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HH Patients (hh + patient)

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Medical Sciences	100%

Selected Abstracts

Home Hemodialysis: Associations with Modality Failure

HEMODIALYSIS INTERNATIONAL, Issue 1 2003
BA Young
Purpose: To determine risk factors for home hemodialysis (HH) failure. Methods: We conducted a prospective study from 12/2000 to 9/2002 using data from the 1709 patients who received renal replacement therapy at the Northwest Kidney Centers (NWKC). Prevalent and incident Home Hemodialysis (HH) patients were included in the analysis. Baseline demographics, date of entry and date of exit from HH were ascertained for all patients. Differences among groups were assessed by independent t-test for continuous variables and by chi-squared test for categorical variables. Risk of HH failure was assessed with logistic regression. Results: Of the 116 patients who initiated training in the NWKC HH program (6.8%), 77.7% remained in the HH program, 10.3% received a transplant and 10.3% returned to in-center dialysis. Compared to patients who received a transplant or returned to in-center dialysis, HH patients were more likely to be older (65 vs. 54 yrs, P < .05) and were on dialysis longer (3.8 ± 4.7 vs. 2.3 ± 3.0 yrs, p < 0.05). Ethnicity, gender, primary renal disease and helper status were similar between groups, and were not associated with increased risk of HH failure. Unadjusted 3-year mortality was 31.7% for HH patients. HH patients who died were more likely to be older (p < 0.05) and to have diabetes (P < 0.01) than those who returned to in-center dialysis or who received a transplant. Conclusions: In HH patients, older age but not ethnicity, gender or helper status was associated with treatment failure. Older age and diabetes remain risk factors for mortality in the HH population. [source]

Iron-overload and genotypic expression of HFE mutations H63D/C282Y and transferrin receptor Hin6I and BanI polymorphism in German patients with hereditary haemochromatosis

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 3 2000
R. Gottschalk
Gene variations of HFE, a HLA-class I like molecule, are highly associated with hereditary haemochromatosis (HH). Functional as well as molecular studies of the HFE protein have indicated that the molecule is involved in iron metabolism and that the HFE gene variations observed among HH patients affect its interaction with the transferrin receptor (TfR). In the present study, we have therefore analysed the relationship between the HFE gene variants, C282Y and H63D, and body iron status among 85 German HH patients. In addition, two TfR gene polymorphism, TfR-Hin6I and TfR-BanI, were typed that have been reported to define ethnically distinct haplotypes. As controls we used 251/159 healthy German blood donors. Seventy-eight (92%) patients were C292Y homozygous, the H63D mutation was present in five (6%) patients with none of the patients being H63D homozygous. Serum transferrin, transferrin saturation and liver iron content were determined prior to therapeutic intervention. Among C282Y homozygous patients serum ferritin levels (2294 ± 3174 vs. 463 ± 224 µg L,1, P < 0.0001) and transferrin saturation (86 ± 18% vs. 62 ± 25%, P = 0.048) were elevated significantly compared with C282Y and/or H63D heterozygous patients. In addition, the liver iron content (291 ± 165 vs. 138 ± 95 µmol g,1, P = 0.028) and liver iron index (6.4 ± 2.8 vs. 3.2 ± 2.3, P = 0.019) were increased among C282Y homozygotes compared with C282Y heterozygotes. In contrast, no difference was observed between patients and controls regarding the distribution of TfR- Hin6I and TfR- BanI alleles. These data indicate that the iron intake is higher among C282Y homozygous patients compared with C282Y heterozygous or C282Y/H63D compound heterozygous individuals and supports the functional role of the HFE protein in iron metabolism whereas the TfR gene variants seem to have no influence on iron uptake. [source]

Esophageal motility in patients with sliding hiatal hernia and reflux esophagitis

JOURNAL OF DIGESTIVE DISEASES, Issue 2 2002
Ping YE
OBJECTIVE: To study the radiographic and esophageal motility changes that are characteristic of patients with both sliding hiatus hernia (HH) and reflux esophagitis. METHODS: Thirty patients were diagnosed with HH by using gastroscopy. These patients were divided into two groups according to the severity of their esophagitis: group HH1 (grades A and B, n= 18); group HH2 (grades C and D, n= 12). Sliding HH was confirmed by barium meal examination. Radiographic techniques were used to test for spasms and strictures, the coarseness of the mucosa, and to study the types of reflux and clearance. Esophageal pH (24-h), lower esophageal sphincter pressure and the frequency and amplitude of esophageal peristalsis during reflux were also studied. RESULTS: Radiography revealed that the mucosa was coarse in all cases. Eighty percent of patients had sucking reflux and 36.7% had passive clearance. The percentages of total, supine and upright acid exposure times were greater in patients with HH than those in the controls (P < 0.01), but the difference between the HH1 and HH2 groups was not significant. Lower esophageal sphincter resting pressure was less in the HH group than that in the control group (P < 0.05). However, there were no differences in the length of the sphincter among groups. During episodes of acid reflux, the frequency and amplitude of peristalsis, and the percentage of normal primary esophageal peristalsis were all lower in HH patients than in the controls, and the duration of peristalsis was increased relative to that of the controls (P < 0.05). CONCLUSIONS: Sucking reflux and passive clearance are very important in HH. Esophageal acid exposure time does not correlate with the severity of esophagitis. Lowered lower esophageal sphincter resting pressure, decreased frequency and amplitude, and increased duration of esophageal peristalsis during the episode of reflux may play an important role in the pathogenesis of sliding HH. [source]

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin

LIVER INTERNATIONAL, Issue 4 2001
Salvatore Campo
Abstract:Background/Aims: The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete information is available for individuals from the Mediterranean Basin where C282Y homozygotes comprise a smaller percentage of HH cases. In this study we investigated the allele frequency of HFE mutations and the association between HFE mutations and cases of HH in a population from the South of Italy (Sicily and Calabria). In addition, we evaluated a possible association between HFE mutations and either chronic liver disease or type II diabetes. Patients and Methods: Three hundred and twenty-seven individuals (654 chromosomes) were tested for C282Y, H63D and S65C mutations of the HFE gene by restriction fragment length polymorphism. Four had HH, 23 had hepatocellular carcinoma, 100 had chronic liver disease, 100 had type II diabetes, and 100 were healthy controls. Results: Both C282Y and S65C mutations were each detected in one of the 654 chromosomes analysed (allele frequency=0.15%), while H63D change was found in 122 chromosomes (allele frequency=18.6%) and was equally distributed in all the categories examined. One healthy individual had compound heterozygosity for C282Y and H63D mutations. The frequency of C282Y in this Southern Italian sample was the lowest yet reported for a population of European origin. None of the four HH patients was either homozygous or heterozygous for C282Y. Conclusions: In Mediterranean populations from Southern Italy the C282Y mutation occurs sporadically and HFE polymorphisms seem to have little diagnostic relevance. [source]