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https://www.readbyqxmd.com/read/29781757/molecular-diagnosis-of-coenzyme-q-10-deficiency-an-update
#1
Delia Yubero, Raquel Montero, Carlos Santos-Ocaña, Leonardo Salviati, Placido Navas, Rafael Artuch
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients. Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease...
May 21, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#2
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29768383/treatable-massive-pericardial-effusion-and-hypertrophic-cardiomyopathy-in-an-infant-with-a-novel-homozygous-acadvl-mutation-a-case-report
#3
Yoo-Mi Kim, Geena Kim, Hoon Ko, Han-Wook Yoo, Hyoung Doo Lee
RATIONALE: Infantile-onset hypertrophic cardiomyopathy (HCMP) should be considered a largely genetic condition, although its onset is most often triggered by infection. Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive inborn error of mitochondrial fatty acid β-oxidation that often causes severe cardiomyopathy and/or sudden death during the neonatal period. PATIENT CONCERNS: Herein, we report an infant with VLCAD deficiency who presented with severe cardiac manifestations, including massive pericardial effusion and HCMP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766266/-syncope-and-fitness-to-drive
#4
REVIEW
Hermann H Klein
Although medical students are rarely instructed in traffic medicine in Germany, they are obliged to inform their patients about their fitness to drive after having become a medical doctor. This article gives an overview on the fitness to drive for patients with syncope by referring to the driving license regulation and the current guidelines released by the department of traffic. The driving license regulation distinguishes between group 1 and group 2 drivers. Group 1 drivers drive vehicles with a total weight less than 3...
May 15, 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29741120/late-onset-neutropenia-and-neurological-relapse-during-long-term-rituximab-therapy-in-myelin-oligodendrocyte-glycoprotein-antibody-spectrum-disorder
#5
Damien Biotti, Fleur Lerebours, Fabrice Bonneville, Jonathan Ciron, Michel Clanet, David Brassat
Late-onset neutropenia after rituximab therapy (LONART) is defined as a fall in the absolute neutrophil count below 500/mm3 at least 3 weeks after rituximab infusion, in the absence of any other explanation. LONART is rare during dysimmune conditions but can be life-threatening. We report on two patients with LONART and associated neurological relapse occurring in myelin oligodendrocyte glycoprotein (MOG)-antibody spectrum disorders. Rituximab was reintroduced in one patient, while the second patient was switched to tocilizumab...
May 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29731770/renovascular-mistaken-as-essential-hypertension-due-to-giant-hepatic-hydatid-a-rare-treatable-entity
#6
Awaji Qasim Alnami, Liaqat Ali Khan, Said Samir Qeshta, Abdulrahman Alnami, Akram Awad, Waleed Mohalwi, Musa Tumaihi
Renovascular hypertension is an unusual but treatable cause of refractory hypertension that is infrequently caused by external compression of the renal vasculature by a giant hydatid cyst, a parasitic infection, caused by Echinococcus granulosus in its larval stage which is endemic in many parts of the world including Saudi Arabia. The disease can produce a cyst in almost every part of the body with the liver and lungs being the most frequently targeted organs producing a variety of symptoms depending upon the site and size of the cyst...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29725842/motor-neuron-disease-of-paraneoplastic-origin-a-rare-but-treatable-condition
#7
Nicolas Mélé, Giulia Berzero, Thierry Maisonobe, François Salachas, Guillaume Nicolas, Nicolas Weiss, Guillemette Beaudonnet, Francois Ducray, Dimitri Psimaras, Timothée Lenglet
Paraneoplastic motor neuron disorders (MND) are rare conditions; their exact clinical and electrophysiological phenotype have not been exhaustively described yet. The purpose of this study is to depict the main characteristics of paraneoplastic MND to highlight the features that may allow its diagnosis. Based on the description of eight original cases, and on the revision of 21 patients identified from a systematic review of the literature, the main features of paraneoplastic MND can be summarized as follows: (1) subacute; (2) lower motor neuron syndrome, associated or not with upper motor neuron involvement; (3) predominant asymmetric upper limb involvement; (4) presence of other non-motor neurological manifestations, including sensory neuronopathy; (5) signs of inflammation in the cerebrospinal fluid (CSF); (6) neurological improvement or stabilization after immunotherapy and tumor treatment...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29720005/pulmonary-mycobacterial-spindle-cell-pseudotumor-a-report-of-3-cases-including-a-practical-approach-to-histopathologic-recognition-of-this-unusual-entity
#8
Katherine E Boylan, Brandon T Larsen, Brittany A Young, Erinn Downs-Kelly, Tanmay S Panchabhai, Earle S Collum, Leif Jensen, Lyska L Emerson
Mycobacterial spindle cell pseudotumor (MSP) is a rare benign spindle cell lesion containing acid-fact mycobacteria. These lesions are most commonly identified in the lymph nodes, skin, spleen, or bone marrow of immunocompromised patients and only rarely involve the lungs. We report 3 cases of pulmonary MSP, which include 2 patients who are known to be HIV-positive. The histopathological diagnosis of MSP in the lung lends itself to many challenges due to its rare incidence and its spindled tumor-like appearance...
May 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29627348/the-acute-treatment-of-methemoglobinemia-in-pregnancy
#9
Nels Grauman Neander, Carly A Loner, Jason M Rotoli
BACKGROUND: Methemoglobinemia can be a potentially lethal condition due to the hypoxic stress placed on the body. In pregnancy, the deleterious effects can be even more catastrophic. The benefits of treatment in all patients, especially in those who are pregnant, must outweigh the inherent risks of the therapies used to treat methemoglobinemia. CASE REPORT: We present a case of a 26-year-old Hispanic pregnant female at 30 weeks gestation presenting to the emergency department for chest pain, hypoxia, and cyanosis...
April 4, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29627032/factors-associated-with-distal-symmetric-polyneuropathies-in-adult-zambians-a-cross-sectional-observational-study-of-the-role-of-hiv-non-antiretroviral-medication-exposures-and-nutrition
#10
Michelle Kvalsund, Takondwa Chidumayo, Johanna Hamel, David Herrmann, Douglas Heimburger, Amanda Peltier, Gretchen Birbeck
BACKGROUND: Non-antiretroviral (ART) drug exposures and poor nutrition may be important modifiable risk factors for distal symmetric polyneuropathies (DSP) in sub-Saharan Africa. METHODS: We conducted a cross-sectional study of DSP prevalence and factors associated with DSP among clinic attendees in urban and rural Zambia. All participants underwent neurologist-performed examination. Laboratory investigations seeking comorbid risk factors for DSP were performed for DSP cases...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29599419/chitayat-hall-and-schaaf-yang-syndromes-a-common-aetiology-expanding-the-phenotype-of-magel2-related-disorders
#11
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat
BACKGROUND: Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. METHODS AND RESULTS: We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients...
March 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29594240/skull-base-or-cervical-vertebral-osteomyelitis-following-chemoradiotherapy-for-pharyngeal-carcinoma-a-serious-but-treatable-complication
#12
Nafisha Lalani, Shao Hui Huang, Coleman Rotstein, Eugene Yu, Jonathan Irish, Brian O'Sullivan
Osteomyelitis, infection of the bone and marrow, following high dose (chemo-)radiotherapy for head and neck cancer is uncommon and rarely seen in the cervical spine or temporal bone. Due to its proximity to critical structures, osteomyelitis in the latter regions could carry potentially important consequences. Furthermore, involvement near the skull base (e.g. temporal bone and high cervical vertebrae) presents unique challenges in diagnosis (especially in the differentiation from disease recurrence) and treatment, making early detection and timely intervention critical...
January 2018: Clinical and translational radiation oncology
https://www.readbyqxmd.com/read/29593251/targeting-mdmx-and-pkc%C3%AE-to-improve-current-uveal-melanoma-therapeutic-strategies
#13
R C Heijkants, M Nieveen, K C 't Hart, A F A S Teunisse, A G Jochemsen
Uveal melanoma (UM) is the most frequent ocular cancer in adults, accounting for ~5% of the total melanoma incidence. Although the primary tumor is well treatable, patients frequently develop metastases for which no curative therapy exists. Highly activated protein kinase C (PKC) is a common feature of UM and has shown potential as therapeutic intervention for UM patients. Unfortunately, PKC inhibition as single treatment appears to have only limited clinical benefit. Combining PKC inhibition with activation of p53, which is rarely mutated in UM, by MDM2 inhibitors has shown promising results in vitro and in vivo...
March 29, 2018: Oncogenesis
https://www.readbyqxmd.com/read/29575936/bilateral-simultaneous-primary-choroidal-melanomas-treated-with-palladium-103-plaque-radiation
#14
Abhilasha Maheshwari, Paul T Finger
PURPOSE: To provide a clinical description of a case of bilateral choroidal melanoma in a patient treated with palladium-103 (103 Pd) plaque brachytherapy. METHODS: An 81-year-old man presented with choroidal melanoma in both eyes. In consideration of tumor sizes and locations, treatment involved insertion of103 Pd radioactive plaque in the right eye followed by the left at an interval of 2 months. RESULTS: At 1-year follow-up, bilateral local control has been associated with apical tumor height regression, and visual acuity has been preserved (20/20 in the right eye and 20/25 in the left)...
March 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29563171/multicentre-observational-screening-survey-for-the-detection-of-cteph-following-pulmonary-embolism
#15
Nicolas Coquoz, Daniel Weilenmann, Daiana Stolz, Vladimir Popov, Andrea Azzola, Jean-Marc Fellrath, Hans Stricker, Alberto Pagnamenta, Sebastian Ott, Silvia Ulrich, Sandor Györik, Jérôme Pasquier, John-David Aubert
Chronic thromboembolic pulmonary hypertension (CTEPH) is a severe complication of pulmonary embolism. Its incidence following pulmonary embolism is debated. Active screening for CTEPH in patients with acute pulmonary embolism is yet to be recommended.This prospective, multicentre, observational study (Multicentre Observational Screening Survey for the Detection of Chronic Thromboembolic Pulmonary Hypertension (CTEPH) Following Pulmonary Embolism (INPUT on PE); ISRCTN61417303) included patients with acute pulmonary embolism from 11 centres in Switzerland from March 2009 to November 2016...
April 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29552897/gynecological-and-obstetrical-aspects-of-enterobius-vermicularis-infection
#16
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
https://www.readbyqxmd.com/read/29545962/subcutaneous-granulomatous-inflammation-due-to-basidiobolomycosis-case-reports-of-3-patients-in-buruli-ulcer-endemic-areas-in-benin
#17
Luc V C Brun, Jean Jacques Roux, Ghislain E Sopoh, Julia Aguiar, Miriam Eddyani, Wayne M Meyers, Dirk Stubbe, Marie T Akele Akpo, Françoise Portaels, Bouke C de Jong
Background: Basidiobolomycosis is a rare subcutaneous mycosis, which can be mistaken for several other diseases, such as soft tissue tumors, lymphoma, or Buruli ulcer in the preulcerative stage. Microbiological confirmation by PCR for Basidiobolus ranarum and culture yield the most specific diagnosis, yet they are not widely available in endemic areas and with varying sensitivity. A combination of histopathological findings, namely, granulomatous inflammation with giant cells, septate hyphal fragments, and the Splendore-Hoeppli phenomenon, can confirm basidiobolomycosis in patients presenting with painless, hard induration of soft tissue...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29534203/behavioral-variant-frontotemporal-dementia-as-a-serious-complication-of-spontaneous-intracranial-hypotension
#18
Wouter I Schievink, M Marcel Maya, Zachary R Barnard, Franklin G Moser, Stacey Jean-Pierre, Alan D Waxman, Miriam Nuño
BACKGROUND: Behavioral variant frontotemporal dementia (bvFTD) is a devastating early onset dementia. Symptoms of bvFTD may be caused by spontaneous intracranial hypotension (SIH), a treatable disorder, but no comprehensive study of such patients has been reported. OBJECTIVE: To describe detailed characteristics of a large cohort of patients with SIH and symptoms of bvFTD. METHODS: We identified patients with SIH who met clinical criteria for bvFTD...
March 8, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29527382/bronchogenic-cyst-as-an-unusual-cause-of-a-persistent-cough-and-wheeze-in-children-a-case-report-and-literature-review
#19
Ahmed Abushahin, Abdulla Zarroug, Magda Wagdi, Ibrahim Janahi
Wheezing and cough are common case scenarios that pediatricians encountered in their office practices. Although a bronchogenic cyst is an uncommon condition, it is essential to be considered in the differential diagnosis of a chronic cough and wheezing among young children who fail to respond to appropriate medical treatment. A 28-month-old girl was referred to our pediatric pulmonology clinic with persistent symptoms of a cough and wheeze unresponsive to standard asthma therapy. This presentation prompted us to undertake a detailed diagnostic evaluation...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29523913/-autoimmune-encephalitis-with-psychotic-symptoms-diagnostics-warning-signs-and-practical-approach
#20
REVIEW
J Steiner, H Prüß, S Köhler, A Hasan, P Falkai
Despite intensive research, a precise cause of schizophrenic and schizoaffective disorders has not yet been identified. Therefore, psychiatric diagnoses are still made based on clinical ICD-10/DSM‑5 criteria and not on any objective markers; however, various causes or pathophysiological processes may ultimately lead to similar symptoms. An important task for the future of psychiatry is to identify disease subtypes with a distinct pathophysiology to develop more specific and causally acting therapies. A new diagnostic entity has become established in clinical neurology and psychiatry in recent years: autoimmune encephalitis with psychotic symptoms caused by specific antineuronal antibodies has been identified as a rare but potentially treatable cause of psychotic disorders; however, these inflammatory brain diseases are not reliably detected by routine psychiatric diagnostics...
May 2018: Der Nervenarzt
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