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1.
Limited information is available from developing countries on long-term outcome of patients with Hodgkin's lymphoma (HL). Between January 1998 and December 2005, 262 patients (age ≥15?years) underwent treatment. Patients' median age was 30?years, ranging from 15 to 72?years. Male to female ratio was 2.8:1. B symptoms were present in 64% of patients. Seventy percent of patients had stage III and IV disease. Mixed cellularity (52.3%) was the most common histology followed by nodular sclerosis (38%). ABVD chemotherapy was used in 85% of the patients, and 50% received radiotherapy as consolidation. Following treatment 92% of patients achieved complete response. Five-year freedom from treatment failure (FFTF) and overall survival rate are 78.3% and 86.6%?±?0.02% (95% CI 80.0-93.2%), respectively. Stage at presentation, number of lymph node regions involved (≥3 vs ≤2), presence of B symptoms, and serum albumin (≥40 vs <40?g/L) were important determinants of FFTF. In a subset analysis of stage I and II HL patients, presence of bulky disease and pure infradiaphragmatic disease was associated with inferior outcome. On multivariate analysis involvement of three or more number of lymph node regions was a significant predictor of inferior freedom from treatment failure survival (hazard ratio 2.2, p?相似文献   

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Psoriatic arthritis (PsA) is an inflammatory arthropathy, associated with skin and/or nail psoriasis. Real world data on efficacy and safety of TNF-α blockers in the elderly with PsA are lacking. The aim of this study was to evaluate the effectiveness, through the achievement of minimal disease activity (MDA), drug discontinuation rate, and safety in elderly patients with PsA on TNF-α blockers. A multicenter, observational study was carried out in four Italian centers. The assessment of disease activity and safety were performed at the start of anti-TNF-α (T0), at 6 months (T6) and at 12 months (T12). A total of 145 PsA patients were included in the study. At baseline 68 (46.9%) patients were on etanercept, 60 (41.3%) on adalimumab, 11 (7.6%) on golimumab, and 6 (4.1%) on infliximab. All the variables concerning PsA activity showed a statistically significant improvement when comparing T6 and T12 with T0. After 6 and 12 months of therapy, respectively, 31 (22.6%) and 71 (51.8%) patients achieved MDA (p < 0.001). The drug discontinuation rate was 5.5% with a mean of 6.8 months (range 2–10 months), and it was due to lack of efficacy, adverse events, and lost to follow-up. Nine patients (6.2%) reported the onset of mild infections resolved with antimicrobial specific oral regimen without therapy interruption. TNF-α blockers are effective in the achievement of a low disease status and safe in elderly patients with PsA. Therefore, age should not be considered a limitation to their use.  相似文献   

4.
Objective and importance: To verify the presence of β-thalassemia in subjects showing hematologic phenotype of α-thalassemia, conduct normal molecular sequence analysis of the α-globin genes, and detect the absence of the most frequent α-thalassemia deletions.

Clinical presentation: A patient from Apulia (Southern Italy) was referred to our institution for the occasional founding of hypochromic polyglobulia and microcytic red blood cells associated with normal levels of Hb A2 and Hb F and normal iron parameters.

Intervention and technique: The patient has been investigated using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, restriction analysis, and gap-PCR. A novel deletion, the Italian (?γδβ)0-thalassemia, has been identified. The 5′ breakpoint was within a LINE element of 80 kb 3′ of the ε-globin gene, and the 3′ breakpoint was within a 160-bp palindrome of about 30 kb 5′ of the β-globin gene. The breakpoint region was characterized by the presence of a microhomology (5′-TCT-3′) and of an insertion of 43 bp owing to the duplication of the 160-bp palindrome. Comparison of the Hb and Hb A2 values of (?γδβ)0-thalassemia from the literature with those of (molecularly known) thalassemia carriers indicated a higher level of Hb A2 with respect to α-thalassemia and a lower level of Hb with respect to β0-thalassemia carriers.

Conclusion: In this study, we report the first (?γδβ)0-thalassemia case identified in Italy. To avoid misdiagnosis of β-thalassemia, we suggest verifying the presence of large deletions of the β-globin gene cluster in subjects showing a higher border line level of Hb A2 and a lower level of Hb.  相似文献   

5.
Mixed phenotype acute leukemia (MPAL) in adults represents nearly 2 to 5 % of all acute leukemia cases. There are two large studies throughout the world and only case reports and small series have been reported in Latin America. This study retrospectively analyses the clinical characteristics and survival of 27 patients with MPAL evaluated in three medical institutions of Mexico. All cases meet World Health Organization 2008 criteria; 70.3 % of patients had B lymphoid/myeloid lineage MPAL. Induction chemotherapy protocols included 7?+?3 hyper-CVAD, high-density schedules, and pediatric-like regimens such as New York II and total XI. Complete remission was achieved in 23/27 patients (85.2 %). Only one patient died due to chemotherapy-induced aplasia during remission induction (5.2 %). In 68 % of cases, we were able to administer maintenance therapy as a regimen in lymphoblastic leukemia. At the time of analysis, 70.4 % of the patients in the entire cohort had died mainly as result of disease progression (73.6 %). Disease-free survival was 13 months (95 % CI, 9.6–16.3 months) and overall survival was 14.8 months (95 % CI 13.4–16.27). Survival rates are low and standardized therapy for the management of this type of leukemia is still lacking. This is the largest series reported in Mexico and to the best of our knowledge in Latin America.  相似文献   

6.
 At present, about 300 patients in Germany suffer from thalassemia major. In 1990, a multicenter study was introduced to identify all thalassemic patients in Germany as well as to establish a uniform therapy protocol, including follow-up diagnostic procedures. After 6 years of study, the data of 203 patients were analyzed. The majority originate from endemic regions around the Mediterranean Sea. The median age of the patients is 13.8 years (range 1–37.5 years). At present, about 20% of the patients are older than 21 years. Regarding transfusion therapy, a shortening of the average transfusion interval to 3 weeks in most cases occurred. Throughout the entire period, median baseline hemoglobin concentrations of 10.0 g/dl were observed. The evaluation of serum ferritin levels revealed considerable differences, depending on the patients' age. Thalassemic patients in the first decade of life generally presented with good therapeutic results; serum ferritin levels were below 1800 ng/ml in 76/102 patients (75%) upon entry into the study. In contrast, 51/98 patients (52%) older than 10 years had ferritin levels above 2500 ng/ml. More than half of all treated patients presented with siderotic complications such as cardiac disease in 20/157 (13%), liver disease in 32/157 (21%), impaired glucose metabolism in 22/157 (14%), hypogonadism in 39/66 (59%), and hypothyroidism in 38/157 (24%) who were under treatment at the time of first survey. Since the situation concerning siderosis and the lack of compliance proved to be particularly difficult with adolescent patients, further efforts should concentrate on this age-group. Received: February 2, 1999 / Accepted: June 22, 1999  相似文献   

7.

Background

Double-balloon endoscopy (DBE) examinations are not yet widely accepted as routine procedures for examining the small bowel of patients with Crohn’s disease (CD).

Aim

To evaluate the feasibility and usefulness of DBE for CD in tertiary-care hospitals.

Methods

Between July 2004 and September 2008, 1444 DBE procedures were performed for 704 patients in 6 tertiary-care hospitals. Patient profile, indication, diagnosis and treatment of DBE were evaluated using a multicenter database.

Results

DBE examinations were most frequently performed in 75 patients with CD, corresponding to 10.5% of all the patients examined by DBE. Fifty patients were diagnosed with CD before DBE, while DBE was performed for the diagnosis of 25 new CD patients. Small bowel lesions were often detected even when the terminal ileum was not involved. In the 75 patients, 21 patients were asymptomatic at the time of DBE examinations. Active inflammatory lesions were detected in 51.2% of the CD patients, and were even detected in 33.3% of the asymptomatic CD patients. The treatment was altered in 53.3% of the CD patients after the DBE evaluation. No severe complications were experienced.

Conclusions

DBE procedures can be safely performed in patients with CD and should be considered for the precise evaluation of and to determine the treatment strategy for CD.
  相似文献   

8.
While outpatient anticoagulation services (AMS) have existed extensively for a number of years, inpatient AMS have only recently begun to be implemented on a widespread basis. This is in direct response to anticoagulation regulations set forth by entities such as the Joint Commission (TJC) and the Centers for Medicare and Medicaid services (CMS). Hospitals not complying with these regulations are at risk for either financial or accreditation punition. Inpatient AMS have reported positive impacts on patient outcomes in the literature, which gives hospitals an additional impetus to provide this type of service. Inpatient AMS pose many challenges, including identification of resources for development and implementation of the service, means to make changes to the service as it evolves and effectively tracking performance of the service. Using a well-planned, methodical approach for implementation has helped our institution capitalize on the numerous potential benefits of an inpatient AMS, including improved inpatient anticoagulation therapy, improved transitions of care and enhanced interdisciplinary practices.  相似文献   

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The identification of defectives genes underlying inherited diseases has made it clear that patients with the same genotype can have variable clinical expression. Suggestions proposing that the protein AHSP, a a-globin specific chaperone could influence disease severity in patients with ß-thalassemia, an inherited disorder characterized by a quantitative deficiency of ß-globin genes. This article presents a review of the AHSP gene structure, function and expression. A discussion of the AHSP gene knowledgments is presented with an overview of the possible genetic modifier function of AHSP on ß-thalassemia pathophisiology.  相似文献   

11.
Objectives. Our aim was to present the immediate and intermediate long-term results of the application of retrograde nontransseptal balloon mitral valvuloplasty (RNBMV) in four cooperating centers from Greece and India.Background. RNBMV is a purely transarterial method of balloon valvuloplasty, developed with the aim to avoid complications associated with transseptal catheterization. Only single-center experience with RNBMV has been previously reported.Methods. The procedure was attempted in 441 patients with symptomatic mitral stenosis (320 women, 121 men, mean age [± SD] 44 ± 11 years, mean echocardiographic score [± SD] 7.7 ± 2.0) from 1988 to 1996. Three hundred eighty-five patients with successful immediate outcome were followed clinically for a mean [± SD] of 3.5 ± 1.9 (range, 0.5–9.1) years.Results. A technically successful procedure was achieved in 388 (88%) cases. The echocardiographic score (p < 0.001), male gender (p = 0.005), preprocedural mitral regurgitation (p = 0.007) and previous surgical commissurotomy (p = 0.029) were unfavorable predictors of immediate outcome. Complications included death (0.2%), severe mitral regurgitation (3.4%) and injury of the femoral artery (1.1%). Event-free (freedom from cardiac death, mitral valve surgery, repeat valvuloplasty and NYHA class > II symptoms) survival rates (± SEM) were 100%, 96.9 ± 0.9%, 89.8 ± 1.9% and 75.5 ± 5.5% at 1, 2, 4 and 9 years, respectively. The echocardiographic score (p < 0.001), NYHA class (p = 0.008) and postprocedural mitral valve area (p = 0.009) were significant independent predictors of intermediate long-term outcome.Conclusions. Multicenter experience indicates that RNBMV is a safe and effective technique for the treatment of symptomatic mitral stenosis. As with the transseptal approach, patients with favorable mitral valve anatomy derive the greatest immediate and intermediate long-term benefit from this procedure.  相似文献   

12.
Background and Aim: Pegylated interferon‐α (PEG‐IFN) provides potential advantages over nucleos(t)ide analogues in the treatment of chronic hepatitis B (CHB) given its finite course, durability and lack of drug resistance. Much of the evidence is derived from controlled studies and it is unclear whether these results can be replicated in an everyday, non‐controlled setting. The aim of this study was to examine the efficacy and tolerability of PEG‐IFN‐α2A in CHB patients in a clinical setting. Methods: Chronic hepatitis B patients treated with PEG‐IFN‐α2A (180 µg/week, 48 weeks) at five tertiary hospitals were retrospectively identified. Baseline demographic and clinical data, on‐treatment virological and serological responses and adverse events (AE) were recorded. Treatment outcomes were defined as alanine aminotransferase (ALT) normalization, hepatitis B virus DNA < 351 IU/mL and hepatitis B e antigen (HBeAg) seroconversion. Results: Sixty three HBeAg positive patients were identified (65% male, 80% born in Asia, 84% with viral loads > 6log IU/mL, 9.5% advanced fibrosis). Six months after therapy 46% achieved normalization of ALT, 16% had viral loads < 351 IU/mL and 32% achieved HBeAg seroconversion. 29 HBeAg negative patients were treated (75% male, 86% born in Asia, 48% had viral loads > 6log IU/mL, 24% advanced fibrosis). Six months post‐treatment, 55% and 36% maintained a normalized ALT and HBV DNA < 351 IU/mL, respectively. Optimal viral suppression was maintained in 50–75% of patients over 2 years of follow up. 6.5% of all patients discontinued therapy due to AEs. Conclusion: In everyday clinical practice PEG‐IFN therapy in CHB is well tolerated and can achieve a similar efficacy to that seen in large controlled trials.  相似文献   

13.
We report a case of acute lead poisoning in an adult female who had last been exposed to lead 7 years ago. She presented with abdominal pain, knee pain, and neurological symptoms, hypertension, chronic kidney disease, and anemia with basophilic stippling and lead gum lines. Compared to during her recent pregnancy, her lead level had almost tripled in 5 months to 81 mcg/dL. Chelation therapy was initiated and improved the patient’s symptoms and lead level significantly. In the absence of any new lead exposure or other reasons for increased bone turnover, this acute lead increase was likely due to skeletal mobilization caused by increased resorption from mineralized tissue during and after her pregnancy. This case report illustrates the seriousness of long-term health effects associated with lead poisoning at a multi-organ level, even years after the initial exposure. Thus, patient care should not be limited to the acute treatment of increased lead levels, but also include prevention of increased mobilization and bone turnover and appropriate patient education. In this context, we review various aspects of lead toxicity, especially during pregnancy and lactation.  相似文献   

14.
AIM:To evaluate the management of Italian children with cholelithiasis observed at Pediatric and Surgical Departments linked to Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.
METHODS: One-hundred-eighty children (90 males, median age at diagnosis 7.3 years; range, 0-18 years) with echographic evidence of cholelithiasis were enrolled in the study; the data were collected by an anonymous questionnaire sent to participating centers.
RESULTS: One hundred seventeen patients were treated with ursodeoxycholic acid; in 8 children dissolution of gallstones was observed, but the cholelithiasis recurred in 3 of them. Sixty-five percent of symptomatic children treated became asymptomatic. Sixty-four patients were treated with cholecystectomy and in only 2 cases a postoperative complication was reported. Thirty- four children received no treatment and were followed with clinical and echographic controls; in no case thedevelopment of complications was reported.
CONCLUSION: The therapeutic strategies were extremely heterogeneous. Ursodeoxycholic acid was ineffective in dissolution of gallstones but it had a positive effect on the symptoms. Laparoscopic cholecystectomy was confirmed to be an efficacy and safe treatment for pediatric gallstones.  相似文献   

15.
Summary The relative excess of - over -globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous -thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of -thalassemia mutations and changes of - and -globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous -thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. -Globin genotyping shows her to be compound heterozygous for the codon 39 C T -nonsense mutation and for the T C +-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C T/IVS 1–6 T C). -Globin gene mapping demonstrates the presence of a 3.7-kb +-thalassemia deletion on one allele (–3.7/). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous -thalassemia when inherited in combination.Abbreviations Hb hemoglobin - Hct hematocrit - HPFH hereditary persistence of fetal hemoglobin - IVS intervening sequence - MCH mean corpuscular hemoglobin - MCV mean corpuscular volume - PCR polymerase chain reaction  相似文献   

16.

Background

Pregnancy in von Willebrand’s disease may carry a significant risk of bleeding. Information on changes in factor VIII and von Willebrand factor and pregnancy outcome in relation to von Willebrand factor gene mutations are very scanty.

Design and Methods

We examined biological response to desmopressin, changes in factor VIII and von Willebrand factor and pregnancy outcome in a cohort of 23 women with von Willebrand’s disease characterized at molecular level and prospectively followed during 2000–2007.

Results

Thirty-one pregnancies occurred during the study period. Remarkably, similar changes of factor VIII and von Willebrand factor were observed after desmopressin and during pregnancy in nine women with R854Q, R1374H, V1665E, V1822G and C2362F mutations. Women with von Willebrand’s disease and R1205H and C1130F mutations (17 pregnancies in 12 women) had only a slight increase of factor VIII and von Willebrand factor during pregnancy while their response to desmopressin was marked but short-lived. For these women, two to three desmopressin administrations within the first 48 hours were sufficient to successfully manage vaginal delivery. Two women with recessive von Willebrand’s disease due to compound heterozygosity for different gene mutations had a spontaneous, major increase in factor VIII while von Willebrand factor remained severely reduced. Desmopressin increased factor VIII and was clinically useful in the first case, while a factor VIII/von Willebrand factor concentrate was required in the second patient not responsive to the compound. Factor VIII/von Willebrand factor concentrate was also required for two women with type 2 A von Willebrand’s disease with V1665E mutations who had no von Willebrand factor activity change during pregnancy. In one of them, delayed bleeding occurred 15 days later requiring treatment with Factor VIII/von Willebrand factor concentrate. No miscarriages or stillbirths occurred.

Conclusions

Close follow-up and detailed guidelines for the management of parturition have produced a very low rate of immediate and late bleeding complications in this setting. Desmopressin was effective and safe in preventing significant bleeding at delivery in most of these patients.  相似文献   

17.
The clinico epidemiological characteristics, frequency of complications, and response to various therapeutic modalities in 80 Egyptian β-thalassemia intermedia (β-TI) patients were compared with 70 β-thalassemia major (β-TM) patients. β-Thalassemia intermedia patients had a higher incidence of left atrium dilatation, right ventricular dilatation and pulmonary hypertension, whereas, β-TM patients showed a higher incidence of left ventricular (LV) dilatation, restrictive LV filling and impaired LV contractility, with an overall higher incidence of heart disease (p <0.001). Short stature, delayed puberty, osteoporosis, bone fractures, diabetes mellitus and viral hepatitis was frequently observed in β-TM patients compared with β-TI patients (p <0.05). Administration of hydroxyurea (HU) alone was associated with significant improvement in hematological parameters and quality of life for β-TI patients. In conclusion, the risk of complications still burdens the life of Egyptian thalassemia patients and their frequency varies between β-TI and β-TM. We provide evidence that calls for the use of HU in β-TI patients.  相似文献   

18.
Background Active Crohns disease (CD) is often associated with elevated levels of platelets, granulocytes, and monocytes that are activated and resistant to apoptosis. The level of neutrophils in the intestinal mucosa has been quantitatively related to the severity of intestinal inflammation in CD. We postulated that patients with CD that is refractory to conventional medications might respond to a reduction of granulocytes and monocytes by adsorptive apheresis.Methods Twenty-one patients with a CD activity index (CDAI) of 200–399 and unresponsive to standard medication, which included nutritional intervention, received granulocyte and monocyte adsorptive apheresis (GCAP) as an adjunct to their ongoing medication. GCAP was performed with an Adacolumn, which adsorbs granulocytes, monocytes, and a small fraction of lymphocytes (FcR and complement receptor-bearing leucocytes). Patients received one GCAP session/week for 5 consecutive weeks. CDAI, International Organization for the Study of Inflammatory Bowel Disease (IOIBD), and IBD questionnaire (IBDQ) scores were evaluated.Results During the initial conventional/nutritional therapy, no significant improvement was seen in any patient. However, at week 7 of GCAP therapy, significant improvements in CDAI, IOIBD, and IBDQ scores were observed. The CDAI, IOIBD, and IBDQ scores before GCAP were 275.6 ± 54.2, 3.4 ± 1.4, and 152 ± 22, respectively. The corresponding values after GCAP were 214.8 ± 89.2 (P = 0.0005), 2.54 ± 1.5 (P = 0.0224), and 165 ± 29 (P = 0.0327), respectively.Conclusions GCAP could be effective for inducing remission and improving quality of life in patients with active CD that is refractory to conventional therapy.  相似文献   

19.
BackgroundGermline mutations in the STK11/LKB1 gene cause Peutz–Jeghers syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous pigmentation, hamartomatous gastrointestinal polyposis, and an increased risk for various malignancies. We here report the results of the first Italian collaborative study on Peutz–Jeghers syndrome.AimsTo assess cancer risks in a large homogenous cohort of patients with Peutz–Jeghers syndrome, carrying, in large majority, an identified STK11/LKB1 mutation.MethodsOne-hundred and nineteen patients with Peutz–Jeghers syndrome, ascertained in sixteen different Italian centres, were enrolled in a retrospective cohort study. Relative and cumulative cancer risks and genotype–phenotype correlations were evaluated.Results36 malignant tumours were found in 31/119 (29 STK11/LKB1 mutation carriers) patients. The mean age at first cancer diagnosis was 41 years. The relative overall cancer risk was 15.1 with a significantly higher risk (p < 0.001) in females (22.0) than in males (8.6). Highly increased relative risks were present for gastrointestinal (126.2) and gynaecological cancers (27.7), in particular for pancreatic (139.7) and cervical cancer (55.6). The Kaplan–Meier estimates for overall cumulative cancer risks were 20%, 43%, 71%, and 89%, at age 40, 50, 60 and 65 years, respectively.ConclusionPeutz–Jeghers syndrome entails markedly elevated cancer risks, mainly for pancreatic and cervical cancers. This study provides a helpful reference for improving current surveillance protocols.  相似文献   

20.
《Digestive and liver disease》2017,49(12):1306-1313
BackgroundBarrett’s esophagus (BE) is recognized as a risk factor for esophageal adenocarcinoma. An expert panel was organized in Italy with the aim of drafting a series of statements on BE to guide diagnosis and management of patients with BE.MethodsThe working Group Coordinators worked on a literature search to identify key topics regarding critical steps of the endoscopic approach to BE. Based on the search and their expert opinion, a list of most meaningful questions was prepared and emailed to all members who were asked to vote the questions. When the survey was completed a consensus meeting was organized. According to the survey results, Group Coordinators proposed a draft statement that was voted. By definition, the statement was formulated when there was an agreement of ≥50% among participants.ResultsTwenty nine participants deliberated 18 questions. The agreement was reached for 16 questions for which a recommendation was formulated.ConclusionThe generated statements highlight the Italian contribution to the European Position Statement of the European Society of Gastrointestinal Endoscopy. The Italian statements preserve peculiarities when dealing with the endoscopic management of BE and wishes to be considered as a contribution for the care of BE patients even with a low risk of progression to esophageal neoplasia.  相似文献   

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