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The article presents an overview of celiac disease, a chronic inflammatory disorder of the small bowel induced in genetically susceptible people by the irritant gluten and possibly by other environmental factors. The symptoms and epidemiology of the disease and of treatments which are commonly used to treat it are discussed. A better understanding of the molecular basis for this disorder which has been achieved and which has improved and enabled the identification of targets for new therapies for it is presented.

Whipple's disease, or intestinal lipodystrophy, is a systemic infectious disorder affecting mostly middle-aged white men. Patients present with weight loss, arthralgia, diarrhoea, and abdominal pain. The disease is commonly diagnosed by small-bowel biopsy; the appearance of the sample is characterised by inclusions in the lamina propria staining with periodic-acid-Schiff, which represent the causative bacteria. Tropheryma whipplei has been classified as an actinomycete and has been propagated in vitro, which allows the possibility of improving diagnostic strategies, for example through antibody-based detection of the bacillus on duodenal tissue or in circulating monocytes. Cell-mediated immunity in active and inactive Whipple's disease has subtle defects that might predispose some individuals to symptomatic infection with this bacillus, which probably occurs ubiquitously. Although most patients respond well to empirical antibiotic treatment, some with relapsing disease have a poor outlook. The recent findings and concerted research might allow development of new strategies for diagnosis, treatment, and monitoring of patients with Whipple's disease. [ABSTRACT FROM AUTHOR]

Presents research which studied lipodystrophy syndrome to develop diagnostic criteria and markers to predict its severity. Lipodystrophy's ties to long-term therapy for HIV-1 infection; Methods; Findings; Tools to use in the diagnosis and rating severity of the syndrome; Factors in predicting severity; Occurrence with protease inhibitor therapy; Commonness of hyperlipidemia and impaired glucose tolerance.

Celiac disease is caused by a genetically determined, specific immune response to antigens in wheat gluten. This immune response may be focused a limited region of the gliadin component of gluten, previous studies have suggested that the generation epitopes for recognition by CD4+ T cells requires deamidation of the protein by tissue transglutaminase. However, it had not previously been shown that epitope peptides could be generated from gluten that these epitopes were selective products of physiological digestion of gluten by tissue transglutaminase. Lu Shan and colleagues have shown that a 33-mer containing known peptide epitopes is generated digestion with intestinal enzymes in vivo and producing a highly stimulatory antigen for T cells. The resulting peptide is resistant to digestion of a gliadin by intestinal brush border and is a highly specific substrate for deamidation transglutaminase. Because the 33-mer peptide present in cereal proteins that do not cause disease, Shan and colleagues suggest that generation of this peptide in vivo underlies the specific association between gluten, immune responsiveness, and transglutaminase in celiac disease. In addition, mer peptide can also be produced by digestion of bacterial prolyl endopeptidases, suggesting possible strategies for generating non-toxic varieties of gluten. It is now important to determine whether 33-mer peptide and this pathway accounts for all recognition of wheat gluten in celiac disease, explore if the tissue transglutaminase homologues found in other organisms can be used to produce preparations of wheat. [ABSTRACT FROM AUTHOR]

Focuses on the lipodystrophy syndromes. Investigation into the cause of generalized congential lipodystrophy, and the possible roles of faulty hypothalamic regulation and the peroxisome proliferator-activated receptor gamma (PPAR-gamma) gene; Therapeutic advances; Common treatments; How identification of the underlying molecular defects of the disease could give insight to more common metabolic diseases such as obesity, diabetes mellitus, and atherosclerosis.

The routine clinical assessment of lipodystrophy in HIV-1-infected patients is hindered by the absence of easy and reliable methods to measure regional fat. We used sonography to measure subcutaneous fat thickness at three reference skin points (periumbilical, brachial, and malar) and intra-abdominal fat thickness in HIV-1-infected patients with and without lipodystrophy and in healthy controls. Patients without lipodystrophy had less subcutaneous fat than uninfected controls. Sonographic assessment of subcutaneous malar and brachial fat in patients with lipodystrophy was more sensitive and specific than that of intra-abdominal fat in the diagnosis of abnormal fat distribution. [ABSTRACT FROM AUTHOR]

Presents a study on the frequency of subclinical coeliac disease, a gluten-sensitive enteropathy and a common cause of malabsorption, which may be indicated by recurrent miscarriages or intrauterine growth retardation. Background; Methods; Findings; Interpretation.

In a random sample of 40 healthy people, 35% showed evidence of Tropheryma whippelii DNA in their saliva. Consistent detection of T. whippelii DNA on repeated sampling suggests that this organism can be an oral commensal. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 48-year-old man with large, red, partly ulcerated cutaneous plaques on the anterior surfaces of his lower legs. The patient had a history of shortness of breath on exertion. Tests indicated sarcoid-;ole granulomas and enlarged mediastinal and hilar lymph nodes, linear opacities on the basal lung fields. A diagnosis of sarcoidosis was made and the symptoms were treated successfully with corticosteroids. Five years after the initial diagnosis, his pulmonary function deteriorated. Tests showed the mediastinal hilar, and auxiliary lymph nodes has enlarged and interstitial lung changes had progressed while bilateral pleural effusions developed. The patient was diagnosed with Whipple's disease and successfully treated.

Discusses the diagnosis and treatment of a 13-month old girl presented with a flaccid paraparesis and an upper respiratory infection. Description of numerous tests performed to determine the cause of her symptoms; Determination that the patient suffered from coeliac disease; How she was treated with a gluten-free diet and the results of the treatment; Examination of a sister which showed the same disease.

Discusses coeliac disease, which is caused by inappropriate immune response to dietary wheat gluten and similar proteins in rye and barley. Genes which may contribute to disease development; How most lesion-derived T cells recognize gluten peptides that are modified by the enzyme transglutaminase.

Presents the medical case of a women with malabsorption who was admitted to the hospital because of increasing mental confusion, disorientation, slurred speech, and a staggering gait. Diagnosis of D-lactic acidosis syndrome; Presence of Lactobacillus delbrueckii; Treatment; Conclusion that the syndrome was precipitated by prior treatment with vancomycin; Information on D-lactic acidosis syndrome.

Presents the case of a 43-year-old man with progressive insomnia for five years. Neurological examination showing vertical gaze palsy; Results of polysomnographic sleep recordings, magnetic resonance imaging, electroencephalography, and cytological examination; Diagnosis of cerebral Whipple's disease; Treatment.

Presents the case of an infant in which phenylketonuria was detected by a routine neonatal screening in 1978. Symptoms; Outcome; Vitamin B12 deficiency with megaloblastic anaemia reported in people with phenylketonuria on protein-restricted diets; Need for health-care workers to know the potential risk of nitrous oxide anesthesia; Those at risk for vitamin B12 malabsorption; Conclusions.

Details the confusing case of a patient who was initially diagnosed with a malabsorption syndrome, and hypothesizes that untreated coeliac disease, vitamin D deficiency, and consequent hypocalcaemia as well as hyperparathyroidism resulted in severe osteomalacia.