scholarly journals Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Mashu Futagawa ◽  
Hideki Yamamoto ◽  
Mariko Kochi ◽  
Yusaku Urakawa ◽  
Reimi Sogawa ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Splice Variant ◽  
Protein Production ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Acceptor Site ◽  
Splicing Variant ◽  
First Case ◽  
The Relationship

Abstract Background RAD51D (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including BRCA impairment, there is no clear evidence of the relationship between RAD51D variants and the risk of sarcoma development. Case presentation A Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of RAD51D c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the RAD51D splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of RAD51D with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of RAD51D. Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered RAD51D, this case provided novel evidence for the relationship of a RAD51D splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of RAD51D c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma. Conclusions We present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of RAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline RAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.

scholarly journals Preoperative diagnosis of a “humanoid” fetus in fetu using multimode ultrasound: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Hualin Yan ◽  
Juxian Liu ◽  
Yan Luo ◽  
Yang Wu ◽  
Lanxin Du
Keyword(s):  
Case Report ◽  
Blood Supply ◽  
Preoperative Diagnosis ◽  
Color Doppler ◽  
Neuron Specific Enolase ◽  
Color Doppler Flow Imaging ◽  
Fetus In Fetu ◽  
Abdominal Tumors ◽  
First Case ◽  
The Relationship

Abstract Background Fetus in fetu (FIF) is a rare congenital anomaly. The preoperative diagnosis of FIF and differentiating it from teratoma and other abdominal tumors can be challenging for radiologists. Clarification of the blood supply and the relationship with the surrounding vessels is especially helpful for successful surgery; however, multimode ultrasound (US) performed for FIF has rarely been explored. Here, we first report a “humanoid” FIF case diagnosed by multimode US examinations, with the use of contrast-enhanced ultrasound (CEUS) for clarifying the blood supply features. Case presentation A 25-day-old preterm male infant was referred to our hospital for surgery. The US and computed tomography (CT) examinations led to a diagnosis of teratoma at the local hospital. The laboratory workup at our hospital revealed an elevation of total bilirubin, direct bilirubin, indirect bilirubin, alpha-fetoprotein, and neuron-specific enolase levels. A precise diagnosis and differentiation from teratoma, hepatoblastoma, neuroblastoma and other abdominal tumors were needed. In addition, the blood supply and the relationship with the surrounding vessels needed clarification prior to surgery. Multimode US examinations were performed and the features of a “humanoid” FIF as well as the blood supply for the abdominal lesion of the infant were suggested by grayscale US, color Doppler flow imaging (CDFI), and CEUS. Furthermore, CDFI and CEUS revealed an aorta-like structure and umbilical cord-like blood vessels in the “humanoid” FIF, and the CEUS helped with marking the surface of the infant’s abdominal wall. To the best of our knowledge, this is the first case report of CEUS in FIF, and the blood supply was clearly demonstrated in the FIF. The intraoperative findings confirmed our multimode US findings and revealed a “humanoid” FIF. The infant quickly recovered after the operation and had no positive findings at the 2-year follow-up visit. Conclusions Multimode US was helpful in diagnosing the rare FIF without radiation exposure. Specifically, CEUS clearly demonstrated the limb branch vessel-like structures, the abdominal aorta-like structure and the blood supply, which was useful for the FIF diagnosis and for avoiding damage to important vessels during the operation.

scholarly journals Periodontal Surgery Intervention for Gingival Smile Correction - Case Report

2020 ◽  
Vol 14 (1) ◽  
pp. 27-34
Author(s):  
Beatriz S. Sangalette ◽  
Larissa V. Vieira ◽  
Felippo R. Verri ◽  
Leandro R. Mestrener ◽  
Sandra R. Mestrener ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Surgical Techniques ◽  
Healing Time ◽  
Private Clinic ◽  
Periodontal Surgery ◽  
New Approach ◽  
Initial Surgery ◽  
High Degree ◽  
The Relationship

Introduction: The success of anterior rehabilitation requires more skills than knowledge. It is necessary that the professional has updates on a new approach to obtain the best result considering the high degree of the exigency of these cases. The relationship between red and white esthetic is known and consolidated in the literature. Then, to achieve success in an esthetic smile is indispensable to apply periodontal surgery associated with restorative technique. Methods: In this report, a 28-year-old female patient sought care in a private clinic with a major cosmetic complaint due to disproportion of the clinical crown and gingival smile. Result: After planning, a clinical crown increase was performed, followed by the labial repositioning technique after the healing time of the initial surgery. Conclusion: It can be concluded that some of the surgical techniques, demonstrated in the literature, for gingival correction are feasible when correctly indicated. The best esthetic results will be achieved when the professional can understand the necessity to correct the disharmony of white and red esthetic.

scholarly journals Case Report of Infectious Spondylitis Caused by Kytococcus sedentarius

Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 797
Author(s):  
Kyoung Ree Lim ◽  
Jun Seong Son ◽  
Soo-youn Moon
Keyword(s):  
Back Pain ◽  
Case Report ◽  
Female Patient ◽  
Surgical Procedure ◽  
Case Presentation ◽  
First Case ◽  
Infectious Spondylitis

Background: Kytococcus species has not been considered a pathogen, but infections caused by this species are increasing. There are several cases of infections caused by Kytococcus sedentarius, but no case of infectious spondylitis has been reported yet. Case presentation: A 79-year-old female patient was hospitalized because of back pain for several months. She was diagnosed with infectious spondylitis, and K. sedentarius was cultured from the pus and specimen obtained during the surgical procedure. The patient recovered completely without recurrence after 6 months of treatment with ciprofloxacin alone for 8 weeks. Conclusion: This is the first case report of infectious spondylitis caused by K. sedentarius.

scholarly journals Psychotherapy Role in Treatment of Chronic Spontaneous Urticaria in a 32 Years Old Female Patient

2019 ◽  
Vol 7 (18) ◽  
pp. 3118-3120
Author(s):  
Petar Vojvodic ◽  
Tatjana Vlaskovic-Jovicevic ◽  
Jovana Vojvodic ◽  
Aleksandra Vojvodic ◽  
Goran Sijan ◽  
...  
Keyword(s):  
Case Report ◽  
Stress Response ◽  
Female Patient ◽  
Scientific Evidence ◽  
Chronic Spontaneous Urticaria ◽  
Strong Connection ◽  
Psychiatric Conditions ◽  
The Relationship

As indicated by the latest scientific evidence, the lines between different fields of medicine gradually blur and overlap more and more. Psychiatry and dermatology have seen this trend in the last decade as an ever-increasing number of studies suggest the strong connection of many dermatological syndromes and diseases with psychiatric conditions and vice versa. It seems that the relationship is more intertwined than previously believed and the effects of different multidisciplinary approaches to diagnostic and treatment are being considered. The aim of this case report is to highlight the effect of psychotherapy on chronic spontaneous urticaria which is tightly related to the maladaptive stress response.

scholarly journals Sarcoidosis Developing During Secukinumab Therapy: Case Report

2017 ◽  
Vol 1 (2) ◽  
pp. 95
Author(s):  
Timothy Nyckowski ◽  
Roger Ceilley ◽  
Joshua Wilson
Keyword(s):  
Case Report ◽  
Psoriatic Arthritis ◽  
Side Effect ◽  
Pulmonary Involvement ◽  
Unknown Etiology ◽  
Systemic Involvement ◽  
First Case ◽  
Relationship Of ◽  
The Relationship

Introduction: Sarcoidosis is a systemic granulomatous inflammatory disease with an unknown etiology and complex pathogenesis. Existing literature supports the relationship of new-onset sarcoidosis with the use of a several biologic agents. Since the skin is the second most commonly involved organ in sarcoidosis and often precedes systemic involvement, dermatologists must be able to recognize its non-specific clinical presentation.Case Report: We present a 45 year old female with psoriatic arthritis who developed biopsy proven cutaneous sarcoidal granulomas with pulmonary involvement shortly after initiating secukinumab for treatment of psoriatic arthritis. Despite discontinuation of secukinumab, the sarcoidosis has persisted.Discussion: This is the first case report of secukinumab, or any IL-17 inhibitor related sarcoidosis that we are aware of in the literature. Dermatologists should be aware of this as a possible side effect of secukinumab use. As the research on the role of IL-17 in the pathogenesis of sarcoidosis continues to develop, the implications of this side effect of IL-17 inhibition may have important future implications.

scholarly journals Case of Vaccine-Associated Fibrosarcoma (VAS), Related to Aluminium, in a Cat

2019 ◽  
Vol 39 (04) ◽  
Author(s):  
Fulya Altinok-Yipel ◽  
Nuri Altug ◽  
Sevda Inan
Keyword(s):  
Case Report ◽  
Tumor Tissue ◽  
Histopathological Examination ◽  
Tumor Development ◽  
Thoracic Vertebrae ◽  
Protective Measures ◽  
First Case ◽  
Subcutaneous Mass ◽  
The Relationship ◽  
Scanning Electron

An 11-year-old, male, crossbreed cat was presented for a subcutaneous mass affecting the prescapular region extending to the thoracic vertebrae. The diagnosis of fibrosarcoma was made according to the histopathological examination of the biopsy. Scanning electron microscopy (SEM-EDX) was used to determine the presence of aluminium in the tumor tissue. The owner did not accept further treatment, so the cat died 1 month after diagnosis. This is the first case report from Turkey which diagnoses verified by SEM and has shown that aluminium-containing vaccines may be associated with fibrosarcoma formation. Awareness of the side effects of adjuvants is still not enough level. Determining the frequency of VAS in fibrosarcoma cases will contribute to the increase of life span/survival by protective measures. The aim of this case report is to draw attention to the adjuvant contents of the vaccines and to scrutinize the relationship between vaccine applications and tumor development.

scholarly journals Topical Simvastatin Solution Combined With Narrowband UVB in Treatment of Vitiligo: a Case Report

2021 ◽  
Author(s):  
Wen-ting Hu ◽  
Yangyang Ma ◽  
Fuquan Lin ◽  
Miaoni Zhou ◽  
Ai-e Xu
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Successful Treatment ◽  
Therapeutic Agent ◽  
Potential Treatment ◽  
Old Chinese ◽  
Potential Therapeutic Agent ◽  
First Case ◽  
Narrowband Uvb

Abstract Background: Simvastatin is now considered a potential therapeutic agent to treat vitiligo. To the best of our knowledge, this is the first case report about the successful treatment of topical simvastatin with narrowband UVB.Case presentation: a 34-year-old Chinese female patient vitiligo was cured by topical simvastatin solution with narrowband UVB.Conclusions: topical simvastatin may be a potential treatment against vitiligo.

Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report

2019 ◽  
Vol 24 (2) ◽  
pp. 153-158 ◽  
Author(s):  
Lauren E. Rotman ◽  
James R. Hackney ◽  
Benjamin M. McGrew ◽  
Winfield S. Fisher ◽  
Curtis J. Rozzelle
Keyword(s):  
Case Report ◽  
Intracerebral Hemorrhage ◽  
Temporal Bone ◽  
Aneurysmal Bone Cyst ◽  
Developmental Disorder ◽  
Bone Cyst ◽  
First Case ◽  
Cardiofaciocutaneous Syndrome ◽  
Secondary Aneurysmal Bone Cyst ◽  
The Relationship

Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an association between CFCS and chondroblastoma.

Angiocentric T-Cell Lymphoma of the Tonsil: A Case Report

1996 ◽  
Vol 75 (5) ◽  
pp. 309-311 ◽  
Author(s):  
Lisa K. Helfend ◽  
Howard I. Finkle ◽  
Harvey M. Freedman
Keyword(s):  
Case Report ◽  
T Cell ◽  
Cell Lymphoma ◽  
T Cell Lymphoma ◽  
Barr Virus ◽  
First Case ◽  
Epstein Barr ◽  
Immunodeficiency Syndrome ◽  
Relationship Of ◽  
The Relationship

We present a case of an angiocentric T-cell lymphoma (ACTL) occurring in a 31-year-old woman with the Acquired Immunodeficiency Syndrome (AIDS). This patient had oropharyngeal pain, a non-healing superficially ulcerated right tonsil, and no obvious tumor mass. Initial tonsillar biopsy revealed a subtle, non-specific, perivascular lymphocytic infiltrate subjacent to an ulcerated and inflamed mucosal lining. A benign, although atypical, inflammatory process was suspected. The distinctive features in this case include the relationship of ACTL to the Epstein-Barr Virus (EBV), which is usually related to B-cell lymphoproliferative disorders, the unique non-midline location of the lesion, and the relationship of ACTL to AIDS. ACTL appears to represent a unifying pathologic entity encompassing formerly described angioinvasive lymphoid lesions including polymorphic reticulosis, midline lethal granuloma, and lymphomatoid granulomatosis. We present these subtle histopathologic features to alert otolaryngologists who may encounter these cases, especially in AIDS patients who present extensive diagnostic possibilities. To the best of our knowledge, this is the first case report of ACTL involving the tonsil.

scholarly journals Sex cord tumor with annular tubules in patients with Turner syndrome: Mosaicism 45X/46XY

2018 ◽  
Vol 27 (02) ◽  
pp. 194-198
Author(s):  
María Sánchez ◽  
Angie Garzón ◽  
Jaime Pérez ◽  
Adam Hittelman ◽  
Camila Céspedes ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Turner Syndrome ◽  
Y Chromosome ◽  
Stromal Tumor ◽  
Stromal Tumors ◽  
First Case ◽  
Close Relationship ◽  
The Relationship ◽  
Sex Cord Stromal Tumor

Introduction It has been described among the literature the close relationship that exists between dysgenetic gonads with positive Y chromosome and the risk of developing gonadoblastoma. However, it is still uncertain the relationship with stromal tumors and there is not much information about this topic. In this paper is presented the case of a patient with Turner syndrome mosaicism 45X(8)/46,XY(92) and sex cord tumor with annular tubule pattern. Materials and methods A search was conducted in Embase, Ovid, Ebsco and PubMed databases with the terms “(Turner syndrome) and sex cord stromal tumor”. However, only in PubMed we were able to find an article that meets the search criteria and it is considered the first case report in the literature that refers to the relationship between Turner syndrome and sex cord stromal tumor. Conclusions There is little evidence that exists for cases like this, so the management of these patients is still uncertain and controversial, especially by the different perspectives in-between specialties. Specifically, with this patient it is still uncertain the relationship between the risk and the benefit of the management with growth hormone after the finding of neoplasm.

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