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Skin and gastrointestinal diseases

Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
BACKGROUND: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers...
August 8, 2018: BMC Medical Genetics
Maja Česen Mazič, Lenart Girandon, Miomir Kneževič, Simona L Avčin, Janez Jazbec
The most effective treatment of steroid refractory acute graft vs. host disease (aGvHD) is not yet established and mesenchymal stem cells (MSC) appear to be a promising therapy for the condition. We report single center case series of three patients, who underwent allogeneic hematopoietic cell transplantation and later developed steroid refractory graft-vs.-host disease, treated with MSC infusions. Two patients achieved complete remission and one patient partial remission of skin and/or gastrointestinal aGvHD...
2018: Frontiers in Bioengineering and Biotechnology
Tanja Miličević, Ivan Žaja, Deša Tešanović, Maja Radman
Laugier-Hunziker syndrome (LHS) is a rare, benign and acquired disorder characterized by hyperpigmentation of the oral cavity and lips along with longitudinal melanonychia. No underlying systemic abnormalities or malignant predisposition is associated with it. In everyday clinical practice, an endocrinologist encounters certain endocrine conditions (e.g. Addison's disease, McCune-Albright syndrome) that present with, inter alia, mucocutaneous hyperpigmentation. Even though LHS is easily distinguished from endocrine entities mentioned earlier, diagnostic evaluation usually requires skilled and thorough practitioner...
2018: Endocrinology, Diabetes & Metabolism Case Reports
Toshihide Yamamoto
In 1855, Thomas Addison described an illness now known as Addison disease (AD) caused by damage to the adrenal cortex and manifesting in weakness, weight loss, hypotension, gastrointestinal disturbances, and brownish pigmentation of the skin and mucous membranes. Corticosteroid supplementation, corticotropin (adrenocorticotropic hormone [ACTH] of medicinal use) test, and anti-adrenal auto-antibodies (AA) have come into use in the 100 years since Addison's death. Following the methodological innovations, 4 disorders which share impaired response to corticotropin in common have been discovered (i...
August 7, 2018: Endocrine Practice
Alojzija Hočevar, Matija Tomšič, Jože Pižem, Luka Bolha, Snežna Sodin-Šemrl, Damjan Glavač
IgA vasculitis (IgAV) represents a common systemic vasculitis in pediatric and adult population. Our current knowledge of disease pathogenesis is still very limited, without information on miRNAs in IgAV. The aim of our study was to determine the expression of five pre-selected miRNAs (miRNA-146a-5p, miRNA-148-3p, miRNA-155-5p, miRNA-223-3p, and let-7b) in the affected skin of adult IgAV patients. The study included 65 skin samples from consecutive, untreated IgAV patients (61.5% male, median age 67.6 years, range 29-91), diagnosed between October 2014 and September 2016, and 20 samples of normal skin from healthy volunteers...
August 6, 2018: Clinical Rheumatology
Satoshi Orimo
Neuropathological hallmarks of Lewy body disease including Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are Lewy bodies in not only the central nervous system but also the peripheral autonomic nervous system. α-synuclein is a presynaptic protein, and is a major constituent of Lewy bodies. The peripheral autonomic nervous system innervates various organs such as the gastrointestinal tract, the heart, the bladder, and the skin. Severe autonomic dysfunction is one of the supportive clinical features of DLB, and reduced cardiac MIBG uptake is an indicative biomarkers of DLB according to the revised criteria for the clinical diagnosis of DLB in 2017...
August 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
Santosha Vardhana, Kara Cicero, Moises J Velez, Craig H Moskowitz
The programmed death-1 (PD-1) receptor checkpoint inhibitors nivolumab and pembrolizumab represent an important therapeutic advance in the treatment of relapsed or refractory classical Hodgkin lymphoma (cHL). Clinical trials have shown substantial therapeutic activity and an acceptable safety profile in heavily pretreated patients, resulting in U.S. Food and Drug Administration approval of nivolumab for the treatment of cHL that has relapsed or progressed after either autologous hematopoietic cell transplantation (auto-HCT) and brentuximab vedotin treatment or three or more lines of systemic therapy (including auto-HCT), and of pembrolizumab for adult or pediatric patients with refractory cHL or cHL that has relapsed after three or more prior therapies...
August 6, 2018: Oncologist
Matteo Sbattella, Andrea Zanichelli, Paolo Ghia, Valter Gattei, Chiara Suffritti, Thomas Teatini, Marco Cicardi, Roberto Castelli
Angioedema due to acquired deficiency of the inhibitor of the first component of complement (C1-INH) is a rare disease known as acquired angioedema (AAE). About 70% of patients with AEE display autoantibodies to C1-INH, the remaining patients have no antibodies to C1-INH. The clinical features of C1-INH deficiency include recurrent, self-limiting local swellings involving the skin, the gastrointestinal tract, and the upper respiratory tract. Swelling is due to accumulation of bradykinin released from high molecular weight kininogen...
August 2, 2018: Medical Oncology
Ava M Vargason, Aaron C Anselmo
Next generation microbe-based therapeutics, inspired by the success of fecal microbiota transplants, are being actively investigated in clinical trials to displace or eliminate pathogenic microbes to treat various diseases in the gastrointestinal tract, skin, and vagina. Genetically engineered microbes are also being investigated in the clinic as drug producing factories for biologic delivery, which can provide a constant local source of drugs. In either case, microbe-therapeutics have the opportunity to address unmet clinical needs and open new areas of research by reducing clinical side effects associated with current treatment modalities or by facilitating the delivery of biologics...
May 2018: Bioengineering & Translational Medicine
Mariona Pascal, Marina Perez-Gordo, Teresa Caballero, Maria M Escribese, M Natividad Lopez Longo, Olga Luengo, Luis Manso, Victor Matheu, Elena Seoane, Miguel Zamorano, Moisés Labrador, Cristobalina Mayorga
Allergic diseases, such as respiratory, cutaneous, and food allergy, have dramatically increased in prevalence over the last few decades. Recent research points to a central role of the microbiome, which is highly influenced by multiple environmental and dietary factors. It is well established that the microbiome can modulate the immune response, from cellular development to organ and tissue formation exerting its effects through multiple interactions with both the innate and acquired branches of the immune system...
2018: Frontiers in Immunology
Serena Bergamo, Nicola di Meo, Giuseppe Stinco, Serena Bonin, Sara Trevisini, Giusto Trevisan
Dear Editor, Adamantiades-Behçet's disease (ABD) is an inflammatory disease classified as vasculitis, which was originally diagnosed in patients with aphthous stomatitis, genital ulcerations, and ocular manifestations. However, any organ or system may be involved, particularly the central and peripheral nervous systems, joints, as well as the gastrointestinal tract. The etiology of ABD is still not fully understood, but some evidence indicates that an autoimmune process could be triggered by an infectious or environmental agent specific for the geographic region (1)...
December 2017: Acta Dermatovenerologica Croatica: ADC
Isabel M McFarlane, Manjeet S Bhamra, Alexandra Kreps, Sadat Iqbal, Firas Al-Ani, Carla Saladini-Aponte, Christon Grant, Soberjot Singh, Khalid Awwal, Kristaq Koci, Yair Saperstein, Fray M Arroyo-Mercado, Derek B Laskar, Purna Atluri
Systemic sclerosis (SSc) is a rare autoimmune disease characterized by fibroproliferative alterations of the microvasculature leading to fibrosis and loss of function of the skin and internal organs. Gastrointestinal manifestations of SSc are the most commonly encountered complications of the disease affecting nearly 90% of the SSc population. Among these complications, the esophagus and the anorectum are the most commonly affected. However, this devastating disorder does not spare any part of the gastrointestinal tract (GIT), and includes the oral cavity, esophagus, stomach, small and large bowels as well as the liver and pancreas...
2018: Rheumatology: Current Research
A Tarasewicz, A Dębska-Ślizień, B Rutkowska, E Szurowska, M Matuszewski
Mammalian target of rapamycin inhibitors (mTORI) are increasingly used in the treatment of tuberous sclerosis complex (TSC) and as immunosuppressants after organ transplantation. In TSC patients, mTORI are the treatment of choice after kidney transplantation. It is still under debate if benefits from long-term mTORI use will not be limited by side effects. MATERIALS AND METHODS: We report long-term follow-up data of the first TSC patient after kidney transplantation treated with sirolimus de novo...
July 2018: Transplantation Proceedings
Michele Maria Luchetti, Devis Benfaremo, Anna Campanati, Elisa Molinelli, Monia Ciferri, Serena Cataldi, William Capeci, Marco Di Carlo, Anna Maria Offidani, Fausto Salaffi, Armando Gabrielli
Psoriatic arthritis (PsA) is a chronic inflammatory autoimmune arthritis, occurring in patients with psoriasis (Pso), that may affect the whole musculoskeletal system but also nails, eye, and gastrointestinal tract. Dermatologists and rheumatologists usually manage Pso and PsA separately, but early diagnosis and integrated management could achieve better outcomes of both skin and musculoskeletal manifestations, thus improving the health-related quality of life (HRQoL) of patients. In this work, we have described a model of integrated dermo-rheumatologic approach for the early diagnosis of PsA and to present the outcomes of the multidisciplinary management of PsA patients after 48 weeks of follow-up...
July 29, 2018: Clinical Rheumatology
Michael D Lewis, Amanda F Francisco, Shiromani Jayawardhana, Harry Langston, Martin C Taylor, John M Kelly
Chagas disease is a zoonosis caused by the protozoan parasite Trypanosoma cruzi. Transmission cycles are maintained by haematophagous triatomine bug vectors that carry infective T. cruzi in their faeces. Most human infections are acquired by contamination of mucosal membranes with triatomine faeces after being bitten, however, T. cruzi can be transmitted by several other routes. Oral transmission is an increasingly important aspect of Chagas disease epidemiology, typically involving food or drink products contaminated with triatomines...
July 26, 2018: Scientific Reports
Sravanthi Ravulapati, Craig Siegel, Ameesh Dara, Jack M Lionberger
We present an unusual case of myeloid sarcoma with ascites and abdominal pain in which initial clinical, laboratory, and imaging studies suggested a gastrointestinal malignancy or lymphoma. Subsequent detection of leukemic ascites and blasts in a gastric, small bowel, and skin biopsy supported a diagnosis of myeloid sarcoma. Bone marrow biopsy revealed 15% blasts, and cytogenetics with an inversion 16 rearrangement was diagnostic of acute myeloid leukemia (AML). Positron emission tomography-computed tomography performed at presentation to stage a presumptive lymphoma found later utility in following the burden of extramedullary disease...
May 14, 2018: Hematology Reports
Kexin Shen, Hai Luo, Jun Hu, Zhongshi Xie
RATIONALE: Extramammary Peget disease (EMPD) is a rare tumor, which typically occurs in the perianal regions. Perianal Paget disease (PPD) was first reported in 1893, and which has only 180 cases that have been reported in literature. The rarity of the disease means that no large studies have been made, and so the optimal treatment for this disease still remains controversial. PATIENT CONCERNS: In this case, we reported a 65-years-old female patient with PPD. The patient suffered intermittent pruritus in the perianal region for 1 year...
July 2018: Medicine (Baltimore)
Michiko Akiyama, Yoko Matsuda, Tomio Arai, Hidehisa Saeki
The present study examined the differences between gastrointestinal melanoma (GM) and skin melanoma (SM). The clinicopathological characteristics, the expression of melanoma stem cell markers nestin, sex determining region Y-box 2 and ATP-binding cassette sub-family B member 5, and the presence of the BRAFV600E mutation were evaluated in 10 cases of GM and 31 cases of SM. Patients with GM had an increased mean age compared with those with SM (76 vs. 68 years). In addition, GMs were significantly more likely than SMs to be amelanotic (50 vs...
August 2018: Oncology Letters
Jessica M Abbate, Ettore Napoli, Francesca Arfuso, Gabriella Gaglio, Salvatore Giannetto, Lenaig Halos, Frederic Beugnet, Emanuele Brianti
BACKGROUND: Safety and efficacy of the combined monthly use of spot-on fipronil 6.76% w/v / permethrin 50.48% w/v (Frontline Tri-Act®) and chewable tablets of afoxolaner 1.9% w/w / milbemycin oxime 0.4% w/w (NexGard Spectra®) in dogs was evaluated in a field study over a period of 6 months. METHODS: Forty-one healthy dogs living in highly endemic area for canine leishmaniosis and other canine vector borne diseases (VBD) were included in the study at the beginning of the Leishmania transmission season...
July 16, 2018: Parasites & Vectors
Neeraj K Sethiya, Nasir M Ahmed, Raeesh M Shekh, Vivek Kumar, Pawan Kumar Singh, Vipin Kumar
This article explores the most recent evidence-based information on ethnomedicinal, phytochemical and pharmacological understanding of Hygrophila auriculata for the treatment of various diseases and health conditions. Various ethnomedicinal writings suggest the use of the plant or its parts for the treatment of jaundice, oedema, gastrointestinal ailments, diarrhoea, dysentery, urinogenital disorder, gall stones, urinary calculi, kidney stone, leucorrhoea, rheumatism, tuberculosis, anaemia, body pain, constipation, skin disease, and as an aphrodisiac...
July 4, 2018: Journal of Integrative Medicine
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