Patients erdheim chester disease. Medical search. Frequent questions

In 1994, after three years of progressive neurological dysfunction, diagnosis of Erdheim-Chester disease was made by analysis of biopsies of the femur bones, showing infiltration with foamy histiocytes lacking Birbeck granules and S-100 protein, and with few lymphocytes. (bmj.com)
Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless, and in most cases it occurs several years before the final diagnosis. (wikipedia.org)
The presence of symmetrical cerebellar and pontine signal changes on T2-weighted images seem to be typical of ECD, however, multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis. (wikipedia.org)
In 2019, the Mayo Clinic published guidelines for the diagnosis and treatment of the disease, stressing the importance of genetic testing: "Recent insights into their genomic architecture demonstrating mitogen-activated protein kinase/extracellular signal-regulated kinase pathway mutations have now enabled potential treatment with targeted therapies in most patients. (wikipedia.org)
Genetic analysis of histopathological samples detected a V600E or V600Ec missense variant within codon 600 of the BRAF genewith BRAF variants, confirming the diagnosis of Erdheim-Chester disease (ECD). (bmj.com)
Dedicated to promoting scientific research to uncover the causes of histiocytic diseases and ensure early diagnosis, effective treatment and a cure. (histio.org)
The diagnosis of RPF requires a high degree of suspicion, and the evaluation of patients with presumed idiopathic RPF includes ruling out secondary RPF due to malignancy, infection, retroperitoneal injury, or drugs. (medscape.com)
Biopsy and histologic/immunohistochemical examination of the affected tissue can aid in the diagnosis and determination of the extent of the disease, which in turn affect treatment management strategies. (medscape.com)
Optimal care in patients with RPF requires an integrated approach of surgical and nonsurgical therapies, and depends on the stage of the disease at diagnosis. (medscape.com)
From an initial retrospective review of 1543 patients with a diagnosis of intraocular and/or orbital spaceoccupied lesions, 8 patients (4 males and 4 females) with a coexistence of both intraocular and orbital mass lesions were identified. (omicsonline.org)
The role of transbronchial lung biopsy for the diagnosis of diffuse drug-induced lung disease: a case series of 44 patients. (google.it)
used in PET imaging for the diagnosis of Alzheimer's disease. (drugbank.com)
The creation of an International Rare Histiocytic Disorders Registry (IRHDR) will facilitate a uniform diagnosis of the RHDs, as well as the collection and analysis of the clinical, epidemiological, treatment and survival data of patients with RHD. (histiocytesociety.org)
Histiocytosis UK is dedicated to promoting and funding scientific research into uncovering not only the causes of all histiocytic diseases, which include Langerhans's Cell Histiocytosis and Haemophagocytic Lymphohistiocytosis, but also ensuring early diagnosis, effective treatment and a cure. (histiouk.org)
Most patients have multiorgan involvement at the time of diagnosis but tend to have one dominant phenotype. (msdmanuals.com)

Erdheim-Chester disease is a rare, non-Langerhans form of systemic histiocytosis of unknown aetiology. (bmj.com)
Erdheim-Chester disease (ECD) is an extremely rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). (wikipedia.org)
The Memorial Sloan Kettering Make-an-IMPACT Initiative is a rare-cancer global outreach initiative that provides free genomic profiling for patients with Langerhans Cell Histiocytosis (LCH), Erdheim-Chester Disease (ECD), Rosai-Dorfman Disease (RDD), Juvenile Xanthogranuloma (JXG), and Histiocytic Sarcoma (HS). (histio.org)
Oral MEK1/2 inhibitor cobimetinib (Cotellic) has received approval by the FDA for the treatment of patients with histiocytic neoplasms including Erdheim-Chester disease, Rosai-Dorfman disease, and Langerhans cell histiocytosis. (cancernetwork.com)
There has always been an unmet need for patients with histiocytosis, and we are thrilled that with this approval, these patients will now have access to a viable treatment option. (cancernetwork.com)
More recently, histiocytic diseases have been reclassified into five groups: (1) Langerhans-related, (2) cutaneous and mucocutaneous, (3) malignant histiocytosis, (4) Rosai-Dorfman disease, and (5) hemophagocytic lymphohistiocytosis and macrophage activation syndrome. (medscape.com)
A drug used to treat Erdheim-Chester disease (a very rare type of histiocytosis) and advanced melanoma that have a certain mutation (change) in the BRAF gene. (medicanthealthcare.com)
Erdheim - Chester disease (ECD) is a rare multi-systemic form of histiocytosis. (fdocument.org)
We pursued target-capture next generation sequencing (NGS) on tissue specimen of patients with various histiocytic neoplasms- Erdheim-Chester disease (ECD), Langerhans cell histiocytosis (LCH), Rosai-Dorfman disease (RDD), histiocytic sarcoma (HS), and Langerhans cell sarcoma (LCS). (tempus.com)
They include Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease. (ucsd.edu)
He also has a special interest in the management of adult histiocytic disorders, especially Langerhans' cell histiocytosis and Erdheim-Chester disease. (hme-forum.com)
No consensus exists for the optimal therapy for Langerhans cell histiocytosis (LCH), particularly in the case of multisystem organ disease. (medscape.com)
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are characterized by a high frequency of BRAFV600E mutations, which are responsive to treatment with BRAF inhibitors such as vemurafenib. (targetedonc.com)
When asked "What does it mean for our paediatric patients of Langerhans Cell Histiocytosis? (histiouk.org)
solid course="kwd-title" Keywords: Erdheim Chester Disease, Langerhans cell histiocytosis, Cladribine, Treatment 1. (bioskinrevive.com)
Launch Erdheim Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis. (bioskinrevive.com)
Additionally, he oversees the UCLH Histiocytosis clinic, where he provides care to patients dealing with rare histiocytic disorders like Langerhans cell histiocytosis and Erdheim Chester disease. (hcahealthcare.co.uk)
Ongoing therapeutic trials address mitochondrial and oxidation-reduction disorders using an investigational drug (EPI-743), the histiocytosis of Erdheim-Chester disease using dabrafenib and trametinib, the myopathy of cystinosis using recombinant human growth hormone, and GNE myopathy using N-acetylmannosamine. (nih.gov)

One is enasidenib, a first-of-its-kind drug for patients with refractory or relapsed acute myeloid leukemia (AML) who have the IDH2 mutation and who became resistant to other treatments. (mskcc.org)

It was approved after showing dramatic efficacy in ECD patients harboring the BRAF V600E mutation. (wikipedia.org)
On February 20, 2012, the European Commission approved vemurafenib as a monotherapy for the treatment of adult patients with BRAF V600E mutation positive unresectable or metastatic melanoma, the most aggressive form of skin cancer. (medicanthealthcare.com)
Genotyping of 69 histiocytic lesions revealed that 23/48 Langerhans cell lesions were BRAF -V600E-mutant whereas all non-Langerhans cell lesions (including dendritic cell sarcoma, juvenile xanthogranuloma, Rosai-Dorfman disease, and granular cell tumor) were wild-type. (oncotarget.com)
A kinase inhibitor used to treat patients with Erdheim-Chester Disease who have the BRAF V600 mutation, and melanoma in patients who have the BRAF V600E mutation. (drugbank.com)
Among the 13 patients with ECD and LCH, BRAF-V600E mutations were found in 8 (62%) cases. (tempus.com)
Analysis of urinary cell-free DNA using allele-specific PCR for BRAF V600E mutations allows rapid noninvasive identification of a highly treatment-responsive pathway, leading to clinical and radiologic remission of disease. (neurology.org)

The clinical picture ranges from focal bone lesions to systemic disease with life threatening visceral involvement. (bmj.com)
By using the company's single-cell functional precision medicine (scFPM) platform at a median follow-up of 23.9 months, 54% of patients experienced a 1.3-fold enhanced clinical progression-free survival (PFS) benefit. (cancernetwork.com)
A retrospective review was performed on cases of Chinese patients with clinical findings of simultaneous intraocular and orbital spaceoccupied lesions. (omicsonline.org)
Erdheim-Chester disease: clinical and radiological findings. (google.it)
On one end, the clinical spectrum includes an acute, fulminant, disseminated disease called Letterer-Siwe disease, and, on the other end, solitary or few, indolent and chronic lesions of bone or other organs called eosinophilic granulomas . (medscape.com)
The intermediate clinical form called Hand-Schüller-Christian disease is characterized by multifocal, chronic involvement and classically presents as the triad of diabetes insipidus, proptosis, and lytic bone lesions. (medscape.com)
The clinical manifestations of the currently recognized disease entities are highly variable and range from benign localized lesions to highly aggressive systemic diseases[ 4 ]. (oncotarget.com)
As a Clinical Neuropathologist I provide diagnostic services for different neurological diseases and in a close collaboration with other team members I help to choose the best available therapy for the patients. (buffalo.edu)
In addition to clinical responsibilities, I am very interested in further research and elucidate mechanisms in tumorigenesis and further improve patient care. (buffalo.edu)
2020) Erdheim-Chester Disease: A review of molecular genetic and clinical features. (buffalo.edu)
The overall clinical response rates were 80.0%, including 33.3% complete response, 36.7% partial response and 10.0% stable disease. (fdocument.org)
Eight of thirteen patients who experienced continuous clinical improvement during follow-up had at least one target lesion SUV increased by FDG-PET which decreased in subsequent scans without changing treatment strategy. (fdocument.org)
His other clinical interests include the management of patients with aplastic anaemia and paroxysmal nocturnal haemoglobinuria (PNH), and he is one of the PNH consultants working in the PNH National Service. (hme-forum.com)
Asked how these findings might affect the treatment of patients with these rare disorders, Abdel-Wahab pointed to the promising efficacy of RAF inhibitors (ie, vemurafenib) in treating patients with BRAFV600E -mutant histiocytic disorder, as seen in results from an ongoing clinical trial (NCT01524978). (targetedonc.com)
I came to MSK in 2007 as a clinical fellow in hematology-oncology, with the intention of becoming a doctor who primarily takes care of patients. (mskcc.org)
With his extensive academic and clinical expertise, Dr. Satyen Gohil stands as a leading figure in the field of haematology, making significant contributions to research and patient care. (hcahealthcare.co.uk)
More studies are needed to better understand the real impact of HEV infection in patients with RDs, regarding both clinical outcomes and their management. (biomedcentral.com)
All of the patients involved in these investigations are enrolled in one of 10 active institutional review board-approved clinical protocols managed by the section. (nih.gov)
Anti-fibrillarin antibody in African American patients with systemic sclerosis: immunogenetics, clinical features, and survival analysis. (cdc.gov)
Clinical characteristics of steroid-responsive but dependent chronic graft-versus-host disease: a multicenter retrospective analysis. (u-tokyo-hemat.com)

he said, “was the consistent difficulty in identifying the BRAFV600E mutation in tissue biopsies from histiocytic disorder patients due to (1) heterogeneity in the cells infiltrating the tumors of these patients, and (2) frequent involvement in areas of the body that are difficult to biopsy and/or genotype in patients with these disorders, including bones and brain. (targetedonc.com)
Describing the key findings of the study, Abdel-Wahab said, “In treatment-naïve patients, all patients whose tissue biopsy revealed the BRAFV600E mutation were identified as having the mutation in cfDNA (ie, 100% sensitivity). (targetedonc.com)
However, several patients whose tissue biopsy result was initially negative were actually revealed to have the mutation based on cfDNA analysis (which was confirmed by repeat tissue biopsy and mutational testing in all cases). (targetedonc.com)
And then we found the BRAF mutation in Erdheim-Chester Disease (ECD), a blood cancer so rare that patients number in the hundreds. (mskcc.org)
This initial work helped Dr. Abeykoon (pictured upper-right) and colleagues subsequently find a rare mutation in the cancer of his patient, Anya Magnuson (pictured lower-right). (conquer.org)
But when Dr. Abeykoon and his research team uncovered a rare mutation in Anya's cancer, the discovery changed the entire course of her treatment - and potentially the outlook for countless patients in the future. (conquer.org)
The UDP phenotypes patients with potentially new diseases, identifies candidate disease-causing genes using single nucleotide polymorphism (SNP) arrays and exome sequencing, and pursues functional evidence that the mutation causes the disease. (nih.gov)

LCH belongs in the first category, along with Erdheim-Chester disease and juvenile xanthogranuloma. (medscape.com)
They include: Juvenile xanthogranuloma family, Erdheim-Chester disease, Multifocal Reticulohistiocytosis, Rosai-Dorfman disease and the Malignant Histiocytoses. (histiocytesociety.org)

Lymph node and pulmonary tuberculosis during upadacitinib treatment in a psoriatic arthritis patient. (uk-erlangen.de)

Rosai-Dorfman disease is a rare disorder characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical lymphadenopathy). (rarediseases.org)
The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected. (rarediseases.org)
The exact cause of Rosai-Dorfman disease is unknown. (rarediseases.org)
The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. (rarediseases.org)
Many individuals with Rosai-Dorfman disease do not develop any additional symptoms of the disorder (asymptomatic). (rarediseases.org)
Skin lesions associated with Rosai-Dorfman disease are usually yellow or purple. (rarediseases.org)
In some cases of Rosai-Dorfman disease, the accumulation of histiocytes into masses may cause compression of vital organs potentially resulting in serious complications. (rarediseases.org)
These cases may be known as isolated Rosai-Dorfman disease. (rarediseases.org)

Patients' ages ranged from 22 months to 71 years (median = 3.0 years) and included 5 cases of retinoblastoma, 1 case of idiopathic inflammatory pseudotumor, 1 case of T-cell lymphoma, and 1 case of Sturge- Weber syndrome. (omicsonline.org)
Rare meets rarer: anti-synthetase syndrome in a patient with facio-scapulo-humeral muscular dystrophy. (uk-erlangen.de)
Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. (cdc.gov)
If you believe the bulletins put out by the American College of Rheumatology, we have pretty much conquered all of the well-known rheumatic conditions and are now simply investigating the really uncommon ones, such as Erdheim-Chester disease or systemic capillary leak syndrome ( The Rheumatologist , February 2017 and December 2016 ). (medscape.com)

It would appear that approximately half these patients harbor point mutations of the BRAF gene at codon 600 substituting the amino acid glutamine for valine. (wikipedia.org)
While for most LCH-patients efficient therapies are available, patients with BRAF mutations may benefit from the BRAF inhibitor vemurafenib. (oncotarget.com)
We found several novel DNA alterations in this study in all disease groups: ECD ( BRAFV471F ), LCH ( MAP2K1 in-frame deletion), and RDD (frameshift mutations of DNMT3A, SMARCA4, KMT2A , and CDC73 truncation). (tempus.com)
Our cohort included one patient with multifocal lymph node LCS that demonstrated NRAS and TP53 mutations, who did not respond to MEK-inhibitor therapy. (tempus.com)
We recently discovered spliceosome mutations in the blood cells of cancer patients. (mskcc.org)
The mutations are often present even before the patient is sick, indicating a pre-leukemia condition. (mskcc.org)
This knowledge helped me to recognize unique mutations in the cancer Anya has, Erdheim-Chester disease, and formulate an effective and novel treatment strategy for her. (conquer.org)
The group has also shown that some patients with elevated 1,25-dihydroxy vitamin D have nephrocalcinosis or nephrolithiasis due to biallelic mutations in CYP24A , the gene encoding the 24-hydroxylase that inactivates vitamin D. Other discoveries include identification of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which glycoproteins fail to properly acquire their carbohydrate moieties. (nih.gov)

Since estimated annual cost of interferon- α (IFN- α ) is only approximately $1600 in China, we retrospectively evaluated the long-term therapeutic efficacy of IFN- α and the value of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) as an assessment method among 32 ECD patients who received high dose IFN- α therapy at Peking Union Medical College Hospital. (fdocument.org)
This may further help in understanding the etiology of these rare diseases, as well as identifying potential therapeutic targets. (histiocytesociety.org)
Generally, the choice of therapeutic regimen is based on disease severity. (medscape.com)
Using sporadic Burkitt lymphoma as our principle disease, we are studying the genetic, transcriptomic and clonal changes which occur in response to therapeutic pressure within patient-derived xenograft models. (ncl.ac.uk)

2021 rare disease resource guide for caregivers published by Global Genes. (histio.org)

The approval was based on findings from a single-institution phase 2 trial (NCT02649972) conducted by Memorial Sloan Kettering Cancer Center (MSKCC) and Genentech in a population of adult patients with histiocytic disorders. (cancernetwork.com)
Histio UK also aims to support patients and their families as well as raise public and professional awareness of histiocytic disorders. (histiouk.org)

Recent studies have reported that some patients receiving targeted therapies showed no disease progression. (wikipedia.org)
Treatment for NHL is based on the type of disease and involves combination therapy or targeted therapies derived from the immunohistochemistry of the tumor. (medscape.com)
The single-cell functional precision medicine treatment, an artificial intelligence strategy helps to create therapies for patients with hematologic cancers. (cancernetwork.com)
Results from the EXALT-1 study highlighted the potential real-world impact of utilizing an artificial intelligence (AI)-supported precision medicine platform to determine the most effective therapies for patients with late-stage hematological cancers, according to a press release from Exscientia. (cancernetwork.com)
I do not believe that lesurinad is a major advancement over existing therapies (despite the hype), because it is contraindicated for patients with compromised renal function. (medscape.com)

The Erdheim-Chester Disease Global Alliance is a support and advocacy group with the goal of raising awareness of and promoting research into ECD. (wikipedia.org)
The ECD Global Alliance (ECDGA) is dedicated to awareness, support, education, and research related to Erdheim-Chester Disease. (histio.org)

Both patients had kidney and bone involvement, established on bone biopsy for one. (bmj.com)
Long bone involvement is almost universal in ECD patients and is bilateral and symmetrical in nature. (wikipedia.org)
The involvement of the hypothalamo-pituitary axis is common and central diabetes insipidus (CDI) is one of the most common endocrine manifestations in ECD patients. (iasp-pain.org)
High-dose IFN- α treatment is a cost-effective option, especially for patients without CNS involvement. (fdocument.org)
They further categorize those cases with single-system involvement by the number of sites within that system (eg, monostotic vs polyostotic bone disease, solitary vs multiple lymph node involvement). (medscape.com)
Psoralen plus ultraviolet A (PUVA) is another effective modality for cutaneous-only LCH or for cutaneous involvement in multisystemic disease. (medscape.com)

Neuroendocrine manifestations of Erdheim-Chester disease. (iasp-pain.org)
Neuroendocrine manifestations are common in Erdheim-Chester disease (ECD) patients. (iasp-pain.org)
Acitretin may also be an effective agent for patients with primarily cutaneous manifestations of LCH. (medscape.com)
This infection has been linked to various extra-hepatic manifestations, while chronic infections with a rapid development of liver failure have been described in heavily immunosuppressed patients undergoing solid organ transplantations (SOTs), in patients with hematological diseases or with immunodeficiency virus infection. (biomedcentral.com)

The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones. (wikipedia.org)
Histiocytoses are rare diseases caused by an excess of cells called histiocytes, which can infiltrate the skin, bones, lungs, liver, spleen and the central nervous system. (histiocytesociety.org)

Treatment of Erdheim-Chester disease with corticosteroids and interferon was ineffective and associated with disease progression. (neurology.org)

Effects of casirivimab/imdevimab on systemic and mucosal immunity against SARS-CoV-2 in B-cell depleted patients with autoimmune rheumatic diseases refractory to vaccination. (uk-erlangen.de)
Hepatitis E Virus and rheumatic diseases: what do rheumatologists need to know? (biomedcentral.com)
Despite recent accumulating literature in this field, little is known about the course of the infection in patients with rheumatic diseases (RDs) and about the impact of immunosuppressive drugs. (biomedcentral.com)
Annals of the rheumatic diseases 2014 Apr 73 (4): 662-7. (cdc.gov)
If the aim is to help patients with rheumatic conditions, we are ceding that to orthopedic surgeons, physical medicine doctors, and pain management physicians. (medscape.com)
There is more to treating patients with rheumatic disorders than working in a lab, writing papers, increasing and decreasing medicine doses, making abstruse diagnoses, and teaching students about synovial fluid characteristics. (medscape.com)

The results of the trial are clear: patients who were treated using recommendations guided by single-cell drug screenings from real-time biopsies remained progression-free longer as compared [with] their previous line of therapy," principal investigator Philipp P. Staber, MD, PhD, a hematologist and oncologist at Medical University Vienna, said in a press release. (cancernetwork.com)
2.?Case A 61-year-old previously healthy man with a brief history of progressive exhaustion, decrease extremity edema, and dyspnea for 4 a few months was hospitalized in an outside service and identified as Rabbit Polyclonal to MMP-8 having a pericardial effusion and bilateral pleural effusions (Fig.?1A and B). Lung, pericardial, and pleural biopsies had been in keeping with Erdheim-Chester disease (ECD) (Fig.?3, Fig.?4). (bioskinrevive.com)

After 12 months on treatment, 23% of patients were progression free compared with 5% on the previous treatment. (cancernetwork.com)
the patient experienced progression after 6 months. (oncotarget.com)
Single target lesion SUV elevation according to FDG-PET do not accurately demonstrate disease progression, but serial FDG-PET imaging effectively discriminate treatment response. (fdocument.org)

The patient was treated with corticosteroids (10 mg prednisone/day) for 2 years without success. (bmj.com)

The patient became stable following treatment with significant improvement in her heart failure symptoms. (bmj.com)
The Rare Lung Disease Program's mission is to provide state of the art collaborative evaluation and treatment for patients with rare lung diseases. (uab.edu)
This program exists to better understand rare lung diseases, train physicians to more completely treat rare lung diseases, and to drive the creation of superior treatment options. (uab.edu)
The study evaluated 76 patients, 56 of whom received treatment according to scFPM and 20 were treated according to physician's choice. (cancernetwork.com)
Patients had a median age of 64 years, and the median number of treatment lines prior to enrollment was 3. (cancernetwork.com)
Patients had an objective response rate of 55% among those whose treatment was guided with scFPM as well as 60% for the lymphoid subgroup and 41% for myeloid neoplasms. (cancernetwork.com)
Characteristics that did not have an impact on PFS included age, sex, lineage, number of previous treatment lines, disease subgroup, and time from sampling to treatment. (cancernetwork.com)
Patients with histiocytic neoplasms can now receive treatment with cobimetinib following its approval by the FDA. (cancernetwork.com)
Nelson J. Chao, MD, MBA, and his colleagues discussed the use of ruxolitinib as treatment for patients with graft-vs-host disease. (cancernetwork.com)
On November 6, 2017, the FDA approved Vemurafenib for the treatment of some patients with Erdheim-Chester disease (ECD), a rare type of histiocytic neoplasm. (medicanthealthcare.com)
He is part of the joint UC San Diego Health / Sharp HealthCare Blood and Marrow Transplantation (BMT) Program , which provides patients with the unique opportunity to receive care from the same physician throughout all phases of blood cancer treatment. (ucsd.edu)
The purpose of this treatment is to induce remission of skin diseases by inducing a repeated and controlled phototoxic reaction. (medscape.com)
Ultraviolet B excimer laser has been found in at least one case report to offer effective adjuvant therapy in the management of cutaneous LCH, and it may be particularly useful for patients with comorbidities who cannot tolerate more aggressive treatment. (medscape.com)
Systemic chemotherapy is indicated for multisystem disease and cases of single-system disease not responsive to other treatment. (medscape.com)
Treatment for ECD is normally reserved for all those with symptomatic disease, asymptomatic CNS participation, or proof organ dysfunction. (bioskinrevive.com)
Supported by a Conquer Cancer grant, Jithma Abeykoon, MD, and his research team mapped the genetic signals of non-Hodgkin lymphoma and created new treatment strategies for patients with rare blood cancers. (conquer.org)
One of the most challenging parts of hematologist/oncologist Dr. Jithma Abeykoon's job is the moment when he realizes that, despite all his best efforts, he's run out of treatment options for his patient. (conquer.org)
Supported by a Conquer Cancer grant, Dr. Abeykoon launched an initial research project to map the genetic signs of non-Hodgkin lymphoma (NHL) and craft new models of treatment for patients with rare blood cancers. (conquer.org)
Through my initial Conquer Cancer grant-supported research, I was able to discover a new treatment strategy with a novel mechanism of action for patients with NHL," says Dr. Abeykoon. (conquer.org)
Your doctor or pharmacist will give you the manufacturer's patient information sheet (Medication Guide) when you begin treatment with vemurafenib and each time you refill your prescription. (medlineplus.gov)
Through understanding the drivers of clonal evolution we want to be able to predict patients more likely to develop therapy resistance and develop treatment strategies to target key resistance mechanisms. (ncl.ac.uk)

Dr. Scadden discusses which blood cancer patients are eligible for stem cell transplantation, as well as the latest advances in the field. (cancernetwork.com)

Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease. (nih.gov)

tuberculosis nervosa fights an not fatal maturity, recognizing composite, hematological and medical diseases. (reconcile-int.org)

Radiation therapy Surgical debulking Ciclosporin Erdheim-Chester disease was previously associated with high mortality rates. (wikipedia.org)

A recent study published in Nucleus highlighted the impact of graft-vs-host disease prophylaxis on cytomegalovirus reactivation. (cancernetwork.com)

RPF can also be associated with Crohn disease, ulcerative colitis, and sclerosing cholangitis. (medscape.com)

Patients demonstrating a concomitant intraocular and orbital spaceoccupied lesion are relatively rare [ 4 , 5 ] and, to the best of our knowledge, this is the first report stressing the underlying causes of concomitant intraocular and intraorbital lesions in the literature. (omicsonline.org)
Arguments supporting the reactive nature of LCH include the occurrence of spontaneous remissions, the extensive elaboration of multiple cytokines by dendritic cells and T-cells (the so-called cytokine storm) in LCH lesions, and the good survival rate in patients without organ dysfunction. (medscape.com)

[ 3 ] Taken together, these findings have led some to speculate that LCH is not a specific disease of epidermal Langerhans cells, but rather one of mononuclear phagocyte dysregulation. (medscape.com)

Recent studies have revealed that disorders affecting anterior pituitary hormones are common in ECD patients. (iasp-pain.org)
Idiopathic nonspecific interstitial pneumonia: an interstitial lung disease associated with autoimmune disorders? (google.it)
Physicians, patients and parents of children with rare histiocytoses frequently consult members of the Histiocyte Society on the management of these disorders. (histiocytesociety.org)
For the past three decades, researchers in the Human Biochemical Genetics Section have studied rare disorders and discovered new diseases, employing the disciplines of biochemistry, cell biology and genetics. (nih.gov)
In aggregate, more than 500 patients with these very rare disorders have been evaluated in just the past five years to accrue cross-sectional and longitudinal data on the natural histories of these diseases for use in future interventional studies. (nih.gov)

can occur, usually in patients who also have autoimmune pancreatitis. (msdmanuals.com)
Autoimmune hypophysitis: There have been case reports where it was noted that patients would eventually develop ESS after autoimmune hypophysitis ( 3 ). (unboundmedicine.com)

He had a different doctor who decided that since his disease is essentially an overproduction of inflammation (in a very basic nutshell), that they should put him on steroids and see how he does. (thecaregiverspace.org)
a disease that causes an overproduction of a type of white blood cells). (medlineplus.gov)

As such, it is difficult to diagnose and can mimic diseases such as multiple sclerosis 1 and other neuroinflammatory diseases. (neurology.org)

Detection of BRAFV600E in Liquid Biopsy from Patients with Papillary Thyroid Cancer Is Associated with Tumor Aggressiveness and Response to Therapy. (nih.gov)
Nasopharyngeal laryngoscopy, fine-needle aspiration cytology, excision lymph-node biopsy (in Hodgkin lymphoma [HL] and non-Hodgkin lymphoma [NHL]), and bone marrow aspiration and biopsy are essential in the workup of patients with head and neck lymphomas. (medscape.com)
ldquo;We repeated tissue biopsy genotyping on these patients with discordant tissue and cfDNA results to evaluate the BRAFV600E mutational status in the tissue. (targetedonc.com)
ldquo;In [the current] study, a tissue biopsy was unsuccessful in determining mutational status in 30% of patients, and was resolved in all patients by a liquid biopsy from urine and/or plasma. (targetedonc.com)

As part of the Rare Lung Disease Clinic Network and member of the Rare Lung Disease Consortium, this program collaborates in the development of novel testing and treatments for rare lung diseases. (uab.edu)
The platform utilizes AI technology to perform a single cell, high content analysis of individual patient tissue samples in order to garner clinically important insights upon which treatments can be based. (cancernetwork.com)

Two patients with Erdheim-Chester disease with progressive cerebellar dysfunction and pyramidal signs are reported on. (bmj.com)
2 Only a few patients with cerebellar dysfunction have been described. (bmj.com)
3 4 We report on two patients with Erdheim-Chester disease with slowly progressive cerebellar dysfunction, associated with pyramidal symptoms. (bmj.com)
A non selective beta-adrenergic antagonist used to treat mild to severe chronic heart failure, hypertension, and left ventricular dysfunction following myocardial infarction in clinically stable patients. (drugbank.com)
Once i include to be Lifetime Employment with disease in dysfunction to Use any rare HyperaldosteronismHyperaldosteronism collection. (reconcile-int.org)

Erdheim Chester disease in a patient with Burkitt lymphoma: a case report and review of literature. (nih.gov)

Idiopathic retroperitoneal fibrosis--is serum alkaline phosphatase a marker of disease activity? (medscape.com)

After the appointment is scheduled, your patient will receive a package containing a schedule of tests and appointments, along with the "UAB Rare Lung Disease Patient Questionnaire," maps, and information on lodging in the Kirklin Clinic area. (uab.edu)

High-resolution CT of nontuberculous mycobacteria pulmonary infection in immunocompetent, non-HIV-positive patients. (google.it)

It's brimming with advice and resources for caregivers of patients with rare diseases. (histio.org)
The organization represents patients, caregivers and medical professionals from around the world. (histio.org)
Cycle of Lives chronicles the lives of 15 people affected by cancer, including patients, doctors, researchers, and caregivers. (schoolandyouth.org)
In Braving Chemo, Harvard-educated physician and cancer survivor Beverly A. Zavaleta MD combines her medical expertise with a survivor's insight to provide practical advice for both chemotherapy patients and cancer caregivers. (schoolandyouth.org)

Pathophysiology reference Immunoglobulin G4-related disease (IgG4-RD) is a chronic immune-mediated fibroinflammatory disorder that often manifests with tumor-like masses and/or painless enlargement of multiple organs. (msdmanuals.com)

Another goal pursued by researchers in the section has been to discover the causes of genetic diseases. (nih.gov)

This revealed that cfDNA analysis actually had improved sensitivity over tissue-based genotyping in histiocytic disorder patients. (targetedonc.com)

Neutralizing monoclonal antibodies against SARS-CoV-2 for COVID-19 pneumonia in a rituximab treated patient with systemic sclerosis-A case report and literature review. (uk-erlangen.de)

The new doctor is already treating another patient with Erdheim-Chester Disease in the same practice. (thecaregiverspace.org)

Of the 76 patients who had mammograms performed prior to surgery, 81 cancers were found. (annals.edu.sg)
The knowledge we acquire by studying rare diseases can be disseminated to successfully study other cancers. (conquer.org)

Intravenous urogram in a patient with retroperitoneal fibrosis shows medial deviation of the middle part of both ureters. (medscape.com)
Postoperative regression of retroperitoneal fibrosis in patients with inflammatory abdominal aortic aneurysms: evaluation with spiral computed tomography. (medscape.com)
Astudillo L, Alric L, Jamard B, Laroche M. [Retroperitoneal fibrosis in an HLA-B27-positive patient]. (medscape.com)
IgG4-related retroperitoneal fibrosis: a newly characterized disease. (medscape.com)

The patients were identified from pathological reports. (annals.edu.sg)

Prompt Initiation of Conventional Chemotherapy to Avoid Early Death in Patients with Newly Diagnosed Acute Promyelocytic Leukemia. (u-tokyo-hemat.com)

As an additional resource to help patients with the high cost of cancer care, LLS has partnered with Dollar For , an organization that helps patients determine if they are eligible for charity care through their hospital. (lls.org)

Seventeen patients had serial FDG-PET results, nine patients had experienced a partial metabolic response at the last follow-up. (fdocument.org)
Thirty-one patients underwent a total of 81 scans by FDG-PET.Seventeen patients had serial FDG-PET results, nine patients had experienced a partial metabolic response at thelast follow-up. (fdocument.org)

Within this we support a broad spectrum of research with the objective of establishing a cure and eventually preventing the disease as well as sourcing the best information regarding the disease as is available. (histiouk.org)

The research participant can be a patient with a rare histiocytic disorder, or the parent of a patient with minor status with a rare histiocytic disorder. (histiocytesociety.org)

Organisms1

Technology, Industry, Agriculture1

Diagnosis15

Histiocytosis18

Acute Myeloid1

V600E6

Clinical20

Mutation7

Juvenile Xanthogranuloma2

Psoriatic arthritis patient1

Rosai-Dorfman8

Syndrome4

Mutations8

Therapeutic4

20211

Histiocytic disorders2

Therapies5

Global Alliance2

Involvement6

Manifestations4

Histiocytes2

Interferon1

Rheumatic6

Biopsies2

Progression3

Corticosteroids1

Treatment21

Stem cell transplant1

Hypothyroidism1

Hematological1

Surgical1

Graft-vs-host1

Ulcerative colitis1

Lesions2

Findings1

Disorders5

Autoimmune2

Overproduction2

Multiple sclerosis1

Biopsy4

Treatments2

Dysfunction5

Burkitt1

Idiopathic1

Lung Disease1

Pulmonary1

Caregivers4

Pathophysiology1

Genetic1

Tissue1

Systemic sclerosis1

Practice1

Cancers2

Retroperitoneal fibrosis4

Pathological1

Chemotherapy1

Organization1

Metabolic2

Spectrum1

Rare histiocytic1