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https://www.readbyqxmd.com/read/28210873/inborn-errors-of-metabolism-associated-with-psychosis-literature-review-and-case-control-study-using-exome-data-from-5090-adult-individuals
#1
Yannis J Trakadis, Vanessa Fulginiti, Mark Walterfang
A literature review was conducted, using the computerized "Online Mendelian Inheritance in Man" (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: "psychosis", "schizophrenia", or "hallucinations" and "metabolic", "inborn error of metabolism", "inborn errors of metabolism", "biochemical genetics", or "metabolic genetics". The OMIM search generated 126 OMIM entries, 40 of which were well known IEM...
February 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#2
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28203451/case-report-a-rare-cause-of-complicated-urinary-tract-infection-in-a-woman-with-herlyn-werner-wunderlich-syndrome
#3
Jun-Li Tsai, Shang-Feng Tsai
INTRODUCTION: Urinary tract infection is a common disease in the general population. However, in patients with frequent urinary tract infection, it is important to determine any treatable cause to avoid recurrence. CASE PRESENTATION: Herlyn-Werner-Wunderlich syndrome or OHVIRA syndrome is a very rare congenital anomaly with uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The earliest presentation of this syndrome is hematocolpos that develops during menstruation and results in dysmenorrhea and a pelvic mass shortly after menarche...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28186472/clinical-presentation-and-treatment-outcomes-of-spinal-epidural-arteriovenous-fistulas
#4
Deena M Nasr, Waleed Brinjikji, Michelle J Clarke, Giuseppe Lanzino
OBJECTIVE Spinal epidural arteriovenous fistulas (SEDAVFs) constitute a rare but treatable cause of vascular myelopathy and are a different subtype from the more common Type I spinal dural AVFs. The purpose of this study was to review a consecutive series of SEDAVFs from a single institution and report on the clinical presentations, functional status, and treatment outcomes. METHODS The authors identified all SEDAVFs treated at their institution from 2005 to 2015. SEDAVFs were defined as spinal AVFs in which the fistulous connection occurred in the epidural venous plexus...
February 10, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28180054/anterior-skull-base-glomangioma-induced-osteomalacia
#5
Malia S Gresham, Steven Shen, Yi J Zhang, Kelly Gallagher
Oncogenic osteomalacia (OO) is an uncommon but treatable cause of osteomalacia related to tumor production of FGF23, usually caused by benign mesenchymal neoplasms. Paranasal sinus glomangiomas are a rare cause of OO, with only one previously reported case. Here we describe a second case (first reported in English) of paranasal sinus glomangioma-induced osteomalacia in a 42-year-old man. He presented with weakness and multiple spontaneous fractures, and was found to have an ethmoid sinus glomangioma with intracranial extension...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28132791/a-rare-seizure-tumor-lysis-syndrome-after-radiation-therapy-of-a-solid-tumor
#6
Sean Stuart, Jonathan Auten
Tumor lysis syndrome (TLS) is an uncommon but life threatening condition seen in oncology patients. Due to its underlying pathophysiology, it is classically associated with hematologic malignancies following chemotherapeutic treatment. In this article, we present a case of TLS in the setting of two rare features: a solid tumor malignancy and the absence of recent chemotherapy. We briefly review risk factors and the diagnosis of this potentially fatal but treatable condition.
January 16, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28119378/guanidinoacetate-methyltransferase-gamt-deficiency-a-rare-but-treatable-epilepsy
#7
William M Stern, Joel S Winston, Elaine Murphy, J Helen Cross, Josemir W Sander
Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are also challenging to investigate, as they may not tolerate standard epilepsy tests.We present such a case in which simple tests identified a unifying diagnosis...
January 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#8
Koenraad R Veys, Mohamed A Elmonem, Fanny O Arcolino, Lambertus van den Heuvel, Elena Levtchenko
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes. RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeutic aspects of cystinosis...
January 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28097850/-a-regenerative-anemia-in-infants-2-cases-of-pearson%C3%A2-s-syndrome
#9
José M Martínez de Zabarte Fernández, Carmen Rodríguez-Vigil Iturrate, Cristina Martínez Faci, Inmaculada García Jiménez, Laura Murillo Sanjuan, Ascensión Muñoz Mellado
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28076012/imaging-of-creutzfeldt-jakob-disease-imaging-patterns-and-their-differential-diagnosis
#10
Diego Cardoso Fragoso, Augusto Lio da Mota Gonçalves Filho, Felipe Torres Pacheco, Bernardo Rodi Barros, Ingrid Aguiar Littig, Renato Hoffmann Nunes, Antônio Carlos Martins Maia Júnior, Antonio J da Rocha
Diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) remains a challenge because of the large variability of the clinical scenario, especially in its early stages, which may mimic several reversible or treatable disorders. The molecular basis of prion disease, as well as its brain propagation and the pathogenesis of the illness, have become better understood in recent decades. Several reports have listed recognizable clinical features and paraclinical tests to supplement the replicable diagnostic criteria in vivo...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28060695/-extensive-myelitis-as-a-manifestation-of-neuroborreliosis
#11
Ana Brás, Nuno Marques, Beatriz Santiago, Anabela Matos, Fradique Moreira
Neurological manifestations of Lyme disease are reported in 3% - 12% of patients, with the most common form of presentation being meningoradiculitis. Other symptoms involving the central nervous system, such as myelitis or encephalitis, are rare (< 5 %). We report a case of a 66-year-old male, with a subacute extensive transverse myelitis, secondary to Borrelia burgdorferi infection. The patient underwent antibiotic therapy filed for neuroborreliosis with a good clinical outcome. The rareness in clinical symptoms and imaging presentation, based on a treatable infectious disease, highlights the importance of the inclusion of neuroborreliosis in the differential diagnosis of longitudinally extensive transverse myelitis...
September 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#12
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28009765/autoimmune-encephalitides-a-broadening-field-of-treatable-conditions
#13
Bernadette Kalman
BACKGROUND: Neurology has been continuously transforming by the refinement of molecular diagnostics and the development of disease-modifying treatments. The discovery of new antibody markers has elucidated the pathogenesis, provided the means of diagnostics, and offered cure or treatment for several immune-mediated neurological and neuropsychiatric disorders. The identification of pathogenic and marker autoantibodies has also facilitated defining the associated phenotypic spectra and the overlap among the phenotypes linked to individual immune markers...
January 2017: Neurologist
https://www.readbyqxmd.com/read/28009406/the-frequency-and-causes-of-abnormal-head-position-based-on-an-ophthalmology-clinic-s-findings-is-it-overlooked
#14
Kadriye Erkan Turan, Hande Taylan Sekeroglu, Irem Koc, Meltem Kilic, Ali S Sanac
PURPOSE: To determine the frequency of abnormal head position (AHP) and identify the underlying causes in patients who presented to an ophthalmology clinic due to any ophthalmologic complaint. METHODS: The medical records of patients who presented with any ophthalmologic symptoms during a 6-month period were prospectively evaluated. In all, 2,710 patients (1,492 female and 1,218 male) aged 6 months-91 years were included in the study. Each patient underwent complete ophthalmologic evaluation...
December 2, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/27992417/mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#15
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27979465/open-access-phone-triage-for-veterans-with-suspected-malignant-pleural-mesothelioma
#16
Charles Jeff Siegert, Piero Marco Fisichella, Jennifer M Moseley, Melina Shoni, Abraham Lebenthal
BACKGROUND: Phone triaging patients with suspected malignant pleural mesothelioma (MPM) within the Veterans Healthcare Administration (VHA) system offers a model for rapid, expert guided evaluation for patients with rare and treatable diseases within a national integrated healthcare system. To assess feasibility of national open access telephone triage using evidence-based treatment recommendations for patients with MPM, measure timelines of the triage and referral process and record the impact on "intent to treat" for patients using our service...
January 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/27968871/global-prevalence-and-epidemiological-characteristics-of-congenital-cataract-a-systematic-review-and-meta-analysis
#17
Xiaohang Wu, Erping Long, Haotian Lin, Yizhi Liu
BACKGROUND: Congenital cataract is the primary cause of treatable childhood blindness worldwide. The establishment of reliable, epidemiological estimates is an essential first step towards development of causal and management strategies. We therefore undertook an initial systematic review and meta-analysis to estimate the global prevalence and other epidemiological characteristics of congenital cataract. METHODS: We searched PubMed, Medline, Web of Science, Embase, and Cochrane Library databases with a combination of search terms, including "congenital cataract", "prevalence", "epidemiology", "population", and "survey", up to January, 2015...
October 2016: Lancet
https://www.readbyqxmd.com/read/27935023/causes-of-mortality-in-individuals-with-tuberous-sclerosis-complex
#18
Sam Amin, Andrew Lux, Nuala Calder, Matthew Laugharne, John Osborne, Finbar O'callaghan
AIM: The causes of death in patients with tuberous sclerosis complex (TSC) have rarely been studied, with only one published account, which was reported from the Mayo Clinic in 1991. We aimed to investigate mortality in a large cohort of patients with TSC from one of two national referral clinics in the UK. METHOD: We identified 284 patients who attended Bath TSC clinic between 1981 and 2015, and ascertained causes of death by reviewing medical records, death certificates, and postmortem reports...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27917225/abdominal-epilepsy-as-an-unusual-cause-of-abdominal-pain-a-case-report
#19
Yilmaz Yunus, Ustebay Sefer, Ulker Ustebay Dondu, Ozanli Ismail, Ehi Yusuf
INTRODUCTION: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. OBJECTIVES: In this article, we report on 5 year old girl patient with abdominal epilepsy. METHODS: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found...
September 2016: African Health Sciences
https://www.readbyqxmd.com/read/27903000/fournier-s-gangrene-of-the-penis-in-a-12-year-old-patient-secondary-to-phimosis
#20
Luther Ward, Daniel Eisenson, Jean-Louis Fils
We report a case of Fournier's gangrene in a 12-year-old boy from St. Boniface Hospital in Fond-des-Blancs, Haiti. Fournier's gangrene, a fulminant necrotizing fasciitis of the penis and scrotum, is a rare and life-threatening infection that requires hospitalization, broad-spectrum antibiotics, and surgical debridement.1-3 It is usually associated with impaired cellular immunity due to systemic disorders such as diabetes and liver disease.4,5 This patient had none of those risk factors, but had severe, longstanding phimosis, for which circumcision had been recommended many years before...
December 1, 2016: Rhode Island Medical Journal
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