OpenMed/multicare-articles huggingface dataset:
Response to pembrolizumab in a heavily treated patient with metastatic ovarian carcinosarcoma
Authors: Graziela Zibetti Dal Molin, Carina Meira Abrahão, Robert L Coleman, Fernando Cotait Maluf
Journal: Gynecol Oncol Res Pract (2018)
Keywords: anti-pd1 antibody, immune checkpoint inhibitors, immunotherapy, ovarian carcinosarcoma, pembrolizumab
MeSH terms: Case Reports

Background:
Ovarian carcinosarcoma is a rare malignancy associated with a high rate of cancer-related mortality even at early stages. Guidelines for systemic treatment have been difficult to establish because the disease is commonly excluded from prospective clinical trials. Ovarian carcinosarcoma is usually managed as high-grade epithelial ovarian cancer despite major histologic differences. Owing to the rarity and poor prognosis of ovarian carcinosarcoma, salvage treatments and their efficacy have been poorly described.
Case presentation:
A patient heavily treated for ovarian carcinosarcoma showed an objective response to an immune checkpoint inhibitor, pembrolizumab. Pembrolizumab in this patient appeared to provide tumor control in multifocal metastatic sites.
Conclusions:
Pembrolizumab should be evaluated in prospective trials for the treatment of ovarian carcinosarcoma and further work is needed to identify patients most likely to respond to this type of intervention.
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Authors: Nuno Maia, Gabriela Soares, Cecília Silva, Isabel Marques, Bárbara Rodrigues, Rosário Santos, Manuel Melo-Pires, Arjan Pm de Brouwer, Teresa Temudo, Paula Jorge
Journal: Front Genet (2020)
Keywords: autosomal recessive spinocerebellar ataxia 20, snx14 gene, cerebellar hypoplasia, complex genomic rearrangement, exome sequencing, intellectual disability
MeSH terms: Case Reports

Autosomal Recessive Spinocerebellar Ataxia 20, SCAR20, is a rare condition characterized by intellectual disability, lack of speech, ataxia, coarse facies and macrocephaly, caused by SNX14 variants. While all cases described are due to homozygous variants that generally result in loss of protein, so far there are no other cases of reported compound heterozygous variants. Here we describe the first non-consanguineous SCAR20 family, the second Portuguese, with two siblings presenting similar clinical features caused by compound heterozygous SNX14 variants: NM_001350532.1:c.1195C>T, p.(Arg399*) combined with a novel complex genomic rearrangement. Quantitative PCR (Q-PCR), long-range PCR and sequencing was used to elucidate the region and mechanisms involved in the latter: two deletions, an inversion and an AG insertion: NM_001350532.1:c.[612+3028_698-2759del;698-2758_698-516inv;698-515_1171+1366delinsAG]. In silico analyses of these variants are in agreement with causality, enabling a genotype-phenotype correlation in both patients. Clinical phenotype includes dystonia and stereotypies never associated with SCAR20. Overall, this study allowed to extend the knowledge of the phenotypic and mutational spectrum of SCAR20, and to validate the role of Sorting nexin-14 in a well-defined neurodevelopmental syndrome, which can lead to cognitive impairment. We also highlight the value of an accurate clinical evaluation and deep phenotyping to disclose the molecular defect underlying highly heterogeneous condition such as intellectual disability.
Sequential CAR T-Cell Therapy After Autologous Stem Cell Transplantation for the Treatment of Relapsed/Refractory Intravascular Large B-Cell Lymphoma With Central Nervous System Involvement: A Case Report
Authors: Wanying Liu, Chunrui Li, Yang Cao, Na Wang, Liang Huang, Zhen Shang, Jue Wang, Lifang Huang, Jinhuan Xu, Min Xiao, Yicheng Zhang, Jianfeng Zhou, Liting Chen, Yi Xiao
Journal: Front Oncol (2022)
Keywords: b-cell lymphoma, car t-cell therapy, cns involvement, ivlbcl, intravascular
MeSH terms: Case Reports

Background:
Intravascular large B-cell lymphoma (IVLBCL) is a rare, aggressive, large B-cell non-Hodgkin's lymphoma. The prognosis of IVLBCL in patients with central nervous system recurrence after first-line chemotherapy treatment is extremely poor. Among immunotherapies, chimeric antigen receptor (CAR) T-cell immunotherapy has been recently found to be a highly effective treatment for B-cell lymphoma, especially for relapsed or refractory diffuse large B-cell lymphoma. However, no guidelines are available that provide a clear consensus regarding the management of patients with relapsed/refractory IVLBCL. Here, we report, for the first time, the use of autologous hematopoietic stem cell transplantation (ASCT) and CAR T-cell therapy in a patient with relapsed/refractory IVLBCL.
Case presentation:
A 42-year-old woman was diagnosed with IVLBCL based on liver biopsy and developed central nervous system (CNS) progression. The patient received ASCT combined with murine monoclonal anti-CD19 and anti-CD22 CAR T-cell therapy. She achieved complete remission for 22 months so far with negative minimal residual disease and continues to be followed up.
Conclusion:
ASCT combined with CAR T-cell therapy was the best choice for treatment of relapsed/refractory IVLBCL, as it allowed the achievement of a lasting complete remission.
Sodium valproate-induced nocturnal enuresis in epilepsy: Three case reports and a review of the literature
Authors: Xiaorong Zhang, Wei Lu, Xiaoye Mo
Journal: Front Neurol (2023)
Keywords: case report, enuresis, literature review, side effect, sodium valproate
MeSH terms: Case Reports

Background:
Enuresis is an uncommon adverse effect of sodium valproate therapy that is unknown to most clinicians. This study provides an overview of the literature on enuresis associated with sodium valproate therapy, discussing the clinical manifestations and possible mechanisms of this side effect.
Methods:
We reported three cases of enuresis induced by sodium valproate and reviewed the published enuresis cases associated with sodium valproate therapy retrieved from databases.
Case presentation and results:
Three new patients with epilepsy who presented with enuresis following sodium valproate therapy were reported, and 55 published cases of nocturnal enuresis associated with sodium valproate were evaluated. The average age of these patients varied from 4 to 20 years. A total of 48 cases had generalized seizures, seven had focal seizures, and three had unknown seizures. In all the patients, the plasma concentration of sodium valproate was 80.76 ± 14.80 μg/mL, within the therapeutic range when enuresis occurred. With discontinuation or reduction of the drug, all the patients recovered completely.
Conclusion:
Sodium valproate-induced enuresis is a rare and reversible side effect, occurring at a younger age, characterized by the generalized onset of seizures, and a rather high dose. The possible mechanisms include insufficient secretion of anti-diuretic hormones, sleep disorder, and hyperactivity of the parasympathetic system. Clinicians should be aware of this uncommon side effect to avoid an incorrect adjustment of the treatment direction.
Successful Subsequent Pregnancy in a Woman Receiving Eculizumab for Pregnancy-Associated Atypical Haemolytic Uraemic Syndrome
Authors: Samantha Bateman, Maleeka Ladhani, Shilpanjali Jesudason
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Atypical haemolytic uraemic syndrome (aHUS) is a form of thrombotic microangiopathy precipitated by unopposed complement activation, the treatment of which has been revolutionised by the availability of the monoclonal anti-complement (C5) antibody, eculizumab. Historically, women with aHUS would be unable to achieve a successful pregnancy due to the severity of their renal disease and for the few who could conceive, recurrence of aHUS was a significant risk. In spite of this, parenthood remains a priority for many. Experience with eculizumab use in the management of aHUS during pregnancy is growing and with it comes a significant change in the course of the disease. We present the case of a 28-year-old woman diagnosed with severe aHUS in the first trimester of her first pregnancy. She received rescue therapy with eculizumab and had a return to normal renal function. While this pregnancy was lost, she strongly desired a family. We managed her through a subsequent pregnancy while receiving eculizumab. This pregnancy was uncomplicated and carried to term and she birthed a healthy 2500 g baby girl. The complexities of managing a pregnancy in a woman with a history of aHUS are vast but not insurmountable, as demonstrated by this case.
Idiopathic Intracranial Hypertension Papillopathy due to Hormonal Changes during Pregnancy
Authors: Marco Mafrici, Francesca Tona, Serena Fragiotta, Umberto Lorenzi, Lorenzo Gitto, Laura Toscani
Journal: Case Rep Ophthalmol Med (2023)
MeSH terms: Case Reports

Background:
The underlying mechanisms of papilledema associated with intracranial hypertension remain unclear. A case of bilateral papillary edema in a patient with chronic idiopathic intracranial hypertension who was asymptomatic during her two pregnancies is reported. Case Presentation. A 19-year-old Caucasian female, in her third month of pregnancy, complained of difficulties with close reading. The patient's visual acuity was 20/20 on the Snellen chart and improved with a 0.50 D correction in both eyes. Near vision and slit lamp examinations revealed normal findings bilaterally. However, a fundus examination showed bilateral papillary edema without evidence of hemorrhages or neovascularization. Blood tests were unremarkable, except for a slight increase in C-reactive protein levels. The patient had a prepregnancy weight of 63 kilograms, with a BMI of 24.91 kg/m2. Magnetic resonance imaging of the brain revealed features consistent with chronic idiopathic intracranial hypertension, which resolved after delivery. Two and a half years later, during a subsequent pregnancy, the patient experienced a recurrence of bilateral papillary edema due to the IIH. It was managed similarly as the first occurrence, resulting in bilateral anatomical and functional recovery. Recent research revealed that, during pregnancy, hormones interact with the central nervous system, leading to an increase in the size of neurons which could potentially result in intracranial hypertension.
Conclusions:
The influence of hormonal fluctuations during pregnancy on the development of transient central nervous system abnormalities in individuals with chronic intracranial hypertension, leading to papillary edema, remains a matter of debate.
Choroidal eye metastases from (recurrent) primary peritoneal carcinoma: case report and review of the literature
Authors: Nikolaos Thomakos, Khandra Galaal, Georgios Georgopoulos, Lakshmi Nagaraju, Dianne Hemming, Raj Naik
Journal: Int Semin Surg Oncol (2009)

Background:
Choroidal metastases from gynaecological primary are extremely rare. There is no documented case in the literature of choroid metastasis in a patient with primary peritoneal carcinoma (PPC).
Methods & results:
We describe the first case of a 54-year-old woman with a history of borderline mucinous tumour who presented 17 months later with PPC and 21 months after with recurrent disease metastatic to the eye, and review pertinent literature.
Conclusion:
High index of suspicion is warranted when patients with history of primary peritoneal carcinoma present with visual complaints in order to treat and/or relieve symptomatology from metastatic eye disease.
Gastric Xylobezoar Treated with Continuous Enteral Coca-Cola® Infusion
Authors: Gopinathan Gangadharan Nambiar, Eyad Hanna, Julia Shelton, Rose Lee
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Xylobezoar is a rare clinical condition in which undigested paper becomes trapped in the gastrointestinal tract causing varying degrees of gastrointestinal obstruction. This condition can be suspected in children with a history of gastric surgeries, decreased gastrointestinal motility, or pica. Xylobezoar presents with symptoms ranging from chronic abdominal pain to gastrointestinal perforation. Surgical intervention is often required as endoscopic removal is challenging and not always successful. Chemical dissolution has been shown to be effective in treating certain bezoars. Here, we report a case of a pediatric patient with xylobezoar who was successfully treated with continuous enteral Coca-Cola® infusion.
Case report: Acute liver failure in children and the human herpes virus 6-? A factor in the recent epidemic
Authors: Suz Warner, Rachel M Brown, Gary M Reynolds, Zania Stamataki, Deirdre A Kelly
Journal: Front Pediatr (2023)
Keywords: acute liver failure, and liver transplant, hepatitis, human herpes virus 6 (hhv-6), pediatric
MeSH terms: Case Reports

The 2022 worldwide epidemic of acute hepatitis and liver failure in young children has led to a focus on unusual causes for childhood acute hepatitis. In the UK epidemic, human herpes virus subtype 6B (HHV-6B) was detected along with adenovirus subtype-41F in severely affected children, especially in those requiring liver transplantation (LT). The lifting of COVID lock-down measures has coincided with the rise in these common childhood infections with a higher than expected rate of systemic complications. The sudden exposure of young children to common childhood infections from which they were protected during the pandemic may have induced an abnormal immune mediated response potentiated by multiple pathogen exposure. Primary HHV-6 infection is one such common childhood infection. Classically known as Roseola infantum due to the appearance of a widespread erythematous rash on fever subsidence (exanthema subitem), it has a peak incidence of 6-12 months of age and almost all children will have been infected by age 2. It is the virus most frequently associated with febrile convulsions but the more serious complications of hepatitis and liver failure are rare. We report on the historic cases of three female infants who had suspected primary HHV-6B infection, acute hepatitis and rapid progression to acute liver failure (ALF) requiring LT. Appearances of their native liver were identical to those described in children in the recent hepatitis epidemic. Deteriorating clinical trajectories of recurrent graft hepatitis and rejection-like episodes followed and all three succumbed to graft failure with HHV-6B detected posthumously in their liver allografts. Our case series and the serious complications observed with the recent rise in common childhood infections is a reminder that these routinely encountered pathogens can be deadly especially in the young immunologically untrained. We advocate for HHV-6 to be screened for routinely in children with acute hepatitis and the use of effective HHV-6 anti-viral prophylaxis to prevent recurrence post-transplant.
Completely Isolated Retroperitoneal Enteric Duplication Cyst with Adenocarcinoma Transformation Managed with Robotic Radical Nephrectomy
Authors: Kassem Faraj, Luke Edwards, Alia Gupta, Brian Seifman
Journal: J Endourol Case Rep (2017)
Keywords: adenocarcinoma, kidney, mucinous, nephrectomy, robotic
MeSH terms: Case Reports

Background: Enteric duplication cysts are congenital malformations that typically affect children in infancy, but can also affect adults. Rarely, these cysts can be complicated by malignancy. We present the first case of retroperitoneal duplication cyst that was complicated by malignancy transformation and managed by robot-assisted excision. Case presentation: A 64-year-old female with a history of a left-sided renal cyst presented with a 4-month history of abdominal pain and fatigue. MRI revealed a bilobed cyst, with components measuring 6.9 × 6.6 and 6.1 × 6.9 cm, which had grown since previous imaging, and hemorrhage in some portions of the cysts, as well as cystic wall enhancement, suggesting a possible malignancy. The patient consented to a robot-assisted partial (possible radical) nephrectomy. During the procedure, the cystic structure appeared to have grown since imaging, was intimately associated with the hilum, and had a complex vasculature, which prompted us to perform a radical nephrectomy. Grossly, the specimen consisted of a 14.8 cm cystic structure at the superior portion of the kidney, but was not contained within the renal parenchyma. Histologically, the internal mucosa of the cyst showed columnar epithelium with high-grade dysplasia and carcinoma in situ with focal individual cell infiltration into the superficial portion of the inferior part of the cyst. The patient saw a medical oncologist and was instructed to follow up with quarterly imaging to assess for disease progression. Conclusion: Enteric duplication cysts are uncommon entities that can occur in various locations in the body, causing a wide spectrum of symptoms, and are rarely complicated by malignancy transformation. Robot-assisted surgical resection is an option that we have shown to be effective in managing these patients.
Gastric outlet obstruction secondary to solid-pseudopapillary neoplasm of the pancreas in an eight year old child. Report of a case
Authors: Rick Bidassek, Herbert Spelter, Daniel Gödde, Hubert Zirngibl, Peter C Ambe
Journal: Diagn Pathol (2016)
MeSH terms: Gastric Outlet Obstruction / etiology, Neoplasms, Cystic, Mucinous, and Serous / complications, Pancreatic Neoplasms / complications, Case Reports, Biomarkers, Tumor / analysis, Biopsy, Child, Endosonography, Female, Gastric Outlet Obstruction / diagnosis, Humans, Immunohistochemistry, Magnetic Resonance Imaging, Neoplasms, Cystic, Mucinous, and Serous / chemistry, Neoplasms, Cystic, Mucinous, and Serous / pathology, Neoplasms, Cystic, Mucinous, and Serous / surgery, Pancreatectomy, Pancreatic Neoplasms / chemistry, Pancreatic Neoplasms / pathology, Pancreatic Neoplasms / surgery, Treatment Outcome, Biomarkers, Tumor

Background:
Solid pseudopapillary neoplasm is a rare cystic tumor of the exocrine pancreas. Abdominal pain or discomfort is the most common symptom, usually in young females.
Case presentation:
Herein we report the case of an 8 - year old child presenting with symptoms of gastric outlet obstruction.
Conclusion:
A solid pseudopapillary neoplasm of the pancreatic caput was diagnosed and surgically removed.
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy
Authors: Paul S Kruszka, Brian Kirmse, Dina J Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L Van Hove, Kimberly A Chapman
Journal: Mol Genet Metab Rep (2014)
Keywords: non-ketotic hyperglycinemia, propionic acidemia
MeSH terms: Case Reports

This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been placed on ketogenic diet, he became lethargic and had severe metabolic acidosis with ketonuria. Urine organic acid analysis and plasma acylcarnitine profile were consistent with propionic acidemia. He was found to have an apparently homozygous mutation in the PCCB gene: c.49C>A; p.Leu17Met. The patient was also treated with natural protein restriction, carnitine, biotin, and thiamine and had subjective and biochemical improvement.
Multidisciplinary Approach to Rehabilitation after Tumor Resective Jaw Surgery: A 9-Year Follow-Up
Authors: Igor Smojver, Marko Vuletić, Spomenka Manojlović, Dragana Gabrić
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

A 36-year-old male patient presented at the Department of Maxillofacial Surgery, University Hospital Clinic Zagreb in December 2010 due to a swelling of the left body of the mandible that was noticed 4 months earlier. The patient was referred regarding an atypical clinical and radiological finding in the form of a multicystic appearance in the corpus of the left mandible and teeth mobility in the same region. A probatory biopsy was performed under local anesthesia and sent for histopathologic examination which reported odontogenic myxoma. The tumor was removed with a marginal resection of the mandible from the left first incisor to the left second molar. Two years after surgery, in January 2013, the patient was referred to the oral surgeons for implant-prosthodontic rehabilitation. Two narrow implants were placed at positions 32 and 36, and three months afterwards, implant-retained denture was made using locator connections to compensate lost teeth and to correct the ratio of soft tissues and facial contours. The patient was followed-up for 9 years without any functional and aesthetic problems. Loosing function and aesthetic morbidity, after radical surgical treatment, often have compromised the quality of life of this group of patients. It is important to highlight the need for multidisciplinary collaboration for the complete rehabilitation of the patient after surgical oncology of the maxillofacial region.
Clinical presentation vs endoscopy for an early diagnosis of eosinophilic esophagitis: a case report
Authors: Michele Di Stefano, Giacomo Grandi, Vera Bonaso, Elisabetta Pagani, Gino Roberto Corazza, Antonio Di Sabatino
Journal: EXCLI J (2022)
Keywords: dysphagia, eosinophilic esophagitis, esophageal dysphagia, esophageal eosinophilia
MeSH terms: Case Reports

Eosinophilic esophagitis (EoE) is a type-2 mediated, chronic inflammatory disease showing an increase of both incidence and prevalence. Early diagnosis is mandatory, to prevent fibrostenotic complication of the disease. Due to the low sensitivity of the classic endoscopic features of the disease, a strong clinical suspicion should drive the decision to collect mucosal biopsies of the esophagus. We describe the case of an atopic patient suffering from dysphagia with normal esophageal mucosa and frank histological hallmarks of the disease.
Angiosarcoma of the scalp
Authors: Manjiri Das Gupta, Nilay Chakrabarti, Pravin Agrawal, Swati Narurkar
Journal: Indian J Plast Surg (2009)
MeSH terms: Case Reports

Angiosarcoma is a relatively rare soft tissue tumour. It usually occurs in the head and neck, and especially in the scalp, in elderly people. Its presentation varies from a small plaque to multifocal nodules. The treatment depends on the extent of the disease. Most cases are treated with wide excision with reconstruction. Radiotherapy and chemotherapy are advocated in the recurrent or extensive lesions with regional or distant metastasis. Other modalities such as immunomodulation have been tried. A case of a 55-year-old female patient with a bleeding scalp lesion is presented. Initially thought to be a pyogenic granuloma, on excisional biopsy it was diagnosed as angiosarcoma with microscopic involvement of the margins. Wide excision with reconstruction using a local rotation flap was done at a second stage. The patient was not given postoperative radiotherapy or chemotherapy. There has been no recurrence for two years.
Mitomycin-C-Induced TTP/HUS Treated Successfully with Rituximab: Case Report and Review of the Literature
Authors: Gunjan Shah, Hanah Yamin, Hedy Smith
Journal: Case Rep Hematol (2013)

Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, renal failure, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Etiologies can include medications, infections, cancers, or transplantation. We present a patient with a history of rectal cancer treated with mitomycin-C who developed MAHA, acute kidney injury, and thrombocytopenia 6 months after completing therapy and to did not respond the plasmapheresis or steroids. She was treated with four weekly doses of rituximab with full recovery.