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Objective To investigate the relationship between the genotype and phenotype of erythropoietic protoporphyria (EPP) in a family.Methods Venous blood samples were collected from two patients with EPP as well as their asymptomatic parents and grandmother.PCR was performed to assess the mutation of FECH gene,and real-time quantitative PCR to detect the expression of FECH gene.Results A mutation IVS3 + 1G ＞ A was detected in the two patients and their mother.Haplotype analysis showed that both patients with photosensitivity carried the wild-type low-expressed allele IVS3-48C,while their mother,the asymptomatic carrier,harbored the normal allele IVS3-48T.As real-time PCR showed,the expression intensity of FECH gene gradually increased from patients,asymptomatic patients to normal individuals.Conclusion The difference in expression intensity of FECH gene may contribute to the variability in clinical presentation of EPP.
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ObjectiveTo observe the clinical characteristics and influential factors of pulmonary hypertension (PH) in maintenance hemodialysis (MHD) patients.MethodsOne hundred and two patients with MHD patients whose therapy time were all more than one year were enrolled from June 2008 to May 2009.Pulmonary arterial systolic pressure (PASP) and parameters related with cardiac structure and function were checked out by echocardiography.These patients were divided into two groups according to PASP:PH group[PASP≥35 mm Hg( 1 mm Hg =0.133 kPa)] and non-PH group(PASP ＜ 35 mm Hg).Gender,age,dialysis time,dialysis access and urine volume during dialysis was recorded.The blood biochemistry,parathyroid hormone(PTH),hemoglobin,postdialysis urea nitrogen was recorded too and Kt/V was calculated.ResultsPH was detocted in 26 MHD patients (25.5％,26/102).Right atrium transverse diameter,right atrium long diameter and pulmonary artery internal diameter in PH group [(32.00 ± 8.13),(41.00 ±9.15),(24.38 ± 3.88) mm] were higher than those in non-PH group [(27.44 ± 4.43),(36.45 ±8.88 ),(21.78 ± 2.46) mm] and LVEF in PH group [(55.59 ± 7.88 )％] was lower than that in non-PH group [(59.09 ± 5.69)％] (P ＜ 0.01 or ＜ 0.05).There were significant differences in calcium-phosphorus product,PTH,serum phosphorus and hemoglobin between PH group and non-PH group [(61.36 ± 17.83)mg2/dl2 vs.(53.24 ± 18.28) mg2/dl2,(365.95 ± 178.65) ng/L vs.(287.02 ±209.91 ) ng/L,(2.24 ±0.60)mmol/L vs.( 1.95 ± 0.68) mmol/L,(98.65 ± 25.69) g/L vs.( 114.29 ± 22.31 ) g/L] (P ＜ 0.05 ).Logistic regression found that PTH levels,hemoglobin and calcium-phosphorus product were the major risk factors for PH.ConclusionsMorbidity of PH in MHD patients is obviously high.Secondary hyperparathyroidism,anemia and high calcium-phosphorus product level may take part in the pathogenesis of PH in MHD patients.
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Objective To characterize the inheritance of erythropoietic protoporphyria (EPP) by detecting the mutations of ferroehelatase (FECH) gene in a Chinese family with EPP. Methods Peripheral blood samples were obtained from 4 patients and 3 unaffected individuals in a family with EPP, as well as from 50 unrelated healthy human controls. PCR was performed to amplify all the 11 exons and flanking sequence of FECH gene followed by direct sequencing. Results A splicing mutation,I.e., IVS3+1G→A, was identified in the proband as well as his symptomatic sister, cousin, grandfather and asymptomatic mother, but not in his asymptomatic father, grandmother, or unrelated healthy controls. The genotypes IVS1-23 T/C and IVS3-48 C/T were noted in the proband, his father, sister, cousin and grandfather, but absent in his mother or grandmother who carried IVS1-23 C/C and IVS3-48 T/T genotypes. Conclusions A novel splicing mutation is found in the FECH gene in a Chinese EPP family, which, together with two lowly expressed alleles IVS1-23T and IVS3-48C, is likely to be responsible for the clinical phenotype of EPP in this family.
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Objective To investigate the nutritional risks, undernutrition, and nutritional support among inpatients in tertiary hospitals in Tianjin using Nutritional Risk Screening 2002 (NRS2002). Methods Inpatients in six departments in two tertiary hospitals in Tianjin (Tianjin Nankai Hospital and Tianjin Chest Hospital ) were consecutively enrolled from March 2005 to March 2006. Their nutritional risks were screened using NRS 2002, and the nutritional support was investigated. Results A total of 1200 inpatients received nutritional screening, and 93.0% of them underwent NRS 2002 scoring. The prevalence of undernutrition was 9. 8% and the prevalence of nutritional risk was 42. 8%. Of these patients, 241 patients (46.4%) with NRS2002≥3 received nutrition support, and 244 patients (35.9%) with NRS2002 ＜3 received nutritional support Conclusions NRS2002 is suitable for nutritional risk screening among inpatients. Inpatients usually have nutritional risks or undernutrition. However, physicians at different levels in different regions have different awareness of such risks or conditions, and the clinical application of nutritional supports sometimes are inappropriate.