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https://www.readbyqxmd.com/read/29236350/iccs-escca-consensus-guidelines-to-detect-gpi-deficient-cells-in-paroxysmal-nocturnal-hemoglobinuria-pnh-and-related-disorders-part-3-data-analysis-reporting-and-case-studies
#1
Andrea Illingworth, Iuri Marinov, D Robert Sutherland, Orianne Wagner Ballon, Luigi DelVecchio
Over the past several years, a diverse group of physicians and other laboratory scientists have developed various recommendations and guidelines regarding best practices for PNH testing. This manuscript is based on these previous recommendations as well as various other relevant publications of experts in the area of PNH testing. The goal is to provide flow cytometry laboratories with an updated consensus approach to analysis and reporting of PNH results and to address the most common analytical challenges for accurate reporting of this rare disease...
December 13, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29234972/staging-treatment-and-future-approaches-of-gallbladder-carcinoma
#2
REVIEW
Sanjeev Kumar Shukla, Govind Singh, K S Shahi, Bhuvan, Prabhat Pant
BACKGROUND: Gallbladder cancer is the most common malignant cancer of the bile ducts and third most common gastrointestinal malignant in the world for public health. Its relatively low incidence and confused symptoms result in advanced disease at the time of presentation, contributing to poor prognosis and reduced survival associated with this disease. The main function of the gallbladder is to store excreted bile acids from the liver in preparation for a meal. Its main risk factor is prolonged exposure to biliary calculations, although bacterial infections and other inflammatory conditions are associated...
December 12, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/29233784/altered-natural-killer-cell-cytokine-profile-in-type-2-autoimmune-hepatitis
#3
Dalila Mele, Grazia Bossi, Giuseppe Maggiore, Barbara Oliviero, Stefania Mantovani, Beatrice Bonelli, Mario U Mondelli, Stefania Varchetta
Type 2 autoimmune hepatitis (AIH-2) is a rare disease presenting in early childhood. The immunopathogenetic mechanisms are poorly characterized, although a defect of regulatory T cells (Treg) has been shown. There is virtually no information on innate immune responses and natural killer (NK) cells in particular. We have performed an extended immunophenotypic and functional analysis of NK cells in children with AIH-2. We show that NK cell frequency is reduced in this setting and that the balance between NK activating and inhibitory receptors is skewed toward activation...
December 9, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29230132/primary-undifferentiated-pleomorphic-sarcoma-of-the-penis
#4
Hyung Sun Yoo, Suma Satti, Marc Matrana
Background: Primary penile sarcoma is a rare disease that affects men of all ages. Different subtypes of primary penile sarcoma exist, with the rarest being pleomorphic sarcoma. Delays in presentation and diagnosis of primary penile sarcoma have been reported because of its benign-appearing presenting features and rarity. If penile sarcoma is left untreated, the clinical consequence is metastasis that is fatal in most cases. Case Report: We report an extremely rare case of undifferentiated pleomorphic sarcoma of the penis in a 59-year-old patient who initially presented with a slow-growing penile nodule...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29226095/atypical-hemolytic-uremic-syndrome-due-to-complement-factor-i-mutation
#5
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed
Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor I (CFI) mutation...
November 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/29225983/breast-implant-associated-anaplastic-large-cell-lymphoma-a-case-report-and-review-of-the-literature
#6
Daniel E Ezekwudo, Tolulope Ifabiyi, Bolanle Gbadamosi, Kristle Haberichter, Zhou Yu, Mitual Amin, Kenneth Shaheen, Michael Stender, Ishmael Jaiyesimi
Breast implant-associated anaplastic large T-cell lymphoma has recently been recognized as an entity, with few reports describing the two common subtypes: in situ (indolent) and infiltrative. Recently, the infiltrative subtypes have been shown to be more aggressive requiring adjuvant chemotherapy. We report a rare case of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) in a 65-year-old Caucasian female following silicone breast implantation and multiple capsulectomies. We discuss the rare presentation of this disease, histopathologic features of the indolent and infiltrative subtypes of ALCL, and their clinical significance...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29225877/hirayama-disease-diagnostic-essentials-in-neuroimaging
#7
Stylianos Kapetanakis, Danae Chourmouzi, Aikaterini Terzoudi, Nikiforos Georgiou, Eirini Giovannopoulou
A 22-year-old male presented with progressive muscular weakness of the upper extremities. MRI of the cervical spine established the final diagnosis of Hirayama disease (HD). HD is a rare disease with benign progress. Neurologists and radiologists should be aware of the specific neuroimaging signs of this rare clinical entity.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29225799/kidney-involvement-in-the-schnitzler-syndrome-a-rare-disease
#8
REVIEW
Carlo Basile, Luigi Rossi, Francesco Casucci, Annalisa Teutonico, Pasquale Libutti, Piero Lisi, Carlo Lomonte, Raffaele Manna
The Schnitzler syndrome (SS) is a rare and underdiagnosed entity that associates a chronic urticarial rash, monoclonal IgM (or sometimes IgG) gammopathy and signs and symptoms of systemic inflammation. During the past 45 years, the SS has evolved from an elusive little-known disorder to the paradigm of a late-onset acquired auto-inflammatory syndrome. Though there is no definite proof of its precise pathogenesis, it should be considered as an acquired disease involving abnormal stimulation of the innate immune system, which can be reversed by the interleukin-1 receptor antagonist anakinra...
December 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29225468/therapy-of-an-incomplete-spinal-cord-injury-by-intrathecal-injection-of-epo-and-subcutaneous-injection-of-epo-vitamin-c-and-g-csf
#9
Augustinus Bader, Martin Reinhardt, Achim Beuthe, Klaus Röhl, Shibashish Giri
Spinal cord injury is a rare disease with an incidence about 40 cases per million population in the USA. The most common reasons are traffic accidents, falls, violence and sports. A 53-year-old male patient presented with an incomplete tetraparesis as a result of a spinal cord injury after the accident. It was not possible to treat him with steroids because he was out of the therapeutic time period of 8 hours when he presented to the hospital. The main problem of spinal cord injuries is the secondary injury caused by inflammation and swelling of the spinal cord...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29221343/adult-onset-langerhans-cell-histiocytosis-of-the-sternum
#10
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
https://www.readbyqxmd.com/read/29218495/systemic-epstein-barr-virus-positive-t-cell-lymphoproliferative-disorders-of-childhood-with-fulminant-leukocytosis-and-tumor-lysis-a-case-report-with-autopsy-findings
#11
Sachie Wada, Takayuki Suzuki, Koichi Kitazume, Akira Fujita, Seiichiro Shimizu
Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorders (T-LPD) of childhood is an extremely rare disease characterized by an aggressive clinical course and very poor prognosis. We report an adolescent male with systemic EBV-positive T-LPD of childhood after primary EBV infection, resulting in a fatal clinical course within 9 days, along with autopsy findings. A 19-year-old male without an immunocompromised status presented with an acute onset of high fever, and was hospitalized for persistent fever, vomiting and diarrhea on the 5th day from onset...
December 7, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29217783/somatic-stat3-mutations-in-the-felty-syndrome-an-implication-for-a-common-pathogenesis-with-large-granular-lymphocyte-leukemia
#12
Paula Savola, Oscar Brück, Thomas Olson, Tiina Kelkka, Markku J Kauppi, Panu E Kovanen, Soili Kytölä, Tuulikki Sokka-Isler, Thomas P Loughran, Marjatta Leirisalo-Repo, Satu Mustjoki
Felty syndrome is a rare disease defined by neutropenia, splenomegaly, and rheumatoid arthritis. Sometimes the differential diagnosis between Felty syndrome and large granular lymphocyte leukemia is problematic. Recently, somatic STAT3 and STAT5B mutations were discovered in 30-40% of patients with large granular lymphocyte leukemia. We now aimed to study whether these mutations can also be detected in Felty syndrome, which would imply for a common pathogenic mechanism between these two disease entities. We collected samples and clinical information from 14 Felty syndrome patients who were monitored at the rheumatology outpatient clinic for Felty syndrome...
December 7, 2017: Haematologica
https://www.readbyqxmd.com/read/29217415/arima-syndrome-caused-by-cep290-specific-variant-and-accompanied-with-pathological-cilium-clinical-comparison-with-joubert-syndrome-and-its-related-diseases
#13
Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-Ichi Goto, Sen Takeda, Masataka Arima
OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing...
December 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/29216875/pulmonary-inflammatory-myofibroblastic-tumor-indistinguishable-from-tuberculosis-a-case-report-in-a-five-year-old-child-with-hemoptysis
#14
Tao Zuo, Jun Fu, Zhengyi Ni, Baojun Chen
BACKGROUND: Pulmonary inflammatory myofibroblastic tumor (PIMT) is a rare disease in China and its incidence is much lower than that of tuberculosis. PIMT accounts for only 0.04-1.2% of all lung tumors. PIMT can occurs in any age and nearly every part of the body. The clinical symptoms and radiological features of PIMT are nonspecific. Diagnosis is only made on the basis of histopathologic or immunohistochemical evaluation of the postoperation resected tissue. The therapeutic approach to PIMT should rely mainly on complete surgical resection...
December 8, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29215813/kidney-transplantation-in-patients-with-atypical-hemolytic-uremic-syndrome-due-to-complement-factor-h-deficiency-impact-of-liver-transplantation
#15
Sejin Kim, Eujin Park, Sang Il Min, Nam Joon Yi, Jongwon Ha, Il Soo Ha, Hae Il Cheong, Hee Gyung Kang
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that is often associated with genetic defects. Mutations of complement factor H (CFH) are the most common genetic defects that cause aHUS and often result in end-stage renal disease. Since CFH is mainly produced in the liver, liver transplantation (LT) has been performed in patients with defective CFH. METHODS: The clinical courses of four kidney allograft recipients who lost their native kidney functions due to aHUS associated with a CFH mutation were reviewed...
January 1, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29215446/nasal-septal-cavernous-hemangioma
#16
Ahmet Baki
Hemangiomas are benign tumors originating from the skin, mucosa, muscle, gland, and vascular tissue in the bone. Although it is common in the head and neck region, it is rarely seen in the nasal cavity and paranasal sinuses. Histologically capillary, cavernous, and mixed types are present, the most common is cavernous-type hemangioma. Cavernous hemangiomas in the nasal cavity, generally originated from the lateral nasal wall, cause symptoms as nasal obstruction and epistaxis. In the author's patient, cavernous hemangioma was originated from the nasal septum, where rarely seen...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29214746/case-of-idiopathic-and-complete-appendiceal-intussusception
#17
Ryoichi Tsukamoto, Kazuhiro Sakamoto, Kumpei Honjo, Koichiro Niwa, Kiichi Sugimoto, Shun Ishiyama, Hirohiko Kamiyama, Makoto Takahashi, Atsushi Okuzawa
Appendiceal intussusception is a rare disease in which the appendix invaginates into the cecum. It is often caused by organic diseases. The present case involved an appendiceal intussusception without an organic disease, and laparoscopic resection of part of the cecum was performed. Appendiceal intussusception has various causes, including malignant diseases. Therefore, diagnosis and selection of operative method are complex and could potentially lead to an excessively invasive option. By performing SILS with a multiuse single-site port, we were able to provide an appropriate, non-invasive treatment that had a good esthetic outcome...
December 7, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/29214596/preparing-for-the-future-of-rare-diseases
#18
Stephen C Groft, Manuel Posada de la Paz
Members of the rare disease community have devoted significant financial and personnel resources to address the numerous issues surrounding rare diseases. The past has been devoted to developing an emphasis on rare diseases including an emphasis on research studies or locating information on rare diseases and the requirements and limitations of conducting clinical trials with small patient populations. The expanded role of patient advocacy organizations and patient engagement in all aspects of clinical research continues to gain acceptance within the research community...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214595/health-systems-sustainability-and-rare-diseases
#19
Rita Maria Ferrelli, Marta De Santis, Amalia Egle Gentile, Domenica Taruscio
The paper is addressing aspects of health system sustainability for rare diseases in relation to the current economic crisis and equity concerns. It takes into account the results of the narrative review carried out in the framework of the Joint Action for Rare Diseases (Joint RD-Action) "Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases", that identified networks as key factors for health systems sustainability for rare diseases. The legal framework of European Reference Networks and their added value is also presented...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214594/bridging-the-gap-between-health-and-social-care-for-rare-diseases-key-issues-and-innovative-solutions
#20
Raquel Castro, Juliette Senecat, Myriam de Chalendar, Ildikó Vajda, Dorica Dan, Béata Boncz
Bridging the gaps between health and social care for rare diseases is not only necessary but crucial to increase the life expectancy, quality of life and autonomy of people living with a rare disease, supporting them in the full realisation of their fundamental human rights.The complexity of rare diseases, their strong relation to disability and the current unmet social and daily life needs of people living with a rare disease must not be underestimated and require urgent attention from all stakeholders involved in care provision, from healthcare to social and community services...
2017: Advances in Experimental Medicine and Biology
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