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https://www.readbyqxmd.com/read/28424322/kaposi-sarcoma-inflammatory-cytokine-syndrome-kics-a-rare-but-potentially-treatable-condition
#1
Michael Karass, Emily Grossniklaus, Talal Seoud, Sanjay Jain, Daniel A Goldstein
Kaposi sarcoma inflammatory cytokine syndrome (KICS) is a newly-described condition affecting individuals who are HIV-positive and are infected with human herpesvirus 8 (HHV-8). This is a syndrome that in some ways mimics severe sepsis with associated acute respiratory distress syndrome, possibly requiring a ventilator and vasopressor support. However, unlike severe sepsis, antibiotics provide no benefit. Management of KICS has not been fully elucidated because of its high mortality rate. However, the syndrome has been successfully treated in some cases with immunomodulatory therapy...
April 19, 2017: Oncologist
https://www.readbyqxmd.com/read/28423095/first-reported-case-of-fulminant-tb-with-progression-of-infection-from-lungs-to-the-genitourinary-region
#2
Tatjana Adzic-Vukicevic, Aleksandra Barac, Aleksandra Dudvarski Ilic, Radmila Jankovic, Jovan Hadzi-Djokic, Dragica Pesut
Although tuberculosis (TB) is a curable disease, it continues to be one of the leading infections associated with death in the world. Extra-pulmonary TB (EPTB) occurs in approximately 10% of the total cases, presenting with lymph nodes, pleura, bone and genitourinary tract as the most common locations. Genitourinary tuberculosis, the second most common EPTB, is very difficult to diagnose unless there is a high index of suspicion. Isolated TB orchitis or prostatitis without clinical evidence of renal involvement is a rare entity among genitourinary tuberculosis...
April 13, 2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28408628/dentate-update-imaging-features-of-entities-that-affect-the-dentate-nucleus
#3
REVIEW
K M Bond, W Brinjikji, L J Eckel, D F Kallmes, R J McDonald, C M Carr
The dentate nucleus is a cerebellar structure involved in voluntary motor function and cognition. There are relatively few entities that affect the dentate, and the clinical features of these conditions are often complex and nonspecific. Because these entities are rarely encountered, the formulation of a differential diagnosis can be difficult. Many of the conditions are reversible or treatable with early intervention. Therefore, it is important to recognize classic clinical presentations and their associated characteristic imaging findings...
April 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28405088/dural-arteriovenous-fistula-as-a-treatable-dementia
#4
Ikponmwosa Enofe, Ike Thacker, Sadat Shamim
Dementia is a chronic loss of neurocognitive function that is progressive and irreversible. Although rare, dural arteriovenous fistulas (DAVFs) could present with a rapid decline in neurocognitive function with or without Parkinson-like symptoms. DAVFs represent a potentially treatable and reversible cause of dementia. Here, we report the case of an elderly woman diagnosed with a DAVF after presenting with new-onset seizures, deteriorating neurocognitive function, and Parkinson-like symptoms.
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28400903/neurosarcoidosis-presenting-with-recurrent-strokes-a-case-report-and-literature-review
#5
Naheed Raza, Karisa C Schreck
Neurosarcoidosis is a rare but important cause of stroke as it is treatable. Cases reported thus far have primarily been in young people who are relatively healthy. Here we report the case of a 73-year-old woman presenting with recurrent strokes and high-grade intracranial stenosis caused by probable neurosarcoidosis. This is unique as neurosarcoidosis is not usually considered as an etiology for recurrent strokes in our patient's age-group. We review and categorize published cases of neurosarcoidosis causing stroke and describe a classification scheme for certainty of diagnosis...
April 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28356090/anca-vasculitis-in-a-patient-with-alport-syndrome-a-difficult-diagnosis-but-a-treatable-disease
#6
Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid
BACKGROUND: Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy. CASE PRESENTATION: A-17 year old caucasian boy with a genetically proven X-linked Alport syndrome presented with progressive dyspnea, fatigue and pallor...
March 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28355320/clinical-characteristics-of-patients-with-cerebellar-ataxia-associated-with-anti-gad-antibodies
#7
Tiago Silva Aguiar, Andrea Fragoso, Carolina Rouanet de Albuquerque, Patrícia de Fátima Teixeira, Marcus Vinícius Leitão de Souza, Lenita Zajdenverg, Soniza Vieira Alves-Leon, Melanie Rodacki, Marco Antônio Sales Dantas de Lima
Methods: This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result: Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2...
March 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28352026/hyponatremia-secondary-to-acute-urinary-retention
#8
Jignesh Parikh, Shashank Dhareshwar, Shobhana Nayak-Rao, Indira Ramaiah
Acute urinary retention is a rare cause of hyponatremia. Symptomatic acute hyponatremia is of grave medical concern and needs to be managed aggressively. In our two cases with acute urinary retention, a simple bladder catheterization and drainage of urine followed by conservative management resulted in complete resolution of symptoms and normalization of sodium levels. Association of bladder distension and hyponatremia is considered to be due to release of vasopressin triggered by bladder distension itself or by pain due to bladder distension...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28351048/retinitis-pigmentosa-and-other-dystrophies
#9
Sarah Mrejen, Isabelle Audo, Sébastien Bonnel, José-Alain Sahel
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The prevalence of CME in RP has been found to be between 10 and 20% on fluorescein angiography-based studies, and as high as 49% on reports based on optical coherence tomography...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28333326/new-high-dose-pulsed-hyaluronidase-protocol-for-hyaluronic-acid-filler-vascular-adverse-events
#10
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
#11
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
#12
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: Annals of Hepato-Biliary-Pancreatic Surgery
https://www.readbyqxmd.com/read/28316848/strongyloides-hyperinfection-in-a-renal-transplant-patient-always-be-on-the-lookout
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
April 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
#19
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
#20
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
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