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https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#1
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29166635/the-protean-neuropsychiatric-and-vestibuloauditory-manifestations-of-neurosarcoidosis
#2
Jacqueline J Greene, Ilka C Naumann, Janet M Poulik, Kevin T Nella, Lindsay Weberling, Jeffrey P Harris, Akihiro J Matsuoka
BACKGROUND: A rare subset of sarcoidosis, neurosarcoidosis, is reported to occur in 5-7% of sarcoid patients and can manifest in a variety of ways. The most common are facial paralysis and optic neuritis, less commonly causing cochleovestibulopathy, blindness, anosmia, and other cranial nerve (CN) palsies. The sensory deficit may be severe and psychiatric symptoms may result from the effects of the disease or steroid treatment. Although MRI-compatible cochlear implants are now available, concerns about the feasibility of recoverable hearing with cochlear implantation in these patients as well as the practical difficulty of disease monitoring due to implant artifact must be considered...
November 23, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/29166608/s-nitrosylation-of-pink1-attenuates-pink1-parkin-dependent-mitophagy-in-hipsc-based-parkinson-s-disease-models
#3
Chang-Ki Oh, Abdullah Sultan, Joseph Platzer, Nima Dolatabadi, Frank Soldner, Daniel B McClatchy, Jolene K Diedrich, John R Yates, Rajesh Ambasudhan, Tomohiro Nakamura, Rudolf Jaenisch, Stuart A Lipton
Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). Mutations in these genes result in pathological dysregulation of mitophagy, contributing to neurodegeneration. Here, we report that environmental factors causing a specific posttranslational modification on PINK1 can mimic these genetic mutations. We describe a molecular mechanism for impairment of mitophagy via formation of S-nitrosylated PINK1 (SNO-PINK1). Mitochondrial insults simulating age- or environmental-related stress lead to increased SNO-PINK1, inhibiting its kinase activity...
November 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/29166521/case-for-diagnosis-systemic-light-chain-amyloidosis-with-cutaneous-involvement
#4
João Renato Vianna Gontijo, Jackson Machado Pinto, Maysa Carla de Paula
Systemic light chain amiloydosis is a rare disease. Due to its typical cutaneous lesions, dermatologists play an essential role in its diagnosis. Clinical manifestations vary according to the affected organ and are often unspecific. Definitive diagnosis is achieved through biopsy. We report a patient with palpebral amyloidosis, typical bilateral ecchymoses and cardiac involvement, without plasma cell dyscrasia or lymphomas. The patient died shortly after the diagnosis.
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166512/segmental-lichen-aureus-an-uncommon-presentation
#5
Pedro de Freitas Silva Torraca, Nathalia Dias Negrão Murback, Nayara de Castro Wiziack, Tânia Christina Marchesi de Freitas, Greicy Mara França
Pigmented purpuric dermatoses are chronic vascular inflammatory conditions characterized by the presence of pigmented macules. Among its different presentations, lichen aureus is distinguished by the lichenoid conformation of its plaques and the predilection for lower limb involvement. Its segmented form is rare and difficult to control, especially in cases of symptomatic lesions. We report a rare case of segmental lichen aureus with six years of evolution associated with light itching. We also discuss the main therapeutic approaches to control the disease...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166501/primary-cutaneous-t-cell-lymphoma-experience-from-the-peruvian-national-cancer-institute
#6
Rosana Ruiz, Zaida Morante, Raul Mantilla, Luis Mas, Luis Casanova, Henry L Gomez
BACKGROUND: Primary cutaneous T-cell lymphomas constitute a heterogeneous and rare group of diseases with regional particularities in Latin America. OBJECTIVE: To determine the clinicopathological features, relative frequency and survival among patients from a Peruvian institution. METHODS: Primary cutaneous T-cell lymphomas were defined based on the absence of extracutaneous disease at diagnosis. Classification was performed following the 2008 World Health Organization Classification of Neoplasms of the Hematopoietic and Lymphoid tissues...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166431/coexistence-of-morphea-and-granuloma-annulare-a-rare-case-report
#7
Şenay Ağırgöl, Özge Yöntem, Cem Leblebici, Tuğba Özkök Akbulut, Filiz Topaloğlu Demir, Zafer Türkoğlu
CONTEXT: Localized scleroderma (morphea) is characterized by fibrosis of skin and subcutaneous tissue. Granuloma annulare is a relatively common disease that is characterized by dermal papules and arciform plaques. CASE REPORT: Here, we present the case of a 42-year-old woman who developed granuloma annulare on the dorsum of her feet and abdominal region, and morphea on the anterior side of her lower limbs. We also discuss the etiological and pathogenetic processes that may cause the rare coexistence of these two diseases...
November 17, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/29166328/18f-fdg-pet-ct-imaging-of-hidradenocarcinoma-arising-from-preexisting-hidradenoma-of-the-knee
#8
Tirth V Patel, Jorge Oldan
Malignant tumors of the sweat glands are exceedingly rare and aggressive tumors. We present here a case of a 60-year-old man with a malignant hidradenocarcinoma that developed in a background of preexisting benign hidradenoma on the lateral aspect of the knee that was initially resected, but rapidly recurred with associated inguinal lymphadenopathy. F-FDG PET/CT was performed as part of preoperative staging, which demonstrated abnormal inguinal lymph nodes and metastatic disease to the lungs. FDG PET/CT can play an invaluable role in the initial staging and follow-up of this rare malignancy...
November 22, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29166257/raoultella-planticola-a-rare-cause-of-wound-infection
#9
Shana S Kalaria, Kristina Elliott, Neal Combs, Linda G Phillips
Raoultella planticola is a gram-negative, aerobic, rod bacterium commonly found in the environment, particularly in water, soil, and fish. This organism has been found to cause a variety of infections, such as necrotizing fasciitis, cystitis, cholecystitis, pancreatitis, hepatic disease, and soft tissue infections. The authors report the case of a 73-year-old-woman who presented with a R planticola wound infection of her left lower extremity after a dog scratch. She was treated successfully with local wound care using dehydrated human amnion/chorion and oral levofloxacin...
November 2017: Wounds: a Compendium of Clinical Research and Practice
https://www.readbyqxmd.com/read/29165898/thrombocytopenia-associated-multi-organ-failure-secondary-to-hyperglycemic-hyperosmolar-non-ketotic-syndrome-a-case-report
#10
Naile Tufan-Pekkucuksen, Maria Carolina Gazzaneo, Natasha Susana Afonso, Sarah J Swartz, Joseph R Angelo, Poyyapakkam Srivaths
Thrombocytopenia associated multi-organ failure (TAMOF) is a clinical syndrome with features of new onset thrombocytopenia, increased lactate dehydrogenase, and multi-organ failure in critically ill patients. TAMOF can be the initial presentation of an underlying disease process or can develop during the course of illness either during the hospital stay. TAMOF has a high mortality rate if not treated; therefore, early detection is critical. TAMOF has been rarely reported in diabetic ketoacidosis. We are describing the first case of a patient diagnosed with hyperglycemic, hyperosmolar non-ketotic syndrome who developed TAMOF on the third day of his hospital course...
November 22, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29165837/pulse-duration-settings-in-subthalamic-stimulation-for-parkinson-s-disease
#11
Frank Steigerwald, Lars Timmermann, Andrea Kühn, Alfons Schnitzler, Martin M Reich, Anna Dalal Kirsch, Michael Thomas Barbe, Veerle Visser-Vandewalle, Julius Hübl, Christoph van Riesen, Stefan Jun Groiss, Alexia-Sabine Moldovan, Sherry Lin, Stephen Carcieri, Ljubomir Manola, Jens Volkmann
BACKGROUND: Stimulation parameters in deep brain stimulation (DBS) of the subthalamic nucleus for Parkinson's disease (PD) are rarely tested in double-blind conditions. Evidence-based recommendations on optimal stimulator settings are needed. Results from the CUSTOM-DBS study are reported, comparing 2 pulse durations. METHODS: A total of 15 patients were programmed using a pulse width of 30 µs (test) or 60 µs (control). Efficacy and side-effect thresholds and unified PD rating scale (UPDRS) III were measured in meds-off (primary outcome)...
November 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29165811/synovial-sarcoma-of-the-shoulder-a-series-of-14-cases
#12
Bianca M Verbeek, Courtney L Kaiser, Ana B Larque, Francis J Hornicek, Kevin A Raskin, Joseph H Schwab, Yen-Lin Chen, Santiago A Lozano Calderón
BACKGROUND AND OBJECTIVES: Synovial sarcoma is a rare soft tissue sarcoma with poor long-term prognosis due to late recurrence and metastasis. Synovial sarcoma arises in less than 6% from the shoulder. As a result, there is limited information in the literature about synovial sarcoma of the shoulder (SSS). METHODS: We included all patients treated for SSS at our institution between 1985 and 2013. Medical charts were retrospectively reviewed to collect demographics, information about the clinical course, and outcome...
November 22, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29165768/recent-perspectives-of-pediatric-leukemia-an-update
#13
Q An, C-H Fan, S-M Xu
Leukemia is defined as an aberrant hyper-proliferation of immature blood cells that do not form solid tumor masses (i.e., liquid cancer). Usually, leukemia could be either of the myeloid or lymphoid lineages, and is classified as acute or chronic in nature. Chronic leukemias tend to have more mature cells and are rare in pediatric patients. Acute leukemias, on the other hand, are typically less mature and commonly occur in patients of all ages and are potentially rapidly fatal if not readily treated. The acute lymphoblastic leukemia (ALL) is the most common childhood malignancy...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165759/transient-receptor-potential-melastatin-4-cation-channel-in-pediatric-heart-block
#14
J Tian, X-J An, M-Y Fu
Progressive cardiac conduction disease (PCCD) is a common pediatric heart conduction disorder. It is an autosomal inheritance of rare mutations, which leads to familial cases of PCCD. In these cases, the His-Purkinje system's conductive capacity is progressively deranged, involving either right or left bundle branch block. Also, QRS complexes display widening is an important characteristic that culminates in complete AV block, syncope, and sudden death. Mutations in TRPM4 gene that encodes for transient receptor potential melastatin 4 have recently been reported to cause familial cases of PCCD and heart block...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165748/orbital-arteriovenous-fistula-around-the-optic-nerve-treated-by-transvenous-embolization
#15
Masayuki Sato, Yuji Matsumaru, Tatsuo Amano, Yuki Kamiya
(Background) Intraorbital arteriovenous fistula is a very rare disease, therefore an optimal treatment strategy has not yet been established. Here we describe the use of high-resolution cone-beam CT (CBCT) and selective angiography to visualize the detailed anatomy of orbital vessels. The information provided by the intra-operative imaging led to a change in treatment strategy and eventually to successful transvenous coil embolization. (Clinical presentation) A 55-year-old man presented with right exophthalmos, chemosis and diplopia 4 months previously...
October 11, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/29165738/alloantibodies-in-von-willebrand-disease
#16
Massimo Franchini, Pier Mannuccio Mannucci
von Willebrand disease (VWD), the most commonly known inherited bleeding disorder, is caused by a partial (type 1) or total (type 3) deficiency or dysfunction (type 2) of von Willebrand factor (VWF). Its management encompasses the prevention or treatment of bleeding by raising endogenous VWF levels using a synthetic agent, such as desmopressin, or providing exogenous VWF concentrates. The development of inhibitory alloantibodies against VWF is a rare but often severe complication encountered during the treatment of type 3 VWD, which is associated with a lack of hemostatic response to infused VWF concentrates and more rarely with allergic, even anaphylactic, reactions...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29165368/human-protoparvoviruses
#17
REVIEW
Elina Väisänen, Yu Fu, Klaus Hedman, Maria Söderlund-Venermo
Next-generation sequencing and metagenomics have revolutionized the discovery of novel viruses. In recent years, three novel protoparvoviruses have been discovered in fecal samples of humans: bufavirus (BuV) in 2012, tusavirus (TuV) in 2014, and cutavirus (CuV) in 2016. BuV has since been studied the most, disclosing three genotypes that also represent serotypes. Besides one nasal sample, BuV DNA has been found exclusively in diarrheal feces, but not in non-diarrheal feces, suggesting a causal relationship...
November 22, 2017: Viruses
https://www.readbyqxmd.com/read/29165298/nail-apparatus-melanoma-in-a-japanese-population-a-comparative-study-of-surgical-procedures-and-prognoses-in-a-large-series-of-151-cases
#18
Dai Ogata, Hisashi Uhara, Arata Tsutsumida, Naoya Yamazaki, Kosuke Mochida, Masahiro Amano, Shusuke Yoshikawa, Yoshio Kiyohara, Tetsuya Tsuchida
Nail apparatus melanoma (NAM) is a rare subtype of malignant melanoma with a prevalence that varies among populations. Conservative surgical approaches for thin to intermediate NAMs have recently been reported, however, their adoption is controversial, and resulting long-term prognoses are unknown. The purpose of this study was to determine the prognosis of NAM in a sample Asian population, and to investigate whether there is a difference in the local control and overall survival (OS) rates according to the extent of resection of the primary tumour...
November 22, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29165208/case-report-first-coinfection-report-of-mixed-leishmania-infantum-leishmania-major-and-human-immunodeficiency-virus-acquired-immune-deficiency-syndrome-report-of-a-case-of-disseminated-cutaneous-leishmaniasis-in-iran
#19
Alireza Badirzadeh, Mehdi Mohebali, Sadaf Sabzevari, Majid Ghafoori, Kourosh Arzamani, Mohammad Seyyedin, Seyed Ahmad Hashemi
Visceral leishmaniasis, a neglected tropical disease, is the third most common opportunistic disease in immunosuppressed patients, such as those affected by the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome. Although the reports have been characterized as Leishmania/HIV coinfections, the occurrence of a mixed infection by two Leishmania species in HIV-positive patients is rare. Here, we present an atypical case of disseminated cutaneous leishmaniasis (DCL) in a 26-year-old HIV-positive man...
November 20, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29165176/the-different-roles-of-innate-immune-receptors-in-inflammation-and-carcinogenesis-between-races
#20
Natsu Yamaguchi, Yoshimi Suzuki, M H Mahbub, Hidekazu Takahashi, Ryosuke Hase, Yasutaka Ishimaru, Hiroshi Sunagawa, Rie Watanabe, Yoshinobu Eishi, Tsuyoshi Tanabe
Innate immune factors exert widespread effects on cytokine secretion, cell survival, autophagy, and apoptosis. Nucleotide-binding and oligomerization domain-like receptors (NLRs) are members of the innate immune system in the cytosol that sense pathogens, endogenous danger molecules such as uric acid, and pollutants. Nucleotide-binding oligomerization domain-containing protein 1 and 2 (NOD1 and NOD2) are components of NLR family, and ligands of these factors are γ-D-glutamyl-meso-diaminopimelic acid (iE-DAP) and muramyl dipeptide (MDP), respectively...
October 11, 2017: Environmental Health and Preventive Medicine
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