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https://www.readbyqxmd.com/read/28109651/late-onset-krabbe-disease-due-to-the-new-galc-p-ala543pro-mutation-with-intriguingly-high-residual-galc-activity-in%C3%A2-vitro
#1
Inge Krägeloh-Mann, Klaus Harzer, Kevin Rostásy, Stefanie Beck-Wödl, Antje Bornemann, Judith Böhringer, Andrea Bevot, Verena Beck, Gisela Merkel, Maria Pechan
BACKGROUND: Krabbe disease (KD) is an inherited leukodystrophy due to a defect in the GALC gene which encodes the lysosomal galactosylceramide β-galactosidase (GALC). About two thirds of patients show the early onset form of KD dominated by cerebral demyelination leading to death in early infancy. Late onset forms include a spectrum of late infantile, juvenile and adult clinical courses. The deficiency of GALC leads to a galactosylceramide lipidosis in which lysosomal storage phenomena are seen almost only at the ultrastructural level...
January 6, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28109548/comparison-between-high-frequency-ultrasonography-and-histological-assessment-reveals-weak-correlation-for-measurements-of-scar-tissue-thickness
#2
Natacha A Agabalyan, Samuel Su, Sarthak Sinha, Vincent Gabriel
OBJECTIVE: Current methods for evaluating scar tissue volume following burns have shortcomings. The Vancouver Burn Scar scale is subjective, leading to a high variability in assessment. Although histological assessment via punch biopsy can discriminate between the different layers of skin, such an approach is invasive, inefficient, and detrimental to patient experience and wound healing. This study investigates the accuracy of high-frequency ultrasonography, a non-invasive alternative to histology, for measuring dermal and epidermal thickness in scar tissue...
January 18, 2017: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/28109429/body-fluid-degradomics-and-characterization-of-basic-n-terminome
#3
F Sabino, O Hermes, U Auf dem Keller
Rapid improvements in instrumentation and data analysis make mass spectrometry-based proteomics the method of choice for global characterization of proteomes and discovery of protein-based biomarkers. On the contrary to tissue biopsies, body fluids-e.g., blood, wound fluid, urine, and saliva-are noninvasive and easy to collect and process. However, they are very complex and present high dynamic ranges of protein concentrations, rendering direct shotgun proteomics analysis as inefficient for identification of low-abundance proteins in these specimens...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28106273/the-immunoglobulin-superfamily-member-cd200r-identifies-cells-involved-in-type-2-immune-responses
#4
Lars H Blom, Britta C Martel, Lau F Larsen, Camilla V Hansen, Malene P Christensen, Nanna Juel-Berg, Thomas Litman, Lars K Poulsen
BACKGROUND: The pathology of allergic diseases involves type 2 immune cells, such as Th2, ILC2, and basophils exerting their effect by production of IL-4, IL-5, and IL-13. However, surface receptors that are specifically expressed on type 2 immune cells are less well documented. The aim of this investigation was to identify surface markers associated with type 2 inflammation. METHODS: Naïve human CD4(+) T-cells were short-term activated in the presence or absence of IL-4, and analysed for expression of >300 cell-surface proteins...
January 20, 2017: Allergy
https://www.readbyqxmd.com/read/28102840/cancer-associated-fibroblasts-enact-field-cancerization-by-promoting-extratumoral-oxidative-stress
#5
Jeremy Soon Kiat Chan, Ming Jie Tan, Ming Keat Sng, Ziqiang Teo, Terri Phua, Chee Chong Choo, Liang Li, Pengcheng Zhu, Nguan Soon Tan
Histological inspection of visually normal tissue adjacent to neoplastic lesions often reveals multiple foci of cellular abnormalities. This suggests the presence of a regional carcinogenic signal that spreads oncogenic transformation and field cancerization. We observed an abundance of mutagenic reactive oxygen species in the stroma of cryosectioned patient tumor biopsies, indicative of extratumoral oxidative stress. Diffusible hydrogen peroxide (H2O2) was elevated in the conditioned medium of cultured skin epithelia at various stages of oncogenic transformation, and H2O2 production increased with greater tumor-forming and metastatic capacity of the studied cell lines...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28102816/clinicopathological-features-diagnosis-and-treatment-of-iga-nephropathy-with-minimal-change-disease-related-to-exposure-to-mercury-containing-cosmetics-a-case-report%C3%A2
#6
Hong-Xin Niu, Shen-Heng Li, Hong-Ying Li, Yi-Hua Chen, Wei-Wei Liu, Pei-Lin Li, Hai-Bo Long
AIM: Membranous nephropathy and minimal change disease (MCD) have been involved in mercury-induced nephrotic syndrome. IgA nephropathy is not known to be a common pathological type. In the present article, we report a case of IgA nephropathy with MCD following exposure to mercury-containing skin lightening cream. MATERIAL AND METHODS: The patient was a 39-year-old woman who presented with nephrotic syndrome. She had a 6-month history of using as many as 8 kinds of skin-lightening creams, and urinary mercury excretion was high...
January 19, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28101024/bazex-syndrome-in-lung-squamous-cell-carcinoma-high-expression-of-epidermal-growth-factor-receptor-in-lesional-keratinocytes-with-th2-immune-shift
#7
Maki Amano, Takaaki Hanafusa, Sakiko Chikazawa, Makiko Ueno, Takeshi Namiki, Ken Igawa, Keiko Miura, Hiroo Yokozeki
An 82-year-old Japanese man was referred for detailed examination of hyperkeratotic erythematous plaques on his palms and soles for 6 months. Two weeks before his first visit, he had undergone lung lobectomy for right lung squamous cell carcinoma (SCC). Laboratory findings showed elevations of eosinophil counts, serum IgE, thymus and activation-regulated chemokine, SCC antigen, and soluble interleukin-2 receptor levels. Histological results of a skin biopsy involving the left palm showed psoriasiform dermatitis...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28101022/necrobiotic-xanthogranuloma-in-a-patient-with-multiple-myeloma
#8
Marlies Wruhs, Robert Feldmann, Isabelle Sawetz, Friedrich Breier, Andreas Steiner
An 82-year-old woman presented with a 9-month history of multiple, well-defined skin lesions on her neck and upper chest, progressively increasing in size. Histological examination of a skin biopsy showed a regular epidermis. In the dermis, granulomatous changes with central necrobiosis were found which extended focally into the subcutaneous fat. The necrobiotic areas were surrounded by Touton cells and foreign-body giant cells. Laboratory analysis revealed leucopenia. Serum electrophoresis and immunofixation disclosed the presence of an IgG-λ paraprotein...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28100575/atrophic-pityriasis-versicolor-occurring-in-a-patient-with-sj%C3%A3-gren-s-syndrome
#9
Elena Marinello, Stefano Piaserico, Mauro Alaibac
Pityriasis versicolor is one of the most frequent epidermal mycotic infections in the world, but its atrophic variant is rarely described. The aetiology of the atrophy is still unknown, and two main hypotheses have been formulated, one suggesting a correlation with long-term use of topical steroids and the other a delayed type hypersensitivity to epicutaneous antigens derived from components of the fungus. Atrophic pityriasis versicolor is a benign disease, but needs to be distinguished from other more severe skin diseases manifesting with cutaneous atrophy...
January 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28099963/low-molecular-weight-hydrophilic-and-lipophilic-antioxidants-in-nonmelanoma-skin-carcinomas-and-adjacent-normal-looking-skin
#10
Konstantina Grammenandi, Maria Kyriazi, Alexandra Katsarou-Katsari, Othon Papadopoulos, Ioanna Anastassopoulou, Georgios T Papaioannou, Alexandros Sagriotis, Michail Rallis, Howard I Maibach
Low-molecular-weight antioxidants are some of the most efficient agents of the skin defense mechanism against environmental factors, such as cosmic rays, smoke, and pollutants. The total skin concentrations of hydrophilic ascorbic and uric acids, as well as lipophilic α-tocopherol, β-carotene, and ubiquinol-10 antioxidants were determined by an HPLC-EC detector from 18 biopsies of human nonmelanoma skin carcinomas and 18 biopsies from skin areas adjacent to carcinomas. No significant differences in the concentrations of lipophilic antioxidants in both carcinomas and normal-looking skin areas adjacent to carcinomas were observed...
January 19, 2017: Skin Pharmacology and Physiology
https://www.readbyqxmd.com/read/28099611/norwegian-scabies-rare-case-of-atypical-manifestation
#11
Karina Corrêa Ebrahim, Júlia Barazetti Alves, Lísias de Araújo Tomé, Carlos Floriano de Moraes, Arianne Ditzel Gaspar, Karin Fernanda Franck, Mohamad Ali Hussein, Lucas Raiser da Cruz, Leonardo Duque Ebrahim, Luis Felipe de Oliveira Sidney
Human scabies affects all social classes and different races around the world. It is highly contagious, but the exact figures on its prevalence are unknown. A 19-year-old male patient was admitted to the emergency room reporting fever (38°C) and multiple lesions throughout the body, except face, soles, and palms. Lesions were non-pruritic, which hampered the initial diagnostic suspicion. Skin biopsy was performed, and the final diagnosis was crusted scabies (Norwegian). It was concluded that human scabies is a significant epidemic disease, due to its different clinical manifestations, and because it is extremely contagious...
November 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28099531/sarcoidosis-and-squamous-cell-carcinoma-a-connection-documented-in-a-case-series-of-3-patients
#12
Sara A Berg, Roberto A Novoa, Campbell Stewart, Joseph F Sobanko, Christopher J Miller, Misha Rosenbach
Sarcoidosis is a chronic multisystem disease characterized by the formation of noncaseating granulomas in multiple organs, including the skin. An association between multisystem sarcoidosis and an increased risk for malignancy has been established. Dermatologists should be aware of the increased risk for nonmelanoma skin cancers in patients with sarcoidosis. We report a series of 3 patients with primarily cutaneous sarcoidosis who presented with new-onset cutaneous squamous cell carcinoma (SCC). Two patients were black women and 1 patient presented with lesions of cutaneous sarcoidosis arising concurrently with SCCs in the same location, distinguishable only by biopsy...
December 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28098564/male-breast-cancer-originating-in-an-ectopic-breast-tissue-in-the-umbilicus-a-case-report
#13
Nikolaos Kopanakis, Olympia Tzaida, Georgios Nikolaou, Dimitrios Ermidis, Vassiliki Manou, Elias Efstathiou, John Spiliotis
INTRODUCTION: Accessory breast tissue is a rare finding in the general population with an incidence of 1-2%. Carcinomas of accessory breast tissue account for ∼0.3% of breast cancers, 5% of which are arising within a supernumerary breast. They are usually diagnosed at a later stage compared with breast cancer, due to their rarity and low clinical suspicion. CASE PRESENTATION: We present the case of a 58 years old male who was admitted to our hospital for an umbilical hernia, surgical repair...
November 4, 2016: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28097385/two-phase-1-dose-escalation-studies-exploring-multiple-regimens-of-litronesib-ly2523355-an-eg5-inhibitor-in-patients-with-advanced-cancer
#14
Jeffrey R Infante, Amita Patnaik, Claire F Verschraegen, Anthony J Olszanski, Montaser Shaheen, Howard A Burris, Anthony W Tolcher, Kyriakos P Papadopoulos, Muralidhar Beeram, Scott M Hynes, Jennifer Leohr, Aimee Bence Lin, Lily Q Li, Anna McGlothlin, Daphne L Farrington, Eric H Westin, Roger B Cohen
PURPOSE: This first-in-human report examined the recommended Phase 2 dose and schedule of litronesib, a selective allosteric kinesin Eg5 inhibitor. METHODS: Two concurrent dose-escalation studies investigated litronesib across the dose range of 0.125-16 mg/m(2)/day, evaluating the following schedules of administration on a 21-day cycle: Days 1, 2, 3; Days 1, 5, 9; Days 1, 8; Days 1, 5; or Days 1, 4, with or without pegfilgrastim. Best overall response was defined per Response Evaluation Criteria in Solid Tumors (RECIST Version 1...
January 17, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28096866/disseminated-strongyloidiasis-in-an-iranian-immunocompromised-patient-a-case-report
#15
Narges Najafi, Eissa Soleymani, Shahabeddin Sarvi, Amirkeivan Marofi, Anahita Nosrati, Alireza Davoodi
Strongyloides stercoralis is a soil-transmitted helminth (STH) widespread in various part of the world. A 78-yr-old peasant diabetic female from Mazandaran Province northern Iran, was admitted to Infection Department of the Razi Hospital in city of Qaemshahr, north of Iran complaining about abdominal skin rash, pruritus, itching, anorexia, nausea, vomiting, dysuria and cough. This patient had cutaneous migration effects of S. stercoralis larvae in her abdominal skin (larva currents and urticaria). Lung CT without contrast demonstrate s bilateral diffuse ground glass opacity draws attention...
April 2016: Iranian Journal of Parasitology
https://www.readbyqxmd.com/read/28095536/improved-neocollagenesis-and-skin-mechanical-properties-after-injection-of-diluted-calcium-hydroxylapatite-in-the-neck-and-de%C3%AC-colletage-a-pilot-study
#16
Yana Alexandrovna Yutskovskaya, Evgeniya Alexandrovna Kogan
BACKGROUND: Calcium hydroxylapatite (CaHA; Radiesse (R)) provides safe and effective correction of moderate-to-deep lines, volume replacement, lift and contour, and induction of neocollagenesis and neoelastogenesis for improved skin quality. CaHA hyperdilution takes advantage of its skin-tightening properties without a volumizing effect. OBJECTIVE: To evaluate the collagen- and elastin-stimulating effects of diluted CaHA in subjects with skin laxity in the neck and décolletage...
January 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28094886/the-parathyroid-hormone-family-member-tip39-interacts-with-sarco-endoplasmic-reticulum-ca-2-atpase-activity-by-influencing-calcium-homeostasis
#17
Emi Sato, Michael R Williams, James A Sanford, George L Sen, Takekuni Nakama, Shinichi Imafuku, Richard L Gallo
Darier disease (DD) is a genetic skin disease that is associated with mutations in the ATP2A2 gene encoding the type 2 sarco/endoplasmic reticulum Ca(2+) -ATPase (SERCA2). Mutations of this gene result in alterations of calcium homeostasis, abnormal epidermal adhesion and dyskeratosis. Silencing of ATP2A2 in monolayer cell culture of keratinocytes reduces desmoplakin expression at the borders of cells and impacts cell adhesion. Here, we report establishment of a three-dimensional (3D) epidermal model of DD, and use this model to evaluate peptide therapy with tuberoinfundibular peptide of 39 residues (TIP39) to normalize calcium transport...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28094160/a-case-of-generalized-lymphatic-anomaly-causing-skull-base-leakage-and-bacterial-meningitis
#18
Kenichi Suga, Aya Goji, Miki Inoue, Masami Kawahito, Masako Taki, Kazuhiro Mori
Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly had been diagnosed by pericardial biopsy. Petrous bone tumor had been followed up without surgery. At the age of seven he presented with fever and disturbance of consciousness, and bacterial meningitis due to Streptococcus pneumoniae was diagnosed...
January 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28091390/demodex-spp-infestation-associated-with-treatment-resistant-chalazia-and-folliculitis
#19
Ulviye Güvendi Akçınar, Emine Ünal, Metin Akpınar
Demodecidosis is an ectoparasitosis of pilosebaceous unit caused by demodex mites. The disease may be a primary skin disease or a secondary disease to inflammatory dermatoses such as folliculitis and rosacea. Demodex spp. blepharitis is an infectious ocular disease that is common but always neglected. These mites contain lipase enzymes that help carry bacteria on the surface. The infestation of Demodex spp. has increasingly become a public health concern. A 29-year-old male patient was admitted to our dermatology clinic with a complaint of papules and pustules on his face, which started 4 years ago...
December 2016: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/28090290/shared-gene-expression-patterns-in-mesenchymal-progenitors-derived-from-lung-and-epidermis-in-pulmonary-arterial-hypertension-identifying-key-pathways-in-pulmonary-vascular-disease
#20
Christa Gaskill, Shennea Marriott, Sidd Pratap, Swapna Menon, Lora K Hedges, Joshua P Fessel, Jonathan A Kropski, DeWayne Ames, Lisa Wheeler, James E Loyd, Anna R Hemnes, Dennis R Roop, Dwight J Klemm, Eric D Austin, Susan M Majka
Rapid access to lung-derived cells from stable subjects is a major challenge in the pulmonary hypertension field, given the relative contraindication of lung biopsy. In these studies, we sought to demonstrate the importance of evaluating a cell type that actively participates in disease processes, as well as the potential to translate these findings to vascular beds in other nonlung tissues, in this instance perivascular skin mesenchymal cells (MCs). We utilized posttransplant or autopsy lung explant-derived cells (ABCG2-expressing mesenchymal progenitor cells [MPCs], fibroblasts) and skin-derived MCs to test the hypothesis that perivascular ABCG2 MPCs derived from pulmonary arterial hypertension (PAH) patient lung and skin would express a gene profile reflective of ongoing vascular dysfunction...
December 2016: Pulmonary Circulation
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