and generalized seizures were present in all patients, cerebellar signs were absent in four cases. EEG findings included normal background activity (90 p. 100), spontaneous fast generalized spikes (93 p. 100) and photosensitivity (70 p. 100). Antiepileptic polytherapy (clonazepam and/or phenobarbital and/or valporic acid) was used in 84 per cent of cases. Antiepileptic drugs were more effective in controlling epileptic seizures (less than one seizure/month in 60 p. 100) than myocloni which persisted daily in 64 p. 100 of cases. Mean duration of the disease was 13.5 years. One patient died of status epilepticus. Consanguinity was noted in 17 families (first degree in 15 families). Linkage to chromosome 21q 22.3 was confirmed in 11 families. We noted an inter and intrafamilial variability of clinical signs and disease course.