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https://www.readbyqxmd.com/read/28107209/nephropathic-cystinosis-an-update
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27894667/nuclear-pkm2-expression-an-independent-risk-factor-for-er-after-curative-resection-of-hepatocellular-carcinoma
#14
Fangtian Fan, Hongyan Wu, Zhaoguo Liu, Xianbang Hou, Wenxin Chen, Aiyun Wang, Yin Lu
Surgical resection, providing a long-term survival of hepatocellular carcinoma (HCC) patients, is regarded as one of the standard curative treatments of HCC if the tumor is resectable. However, 50% patients develop early recurrence (ER) during the first two years after operation, which are more diffuse and rarely treatable with unsatisfactory long-term survival. Unfortunately, the underlying mechanisms of ER after curative resection and the molecular markers with predictive and prognostic significance have never been identified yet...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27884763/acox2-deficiency-an-inborn-error-of-bile-acid-synthesis-identified-in-an-adolescent-with-persistent-hypertransaminasemia
#15
Maria J Monte, Marta Alonso-Peña, Oscar Briz, Elisa Herraez, Carmen Berasain, Josepmaria Argemi, Jesus Prieto, Jose J G Marin
BACKGROUND & AIMS: Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27 cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of peroxisomal enzymes involved in bile acid biosynthesis have been described. Here we aimed at investigating the case of an adolescent boy with persistent hypertransaminasemia of unknown origin and suspected dysfunction in bile acid metabolism. METHODS: Serum and urine samples were taken from the patient, his sister and parents and underwent HPLC-MS/MS and HPLC-TOF analyses...
November 21, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27879304/aortic-valve-fibroelastoma-a-rare-cause-of-stroke
#16
Vivek Kumar, Parita Soni, Arsalan Hashmi, Manfred Moskovits
The prevalence of primary cardiac tumours varies from 0.02% to 0.45%. Cardiac papillary fibroelastoma (CPF) is a rare tumour diagnosed incidentally on imaging. The clinical manifestations result from thromboembolisation and include transient ischaemic attack, stroke and sudden cardiac death. We present a patient aged 57 years with CPF arising from the aortic valve. The patient presented with right hemiparesis due to acute stroke. He received tissue plasminogen activator with complete resolution of neurological symptoms...
November 22, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#17
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27854092/nitrous-oxide-induced-subacute-combined-degeneration-presenting-with-dystonia-and-pseudoathetosis-a-case-report
#18
Hung-Ju Chen, Chih-Shan Huang
PURPOSE: Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD, exhibiting a combination of different involuntary movements. CASE REPORT: A 20-year-old woman presented with one month of progressive unsteady gait, involuntary movements and tingling sensation in a stocking-glove distribution...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27848124/reversible-cerebral-vasoconstriction-syndrome-and-posterior-reversible-encephalopathy-syndrome-associated-with-intracranial-hypotension
#19
Katharina Feil, Robert Forbrig, Franziska S Thaler, Julian Conrad, Suzette Heck, Franziska Dorn, Hans-Walter Pfister, Andreas Straube
BACKGROUND: Reversible cerebral vasoconstriction syndrome (RCVS) and posterior reversible encephalopathy syndrome (PRES) are both rare disorders. The pathophysiology of both diseases is not yet fully understood. METHODS: We report the unique case of a 19-year-old comatose woman who was brought to the ER after a series of generalized tonic-clonic seizures 6 days post peridural anesthesia for cesarean section. Vital signs and initial laboratory testing including urine analysis and drug screening were unremarkable...
November 15, 2016: Neurocritical Care
https://www.readbyqxmd.com/read/27842902/pseudoaneurysm-after-transpedal-arterial-access-for-evaluation-and-treatment-of-peripheral-arterial-disease
#20
Apurva Patel, Roosha Parikh, Yili Huang, Michael Liou, Justin Ratcliffe, Olivier F Bertrand, Joseph Puma, Tak W Kwan
BACKGROUND: There has been an increasing use of transpedal arterial access (TPA) for evaluation and treatment of peripheral arterial disease (PAD) over a transfemoral approach (TFA). TPA, it is expected to be associated with better patient comfort, less recovery time and possibly less access site complications compared to standard TFA. Access site complications and pseudoaneurysm (PSA) associated with the TPA have not been previously reported. OBJECTIVE: Here we report a series of pedal artery PSA related to access site complicating TPA catheterization...
October 17, 2016: Cardiovascular Revascularization Medicine: Including Molecular Interventions
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