Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation—Case reports and review of the literature

2020 ◽  
Vol 13 (1) ◽  
pp. 19-32
Author(s):  
Binbin He ◽  
Xia Li ◽  
Zhiguang Zhou
Keyword(s):  
Continuous Spectrum ◽  
Gene Mutation ◽  
Case Reports ◽  
Review Of The Literature ◽  
Kcnj11 Gene

Testosterone and Breast Cancer in Transmen: Case Reports, Review of the Literature, and Clinical Observation

2019 ◽  
Vol 19 (2) ◽  
pp. e271-e275 ◽  
Author(s):  
Sara Tanini ◽  
Alessandra D. Fisher ◽  
Icro Meattini ◽  
Simonetta Bianchi ◽  
Jiska Ristori ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Clinical Observation ◽  
Case Reports ◽  
Review Of The Literature

Prenatal diagnosis of fibular aplasia‐tibial campomelia‐oligosyndactyly syndrome: Two case reports and review of the literature

2020 ◽  
Author(s):  
Márcia Marinho ◽  
Sara Nunes ◽  
Cátia Lourenço ◽  
Mónica Melo ◽  
Cristina Godinho ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Case Reports ◽  
Review Of The Literature

scholarly journals Therapeutic Management of Rare Primary Ovarian Neoplasms: Carcinosarcoma, Leiomyosarcoma, Melanoma and Carcinoid

2021 ◽  
Vol 18 (15) ◽  
pp. 7819
Author(s):  
Mateusz Kozłowski ◽  
Katarzyna Nowak ◽  
Agnieszka Kordek ◽  
Aneta Cymbaluk-Płoska
Keyword(s):  
Clinical Case ◽  
Ovarian Neoplasms ◽  
Treatment Guidelines ◽  
Case Reports ◽  
Review Of The Literature ◽  
Pharmacological Treatments ◽  
International Database ◽  
Primary Tumors ◽  
Fertility Sparing ◽  
Oncological Centers

Carcinosarcoma, leiomyosarcoma, melanoma and carcinoid as primary tumors in the ovary are extremely rare. In this paper, the authors reviewed the literature from 2010 to 2021, based on specific criteria, to analyze the treatment of these rare ovarian neoplasms. We also aimed to verify whether modern therapies have been found in recent years. For this article, 80 papers were finally selected. The vast majority of the articles were clinical case reports. Despite single mentions of new potential pharmacological treatments, surgery (radical or fertility-sparing) is definitely the mainstay of treatment. There are currently no treatment guidelines for these tumors. A review of the literature has revealed the use of various adjuvant treatments. We, therefore, believe that a more detailed understanding of the biology of these tumors is necessary in order to find new target points for treatment. We would like to emphasize the importance of creating an international database of rare ovarian tumors which would make it possible to gather data from various oncological centers and enable further research into these neoplasms.

scholarly journals Supraclavicular lymph node metastases from distant primary tumors: Case reports and review of the literature

2021 ◽  
Vol 81 ◽  
pp. 105720
Author(s):  
Youssef Oukessou ◽  
Yassir Hammouda ◽  
Khadija El Bouhmadi ◽  
Redallah Larbi Abada ◽  
Mohamed Roubal ◽  
...  
Keyword(s):  
Lymph Node ◽  
Lymph Node Metastases ◽  
Case Reports ◽  
Review Of The Literature ◽  
Supraclavicular Lymph Node ◽  
Primary Tumors ◽  
Node Metastases

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Unilateral Multicystic Dysplasia in 1 Component of a Horseshoe Kidney: Case Reports and Review of the Literature

1994 ◽  
Vol 152 (5 Part 1) ◽  
pp. 1568-1571 ◽  
Author(s):  
Joseph G. Borer ◽  
Kenneth I. Glassberg ◽  
E. George Kassner ◽  
David A. Schulsinger ◽  
Unni M.M. Mooppan
Keyword(s):  
Case Reports ◽  
Horseshoe Kidney ◽  
Review Of The Literature ◽  
Multicystic Dysplasia

scholarly journals Schnitzler's Syndrome: Two Case Reports and Review of the Literature

1995 ◽  
Vol 70 (6) ◽  
pp. 570-572 ◽  
Author(s):  
Vincent Baty ◽  
Bruno Hoen ◽  
Hervé Hudziak ◽  
Catherine Aghassian ◽  
Claude Jeandel ◽  
...  
Keyword(s):  
Case Reports ◽  
Review Of The Literature ◽  
Schnitzler’S Syndrome

Features of groove pancreatitis in clinical assessment and imaging methods — Case reports and review of the literature

2000 ◽  
Vol 118 (4) ◽  
pp. A1150-A1151
Author(s):  
Wolfgang Mohl ◽  
Markus Menges ◽  
Cornelius Moser ◽  
Gemot Feifel ◽  
Bernhard Kramann ◽  
...  
Keyword(s):  
Clinical Assessment ◽  
Case Reports ◽  
Review Of The Literature ◽  
Imaging Methods ◽  
Groove Pancreatitis
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