Microscopic polyangiitis: a case report]

Vertebral osteomyelitis arising from an enteric fistula in patients with inflammatory bowel disease is rare. We report on a patient with Crohn's disease who developed an enteric fistula, resulting in a presacral abscess and vertebral osteomyelitis involving the L4 and L5 vertebral bodies and related disc spaces. This was managed by a defunctioning colostomy with drainage of the pre-sacral abscess. The vertebral lesion was successfully managed non-operatively.     

Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease

A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes. Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion. This rare association further illustrates the variable phenotypic expressions of WHD.     

Polyarthritis with perinuclear antineutrophil cytoplasmic antibody inaugurating microscopic polyangiitis. Report of a case

The prevalence of, and clinical risk factors associated with, vancomycin-resistant enterococcal colonization were investigated in patients suspected of having Clostridium difficile infection. Stools submitted for C difficile cytotoxin testing were screened for vancomycin-resistant enterococci (VRE). Isolates were speciated and characterized further by antibiotic susceptibility testing, DNA fingerprinting, and DNA:DNA hybridization for detection of specific vancomycin resistance genes. Of the 79 evaluable patients identified during a 3-month period, 16.5% were VRE-positive. The VRE isolates were genetically heterogeneous, although all carried the vanA gene. DNA fingerprinting data suggest that patient-to-patient transmission occurred, implicating colonized patients as potential reservoirs for VRE transmission. A positive C difficile cytotoxin assay and diabetes mellitus were the only identifiable risk factors associated with VRE colonization. Patients at risk for C difficile infection therefore may serve as reservoirs for VRE.     

The production effect: Delineation of a phenomenon.

In 8 recognition experiments, we investigated the production effect—the fact that producing a word aloud during study, relative to simply reading a word silently, improves explicit memory. Experiments 1, 2, and 3 showed the effect to be restricted to within-subject, mixed-list designs in which some individual words are spoken aloud at study. Because the effect was not evident when the same repeated manual or vocal overt response was made to some words (Experiment 4), producing a subset of studied words appears to provide additional unique and discriminative information for those words—they become distinctive. This interpretation is supported by observing a production effect in Experiment 5, in which some words were mouthed (i.e., articulated without speaking); in Experiment 6, in which the materials were pronounceable nonwords; and even in Experiment 7, in which the already robust generation effect was incremented by production. Experiment 8 incorporated a semantic judgment and showed that the production effect was not due to “lazy reading” of the words studied silently. The distinctiveness that accrues to the records of produced items at the time of study is useful at the time of test for discriminating these produced items from other items. The production effect represents a simple but quite powerful mechanism for improving memory for selected information. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Acute acalculous cholecystitis associated with common hepatic duct obstruction: a variant of Mirizzi's syndrome

A variation of Mirizzi's syndrome is described in which common hepatic duct obstruction occurs due to extrinsic compression by an acutely inflamed acalculous gallbladder abutting the common hepatic duct. This case suggests that extrinsic compression and inflammation in the absence of stones can result in complete obstruction of extrahepatic biliary flow.     

Investigation of a synthetic peptide as immunogen for a variant epidermal growth factor receptor associated with gliomas

We have previously demonstrated antibody production to a glioma-associated variant form of the human epidermal growth factor receptor in rabbits that had received a synthetic peptide mimicking the unique primary structure of the variant protein as immunogen. We report here the response of mice, rabbits, goats, and macaques immunized by various protocols to this peptide. Titers to both peptide- and cell-elaborated variant receptor were measured, and the capacity to recognize the variant receptor in human tumor samples was determined. Within the range of species and strains investigated, we demonstrated a variable species-associated response to the peptide (rabbits > mice > goats > rats > macaques). Rabbits and a single goat produced specific, high titer antibody activity to the variant receptor protein following immunization with peptide alone. Murine titers to the parent protein were not appreciable following peptide immunization alone; additional immunization with variant receptor as expressed on cell membranes was used to boost this response.     

Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred

Urine activity product ratios of uric acid (APRua), sodium urate (APRna), and ammonium urate (APRau), and urinary excretion of 10 metabolites were determined in 24-hour urine samples produced by 6 healthy Beagles during periods of consumption of 4 diets containing approximately 11% protein (dry weight) and various protein sources: a 72% moisture, casein-based diet; a 10% moisture, egg-based diet; a 72% moisture, chicken-based diet; and a 71% moisture, chicken-based, liver-flavored diet. Significantly (P < 0.05) higher APRua, APRna, and APRau were observed when dogs consumed the egg-based diet, compared with the other 3 diets; there were no differences in these ratios among the other 3 diets. Twenty-four-hour urinary excretions of chloride, potassium, phosphorus, and oxalic acid were significantly (P < 0.05) higher when dogs consumed the egg-based diet. Twenty-four-hour urinary excretions of sodium were significantly (P < 0.05) higher when dogs consumed the egg-based diet, compared with the casein-based diet and the chicken-based, liver-flavored diet, but were not significantly different between the egg-based diet and chicken-based diet. Twenty-four-hour urine volume was similar when dogs consumed the 4 diets. Twenty-four-hour endogenous creatinine clearance was significantly (P < 0.05) lower when dogs consumed the casein-based diet; there were no differences among the other 3 diets. Although consumption of all diets was associated with production of alkaline urine, the 24-hour urine pH was significantly (P < 0.05) higher when dogs consumed the egg-based diet.(ABSTRACT TRUNCATED AT 250 WORDS)     

Presence of the variant mannose-binding lectin alleles associated with slower progression to AIDS. Amsterdam Cohort Study

OBJECTIVE: To examine the association between mannose-binding lectin (MBL) polymorphism and progression to AIDS and death in HIV-1 infection. DESIGN AND METHODS: In 131 HIV-1-infected homosexual seroconverters, survival analyses were performed to determine both the association between MBL genotype and time from HIV-1 seroconversion to AIDS and death, and time from AIDS to death. RESULTS: Of the 131 seroconverters, of whom 61 developed AIDS, 76 were typed as homozygous wild-type and 55 as carriers of variant alleles (52 heterozygous and three homozygous variant alleles). A Survival analyses suggested that HIV-1-infected men with the variant alleles progressed somewhat slower to AIDS [relative hazard (RH), 0.62; 95% confidence interval (CI), 0.36-1.10] and death (RH, 0.73; 95% CI, 0.42-1.25). Interestingly, CD4+ T-cell count determined at the moment of AIDS was found to be significantly lower among persons with the mutation (97 x 10(6)/l versus 204 x 10(6)/l; P=0.03). Furthermore, when AIDS-free times before the diagnosis of an opportunistic infection were compared with those preceding a diagnosis of Kaposi's sarcoma, Kaposi's sarcoma diagnosis was more postponed than that of an opportunistic infection (RH, 0.21; 95% CI, 0.05-0.95; versus RH, 0.67; 95% CI, 0.35-1.27). CONCLUSION: Indications for a weak pre-AIDS protective effect of variant MBL alleles were demonstrated.     

A new variant of "subjective" delusional misidentification associated with aggression

Delusional misidentification syndromes are psychotic conditions in which the affected individual experiences delusions of radical change concerning the identity of others and/or of the self. These syndromes may lead to aggression, including serious violence toward others. In this article, we describe and analyze in detail an aggressive individual who suffered from a delusion that physical and psychological replicas of himself existed. We specifically analyze the link between the patient's subjective misidentification delusion and his resulting aggression. Both the roles of phenomenology and biology of delusional misidentification are evaluated as potential contributors of aggression.     

Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy

Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in the glomeruli, and increased concentration of plasma apolipoprotein (apo) E. It is believed that a genetic disorder of apo E may be present and associated with the disease. Three patients with LPG were examined in this study. The patients' DNA sequences were analyzed, and a nucleotide G to C point mutation in exon 4 of the apo E gene was confirmed in each patient. This missense mutation denotes amino acid substitution of the proline residue for arginine residue at position 145 of apo E. This variant (apo E Sendai) may cause a marked molecular conformational change of the apo E. These findings suggest that a novel variant is etiologically related to LPG.     

A novel variant of human Grb7 is associated with invasive esophageal carcinoma

Vitamin A status (umbilical cord retinol levels) of 253 newborns in two public hospitals of Rio de Janeiro showed a high prevalence (55. 7%) of deficiency (retinol levels below 1.05 micromol/L). This rate of vitamin A deficiency (VAD) was independent of other nutritional and anthropometric parameters, such as low birth weight or small for gestational age. These data suggest that newborns can be as vulnerable to VAD as other population groups considered at high risk. They also suggest that special attention should be paid to this group, actually the most vulnerable to the harmful effects of VAD. Hypovitaminosis A should be among the first diagnostic hypotheses when an infant presents with an abnormality     

Anti-Fc gamma receptor III autoantibody is associated with soluble receptor in rheumatoid arthritis serum and synovial fluid

We sought to detect anti-Fc gamma receptor (Fc gamma R) autoantibodies and soluble Fc gamma R in the serum and synovial fluid (SF) from patients with rheumatoid arthritis (RA) and to correlate these serological abnormalities to the polymorphonuclear cell (PMN) activation state. Paired samples of blood and SF were obtained from 33 RA patients as well as blood from 25 normal adults from SF from 20 non-RA patients. Anti-Fc gamma R autoantibodies were assessed by an enzyme-linked immunosorbent assay (ELISA) using recombinant human Fc gamma R as the substrate. Soluble Fc gamma RIII was determined by an ELISA based on the combination of two monoclonal antibodies (MAb). The mean fluorescence intensity (MFI) of complement receptor 1 (CD35) and 3 (CD11b) and Fc gamma RIII (CD16) was evaluated by flow cytometry on the membrane of PMN. IgM anti-Fc gamma RIII activity was present in seven RA sera and five SF, and IgG in eight RA sera and six SF. The average concentration of soluble Fc gamma RIII was 1.80 +/- 3.50 micrograms/ml in RA patients and 0.33 +/- 0.06 micrograms/ml in normal adults (P < 0.05). This was elevated in the SF of 15 RA, while normal in that of all the non-RA patients. There was an inverse correlation between the CD16 MFI on the PMN and the serum/SF soluble Fc gamma RIII level, whereas the density of CD35 and CD11b was markedly augmented. Anti-Fc gamma RIII activity exists in RA patients, associated with soluble Fc gamma RIII. PMN activation could be due to these autoantibodies and thereby obviate the clearance of immune complexes.     

Multi-dimensional treatment planning: I. Delineation of anatomy

We discuss the scope of a multi-dimensional treatment program designed to assist in planning radiation therapy. It includes: synthesis of diagnostic information; techniques for the assessment and delineation of anatomy; fully three-dimensional simulation of therapy; calculation and assessment of dose distributions; verification of treatment delivery; and assessment of the patient during and after treatment. In this paper we present details of techniques for the assessment and delineation of anatomy, including the display of CT information in three dimensions and the ability to draw on and edit the image displays.     

Identification of alloantibodies associated with an autoantibody: profile of 2 quality control programs in French blood transfusion facilities

Aroma release from a cream style dressing, consisting of a thickening agent dispersed in the water phase of an oil in water (o/w) emulsion, has been studied by a purge-and-trap (PT) and a dynamic headspace mastication (DHM) model using two representative volatile compounds, viz. diacetyl and 2-heptanone. These isolations have been carried out from three systems: the dressing, the thickening agent dispersion and the o/w type of emulsion after adding different volumes of artificial saliva. Dilution of the samples with artificial saliva influences the amounts released for diacetyl and 2-heptanone differently: diacetyl decreases upon dilution of the thickening agent dispersion, emulsion and dressing. However, the amount of released 2-heptanone decreased only in the case of the thickening agent dispersion. These differences are caused by the distribution of diacetyl and 2-heptanone between the water and the oil phases. The distribution is not so important, when the DHM model is used for the release from dressings. The viscosity of the mixture of dressing and artificial saliva then plays an essential role. In general, the viscosity is considered to suppress the release of flavour. However, it has been found that the amount of volatile compounds released from the more viscous dressing was greater than from the emulsion. Most probably, the DHM model creates a large surface area by adhesion of the dressing on the wall of the sampling flask and the plunger head. This result suggests that the DHM equipment, which mimics the mouth movement, might be used to predict the real release of flavour in the mouth more precisely than other mouth models.     

A variant form of hypobetalipoproteinaemia associated with ataxia, hearing loss and retinitis pigmentosa

A six-year-old Japanese boy had ataxia, mental retardation, peripheral neuropathy, proximal myopathy, hearing loss, retinitis pigmentosa and deficiencies in apolipoprotein AI, B, CII and CIII. His clinical features except for hearing loss resembled those of abetalipoproteinaemia or symptomatic hypobetalipoproteinaemia, but his apolipoprotein abnormalities were distinct from these disorders. He had apolipoprotein B-100 with a normal molecular weight. Although most of his neurological manifestations were compatible with those of vitamin E deficiency, their early onset and the presence of hearing loss was unusual for that condition. There has been slight deterioration of ataxia during two years follow-up despite high-dose vitamin E supplementation. Other abnormalities in lipid metabolism might be associated with the neurological damage in this case.     

Chondrocalcinosis is a feature of Gitelman's variant of Bartter's syndrome. A new look at the hypomagnesemia associated with calcium pyrophosphate dihydrate crystal deposition disease

The occurrence of chondrocalcinosis in patients with Bartter's syndrome has been reported as a typical example of hypomagnesemia-associated calcium pyrophosphate dihydrate crystal (CPPD) deposition disease. However, hypomagnesemia is a feature of Gitelman's variant of Bartter's syndrome, whereas serum magnesium levels are normal in Bartter's syndrome strictly speaking. We managed four patients with chondrocalcinosis and hypomagnesemia who met criteria for Gitelman's disease, including hypomagnesemia, hypokalemia with normal or high urinary potassium excretion, hypocalciuria, and normal blood pressure. Based on our experience with these patients, we argue that many cases of chondrocalcinosis and hypomagnesemia ascribed in previously published articles to Bartter's syndrome were due to Gitelman's syndrome.     

Treatment of insomnia using a variant of systematic desensitization.

Describes the treatment of a case of severe insomnia. The treatment, a variant of systematic desensitization, was short and apparently quite successful. The primary difference between usual desensitization procedures and those employed in this case was the absence of a fear hierarchy. A trainee-O was present during several training and early therapy sessions. He observed 2 therapy sessions and then became the therapist. He was directly supervised for 2 more therapy sessions and then continued treatment singly. The case illustrates the flexibility of behavior therapy in both procedural variations and in training of therapists. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Amh, a Bombay variant with cryptantigen H

Untreated red cells of the Bombay variant Amh have traces of A. They are Le(b)-positive but H-negative. Following RDE-(Receptor destroying enzyme) treatment H is demonstrable by anti-HLa, -BHEe, and -HUe but not by anti-HLt. This type of reaction resembles that in O-newborns: H is present only in the form of a glycolipoid but not in the form of a mucoid. The barrier of neuraminic acid prevents recognition of H as his own. Anti-H is present. It has been shown that H as a precursor is necessary only for A1 but not for Am, A3, and A2.     

Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatology of schizophrenia

AIMS: To investigate the prevalence of lymphocytic gastritis in patients with coeliac disease. METHODS: Gastric biopsies from 70 patients with coeliac disease were examined by light microscopy for the presence of lymphocytic gastritis, defined as 25 or more intraepithelial lymphocytes/100 gastric columnar epithelial cells. RESULTS: Lymphocytic gastritis was found in seven cases. Positive cases had a mean of 32.1 intraepithelial lymphocytes/100 columnar cells, compared with a mean of 13.9 in negative cases, and 5.15 in noncoeliac controls. No differences were found for age, sex, gastric corpus or antrum, or degree of inflammation in the gastric lamina propria. All intraepithelial lymphocytes were of T cell lineage. Cases not showing lymphocytic gastritis did however show significantly increased gastric intraepithelial lymphocytes compared with non-coeliac controls. Eighteen of 70 cases were positive for Helicobacter pylori, and four of seven cases of lymphocytic gastritis were H pylori positive; no significant difference was observed between H pylori positive and negative patients. Three cases had concomitant ulcerative enteritis, of which none showed lymphocytic gastritis, while five cases had concomitant enteropathy associated T cell lymphoma, of which one showed lymphocytic gastritis. CONCLUSIONS: Lymphocytic gastritis occurred in 10% of patients with coeliac disease. Cases without lymphocytic gastritis nevertheless showed increased gastric intraepithelial lymphocytes. Coeliac disease may on occasion be a diffuse lymphocytic enteropathy occurring in response to gluten. Lymphocytic gastritis outside coeliac disease may involve an immune response to luminal antigens, such as H pylori, not unlike the response to gluten in patients with coeliac disease.