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https://www.readbyqxmd.com/read/28333326/new-high-dose-pulsed-hyaluronidase-protocol-for-hyaluronic-acid-filler-vascular-adverse-events
#1
Claudio DeLorenzi
The purpose of this article is to update the changes to the author's protocols used to manage acute filler related vascular events from those previously published in this journal. For lack of a better term, this new protocol has been called the High Dose Pulsed Hyaluronidase (HDPH) protocol for vascular embolic events with hyaluronic acid (HA) fillers. The initial protocol used involved many different modalities of treatment. The current protocol is exceedingly simple and involves solely the use of hyaluronidase in repeated high doses...
March 17, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28318185/neonatal-acute-liver-failure-a-diagnosis-challenge
#2
Mirta Ciocca, Fernando Álvarez
Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio ≥ 3 is the critical parameter that defines it. The most common causes are fetal alloimmune hepatitis, previously called neonatal hemochromatosis, viral infections, metabolic disorders, and hemophagocytic lymphohistiocytosis. There is a group of treatable diseases that require a very early diagnosis for the prescription of an adequate treatment...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28317047/biliary-metastasis-in-colorectal-cancer-confers-a-poor-prognosis-case-study-of-5-consecutive-patients
#3
Frederick Hong-Xiang Koh, Wang Shi, Ker-Kan Tan
The biliary duct is an extremely rare site for colon cancer metastasis. It often leads to a diagnostic dilemma, since primary cholangiocarcinoma (potentially treatable with surgery) has a similar presentation. This paper highlights our experience with 5 consecutive patients who had colon malignancy with biliary metastasis, and prognosis of their disease. Five patients, with a history of primary colon cancer since 2010, were identified to have biliary metastasis. Of these, 4 (80.0%) patients were male. The median time to diagnosis of biliary metastasis from diagnosis of colon cancer was 59...
February 2017: Ann Hepatobiliary Pancreat Surg
https://www.readbyqxmd.com/read/28316848/strongyloides-hyperinfection-in-a-renal-transplant-patient-always-be-on-the-lookout
#4
Murtaza Mazhar, Ijlal Akbar Ali, Nelson Iván Agudelo Higuita
We present a case of a 71-year-old Vietnamese man with chronic kidney disease secondary to adult polycystic kidney disease. He had been a prisoner of war before undergoing a successful cadaveric renal transplant in the United States. He presented to clinic one year after the transplant with gross hematuria, productive cough, intermittent chills, and weight loss. Long standing peripheral eosinophilia of 600-1200/μL triggered further evaluation. A wet mount of stool revealed Strongyloides stercoralis larvae...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28298181/early-onset-of-adck4-glomerulopathy-with-renal-failure-a-case-report
#5
Ksenija Lolin, Benedetta D Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan, Khalid Ismaili
BACKGROUND: We present a rare early presentation of a ADCK4-related glomerulopathy. This case is of interest as potentially treatable if genetic results are timely obtained. CASE PRESENTATION: We report the case of a 5-year-old boy who was identified with significant proteinuria by a urinary routine screening program for school children. Physical examination revealed dysplastic ears and abnormal folded pinna. Albumin level was 41 g/L (39-53 g/L), and urine proteins/creatinine ratio was 2...
March 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#6
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283366/the-frequency-of-fabry-disease-among-young-cryptogenic-stroke-patients-in-the-city-of-sakarya
#7
Aslı Aksoy Gündoğdu, Dilcan Kotan, Murat Alemdar
BACKGROUND: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. METHODS: Acute ischemic stroke patients aged 18-55 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion...
March 7, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28275973/normal-neurological-development-during-infancy-despite-massive-hyperammonemia-in-early-treated-nags-deficiency
#8
Hallvard Reigstad, Berit Woldseth, Johannes Häberle
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated. An ammonia of 2,235 μmol/l was found, and treatment with sodium benzoate, sodium phenylacetate, arginine, glucose, and N-carbamylglutamate (NCG, Carbaglu(®)) was started...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28255845/anti-pd-l1-atezolizumab-induced-autoimmune-diabetes-a-case-report-and-review-of-the-literature
#9
REVIEW
Laura Hickmott, Hugo De La Peña, Helen Turner, Fathelrahman Ahmed, Andrew Protheroe, Ashley Grossman, Avinash Gupta
Programmed cell death-1 and programmed death ligand 1 (PD-1/PD-L1) inhibitors trigger an immune-mediated anti-tumour response by promoting the activation of cytotoxic T lymphocytes. Although proven to be highly effective in the treatment of several malignancies they can induce significant immune-related adverse events (irAEs) including endocrinopathies, most commonly hypophysitis and thyroid dysfunction, and rarely autoimmune diabetes. Here we present the first case report of a patient with a primary diagnosis of urothelial cancer developing PD-L1 inhibitor-induced autoimmune diabetes...
March 2, 2017: Targeted Oncology
https://www.readbyqxmd.com/read/28251010/neonatal-liver-failure-and-congenital-cirrhosis-due-to-gestational-alloimmune-liver-disease-a-case-report-and-literature-review
#10
Carolina Roos Mariano da Rocha, Renata Rostirola Guedes, Carlos Oscar Kieling, Marina Rossato Adami, Carlos Thadeu Schmidt Cerski, Sandra Maria Gonçalves Vieira
Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28250564/an-interesting-case-report-of-hematohidrosis
#11
Anu Rita Jayaraman, P Kannan, V Jayanthini
Hematohidrosis or hematidrosis is a rare condition in which a human being sweats blood. Psychogenic cause is found to be the most frequent cause among other causes such as systemic disease and vicarious menstruation. This is a case report of a 10-year-old girl with oozing of blood from intact skin of scalp. Underlying intense fear secondary to psychosocial stressor was identified and a provisional diagnosis of mixed anxiety and depressive disorder was made. Pharmacotherapy and psychotherapy were followed by complete remission...
January 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28248918/stroke-associated-with-varicella-zoster-vasculopathy-a-clinicoradiological-profile-of-3-patients
#12
Pradeep K Maurya, Dinkar Kulshreshtha, Ajai K Singh, Anup K Thacker
INTRODUCTION: Varicella zoster (VZ) vasculopathy is a rare but well recognized cause of stroke. In the absence of zoster rash and infection in remote past, the disease can pose diagnostic challenge. We report 3 cases of anterior circulation stroke occurring in close temporal relation to VZ. Their clinical, radiologic, and angiographic features are discussed. CASE REPORT: Of the 3 patients, 2 had stroke within a span of 4 to 6 weeks of herpes zoster ophthalmicus while the third patient had zoster of cervical dermatome...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28240038/atraumatic-splenic-rupture-as-a-complication-of-acute-exacerbation-of-chronic-pancreatitis-an-unusual-disease
#13
Elena Moya Sánchez, Antonio Medina Benítez
We report the case of a patient with acute exacerbation of chronic pancreatitis and he suffered an atraumatic splenic rupture. Splenic rupture not associated with trauma is a rare entity that can occurs in normal spleen (spontaneous) or damaged spleen (pathological). This entity may be associated with local inflammatory processes, such as pancreatitis. Ultrasound is a non-invasive technique which is used in unstable patients. CT is useful for making a diagnosis of extension in patients with hemodynamic stability...
February 27, 2017: Revista Española de Enfermedades Digestivas
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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