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https://www.readbyqxmd.com/read/29786144/self-initiated-use-of-topical-cannabidiol-oil-for-epidermolysis-bullosa
#1
Malcolm P Chelliah, Zachary Zinn, Phoung Khuu, Joyce M C Teng
Epidermolysis bullosa is a rare blistering skin disorder that is challenging to manage because skin fragility and repeated wound healing cause itching, pain, limited mobility, and recurrent infections. Cannabidiol, an active cannabinoid found in cannabis, is postulated to have antiinflammatory and analgesic effects. We report 3 cases of self-initiated topical cannabidiol use in patients with epidermolysis bullosa in an observational study. One patient was weaned completely off oral opioid analgesics. All 3 reported faster wound healing, less blistering, and amelioration of pain with cannabidiol use...
May 22, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29786003/spontaneous-subconjunctival-abscess-in-congenital-lamellar-ichthyosis
#2
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785752/skin-lesions-over-the-pocket-area-that-may-mimic-cardiac-implantable-electronic-device-infection-a-case-series
#3
Panagiotis Korantzopoulos, Sofia Plakoutsi, Elizabeth Florou, Aris Bechlioulis
BACKGROUND: The early and correct diagnosis of cardiac implantable electronic device (CIED) infections is critical given that early aggressive treatment with complete removal of the system along with antimicrobial therapy dramatically improves outcomes. Pocket infection manifested by local signs of inflammation is the most common form of CIED infections. Conditions mimicking pocket infection have been described in the literature. These include various types of malignancy and rarely allergic reactions/contact dermatitis to pacemaker compounds...
May 21, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29785310/a-challenging-case-of-kikuchi-fujimoto-disease-associated-with-systemic-lupus-erythematosus-and-review-of-the-literature
#4
Mihaela Găman, Ana-Maria Vlădăreanu, Camelia Dobrea, Minodora Onisâi, Cristina Marinescu, Irina Voican, Daniela Vasile, Horia Bumbea, Diana Cîşleanu
Kikuchi-Fujimoto disease (KFD) or histiocytic necrotizing lymphadenitis is a rare disease that is frequently underdiagnosed due to clinical features that are similar to those of non-Hodgkin lymphomas, systemic lupus erythematosus (SLE), or infectious reactive lymphadenopathy. An excisional biopsy is required. We report a young Caucasian female diagnosed with KFD with skin lesions, complicating with SLE. The clinical course, laboratory, and CT findings are described, as are histopathologic features, for a better recognition of this rare disorder in clinical practice...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29785254/low-rates-of-patient-reported-outcome-claims-for-orphan-drugs-approved-by-the-us-food-and-drug-administration
#5
Szymon Jarosławski, Pascal Auquier, Borislav Borissov, Claude Dussart, Mondher Toumi
Background : Claims included in package inserts (PIs) for medicinal products approved by the US Food and Drug Administration (FDA) constitute the regulatory definition of drugs' benefits and risks. Objective : We sought to assess the usage of patient-reported outcome (PRO) claims in a comprehensive set of US FDA orphan drug approvals dated between 1/1/2012 and 31/12/2016, and characterize them. Study design : Orphan drug approval documentation was obtained from the US FDA website. Drug Package Inserts (PI) were analyzed to extract information on PRO-related language...
2018: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/29784572/the-burden-of-familial-chylomicronemia-syndrome-results-from-the-global-in-focus-study
#6
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29784018/adding-colchicine-to-immunosuppressive-treatments-a-potential-option-for-biologics-refractory-adult-onset-still-s-disease
#7
Tomoyuki Asano, Makiko Yashiro Furuya, Shuzo Sato, Hiroko Kobayashi, Hiroshi Watanabe, Eiji Suzuki, Kiyoshi Migita
BACKGROUND: Adult-onset Still's disease (AOSD) is a rare inflammatory disorder characterized by the classical triad of daily spiking fever, arthritis, and typical salmon-colored rash. Resistance to first-line corticosteroids and second-line disease modified anti-rheumatic-drugs defines refractory AOSD, which mostly includes the polycyclic or chronic courses of the disease. Anti-cytokine therapies are recommended in AOSD patients who are refractory to traditional treatments. This is the first report on the efficacy of colchicine in a patient with AOSD which was refractory to immunosuppressive treatments including biologics...
May 21, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29783976/possible-multiple-system-atrophy-with-predominant-parkinsonism-in-a-patient-with-chronic-schizophrenia-a-case-report
#8
Hiroshi Komatsu, Masaaki Kato, Teiko Kinpara, Takashi Ono, Yoshihisa Kakuto
BACKGROUND: Multiple system atrophy (MSA) is an adult-onset, rare, and progressive neurodegenerative disorder characterized by a varying combination of autonomic failure, cerebellar ataxia, and parkinsonism. MSA is categorized as MSA-P with predominant parkinsonism, and as MSA-C with predominant cerebellar features. The prevalence of MSA has been reported to be between 1.86 and 4.9 cases per 100,000 individuals. In contrast, approximately 1% of the population is affected by schizophrenia during their lifetime; therefore, MSA-P comorbidity is very rare in schizophrenic patients...
May 21, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29783860/giant-juvenile-xanthogranuloma-case-report-literature-review-and-algorithm-for-classification
#9
Malika A Ladha, Richard M Haber
Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic cells. Classic JXG is divided into 2 main clinical subtypes: dome-shaped papules (<0.5 cm) and single/multiple nodules (<2.0 cm). A rare variant is referred to as giant; this term encompasses JXG lesions larger than 2.0 cm. In this article, we report a case of a congenital cutaneous giant JXG. In addition, we reviewed and analyzed all cases (n = 51) of giant JXG reported in the English literature...
May 1, 2018: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#10
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#11
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29782305/tatami-mats-a-source-of-pitted-keratolysis-in-a-martial-arts-athlete
#12
Anamaria Balić, Zrinka Bukvić Mokos, Branka Marinović, Daniela Ledić Drvar
Dear Editor, Pitted keratolysis (PK), also known as keratosis plantaris sulcatum, is a non-inflammatory, bacterial, superficial cutaneous infection, characterized by many discrete superficial crateriform ''pits'' and erosions in the thickly keratinized skin of the weight-bearing regions of the soles of the feet (1). The disease often goes unnoticed by the patient, but when it is noticed it is because of the unbearable malodor and hyperhidrosis of the feet, which are socially unacceptable and cause great anxiety to many of the patients...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29781892/evidence-for-the-perception-of-time-distortion-during-episodes-of-alice-in-wonderland-syndrome
#13
Yu Jia, Ying Miao
Alice in Wonderland syndrome (AIWS) is a rare perceptual disorder associated with sensation of one or several visual and/or auditory perceptual distortions including size of body parts, size of external objects, or passage of time (either speeding up or slowing down). Cause for AIWS is yet to be widely agreed, and the implications are widely varied. One of the research difficulties is the brevity of each episode, typically not exceeding few tens of minutes. This article presents a male adult in late 20s who has apparently experienced AIWS episodes since childhood, and infection has been ruled out...
May 17, 2018: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/29781757/molecular-diagnosis-of-coenzyme-q-10-deficiency-an-update
#14
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/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#15
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29780794/pediatric-scurvy-when-contemporary-eating-habits-bring-back-the-past
#16
Alice Brambilla, Cristina Pizza, Donatella Lasagni, Lucia Lachina, Massimo Resti, Sandra Trapani
Vitamin C deficiency is anecdotal in developed countries, mainly associated with underling clinical morbidities as autism or neurological impairment. Chronic insufficient dietary supply is responsible for vascular fragility and impaired bone formation, resulting in gingival bleeding, petechial lesions, articular and bone pain or limb swelling. Children may present anorexia, irritability, failure to thrive, limping or refusal to walk. Accordingly, pediatric scurvy is frequently misdiagnosed with osteomyelitis, septic arthritis, bone and soft tissue tumor, leukemia, bleeding disorders, and rheumatologic conditions...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29780592/preleukemic-and-second-hit-mutational-events-in-an-acute-myeloid-leukemia-patient-with-a-novel-germline-runx1-mutation
#17
Isaac Ks Ng, Joanne Lee, Christopher Ng, Bustamin Kosmo, Lily Chiu, Elaine Seah, Michelle Meng Huang Mok, Karen Tan, Motomi Osato, Wee-Joo Chng, Benedict Yan, Lip Kun Tan
Background: Germline mutations in the RUNX1 transcription factor give rise to a rare autosomal dominant genetic condition classified under the entity: Familial Platelet Disorders with predisposition to Acute Myeloid Leukaemia (FPD/AML). While several studies have identified a myriad of germline RUNX1 mutations implicated in this disorder, second-hit mutational events are necessary for patients with hereditary thrombocytopenia to develop full-blown AML. The molecular picture behind this process remains unclear...
2018: Biomarker Research
https://www.readbyqxmd.com/read/29780591/chest-pain-from-pill-induced-esophagitis-a-rare-side-effect-of-ascorbic-acid
#18
Yu Zhang, Yarong Tong, Weihong Wang, Lei Xu
Pill-induced esophagitis is a rare cause of acute chest pain. Patients likely to be affected are those with underlying esophageal disorders, those who ingest medications without a sufficient amount of water, or adopt a supine position during or shortly after swallowing medication. Esophagitis secondary to ingestion of ascorbic acid pills is extremely rare. Here, we report a case of ascorbic acid-induced esophagitis in a middle-aged adult, with no known underlying pathological abnormalities of the esophagus...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29780139/methotrexate-associated-intravascular-large-b-cell-lymphoma-in-a-patient-with-rheumatoid-arthritis-a-very-rare-case
#19
Masao Hagihara, Toru Mese, Shin Ohara, Jian Hua, Shiro Ide, Morihiro Inoue
we herein report a rare case of methotrexate (MTX)-associated intravascular large B-cell lymphoma (IVLBCL) in a man with rheumatoid arthritis. Two episodes of a fever of unknown origin accompanied by elevated levels of serum lactate dehydrogenase and the soluble interleukin-2 receptor occurred within a year, so the patient was suspected of having an MTX-associated lymphoproliferative disorder. His clinical symptoms resolved after the cessation of MTX. However, after treatment with iguratimod, another disease-modified anti-rheumatic drug, markedly similar symptoms recurred, and random skin biopsies resulted in a diagnosis of IVLBCL...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29780127/a-case-of-transient-pulmonary-interstitial-lesions-in-aquaporin-4-positive-neuromyelitis-optica-spectrum-disorder
#20
Yuko Asato, Toshiaki Kamitani, Kuniyuki Ootsuka, Mizuki Kuramochi, Kozo Nakanishi, Tetsuya Shimada, Toshiyuki Takahashi, Tatsuro Misu, Masashi Aoki, Kazuo Fujihara, Yoshinori Kawabata
We herein report the case of a 76-year old man with aquaporin-4-Immunoglobulin-G (AQP4-IgG)-positive neuromyelitis optica spectrum disorder (NMOSD), in whom transient interstitial pulmonary lesions developed at the early stage of the disease. Chest X-ray showed multiple infiltrative shadows in both upper lung fields, and computed tomography revealed abnormal shadows distributed randomly in the lungs. Surgical lung biopsy showed features of unclassifiable interstitial pneumonia, characterized by various types of air-space organization, which resulted in obscure lung structure...
May 18, 2018: Internal Medicine
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