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Xing Chen, Gang Ni, Kai He, Zhao-Li Ding, Gui-Mei Li, Adeniyi C Adeola, Robert W Murphy, Wen-Zhi Wang, Ya-Ping Zhang
Capture hybridization coupled with high-throughput sequencing (HTS) has become one of the most popular approaches to address some scientific problems not only for fundamental evolution but also for ecology and human disease in recent years. However, the technical problem of limited probe capture ability affects its widespread application. Here, we propose to capture hybridize long-range DNA fragments for HTS (termed LR-LCH). We provide a case of three amphibian samples to examine LR-LCH with 2 kb libraries and comparison of standard capture hybridization with 480 bp libraries...
2018: Methods in Molecular Biology
Shinsaku Imashuku, Miyako Kobayashi, Yoichi Nishii, Keisuke Nishimura
Diagnosis and treatment of Langerhans cell histiocytosis (LCH) in elderly patients are often difficult. We report here a 61-year-old female suffering from a refractory axillary ulcer for nearly a year, whose biopsy revealed LCH. It was also noted that the patient had other cutaneous papulovesicular eruptions of LCH as well as central diabetes insipidus. The patient was first successfully treated with multiagent chemotherapy (cytosine arabinoside/vinblastine/prednisolone). DDAVP also well controlled diabetes insipidus; however, the axillary ulcer and cutaneous LCH relapsed...
2018: Case Reports in Dermatological Medicine
José Manuel Fernández Armenteros, Nuria Arco Huguet, Veronica Sanmartin Novell, Felip Vilardell Villellas, Ana Velasco Sanchez, Elisa Martró Català, Rosa Maria Martí Laborda, Xavier Soria Gili
Langerhans cell histiocytosis (LCH) is a disorder characterized by accumulation of Langerhans-like cells in one or various organs. A correct staging work-up is essential since there are multiorgan presentations with a poor prognosis. We report three patients with LCH skin lesions mimicking molluscum contagiosum in association with both high and low risk organ involvement. This peculiar cutaneous presentation can be a clue for the diagnosis of LCH, a disease with potentially severe systemic involvement.
March 12, 2018: Pediatric Blood & Cancer
Gaurav Narula, Nirmalaya D Pradhan, Brijesh Arora, Sripad D Banavali
BACKGROUND: Involvement of risk-organs (RO+) in Langerhans cell histiocytosis (LCH) and inadequate early response identifies patients at high risk for relapse and mortality requiring intensive salvage therapy including stem cell transplant, adding cost and toxicity. To mitigate this, we used a standard induction, augmented with metronomic etoposide, and prolonged maintenance-similarly augmented for RO+, and retrospectively analyzed its impact. PROCEDURE: LCH patients from 2009 through 2014 were included...
March 7, 2018: Pediatric Blood & Cancer
XiangYu Xu, SongBo Han, Liang Jiang, ShaoMin Yang, XiaoGuang Liu, HuiShu Yuan, Feng Wei, FengLiang Wu, Lei Dang, Hua Zhou, Hua Zhang, ZhongJun Liu
BACKGROUND CONTEXT: Langerhans cell histiocytosis (LCH) of the spine is a relatively rare condition with unknown etiology. The diagnosis and treatment protocols for spine LCH remain controversial. PURPOSE: In this study, we evaluated the efficacy and safety of our proposed diagnosis and treatment protocol introduced in 2009. STUDY DESIGN: This is a retrospective study. PATIENT SAMPLE: One hundred and ten patients with spine LCH who had been diagnosed and treated in our hospital from October 1997 to November 2015 were included in this study...
March 2, 2018: Spine Journal: Official Journal of the North American Spine Society
Shweta Bansal, Arun Garg, Richa Khurana
Langerhans cell histiocytosis (LCH) is a group of rare disorders histologically characterized by the proliferation of LC, involving multiple organs and systems. Typically, there is bone involvement and, less frequently, lesions may be found in the lungs, liver, lymph nodes, skin, and mucosae. Oral soft tissue lesions without bone involvement are rare. Antigenic markers that react with CD1a glycoprotein, cytoplasmatic protein S100 detected by immunoperoxidase staining, and/or presence of Birbeck granules on electron microscopic examination are required for a definitive diagnosis of LCH...
October 2017: Journal of Cutaneous and Aesthetic Surgery
Noah A Brown, Kojo S J Elenitoba-Johnson
PURPOSE OF REVIEW: Langerhans cell histiocytosis (LCH) is a neoplasm of dendritic cells with a wide clinical spectrum. Localized pulmonary LCH occurs in young adults with a history of smoking and can either resolve spontaneously or lead to progressive decline in pulmonary function. Young children can also present with localized disease - frequently bone or skin - or with multifocal or multisystem disease. Clinical outcomes in these patients also vary widely, ranging from spontaneous resolution to multiorgan failure and death...
February 20, 2018: Current Opinion in Pulmonary Medicine
Maria Papadopoulou, Paraskevi Panagopoulou, Anastasia Papadopoulou, Emmanuel Hatzipantelis, Ioannis Efstratiou, Assimina Galli-Tsinopoulou, Efimia Papadopoulou-Alataki
Langerhans cell histiocytosis (LCH) is a rare hematologic disorder that results from the clonal multiplication and accumulation of immature dendritic Langerhans cells. Its reported incidence rate varies, but is considered to be 2.6-8.9 per million children who are <15 years of age each year. It may affect any system or organ. The present study reported 4 pediatric LCH cases in order to highlight the heterogeneity of the initial presentation, and the pitfalls that may mislead clinicians and delay diagnosis...
March 2018: Molecular and Clinical Oncology
Maria Francesca Gicchino, Mario Diplomatico, Carmela Granato, Daniela Capalbo, Pierluigi Marzuillo, Alma Nunzia Olivieri, Emanuele Miraglia Del Giudice
BACKGROUND: Chronic recurrent multifocal osteomyelitis (CRMO), also known as chronic nonbacterial osteomyelitis, is a rare, noninfectious inflammatory disorder that causes multifocal bone lesions with swelling and pain. Lytic and sclerotic bone lesions could be found on X-ray. Short tau inversion recovery magnetic resonance imaging (STIR MRI) shows bone marrow oedema, bone expansion, lytic areas and periosteal reaction. CRMO is characterized by periodic exacerbations and remissions of unclear/unknown pathogenesis...
February 17, 2018: Italian Journal of Pediatrics
Matthew P Blakley, Janice P Dutcher, Peter H Wiernik
BACKGROUND: There is mounting evidence that Langerhans cell histiocytosis (LCH) and acute myeloid leukemia (AML) are hematopoietic neoplasms that arise from the same myeloid precursor cell. In addition, studies suggest a relationship between LCH and primary idiopathic myelofibrosis (MF). Furthermore familial LCH, AML, and MF have each been reported. METHODS: We examined more than 750 pedigrees of familial hematologic malignancies for evidence of familial LCH, AML, and/or MF and identified one family with all three neoplasms, which is presented here...
February 2, 2018: Leukemia Research
Angela Pia Cazzolla, Nunzio Francesco Testa, Gianfranco Favia, Maria Grazia Lacaita, Domenico Ciavarella, Khrystyna Zhurakivska, Giuseppe Troiano, Lorenzo Lo Muzio
Langerhans cell histiocytosis (LCH) is a childhood pathology with a peak of incidence ranging from 1 to 4 years of age, though diagnosis is often made in adult age. LCH is clinically classified into three types: eosinophilic granuloma, Hand-Schuller-Christian disease and Abt-Letterer-Siwe disease. We report a case of Hand-Schüller-Christian disease with diabetes insipidus, skull and maxillary involvement in a 16-year-old boy referred to our observation for gradual increase in mobility of the teeth and subsequent gradual loss of the second premolars and the first molars of the upper jaw...
February 8, 2018: Special Care in Dentistry
James Laird, Jennifer Ma, Karen Chau, Monica Chelius, Weiji Shi, Zhigang Zhang, Benjamin H Lok, Joachim Yahalom
PURPOSE: To characterize the efficacy and safety of radiation therapy in a contemporary Langerhans cell histiocytosis (LCH) cohort and to explore whether there are sites at higher risk for local recurrence. PATIENTS AND METHODS: Between 1995 and 2015 we identified 39 consecutive LCH patients who were treated primarily with radiation therapy. Patients were staged by single/multisystem involvement and established risk organ criteria. In 46 irradiated lesions, clinical and radiologic responses were evaluated at multiple time points after radiation therapy...
March 1, 2018: International Journal of Radiation Oncology, Biology, Physics
Dhanashree A Rajderkar, Mrunal L Shah, Jehan L Shah
Langerhans cell histiocytosis (LCH) is a disorder of the monocyte-macrophage system that can be unifocal or systemic. Here, we present a pediatric case who initially presented with osseous LCH but again presented 6 years later emergently with cerebellar symptoms, cerebellar mass and obstructive hydrocephalus. Patient underwent biopsy of the cerebellum which was path proven intracranial LCH.
October 2017: Indian Journal of Radiology & Imaging
Ryosuke Tamura, Sho Maeda, Hiroto Terashi
Langerhans cell histiocytosis (LCH) is a rare disease in which Langerhans cells, which are bone marrow-derived antigen-presenting cells, proliferate in single or multiple organs. We successfully treated a patient with unifocal LCH of the mandible with malocclusion due to a severe pathological fracture, using reconstruction with a vascularised free bone.
2018: Case Reports in Plastic Surgery & Hand Surgery
Milen Minkov
Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasia driven by activation mutations alongside the MAPK pathway. Its broad spectrum of clinical manifestations and diverse course and clinical outcome, make interpretation of trial data difficult. Use of different stratification systems further complicates comparison among trials. Areas covered: This review summarizes the published data derived from prospective clinical trials from Phase II onwards. PubMed was searched using combinations of the keywords 'Langerhans cell histiocytosis', 'histiocytosis X', 'pediatric', 'children', 'treatment', and 'therapy'...
January 22, 2018: Expert Opinion on Pharmacotherapy
Kate T Carroll, Bryson C Lochte, James Y Chen, Vivian S Snyder, Bob S Carter, Clark C Chen
Magnetic resonance imaging (MRI)-guided biopsy is an emerging diagnostic technique that holds great promise for otherwise difficult to access neuroanatomy. Here we describe MRI-guided biopsy of a suprasellar lesion located posterior and superior to the pituitary stalk. The approach was successfully implemented in a 38-year-old woman who had developed progressive visual deterioration. Intra-operative MRI revealed the need for trajectory adjustment due to an unintended, minor deviation in the burr hole entry point, demonstrating the benefit of an MRI-guided approach...
January 6, 2018: World Neurosurgery
Yufei Xu, Yulin Chen, Niu Li, Xuyun Hu, Guoqiang Li, Yu Ding, Juan Li, Yiping Shen, Xiumin Wang, Jian Wang
BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1. CASE PRESENTATION: Clinical data were collected from the subject and analyzed...
January 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Alexandra Kolenová, Raphaela Schwentner, Gunhild Jug, Ingrid Simonitsch-Klupp, Christoph Kornauth, Lukáš Plank, Júlia Horáková, Ivana Bodová, Tomáš Sýkora, Lucia Geczová, Wolfgang Holter, Milen Minkov, Caroline Hutter
Single-agent vemurafenib leads to a rapid and sustained clinical response in severe multisystem LCH but does not eradicate the disease.Longitudinal assessment of BRAF V600E during treatment shows that clinical remission can occur despite significant amounts of mutated BRAF.
February 14, 2017: Blood Advances
Edith Simona Ianoşi, Mihaela Mureşan, Simona Gurzu, Eugenia Corina Budin, Ioan Jung, Tivadar Bara, Gabriela Jimborean
Langerhans cell histiocytosis (LCH) is a rare disorder caused by monoclonal Langerhans cells proliferation in bone, skin, lung, lymph nodes, liver, spleen, nervous or hematopoietic system. Pulmonary LCH is a diagnostic trap that is displayed on computed tomography (CT) as an interstitial disorder with honeycomb aspect. In this paper, we present an unusual case of a 26-year-old female that was hospitalized with progressive worsening dyspnea and history of recurrent pneumonia. Lung biopsy showed fibrosis of the interalveolar septa, architectural distortion and large cells with foamy cytoplasm and convoluted nuclei that were marked by CD68, S-100 and the specific antibody CD1a that allowed establishing the diagnosis of pulmonary LCH...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Yi-Jhih Huang, Kuan-Hsun Lin, Tai-Kuang Chao, Tsai-Wang Huang, Hsu-Kai Huang
Langerhans cell histiocytosis (LCH) is a rare disease with uncertain etiology that is more prevalent in children. LCH typically invades skeletal systems, but in rare cases, it has been reported in the ribs or sternum. Optimal treatment choices for single-site, skeletal LCH are still undefined. We report a case of adult-onset LCH of the sternum. The range of surrounding soft tissue invasion was confirmed by three-dimensional fusion and reconstruction of chest computed tomography and magnetic resonance images...
September 2017: Journal of Thoracic Disease
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