scholarly journals Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report

2019 ◽  
Author(s):  
Yanzhi Cui ◽  
Yanyan Wang ◽  
Ningzhi Zhang ◽  
Jun He ◽  
Hui Huang ◽  
...  
1999 ◽  
Vol 8 (6) ◽  
pp. 359-372 ◽  
Author(s):  
Tamsen Caruso Brown ◽  
Judy Garber ◽  
Michael Muto ◽  
Katherine A. Schneider

2010 ◽  
Vol 124 (3) ◽  
pp. 857-861 ◽  
Author(s):  
Yonglan Zheng ◽  
Jing Zhang ◽  
Kisha Hope ◽  
Qun Niu ◽  
Dezheng Huo ◽  
...  

2021 ◽  
Vol 11 (11) ◽  
pp. 115-123
Author(s):  
Mousumi Das

Atopic dermatitis is a common, chronic, intensely pruritic, relapsing inflammatory skin disease that affects both children and adults. Atopic dermatitis is often the originating of a series of allergic disorders, mentioned as the "atopic march".There are numerous risk factors correlated with AD development. However, only two have always been related, and they are (1) family history of atopy and (2) loss of function mutations in the FLG gene. Topical anti-inflammatory therapy with topical corticosteroids or topical calcineurin inhibitors treatment are available in conventional therapy but sometimes it has been reported that patients are also benefited from Homoeopathic treatment. Four patients who presented at the outpatient department at National Institute of Homoeopathy, Saltlake, Kolkata with Atopic dermatitis and a family history of asthma, allergic rhinitis were treated with constitutional homoeopathic medicine. Details of consultations, treatment and assessment are summarized. A constitutional treatment thus eliminates the symptoms locally and internally as well as long-lasting relief from complaints. Common remedies include Mercuris Solubilis, Sulphur. This case series shows positive results of homoeopathy in the treatment of Atopic dermatitis. Key words: Atopic dermatitis, Family history, Individualized Homoeopathic treatment, Case series, repertorisation.


2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.


2004 ◽  
Vol 11 (1) ◽  
pp. 32-38 ◽  
Author(s):  
E E Halapy ◽  
A M Chiarelli ◽  
N Klar ◽  
J Knight

2001 ◽  
Vol 7 (3) ◽  
pp. 559-561
Author(s):  
G. Theodoulou ◽  
G. Milner ◽  
A. Jumaian

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.


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