scholarly journals Anal adenocarcinoma: Treatment outcomes and trends in a rare disease entity

2019 ◽  
Vol 8 (8) ◽  
pp. 3855-3863
Author(s):  
Rodney E. Wegner ◽  
Richard J. White ◽  
Shaakir Hasan ◽  
Moses Raj ◽  
Dulabh Monga ◽  
...  
Keyword(s):  
Treatment Outcomes ◽  
Rare Disease ◽  
Disease Entity ◽  
Anal Adenocarcinoma

scholarly journals Sinonasal mucosal melanoma: treatment strategies and survival rates for a rare disease entity

2021 ◽  
Author(s):  
Alexandros Andrianakis ◽  
Peter Kiss ◽  
Markus Pomberger ◽  
Axel Wolf ◽  
Dietmar Thurnher ◽  
...  
Keyword(s):  
Rare Disease ◽  
Survival Data ◽  
Survival Rates ◽  
Delayed Diagnosis ◽  
Distant Metastases ◽  
Primary Treatment ◽  
Mucosal Melanoma ◽  
Disease Entity ◽  
Improve Outcome ◽  
Initial Symptoms

Summary Background Sinonasal mucosal melanoma (SNMM) is a rare disease entity comprising 0.4–1.3% of all melanomas. Surgery with free margins has been the primary treatment over decades. Neither the addition of radiotherapy nor chemotherapy could significantly improve outcome rates of this devastating malignancy. This study presents our clinical experience with SNMM over a 19-year period and summarizes the current body of literature on SNMM. Methods This retrospective analysis included 12 patients with SNMM treated from 2001 to 2019 at an academic center. Additionally, a literature review of the last 29 years on treatment and survival data of SNMM was conducted. Results Main initial symptoms were epistaxis and nasal obstruction. Of the patients 9 underwent endoscopic surgery, 6 received adjuvant therapy. 3 patients who did not undergo surgery, received chemoradiotherapy, radiotherapy alone, and chemotherapy alone, respectively. At the time of diagnosis 2 patients had distant metastases and 4 patients developed distant metastases during the course of the disease. Mean overall survival (OS) was 30.6 months, 3‑year and 5‑year OS were 25%, and 18.2%, respectively. Conclusion Unspecific symptoms and hidden anatomic locations lead to delayed diagnosis and increased rates of metastatic dissemination. Distant metastasis is the main treatment failure in SNMM. Surgery with free margins remains the primary treatment for SNMM. Adjuvant radiotherapy might improve local control in individual cases but efficient systemic therapy is needed to improve outcome rates. To evaluate and define more effective targeted treatment options and improve outcome rates, homogeneous data and prospective multicentric analysis are needed.

scholarly journals Vascular rings and slings: A challenging diagnostic and therapeutic rare disease entity

2017 ◽  
Vol 25 (4) ◽  
pp. 349-355
Author(s):  
Yasser Mohamed Menaissy ◽  
Mohamed –Adel Fetouh Elgamal ◽  
Samy Amin ◽  
Ahmed Fayez Zaki
Keyword(s):  
Rare Disease ◽  
Disease Entity ◽  
Vascular Rings

Nitroprusside Treatment of Erythromelalgia in an Adolescent Female

1997 ◽  
Vol 31 (5) ◽  
pp. 590-592 ◽  
Author(s):  
Jonathan D Stone ◽  
Michael P Rivey ◽  
Douglas R Allington
Keyword(s):  
Rare Disease ◽  
Pediatric Patients ◽  
Aspirin Therapy ◽  
Adolescent Female ◽  
Adolescent Patient ◽  
Disease Entity ◽  
Case Summary ◽  
First Choice

OBJECTIVE: TO report a case of erythromelalgia in an adolescent patient successfully treated with nitroprusside. CASE SUMMARY: A 15-year-old girl with erythromelalgia resistant to aspirin therapy received an infusion of nitroprusside. The response of the erythromelalgia to nitroprusside was dramatic, with complete pain resolution within 17 hours after the start of therapy. No relapse of erythromelalgia was seen when nitroprusside was discontinued and the patient remained well after 6 months. DISCUSSION: This case adds to existing literature substantiating the benefit of nitroprusside for the treatment of erythromelalgia in pediatric patients. Erythromelalgia in children may represent a different disease entity than that seen in adults, which is commonly responsive to aspirin therapy. The pathogenesis of erythromelalgia is unclear and precludes formulating a proposed mechanism by which nitroprusside has benefit in children. CONCLUSIONS: Nitroprusside is valuable for erythromelalgia resistant to aspirin therapy in pediatric patients. Because of unanswered questions regarding the disease, aspirin remains the agent of first choice in all patients with this rare disease.

scholarly journals Abdominal cocoon syndrome, a case report of a rare disease entity causing intestinal obstruction

2021 ◽  
Vol 87 ◽  
pp. 106401
Author(s):  
Farah Mohammed ◽  
Mohamed Abdulkarim ◽  
Ammar Ibn Yasir ◽  
Osman Taleballah ◽  
Dafalla Shani ◽  
...  
Keyword(s):  
Case Report ◽  
Intestinal Obstruction ◽  
Rare Disease ◽  
Disease Entity ◽  
Abdominal Cocoon

scholarly journals Pleuroparenchymal fibroelastosis from a consecutive database: a rare disease entity?

2015 ◽  
Vol 45 (4) ◽  
pp. 1183-1186 ◽  
Author(s):  
Takeshi Nakatani ◽  
Toru Arai ◽  
Masanori Kitaichi ◽  
Masanori Akira ◽  
Kazunobu Tachibana ◽  
...  
Keyword(s):  
Rare Disease ◽  
Disease Entity ◽  
Pleuroparenchymal Fibroelastosis

scholarly journals Alternaria alternata infection associated osteomyelitis of maxilla: A rare disease entity

2013 ◽  
Vol 24 (5) ◽  
pp. 639 ◽  
Author(s):  
Sanjay Rastogi ◽  
Madhumita Barua ◽  
Sanjeev Kumar ◽  
Vidhi Chhabra
Keyword(s):  
Rare Disease ◽  
Alternaria Alternata ◽  
Disease Entity

Idiopathic Granulomatous Mastitis: In Search of a Therapeutic Paradigm

2007 ◽  
Vol 73 (8) ◽  
pp. 798-802 ◽  
Author(s):  
Jason P. Wilson ◽  
Nicole Massoll ◽  
Julia Marshall ◽  
Robin M. Foss ◽  
Edward M. Copeland ◽  
...  
Keyword(s):  
Treatment Outcomes ◽  
Rare Disease ◽  
Breast Lesion ◽  
Management Strategies ◽  
Partial Mastectomy ◽  
Granulomatous Mastitis ◽  
Success Rates ◽  
Benign Breast Lesion ◽  
Idiopathic Granulomatous Mastitis ◽  
Primary Management

Idiopathic granulomatous mastitis, also known as idiopathic granulomatous lobular mastitis, is a benign breast lesion that represents both a diagnostic and therapeutic dilemma. We report two cases of granulomatous mastitis recently evaluated and managed at our institution. To better understand this rare disease, we analyzed treatment outcomes in reported cases of granulomatous mastitis. One hundred sixteen cases were subsequently analyzed. Primary management strategies included observation (n = 9), steroids (n = 29), partial mastectomy (n = 75), and mastectomy (n = 3). Success rates with each treatment were observation, 56 per cent; steroids, 42 per cent; partial mastectomy, 79 per cent; and mastectomy, 100 per cent. Based on this analysis, we propose a clinically useful algorithm for both workup and management of these challenging cases.

Bilateral Congenital Adrenal Agenesis: A Rare Disease Entity and Not a Result of Poor Autopsy Technique

2014 ◽  
Vol 17 (4) ◽  
pp. 308-311
Author(s):  
Colleen D'Arcy ◽  
Mark Pertile ◽  
Tess Goodwin ◽  
Sophie Bittinger
Keyword(s):  
Rare Disease ◽  
Disease Entity

scholarly journals Inguinal canal angioleiomyoma: case report of a rare disease entity within inguinal canal

2017 ◽  
Vol 10 (1) ◽  
Author(s):  
Jianwen Liu ◽  
Rockson Wei ◽  
Xuefei Yang ◽  
Xinping Shen ◽  
Jing Guan ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Inguinal Canal ◽  
Disease Entity
Sign in / Sign up

Export Citation Format

Share Document