scholarly journals Shwachman–Diamond Syndrome

2021 ◽  
Vol 66 (5) ◽  
pp. 223-226
Author(s):  
D. R. Sabirova ◽  
A. R. Shakirova ◽  
I. I. Ramazanova ◽  
N. V. Shakurova
Keyword(s):  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Nutritional Therapy ◽  
Granulocyte Colony Stimulating Factor ◽  
Timely Initiation ◽  
Enzyme Preparations ◽  
Laboratory Examinations ◽  
Shwachman Diamond Syndrome ◽  
Stimulating Factor

This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

scholarly journals Quantitative and cell-cycle differences in progenitor cells mobilized by recombinant human interleukin-7 and recombinant human granulocyte colony-stimulating factor

Blood ◽  
1996 ◽  
Vol 88 (11) ◽  
pp. 4139-4148 ◽  
Author(s):  
KJ Grzegorzewski ◽  
KL Komschlies ◽  
JL Franco ◽  
FW Ruscetti ◽  
JR Keller ◽  
...  
Keyword(s):  
Stem Cells ◽  
Progenitor Cells ◽  
Combined Treatment ◽  
Fold Increase ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Interleukin 7 ◽  
Stimulating Factor

Abstract Administration of recombinant human interleukin-7 (rhIL-7) to mice increases the exportation of myeloid progenitors (colony-forming unit [CFU]-c and CFU-granulocyte erythroid megakaryocyte macrophage [CFU-GEMM]) from the bone marrow (BM) to peripheral organs, including blood, and also increases the number of primitive progenitor and stem cells in the peripheral blood (PB). We now report that combined treatment of mice with rhIL-7 and recombinant human granulocyte-colony stimulating factor (rhG-CSF) stimulates a twofold to 10-fold increase in the total number of PB CFU-c, and a twofold to fivefold increase in the total number of PB CFU-spleen at day 8 (CFU-S8) over the increase stimulated by rhIL-7 or rhG-CSF alone. In addition, the quality of mobilized cells with trilineage, long-term marrow-repopulating activity is maintained or increased in mice treated with rhIL-7 and rhG-CSF compared with rhIL-7 or rhG-CSF alone. These differences in mobilizing efficiency suggest qualitative differences in the mechanisms by which rhIL-7 and rhG-CSF mobilize progenitor cells, in fact, the functional status of progenitor cells mobilized by rhIL-7 differs from that of cells mobilized by rhG-CSF in that the incidence of actively cycling (S-phase) progenitors obtained from the PB is about 20-fold higher for rhIL-7-treated mice than for mice treated with rhG-CSF. These results suggest the use of rhIL-7-mobilized progenitor/stem cells for gene-modification and tracking studies, and highlight different functions and rates of repopulation after reconstitution with PB leukocytes obtained from mice treated with rhIL-7 versus rhG-CSF.

scholarly journals Influence of Modified Fucoidan and Related Sulfated Oligosaccharides on Hematopoiesis in Cyclophosphamide-Induced Mice

Marine Drugs ◽  
2018 ◽  
Vol 16 (9) ◽  
pp. 333 ◽  
Author(s):  
Natalia Anisimova ◽  
Nadezhda Ustyuzhanina ◽  
Maria Bilan ◽  
Fedor Donenko ◽  
Natalia Ushakova ◽  
...  
Keyword(s):  
Brown Seaweed ◽  
Mechanisms Of Action ◽  
Adverse Side Effect ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Sulfated Oligosaccharides ◽  
Blood Neutrophils ◽  
The Difference ◽  
Stimulating Factor

Immunosuppression derived after cytostatics application in cancer chemotherapy is considered as an adverse side effect that leads to deterioration of quality of life and risk of infectious diseases. A linear sulfated (1→3)-α-l-fucan M-Fuc prepared by chemical modification of a fucoidan isolated from the brown seaweed Chordaria flagelliformis, along with two structurally related synthetic sulfated oligosaccharides, were studied as stimulators of hematopoiesis on a model of cyclophosphamide immunosuppression in mice. Recombinant granulocyte colony-stimulating factor (r G-CSF), which is currently applied in medicine to treat low blood neutrophils, was used as a reference. Polysaccharide M-Fuc and sulfated difucoside DS did not demonstrate significant effect, while sulfated octasaccharide OS showed higher activity than r G-CSF, causing pronounced neutropoiesis stimulation. In addition, production of erythrocytes and platelets was enhanced after the octasaccharide administration. The assessment of populations of cells in blood and bone marrow of mice revealed the difference in mechanisms of action of OS and r G-CSF.

scholarly journals Quantitative and cell-cycle differences in progenitor cells mobilized by recombinant human interleukin-7 and recombinant human granulocyte colony-stimulating factor

Blood ◽  
1996 ◽  
Vol 88 (11) ◽  
pp. 4139-4148 ◽  
Author(s):  
KJ Grzegorzewski ◽  
KL Komschlies ◽  
JL Franco ◽  
FW Ruscetti ◽  
JR Keller ◽  
...  
Keyword(s):  
Stem Cells ◽  
Progenitor Cells ◽  
Combined Treatment ◽  
Fold Increase ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Interleukin 7 ◽  
Stimulating Factor

Administration of recombinant human interleukin-7 (rhIL-7) to mice increases the exportation of myeloid progenitors (colony-forming unit [CFU]-c and CFU-granulocyte erythroid megakaryocyte macrophage [CFU-GEMM]) from the bone marrow (BM) to peripheral organs, including blood, and also increases the number of primitive progenitor and stem cells in the peripheral blood (PB). We now report that combined treatment of mice with rhIL-7 and recombinant human granulocyte-colony stimulating factor (rhG-CSF) stimulates a twofold to 10-fold increase in the total number of PB CFU-c, and a twofold to fivefold increase in the total number of PB CFU-spleen at day 8 (CFU-S8) over the increase stimulated by rhIL-7 or rhG-CSF alone. In addition, the quality of mobilized cells with trilineage, long-term marrow-repopulating activity is maintained or increased in mice treated with rhIL-7 and rhG-CSF compared with rhIL-7 or rhG-CSF alone. These differences in mobilizing efficiency suggest qualitative differences in the mechanisms by which rhIL-7 and rhG-CSF mobilize progenitor cells, in fact, the functional status of progenitor cells mobilized by rhIL-7 differs from that of cells mobilized by rhG-CSF in that the incidence of actively cycling (S-phase) progenitors obtained from the PB is about 20-fold higher for rhIL-7-treated mice than for mice treated with rhG-CSF. These results suggest the use of rhIL-7-mobilized progenitor/stem cells for gene-modification and tracking studies, and highlight different functions and rates of repopulation after reconstitution with PB leukocytes obtained from mice treated with rhIL-7 versus rhG-CSF.

High-Dose Sequential Chemotherapy With Recombinant Granulocyte Colony-Stimulating Factor and Repeated Stem-Cell Support for Inflammatory Breast Cancer Patients: Does Impact on Quality of Life Jeopardize Feasibility and Acceptability of Treatment?

2000 ◽  
Vol 18 (4) ◽  
pp. 754-754 ◽  
Author(s):  
Geneviève Macquart-Moulin ◽  
Patrice Viens ◽  
Thao Palangié ◽  
Marie-Laure Bouscary ◽  
Thierry Delozier ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Quality Of Life ◽  
High Dose Chemotherapy ◽  
High Dose ◽  
Granulocyte Colony Stimulating Factor ◽  
Eortc Qlq C30 ◽  
Eortc Qlq ◽  
Stimulating Factor ◽  
Cell Support

PURPOSE: This study was designed to investigate the quality of life (QOL) of patients enrolled onto the High-Dose Chemotherapy for Breast Cancer Study Group trial (PEGASE 02), a French pilot multicenter trial of the treatment of inflammatory breast cancer (IBC) aimed at evaluating (1) toxicity and feasibility of sequential high-dose chemotherapy (HDC) with recombinant human granulocyte colony-stimulating factor (filgrastim) and stem-cell support and (2) response to HDC in terms of pathologic response and survival. PATIENTS AND METHODS: QOL measures were performed at inclusion and four times subsequently up to 1 year using an ad hoc side-effect questionnaire (19 physical symptoms) and the European Organization for Research and Treatment of Cancer Quality-of-Life Questionnaire (EORTC QLQ-C30). RESULTS: Of the 95 patients entered, the overall QOL questionnaire completion compliance was 75.6%. During cycle 3 of HDC, the number of symptoms was high (mean ± SD QOL score, 10 ± 3), with fatigue, hair loss, appetite loss, nausea, change in taste, vomiting, fever, and weight loss reported by more than 60% of patients. Toxicity and distress associated with HDC were reflected in the decline of four EORTC QLQ-C30 scores: global QOL (P = .001), and physical, role, and social functioning (P < .001 for all statistics). However, QOL deterioration disappeared after treatment completion, except for physical functioning (P = .025). One year after inclusion, most QOL scores returned to baseline, and both emotional functioning and global QOL scores were even higher than baseline (P = .030 and P = .009, respectively). CONCLUSION: If it is confirmed that improvements in pathologic response rates with HDC effectively translate into increased probabilities of survival for IBC patients, adoption of such treatment as PEGASE 02 will not involve crucial choices between length of life and QOL and should not be delayed for QOL arguments.

scholarly journals Orthodontic, Maxillofacial Surgery, and Prosthodontic Rehabilitation Supported by Miniscrew in a Patient with Cleft Lip and Palate

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Alberto De Stefani ◽  
Giovanni Bruno ◽  
Martina Barone ◽  
Antonio Gracco
Keyword(s):  
Cleft Lip ◽  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Cleft Lip And Palate ◽  
Maxillofacial Surgery ◽  
Prosthetic Rehabilitation ◽  
Orthodontic Therapy ◽  
Curve Of Spee ◽  
Adequate Management

Aim. This paper is aimed at reporting the clinical case of a patient with cleft lip and palate treated with a multidisciplinary approach. Case Report. An 11-year-old patient presented cleft lip and palate, with persistent oronasal communication, tooth displacement, and upper and lower crowding with a deep curve of Spee. He was treated with metal bracket orthodontic therapy, graft surgery, and prosthetic rehabilitation supported by miniscrews. Conclusions. Cleft lip and/or palate patients require adequate management of the case to resolve the anomalies connected to their condition and to improve their quality of life.

Variable Clinical Phenotype and Course In Greek Patients with Shwachman-Diamond Syndrome Carrying Identical SBDS Mutations

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4431-4431
Author(s):  
Polyxeni Delaporta ◽  
Christalena Sofocleous ◽  
Stavros Doudounakis ◽  
Marina Economou ◽  
Emmanouil Kanavakis ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Cells ◽  
Clinical Phenotype ◽  
Pancreatic Insufficiency ◽  
Pancreatic Enzyme ◽  
Granulocyte Colony Stimulating Factor ◽  
Foramen Ovale ◽  
Shwachman Diamond Syndrome ◽  
Enzyme Supplementation ◽  
Stimulating Factor

Abstract Abstract 4431 Introduction-Background: Shwachman-Diamond syndrome (SDS) is a rare multi-system genetic disorder mainly characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Approximately 90% of patients meeting the clinical diagnostic criteria for SDS have mutations in the SBDS gene, located in chromosome 7q11. No genotype-phenotype correlations have been observed in patients with SDS. Patients and Method: Greek patients with similar SBDS mutations are included in this report. They were selected from the series of patients referred to our unit for SBDS gene molecular analysis due to pancreatic insufficiency and impaired hematopoiesis. Patient 1 presented at birth with respiratory difficulties, hypotonia, anemia, neutropenia and thrombocytopenia. She has congenital anomalies including thoracic dystrophy, digit abnormalities, open foramen ovale and hypertelorism. She was found to have myelodysplasia with a bone marrow clone carrying i(7q) chromosomal abnormality in around 32% of the bone marrow cells. Pancreatic insufficiency was clinically evident even at the age of 5 months. Patient 2 has chronic thrombocytopenia ranging between 40.000/μ L to 147.000/μ L, first presenting at the age of 7 years old. She has metaphyseal dysostosis, flared anterior end of ribs, open foramen ovale and growth hormone deficiency. Her pancreatic insufficiency is present from the age of 16 months. Patient 3 (sister of patient 2) has borderline neutropenia, short stature, metaphyseal dysostosis, open foramen ovale and mild pancreatic insufficiency. Patient 4 has thrombocytopenia since the age of 19 years old. She has stable clonal erythropoesis with a clone carrying the 46,X,del(X)(q24→qter) in 45% of the bone marrow cells. She presents recurrent bacterial infections, particularly bartholinitis. She has mild pancreatic insufficiency. Patient 5 presented with chronic neutropenia and decreaced IgA since the age of 2 months. At the age of 12 months she presented hepatomegaly and elevated liver enzymes. Pancreatic insufficiency initially presented in infancy but improved gradually. Genomic DNA was extracted from peripheral blood lymphocytes and molecular analysis with ECMA (Enzymatic Cleavage Mismatch Analysis), RFLPS and direct sequencing was performed allowing detection and characterization of disease causing mutations. PCR primers were specifically designed to amplify the whole coding region (five exons) and the flanking intron/exon junctions of SBDS gene but not the SBDSP pseudogene. RFLPs used the Bsu36I and AciI enzymes for the detection of the two most common c.183-184 TA>CT and 258+2 T>C mutations respectively. Result: All five patients were compound heterozygotes for 183–184 TA>CT and 258+2 T>C, which are the two most common mutations of SDS. One of those (patient 3) was found to be a mosaic which seems to explain the very mild phenotype, and another (patient 5) presented homozygosity for the 258+2 T>C while carrying the 183–184 TA>CT mutation as well. Patient 1 was successfully transplanted by her HLA-identical sister at the age of 12 months. Her pancreatic insufficiency has not improved and she is still on pancreatic enzyme supplementation. Patient 2 is receiving pancreatic enzyme supplementation and also is currently on growth hormone supplementation. Patients 3 and 4 are not receiving pancreatic enzyme supplementation or granulocyte colony-stimulating factor. Patient 5 is currently receiving only granulocyte colony-stimulating factor. Conclusion: Extreme variability ranging from severe clinical phenotype apparent at birth to close-to- normal phenotype in early adulthood was noted in this small series of Greek patients, carrying similar SBDS mutations. Moreover, gene conversion seems to be a frequent event in the SBDS gene. Further studies to evaluate the heterogeneity and the factors affecting the phenotype/genotype relationship in SDS are warranted. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Multiplication of the Enterocyte Mass by Serosal Patch Technique / Umnožavanje Enterocitne Mase Tehnikom Seroznog Patch-A

2015 ◽  
Vol 65 (2) ◽  
pp. 162-174
Author(s):  
P. Slobodan Grebeldinger ◽  
S. Branka Radojčić ◽  
N. Jelena Ćulafić ◽  
M. Bojana Andrejić Višnjić
Keyword(s):  
Small Intestine ◽  
Control Group ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Hematopoietic Stem ◽  
Macrophage Colony Stimulating Factor ◽  
Macrophage Colony ◽  
Patch Technique ◽  
Stimulating Factor

Abstract Damage to the small intestine and impairment of the intestinal epithelium occur in various diseases, resulting in a need for new epithelium. Therefore, bioengineering of the small intestine is becoming an attractive field of research where all contributions are highly appreciated. The purpose of this study was to determine the possibility of the multiplication of the enterocyte mass using the technique of serosal patch with the application of hematopoietic stem cells, as well as the assessment of the quality of newly formed mucosa. Sixty Mill Hill hooded rats were divided in 4 groups, 15 animals each. In the control group animals, the patch was not created. In the other three groups, the animals were operated on and in each group 8 parietal and 7 visceral patches have been created. One of the groups with operated animals (Group NS) was not postoperatively treated. The second group of operated animals (Group G) was stimulated with granulocyte colony-stimulating factor (G-CSF). The third group of operated animals (Group GM) was stimulated with recombined humane granulocyte-macrophage colony-stimulating factor (rHuGM-CSF). In the group of animals that were not stimulated, epithelium proliferated slowly. In the group of animals stimulated with G-CSF stimulants, the epithelium initially proliferated rapidly, but appeared atrophic after eight weeks. Stimulation by rHuGM-CSF led to faster epithelization, and epithelium showed signs of advancing proliferation after eight weeks. We confirmed the possibility of enterocyte mass multiplication by using the serosal patch technique, as well as that stimulation with rHuGM-CSF is more effective than stimulation with G-CSF.

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