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rare diseases

Fawaz Abo-Alhassan, Fatemah Faras, Yousef M Malek, Munish Joneja, Piyaray M Dhar
BACKGROUND: Appendicular schistosomiasis is an unusual etiology of acute appendicitis, which has been reported in countries endemic in schistosomiasis, such as sub-saharan Africa and South America. Nowadays, due to globalization, this disease has been diagnosed in non-endemic countries. Kuwait is a country possessing a larger percentage of foreigners than national citizens. Therefore, several cases of schistosomal appendicitis were found. METHOD: The clinicopathological records of all patients that underwent appendectomy during January 2007 and December 2011 were recorded from the archives of Al-Adan Hospital in Kuwait...
October 17, 2016: International Journal of Surgery Case Reports
Vikram Shetty, Sriram S Ganapathy
Retinoblastoma (RB) is an aggressive intraocular tumor arising from cells of the retina. Infrequently, distant metastasis occurs in advanced stages of the disease. This case report describes the metastasis of the tumor to the mandible, an extremely rare phenomenon. This condition was observed for a recurrent tumor in a patient who initially underwent chemotherapy, making this case report unique and providing new insights into the behavior of this tumor. An overview of the management of a metastatic RB also is discussed...
September 28, 2016: Journal of Oral and Maxillofacial Surgery
Michaël Duruisseaux, Anne McLeer-Florin, Martine Antoine, Sanaz Alavizadeh, Virginie Poulot, Roger Lacave, Nathalie Rabbe, Jacques Cadranel, Marie Wislez
Invasive mucinous lung adenocarcinoma (IMA) is a rare subtype of lung adenocarcinoma with no effective treatment option in advanced disease. KRAS mutations occur in 28-87% of the cases. NRG1 fusions were recently discovered in KRAS-negative IMA cases and otherwise negative for known driver oncogenes and could represent an attractive therapeutic target. Published data suggest that NRG1 fusions occur essentially in nonsmoking Asian women. From an IMA cohort of 25 French patients of known ethnicity, driver oncogenes EGFR, KRAS, BRAF, ERBB2 mutations, and ALK and ROS1 rearrangements presence were analyzed...
October 21, 2016: Cancer Medicine
Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
Yung-Kuan Tsou, Chia-Yuan Liu, Kuang-I Fu, Cheng-Hui Lin, Mu-Shien Lee, Ming-Yao Su, Ken Ohata, Cheng-Tang Chiu
BACKGROUND: Esophageal endoscopic submucosal dissection (ESD) has rarely been reported for the treatment of cirrhotic patients. AIM: To report the results of ESD treatment of superficial esophageal neoplasms (SENs) for cirrhotic patients. METHODS: Forty patients with 50 consecutive SENs undergoing 46 sessions of ESD were retrospectively reviewed. The cirrhotic group included eight patients (11 SENs) with liver cirrhosis consisting of six patients classified as Child-Pugh class A liver cirrhosis and two patients classified as class B liver cirrhosis...
October 21, 2016: Digestive Diseases and Sciences
James Anaissie, Wayne J G Hellstrom, Faysal A Yafi
The introduction of collagenase Clostridium histolyticum (CCH) as a treatment option for Peyronie's disease (PD), defined as the abnormal formation of collagen on the tunica albuginea of the penis, has provided patients with a promising new conservative therapy. Studies have shown that CCH improves curvature by an average of 17°, and although patient and sexual partner satisfaction is high, the improvement has arguable clinical implications. Similarly, the efficacy and cost of CCH contrasts strongly with more invasive surgical management, and is further limited by rare, but serious, complications and several contraindications...
October 21, 2016: Drugs
C T Lau, A Kan, N Shek, P Tam, K K Y Wong
BACKGROUND: Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis. METHODS: An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups...
October 21, 2016: Pediatric Surgery International
W A Wan Zaidi, W F Wan Jamaludin, N R Tumian, S F Abdul Wahid
Pulmonary toxicity is a rare complication of Rituximab therapy. Although Rituximab is relatively safe and can be administered in an outpatient setting, Rituximab-associated lung disease has been reported and may cause mortality despite early detection. Typically the pulmonary toxicity occurs at around the fourth cycle of Rituximab. High index of suspicion is crucial and other concurrent pathology such as infective causes should be excluded. Radiological imaging and histological confirmation should be obtained and early treatment with corticosteroid should be initiated...
August 2016: Medical Journal of Malaysia
S Narasimman, S N Jasjit, S R Navarasi, N Premnath
This is a case of a posterior mediastinal mass in an asymptomatic gentleman, which was resected successfully and he has been disease free for more than a year of follow up. The histopathology findings happen to be a rare occurrence.
August 2016: Medical Journal of Malaysia
Manuel Guerrero-Hernandez, Carlos A Hinojosa, Javier E Anaya-Ayala, Erika Elenes, Aldo Torre
Portal vein (PV) thrombosis (PVT) in the absence of liver disease or thrombophilia is rare. We report a 57-year-old male with a history of stage 3 chronic kidney disease who presented at the emergency department 18 months after abdominal surgery with progressive abdominal pain and distention. Computed tomography revealed PVT with multiple collaterals and moderate ascites. He had undergone partial gastrectomy and gastrojejunal anastomosis at an outside facility for gastrointestinal stromal tumors that caused an iatrogenic stenotic lesion in the PV...
October 20, 2016: Vascular and Endovascular Surgery
Daniel Nichol, Mark Robertson-Tessi, Peter Jeavons, Alexander R A Anderson
Non-genetic variation in phenotypes, or bet-hedging, has been observed as a driver of drug resistance in both bacterial infections and cancers. Here, we study how bet-hedging emerges in the genotype-phenotype mapping through a simple interaction model: a molecular switch. We use simple Chemical Reaction Networks to implement stochastic switches that map gene products to phenotypes and investigate the impact of structurally distinct mappings on the evolution of phenotypic heterogeneity. Bet-hedging naturally emerges within this model and is robust to evolutionary loss through mutations to both the expression of individual genes and to the network itself...
October 21, 2016: Genetics
Daniel Edwards, Robert Gitman, Noah May, Melanie Amster
A 71 year-old female presented with a large, protuberant abdominal mass and was found to have both a left renal mass and a biopsy-proven neuroendocrine tumor of the ileocecal valve. Ultimately, right hemicolectomy revealed a well-differentiated and low-grade neuroendocrine tumor of the ileocecal valve, while left radical nephrectomy revealed a 23x22x15cm chromophobe renal cell carcinoma (RCC-CT) weighing 3564g. RCC-CT represents a small portion of diagnosed RCC, and generally portends a more favorable prognosis than other variants...
October 18, 2016: Urology
Jan Hattendorf, Kevin Louis Bardosh, Jakob Zinsstag
Surveillance of zoonotic disease requires special attention because the animal and human health sectors are involved. A proliferation of scholarly literature and technical guidelines exist for early detection of exotic and re-emerging diseases and to demonstrate freedom from disease as part of international trade agreements. In contrast, literature focussing on surveillance of endemic zoonotic diseases is relatively rare. In this article, we describe and discuss the main aspects to consider when planning a surveillance system for endemic zoonotic diseases in a resource-limited country...
October 18, 2016: Acta Tropica
Jia Cheng, XiaoFeng Guo, Tian Zhang, Li Zhong, GuoJun Bu, XiaoFen Chen
Triggering receptor expressed on myeloid cells (TREMs) receptors constitute a family modulators in human innate immunity system that encode by a gene cluster. Rare variants in TREM2 were reported to be associated with significant Alzheimer's disease (AD) risk. However, inconsistent results were also reported in some studies of Non-European descents. Recently, the other TREM family members are also considered to involve in AD and cerebrospinal fluid (CSF) soluble form of TREM2 (sTREM2) levels has also been associated with respond to progression of disease...
October 18, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Francisca Sanchez-Jiménez, Almudena Pino-Ángeles, Rocio Rodríguez-López, María Morales, José Luis Urdiales
Human histidine decarboxylase (HDC) and dopa decarboxilase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively. The enzymes share many structural and functional analogies, while their product metabolisms also follow similar patterns that are confluent in some metabolic steps. They are involved in common physiological functions, such as neurotransmission, gastrointestinal track function, immunity, cell growth and cell differentiation...
October 18, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
Yuri N Clement, Varune Mahase, Annelise Jagroop, Kelly Kissoon, Aarti Maharaj, Prashant Mathura, Chrys Mc Quan, Divya Ramadhin, Cherrista Mohammed
BACKGROUND: Cancer is a major disease worldwide, and many patients use complementary and alternative treatments. The purpose of this study was to identify the herbal remedies and functional foods used as complementary medicine by prostate, breast and colorectal cancer patients at speciality care facilities in Trinidad. We also sought to determine how patients rated the efficacy of these modalities compared with conventional treatment. METHODS: A descriptive, cross-sectional survey was conducted using an interviewer-administered pilot-tested de novo questionnaire during the period June to August 2012 at two speciality treatment centres on the island...
October 21, 2016: BMC Complementary and Alternative Medicine
Hiroki Namikawa, Yasuhiko Takemoto, Ayako Makuuchi, Masanori Kobayashi, Shigeki Kinuhata, Mina Morimura, Takashi Ikebe, Hiromu Tanaka, Taichi Shuto
BACKGROUND: Most cases of disseminated carcinomatosis of the bone marrow (DCBM) arise from gastric cancer. DCBM from pancreatic cancer is very rare. We herein present a case of DCBM from pancreatic cancer. CASE PRESENTATION: A 57-year-old man was referred to our hospital for severe lumbago. Laboratory data indicated that he suffered from disseminated intravascular coagulation (DIC). Non-contrast abdominal computed tomography (CT) revealed multiple bone masses but no other abnormal findings...
October 13, 2016: BMC Cancer
Olivier Taboureau, Karine Audouze
During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information and their disease relationships from the reported TDDB database...
October 21, 2016: ALTEX
Oznur Bayraktar, Ozlem Oral, Nur Mehpare Kocaturk, Yunus Akkoc, Karin Eberhart, Ali Kosar, Devrim Gozuacik
The ubiquitin-proteasome system (UPS) degrades soluble proteins and small aggregates, whereas macroautophagy (autophagy herein) eliminates larger protein aggregates, tangles and even whole organelles in a lysosome-dependent manner. VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia). Here, we studied the role IBMPFD-related mutants of VCP/p97 in autophagy. In contrast with the wild-type VCP/p97 protein or R155C or R191Q mutants, the P137L mutant was aggregate-prone...
2016: PloS One
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