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https://www.readbyqxmd.com/read/28817832/successful-use-of-grenz-rays-for-disseminated-superficial-actinic-porokeratosis-report-of-8-cases
#1
Egle Ramelyte, Matilda Bylaite-Bucinskiene, Reinhard Dummer, Laurence Imhof
BACKGROUND: Disseminated superficial actinic porokeratosis (DSAP) is a rare keratinization disorder with potential malignant transformation, for which present treatment strategies show limited success. AIM: To evaluate the response of DSAP lesions to grenz ray radiotherapy (RTx). METHODS: Data of patients treated with RTx at University Hospital Zurich, Switzerland, between 2004 and 2015, were reviewed. Patients with DSAP, who received at least 1 RTx treatment session and who had been followed up for at least 4 weeks were included in the further data analysis...
August 18, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28817490/an-open-trial-of-iloperidone-for-mixed-episodes-in-bipolar-disorder
#2
Vivek Singh, Jodi Gonzalez Arnold, Thomas J Prihoda, Melissa Martinez, Charles L Bowden
BACKGROUND: Mixed mood states in bipolar disorder are difficult to treat and when present indicate worse illness trajectories. Several medications are US Food and Drug Administration approved to treat mixed episodes; however, the clinical trials have been short term and rarely reported depression response. METHODS: We conducted a 5-month open-label trial examining the tolerability and efficacy of iloperidone for bipolar disorder mixed episodes. RESULTS: Mania and depression scores significantly improved over the course of the study for study completers (ie, 60%-68% improvement for manic symptoms and 41%-49% for depression symptoms)...
August 16, 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28817388/ophthalmologic-manifestations-of-systemic-vasculitis
#3
George N Papaliodis
PURPOSE OF REVIEW: To review the systemic vasculitides and associated ocular manifestations with emphasis on publications within the last 12 months. RECENT FINDINGS: There are multiple case reports demonstrating atypical ocular manifestations of systemic vasculitis. Often the eye findings are the initial presentation of the disorder and require a high degree of clinical suspicion to evaluate further as these conditions can compromise vision but some may also be life threatening...
August 16, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28817230/recent-findings-on-fulminant-type-1-diabetes
#4
REVIEW
Lan Liu, Ling Zeng, Dan Sang, Zeyuan Lu, Jie Shen
Fulminant type 1 diabetes (fT1D) is a new subtype of type 1 diabetes proposed by Imagawa in 2000. It is a clinical syndrome characterized by a markedly rapid and almost complete destruction of pancreatic β cells. Metabolic derangement is more severe in this subtype than in autoimmune type 1 diabetes. The incidence of fT1D is associated with HLA DRB1*04:05DQB1*04:01, both innate and acquired immune disorders might contribute to the development of fT1D. The presence of specific innate immune responses to enterovirus infection connected with enhanced adoptive immune pathways responsible for aggressive β cell toxicity in fT1D...
August 17, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#5
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816948/medial-medullary-infarction-caused-by-antineutrophil-cytoplasmic-antibody-related-vasculitis-case-report-and-review-of-the-literature
#6
Kumi Yanagiha, Kazuhiro Ishii, Tomoyuki Ueno, Aiki Marushima, Akira Tamaoka
RATIONALE: Medial medullary infarction accounts for less than 1% of brain infarctions, and medial medullary infarctions is very rarely caused by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. PATIENT CONCERNS: We report the case of a 76-year-old man at low risk of arteriosclerosis who presented with disorders on the left side including gaze-evoked nystagmus, paralysis of the extremities, pyramidal signs, sensory disturbance, and dysesthesia. Brain magnetic resonance imaging also showed right medial medullary infarction...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816832/reversible-splenial-lesion-syndrome-after-intravenous-immunoglobulin-treatment-for-guillain-barre-syndrome
#7
Elif Uygur Kucukseymen, Burcu Yuksel, Fatma Genc, Eylem Ozaydin Goksu, Sevim Yildiz, Yasemin Bicer Gomceli
Reversible corpus callosum splenial (CCS) lesions have been described in patients with varied etiologies. The most common causes of previously reported reversible focal lesions of the CCS are viral encephalitis, antiepileptic drug toxicity/withdrawal, and metabolic disorders. Intravenous immunoglobulin (IVIG) therapy is used for different immune-mediated diseases. It is generally safe, and serious adverse reactions are uncommon. We presented a rare case of disturbed consciousness with reversible CCS lesions after IVIG therapy for Guillain-Barre syndrome in an adult woman...
August 14, 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28816737/necrotizing-infundibular-crystalline-folliculitis-an-unusual-clinical-presentation-and-demonstration-of-the-presence-of-calcium-palmitate
#8
Aurélie Beaufrère, Valérie Garcia, Vincent Frochot, Thierry Molina, Michel Daudon, Sylvie Fraitag
Necrotizing infundibular crystalline folliculitis (NICF) is a rare disorder, which was described for the first time by Lucke et al in 1999. NICF is characterized by multiple folliculocentric papules with a predilection for occurring in seborrheic areas in adults and corresponding dilated follicular ostia containing crystalline material. The precise pathogenesis and nature of this crystalline material are currently unknown. Here, we report an unusual case of NICF presented as an uncommon generalized skin rash in an adolescent...
August 8, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28816683/cardiorespiratory-model-based-data-driven-approach-for-sleep-apnea-detection
#9
Sandeep Gutta, Qi Cheng, Hoa Nguyen, Bruce Benjamin
Obstructive sleep apnea (OSA) is a chronic sleep disorder affecting millions of people worldwide. Individuals with OSA are rarely aware of the condition and are often left untreated, which can lead to some serious health problems. Nowadays, several low-cost wearable health sensors are available that can be used to conveniently and noninvasively collect a wide range of physiological signals. In this paper, we propose a new framework for OSA detection in which we combine the wearable sensor measurement signals with the mathematical models of the cardiorespiratory system...
August 14, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28816540/a-comparison-of-patient-and-health-care-professional-views-when-assessing-quality-of-information-on-pituitary-adenoma-available-on-the-internet
#10
Irena Druce, Chantal Williams, Carolyn Baggoo, Erin Keely, Janine Malcolm
Introduction Patients are increasingly turning to the internet to seek reliable sources of health information and desire guidance in assessing the quality of information as healthcare becomes progressively more complex. Pituitary adenomas are a rare, diverse group of tumors associated with increased mortality and morbidity whose management requires a multidisciplinary approach. As such, patients with this disorder are often searching for additional sources of healthcare information. Objective We undertook a study to assess the quality of information available on the internet for patients with pituitary adenoma...
August 17, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28816501/problematic-gaming-exists-and-is-an-example-of-disordered-gaming
#11
Mark D Griffiths, Daria J Kuss, Olatz Lopez-Fernandez, Halley M Pontes
Background The recent paper by Aarseth et al. (2016) questioned whether problematic gaming should be considered a new disorder particularly because "Gaming Disorder" (GD) has been identified as a disorder to be included in the next (11th) revision of the World Health Organization's International Classification of Diseases (ICD-11). Methods This study uses contemporary literature to argue why GD should be included in the ICD-11. Results Aarseth and colleagues acknowledge that there is much literature (including papers by some of the authors themselves) that some individuals experience serious problems with video gaming...
August 17, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28816234/novel-mutations-of-tcirg1-cause-a-malignant-and-mild-phenotype-of-autosomal-recessive-osteopetrosis-aro-in-four-chinese-families
#12
Xiao-Ya Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, PLEKHM1) were also found to be associated with human ARO. In order to expand the mutation spectrum and clinical diversity for a better understanding of the ARO phenotype and to further investigate the clinical characteristics of benign subjects with ARO, we here report five individuals with ARO from four unrelated Chinese families...
August 17, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28816198/lingual-frenectomy-in-joubert-syndrome
#13
Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree Sankeshwari
AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28815954/diaphanospondylodysostosis-and-ischiospinal-dysostosis-evidence-for-one-disorder-with-variable-expression-in-a-patient-who-has-survived-to-age-9-years
#14
Janet M Legare, Kristin Seaborg, Jennifer Laffin, Philip F Giampietro
Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#15
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815894/challenges-of-developing-and-conducting-clinical-trials-in-rare-disorders
#16
REVIEW
Lucas Kempf, Jonathan C Goldsmith, Robert Temple
Rare disease drug development is a rapidly expanding field. Clinical researchers in rare diseases face many challenges when conducting trials in small populations. Disease natural history is often poorly understood and the ability to detect clinically meaningful outcomes requires understanding of their rate of occurrence and variability, both of which contribute to difficulties in powering a study. Standard trial designs are not optimized to obtain adequate safety and efficacy data from small numbers of patients, so alternative designs (enrichment, crossover, adaptive, N-of 1) need to be considered...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815864/interstitial-deletion-5p14-1-p15-2-and-5q14-3-q23-2-in-a-patient-with-clubfoot-blepharophimosis-arthrogryposis-and-multiple-congenital-abnormalities
#17
Burhan Balta, Murat Erdogan, Ayse B Ergul, Yavuz Sahin, Alper Ozcan
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815635/associations-between-genomic-variants-in-alcohol-dehydrogenase-adh-genes-and-alcohol-symptomatology-in-american-indians-and-european-americans-distinctions-and-convergence
#18
Q Peng, Ian R Gizer, K C Wilhelmsen, C L Ehlers
BACKGROUND: Higher rates of alcohol use disorders (AUD) have been observed in some Native American (NA) populations than other ethnic groups such as Euro-Americans (EA) in the U.S. Previous studies have shown that variation in the alcohol dehydrogenase (ADH) genes may affect the risk for development of AUD, and that the prevalence of these variants differs depending on the ancestral origins of a population. METHODS: In the present study, we assessed sequencing variants in the ADH genomic region (ADH1-7) and tested for their associations with AUD phenotypes in two independent populations: an American Indian (AI) community sample and an EA cohort from the San Francisco Family Alcohol Study...
August 16, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28815029/nodular-regenerative-hyperplasia-rarely-leads-to-liver-transplantation-a-20-year-cohort-study-in-all-dutch-liver-transplant-units
#19
Berrie Meijer, Melek Simsek, Hans Blokzijl, Robert A de Man, Minneke J Coenraad, Gerard Dijkstra, Carin Mj van Nieuwkerk, Chris Jj Mulder, Nanne Kh de Boer
BACKGROUND: Nodular regenerative hyperplasia is an uncommon liver condition associated with several autoimmune disorders and drugs. The clinical symptoms of nodular regenerative hyperplasia vary from asymptomatic to severe complications of portal hypertension (nodular regenerative hyperplasia-syndrome). OBJECTIVE: The purpose of this study was to identify the prognosis and optimal management, as well as the role of liver transplantation, in nodular regenerative hyperplasia...
August 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/28814938/superior-mesenteric-artery-syndrome-in-association-with-abdominal-tuberculosis-an-eye-opener
#20
Shuchi Bhatt, Biswajit Mishra, Anupama Tandon, Smita Manchanda, G Parthsarathy
Superior Mesenteric Artery Syndrome (SMAS) is a rare clinical entity presenting as acute or chronic upper gastrointestinal obstruction. It occurs due to compression of third part of duodenum between abdominal aorta and overlying superior mesenteric artery caused by a decrease in angle between the two vessels. Rapid loss of retroperitoneal fat, in conditions leading to severe weight loss is the main factor responsible for this disorder. Superior mesenteric artery syndrome in association with abdominal tuberculosis has not been reported earlier to the best of our knowledge...
May 2017: Malaysian Journal of Medical Sciences: MJMS
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