Long-Term Follow-Up of Monoclonal Gammopathies in Gaucher Disease Patients on Enzyme Replacement Therapy.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3336-3336
Author(s):  
Jae H. Park ◽  
Allan F. Moore ◽  
David J. Kuter
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Monoclonal Gammopathies ◽  
Enzyme Replacement ◽  
Group 3 ◽  
Group 2 ◽  
Initiation Of Therapy ◽  
Group 1

Abstract Gaucher Disease is a lysosomal storage disease in which glucocerebroside accumulates in macrophages because of a deficiency of the lysosomal enzyme, β-glucocerebrosidase. Polyclonal and monoclonal gammopathies (MG) have been frequently associated with long-standing Gaucher Disease, and there have been reports suggesting an increased incidence of multiple myeloma (MM) in these patients. Chronic stimulation of the immune system secondary to progressive glucocerebroside storage and increased expression of cytokines such as Interleukin 6 have all been postulated to be the mechanism underlying this association. The purpose of this study was to ascertain the incidence and natural history of MG in Type 1 Gaucher Disease patients on enzyme replacement therapy (ERT) followed for up to 15 years. Twenty-eight patients with Type I Gaucher Disease on ERT seen at a single medical center were selected for the analysis. Of the twenty-eight patients, 17 (60.7%) were male; 11 (39.3%) were female; and the median age at the initiation of therapy was 42 years (range 25–85 years). Serum protein electrophresis (SPEP), immunofixation, and immunoglobulin quantitation were performed in all of these patients before initiating ERT and at intervals during follow-up. The patients were categorized into three groups based on their initial SPEP results: Group 1: those with normal SPEP pattern; Group 2: those with polyclonal gammopathy; and Group 3: those with MG. At the time of initiation of ERT, Group 1 contained 12 patients (42.8%) while Groups 2 and 3 each had 8 patients (28.6%). During follow up for a median of 8.5 years (range 1–15 years), 2 patients from the Group 1 (16.7%) and 4 patients from Group 2 (50%) developed MG. Of the patients in Group 3, 3 patients (21.4%) reverted to a normal SPEP pattern. Overall, 14 patients (50%) in all three groups had a MG identified at the time of initiation of therapy or during follow-up: 3 (all in Group 3) reverted to a normal SPEP pattern while the other 11 patients showed no change in M-spike levels after a median of 8.5 years of follow up. All 14 patients with MG had a monoclonal IgG immunoglobulin, and 3 of them also had a monoclonal IgM immunoglobulin. There was no association between the occurance or type of MG with any particular Gaucher Disease genotype, patient age, or other clinical variable. Only one of the patients developed a malignancy: an elderly man with MG developed Hodgkin’s Disease. None of our patients developed MM. In conclusion, these data confirm the high rate of MG in patients with Gaucher Disease but a low rate of progression to any other plasmacytic or lymphocytic disorder.

scholarly journals P799 The echocardiographic and clinical characteristics of Fabry patients without overt left ventricular hypertrophy but progressing despite on enzyme replacement therapy

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
S Y Lee ◽  
S H Lee ◽  
Y H Park
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Antibody Formation ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Enzyme Replacement ◽  
Tertiary Center ◽  
Group 2 ◽  
Group 1

Abstract Background Fabry disease (FD) is X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α- galactosidase. When the heart is involved, progressive left ventricular hypertrophy (LVH) is the key feature. Although, LVH is not present in all subjects, some of them progress with LVH despite enzyme replacement therapy (ERT). The present study aimed to evaluate the characteristics of patient of FD without overt LVH, but progresses with their left ventricular mass index (LVMI). Method : This study includes subjects carrying genetic mutations for FD without LVH (n = 12) in a single tertiary center. ‘Decreasing LVMI group (Group1)’ was defined when pre-ERT LVMI minus last LVMI value obtained by echocardiography was positive, and when negative, defined as ‘Increasing LVMI group (Group 2)’. The baseline characteristics and echocardiographic parameters including global strain was analyzed. Result : Total 6 patients were classified as Group 1 and 2 each. The median age at diagnosis for male was 21 vs 27 for each group, and 21 vs 31 for female. The median follow-up duration was 4.0 vs 5.7 yr. The antibody formation for replaced enzyme was 3 for Group 2 and any family member who developed overt LVH was much 1 vs 3 for group 1 vs 2. Initial 3 plane GLS was worse and showed trend to drop in Group 2. Conclusion : In the Fabry patients get worse with their LVMI but still not developed overt LVH despite enzyme replacement therapy, there are some clinical and echo-parameter difference. These findings could suggest insufficient enzyme replacement therapy. Group 1 (n = 6) Group 2 (n = 6) Female/Male 4/2 3/3 Age of at Dx (Female) (median) 21 28 Age of at Dx (Male) (median) 21 31 F/U duration (median) 4.0 yrs 5.7 yrs Antibody formation 0 3 Any Overt LVH family Genotype c.56T > C c.40-11T > A, 782_delG, c.658C > T Initial LVMI (Median) 98.2g/m2 70.9g/m2 Initial GLS (3P) -19 -17.8 Continuously elevated LysoGb3 2 4 Proteinuria >300mg 1 3 (1 preparing HD)

scholarly journals Quality of Life Assessment after Pancreatic Enzyme Replacement Therapy in Chronic Pancreatitis

2003 ◽  
Vol 17 (10) ◽  
pp. 597-603 ◽  
Author(s):  
László Czakó ◽  
Tamás Takács ◽  
Peter Hegyi ◽  
László Prónai ◽  
Zsolt Tulassay ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Chronic Pancreatitis ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pancreatic Enzyme ◽  
Enzyme Replacement ◽  
Pancreatic Enzyme Replacement Therapy ◽  
Group 1

GOALS: To evaluate the quality of life (QoL) of patients with chronic pancreatitis before and after pancreatic enzyme replacement therapy in a prospective, multicentre, follow-up study.STUDY: Two groups of patients were evaluated. Group 1 consisted of 31 patients with newly diagnosed chronic pancreatitis who had never been treated with pancreatic enzyme preparations. Group 2 consisted of 39 patients whose disease was diagnosed on average 3.4 years before the start of the study. The latter group of patients had undergone pancreatic enzyme replacement therapy, but during follow-up this treatment proved to be insufficient. The dose of pancreatic enzyme replacement therapy was tailored in accordance with the degree of pancreatic exocrine insufficiency measured by means of exocrine pancreatic function tests. A modified European Organizaton for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) was used to assess QoL.RESULTS: The social functioning and financial strain were significantly better, while the levels of hope and confidence were significantly reduced in group 1 compared with group 2. A significant gain in body weight and a significantly reduced defecation rate were found in both groups one month after the beginning of the pancreatic enzyme replacement therapy when compared with the pretreatment values. The prevalence of general and disease-specific symptoms and the intensity of pain were reduced in both groups after one month of enzyme substitution therapy. The working ability, the financial strain and the overall QoL scores were improved significantly in both groups, while the cognitive functioning score was found to be significantly improved during the follow-up only in group 1. The overall increase in the QoL score correlated significantly with the increase in body weight and the decrease in defecation number in both groups.CONCLUSIONS: Pancreatic enzyme replacement therapy in patients with chronic pancreatitis not only reduced the extent of steatorrhea and pain, but also significantly improved a variety of other symptoms and the patient’s QoL. Individually tailored enzyme replacement therapy improved the QoL not only in the untreated chronic pancreatitis patients, but also in the inadequately treated group. This study demonstrated that the EORTC QLQ-C30 questionnaire, with the addition of two further questions about steatorrhea, is a useful tool for the evaluation of QoL in patients with chronic pancreatitis.

Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

2004 ◽  
Vol 344 (1-2) ◽  
pp. 101-107 ◽  
Author(s):  
Mario A Cabrera-Salazar ◽  
Erin O'Rourke ◽  
Nadene Henderson ◽  
Howard Wessel ◽  
John A Barranger
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Surrogate Markers ◽  
Enzyme Replacement ◽  
Long Term Follow Up

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

scholarly journals Effects of posterior tibial slope on the mid-term results of medial unicompartmental knee arthroplasty

Arthroplasty ◽  
2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Zhijie Chen ◽  
Kaizhe Chen ◽  
Yufei Yan ◽  
Jianmin Feng ◽  
Yi Wang ◽  
...  
Keyword(s):  
Knee Flexion ◽  
Tibial Slope ◽  
Posterior Tibial ◽  
Significant Difference ◽  
Medial Unicompartmental Knee Arthroplasty ◽  
Group 3 ◽  
Group 2 ◽  
Postoperative Knee ◽  
Group 1

Abstract Objective To evaluate the effect of medial posterior tibial slope (PTS) on mid-term postoperative range of motion (ROM) and functional improvement of the knee after medial unicompartmental knee arthroplasty (UKA). Methods Medical records of 113 patients who had undergone 124 medial UKAs between April 2009 through April 2014 were reviewed retrospectively. The mean follow-up lasted 7.6 years (range, 6.2–11.2 years). Collected were demographic data, including gender, age, height, weight of the patients. Anteroposterior (AP) and lateral knee radiographs of the operated knees were available in all patients. The knee function was evaluated during office follow-up or hospital stay. Meanwhile, postoperative PTS, ROM, maximal knee flexion and Hospital for Special Surgery (HSS) knee score (pre−/postoperative) of the operated side were measured and assessed. According to the size of the PTS, patients were divided into 3 groups: group 1 (<4°), group 2 (4° ~ 7°) and group 3 (>7°). The association between PTS and the knee function was investigated. Results In our cohort, the average PTS was 2.7° ± 0.6° in group 1, 5.6° ± 0.9° in group 2 and 8.7° ± 1.2° in group 3. Pairwise comparisons showed significant differences among them (p < 0.01). The average maximal flexion range of postoperative knees in each group was 112.4° ± 5.6°, 116.4° ± 7.2°, and 117.5° ± 6.1°, respectively, with significant difference found between group 1 and group 2 (p < 0.05), and between group 1 and group 3 (p < 0.05). However, the gender, age, and body mass index (BMI) did not differ between three groups and there was no significant difference between groups in terms of pre−/postoperative HSS scores or postoperative knee ROM. Conclusion A mid-term follow-up showed that an appropriate PTS (4° ~ 7°) can help improve the postoperative flexion of knee. On the other hand, too small a PTS could lead to limited postoperative knee flexion. Therefore, the PTS less than 4° should be avoided during medial UKA.

The Relationship between Serum Ferritin Levels and 5-Year All-Cause Mortality in Hemodialysis Patients

2021 ◽  
pp. 1-7
Author(s):  
Emre Erdem ◽  
Ahmet Karatas ◽  
Tevfik Ecder
Keyword(s):  
Serum Ferritin ◽  
Hemodialysis Patients ◽  
Rank Test ◽  
Significant Difference ◽  
All Cause Mortality ◽  
Group 3 ◽  
Group 2 ◽  
The Relationship ◽  
Group 1

<b><i>Introduction:</i></b> The effect of high serum ferritin levels on long-term mortality in hemodialysis patients is unknown. The relationship between serum ferritin levels and 5-year all-cause mortality in hemodialysis patients was investigated in this study. <b><i>Methods:</i></b> A total of 173 prevalent hemodialysis patients were included in this study. The patients were followed for up to 5 years and divided into 3 groups according to time-averaged serum ferritin levels (group 1: serum ferritin &#x3c;800 ng/mL, group 2: serum ferritin 800–1,500 ng/mL, and group 3: serum ferritin &#x3e;1,500 ng/mL). Along with the serum ferritin levels, other clinical and laboratory variables that may affect mortality were also included in the Cox proportional-hazards regression analysis. <b><i>Results:</i></b> Eighty-one (47%) patients died during the 5-year follow-up period. The median follow-up time was 38 (17.5–60) months. The 5-year survival rates of groups 1, 2, and 3 were 44, 64, and 27%, respectively. In group 3, the survival was lower than in groups 1 and 2 (log-rank test, <i>p</i> = 0.002). In group 1, the mortality was significantly lower than in group 3 (HR [95% CI]: 0.16 [0.05–0.49]; <i>p</i> = 0.001). In group 2, the mortality was also lower than in group 3 (HR [95% CI]: 0.32 [0.12–0.88]; <i>p</i> = 0.026). No significant difference in mortality between groups 1 and 2 was found (HR [95% CI]: 0.49 [0.23–1.04]; <i>p</i> = 0.063). <b><i>Conclusion:</i></b> Time-averaged serum ferritin levels &#x3e;1,500 ng/mL in hemodialysis patients are associated with an increased 5-year all-cause mortality risk.

scholarly journals Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sebile Kılavuz ◽  
Sibel Basaran ◽  
Deniz Kor ◽  
Fatma Derya Bulut ◽  
Sevcan Erdem ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Clinical Data ◽  
Treatment Initiation ◽  
Case Series ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Over Time ◽  
Morquio A Syndrome

Abstract Background This case series includes longitudinal clinical data of ten patients with Morquio A syndrome from south and southeastern parts of Turkey, which were retrospectively collected from medical records. All patients received enzyme replacement therapy (ERT). Clinical data collected included physical appearance, anthropometric data, neurological and psychological examinations, cardiovascular evaluation, pulmonary function tests, eye and ear-nose-throat examinations, endurance in the 6-min walk test and/or 3-min stair climb test, joint range of motion, and skeletal investigations (X-rays, bone mineral density). Results At the time of ERT initiation, two patients were infants (1.8 and 2.1 years), five were children (3.4–7.1 years), and three were adults (16.5–39.5 years). Patients had up to 4 years follow-up. Most patients had classical Morquio A, based on genotypic and phenotypic data. Endurance was considerably reduced in all patients, but remained relatively stable or increased over time in most cases after treatment initiation. Length/height fell below normal growth curves, except in the two infants who started ERT at ≤ 2.1 years of age. All patients had skeletal and/or joint abnormalities when ERT was started. Follow-up data did not suggest improvements in skeletal abnormalities, except in one of the younger infants. Nine patients had corneal clouding, which resolved after treatment initiation in the two infants, but not in the other patients. Hepatomegaly was reported in seven patients and resolved with treatment in five of them. Other frequent findings at treatment initiation were coarse facial features (N = 9), hearing loss (N = 6), and cardiac abnormalities (N = 6). Cardiac disease deteriorated over time in three patients, but did not progress in the others. Conclusions Overall, this case series with Morquio A patients confirms clinical trial data showing long-term stabilization of endurance after treatment initiation across ages and suggest that very early initiation of ERT optimizes growth outcomes.

Etiology of Cartilage Lesions Does Not Affect Clinical Outcomes of Patellofemoral Autologous Chondrocyte Implantation

Cartilage ◽  
2021 ◽  
pp. 194760352110309
Author(s):  
Alexandre Barbieri Mestriner ◽  
Jakob Ackermann ◽  
Gergo Merkely ◽  
Pedro Henrique Schmidt Alves Ferreira Galvão ◽  
Luiz Felipe Morlin Ambra ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Autologous Chondrocyte Implantation ◽  
Second Generation ◽  
Cartilage Lesion ◽  
Chondrocyte Implantation ◽  
Group 3 ◽  
Group 2 ◽  
Autologous Chondrocyte ◽  
Group 1

Objective To determine the relationship between cartilage lesion etiology and clinical outcomes after second-generation autologous chondrocyte implantation (ACI) in the patellofemoral joint (PFJ) with a minimum of 2 years’ follow-up. Methods A retrospective review of all patients that underwent ACI in the PFJ by a single surgeon was performed. Seventy-two patients with a mean follow-up of 4.2 ± 2.0 years were enrolled in this study and were stratified into 3 groups based on the etiology of PFJ cartilage lesions: patellar dislocation (group 1; n = 23); nontraumatic lesions, including chondromalacia, osteochondritis dissecans, and degenerative defects (group 2; n = 28); and other posttraumatic lesions besides patellar dislocations (group 3; n = 21). Patient’s mean age was 29.6 ± 8.7 years. Patients in group 1 were significantly younger (25.4 ± 7.9 years) than group 2 (31.7 ± 9.6 years; P = 0.025) and group 3 (31.5 ± 6.6 years; P = 0.05). Body mass index averaged 26.2 ± 4.3 kg/m2, with a significant difference between group 1 (24.4 ± 3.2 kg/m2) and group 3 (28.7 ± 4.5 kg/m2; P = 0.005). A clinical comparison was established between groups based on patient-reported outcome measures (PROMs) and failure rates. Results Neither pre- nor postoperative PROMs differed between groups ( P > 0.05). No difference was seen in survivorship between groups (95.7% vs. 82.2% vs. 90.5%, P > 0.05). Conclusion Cartilage lesion etiology did not influence clinical outcome in this retrospective study after second generation ACI in the PFJ. Level of Evidence Level III, retrospective comparative study.

scholarly journals A tissue-engineered urinary conduit in a porcine urinary diversion model

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Arkadiusz Jundziłł ◽  
Piotr Kwieciński ◽  
Daria Balcerczyk ◽  
Tomasz Kloskowski ◽  
Dariusz Grzanka ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Urinary Diversion ◽  
Porcine Model ◽  
Histological Evaluation ◽  
Metabolic Complications ◽  
Group 3 ◽  
Group 2 ◽  
The Right ◽  
Group 1

AbstractThe use of an ileal segment is a standard method for urinary diversion after radical cystectomy. Unfortunately, utilization of this method can lead to numerous surgical and metabolic complications. This study aimed to assess the tissue-engineered artificial conduit for urinary diversion in a porcine model. Tissue-engineered tubular polypropylene mesh scaffolds were used for the right ureter incontinent urostomy model. Eighteen male pigs were divided into three equal groups: Group 1 (control ureterocutaneostomy), Group 2 (the right ureter-artificial conduit-skin anastomoses), and Group 3 (4 weeks before urostomy reconstruction, the artificial conduit was implanted between abdomen muscles). Follow-up was 6 months. Computed tomography, ultrasound examination, and pyelogram were used to confirm the patency of created diversions. Morphological and histological analyses were used to evaluate the tissue-engineered urinary diversion. All animals survived the experimental procedures and follow-up. The longest average patency was observed in the 3rd Group (15.8 weeks) compared to the 2nd Group (10 weeks) and the 1st Group (5.8 weeks). The implant’s remnants created a retroperitoneal post-inflammation tunnel confirmed by computed tomography and histological evaluation, which constitutes urostomy. The simultaneous urinary diversion using a tissue-engineered scaffold connected directly with the skin is inappropriate for clinical application.

Sign in / Sign up

Export Citation Format

Share Document