OpenMed/multicare-articles huggingface dataset:
Ovarian juvenile granulosa cell tumors with Ollier's disease in children with IDH1 gene somatic mutation
Authors: Jin Zhang, Renwu Hua, Lishuang Ma, Chao Liu, Yanxia Zhang, Xuemin Lü, Tianren Wang, Naijun Wan
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: idh1, ollier’s disease, children, gene, juvenile granulosa cell tumors, ovarian
MeSH terms: Enchondromatosis / genetics, Granulosa Cell Tumor / genetics, Granulosa Cell Tumor / pathology, Case Reports, Child, Child, Preschool, Estradiol, Female, HeLa Cells, Humans, Isocitrate Dehydrogenase, Prolactin, Retrospective Studies, Ribosomal Proteins, Prolactin, Ribosomal Proteins, Estradiol, IDH1 protein, human, Isocitrate Dehydrogenase, Granulosa cell tumor of the ovary

Objective:
The aim of this study was to explore the symptoms, treatment, and pathogenesis of ovarian juvenile granulosa cell tumors with Ollier's disease in children.
Methods:
From October 2019 to October 2020, clinical data were retrospectively analyzed for one case of ovarian juvenile granulosa cell tumors with Ollier's disease. Whole-exome sequencing and Sanger sequencing were used to detect gene mutation in ovarian tumor and chondroma tissue. NADP-dependent isocitrate dehydrogenase-1 (IDH1) and S6 ribosomal protein expression levels in cells transfected with wild-type or mutant plasmid were analyzed by Western blot.
Results:
The 4-year-old female showed multiple skeletal deformities, bilateral breast development with chromatosis, and vulvar discharge. Sex hormone assay suggested that estradiol and prolactin were elevated, and the x-ray of limbs suggested enchondroma. Pelvic ultrasound and abdominal CT revealed a right ovarian solid mass. Pathologic examination of the right ovarian solid mass showed a juvenile granulosa cell type. A c.394C>T (p. Arg132Cys) mutation of the IDH1 gene was detected in both the ovarian juvenile granulosa cell tumors and enchondroma. Transfection of HeLa cells with either WT or Mut plasmid caused 4.46- or 3.77-fold overexpression of IDH1 gene compared to non-transfected control cells, respectively. R132C mutation inhibited the phosphorylation of S6 ribosomal protein, which is central to the mTOR pathway. Postoperatively, estradiol and prolactin levels fell to values normal for her age and bilateral breast gradual retraction.
Conclusion:
The incidence of ovarian juvenile granulosa cell tumors with Ollier's disease in children may be caused by generalized mesodermal dysplasia; IDH1 gene mutation may play a facilitated role in this process. Surgical operation is the main treatment. We suggest that patients with ovarian juvenile granulosa cell tumors and Ollier's disease should undergo regular investigation.
Pure Laparoscopic Left Hemihepatectomy for Hepatic Peribiliary Cysts with Biliary Intraepithelial Neoplasia
Authors: Akira Umemura, Takayuki Suto, Akira Sasaki, Hiroyuki Nitta, Seika Nakamura, Fumitaka Endo, Kazuho Harada, Kazuyuki Ishida
Journal: Case Rep Surg (2016)

Introduction. Hepatic peribiliary cysts (HPCs) usually originate due to the cystic dilatation of the intrahepatic extramural peribiliary glands. We describe our rare experience of pure laparoscopic left hemihepatectomy (PLLH) in a patient with HPCs accompanied by a component of biliary intraepithelial neoplasia (BilIN). Case Presentation. A 65-year-old man was referred for further investigation of mild hepatic dysfunction. Contrast-enhanced computed tomography showed dilatation of the left-sided intrahepatic bile duct, and biliary cytology showed class III cells. The patient was highly suspected of having left side-dominated cholangiocarcinoma and underwent PLLH. Microscopic findings revealed multiple cystic dilatations of the extramural peribiliary glands; hence, this lesion was diagnosed as HPCs. The resected intrahepatic bile duct showed that the normal ductal lumen comprised low columnar epithelia; however, front formation on the BilIN was observed in some parts of the intrahepatic bile duct, indicating that the BilIN coexisted with HPCs. Conclusion. We chose surgical therapy for this patient owing to the presence of some features of biliary malignancy. We employed noble PLLH as a minimally invasive procedure for this patient.
Invasive Orbital Squamous Cell Carcinoma in a Patient with Multiple Myeloma
Authors: Narges Karrabi, Kiana Hassanpour, Noushin Afshar Moghaddam, Faezeh Khorasanizadeh, Sadid Hooshmandi, Amirreza Veisi
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Background:
Orbital squamous cell carcinoma (SCC) is a rare entity. It is often a result of local invasion of SCC originating from the skin, nasopharynx, nasal cavity, paranasal sinuses, conjunctiva, lacrimal glands, or sac or less commonly occurs through hematogenous metastasis. Herein, we report a patient with orbital SCC with a history of multiple myeloma (MM). Case presentation. A 45-year-old woman with a history of MM in the past two years presented to our clinic complaining of gradual right eye proptosis for six months. The relative afferent pupillary defect was detected in the right eye on her examination. Ocular movements of the right eye were limited in all directions. Orbital magnetic resonance imaging demonstrated an infiltrative mass in the right orbit extended from the anterior to the orbital apex and the optic canal. The patient underwent debulking, and a histopathology examination revealed SCC results. No other secondary site was found to be the origin of the tumor.
Result:
The patient underwent chemotherapy and subsequent radiotherapy. To our knowledge, this is the first report of concomitant MM and primary orbital SCC.
Long Term Outcome and Histologic Findings of a Retinal Astrocytic Hamartoma Treated with Intravitreal Injection of Anti-VEGF: A Case Report
Authors: Kinza T Ahmad, Hana A Mansour, Benjamin T Rollins, Sergio Pina Oviedo, Paul H Phillips, Sami H Uwaydat
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Background:
To our knowledge, this is the first report to describe the histologic changes of a retinal astrocytic hamartoma (RAH) in a patient with tuberous sclerosis complex (TSC) treated with antivascular endothelial growth factor (anti-VEGF), as well as the longest anti-VEGF treatment that such a patient has received (3 years). Case Presentation. We present a case of a 20-year-old female with TSC who developed progressive growth of a papillary astrocytic hamartoma that caused significant retinal edema, vitreous hemorrhage, and neovascular glaucoma. The patient was initially treated with 25 intravitreal anti-VEGF injections about every 1-3 months, but eventually developed a blind painful eye from neovascular glaucoma. Histopathologic evaluation of the enucleated globe showed a peculiar difference of the tumor according to its topography, with features reminiscent of pilocytic astrocytoma at the optic nerve head and features reminiscent of subependymal giant cell astrocytoma at the retrolaminar optic nerve. We hypothesize that these changes occurred as a secondary effect of the anti-VEGF treatment.
Conclusions:
Anti-VEGF agents may decrease the ophthalmologic complications of RAH. We recommend that this treatment should be started early and continued for a protracted time at regular and frequent intervals. Moreover, a combination of therapies might prove to be superior to monotherapy and should therefore be considered in aggressive retinal astrocytic hamartomas.
Acute Fulminant Myocarditis After ChAdOx1 nCoV-19 Vaccine: A Case Report and Literature Review
Authors: Chia-Tung Wu, Shy-Chyi Chin, Pao-Hsien Chu
Journal: Front Cardiovasc Med (2022)
Keywords: covid-19, chadox1, adenovirus, myocarditis, vaccine
MeSH terms: Case Reports

According to recent literatures, myocarditis is an uncommon side effect of mRNA vaccines against COVID-19. On the other hand, myocarditis after adenovirus based vaccine is rarely reported. Here we report a middle-aged healthy female who had acute fulminant perimyocarditis onset 2 days after the first dose of ChAdOx1 vaccine (AstraZeneca) without any other identified etiology. Detailed clinical presentation, serial ECGs, cardiac MRI, and laboratory data were included in the report. Possible mechanisms of acute myocarditis after adenoviral vaccine was reviewed and discussed. To our knowledge, a few cases of myocarditis after Ad26.COV2.S vaccine were reported, and this is the first case report after ChAdOx1 vaccine.
Bouveret syndrome-the rarest variant of gallstone ileus: a case report and literature review
Authors: Vasileios K Mavroeidis, Dimitrios I Matthioudakis, Nikolaos K Economou, Ioannis D Karanikas
Journal: Case Rep Surg (2013)

We present a case report of a patient with Bouveret syndrome with interesting radiological findings and successful surgical treatment after failure of the endoscopic techniques. The report is followed by a review of the literature regarding the diagnostic means and proper treatment of this rare entity. Bouveret syndrome refers to the condition of gastric outlet obstruction caused by the impaction of a large gallstone into the duodenum after passage through a cholecystoduodenal fistula. Many endoscopic and surgical techniques have been described in the management of this syndrome. This is a case of a 78-year-old patient with severe medical history who presented in bad general condition with an 8-day history of nausea, multiple bilious vomiting episodes, anorexia, discomfort in the right hypochondrium and epigastrium, and fever up to 38,5°C. The diagnosis of Bouveret syndrome was set after performing the proper imaging studies. An initial endoscopic effort to resolve the obstruction was performed without success. Surgical treatment managed to extract the impacted gallstone through an enterotomy after removal into the first part of the jejunum.
Perioperative management of a bleeding jejunal tumor in a patient with erythropoietic protoporphyria: A case report and literature review
Authors: Yuki Takemoto, Shoichiro Mukai, Tetsuya Mochizuki, Masatoshi Kochi, Hiroyuki Egi, Hideki Ohdan
Journal: Int J Surg Case Rep (2019)
Keywords: anesthesia, erythropoietic protoporphyria, hemin, surgery

Introduction:
Erythropoietic protoporphyria (EPP) is a rare disorder caused by reduced ferrochelatase activity and shows incomplete autosomal dominant inheritance. Meticulous perioperative management can avoid characteristic complications. This report describes a case of a bleeding jejunal tumor in a patient with EPP.
Presentation of case:
A 49-year-old man with a history of EPP was admitted to our department with abdominal distention and severe anemia. Contrast-enhanced computed tomography revealed an abdominal tumor measuring 5 cm, originating from the small bowel wall or mesentery. Tumor resection was planned after correction of anemia. Red blood cell transfusion restored his hemoglobin to acceptable levels; however, his liver function worsened. Institution of liver support therapy achieved gradual reduction in his elevated liver enzymes; however, hyperbilirubinemia persisted. He underwent tumor resection on the 12th day of hospitalization. Yellow filters were used to avoid operating room light-induced tissue injury. The tumor was located in the jejunum 30 cm from the Treitz ligament toward the anal aspect. The histopathological diagnosis was desmoid-type fibromatosis of the jejunum. Postoperatively, his hemoglobin levels were stabilized; however, his serum bilirubin level remained high. His serum bilirubin level gradually decreased following hemin injections (150 mg/day).
Discussion:
Reducing heme synthesis and minimizing protoporphyrin generation are important perioperatively. Additionally, preventing operating room light-induced tissue burns and selecting appropriate anesthestic agents are important during surgery.
Conclusion:
The institution of appropriate treatment and adequate intra- and perioperative measures can ensure safe surgery in patients with EPP even under emergency conditions.
Small bowel-small bowel intussusception with high grade obstruction due to intramural submucosal ileal hamartoma in a 5-year-old child: A case report
Authors: Federico Scorletti, Kevin Bove, Rebeccah L Brown
Journal: Int J Surg Case Rep (2019)

Introduction:
Intussusception is a common cause of emergency in children. We report a unusual case of intestinal obstruction due to small bowel-small bowel intussusception with an intestinal hamartoma as the lead point.
Presentation of the case:
A 5 year old boy presented to the ED with worsening abdominal pain, emesis and bloody diarrhea. An abdominal radiograph showed evidence of small bowel obstruction and US confirmed a small bowel-small bowel intussusception with a likely cystic mass as the lead point. Given these findings, surgery was performed and revealed an intestinal hamartoma as a lead point.
Discussion:
Intussusception in children is mostly idiopathic and usually amenable to reduction by air enema. The presence of a lead point is unusual and usually requires surgical intervention.
Conclusion:
We report an unusual case of intussusception with small bowel obstruction due to intestinal hamartoma, a rare pathologic finding as a lead point for intussusception. Ultrasound was useful for diagnosing the intussusception and confirming the presence of a lead point.
An anatomical study of arcuate foramen and its clinical implications: a case report
Authors: Salman Afsharpour, Kathryn T Hoiriis, R Bruce Fox, Samuel Demons
Journal: Chiropr Man Therap (2016)
Keywords: arcuate foramen, c1 dorsal arch, vertebral artery

Background:
The objective of this paper is to describe the relationship of the vertebral artery (VA) to the Atlas (C1) in the sub-occipital region in the presence of arcuate foramen; and discuss the clinical implications related to manual therapies and surgical implications related to screw placement. This study is an anatomical cadaveric case report of symmetrical bilateral lateral and dorsal arcuate foramina on the C1 dorsal arch.
Case presentation:
Out of 40 cadavers that were available for use in teaching anatomy in the university setting, three presented with anomalies of the C1 dorsal arch. The sub-occipital regions were skillfully prosected to preserve related structures, especially VAs, sub-occipital and greater occipital nerves. Visual observations, photographs, measurements, and radiographic examinations were performed between January 15, 2014 and August 25, 2014. One cadaver (Specimen A) presented with complete bilateral ossified arcuate foramina, and two presented with partial ossification of the atlanto-occipital membrane. Specimen A presented the bilateral anomaly which is almost symmetrical. The VAs were found passing through double foramina (lateral and dorsal) on each side.
Conclusions:
Arcuate foramina have been shown to be commonly found anomalies with highly variable shapes and sizes, even in the same individual with a bilateral condition. This study found a rare type of the anomaly associated with the C1 dorsal arch, which protected the VA against manual pressure. However, VA, in this case, would be more susceptible to dissection. The presence of the arcuate foramen would also complicate screw placement during surgery. Clinical pre-screening for signs of vertebrobasilar insufficiency is important for chiropractic and manual therapies.
Sjögren's syndrome and acquired splenic atrophy with septic shock: a case report
Authors: Natacha Santos, Rui Silva, Joana Rodrigues, José Torres-Costa
Journal: J Med Case Rep (2014)

Introduction:
The most frequent causes of adult-onset recurrent infections are human immunodeficiency virus infection, malignancy, and autoimmune diseases, while acquired non-surgical hyposplenism is rare. Although acquired asplenia/hyposplenism have been described in association with celiac disease and, less frequently, with autoimmune diseases such as Sjögren's syndrome, the manifestations in this context are usually only detectable in the laboratory setting, with Howell-Jolly bodies or thrombocytosis. To the best of our knowledge, no previous case of pneumococcal septic shock in a patient with acquired hyposplenism and co-morbid Sjögren's syndrome has been reported.
Case presentation:
We report a case of a 45-year-old Caucasian woman who developed pneumococcal pneumonia at age 42 years, pneumococcal meningitis at age 44 years and septic shock with Streptococcus agalactiae bacteremia at age 45 years and was subsequently diagnosed with radiological splenic atrophy and functional asplenia, as well as primary Sjögren's syndrome. After appropriate immunizations, the patient has been free from clinically important infections.
Conclusion:
Hyposplenism should be suspected in patients with adult-onset infections caused by encapsulated bacteria, especially if autoantibodies are present. Early diagnosis can help prevent potentially life-threatening infections. Possible associations between splenic atrophy and Sjögren's syndrome are discussed.
Transition from intravenous to enteral ketamine for treatment of nonconvulsive status epilepticus
Authors: Michael A Pizzi, Prasuna Kamireddi, William O Tatum, Jerry J Shih, Daniel A Jackson, William D Freeman
Journal: J Intensive Care (2017)
Keywords: enteral ketamine, intravenous ketamine, nonconvulsive status epilepticus, refractory status epilepticus, seizures
MeSH terms: Case Reports

Background:
Nonconvulsive status epilepticus (NCSE) is a diagnosis that is often challenging and one that may progress to refractory NCSE. Ketamine is a noncompetitive N-methyl-d-aspartate antagonist that increasingly has been used to treat refractory status epilepticus. Current Neurocritical Care Society guidelines recommend intravenous (IV) ketamine infusion as an alternative treatment for refractory status epilepticus in adults. On the other hand, enteral ketamine use in NCSE has been reported in only 6 cases (1 adult and 5 pediatric) in the literature to date.
Case presentation:
A 33-year-old woman with a history of poorly controlled epilepsy presented with generalized tonic-clonic seizures, followed by recurrent focal seizures that evolved into NCSE. This immediately recurred within 24 h of a prior episode of NCSE that was treated with IV ketamine. Considering her previous response, she was started again on an IV ketamine infusion, which successfully terminated NCSE. This time, enteral ketamine was gradually introduced while weaning off the IV formulation. Treatment with enteral ketamine was continued for 6 months and then tapered off. There was no recurrence of NCSE or seizures and no adverse events noted during the course of treatment.
Conclusion:
This case supports the use of enteral ketamine as a potential adjunct to IV ketamine in the treatment of NCSE, especially in cases without coma. Introduction of enteral ketamine may reduce seizure recurrence, duration of stay in ICU, and morbidity associated with intubation.
Short-Term Outcomes of KeraSys Patch Graft for Glaucoma Drainage Devices: A Case Series
Authors: Kundandeep S Nagi, Ricardo J Cumba, Nicholas P Bell, Lauren S Blieden, Alice Z Chuang, Kimberly A Mankiewicz, Donna Nguyen, Robert M Feldman
Journal: J Ophthalmol (2013)

Purpose. Tube-related exposure is a known complication of glaucoma drainage device (GDD) surgery. Our objective is to report the early (approximately 1 year) tube exposure rate of implants covered with a keraSys (IOP Inc., Costa Mesa, CA, USA) tissue reinforcement graft. Patients and Methods. A retrospective, noncomparative, consecutive case series of 42 eyes with GDD implantation with keraSys patch grafts was performed. Main outcome measurements included patch-related complications: patch exposure, tube exposure, wound dehiscence, and patch migration. Results. Forty-two eyes were followed for an average of 15.24 ± 10.44 months (range 1.0-32.3 months). Four (10%) eyes experienced patch-related complications: two with exposure 8 months postoperatively, one with exposure 13 months postoperatively, and one with exposure 4 weeks postoperatively. Conclusion. The effectiveness of the keraSys patch graft is limited by the higher than expected early exposure rate found in this case series. These results should be confirmed in other studies.
Cervical and endometrial cancers of intestinal origin diagnosed 18 years after vaginal replacement with a sigmoid colon segment: a case report and review of the literature
Authors: Xiao-Fei Sun, Xin-Xin Miao, Bao-Xuan Li, Yu Wang
Journal: Front Oncol (2022)
Keywords: adenocarcinoma, neovagina, sigmoid colon neovagina, sigmoid colpoplasty, vaginal agenesis
MeSH terms: Review

Background:
Sigmoid colpoplasty is a surgical method for the treatment of vagina agenesis. Malignant tumors of neovaginas derived from sigmoid colons are rare.
Case presentation:
We report a 33-year-old woman who underwent sigmoid colpoplasty for vaginal agenesis and presented 18 years later with vaginal bleeding. Examination revealed cancer of the neovagina with involvement of the cervix and endometrium. The patient was administered four cycles of chemotherapy because she refused surgery.
Conclusions:
Patients with a history of colpoplasty should undergo long-term comprehensive testing after reconstruction, including regular gynecological, colposcopic, and gastrointestinal examinations. In patients with cancer of the neovagina, a comprehensive treatment plan should be developed in consultation with gynecologists and surgeons. There is no standard treatment, although surgery plus chemotherapy or radiotherapy appears to be effective.
Implantation metastasis from sigmoid colon cancer to rectal anastomosis proved by whole exome sequencing and lineage inference for cancer heterogeneity and evolution analysis: Case report and literature review
Authors: Guan Yu Yu, Xian Hua Gao, Li Jian Xia, De Bin Sun, Tao Liu, Wei Zhang
Journal: Front Oncol (2022)
Keywords: anastomosis, colorectal cancer, implantation metastasis, procedure for prolapse and hemorrhoids, suture line, whole exome sequencing
MeSH terms: Case Reports

It was estimated that 70% of patients with colorectal cancer were found to have viable exfoliated malignant cells in adjacent intestinal lumen. Exfoliated malignant cells had been reported to implant on raw surfaces, such as polypectomy site, anal fissure, anal fistula, hemorrhoidectomy wound, and anastomotic suture line. Tumors at anastomosis could be classified into four groups: local recurrence, local manifestation of widespread metastasis, metachronous carcinogenesis, and implantation metastasis. However, all of the previous studies only reported the phenomena of implantation metastasis at anastomosis. No study had proved the origin of anastomotic metastasis by genomic analysis. In this study, a 43-year-old woman presented with persistent hematochezia was diagnosed as having severe mixed hemorrhoids. She was treated by procedure for prolapse and hemorrhoids (PPH), without receiving preoperative colonoscopy. Two months later, she was found to have sigmoid colon cancer by colonoscopy due to continuous hematochezia and received radical sigmoidectomy. Postoperative histological examination confirmed the lesion to be a moderately differentiated adenocarcinoma (pT3N1M0). Six months later, she presented with hematochezia again and colonoscopy revealed two tumors at the rectal anastomosis of PPH. Both tumors were confirmed to be moderately differentiated adenocarcinoma without lymph node and distant metastasis and were finally removed by transanal endoscopic microsurgery (TEM). Pathological examination, whole exome sequencing (WES), and Lineage Inference for Cancer Heterogeneity and Evolution (LICHeE) analysis demonstrated that the two tumors at the rectal anastomosis were probably implantation metastases arising from the previous sigmoid colon cancer. This is the first study to prove implantation metastasis from colon cancer to a distal anastomosis by WES and LICHeE analysis. Therefore, it is recommended to rule out colorectal cancer in proximal large bowel before performing surgery with a rectal anastomosis, such as PPH and anterior resection. For patients with a suspected implanted tumor, WES and LICHeE could be used to differentiate implantation metastasis from metachronous carcinogenesis.