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  • total-body irradi
  • Compare the therapeutic effects of these cytoreduction regimens with those reported in the literature for similar patients who undergo syngeneic or allogeneic marrow transplantation following cytoreduction that includes total-body irradiation. (clinicaltrials.gov)
  • After a reduced-intensity conditioning regimen using volumetric-modulated arc therapy (VMAT)-delivered low-dose total body irradiation (TBI) with highly conformal marrow boosting, patients will be transplanted using either a related or unrelated allograft. (clinicaltrials.gov)
  • genetic
  • 1 Congenital disorders account for approximately one third of cases of bone marrow failure in childhood and include many different genetic diseases, such as Fanconi anemia, dyskeratosis congenita (DC), 2 Diamond-Blackfan anemia (DBA) 3 and others. (haematologica.org)
  • Tsangaris E, Klaassen R, Fernandez CV et al (2011) Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. (springermedizin.de)
  • Accordingly, Omenn syndrome is best viewed, not as a specific form of SCID, but rather as an aberrant inflammatory condition that can be associated with multiple genetic abnormalities, which can significantly impair (but not abolish) T-cell development in the thymus. (medscape.com)
  • Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome. (wikipedia.org)
  • Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. (wikipedia.org)
  • However Professor Hobbs had founded the COrrection of GEnetic diseases by Transplantation or COGENT movement, with a charitable trust which attracted £13 million 1971-2007. (wikipedia.org)
  • It is thought that genetic defects may introduce the additional abnormalities necessary to transform CLL cells into Richter's syndrome cells. (wikipedia.org)
  • neutropenia
  • citation needed] WHIM syndrome is a very rare variant of severe congenital neutropenia that presents with warts, hypogammaglobunemia, infections, and myelokathexis. (wikipedia.org)
  • Fanconi
  • Children with Down syndrome are susceptible to MDS, and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia. (wikipedia.org)
  • thymus
  • Nezelof syndrome (also known as Thymic dysplasia with normal immunoglobulins) is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. (wikipedia.org)
  • the condition is thought to be a variation of severe combined immunodeficiency(SCID) However, the precise cause of Nezelof syndrome remains uncertain In the mechanism of this condition, one first finds that the normal function of the thymus has it being important in T-cell development and release into the body's blood circulation Hassal's corpusclesabsence in thymus(atrophy) has an effect on T-cells. (wikipedia.org)
  • occur
  • This female infant died before bone marrow stem cell engraftment could occur, when varicella became resistant to acyclovir. (medscape.com)
  • However, Omenn syndrome is now known to occur in other leaky SCIDs with mutations in the RNA component of mitochondrial RNA processing endoribonuclease, adenosine deaminase, interleukin 2 (IL-2) receptor gamma, interleukin 7 (IL-7) receptor alpha, the nuclease ARTEMIS, and DNA ligase 4. (medscape.com)
  • For the circulatory system and bone marrow in which cells can occur in a liquid suspension and not bound up in solid tissue, it makes sense for them to communicate by soluble, circulating protein molecules. (wikipedia.org)
  • These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. (wikipedia.org)
  • childhood
  • Gianotti-Crosti syndrome (English: /dʒəˈnɒti/ /ˈkrɔːsti/), also known as infantile papular acrodermatitis, papular acrodermatitis of childhood, and papulovesicular acrolocated syndrome, is a reaction of the skin to a viral infection. (wikipedia.org)
  • Omenn Syndrome
  • Omenn syndrome (MIM 603554) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive , lymphadenopathy , and hepatosplenomegaly (see the image below). (medscape.com)
  • A unique dermatitis characterizes Omenn syndrome. (medscape.com)
  • Lymphedema, a characteristic of Omenn syndrome, is also shown. (medscape.com)
  • The mutations in RAG-1 and RAG-2 in Omenn syndrome differ from T-cell negative (T - ), B-cell negative (B - ), and natural killer cell positive (NKC + ) SCID caused by RAG-1 or RAG-2 mutations. (medscape.com)
  • In Omenn syndrome, the mutated RAG-1 and RAG-2 proteins remain normally distributed in the nucleus of cells. (medscape.com)
  • Omenn syndrome has been identified in leaky SCIDs caused by hypomorphic mutations in recombinase genes RAG-1 and RAG-2 , which impair but do not eliminate recombination of variable, diversity, and joining (VDJ) segments of TCR and Ig genes. (medscape.com)
  • Most cases of Omenn syndrome reported so far are associated with hypomorphic mutations in RAG-1/RAG-2 genes. (medscape.com)
  • Thus, Omenn syndrome is a distinct inflammatory process that can be associated with genetically diverse, leaky SCIDS. (medscape.com)
  • Omenn Syndrome is characterised by the loss of T-cell function, leading to engraftment of maternal lymphocytes in the foetus and the co-existence of clonally expanded autologous and transplacental-acquired maternal lymphocytes. (wikipedia.org)
  • Omenn syndrome can occasionally be caused in other recombination genes, including IL-7Rα and RMRP. (wikipedia.org)
  • symptoms
  • Some of the symptoms and signs of IPEX syndrome are the following: Lymphadenopathy Eczema Hypothyroidism Diarrhea Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is inherited in males via an x-linked recessive manner. (wikipedia.org)
  • Other symptoms are: Bronchiectasis Hepatosplenomegaly Pyoderma Emphysema Diarrhea Genetically speaking, Nezelof syndrome is autosomal recessive. (wikipedia.org)
  • Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk (dwarfism), dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (hepatomegaly) or spleen (splenomegaly), hernias, and excessive body hair growth. (wikipedia.org)
  • respiratory
  • A patient presenting with hyper IgM syndrome may be affected by simple infectious organisms in exposed regions like the respiratory system. (wikipedia.org)
  • treatment
  • With the advent of bone marrow transplanation, most later reported cases have been in those undergoing treatment for leukemia. (wikipedia.org)
  • Richter's syndrome (RS), also known as Richter's transformation, is a transformation which occurs in about 5-10% of B cell chronic lymphocytic leukemia (CLL) and hairy cell leukemia into a fast-growing diffuse large B cell lymphoma, a variety of non-Hodgkin lymphoma which is refractory to treatment and carries a bad prognosis. (wikipedia.org)
  • lymphocyte
  • Type 2 - unlike type 1 - is not associated primary neurological disease but is associated with an uncontrolled T lymphocyte expansion and macrophage activation syndrome. (wikipedia.org)
  • doses
  • 5 doses of 160cGy for marrow boosting - 1000cGy cumulative exposure] by Volumetric-Modulated Arc Therapy [VMAT] on days -3 through -1). (clinicaltrials.gov)
  • blasts
  • Some types have an increase in immature blood cells, called blasts, in the bone marrow or blood. (wikipedia.org)
  • The outlook depends on the type of cells affected, the number of blasts in the bone marrow or blood, and the changes present in the chromosomes of the affected cells. (wikipedia.org)
  • allogeneic
  • Voriconazole is used to treat invasive aspergillosis and candidiasis and fungal infections caused by Scedosporium and Fusarium species, which may occur in immunocompromised patients, including people undergoing allogeneic bone marrow transplant (BMT), who have hematologic cancers or who undergo organ transplants. (wikipedia.org)
  • malignant
  • Malignant infantile osteopetrosis, also known as infantile autosomal recessive osteopetrosis or simply infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis - excessive growth of bone. (wikipedia.org)
  • Failure of remodeling of the distal femoral and proximal humeral metaphyses giving the affected bones a funnel shaped appearance known as (Erlenmeyer flask deformity) Alternating radiolucent femoral metaphyseal bands Pathologic fractures The differential diagnosis of malignant infantile osteopetrosis includes other genetic skeletal dysplasias that cause osteosclerosis. (wikipedia.org)
  • Procedure
  • Called the "Multicenter Study of Cryoablation for Palliation of Painful Bone Metastases", or MOTION, the study aims to assess the effectiveness and safety of cryoablation therapy to treat patients with painful bone metastases and document the effects the procedure has on their condition. (advancingyourhealth.org)
  • Treatment
  • Development of the new methods of treatment of children with acquired and inherited bone marrow failures. (fnkc.ru)
  • Since the implementation of enzyme replacement therapy for Hunter syndrome, lifespans for those without mental handicaps are expected to lengthen since their physical disease appears to improve or stabilize with such treatment. (wikipedia.org)
  • tumor
  • Serious side effects included severe myelosuppression (suppressed activity of bone marrow, which is involved in formation of various blood cells [found in 98% of patients]), disorder of the respiratory system, tumor lysis syndrome, Type III hypersensitivity, venous occlusion, and death. (wikipedia.org)
  • infantile
  • Gianotti-Crosti syndrome (English: /dʒəˈnɒti/ /ˈkrɔːsti/), also known as infantile papular acrodermatitis, papular acrodermatitis of childhood, and papulovesicular acrolocated syndrome, is a reaction of the skin to a viral infection. (wikipedia.org)
  • recessive
  • The syndrome has X-linked recessive inheritance. (wikipedia.org)
  • Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males (X-linked recessive). (wikipedia.org)
  • Hoyeraal-Hreidarsson syndrome (HHS) is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. (wikipedia.org)
  • severe
  • Although Hunter syndrome is associated with a broad spectrum of clinical severity, two main forms can be recognized - severe and mild/attenuated. (wikipedia.org)
  • features
  • Physical appearances of many children with Hunter syndrome include a distinctive coarseness in their facial features, including a prominent forehead, a nose with a flattened bridge, and an enlarged tongue. (wikipedia.org)
  • dysfunction
  • IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. (wikipedia.org)
  • disorder
  • this disorder is a form of plasma cell dyscrasia in which no myeloma protein is detected in serum or urine (at least as determined by conventional laboratory methods) of individuals who have clear evidence of an increase in clonal bone marrow plasma cells and/or evidence of clonal plasma cell-mediated tissue injury (e.g. plasmacytoma tumors). (wikipedia.org)
  • cells
  • It was thought that better survival would result from high doses of chemotherapy/radiotherapy, knocking out the bone marrow, and then injecting previously harvested bone marrow cells in order to regenerate the bone marrow (a bone marrow 'rescue' or autologous bone marrow transplantation). (blogspot.com.au)
  • Diamond-Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. (wikipedia.org)
  • As the buildup of glycosaminoglycans (GAGs) continues throughout the cells of the body, signs of Hunter syndrome become more visible. (wikipedia.org)
  • In some individuals, the disease comes to light only after the cancerous cells overwhelm the bone marrow resulting in anemia producing tiredness or weakness. (wikipedia.org)
  • long-term
  • in long-term use there is a warning of the risk of bone fluorosis and periostitis. (wikipedia.org)
  • Dietary valine restriction selectively depletes long-term repopulating HSC in mouse bone marrow. (wikipedia.org)
  • Long term survival of the transplanted mice was achieved when valine was returned to the diet gradually over a 2 week period to avoid refeeding syndrome. (wikipedia.org)
  • MOTION
  • All major joints (including the wrists, elbows, shoulders, hips, and knees) may be affected by Hunter syndrome, leading to joint stiffness and limited motion. (wikipedia.org)
  • increase
  • The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices. (wikipedia.org)
  • The generalized increase in bone density of the medullary portion predominates with relative sparing of the cortices. (wikipedia.org)
  • storage
  • Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). (wikipedia.org)
  • skin
  • In addition, pebbly, ivory-colored skin lesions may be found on the upper arms, legs, and upper back of some people with Hunter syndrome. (wikipedia.org)
  • people
  • Though the terms "attenuated" or "mild" are used by physicians in comparing people with Hunter syndrome, the effects of even mild disease are quite serious. (wikipedia.org)
  • Some people who have Hunter syndrome experience no mental handicaps and live into their 20s or 30s, with occasional reports of people who have lived into their 50s or 60s. (wikipedia.org)
  • known
  • The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis (MFD) phenotypes are heterogeneous, including RPS26 (the known DBA10 gene), TSR2 which encodes a direct binding partner of RPS26, and RPS28. (wikipedia.org)