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Objective:To analyze the efficacy and safety of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease.Methods:A retrospective analysis of the clinical manifestations, genetic variations, family screening, treatments and adverse reactions was conducted in five patients with Fabry disease admitted to the First Affiliated Hospital of Zhejiang University College of Medicine from July 2020 to May 2021. The dosage of agalsidase β was 1 mg/kg by intravenous pump once every 2 weeks.Results:Five male patients with median age of 37 years old (29-51 years old) were diagnosed based on clinical features, family history, α-galactosidase A (α-Gal A) activity, genetic analysis results and kidney biopsy. The clinical manifestations varied in these five patients. All patients had abnormal electrocardiogram, abnormal cardiac ultrasonography and abnormal urinalysis results, three experienced acroparaesthesia during childhood (one patient had persistent pain until adulthood), three had cutaneous angiokeratoma, four had renal insufficiency, four had hypohidrosis, four had diarrheas, four had cornea verticillata and two had high-frequency hearing loss. Two missense mutations of the GLA gene were identified: c.272T>C(p.I91T) and c.868A>G(p.Met290Val). Two nonsense mutations were c.1024C>T(p.Arg342*) and c.838C>T(p.Gln280*). Furthermore, the frameshift mutation c.348del p.(Ile117Phefs*4) was detected, which was not included in the known database, presented with classical Fabry disease. There was no serious adverse reaction during agalsidase β infusion in 5 patients. ERT reduced the plasma globotriaosylsphingosine (lyso-GL-3) levels after treatment of 2-10 months ( P<0.05), and the long-term diarrhea symptom were significantly improved. Conclusions:The clinical manifestations of Fabry disease are varied. Severe adverse events rarely occur in patients treated with short-term ERT. Plasma lyso-GL-3 levels decrease significantly after treatment.
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Objective To observe the effect of smoking cessation intervention combined with salmeterol and fluticasone pro‐pionate powder for inhalation on chronic obstructive pulmonary disease (COPD) patients with clinical symptoms and pulmonary function .Methods Totally 78 male long‐term smoking cases were randomly divided into control group(n= 40)and observation group(n=38) .The control group was treated with the ophylline sustained‐release tablets ,shah mette lo fluticasone;observation group received smoking cessation intervention .The smoking rate ,symptoms ,acute exacerbation ,life score and lung function (FEV1 ,FEV1/FVC) ,adverse reactions of two groups were observed .Results Two groups of symptoms were all improved ,but the observation group was better (P<0 .05) .FEV1 ,FEV1/FVC ,acute exacerbation ,scores were improved ,but the observation group was better(all P<0 .05);quit rates in the observation group was better than that of the control group(P<0 .05);and did not found adverse reactions .Conclusion The effect of smoking cessation intervention combined with salmeterol and fluticasone propionate powder for inhalation efficacy in the treatment of COPD is distinct ,can improve the pulmonary function and symptoms .
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ObjectiveTo investigate the effects of two health education models on the psychology and nutrition of patients waiting for cadaveric renal transplantation.Methods A total of 125 patients waiting for cadaveric renal transplantations were involved in our study.They were diagnosed with chronic renal failure in our hospital during September 1, 2009 to August 30, 2010.The patients were randomly divided into control group (n = 62) and observational group(n = 63).Patients in the control group received traditional health education with routine preoperative education during hospitalization.In the observational group, full-time nurses assessed the nutrition status of each patient and monitored the data. The observational patients were followed up and were given dietary guidance and knowledge of transplantation.Various kinds of education formats were adopted in observational group to provide communication opportunities between patients and surgeons in charge as well as patients who underwent transplantation.Psychological testings of patients in both groups were tested by self-rating anxiety scale (SAS) and self-rating depression scale (SDS) before and after the health education.Triceps skinfold thickness (TSF), mid-arm muscle circumference (MAMC) and biochemistry index were also tested.Psychological and nutritional status of patients in the two groups was compared.ResultsThere were no significant differences in scores of the SAS, SDS, TSF, Hb, and albumin (Alb) between the two groups (all P＞0.05) before health education.After health education, SAS and SDS in observational group were lower than those in the control group (40.02 ±9.05 vs 47.05 ± 10.32,42.70 ± 10.01 vs 50.83 ± 10.12; both P＜0.01).Both TSF and Hb were elevated after education (P ＜ 0.001 or 0.05).Alb was significantly elevated in the observational group [(35.67 ±6.19)g/L vs (37.48 ±5.09)g/L, P ＜0.01].ConclusionComprehensive and various health education methods can significantly alleviate mental stress and improve nutrition of the patients waiting for kidney transplantation, which is helpful for patients facing disease positively and having a better quality of
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A woman who had used a Chinese tea drug, choreito, for treatment of chronic renal diseases over years, experienced lead poisoning with blood lead concentration over 600 μg/l on admission to the hospital. We found that one of the ingredients in choreito, kasseki, was commonly contaminated by lead (30-50 μg/g of kasseki), but this level of lead contamination in the drug had never caused poisoning previously. Our experiment indicates that another ingredient, gelatin, has lead-extracting ability and an adhesive quality on the walls of teapots. Thus, the possible causes of the toxicity seemed to be: (1) the lead in the kasseki, which was extracted by gelatin that had adhered to the wall of the pot, accumulated in large quantities for a long period of time (the patient used the same pot for more than a year without washing); and (2) a large quantity of the accumulated lead was released into the decocted drug day by day and induced the intoxication. In all, 37.2 mg of lead was extracted by 10 extractions of 4% acetic acid from the patient’s pot. Repeated extraction (four times) of lead from the pot which was made by the same manufacturer in the same lot of the patient’s pot with acetic acid, only totally 18.5 μg of lead was detected.Also, it is evident that the intoxication was due to an improper method of decoction, that is, the patient did not prepare the tea according to Japanese pharmsacopoedia. The patient decocted all of the ingredients at the same time.