Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Autor: Beatriz Quintáns, J. Pardo, María-Jesús Sobrido, Berta Campos, V. Volpini, Angel Carracedo, Francisco Barros

Publikováno v: Case Reports in Neurology, Vol 3, Iss 1, Pp 86-90 (2011)
Case Reports in Neurology

Neurofibromatosis type 1 (NF1) is a multisystem disease with autosomal dominant inheritance and complete penetrance diagnosed by clinical findings. Cutaneous neurofibromas are present in almost all adult patients in the dermis, epidermis or along the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3fc93a25158d08e2086705d018b214
https://doi.org/10.1159/000327557

Subretinal Hemorrhage after Photodynamic Therapy for Juxtapapillary Retinal Capillary Hemangioma

Autor: Takayuki Baba, Masayasu Kitahashi, Mariko Kubota-Taniai, Toshiyuki Oshitari, Shuichi Yamamoto

Publikováno v: Case Reports in Ophthalmology
Case Reports in Ophthalmology, Vol 2, Iss 1, Pp 134-139 (2011)

A 75-year-old Japanese woman presented with a juxtapapillary retinal capillary hemangioma (RCH) in her left eye. Twelve months after the initial examination, the size of the hemangioma had increased and the exudation from the RCH involved the macula.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698f68d28dcff64b4f393ec6aa67d018
http://europepmc.org/articles/PMC3094579

An Adult Case of Kawasaki Disease in a Pregnant Japanese Woman: A Case Report

Autor: Hiroyuki Sakai, Hajime Iizuka, Akira Satake, Kyoko Kanno, Takayuki Konishi, Masahide Nakajima

Publikováno v: Case Reports in Dermatology, Vol 3, Iss 1, Pp 98-102 (2011)
Case Reports in Dermatology

Kawasaki disease is an acute febrile disease predominantly seen in young children. We report a case of Kawasaki disease in a 32-year-old pregnant woman. She developed a generalized erythematous skin rash accompanied by high fever. Bilateral conjuncti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a1f1c7e427d298e533dbf677d93418
http://www.karger.com/Article/FullText/327937

An Unusual Cause of Gastrointestinal Bleeding: Duodenal Lipoma

Autor: Nilukshi Wijesuriya, S.L. Preston, G.B. Bray, Raghu Kadaba, K.A. Bowers, Hemant M. Kocher

Publikováno v: Case Reports in Gastroenterology
Case Reports in Gastroenterology, Vol 5, Iss 1, Pp 183-188 (2011)

Common causes of chronic upper gastrointestinal bleeding include oesophageal varices, gastroduodenal ulcers and malignancy, and patients mostly present with iron deficiency type anaemia. We present the case of a 60-year-old lady who presented with ir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a142f930c39599b2c5c4b23f3d5eb0
http://europepmc.org/articles/PMC3088745

Systemic Thrombolytic Therapy Alone and in Combination with Mechanical Revascularization in Acute Ischemic Stroke in Two Children

Autor: N.J. Bartholdy, Grethe Andersen, Peter Vestergaard Rasmussen, B. Modrau, P. von Weitzel-Mudersbach, L. L. Sørensen

Publikováno v: Case Reports in Neurology, Vol 3, Iss 1, Pp 91-96 (2011)
Case Reports in Neurology
Modrau, B, Sørensen, L, Bartholdy, N J, Weitzel-Mudersbach, P V, Andersen, G & Rasmussen, P V 2011, ' Systemic thrombolytic therapy alone and in combination with mechanical revascularization in acute ischemic stroke in two children ', Case Reports in Neurology, vol. 3, pp. 91-6 . https://doi.org/10.1159/000327554

Thrombolytic therapy is not recommended for acute ischemic stroke (AIS) in patients under the age of 18 and published experience is limited. In this case report, we describe two children treated with systemic thrombolytic therapy. One child received

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09d834f2c8768c25e3e3d30bea3ce94
http://www.karger.com/Article/FullText/327554