OpenMed/multicare-articles huggingface dataset:
P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma
Authors: Sarah Bouri, Philippe Simon, Nicky D'Haene, Xavier Catteau, Jean-Christophe Noël
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Primary ovarian intestinal-type mucinous carcinomas associated with mature teratoma are rare and represent less than 3% of all primary ovarian neoplasms. The molecular profile of these tumors is still controversial. We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. Our data suggest that these mucinous carcinoma variants probably present an extremely complex molecular biology profile that should be known in the future to stratify therapeutic outcomes and potential targeted therapies, particularly in recurrent disease.
Autoimmune/inflammatory syndrome induced by adjuvants in a woman with Hashimoto thyroiditis and familial autoimmunity-a case report and literature review
Authors: Aleksandra Plavsic, Snezana Arandjelovic, Milan Dimitrijevic, Natasa Kusic, Vesna Tomic Spiric, Bojana Popovic, Zikica Jovicic, Aleksandra Peric Popadic, Rada Miskovic
Journal: Front Immunol (2023)
Keywords: aid, asia, hashimoto thyroiditis, sbi, familial autoimmunity
MeSH terms: Autoimmune Diseases / immunology, Hashimoto Disease / immunology, Review, Case Reports, Adult, Female, Humans, Magnetic Resonance Imaging

Introduction:
Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) consists of a wide spectrum of symptoms and immunological features that are believed to develop in predisposed individuals after exposure to an adjuvant, including a silicone breast implant (SBI). Different autoimmune diseases (AIDs) have been associated with ASIA, but ASIA development after SBI in women with Hashimoto thyroiditis (HT) and familial autoimmunity has rarely been described.
Case report:
A 37-year-old woman presented in 2019 with arthralgia, sicca symptoms, fatigue, + antinuclear antibody (ANA), + anti SSA, and + anticardiolipin Immunoglobulin G (IgG) antibodies. She was diagnosed with HT and vitamin D deficiency in 2012. The familial autoimmunity was present: the patient's mother had been diagnosed with systemic lupus erythematosus and secondary Sjogren's syndrome and her grandmother with cutaneous lupus and pernicious anemia. In 2017, the patient had a cosmetic SBI procedure that was complicated by repeated right breast capsulitis. After 2 years of irregular visits due to COVID-19, she presented with + ANA, + anticentromere antibodies both in sera and seroma, sicca syndrome, arthralgias, twinkling in extremities, abnormal capillaroscopic findings, and reduced diffusing capacity of the lungs for carbon monoxide. She was diagnosed with ASIA, and antimalarial and corticosteroid therapy were introduced.
Conclusion:
In patients with HT and familial autoimmunity, SBI should be carefully considered due to the possibility of ASIA development. Hashimoto thyroiditis, familial autoimmunity, and ASIA seem to be interconnected in the complex mosaic of autoimmunity in predisposed individuals.
Lessons learned from open laryngotracheal airway resection and primary anastomosis in high risk patients
Authors: Karuna Dewan, Gerald S Berke, Dinesh K Chhetri
Journal: PLoS One (2020)
MeSH terms: Anastomosis, Surgical / methods, Laryngostenosis / surgery, Tracheal Stenosis / surgery, Case Reports, Research Support, N.I.H., Extramural, Adult, Aged, Anastomosis, Surgical / adverse effects, Cohort Studies, Diabetes Mellitus, Type 1 / complications, Endoscopy, Female, Humans, Hypertension / complications, Kidney Failure, Chronic / complications, Laryngostenosis / complications, Male, Middle Aged, Postoperative Complications / etiology, Postoperative Complications / pathology, Pulmonary Disease, Chronic Obstructive / complications, Retrospective Studies, Risk Factors, Tracheal Stenosis / complications, Treatment Outcome

Objective:
Laryngotracheal stenosis is one of the most difficult conditions treated by the Otolaryngologist. Open resection of stenosis with primary airway anastomosis is the definitive treatment for this condition. However, some patients are considered high risk candidates for open airway surgery and management and outcomes in this group have not been reported. The purpose of this investigation is to identify a series of high risk patients who underwent open laryngotracheal surgery and detail the lessons learned in regards to their post-operative course and outcomes.
Methods:
A retrospective cohort study of all patients that underwent airway resection and primary anastomosis over a fifteen-year period was performed. High-risk patients, those with medical comorbidities that impair wound healing, were identified. Post-operative course, management of complications, and ultimate airway outcomes were noted.
Results:
Seven patients fitting the high-risk category were identified. Comorbidities were poorly controlled insulin dependent diabetes mellitus (N = 4), poorly controlled hypertension (N = 4), end stage renal disease requiring hemodialysis (N = 3), chronic obstructive pulmonary disease (N = 1), and history of radiation therapy (N = 1). Each patient suffered postoperative complications of varying degrees including postoperative infection (N = 1), formation of granulation tissue at the anastomotic site (N = 3), and postoperative hematoma (N = 1). Management included treatment of infection and complications. Anastomotic dehiscence was managed with tracheostomy and T-tubes.
Conclusions:
High-risk medical comorbidities may not be absolute contraindications for open laryngotracheal resection of airway stenosis. However, this experience emphasizes the importance of preoperative medical optimization and comprehensive postoperative care.
Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
Authors: Giulia Del Sindaco, Pablo Berlanga, Laurence Brugières, Eric Thebault, Giovanna Mantovani, Philippe Wicart, Agnès Linglart
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: aneurysmal bone cyst, bisphosphonate, bone modeling, denosumab, hypercalcemia
MeSH terms: Bone Cysts, Aneurysmal / drug therapy, Bone and Bones / drug effects, Denosumab / therapeutic use, Minerals / metabolism, Spinal Diseases / drug therapy, Case Reports, Adolescent, Bone Cysts, Aneurysmal / metabolism, Bone Cysts, Aneurysmal / pathology, Bone Density / drug effects, Bone Density Conservation Agents / adverse effects, Bone Density Conservation Agents / therapeutic use, Bone Remodeling / drug effects, Bone and Bones / physiology, Child, Child Development / drug effects, Denosumab / adverse effects, Follow-Up Studies, Genu Valgum / chemically induced, Genu Valgum / diagnosis, Genu Valgum / pathology, Humans, Male, Spinal Diseases / metabolism, Spinal Diseases / pathology, Bone Density Conservation Agents, Minerals, Denosumab

Aneurysmal bone cysts (ABCs) are rare benign pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding bone. Traditionally, these tumors were treated with open surgery, but there is more and more a shift to less invasive procedures. In particular, treatment for spinal ABCs is generally unsatisfactory due to the risk of morbidity, neurological impairment and recurrence, and there is a need for innovative therapies. Denosumab has been reported as a useful treatment in giant cell tumors of bone (GCTB), so its efficacy has been tested also in other fibro-osseus lesions affecting children and adolescents, such as spinal aneurysmal bone cysts. The pediatric literature is limited to case reports and small series, all of which highlight the efficacy of this treatment on lesions growth and associated bone pain. Some of these reports have already reported well known side effects associated with denosumab, such as hypocalcemia at the beginning of the treatment, and rebound hypercalcemia at the discontinuation. The latter seems to be more frequent in children and adolescents than in adults, probably due to the higher baseline bone turnover in children. In addition, the use of denosumab in young patients could affect both bone modeling and remodeling, even if the consequences on the growing skeleton have not been reported in detail. Here we describe the case of a spinal ABC diagnosed in an 8-year old young boy which was not accessible to surgery but responded favorably to denosumab. Our aim is to describe the rapid changes in mineral and bone homeostasis in this patient, that required advice from the experts of the European Reference Network (ERN) for rare bone and endocrine diseases.
Pediatric unicystic cystic partially differentiated nephroblastoma: The first case report
Authors: Liu Chao, Zhang Lei, Li Xiang, Zhou Qi
Journal: Front Pediatr (2022)
Keywords: case report, cystic partially differentiated nephroblastoma, first, pediatric, unicystic
MeSH terms: Case Reports

Cases of patients with cystic partially differentiated nephroblastoma (CPDN) have been reported to date, which presented as polycystic renal tumor in all of them. It is a special pathological type of nephroblastoma. Here, we report the first case of a unicystic CPDN in a child. The patient was diagnosed with a simple renal cyst and underwent laparoscopic decortication. The naive nephron was found in the pathological section, and the diagnosis of CPDN was confirmed. The patient then underwent a radical nephrectomy and six cycles of postoperative chemotherapy. There was no recurrence or metastasis after 2 years of follow-up. Pediatric CPDN presenting as a unicystic renal tumor poses a new challenge to the diagnosis, differential diagnosis, and treatment of unicystic renal tumor.
Case-report: A rare cause of an intra-abdominal mass
Authors: Amanda Shabana, Farzan Dholoo, Rebecca Nunn, Waseem Hameed
Journal: Int J Surg Case Rep (2019)
Keywords: abdominal, cyst, mesenteric, cyst, mass, pain, surgical, techniques, ’s and

Introduction:
Mesenteric cysts are a rare and often asymptomatic incidental finding on imaging. The diagnosis and management of mesenteric cysts remains a clinical challenge since those presenting with symptoms, often have vague and nonspecific symptoms, owing to variability in cyst location and size. This case report will aim to discuss the presentation, investigation and management options available.
Presentation:
A 73-year-old female presented with abdominal swelling and a palpable right sided mass. Examination revealed a right sided mass and abdominal distention with vital signs within normal limits. Ultrasound scan (USS) revealed a right-sided 12 cm × 11 × cm × 8 cm thin walled cyst.
Discussion:
Mesenteric cysts are mostly asymptomatic but can cause nonspecific symptoms of abdominal pain, abdominal distension, altered bowel habit, nausea, vomiting and an abdominal mass. Complete surgical excision, either laparoscopically, or through a laparotomy is typically considered first line treatment. If size or location of the cyst precludes complete surgical excision, partial excision with marsupialisation of the opening of the cyst into the abdominal peritoneal cavity is a second option.
Conclusion:
Mesenteric cysts represent a rare cause of intra-abdominal mass. Owing to low prevalence, literature is limited as is guidance on management. Careful pre-operative planning is essential so as to avoid operative complications. Imaging such as USS is of great importance; however Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) may be of more benefit, owing to the complex anatomical relations within which mesenteric cysts can present. Surgical excision is widely reported as the surgical treatment of choice for symptomatic cysts.
Giant ureteral fibroepithelial polyp presenting as a bladder mass resected ureteroscopically: a case report
Authors: Ali Momenzadeh, Farhad Sarrafzadeh, Mohammad-Hossein Nourbala, Amin Saburi, Zeinab Telkabadi
Journal: Nephrourol Mon (2013)
Keywords: neoplasms, fibroepithelial, ureter, ureteroscopy, urinary bladder
MeSH terms: Case Reports

Primary ureteral neoplasms are very rare and its prevalence is less than 1% of all genitourinary neoplasms. We report a symptomatic giant ureteral fibro epithelial polyp in adult women presenting as a bladder mass which was resected ureteroscopically and reported at the first time from Iran. Cystoscopy is growing use in the treatment of urinary tract lesions Cystoscopy can be used in large lesions in centers with experience rather than open surgery.
Carotid artery injury from an airgun pellet: a case report and review of the literature
Authors: Syed Abad, Ian Ds McHenry, Lachlan M Carter, David A Mitchell
Journal: Head Face Med (2009)
MeSH terms: Carotid Artery Injuries / surgery, Carotid Artery, External / surgery, Wounds, Gunshot / surgery, Case Reports, Review, Carotid Artery Injuries / etiology, Humans, Male, Wounds, Gunshot / complications, Young Adult

Historically airguns were powerful weapons. Modern models, though less lethal, are still capable of inflicting serious or life threatening injuries. Current United Kingdom legislation fails to take into the account the capacity for airguns to maim and kill. We believe that airguns should be governed by the same law that applies to firearms. We present a case of a potentially fatal airgun injury to the neck. The airgun pellet caused a defect in the anterior wall of the external carotid artery, which required rapid access and surgical repair. We discuss the mechanism of airgun injury and review the literature in terms of investigation and management.
Localization of a Peripheral Residual Cyst: Diagnostic Role of CT Scan
Authors: Anshuman Jamdade, Gopakumar R Nair, Madhur Kapoor, Neeta Sharma, Arya Kundendu
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

The term residual cyst is used most often for retained radicular cyst from teeth that has been removed. Residual cysts are among most common cysts of the jaws. The location of all odontogenic cysts is usually intraosseous. The peripheral (extraosseous) presentations are rare. The peripheral presentation of residual cyst has never been reported in the literature. In this article, the role of CT in diagnosing an unusual peripheral presentation of a residual cyst is discussed.
Primary cardiac angiosarcoma resection and reconstruction with pedicled autologous pericardium: A case report
Authors: Hirotake Gonda, Masato Nakayama, Masashi Toyama, Takehito Kato
Journal: Int J Surg Case Rep (2020)
Keywords: cardiac angiosarcoma, pedicled autologous pericardium, reconstruction
MeSH terms: Case Reports

Introduction:
Primary cardiac angiosarcoma is rare, and its prognosis remains poor. Complete surgical resection is the first choice among the available treatments, to ensure prolonged patient survival.
Presentation of case:
We report the case of a 72-year-old man with right atrial angiosarcoma who presented with bloody pericardial effusion due to tumor hemorrhaging. Emergency surgery was performed. The right atrial free wall and vena cava were reconstructed with pedicled autologous pericardium. The patient died 12 months later because of multiple organ failure due to metastasis. Autopsy showed a maintained right atrial chamber and only mild calcification.
Discussion:
Pedicled autologous pericardium may have contributed to preserving cardiac function that could withstand chemotherapy and radiotherapy.
Conclusion:
Pedicled autologous pericardium was found to be useful for reconstructing the cardiac chamber after removal of a cardiac tumor.
Coverage of Megaprosthesis with Human Acellular Dermal Matrix after Ewing's Sarcoma Resection: A Case Report
Authors: Robert M Whitfield, Jeremy Rinard, David King
Journal: Sarcoma (2011)
MeSH terms: Case Reports

A 23-year-old female with Ewing's Sarcoma underwent tibial resection and skeletal reconstruction using proximal tibial allograft prosthetic reconstruction with distal femur endoprosthetic reconstruction and rotating hinge. Human acellular dermal matrix, (Alloderm, LifeCell, Branchburg, NJ, USA), was used to wrap the skeletal reconstruction. Soft tissue reconstruction was completed with a rotational gastrocnemius muscle flap and skin graft. Despite prolonged immobilization, the patient quickly regained full range of motion of her skeletal reconstruction. Synthetic mesh, tapes and tubes are used to perform capsule reconstruction of megaprosthesis. This paper describes the role of human acellular dermal matrix in capsule reconstruction around a megaprosthesis.
Changes in EEG complexity with electroconvulsive therapy in a patient with autism spectrum disorders: a multiscale entropy approach
Authors: Ryoko Okazaki, Tetsuya Takahashi, Kanji Ueno, Koichi Takahashi, Makoto Ishitobi, Mitsuru Kikuchi, Masato Higashima, Yuji Wada
Journal: Front Hum Neurosci (2015)
Keywords: eeg complexity, autism spectrum disorders, brain-derived neurotrophic factor, electroconvulsive therapy, multiscale entropy, obsessive–compulsive disorder

Autism spectrum disorders (ASD) are heterogeneous neurodevelopmental disorders that are reportedly characterized by aberrant neural networks. Recently developed multiscale entropy analysis (MSE) can characterize the complexity inherent in electroencephalography (EEG) dynamics over multiple temporal scales in the dynamics of neural networks. We encountered an 18-year-old man with ASD whose refractory catatonic obsessive-compulsive symptoms were improved dramatically after electroconvulsive therapy (ECT). In this clinical case study, we strove to clarify the neurophysiological mechanism of ECT in ASD by assessing EEG complexity using MSE. Along with ECT, the frontocentral region showed decreased EEG complexity at higher temporal scales, whereas the occipital region expressed an increase at lower temporal scales. Furthermore, these changes were associated with clinical improvement associated with the elevation of brain-derived neurotrophic factor, which is a molecular hypothesis of ECT, playing key roles in ASD pathogenesis. Changes in EEG complexity in a region-specific and temporal scale-specific manner that we found might reflect atypical EEG dynamics in ASD. Although MSE is not a direct approach to measuring neural connectivity and the results are from only a single case, they might reflect specific aberrant neural network activity and the therapeutic neurophysiological mechanism of ECT in ASD.
Patellar tendon reconstruction using LARS ligament: surgical technique and case report
Authors: Soulat Naim, Nikolaos Gougoulias, David Griffiths
Journal: Strategies Trauma Limb Reconstr (2011)
Keywords: extensor mechanism, lars, patellar tendon, reconstruction, rupture

Neglected patella tendon ruptures require reconstruction using tendon grafts. The LARS ligament has been successfully used in cruciate and collateral knee ligament reconstruction. We present a technique using LARS ligament for the reconstruction of a chronic patella tendon rupture in a low-demand patient. The result after 1-year follow-up was deemed successful.
Tubulointerstitial nephritis in primary Sjögren syndrome: clinical manifestations and response to treatment
Authors: Rhys D R Evans, Christopher M Laing, Coziana Ciurtin, Stephen B Walsh
Journal: BMC Musculoskelet Disord (2016)
MeSH terms: Immunosuppressive Agents / therapeutic use, Nephritis, Interstitial / diagnosis, Nephritis, Interstitial / drug therapy, Sjogren's Syndrome / diagnosis, Sjogren's Syndrome / drug therapy, Case Reports, Adrenal Cortex Hormones / therapeutic use, Adult, Aged, Female, Humans, Male, Middle Aged, Mycophenolic Acid / analogs & derivatives, Mycophenolic Acid / therapeutic use, Nephritis, Interstitial / complications, Sjogren's Syndrome / complications, Treatment Outcome, Adrenal Cortex Hormones, Immunosuppressive Agents, Mycophenolic Acid

Background:
Primary Sjögren syndrome (pSS) is a common autoimmune condition which primarily affects epithelial tissue, often including the kidney causing either tubulointerstitial nephritis (TIN) or more rarely, an immune complex related glomerulonephritis.
Methods:
We describe the clinical, biochemical and histological characteristics of 12 patients with pSS related TIN and their response to treatment with antiproliferative agents. All 12 patients were investigated and treated at the UCL Centre for Nephrology in London.
Results:
All patients had TIN demonstrated via needle biopsy; immunophenotyping showed that the interstitial infiltrate was predominantly a CD4+ T-cell infiltrate. Urinary acidification testing demonstrated distal renal tubular acidosis in 8 patients. Proximal tubular dysfunction was present in 5 patients. All but 1 patient were treated with antiproliferative agents and most also with a reducing course of steroids. In the treated patients, there was a significant improvement in the serum creatinine and measured GFR.
Conclusion:
Patients with pSS TIN have significant renal impairment and other functional tubular defects. There is a mononuclear lymphocytic infiltrate on renal biopsy and this appears to be mainly a CD4+ T-cell infiltrate. Treatment with mycophenolate (and corticosteroids) improves the renal function in patients with pSS TIN.
Is It Coincidence or Consequence for a Case with Antiphospholipid Antibody Syndrome Overlapping SLE to Develop an Immune Complex Nephropathy Followed by a Nonimmune Complex Podocytopathy?
Authors: Jinil Yoo, Hugo Villanueva, Manimaran Kaliamurthy, John Kang, Lin Lwin
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Antiphospholipid antibody syndrome (APS) may occur in a primary form or in association with SLE and seldom presents with nephrotic syndrome (NS). We present a case with APS who developed recurrent NS 6 years apart. The first episode of NS occurred with biopsy findings consistent with lupus nephritis (LN) class V (membranous) with no clear evidence of SLE, and responded to a remission with steroids and MMF. On the 2nd episode, the biopsy revealed negative immunofluorescent (IF) study for immune complexes and EM findings of complete effacement of foot processes and acellular debris in thickened capillary walls, compatible with healed previous episode of membranous LN and minimal change disease (MCD), a nonimmune complex podocytopathy. The 2nd episode responded to a partial remission, primarily with a short-term steroid therapy, and subsequently developed serologic evidence of SLE. Now there is growing evidence that a subset of SLE patients with NS are found to have MCD, likely due to podocyte injury caused by nonimmune complex pathway, called lupus podocytopathy. In LN, serial kidney biopsies often show transformation from one to another class of immune complex-induced glomerular lesions; however there are rare reports describing transformation of an immune complex to a nonimmune complex LN. Since the pathogenic mechanism of lupus podocytopathy is not delineated, and so far there are no reports on transformation of membranous LN, an immune complex nephropathy, to a nonimmune complex lupus podocytopathy, it still remains as a question whether our case with APS overlapping SLE had a concomitant membranous LN and lupus podocytopathy, or consequential membranous LN and lupus podocytopathy 6 years apart.