OpenMed/multicare-articles huggingface dataset:
Laryngeal giant cell tumor: a case report and review of the literature
Authors: Jumpei Nota, Yoshihisa Okochi, Futoshi Watanabe, Tadahiko Saiki
Journal: Case Rep Otolaryngol (2014)

Giant cell tumor (GCT) is a benign neoplasm arising most commonly in the long bones. GCTs of the larynx (GCTL) are relatively rare, and only individual case reports are documented in the literature. Patients with such tumors may present with hoarseness and anterior neck swelling. We present a 59-year-old man with hoarseness and enlarging anterior neck mass for 3 months. A fiberscopy revealed a submucosal swelling of the left subglottic trachea. Computed tomography and magnetic resonance imaging of the larynx demonstrated a large, well-defined, inhomogeneous enhancing mass at the left thyroid cartilage, which was obstructed entirely. The anterior neck mass was biopsied for histopathological analysis, which showed multinodularity with intervening vascularized connective tissues. The mass was made up of mononuclear cells and distributed multinucleated giant cells. The mitotic activity of the mononuclear cells was as high as 6 per 10 high-power fields. Pathologic consultation resulted in a diagnosis of giant cell tumor. The patient underwent total laryngectomy and, postoperatively, he did well without recurrence or metastasis for two and a half years.
Sentinel events in ophthalmology: experience from Hong Kong
Authors: Shiu Ting Mak
Journal: J Ophthalmol (2015)

Purpose. To arouse ophthalmologists' awareness in patient safety by reviewing sentinel events in Ophthalmology submitted to a web-based incident reporting system involving all public hospitals in Hong Kong. Methods. Sentinel events in Ophthalmology reported from November 2007 to October 2014 were identified and classified into different categories for further presentation and analysis. Key contributing factors attributing to the occurrence of the incidents were described. Suggestions aiming to prevent future occurrence of similar events were made. Relevant literature and case law were discussed. Results. Twelve sentinel events were included in this observational case series. They were classified into 4 main categories, namely "wrong eye" (5 cases, 41%), "wrong prescription" (3 cases, 25%), "wrong patient and surgery" (2 cases, 17%), and "retained surgical items" (2 cases, 17%). The key contributing factor leading to the occurrence of the incidents was largely human error. Increased staff awareness and proper time-out procedures were recommended to help prevent occurrence of these errors. Conclusion. Sentinel events in Ophthalmology do occur. Many of these incidents were attributed to human error. Surgeon's awareness and willingness to prevent occurrence of sentinel events are warranted.
Surdity in the OR: An Unusual Case of Brainstem Anesthesia
Authors: Howard D Palte, Don P Hoa, Aldo Pavon Canseco
Journal: Case Rep Anesthesiol (2017)
MeSH terms: Case Reports

Brainstem anesthesia is a potentially life-threatening complication of regional ophthalmic anesthesia. This case report chronicles an unusual presentation of brainstem anesthesia following an eye block. The unique features of this case were the presenting symptoms of deafness and slurred speech in the absence of loss of consciousness, respiratory depression, or contralateral ophthalmoplegia. This report underscores two key points: first, the importance of ongoing patient monitoring after performance of an eye block; second, the exigency of supportive therapy in suspected cases of brainstem anesthesia.
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
Authors: Samuel Bloor, Dinesh Giri, Mohammed Didi, Senthil Senniappan
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks' gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height < 2.5 SD). MRI of the pituitary gland revealed a small anterior pituitary. She has multiple dysmorphic features: anteverted nares, small upturned nose, hypertelorism, slight frontal bossing, short proximal bones, hypermobile joints, and downslanting palpebral fissures. Whole exome sequencing (WES) was performed on the genomic DNA from the patient and biological mother. A heterozygous mutation in B3GAT3 (c.888+262T>G) in the invariant "GT" splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.
Paracolpium Leiomyoma Misdiagnosed as Endometriosis: Case Report and Surgical Technique of a Laparoscopic Approach
Authors: Nilton de Nadai Filho, Claudio Peixoto Crispi Junior, Marlon de Freitas Fonseca
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

A 36-year-old Caucasian, nulliparous patient sought care at a private gynecology clinic after 6 months of attempting to conceive. During the initial consultation, the patient reported severe dysmenorrhea and deep dyspareunia. During the gynecological examination, a nodule in the left lateral vaginal fornix was palpable. The MRI showed a hypointense nodular lesion in the left paracolpium described as an endometriosis nodule. Laparoscopic resection of the nodule was indicated. The patient showed improvement in symptoms after surgical treatment. This case report describes the technique for laparoscopic approach to paracolpium tumors.
Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants
Authors: Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-En Yao, Xiumin Wang
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: rna-seq, diabetes mellitus, dilated cardiomyopathy, encephalatrophy, genetic variation, paediatrics
MeSH terms: Diabetes Mellitus, Type 1, Case Reports, Research Support, Non-U.S. Gov't, Base Sequence, Child, Exome Sequencing, Exons, Humans, Male, Phenotype

Background:

WFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penetrance present challenges for accurate diagnosis and genetic counselling.
Methods:
Three probands and one elder brother from three families were systematically evaluated and the clinical data of other family members were collected from the medical history. Whole-exome sequencing was performed on the probands, and RNA sequencing was performed on four patients, their parents with WFS1 variants, and four gender- and age-matched children with type 1 diabetes mellitus.
Results:
There were six patients with diabetes. Dilated cardiomyopathy, a rare manifestation of WFS1-related disease, was identified in one patient, along with MRI findings of brain atrophy at age 7 years and 3 months, the earliest age of discovery we know of. Whole-exome sequencing revealed five pathogenic or likely pathogenic variants in the WFS1 gene, including c.1348dupC (p.His450Profs*93), c.1381A>C (p.Thr461pro), c.1329C>G (p.Ser443Arg), c.2081delA (p.Glu694Glyfs*16), c.1350-1356delinsGCA (p.His450Glnfs*26), of which 3 variants (c.1348dupC, c.2081delA, c.1350-1356delinsGCA) were novel that have not been previously reported. The differentially expressed genes were mainly associated with immune-related pathways according to the Gene Ontology enrichment analysis of the RNA sequencing data. The exon 1 region of HLA-DRB1 in two patients was not transcribed, while the transcription of the region in their parents was normal.
Conclusion:
This study emphasizes the clinical and genetic heterogeneity in patients, even in the same family with WFS1 variants. MRI evaluation of the brain should be considered when WFS1-related disorder is first diagnosed.
Massive Osteolysis in a Modern Total Knee Prosthesis
Authors: Emmanuel Gibon, Jacquelyn A Knapik, Hari K Parvataneni
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Case:
An 82-year-old woman underwent right total knee replacement with a sequentially irradiated and annealed highly cross-linked polyethylene insert. At 9 years, she was found to have a massive femoral osteolysis with an impending fracture.
Conclusion:
This case demonstrates a rare occurrence of massive femoral osteolysis, requiring revision surgery, with a sequentially irradiated and annealed highly cross-linked polyethylene.
Cholecystitis with abdominal wall biloma after percutaneous transhepatic gallbladder aspiration: A case report
Authors: Kenichiro Toritani, Mitsutaka Sugita, Akiko Shimizu, Akira Watanabe, Hidetaka Andrew Ono, Hiroyuki Baba
Journal: Int J Surg Case Rep (2020)
Keywords: abdominal wall biloma, case report, cholecystitis, ptgba
MeSH terms: Case Reports

Background:
Abdominal wall biloma is an uncommon entity. We herein report an extremely rare case of cholecystitis with abdominal wall biloma after percutaneous transhepatic gallbladder aspiration (PTGBA).
Presentation of case:
A 69-year-old woman was diagnosed with acute cholecystitis, and PTGBA was performed on Day 1. PTGBA was performed a second time because of re-expansion of the gallbladder and an increased CRP level on Day 3. Computed tomography was performed on Day 9 because we suspected recurrence of cholecystitis. It revealed a well-circumscribed fluid collection between the abdominal wall or the diaphragm and the liver. Based on these intraoperative findings, we diagnosed her with cholecystitis with abdominal wall biloma. Cholecystectomy and drainage of the abdominal wall biloma were performed on Day 10. The postoperative course was uneventful, and she was discharged on Day 18.
Discussion:
Early cholecystectomy is the gold-standard treatment for acute cholecystitis, but cholecystectomy is not performed in some cases. PTGBA is much more convenient, quicker, and less costly, but inappropriate aspiration during the second PTGBA session might have spread the infected bile to the abdominal wall through the PTGBA route.
Conclusion:
This case represents the first reported case of a biloma within the abdominal wall after PTGBA. To prevent this complication, we should aspirate gallbladder bile sufficiently during PTGBA. In addition, we should consider performing alternative therapy, such as percutaneous transhepatic gallbladder drainage or an operation, when we fail to appropriately aspirate.
Diagnosis of Asymptomatic Biliary Ascariasis by Abdominal Ultrasound in a Non-Endemic Area
Authors: Carolina Silva, Inês C Gonçalves, Sara Neves, Diana C Ferreira, Sofia R Valdoleiros
Journal: Cureus (2023)
Keywords: ascariasis, asymptomatic infections, diagnostic imaging, gallbladder, parasitology
MeSH terms: Case Reports

Biliary ascariasis is rare in non-endemic areas. This infection is associated with severe complications of the biliary tract, which can become a medical emergency. Treatment with oral anthelmintics is often effective, but, in some cases, surgery is required. We describe an unusual case of ultrasound diagnosis of biliary ascariasis in the gallbladder in a patient who, besides residing in a low-prevalence area of the infection, did not present with biliary tract manifestations. We intend to raise awareness of this clinical entity in non-endemic areas, where this diagnosis is not usually considered. A brief review of the subject is also presented.
Clinical Implications for the Timely Diagnosis of Mycobacterium marinum in the Age of Biologic Therapy: A Case Report and Review of the Literature
Authors: Chris J Lata, Kelle Edgar, Stephen Vaughan
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Mycobacterium marinum infections typically present as cutaneous nodular lesions with a sporotrichoid lymphatic spread on extensor surfaces of extremities. The natural history of this infection can be altered if the host is immunosuppressed, leading to disseminated presentations. A detailed exposure history and high degree of suspicion for this indolent pathogen are often required for the correct diagnosis of this disease. We present a case of a 67-year-old male misdiagnosed with seronegative rheumatoid arthritis presenting with rheumatic nodules. Initiation of chronic immunosuppressant therapy including biologic monoclonal antibodies resulted in the exacerbation of initially localized disease to broadly disseminated lymphatic, joint, and myotendinous granulomatous disease and led to delay in the correct diagnosis. Cessation of immunosuppressants, with a prolonged course of antimicrobial therapy and multiple surgical debridements were required for cure.
Case Report: Superior Vena Cava Resection and Reconstruction for Invasive Thyroid Cancer: Report of Three Cases and Literature Review
Authors: Wenjie Chen, Jianyong Lei, Yichao Wang, Xiaojun Tang, Bin Liu, Zhihui Li, Qinghua Zhou
Journal: Front Surg (2021)
Keywords: case report, superior vena cava reconstruction, superior vena cava syndrome, thyroid cancer, tumor thrombus, vein to vein bypasses support
MeSH terms: Case Reports

Background: Thyroid cancer with massive invasion into the cervical and mediastinal great veins is extremely rare, and the surgical treatment is controversial, thus posing a great challenge for head and neck surgeons. Here, we report our successful experiences in reconstructing the superior vena cava (SVC) system to treat thyroid cancer with an extensive tumor thrombus growing intraluminally into the SVC. Case Presentation: From September 2019 to September 2020, three patients with superior vena cava syndrome(SVCS) caused by tumor thrombus invasion from thyroid cancer were continuously included in this series. After preoperative evaluation, radical resection and reconstruction of the SVC system with expanded polytetrafluoroethylene (EPTFE) grafts were performed. In addition, bypass support from the right internal jugular vein to the right femoral vein was routinely prepared intraoperatively to prevent a rise in central venous pressure (CVP). Postoperatively, SVC-related syndrome improved immediately after the operation. Imaging examination showed good function of the reconstructed venous system. The patients recovered well with no surgical complications and remain under continuous follow-up. Conclusions: Tumor growth into the SVC does not seem to be an absolute contraindication for surgery for thyroid carcinoma. Comprehensive treatment, including reconstruction of the SVC, is effective for relieving symptoms and preventing disease progression and is thus worth advocating. In addition, bypass support from the internal jugular vein to the femoral vein is easy to implement and can improve the safety of the operation.
Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
Authors: XiuShan Ge, CuiJie Wei, Hui Dong, YueHua Zhang, XinHua Bao, Ye Wu, DanYu Song, HongJun Hao, Hui Xiong
Journal: Front Pediatr (2022)
Keywords: acetylcholine receptor, juvenile, muscle-specific receptor tyrosine kinase, myasthenia gravis, rituximab
MeSH terms: Case Reports

Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presence of both antibodies in the serum of patients with myasthenia gravis has been rarely reported. Case description: A 9-year-old girl was admitted to our hospital with the chief complaints of reduced facial expression for 3 months and unclear speech and choking from drinking water for 2 months. The diagnosis of generalized myasthenia gravis was made based on clinical manifestations, repetitive electrical nerve stimulation, neostigmine tests, specific antibody tests and other auxiliary examinations. We found the rare coexistence of two key antibodies (anti-AChR and anti-MuSK antibodies) in the patient's serum. The patient experienced myasthenic crisis and received respiratory support even though she was taking prednisone therapy. Due to the poor response to treatment with pyridostigmine bromide, glucocorticoids and IVIG, we administered rituximab therapy, and she responded well and achieved clinical remission. This suggests that clinicians should pay more attention to atypical cases and antibody detection. Rituximab should be considered when conventional treatment fails.
Use of Doxycycline in a Patient following Minocycline-Induced Lupus
Authors: Katherine Quinn Newman, Charles Guy Castles
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Minocycline, a tetracycline antibiotic, is commonly used to treat rosacea and acne vulgaris. A rare adverse reaction of minocycline use is the development of drug-induced lupus. Fortunately, most patients recover from minocycline-induced lupus (MIL) after the drug is discontinued. However, many patients, after recovering from MIL, may desire further treatment for their acne and may consider doxycycline, a close relative of minocycline. Though no cases of doxycycline-induced lupus have been reported, there is little guidance in the medical literature as to whether doxycycline poses a particular risk to patients who have recovered from MIL. We report the long-term follow-up of a patient who recovered from MIL (the diagnosis satisfying clinical and laboratory criteria) and was treated for 8 years with various forms of doxycycline without any untoward effects, suggesting that, at least in some cases, doxycycline can be used safely following MIL.
A case of esophageal carcinoma due to esophageal squamous papillomatosis
Authors: E Fraga, J Almeida, C Camacho, J Simões, A Bernardes
Journal: Int J Surg Case Rep (2020)
Keywords: esophageal papilloma, esophageal papillomatosis, esophagogastroduodenoscopies, ivor-lewis esophagectomy, squamous cell carcinoma
MeSH terms: Case Reports

Introduction:
Squamous Papilloma is a rare benign tumor of the esophagus. Esophageal squamous papilloma is thought to arise from a chronic inflammatory reaction due to mechanical or chemical irritant. ESP is usually considered to have a benign clinical course; however, some reports highlight the potential development of a malignancy. The development of extensive esophageal squamous papillomas also known as squamous papillomatosis of the esophagus is even less frequent.
Presentation of the case:
We present the case of an esophageal papillomatosis that developed into an invasive esophageal squamous cell carcinoma that was only diagnosed in the surgical specimen after minimally invasive Ivor-Lewis esophagectomy and in this case report, we discuss its etiology, diagnosis and treatment.
Conclusion:
Extensive papillomatosis with continuous symptoms, especially persistent dysphagia, should always prompt a thorough analysis into a possible underlying malignancy.
Reversible Cortical Blindness as a Prominent Manifestation of Cerebral Embolism due to Infective Endocarditis
Authors: Georgios P Kranidiotis, Alexandra N Gougoutsi, Theodoros A Retsas, Maria I Anastasiou-Nana
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Introduction. Infective endocarditis in the left heart may be complicated by stroke, due to embolisation from infectious valvular vegetations. Infarction of both occipital lobes, which are supplied by the posterior cerebral arteries, is infrequent, and is the cause of cortical blindness from lesion of the visual cortex. Cortical blindness is characterized by intact pupillary reflexes, a normal fundoscopy, and, rarely, denial of visual loss. Case Presentation. We report the case of a 58-year-old woman, recipient of a mechanical aortic valve, who presented with fever, multiple organ dysfunction, and cortical blindness. Transesophageal echocardiography and blood cultures confirmed the diagnosis of infective endocarditis caused by methicillin-sensitive Staphylococcus aureus. Computed tomography of the brain without contrast revealed the presence of infarctions in both occipital lobes. It is noteworthy that the visual loss resolved after treatment of endocarditis. Conclusions. A stroke occurring in a patient presenting with fever and a history of valvular heart disease strongly suggests the presence of infective endocarditis. Bilateral thromboembolic infarcts of the occipital lobes cause cortical blindness, that can resolve after treatment of endocarditis.
Laparoscopic treatment of large bowel obstruction due to a self-locating peritoneal dialysis catheter
Authors: Tamara Díaz Vico, José Luis Rodicio Miravalles, Emilio Sánchez Álvarez, María Moreno Gijón, Amaya Rizzo Ramos, Estrella Olga Turienzo Santos, Lourdes Sanz Álvarez
Journal: Int J Surg Case Rep (2018)
Keywords: case report, catheter, intestinal obstruction, laparoscopic approach, peritoneal dialysis

Introduction:
Peritoneal dialysis has been used in the treatment of end-stage renal disease for a long time. The development of continuous ambulatory peritoneal dialysis (CAPD) has achieved an acceptable device of renal replacement therapy.
Presentation of case:
We report a 55 year-old patient who was initiated on CAPD in February 2016. Three months later, the Tenckhoff catheter was removed due to its malfunction, and a new self-locating peritoneal dialysis catheter was placed in the left side of the abdomen. In September 2016, the patient presented with symptoms of intestinal obstruction. A CT scan revealed a collapsed sigmoid colon with the tungsten tip of the catheter supported on the mesosigmoid as the cause of the occlusion.
Discussion:
Herein, a rare but clinically important case of mechanical large bowel obstruction due to self-locating peritoneal dialysis catheter is presented. The weight added to the tip of the self-locating catheter for the purpose of stretching it, can be dangerous if a displacement takes place. A laparoscopic procedure was performed, resolving the obstruction by reinserting the peritoneal catheter in its right position.
Conclusion:
The weight added to the tip of self-locating catheters is a matter of concern, since intimate contact between the peritoneal catheter and the intestinal wall can result in perforation or intestinal occlusion.
A Rare Case of Monophasic Synovial Sarcoma of Thoracic Vertebra
Authors: Sana Najib, Tahmina Saleem, Ali Nadhim, Shuvendu Sen
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Synovial sarcoma of spine is an extremely rare malignancy with poor prognosis. It is often metastatic at the time of presentation. Its relative rarity and histological resemblance to other tumors make it diagnostically challenging, requiring the need of immunohistochemistry and cytogenetics for definite diagnosis. Surgery is the mainstay of therapy with adjunct chemotherapy, although survival rates are very low.
Cervical Spinal Meningeal Melanocytoma Presenting as Intracranial Superficial Siderosis
Authors: Savitha Srirama Jayamma, Seema Sud, Tbs Buxi, V S Madan, Ashish Goyal, Shashi Dhawan
Journal: Case Rep Radiol (2015)

Meningeal melanocytoma is a rare pigmented tumor of the leptomeningeal melanocytes. This rare entity results in diagnostic difficulty in imaging unless clinical and histopathology correlation is performed. In this case report, we describe a case of meningeal melanocytoma of the cervical region presenting with superficial siderosis. Extensive neuroradiological examination is necessary to locate the source of the bleeding in such patients. Usually, the patient will be cured by the complete surgical excision of the lesion.