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https://www.readbyqxmd.com/read/28194436/real-time-genomic-profiling-of-histiocytoses-identifies-early-kinase-domain-braf-alterations-while-improving-treatment-outcomes
#1
Lynn H Lee, Anjelika Gasilina, Jayeeta Roychoudhury, Jason Clark, Francis X McCormack, Joseph Pressey, Michael S Grimley, Robert Lorsbach, Siraj Ali, Mark Bailey, Philip Stephens, Jeffrey S Ross, Vincent A Miller, Nicolas N Nassar, Ashish R Kumar
Many patients with histiocytic disorders such as Langerhans cell histiocytosis (LCH) or Erdheim-Chester disease (ECD) have treatment-refractory disease or suffer recurrences. Recent findings of gene mutations in histiocytoses have generated options for targeted therapies. We sought to determine the utility of prospective sequencing of select genes to further characterize mutations and identify targeted therapies for patients with histiocytoses. Biopsies of 72 patients with a variety of histiocytoses underwent comprehensive genomic profiling with targeted DNA and RNA sequencing...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28182116/effective-braf-inhibitor-vemurafenib-therapy-in-a-2-year-old-patient-with-sequentially-diagnosed-langerhans-cell-histiocytosis-and-erdheim-chester-disease
#2
Zsófia Váradi, Rita Bánusz, Judit Csomor, Krisztián Kállay, Edit Varga, Gabriella Kertész, Monika Csóka
Erdheim-Chester disease (ECD) is a rare histiocytic disorder, characterized by the xanthomatous infiltration of tissues by CD68-positive and CD1a-/CD100-negative foamy histiocytes. In childhood, ECD is exceptionally rare, and only a dozen cases have been published so far. The cooccurence of Langerhans cell histiocytosis (LCH) and ECD is even rarer. Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD. In his case, conventional LCH treatment proved to be ineffective, but he is the youngest patient who was successfully treated with the BRAF inhibitor vemurafenib...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28123731/bone-langerhans-cell-histiocytosis-with-pulmonary-involvement-in-an-adult-non-smoker-a-case-report-and-brief-review-of-the-literature
#3
Jie Shen, Shicheng Feng
Langerhans cell histiocytosis (LCH) is a rare disease of unknown cause, which encompasses a set of disorders of multiple organs with various clinical presentations that share the common characteristic of sizeable Langerhans cell infiltration. The clinical spectrum of LCH ranges from solitary bone lesions to involvement of other organs. lung involvement in LCH may be part of a multisystem disease, which almost exclusively occurs in adult smokers, while it is overlooked or misdiagnosed in the majority of non-smokers...
January 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28099396/successful-treatment-of-refractory-langerhans-cell-histiocytosis-of-the-choroid-plexus-in-a-child-with-pulse-dexamethasone-and-lenalidomide
#4
Ramya Uppuluri, Sreejith Ramachandrakurup, Ravikanth Balaji, Divya Subburaj, Atish Bakane, Revathi Raj
Refractory/relapsed Langerhans cell histiocytosis (LCH) has a difficult course with a guarded prognosis. Salvage treatments available are both expensive and highly toxic. On the basis of the pathophysiology of LCH, we used a novel protocol including pulse dexamethasone and lenalidomide in a child with refractory LCH involving the choroid plexus, which resulted in durable remission with minimal toxicity. The protocol was extrapolated from the FIRST trial for patients with multiple myeloma. We present the clinical course, treatment protocol, and outcome in this child, who is at present disease free and in remission 18 months posttreatment...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28090481/salvage-treatment-of-relapsed-refractory-lch
#5
Jong Jin Seo
No abstract text is available yet for this article.
December 2016: Blood Research
https://www.readbyqxmd.com/read/28087208/-child-langerhans-cell-histiocytosis
#6
REVIEW
Jean Donadieu, Sébastien Héritier
DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels...
January 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28061539/langerhans-cell-histiocytosis-of-skull-a-retrospective-study-of-18-cases
#7
Xiang-Heng Zhang, Ji Zhang, Zheng-He Chen, Ke Sai, Yin-Sheng Chen, Jian Wang, Chao Ke, Chen-Chen Guo, Zhong-Ping Chen, Yong-Gao Mou
BACKGROUND: The present study presents 18 cases of Chinese patients harboring a Langerhans cell histiocytosis (LCH) of the skull. METHODS: Eighteen consecutive patients were diagnosed as LCH of the skull and confirmed pathologically between March 2002 and February 2014. In the present study, the patients of LCH without skull involvement were excluded. According to disease extent at diagnosis, the 18 LCH patients with skull involvement were divided into three groups: (I) unifocal-monosystem group, including ten cases with solitary skull lesion; (II) multifocal-monosystem group, including two cases with multiple bone lesions and no extra-skeletal involvement; (III) multisystem group, including six cases with LCH lesions involving both skeletal and extra-skeletal system...
November 28, 2016: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/28057035/control-and-eradication-of-porcine-reproductive-and-respiratory-syndrome-virus-type-2-using-a-modified-live-type-2-vaccine-in-combination-with-a-load-close-homogenise-model-an-area-elimination-study
#8
Poul H Rathkjen, Johannes Dall
BACKGROUND: Porcine reproductive and respiratory syndrome virus (PRRSV) causes significant animal and economic losses worldwide. The infection is difficult to control and PRRSV elimination at local level requires coordinated intervention among multiple farms. This case study describes a successful elimination of PRRSV from all 12 herds on the Horne Peninsula, Denmark, using a combination of load, close, homogenise (LCH) using PRRSV type 2 modified-live vaccine, optimised pig flow, and'10 Golden Rules' (10GR) for biosecurity management...
January 5, 2017: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/28032306/the-efficacy-of-an-american-indian-culturally-based-risk-prevention-program-for-upper-elementary-school-youth-residing-on-the-northern-plains-reservations
#9
John J Usera
Culturally-based risk behavior prevention programs for American Indian elementary school children are sparse. Thus a group of American Indian educators collaborated in the creation of a program that helps children make healthy decisions based on their cultural and traditional value system. In this paper the effectiveness of Lakota Circles of Hope (LCH), an elementary school culturally-based prevention program was studied and evaluated. Three cohorts of fourth and fifth graders participated in a mixed methods quasi-experimental evaluative research design that included focus groups and surveys prior to and following the intervention...
December 29, 2016: Journal of Primary Prevention
https://www.readbyqxmd.com/read/27951529/predictor-variables-of-developing-anterior-pituitary-deficiencies-in-a-group-of-paediatric-patients-with-central-diabetes-insipidus-and-langerhans-cell-histiocytosis
#10
Elisa Vaiani, Carmen Malossetti, Lina Margarita Vega, Pedro Zubizarreta, Jorge Braier, Alicia Belgorosky
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unknown etiopathogenesis. Central diabetes insipidus (CDI) is the most frequent endocrine manifestation and is a known risk factor for the development of further anterior pituitary hormone deficiencies (APD). However, not all CDI patients develop APD, as observed during prolonged periods of follow-up. AIM: To find predictors of developing APD in LCH children with CDI followed in our institution...
December 13, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27935269/from-adolescent-to-elder-rats-motivation-for-palatable-food-and-cannabinoids-receptors
#11
Amancio-Belmont Octavio, Romano-López Antonio, Ruiz-Contreras Alejandra Evelin, Méndez-Díaz Mónica, Prospéro-García Oscar
To analyze motivation, food self-administration and decision-making were evaluated in adolescent, adult, and aged rats. Subjects were trained to press a lever (fixed ratio, FR1 and FR5) in an operant chamber, to obtain chocolate flavor pellets. They assessed the progressive ratio (PR), extinction, and reinstatement of the behavior. To estimate decision-making for food, rats were trained in the conditioned place preference (CPP) paradigm: (a) associating one compartment with lab chow (LCh) one day and the other compartment with rice krisspies (RK), the next day...
December 9, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#12
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27915331/screening-of-bioactive-ingredients-in-ligusticum-chuanxiong-hort-for-protection-against-myocardial-ischemia
#13
Xu Liu, Xiuzhong Li, Songgang Ji, Xiaobo Cui, Mingchun Li
BACKGROUND/AIMS: To study the spectrum-effect relationship and effective components of Ligusticum Chuanxiong Hort. (LCH) on the protection of canine myocardial ischemia. METHODS: Fingerprint spectrum of LCH extracts was developed using high performance liquid chromatography (HPLC), and a canine model of acute myocardial ischemia was established by ligating the coronary artery. Bivariate correlation analysis and multivariate regression analysis were used to correlate the pharmacodynamics of LCH extract and its common peaks in HPLC...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27908938/a-rare-case-of-extensive-cranial-langerhans-cell-histiocytosis-synchronously-presenting-as-otitis-externa-and-giant-cell-arteritis
#14
Adnan Darr, Zahir Mughal, Thomas Martin
Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unpredictable clinical course and varied modes of presentation. The spectrum of presentation is wide, ranging from isolated eosinophilic granulomas to multiple lesions and diffuse systemic involvement. We present the case of a 52-year-old man, who presented with an 8-week history of worsening otalgia and superficial temporal tenderness attributed to otitis externa within the community and subsequently giant cell arteritis. Computed tomography and magnetic resonance imaging were undertaken due to atypical features, which demonstrated bony destruction within the right greater wing of the sphenoid, squamous part of temporal and mastoid bone, with middle cranial fossa communication...
December 1, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27902613/lobular-capillary-hemangioma-of-the-tracheobronchial-tree-a-case-report-and-literature-review
#15
REVIEW
Xiaojian Qiu, Zhiwu Dong, Jie Zhang, Jin Yu
RATIONALE: Lobular capillary hemangioma (LCH) of the tracheobronchial tree is a rare benign tumor, whose characteristics and treatments remain relatively unknown. PATIENT CONCERNS: A 39-year-old man with hemoptysis caused by neoplasm in the bronchus intermedius was admitted to our hospital. DIAGNOSES: The patient was diagnosed with LCH. INTERVENTIONS: The lesions were removed with biopsy forceps, and cryotherapy was performed...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27898473/histopathological-and-clinical-findings-in-cutaneous-manifestation-of-erdheim-chester-disease-and-langerhans-cell-histiocytosis-overlap-syndrome-associated-with-the-brafv600e-mutation
#16
Julia Liersch, J Andrew Carlson, Jörg Schaller
The overlap of Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) is more common than it was generally accepted. Both diseases seem to be linked by a mutation in oncogenic BRAFV600E, probably an early event which occurs in bone marrow progenitor cells. In this article are described the clinical and histological findings in 2 cases of ECD-LCH overlap syndrome bearing the BRAFV600E mutation in both ECD and LCH lesions in bone and skin. In one case, lesions of ECD and LCH were situated directly site-to-site in the same bone section leading to the assumption of a common myeloid precursor cell for these diseases...
November 23, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27894453/usual-and-unusual-manifestations-of-familial-hemophagocytic-lymphohistiocytosis-and-langerhans-cell-histiocytosis
#17
REVIEW
Craig Erker, Paul Harker-Murray, Julie-An Talano
Familial hemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH) are histiocytic diseases that occur most commonly in young children. Improvements in recognition and treatment have been substantial for both diseases in the past decade, although early and late morbidity continue to be major concerns. These two diagnoses behave differently, although the clinical spectra for both diseases are diverse and can lead to confusion and delays in diagnosis and treatment. This article focuses on the clinical and genetic spectrum of FHL as well as the clinical and treatment variations of LCH...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27867869/thyroid-langerhans-cell-histiocytosis-and-papillary-thyroid-carcinoma
#18
Rajab AlZahrani, Mohammed Algarni, Hadi Alhakami, Haia AlSubayea, Naif Alfattani, Mohammet Guler, Mohamed Satti
A 27-year-old female, married with two children, presented to our clinic with a 1-year history of thyroid swelling and pressure symptoms on lying backward and bilateral cervical lymphadenopathy. The patient was a known case of panhypopituitarism for 5 years. Comprehensive patient evaluation including FNAC with papillary thyroid cancer result then she underwent total thyroidectomy and bilateral neck dissection and final histologic examination confirmed papillary thyroid carcinoma in the background of lymphocytic thyroiditis, associated with Langerhans cell histiocytosis (LCH)...
October 2016: Gland Surgery
https://www.readbyqxmd.com/read/27862059/comprehensive-analysis-of-host-cell-impurities-in-monoclonal-antibodies-with-improved-sensitivity-by-capillary-zone-electrophoresis-mass-spectrometry
#19
Zhenbin Zhang, Thomas Albanetti, Travis Linkous, Christopher J Larkin, Ronald Schoner, James B McGivney, Norman J Dovichi
Four methods were compared for analysis of host-cell protein (HCP) impurities in a recombinant mAb. First, CZE-MS/MS was used to analyze the digest of an HCP sample following extraction of the mAb with proteins A and L affinity columns; 220 protein groups and 976 peptides were identified from the depleted HCP digest. Second, a nanoACQUITY UltraPerformance LCH system was also used to analyze the depleted HCP digest; 34 protein groups and 53 peptides from 50 ng of the depleted HCP digest and 290 protein groups and 1011 peptides were identified from 1 μg of the depleted HCP digest...
November 12, 2016: Electrophoresis
https://www.readbyqxmd.com/read/27846659/the-non-langerhans-cell-histiocytoses-rare-histiocytoses-clinical-aspects-and-therapeutic-approaches
#20
C F Classen, M Minkov, T Lehrnbecher
Rare histiocytoses, also called non-Langerhans cell histiocytoses, include all proliferative disorders of histiocytes, macrophages and dendritic cells that are not classified as Langerhans cell histiocytosis (LCH) and do not belong to the hemophagocytic lymphohistiocytosis (HLH) group of diseases. Thus, the term includes numerous benign or malignant, localized or systemic, adult or pediatric diseases. The classification of the histiocytic disorders has been revised several times. Here, we follow the classification recently published by Jean Francois Emile and an international expert panel, defining subgroups of histiocytoses described as L-Group, C-Group, M-Group, R-Group, and H-Group, which stands for LCH-like, cutaneous or mucocutaneous, malignant, Rosai-Dorfman-Disease like and HLH like...
November 2016: Klinische Pädiatrie
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