1/10. Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease).selenium deficiency is a rare cause of cardiomyopathy that may be encountered by the forensic pathologist. selenium deficiency is associated with a cardiomyopathy, myopathy and osteoarthropathy. In asia and africa, dietary selenium deficiency is associated with a cardiomyopathy known as Keshan disease and an osteoarthropathy called kashin-beck disease. Chronic selenium deficiency may also occur in individuals with malabsorption and long term selenium-deficient parenteral nutrition. selenium deficiency causes myopathy as a result of the depletion of selenium-associated enzymes which protect cell membranes from damage by free radicals. We present a case of fulminant heart failure in a middle aged woman with a complex medical and surgical history including documented malabsorption and selenium deficiency. Pathological examination of the heart showed features consistent with Keshan disease.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/10. life-threatening chronic enteritis due to colonization of the small bowel with stenotrophomonas maltophilia.Chronic diarrheal illness and malabsorption are challenging diagnostic and clinical problems. The identification of the causative pathogens that are involved in gastrointestinal infections is often difficult. It took 85 years after the first description of a case of intestinal lipodystrophy by Georg Whipple in 1907 until the causative bacterium was characterized by using molecular genetics techniques. We here report the complicated clinical course of a young patient with chronic diarrhea accompanied by severe, life-threatening malabsorption with extensive weight loss. histology and glucose hydrogen breath test were suggestive of a bacterial overgrowth syndrome in the small bowel, but standard culture-based techniques and serology failed to identify the causative bacteria. Thus, bacterial ribosomal dna (16S ribosomal dna) was extracted from duodenal biopsy samples and analyzed by community fingerprinting and species-specific polymerase chain reaction. stenotrophomonas maltophilia was identified as the cause of chronic infectious enteritis. Only specific long-term antibiotic treatment with co-trimoxazole had a durable clinical effect and led to normalization of 16S ribosomal dna profiles. This case shows the role of rare and uncommon bacteria in refractory and chronic human gastrointestinal infections. Genomic techniques, including 16S-based single-strand conformation polymorphism analysis, will play an increasing role in the diagnosis of chronic infections with facultatively pathogenic bacteria or in the clinical analysis of complex bacterial communities such as the intestinal bacterial microflora. Future enhancements in detection techniques will show that chronic bacterial infections are more frequent as a cause of gastrointestinal malfunction than commonly thought.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/10. Recurrent pericarditis and dermatitis herpetiformis. Evidence for immune complex deposition in the pericardium.Recurrent pericarditis can be associated with many chronic illnesses. Dermatitis herpetiformis is a chronic papulovesicular eruption which is characterized by granular IgA deposits in the dermal papillary tips and associated with a gluten-sensitive enteropathy. We describe the first case of recurrent pericarditis in association with dermatitis herpetiformis. This supposition is supported by exclusion of other possible etiologies and pericardial biopsy which revealed the deposition of IgG, IgA and complement.- - - - - - - - - - ranking = 4keywords = complex (Clic here for more details about this article) |
4/10. A syndrome of immunoglobulin a deficiency, diabetes mellitus, malabsorption, a common HLA haplotype. Immunologic and genetic studies of forty-three family members.Three persons in a kindred of 43 had variable expression of a syndrome consisting of immunoglobulin a deficiency, diabetes mellitus, malabsorption, and a common HLA haplotype. Findings from the proband included life-threatening malabsorption; idiopathic intestinal mucosal atrophy with infalmmation; iga deficiency and antibodies to multiple endocrine organs; insulin-dependent diabetes mellitus; and the major histocomptability antigens HLA-A2, B8, and DW3. In addition to the described syndrome other conditions present in the family include Graves' disease, vitiligo, hypocomplementemia, rheumatic fever, multiple sclerosis, and a high frequency of antibodies to endocrine tissue. Since Graves' disease, diabetes mellitus, and idiopathic Addison's disease have all been described in association with HLS-B8 and DW3, we believe that the occurrence of these diseases in this family suggests that a single immune response gene or gene complex is linked with HLA-B8 and DW3.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/10. Malabsorption and macroamylasemia. Response to gluten withdrawal.A 36 year old woman presented with malabsorption and macroamylasemia. The macroamylase was characterized and shown to be a complex of pancreatic amylase and immunoglobulin a(IgA). The patient had the clinical and histologic features of adult celiac disease, and responded to a gluten-free diet. The macroamylase complex disappeared from the serum after gluten withdrawal, a hitherto unreported finding in the syndrome of malabsorption and hyperamylasemia.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
6/10. Bowel-bypass syndrome without bowel bypass. Bowel-associated dermatosis-arthritis syndrome.A recurrent, episodic illness that occurs in as many as 20% of patients who undergo ileojejunal bypass surgery for morbid obesity has been well characterized and includes inflammatory cutaneous lesions with a histologic appearance like that of neutrophilic vasculitis, a nondeforming polyarthritis, and other systemic manifestations. Current concepts of pathogenesis center on overgrowth of bacterial flora in the bypassed bowel segment with subsequent development of a circulating immune complex disease. We report, for the first time to our knowledge, an identical clinicopathologic syndrome in four patients who have not had jejunoileal bypass surgery. Each patient, however, had other gastrointestinal disease that we believe predisposed to this syndrome, possibly via circulating immune complexes with bowel-associated antigens. We propose the expanded term, bowel-associated dermatosis-arthritis syndrome, to incorporate these new cases. We believe that this is not a rare syndrome and that it is easily distinguishable from other types of cutaneous necrotizing vasculitis.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
7/10. Studies of the pathogenesis of interstitial cystitis, obstructive uropathy, and intestinal malabsorption in a patient with systemic lupus erythematosus.A patient with systemic lupus erythematosus (SLE) is described who displayed the unusual extraglomerular syndromes of interstitial cystitis with obstructive uropathy and severe secretory-type diarrhea with intestinal malabsorption. Pathologic investigations into the nature of these events revealed immunofluorescent deposits in blood vessel walls of the small intestine and urinary bladder. The patient's malabsorption state and cystitis with urinary obstruction regressed with therapy of the SLE. We are postulating that immune complexes from the circulation may deposit in blood vessel walls, and may be responsible for tissue injury in these sites and the clinical manifestations of this patient.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/10. Optic neuropathy associated with vitamin B12 deficiency.A 17-year-old boy with vitamin B12 deficiency that occurred after a small bowel resection developed bilateral centrocecal scotomas during folic acid therapy and improved on therapy including vitamin b complex.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/10. Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects.BACKGROUND & AIMS: Defects in the Na -dependent glucose transporter (SGLT1) are associated with the disorder glucose-galactose malabsorption, characterized by severe diarrhea. This study focused on a unique proband with glucose-galactose malabsorption who was investigated 30 years ago, and the aims of the study were to identify mutations in the SGLT1 gene and to determine the defect in sugar transport. methods: Mutations were identified by sequencing, and each mutant protein was then studied using a xenopus oocyte heterologous expression system. Analysis included Western, freeze fracture, radiotracer uptake, and electrophysiological assays. RESULTS: Two heterozygous missense mutations (Cys355Ser and Leu147Arg) were identified that entirely eliminated Na /sugar cotransport activity. Western blot analysis showed that the levels of both mutant proteins in the oocyte were comparable to wild-type SGLT1, but no complex glycosylation was detected. No SGLT1 charge movements were observed with the mutant proteins, and freeze fracture data showed that neither mutant protein reached the plasma membrane. CONCLUSIONS: The Cys355Ser and Leu147Arg mutations eliminate the Na /sugar cotransport by blocking the transfer of SGLT1 protein from the endoplasmic reticulum to the plasma membrane. This is consistent with earlier studies on phlorizin binding to the brush border membrane of duodenal biopsy specimens from this patient.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/10. Pure red cell aplasia in autoimmune polyglandular syndrome with T lymphocytosis.We report the onset of pure red cell aplasia (PRCA) in a patient with a history of polyglandular syndrome including Addison's disease, malabsorption syndrome, diabetes type I and gastric hyperplastic polyposis. An autoimmune origin for this complex disorder was not supported by the presence of organ specific antibodies, but T cells were found to be of polyclonal origin, as demonstrated by molecular analysis of T cell receptor (TCR) gene rearrangement. The pathophysiology of this case, based on laboratory findings and response to therapy, is discussed.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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