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Netters Dermatologie
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Acral Lamellar Ichthyosis with Amino Acid Substitution in the C-terminus of Keratin 2
Abstract: Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype. Methods Genetic testing was performed by targeted next generation sequencing and whole-exome sequencing. For identity-by-descent analysis, the parents were genotyped and data analysis was performed with the Chromosome Analysis Suite Software. RT-PCR with RNA extracted from skin samples was used to analyse the effect of variants on splicing. Results Genetic test...
Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa
Abstract: Cutaneous squamous cell carcinoma (cSCC) is a major complication of recessive dystrophic epidermolysis bullosa (RDEB) that has high morbidity and mortality rates and unmet therapeutic needs. The aim of this study was to evaluate the molecular pattern of cSCC and the clinical course of immunotherapy in 2 RDEB patients with multiple advanced cSCC. Clinical course and disease staging were evaluated retrospectively. The tumour tissues were subjected to immunohistochemical staining. DNA from the blood and cSCC samples was subjected to massive parallel sequencing, and somatic mutations were determined. Patient 1 survived for over 2 years as disease control was achieved with cemiplimab an...
Atlas of Dermatology, Dermatopathology and Venereology
Bringing together thousands of the best dermatologic clinical and pathological photographs and figures from researchers and scientists around the world, this volume focuses on the most prevalent dermatologic disorders as they relate to cutaneous infectious and neoplastic conditions and procedural dermatology. It includes atypical presentations of various disorders, giving insight into differential diagnoses, helping to familiarize the reader with some of the rarest dermatologic disorders. Atlas of Dermatology, Dermatopathology and Venereology Volume 3 is written for dermatologists, dermatopathologists, and residents and summarizes data regarding any dermatologic disorder and syndrome. Each entry includes an introduction, clinical and pathological manifestations, diagnosis, differential diagnosis, and treatment and prognosis. div>/div/div/div
Non-neoplastic Pathology of the Gastrointestinal Tract
"Prior to the development of the first fibre-optic endoscopes in the 1960's, gastroenterology, in common with other traditional medical specialties, relied on biochemical and radiological techniques in order to investigate the gastrointestinal tract. Histological confirmation of a disease process usually required the presence of a surgeon, was invasive, and carried inherent risks. Because of a rapid improvement in technology, we are now able to sample the entire gastrointestinal tract from the mouth and anus through to the ileal / jejunal junction"--
Canine Olfaction Science and Law
The value of the canine nose is well-documented, and working dogs are being utilized for their olfactory skills in an increasing number of fields. Not only are dogs used by police, security, and the military, but they are also now used in forensic science, in medical detection of disease, in calculating population trends of endangered species and e
Neurocutaneous Disorders
Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
