A novel case of Silver Russell Syndrome (SRS) and male breast cancer

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21178-21178
Author(s):  
C. M. Hamm ◽  
L. Jagiello
Keyword(s):  
Breast Cancer ◽  
Brca2 Gene ◽  
Metastatic Breast ◽  
Brca1 Gene ◽  
Abdominal Ultrasound ◽  
Significant Family History ◽  
History Of ◽  
Asymmetric Growth ◽  
The Right ◽  
The Relationship

21178 Introduction: Silver Russell Syndome (SRS) is a heterogeneous disorder of asymmetric growth retardation and typical dysmorphic features often associated with maternal disomy 7 and chromosome 17q23–24. The BRCA1 gene is found on 17q21. The relationship between SRS and breast cancer has not been described to date. Case Presentation: We report a case of a 37 year old male diagnosed with metastatic breast cancer involving the liver and bone. Patient presented with a left proximal hip fracture related to metastatic bone disease. Biopsy of the right breast lesion revealed a moderately differentiated adenocarcinoma consistent with breast primary. Abdominal ultrasound and full body bone scan revealed extensive liver and bone metastases. There was no significant family history of cancer, specifically breast nor ovarian cancer. Discussion: The BRCA2 gene is known to be responsible for DNA repair. The SRS cases associated with chromosome 17q24–25 abnormalities are known to be associated with growth hormone deletions. Further investigations into this relationship are warranted. No significant financial relationships to disclose.

TMJ pain as a presentation of metastatic breast cancer to the right mandibular condyle

2021 ◽  
Vol 14 (3) ◽  
pp. e241601
Author(s):  
Victor Ken On Chang ◽  
Samuel Thambar
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Head And Neck ◽  
Cancer Metastasis ◽  
Mandibular Condyle ◽  
Metastatic Breast ◽  
Neck Region ◽  
Head And Neck Region ◽  
History Of ◽  
The Right

Cancer metastasis to the oral and maxillofacial region is uncommon, and metastasis to the mandibular condyle is considered rare. We present a case of a 56-year-old woman with a history of invasive ductal cell carcinoma of the right breast, 10 years in remission, presenting with a 6-month history of symptoms typical of temporomandibular joint (TMJ) dysfunction. Imaging revealed an osteolytic lesion of her right TMJ and subsequent open biopsy confirmed the diagnosis of metastatic breast cancer. Despite the rarity of metastatic cancer to the head and neck region, it is still important for clinicians from both medical and dental backgrounds to consider this differential diagnosis, particularly in patients with a history of hormonal positive subtype of breast cancer. Given that bony metastasis can manifest even 10 years after initial diagnosis, surveillance which includes examination of the head and neck region is important, and may include routine plain-film imaging surveillance with an orthopantomogram (OPG).

Contribution of BRCA1 and BRCA2 mutations to breast cancer in Tunisia

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22191-e22191
Author(s):  
T. Wafa
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Hereditary Breast Cancer ◽  
Brca2 Mutation ◽  
Brca2 Gene ◽  
Brca1 Gene ◽  
Deleterious Mutations ◽  
Brca1 And Brca2 ◽  
Frameshift Mutations ◽  
History Of

e22191 Background: Hereditary breast cancer accounts for 3–8% of all breast cancers. It was recently estimated that a combination of BRCA1 and BRCA2 genes mutations is responsible for 30% of hereditary breast cancer cases. Methods: To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, 36 patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. Thirty three patients are suggestive of BRCA1 mutation and 3 are suggestive of BRCA2 mutation. Results: Four mutations in BRCA1 gene were described among which, one novel splice site mutation (330 dupA) and 3 frameshift mutations including the 4160 delAG, the 2789 delG and the 5385 insC. Our study is the first to describe the 5385 insC mutation which was described only among Jewish Ashkenazi population. Two frameshift mutations (1537 del4 and 5909 insA) were screened in BRCA2 gene. Nineteen percent (7/36) of the familial cases were altered on BRCA1 or BRCA2 genes with deleterious mutations at heterozygous state and 55% (20/36) by mutation with uncertain value (UV) or by single nucleotide polymorphisms (SNPs). Conclusions: Almost all the cases mutated by deleterious mutations on BRCA1 gene reported a family history of breast and/or ovarian cancer in the index case or in their relatives. On the contrary, patients with an UV mutation or SNPs have no history of ovarian cancer in their corresponding families. Our data are the first to contribute to information on mutation spectrum of BRCA genes and offer a recommended screening mode for clinical genetic testing policy in Tunisia. No significant financial relationships to disclose.

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals Antiphospholipid Antibody Syndrome Presenting with Hemichorea

2012 ◽  
Vol 2012 ◽  
pp. 1-2 ◽  
Author(s):  
Yezenash Ayalew ◽  
Fazlihakim Khattak
Keyword(s):  
First Trimester ◽  
Anticardiolipin Antibodies ◽  
Antiphospholipid Antibody ◽  
Antiphospholipid Antibody Syndrome ◽  
Blurred Vision ◽  
Significant Family History ◽  
History Of ◽  
The Right ◽  
Time Of Presentation ◽  
Underlying Pathophysiology

A 25-year-old Bangladeshi lady presented to neurology with a three-month history of involuntary movements of her right arm, associated with loss of power. There was progression to the right leg, and she subsequently developed episodes of slurred speech and blurred vision. At the time of presentation, she was 12 weeks pregnant and the symptoms were reported to have started at conception. Past medical history was unremarkable apart from one first trimester miscarriage and there was no significant family history suggestive of a hereditary neurological condition. MRI of the head revealed no abnormalities but serology showed positive antinuclear antibodies (ANAs) at a titre of 1/400. Further investigations revealed strongly positive anticardiolipin antibodies (>120) and positive lupus anticoagulant antibodies. The patient had a second miscarriage at 19 weeks gestation strengthening the possibility that the chorea was related to antiphospholipid antibody syndrome and she was started on a reducing dose of Prednisolone 40 mg daily and aspirin 300 mg daily. Six months later, she had complete resolution of neurological symptoms. There are several reports of chorea as a feature of antiphospholipid syndrome, but no clear consensus on underlying pathophysiology.

scholarly journals Brain tumors and indications for brain imaging in patients with psychiatric manifestations: a case report

2021 ◽  
Vol 28 (1) ◽  
Author(s):  
Seyed Alireza Haji Seyed Javadi ◽  
Bahare Rezaei
Keyword(s):  
Brain Tumor ◽  
Brain Tumors ◽  
Psychiatric Symptoms ◽  
Relevant Information ◽  
History Of ◽  
Response To Stress ◽  
The Right ◽  
Occipital Lobes ◽  
Psychiatric Manifestations ◽  
The Relationship

Abstract Background Studies on the relationship between psychiatric symptoms and brain tumors are ambiguous, as it is not clear whether these symptoms are due to the direct effect of the tumor or a secondary psychological response to stress, resulting from the diagnosis and treatment of the disease; therefore, it is difficult to analyze and retrieve relevant information. Case presentation We present the case of a 43-year-old male patient, who was admitted to a psychiatric emergency room with psychiatric symptoms, such as restlessness and extreme talkativeness, but normal neurological examinations. He showed no response to outpatient treatment and had no history of psychiatric disorders. The onset of symptoms was 2 months before his visit. On neuroimaging, a brain tumor was observed in the right temporal and occipital lobes. Accordingly, the patient was transferred to the neurosurgery ward. Conclusion Factors, such as increased internal pressure on the brain due to a brain tumor or the effect of tumor area, contribute to the occurrence of symptoms, such as restlessness and talkativeness. However, further studies are needed to confirm these findings.

The Right of Philosophy and the Facts of History: Foucault, Derrida, Descartes

2016 ◽  
Author(s):  
Gabriel Rockhill
Keyword(s):  
Social Sciences ◽  
The Social ◽  
History Of ◽  
Per Se ◽  
The Right ◽  
The Relationship

This chapter proposes a counter-history of a seminal debate in the transition from structuralism to post-structuralism. It calls into question the widespread assumption that Derrida rejects Foucault’s structuralist stranglehold by demonstrating that the meaning of a text always remains open. Through a meticulous examination of their respective historical paradigms, methodological orientations and hermeneutic parameters, it argues that Derrida’s critique of his former professor is, at the level of theoretical practice, a call to return to order. The ultimate conclusion is that the Foucault-Derrida debate has much less to do with Descartes’ text per se, than with the relationship between the traditional tasks of philosophy and the meta-theoretical reconfiguration of philosophic practice via the methods of the social sciences.

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

scholarly journals Breast cancer prevention: what women think about the illness, its risks and self-care

Psico ◽  
2018 ◽  
Vol 49 (3) ◽  
pp. 266
Author(s):  
Carolina Ribeiro Seabra ◽  
Maria Júlia Armiliato ◽  
Luisa Vital ◽  
Paola Otaran ◽  
Ana Carolina Peuker ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Perception ◽  
Illness Perception ◽  
Self Care ◽  
Personal History ◽  
Cáncer De Mama ◽  
Healthy Women ◽  
History Of ◽  
The Relationship ◽  
Illness Coherence

Background: Early detection of breast cancer (BC) is important to reduce mortality rates. To prevent BC, women should adopt self-care behaviors. This study aimed at examining risk and illness perception and self-care of healthy women regarding breast cancer. Methods: Participants were 211 women (M = 59.11 years, SD = 8.54) and with no personal history of the illness, selected by convenience. Measures were a sociodemographic, clinical and health behavior questionnaire, illness perception and risk perception questionnaires. Nonparametric statistics (Spearman) was employed to analyze the relationship between illness perception, risk perception and sociodemographic variables. The open answers to the causes of the illness were classified according to the content analysis. Results: We found a relationship between risk and illness perception and self-care in healthy women regarding BC. It was identified that women had reasonable illness coherence (M = 3.18) and considered the illness more timeline chronic than timeline acute (M = 3.22), reasonable timeline cyclical (M = 3.56), with severe consequences for health (M = 4.22), and reasonably threatening (M = 3.15). Conclusions: BC and risk perception and self-care are interrelated variables among healthy women. ***Prevenção do cancer de mama: o que as mulheres pensam sobre a doença, seus riscos e autocuidado***Introdução: A detecção precoce do câncer de mama (CM) é importante para reduzir as taxas de mortalidade. Para preveni-lo, a mulher deve adotar comportamentos de autocuidado em saúde. Esse estudo objetiva examinar a percepção de risco, a percepção da doença e o autocuidado de mulheres saudáveis com relação ao CM. Método: Participaram 211 mulheres (M = 59,11 anos; DP = 8,54) sem histórico de CM selecionados por conveniência. Os instrumentos foram questionário de dados sociodemográficos, clínicos e decomportamento em saúde, questionários de percepção da doença e percepção de risco. Estatística não paramétrica (Spearman) foi utilizada para analisar a relação entre percepção da doença, percepção de risco e variáveis sociodemográficas. As respostas abertas sobre as causas da doença foram classificadas segundo análise de conteúdo. Resultados: Observou-se que existe relação entre a percepção de risco e da doença, e autocuidado em mulheres saudáveis. Identificou-se que as mulheres têm razoável percepção de entendimento da doença (M = 3.18), a consideravam mais crônica que aguda (M = 3.22), razoavelmente cíclica (M = 3,56), com consequências graves à saúde (M = 4,22), e relativamente ameaçadora (M = 3,15). Conclusões: A percepção do CM, a percepção de risco e o autocuidado são variáveis inter-relacionadas em mulheres saudáveis.Palavras-chave: Neoplasias; Autorregulação; Câncer de mama; Autocuidado.

scholarly journals Thyroid haemangiosarcoma in a seven-year-old female Shih Tzu

2020 ◽  
Vol 8 (2) ◽  
pp. e001012
Author(s):  
Luis Pedro Rocha Moreira ◽  
Emma Scurrell ◽  
Paul Mahoney ◽  
Stephen Baines
Keyword(s):  
Histopathological Examination ◽  
Abdominal Ultrasound ◽  
Neck Mass ◽  
Clinical Staging ◽  
Ultrasound Guided ◽  
Fine Needle ◽  
Fine Needle Aspirates ◽  
History Of ◽  
The Right ◽  
Mixed Tumours

Canine thyroid tumours are uncommon and the majority of tumours are carcinomas or adenomas, with only very few mixed tumours or metastases from distant sites described to date. A primary thyroid haemangiosarcoma has never been reported in veterinary medicine. In this case report, we describe a dog with a history of a large, non-painful, mobile ventral neck mass in the right paralaryngeal region. CT and ultrasound-guided fine needle aspirates were used for clinical staging. The mass was surgically excised and histopathological examination indicated a haemangiosarcoma. Abdominal ultrasound revealed the presence of splenic nodules and splenectomy indicated the presence of haemangiosarcoma. Chemotherapy with doxorubicin was started, but the dog was euthanased after three rounds of therapy, 97 days after the mass was discovered.

scholarly journals Monocular Vision Loss: A Rare Cause

2019 ◽  
Vol 3 (4) ◽  
pp. 436-437
Author(s):  
David Lane ◽  
Kaila Pomeranz ◽  
Shannon Findlay ◽  
Daniel Miller
Keyword(s):  
Breast Cancer ◽  
Magnetic Resonance Imaging ◽  
Vision Loss ◽  
Metastatic Breast ◽  
Optic Chiasm ◽  
Monocular Vision ◽  
Resonance Imaging ◽  
History Of ◽  
Cerebral Structures ◽  
Optic Nerve Compression

A 62-year-old woman with a history of metastatic breast cancer and known meningioma presented with unilateral vision loss associated with anisocoria and an afferent pupillary defect. On magnetic resonance imaging we found the cause to be optic nerve compression by a right frontal meningioma. Monocular vision-loss etiologies are anatomically localized to structures anterior to the optic chiasm. This case serves as a reminder that cerebral structures in this location must not be forgotten in the differential.

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