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rare diseases

Maha Al-Faqawi, Yousef Abuowda, Alaa Eldeen Elmassry, Bettina Böttcher
BACKGROUND: The frequency and severity of chronic obstructive pulmonary disease (COPD) exacerbations are the most important determinants of prognosis in COPD. The aim of this study was to assess the management of patients presenting with COPD exacerbations at the Nasser Medical Complex in the Gaza Strip and to compare the management with the Global Initiative for Chronic Obstructive Lung Disease guidelines (GOLD 2015). METHODS: We reviewed the medical records of all patients admitted to Nasser Medical Complex and diagnosed with COPD exacerbation between Jan 1, 2014, and Dec 31, 2016...
February 21, 2018: Lancet
Roukaya Al Hammoud, James R Murphy, Norma Pérez
Although transmission of rubella virus within the United States is rare, the risk for imported cases persists. We describe a rubella case in a newborn, conceived in Saudi Arabia, in Texas during 2017, highlighting the importance of active surveillance and early diagnosis of this disease.
April 2018: Emerging Infectious Diseases
Nguyen To Anh, Le Nguyen Truc Nhu, Hoang Minh Tu Van, Nguyen Thi Thu Hong, Tran Tan Thanh, Vu Thi Ty Hang, Nguyen Thi Han Ny, Lam Anh Nguyet, Tran Thi Lan Phuong, Le Nguyen Thanh Nhan, Nguyen Thanh Hung, Truong Huu Khanh, Ha Manh Tuan, Ho Lu Viet, Nguyen Tran Nam, Do Chau Viet, Phan Tu Qui, Bridget Wills, Sarawathy Sabanathan, Nguyen Van Vinh Chau, Louise Thwaites, H Rogier van Doorn, Guy Thwaites, Maia A Rabaa, Le Van Tan
Hand, foot and mouth disease (HFMD) is a major public health issue in Asia and has global pandemic potential. Coxsackievirus A6 (CV-A6) was detected in 514/2,230 (23%) of HFMD patients admitted to 3 major hospitals in southern Vietnam during 2011-2015. Of these patients, 93 (18%) had severe HFMD. Phylogenetic analysis of 98 genome sequences revealed they belonged to cluster A and had been circulating in Vietnam for 2 years before emergence. CV-A6 movement among localities within Vietnam occurred frequently, whereas viral movement across international borders appeared rare...
April 2018: Emerging Infectious Diseases
Adriely Goes, Gregor Fuhrmann
Biogenic and biomimetic therapeutics are a relatively new class of systems that are of physiological origin and/or take advantage of natural pathways, or aim at mimicking these to improve selective interaction with target tissue. The number of biogenic and bioengineered avenues for drug therapy and diagnostics has multiplied over the past years for many applications, indicating the high expectations associated with this biological route. Nevertheless, the use of "bio"-related approaches for treating or diagnosing infectious diseases is still rare...
March 19, 2018: ACS Infectious Diseases
Pablo Cortegoso Valdivia, Mauro Bruno, Silvia Gaia, Giorgio M Saracco, Claudio DE Angelis
We report a rare case of gastric fistulization in a patient with main-duct (MD) intraductal papillary mucinous neoplasm (IPMN). Fistulization to adjacent organs is a rare complication of this disease, mainly affecting the duodenum; the fact that the stomach was the only organ involved makes this case even more peculiar. The diagnosis of the fistula was made after examination with Endoscopic Ultrasound (EUS), since a previous computed tomography (CT) scan wasn't able to detect it.
March 16, 2018: Minerva Gastroenterologica e Dietologica
Ülkü Gül Şiraz, Deniz Okdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendırcı, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Balázs Dezsényi, László Sárközi, László Kaiser, Klára Tárkányi, Radka Nikolova, Zorán Belics
Enterobiasis is an easily recognizable and treatable disease with higher incidence among children. Based on these facts, its clinical importance is usually underestimated. This infection also occurs during adulthood and without treatment, it can cause severe complications in some rare cases. Unnoticed subclinical infection in women can lead to infertility and even to life-threatening conditions. It is also emphasized in this paper that the treatment of identified enterobiasis during pregnancy needs caution...
March 19, 2018: Acta Microbiologica et Immunologica Hungarica
F Frati, C Incorvaia, C Cavaliere, G Di Cara, F Marcucci, S Esposito, S Masieri
The skin prick test (SPT) is the most common test for the diagnosis of allergy. SPT is performed by pricking the skin, usually in the volar surface of the forearm, with a lancet through a drop of an allergen extract and is usually the first choice test in the diagnostic workup for allergic diseases because of its reliability, safety, convenience and low cost. SPT is minimally invasive and has the advantage of testing multiple allergens in 15 to 20 min. In children, SPT is far less disturbing than venipuncture and is used to obtain a sample of serum to measure specific IgE through in vitro tests...
January 2018: Journal of Biological Regulators and Homeostatic Agents
Aleksandar Stepanovic, Marina Nikitovic
Glioblastoma is the most frequent primary malignant brain tumor in adults. With the number of symptoms and signs, it belongs to diseases where a lot of treatment modalities are often applied. A standard treatment for patients with glioblastoma includes surgical resection followed by radiotherapy with concomitant and adjuvant temozolomide. Each type of treatment has its own toxicity. Temozolomide is an oral alkylating cytotoxic drug and like any other alkylating agent can induce side effects. Although temozolomide is generally a well tolerated drug, with rare severe toxic effects, sometimes certain toxicities can overcome the life risk of the underlying malignancy...
January 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
Emmanouil Kalampokas, Vijay Sharma, Tanja Gagliardi, Fiona Payne, Mahalakshmi Gurumurthy
Background: Primary small cell ovarian cancer of pulmonary type (SCCOPT) is a rare aggressive ovarian tumour with an incidence of <1%, usually occurring in perimenopausal or postmenopausal women and known to have a poor prognosis. Current treatment is platinum based but has not resulted in long term survival. Case presentation: We report a case of a 77-year old Caucasian woman who presented initially with a one-week history of abdominal discomfort with raised inflammatory markers and Ca125 of 50 μ/ml...
May 2018: Gynecologic Oncology Reports
Anne Schneider, François Becmeur
Congenital diaphragmatic hernia (CDH) is a rare congenital disease requiring neonatal surgical treatment. The traditional surgical management of CDH consists of diaphragmatic repair by laparotomy. Thoracoscopic repair techniques have been well described for CDH with late presentation. Nevertheless, its feasibility for CDH treatment in neonates emerged only the past few years because the use of thoracoscopy with carbon dioxide insufflation remains controversial in these patients more vulnerable to hypothermia and acidosis...
2018: Journal of Visualized Surgery
Kenji Yamada, Hideaki Shiraishi, Eishin Oki, Mika Ishige, Toshiyuki Fukao, Yusuke Hamada, Norio Sakai, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Takashi Miyakoshi, Kota Ono, Koji Oba, Toshiyuki Isoe, Hiroshi Hayashi, Seiji Yamaguchi, Norihiro Sato
Introduction: Fatty acid oxidation disorders (FAODs) are rare diseases caused by defects in mitochondrial fatty acid oxidation (FAO) enzymes. While the efficacy of bezafibrate, a peroxisome proliferator-activated receptor agonist, on the in vitro FAO capacity has been reported, the in vivo efficacy remains controversial. Therefore, we conducted a clinical trial of bezafibrate in Japanese patients with FAODs. Materials and methods: This trial was an open-label, non-randomized, and multicenter study of bezafibrate treatment in 6 patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and 2 patients with carnitine palmitoyltransferase-II (CPT-2) deficiency (median age, 8...
June 2018: Molecular Genetics and Metabolism Reports
Ayaka Ishihara, Etaro Hashimoto, Haruhiko Ishioka, Hiroyuki Kobayashi, Harumi Gomi
Meningitis caused by the zoonotic pathogen Campylobacter fetus in immunocompetent adults is rare. We report a 48-year-old Japanese woman with no underlying disease who was found to have meningitis caused by C. fetus . Both C. fetus subsp. fetus and C. fetus subsp. venerealis were isolated from the cerebrospinal fluid culture. The mode of infection in our patient was considered to be associated with the consumption of raw beef and raw cattle liver on a regular basis. Public awareness and education to avoid the consumption of raw or undercooked meat might help prevent C...
2018: IDCases
Francisco Galeano-Valle, Pablo Demelo-Rodriguez, Luís Álvarez-Sala-Walther, Blanca Pinilla-Llorente, Miguel Jesús Echenagusia-Boyra, Hugo Rodriguez-Abella, Jorge Del-Toro-Cervera
Behçet's Disease (BD) is a rare multi-systemic inflammatory disorder classified as a systemic vasculitis of unknown aetiology. Vascular involvement occurs in approximately 5-51.6% cases, affecting venous and arterial vessels. Cardiac involvement is rare in BD (6%). There have been published approximately 93 cases of BD associated with intracardiac thrombosis, with different treatments and courses. We present a case of a 35-year-old spanish male that, after a percutaneous pharmacomechanical thrombectomy with venous stent placement, developed high fever and extensive venous thrombosis despite anticoagulation including intracardiac thrombosis (ICT) in the right ventricle and pulmonary embolism that leaded to the diagnosis of BD...
February 2018: Intractable & Rare Diseases Research
Jun-Ichi Satoh, Yoshihiro Kino, Motoaki Yanaizu, Yuko Saito
Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of either triggering receptor expressed on myeloid cells 2 ( TREM2 ) or TYRO protein tyrosine kinase binding protein ( TYROBP ), alternatively named DNAX-activation protein 12 ( DAP12 ), both of which are expressed on microglia in the brain and form the receptor-adaptor complex that chiefly recognizes anionic lipids. TREM2 transmits the signals involved in microglial survival, proliferation, chemotaxis, and phagocytosis...
February 2018: Intractable & Rare Diseases Research
Naixiang Zhai, Yanqin Lu, Yanzhou Wang, Xiuzhi Ren, Jinxiang Han
Circular RNA (circRNA) is a non-linear form of RNA derived from exonic, intronic, and exon-intron gene regions. circRNAs are characterized by covalent closed loops, highly stable nuclease resistance, and specific expression in species and developmental stages. CircRNA molecules have been identified as playing roles in the regulation of cell transcription, transcriptional expression after translation, interactions with microRNAs, and protein coding. A high stability and tissue- and disease-specific expression allow circRNAs to serve as potential biomarkers both for diseases and prognosis...
February 2018: Intractable & Rare Diseases Research
Franchesca Cruz-Pérez, Salvador Vilá, Grissel Ríos, Luis M Vilá
Macrophage-activating syndrome (MAS) is a rare condition characterized by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leukocytes, and platelets. MAS is associated with infectious diseases, malignancies, and autoimmune rheumatic disorders. Herein, we present a 22-year-old Hispanic woman with SLE who was hospitalized because of a three-week history of fever, fatigue, polyarthralgia, nausea, and abdominal pain. Initial laboratories showed severe pancytopenia with marked elevation of liver enzymes and ferritin levels...
2018: Case Reports in Rheumatology
Liziane Cattelan Donaduzzi, Angélica Reinheimer, Maria Augusta Ramires da Silva, Lucia de Noronha, Aline Cristina Batista Rodrigues Johann, Ademir Franco, Soraya de Azambuja Berti Couto, Paulo Henrique Couto Souza
Objective: To report a case of a challenging oral diagnosis involving a primary diffuse large B cell lymphoma of the oral cavity mimicking a hyperplastic reactive lesion. Case Report: A 72-year-old male patient was referred to the Department of Stomatology presenting a proliferative nodular lesion in the anterior region of the mandible involving the anterior teeth. The clinical examination revealed anterior teeth affected by periodontal disease, suggesting the nodular cession hyperplastic reaction...
2018: Case Reports in Pathology
Maya Laura König, Diana Henke, Katja Adamik, Cristina Pérez Vera
Case summary: A 3-month-old intact male Somali cat was evaluated for a history of seizures, hypoglycaemia and mental dullness 4 weeks after being bitten in the head by a dog. The cat's body size and weight were approximately half that of his littermates and its haircoat was woolly, with fewer guard hairs. Multiple hypoglycaemic episodes were documented over a period of 4 weeks, which resolved rapidly after correction of the hypoglycaemia. Juvenile hyposomatotropism was presumptively diagnosed by demonstrating low circulating levels of insulin-like growth factor 1 and after exclusion of other endocrine and non-endocrine causes of small stature and hypoglycaemia...
January 2018: JFMS Open Reports
Yen-Yu Lin, Wen-Hu Hsu, Mei-Han Wu, Teh-Ying Chou
A 47-year-old woman presented with spontaneous right side pneumothorax. Image studies showed consolidations and reticular opacities involving the pleural and subpleural regions of bilateral lungs. Wedge biopsy specimens of right upper, middle and lower lobes showed fibrosis of the visceral pleura and subpleural area in all three lobes, more significant in the upper lobe. Elastic Van Gieson stain showed a pattern of alveolar septal elastosis with intra-alveolar fibrosis. The clinical presentation and pathological findings are compatible with pleuroparenchymal fibroelastosis, a rare and distinct type of interstitial lung disease...
2018: SAGE Open Medical Case Reports
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