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https://www.readbyqxmd.com/read/29037804/fluorescence-in-situ-hybridisation-as-an-ancillary-tool-in-the-diagnosis-of-acral-melanoma-a-review-of-44-cases
#1
Jing Su, Wenjuan Yu, Jianying Liu, Jie Zheng, Sixia Huang, Yuchen Wang, Shuangshuang Qi, Xiaolong Ma, Jian Chen, Yan Zhang
Acral melanoma is associated with outcomes which are more unfavourable than those of other melanoma subtypes, and acral melanoma has higher mortality. However, histological distinction of acral melanoma from acral naevi may be difficult. Fluorescence in situ hybridisation (FISH) targeting specific genes has been used as an ancillary method for differential diagnosis of melanocytic tumours, but most previous studies have focused on non-acral lesions which may have genetic alterations different from acral lesions...
October 13, 2017: Pathology
https://www.readbyqxmd.com/read/29035277/mnk1-2-inhibition-limits-oncogenicity-and-metastasis-of-kit-mutant-melanoma
#2
Yao Zhan, Jun Guo, William Yang, Christophe Goncalves, Tomasz Rzymski, Agnieszka Dreas, Eliza Żyłkiewicz, Maciej Mikulski, Krzysztof Brzózka, Aniela Golas, Yan Kong, Meng Ma, Fan Huang, Bonnie Huor, Qianyu Guo, Sabrina Daniela da Silva, Jose Torres, Yutian Cai, Ivan Topisirovic, Jie Su, Krikor Bijian, Moulay A Alaoui-Jamali, Sidong Huang, Fabrice Journe, Ghanem E Ghanem, Wilson H Miller, Sonia V Del Rincón
Melanoma can be stratified into unique subtypes based on distinct pathologies. The acral/mucosal melanoma subtype is characterized by aberrant and constitutive activation of the proto-oncogene receptor tyrosine kinase C-KIT, which drives tumorigenesis. Treatment of these melanoma patients with C-KIT inhibitors has proven challenging, prompting us to investigate the downstream effectors of the C-KIT receptor. We determined that C-KIT stimulates MAP kinase-interacting serine/threonine kinases 1 and 2 (MNK1/2), which phosphorylate eukaryotic translation initiation factor 4E (eIF4E) and render it oncogenic...
October 16, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29020893/clinical-practice-guidelines-for-the-diagnosis-and-management-of-melanoma-melanomas-that-lack-classical-clinical-features
#3
Victoria J Mar, Alex J Chamberlain, John W Kelly, William K Murray, John F Thompson
A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas...
October 16, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/28984695/primary-cutaneous-cd8-t-cell-lymphoma-an-indolent-and-locally-aggressive-form-mimicking-paronychia
#4
Sarah M Beggs, Ben J Friedman, Davida Kornreich, Lauren Okon, Onder Alpdogan, Wenyin Shi, Joya Sahu
CD8 T-cell lymphomas comprise a wide spectrum of lymphomas, many which have yet to be formally classified. We present a case of a 43-year-old woman with an enlarging tumor distal to the distal interphalangeal joint of the fourth finger, compressing the underlying nail matrix. Magnetic resonance imaging showed bony involvement of the underlying distal phalanx. Histology showed a dense epidermotropic and pandermal infiltrate composed of medium-sized, uniformly pleomorphic lymphocytes with cleaved nuclei, which raised the possibility of primary cutaneous CD8 aggressive epidermotropic cytotoxic T-cell lymphoma...
September 28, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28963390/acromegaly-with-hypophosphataemia-mccune-albright-syndrome
#5
Rimesh Pal, Pinaki Dutta, Kanchan Kumar Mukherjee, Anil Bhansali
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia...
September 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28952429/erratum-to-phytochemicals-for-the-management-of-melanoma
#6
(no author information available yet)
The original version of the review article contained citations and typo errors described below. The authors regret for these errors and apologize for any inconvenience that may have caused. PUBLISHED AS "The most common sites for occurrence of acryl lentiginous melanoma are the soles of the feet, palms and beneath the nail plates [34, 35]. Acryl lentiginous melanomas appear clinically as tan to brown black, macules and patches with irregular borders and an average size of 3 centimeters [36]." CHANGED TO "The most common sites for occurrence of acral lentiginous melanoma are the soles of the feet, palms and beneath the nail plates [34, 35]...
2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28948477/plantar-melanoma-is-associated-with-certain-poor-prognostic-histopathological-factors-but-not-correlated-with-nodal-involvement-recurrence-and-worse-survival
#7
F Tas, K Erturk
BACKGROUND: Plantar surface melanoma affects the Caucasian race less likely than it does other races, e.g., the Asians and the Blacks. So far, small numbers of researches on plantar melanoma have yielded controversial results. The aim of this study was to define the histopathological and clinical characteristics pertinent to plantar melanoma and to compare them with melanomas that emerged in other sites by using a large group of patients from a single institution. PATIENTS AND METHODS: A total of 104 Turkish Caucasian plantar melanoma patients and 1065 patients with non-plantar melanomas were analyzed retrospectively...
September 25, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28940724/acral-melanoma-foot-lesions-part-1-epidemiology-aetiology-and-molecular-pathology
#8
REVIEW
A Desai, R Ugorji, A Khachemoune
Acral melanoma (AM) is a rare subtype of cutaneous malignant melanoma (MM) found on acral skin, primarily on the soles of the feet. Although rare, it is the most common subtype of MM found in patients of African or East Asian ethnicity and has a poor prognosis, often because of the more advanced stage of presentation at diagnosis. The pathogenesis of AM is unclear, but genetic alterations, including mutations in BRAF, NRAS, and KIT have been implicated. Early diagnosis of AM is important for a better prognosis, but its identification is often challenging, leading to easy misdiagnosis...
September 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28921696/exome-sequencing-identifies-a-tcf4-mutation-in-a-chinese-pedigree-with-symmetrical-acral-keratoderma
#9
Pingjiao Chen, Silong Sun, Kang Zeng, Changxing Li, Ju Wen, Jingyao Liang, Xin Tian, Yiqi Jiang, Jing Zhang, Sanquan Zhang, Kai Han, Chunlei Han, Xibao Zhang
BACKGROUND: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVES: To investigate the inheritance and pathogenesis of SAK. METHODS: Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK related mutations, and a potentially responsible gene (Transcription factor 4, TCF4) was identified. TCF4 was then sequenced in all 11 family members and pedigree analysis was performed...
September 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#10
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#11
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28913302/eccrine-poroma-of-the-postauricular-area
#12
Hyun Rok Lee, Gyu Yong Jung, Hea Kyeong Shin, Dong Lark Lee, Jong Im Lee, Jung Hwan Kim
Eccrine poroma is a common benign cutaneous tumor that originates in an intraepidermal eccrine duct. This tumor exhibits acral distribution (sole, palm), and is rarely encountered in the head and neck area. In fact eccrine poroma in the postauricular area has only been rarely reported. A 55-year-old female visited our hospital with a main complaint of a mass that first developed in the left postauricular area about a year previously. The mass was painless, soft, protruding, domed, and dark red in color, and had slowly enlarged (at presentation it measured 1×1 cm)...
March 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28906125/imaging-of-rare-appendicular-non-acral-soft-tissue-chondromas-in-adults-with-histopathologic-correlation
#13
Mohamed Ragab Nouh, Hanan Abd El-Aziz Amr, Rola H Ali
Background Soft-tissue chondroma (STC) is a rare benign soft tissue tumor that arises primarily in acral extra-skeletal locations. Occasionally, STCs may arise in more proximal non-acral locations, accompanied by non-classic features that label them as indeterminate lesions and pose diagnostic challenge for both radiologists and pathologists alike. Purpose To explicate the potential of diagnostic imaging in the identification and characterization of appendicular non-acral STCs with emphasis on their morphologic magnetic resonance imaging (MRI) enhancement...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28898247/prevalence-of-acromegaly-in-patients-with-symptoms-of-sleep-apnea
#14
MULTICENTER STUDY
Gemma Sesmilo, Eugenia Resmini, Marcel Sambo, Concepción Blanco, Fernando Calvo, Fernando Pazos, Pablo Fernández-Catalina, Purificación Martínez de Icaya, Concepción Páramo, Carmen Fajardo, Mónica Marazuela, Cristina Álvarez-Escolá, Juan Jose Díez, Verónica Perea
Acromegaly is a rare disease with nonspecific symptoms with acral enlargement being almost universally present at diagnosis. The estimated prevalence is 40-125 cases/million but targeted universal screening studies have found a higher prevalence (about 10 fold). The aim of the ACROSAHS study was to investigate the prevalence of acromegaly and acromegaly comorbidities in patients with sleep apnea symptoms and acral enlargement. ACROSAHS was a Spanish prospective non-interventional epidemiological study in 13 Hospital sleep referral units...
2017: PloS One
https://www.readbyqxmd.com/read/28893485/-clinical-characteristics-and-course-of-hand-foot-and-mouth-disease
#15
A Mirand, H Peigue-Lafeuille
Hand, foot and mouth disease (HFMD) and herpangina (HA) are common childhood diseases mostly associated with human enteroviruses (EV). Although usually benign illnesses, neurological complications may be observed during large epidemics when enterovirus A71 (EV-A71) is involved, as observed in the Asia Pacific Region and in China since the late 1990s. The occurrence of these complications warrants reinforcing the surveillance of the emergence of EV-A71 infections in France and Europe. Monitoring EV infections associated with HFMD can be considered as an effective tool to detect an upsurge of EV-A71 infections in a timely manner...
September 8, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28890159/acral-retiform-purpura
#16
Janet Y Li, Doina Ivan, Anisha B Patel
No abstract text is available yet for this article.
September 7, 2017: Lancet
https://www.readbyqxmd.com/read/28885215/hyperspectral-imaging-as-a-novel-diagnostic-tool-in-microcirculation-of-wounds
#17
Georg Daeschlein, Inga Langner, Thomas Wild, Sebastian von Podewils, Claudia Sicher, Thomas Kiefer, Michael Jünger
Monitoring of perfusion is a cornerstone in surgery, phlebology and basic science to proof wound healing by interventions. In chronic wound management it is of utmost importance to realize and parametrize wound bed perfusion to verify actual, and plan further treatment by noninvasive diagnostics. Up to now monitoring is based on visual inspection of wounds as conventionally practiced over more than decades. The main problems of visual inspection are the lack of standardization and comparability because of interindividual variations...
September 4, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28875289/-diagnostics-of-malignant-melanoma-of-the-skin-recommendations-of-the-current-s3-guidelines-on-histology-and-molecular-pathology
#18
C Rose
The updated S3 guidelines on malignant melanoma were established in August 2016. The principles of diagnostics and classification are based on the histopathological results from the primary tumor and if necessary the sentinel lymph nodes. The most important factor for prognosis is the tumor thickness according to Breslow and the detection of sentinel node micrometastases. The surgical safety margin after excision is dependent on the tumor thickness. Furthermore, ulceration of the primary tumor and presence of mitosis in melanomas less than 1 mm in thickness are also considered in the T‑classification...
September 5, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28870692/distinct-patterns-of-acral-melanoma-based-on-site-and-relative-sun-exposure
#19
Alexandra M Haugh, Bin Zhang, Victor L Quan, Erin M Garfield, Jeffrey A Bubley, Emily Kudalkar, Anna Elisa Verzi, Kara Walton, Timothy VandenBoom, Emily A Merkel, Christina Y Lee, Timothy Tan, Maria Cristina Isales, Betty Y Kong, Alexander T Wenzel, Christopher G Bunick, Jaehyuk Choi, Jeffrey Sosman, Pedram Gerami
Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n=21), volar (n=9), and subungual/interdigital (n=13) acral skin as well as acral nevi (n=24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared to volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (p=...
September 1, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28869415/a-novel-iloprost-administration-method-with-portable-syringe-pump-for-the-treatment-of-acral-ulcers-and-raynaud-s-phenomenon-in-systemic-sclerosis-patients-a-pilot-study-iloporta
#20
Paolo Fraticelli, Giuseppe Pio Martino, Marta Murri, Massimo Mattioli, Armando Gabrielli
OBJECTIVES: The objective of the study is to evaluate the feasibility, safety and efficacy of home infusion of iloprost with the new portable syringe pump Infonde®, for the treatment of scleroderma-related Raynaud's phenomenon and digital ulcers. METHODS: 12 scleroderma patients were treated with iloprost at home, using the pump, with infusion cycles of 2 days per month (24 hours a day), for 6 months. RESULTS: The home treatment proved feasible since ten patients (83%) completed the entire infusion cycle, thus satisfying the feasibility target imposed by the protocol (75%)...
August 31, 2017: Clinical and Experimental Rheumatology
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