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Rare disease

Siham Bibi, Yanyan Zhang, Caroline Hugonin, Mallorie Depond Mangean, Liang He, Ghaith Wedeh, Jean-Marie Launay, Sjoerd Van Rijn, Thomas Würdinger, Fawzia Louache, Michel Arock
Systemic mastocytosis are rare neoplasms characterized by accumulation of mast cells in at least one internal organ. The majority of systemic mastocytosis patients carry KIT D816V mutation, which activates constitutively the KIT receptor. Patient with advanced forms of systemic mastocytosis, such as aggressive systemic mastocytosis or mast cell leukemia, are poorly treated to date. Unfortunately, the lack of in vivo models reflecting KIT D816V+ advanced disease hampers pathophysiological studies and preclinical development of new therapies for such patients...
October 22, 2016: Oncotarget
Jing Chen, Craig A Mullen
BACKGROUND: Pediatric cancer is rare and its symptoms are often ambiguous. The aims of this study were to investigate the time needed to make a diagnosis, assess the frequency of misdiagnosis, and to determine whether these factors affected survival. METHODS: A review of records of 364 pediatric patients diagnosed with cancer at the University of Rochester Golisano Children's Hospital between 2004 and 2012 was conducted. Data were extracted on patient and health care system-related factors and clinical outcomes...
October 25, 2016: Journal of Pediatric Hematology/oncology
Benjamin Verret, Charles Honore, Sarah Dumont, Philippe Terrier, Julien Adam, Andrea Cavalcanti, Isabelle Sourrouille, Guillaume Klausner, Marion Ahlenc-Gelas, Nicolas Kiavue, Gabriella Domitrescu, Lamiae El Amarti, Olivier Mir, Axel Le Cesne
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignancy that occurs with unpredictable chemosensitivity and limited treatment options in the advanced setting. Prognosis is poor, and exploring new treatment options for such diseases is difficult because of its rarity. Clinical activity of trabectedin for advanced DSRCT was scarcely reported in the literature. Here, we report a series of six patients treated with trabectedin for an unresectable DSRCT. After receiving trabectedin, two patients had stable disease with a time to progression of 3 and 3...
October 25, 2016: Anti-cancer Drugs
Peter Garred, Ninette Genster, Katrine Pilely, Rafael Bayarri-Olmos, Anne Rosbjerg, Ying Jie Ma, Mikkel-Ole Skjoedt
Mannose-binding lectin (MBL), collectin-10, collectin-11, and the ficolins (ficolin-1, ficolin-2, and ficolin-3) are soluble pattern recognition molecules in the lectin complement pathway. These proteins act as mediators of host defense and participate in maintenance of tissue homeostasis. They bind to conserved pathogen-specific structures and altered self-antigens and form complexes with the pentraxins to modulate innate immune functions. All molecules exhibit distinct expression in different tissue compartments, but all are found to a varying degree in the circulation...
November 2016: Immunological Reviews
Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, Lilian Pl Lau, Gareth Baynam, Petra Kaufmann, Paul Lasko, Hugh Js Dawkins, Christopher P Austin, Kym M Boycott
The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly...
October 26, 2016: European Journal of Human Genetics: EJHG
Yan Shi, Yesenia Rojas, Wei Zhang, Elizabeth A Beierle, John J Doski, Melanie Goldfarb, Adam B Goldin, Kenneth W Gow, Monica Langer, Rebecka L Meyers, Jed G Nuchtern, Sanjeev A Vasudevan
OBJECTIVE: To examine patient characteristics and outcomes in children with undifferentiated embryonal sarcoma of the liver (UESL) using a multi-institutional database. SUMMARY BACKGROUND DATA: UESL is a rare disease (incidence is one per million). Therefore, the current literature is mostly limited to small case series. METHODS: The National Cancer Database was queried for primary UESL diagnosed between 1998 and 2012. RESULTS: A total of 103 patients (<18 years) were identified...
October 26, 2016: Pediatric Blood & Cancer
Ryan Kunjal, Rabie Adam-Eldien, Raafat Makary, Francois Jo-Hoy, Charles W Heilig
We report the case of a 22-year-old African American female who presented to another facility for routine follow-up in the 34th week of pregnancy with lower extremity swelling and nephrotic-range proteinuria. Although she was normotensive, it was initially thought that she had preeclampsia. She was monitored carefully and delivery was induced at 37 weeks of gestation. She was transferred to our hospital, where she was diagnosed with systemic lupus erythematosus (SLE) based on clinical and laboratory criteria...
September 2016: Case Reports in Nephrology and Dialysis
Cláudia Paiva, José Garcia, Cristina Silva, Alexandra Araújo, António Araújo, Marisa D Santos
Metastatic involvement of gastrointestinal tract from breast cancer is a rare event. We report the case of a 61-year-old woman presenting with bowel obstruction, related to metastasis of a primary breast cancer she had 12 years earlier (a triple-negative invasive ductal carcinoma treated with surgery and chemotherapy). Bowel obstruction was caused by a 20-centimeter tumor in the jejunum, involving also the transverse colon. The patient underwent en bloc resection of tumor with jejunum and transverse bowel segment and received adjuvant chemotherapy with carboplatin and paclitaxel...
2016: Case Reports in Oncological Medicine
Meltem Akcaboy, Melahat Melek Oguz, Esma Altınel Acoglu, Mehtap Acar, Pelin Zorlu, Ferda Ozbay Hosnut, Saliha Senel
INTRODUCTION: Rotavirus is a leading cause of acute gastroenteritis in children. Although the clinical complaints associated with rotavirus are generally gastrointestinal, including vomiting and diarrhea, data suggest that it can also cause symptoms that extend beyond the gastrointestinal tract. CASE PRESENTATIONS: We report three pediatric cases of rotavirus infection: one accompanied by encephalopathy and two with elevated hepatic transaminase activity. The patients were admitted to Dr...
August 2016: Iranian Red Crescent Medical Journal
Jeymohan Joseph, Paola Cinque, Deborah Colosi, Ameet Dravid, Luminita Ene, Howard Fox, Dana Gabuzda, Magnus Gisslen, Sarah Beth Joseph, Scott Letendre, Shibani S Mukerji, Avindra Nath, Ignacio Perez-Valero, Deborah Persaud, Richard W Price, Vasudev R Rao, Ned Sacktor, Ronald Swanstrom, Alan Winston, Valerie Wojna, Edwina Wright, Serena Spudich
CSF HIV escape is a recently recognised phenomenon that suggests that despite suppressive treatment, HIV RNA may be detected in the CNS compartment in some individuals. In rare cases this is associated with clinical neurological disease, while in most cases, neurological consequences are not apparent. Attempts at characterising the biological substrates of CSF escape and further investigating the neurological consequences need to be made to better understand the implications of this condition for the HIV cure agenda as well as for clinical outcomes...
October 5, 2016: Journal of Virus Eradication
Mark R Schleiss
Congenital cytomegalovirus (CMV) infection is the most common infectious cause of disability in newborn infants. CMV also causes serious disease in solid organ (SOT) and haematopoietic stem cell transplant (HSCT) recipients. In otherwise healthy children and adults, primary CMV infection rarely causes illness. However, even asymptomatic CMV infections may predispose an individual towards an increased risk of atherosclerosis, cancer and immune senescence over the life course, although such associations remain controversial...
October 5, 2016: Journal of Virus Eradication
M-Alain Babi, Bryan D Kraft, Sweta Sengupta, Haley Peterson, Ryan Orgel, Zachary Wegermann, Njira L Lugogo, Matthew W Luedke
BACKGROUND: We report a novel case of a rare disease: spontaneous Creutzfeldt-Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt-Jakob disease and HIV. CASE REPORT: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive "pseudo-dementia...
2016: SAGE Open Med Case Rep
Srinivas M Naren Satya, Kamala Retnam Mayilvaganan, V N Amogh, B V Balakrishna, Munnangi Satya Gautam, Ivvala Sai Prathyusha
BACKGROUND: Cysticercosis is a parasitic infection caused by the larval stages of the pork tapeworm, Taenia solium. The subcutaneous form of the disease is a relatively rare clinical entity. Despite its rarity, it is imperative for a radiologist to be aware of this subcutaneous form of the disease and its various radiological patterns while evaluating any subcutaneous swelling. In this paper, we aimed to describe a typical case of 'subcutaneous cysticercosis involving the left anterior chest wall' with high resolution ultrasound findings...
2016: Polish Journal of Radiology
Snezana Maljevic, Sabina Vejzovic, Matthias K Bernhard, Astrid Bertsche, Sebastian Weise, Miriam Döcker, Holger Lerche, Johannes R Lemke, Andreas Merkenschlager, Steffen Syrbe
Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals...
September 2016: Molecular Syndromology
Fabienne Hartmann-Fritsch, Daniela Marino, Ernst Reichmann
BACKGROUND: The treatment of severe full-thickness skin defects represents a significant and common clinical problem worldwide. A bio-engineered autologous skin substitute would significantly reduce the problems observed with today's gold standard. METHODS: Within 15 years of research, the Tissue Biology Research Unit of the University Children's Hospital Zurich has developed autologous tissue-engineered skin grafts based on collagen type I hydrogels. Those products are considered as advanced therapy medicinal products (ATMPs) and are routinely produced for clinical trials in a clean room facility following the guidelines for good manufacturing practice (GMP)...
September 2016: Transfusion Medicine and Hemotherapy
Ji In Moon, Ji Young Park, Tae Joo Jeon, Jung Min Choi, Won Chang Shin, June Min Sung, Young Moon Kim, Hyun Jung Kim
Non-umbilical cutaneous metastases from pancreatic adenocarcinomas are extremely rare. Only a few cases have been reported in the literature. An 83-year-old Korean woman, with no previous medical history, presented with a painful nodule on her scalp. Histologic examination of the nodule revealed a metastatic adenocarcinoma, and immunohistochemical staining was positive for cytokeratin (CK) 7 and CK 19. These findings were consistent with a metastatic carcinoma of pancreatic origin. An abdominal computed tomography scan identified a mass on the pancreatic head and multiple enlarged lymph nodes...
October 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Ji Hong You, Ki Won Cho, Yoon Jin Cha, Hyo Jin Park
Syphilis is a rare disease in the rectum. It is difficult to diagnose because the characteristics of the rectal syphilis rectal lesion are highly varied. The endoscopic findings of rectal syphilis are proctitis, ulcers, and masses. If rectal syphilis is suspected to be the cause for rectal lesions, it is important for physicians to consider the sexual history and sexual orientation of the patient. We report a case of incidental rectal syphilis in a 41-year-old man diagnosed during a regular medical check-up...
October 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Min Sik Hwang, Young Don Kim, Sa Young Shin, Jae Hyuck Jun, Jong Sam Hong, Dae Woon Eom, Gab Jin Cheon
Endometriosis is a benign gynecologic disease, characterized by the presence and growth of functional endometrial-like tissue outside uterus. This ectopic endometrial tissue is most commonly found in the peritoneum, ovaries and uterosacral ligaments, but extremely rarely there is involvement of the appendix or cecum. Here we report a case of cecal endometriosis presenting as a subepithelial tumor diagnosed by surgical excision.
October 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Ni Chen, Tianpin Yu, Jing Gong, Ling Nie, Xueqin Chen, Mengni Zhang, Miao Xu, Junya Tan, Zhengzheng Su, Jinjing Zhong, Qiao Zhou
Mutations of isocitrate dehydrogenase 1 (IDH1) or 2 (IDH2) genes have been identified as early molecular events in the development of astrocytomas and oligodendrogliomas. Data regarding the status and prevalence of IDH1/2 mutations in Chinese patients are limited. Herein we report our data from West China Hospital, a major Chinese medical centre. IDH1(R132H) mutation was analysed by immunohistochemistry with the mutation-specific IDH1(R132H) antibody in 1011 patients, including 922 central nervous system (CNS) tumours and 89 non-neoplastic CNS lesions, and PCR-based direct sequencing of IDH1/2 gene mutation in 570 of these samples...
October 22, 2016: Pathology
Mehmet Rafet Yigitbasi, Gulcan Guntas, Tuba Atak, Cigdem Sonmez, Haydar Yalman, Hafize Uzun
INTRODUCTION: Idiopathic granulomatous mastitis (IGM) is a rare benign inflammatory breast disease that can clinically and radiographically mimic breast carcinoma and bacterial mastitis. The aim of this study is to investigate the importance of levels of the inflammation markers, interleukin-33 (IL-33), soluble ST2 receptor of IL-33 (sST2), procalcitonin (PCT), and CRP on differential diagnosis of IGM and breast cancer (BC). METHODS: 25 patients with IGM and 32 patients with primary BC who applied to General Surgery Clinic, and 30 healthy volunteer women with similar demographic condition were enrolled in the study...
October 26, 2016: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
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