OpenMed/multicare-articles huggingface dataset:
Application of the rapid prototyping technique to design a customized temporomandibular joint used to treat temporomandibular ankylosis
Authors: Suresh M Chaware, Vaibhav Bagaria, Abhay Kuthe
Journal: Indian J Plast Surg (2009)

Anthropometric variations in humans make it difficult to replace a temporomandibular joint (TMJ), successfully using a standard "one-size-fits-all" prosthesis. The case report presents a unique concept of total TMJ replacement with customized and modified TMJ prosthesis, which is cost-effective and provides the best fit for the patient. The process involved in designing and modifications over the existing prosthesis are also described. A 12-year- old female who presented for treatment of left unilateral TMJ ankylosis underwent the surgery for total TMJ replacement. A three-dimensional computed tomography (CT) scan suggested features of bony ankylosis of left TMJ. CT images were converted to a sterolithographic model using CAD software and a rapid prototyping machine. A process of rapid manufacturing was then used to manufacture the customized prosthesis. Postoperative recovery was uneventful, with an improvement in mouth opening of 3.5 cm and painless jaw movements. Three years postsurgery, the patient is pain-free, has a mouth opening of about 4.0 cm and enjoys a normal diet. The postoperative radiographs concur with the excellent clinical results. The use of CAD/CAM technique to design the custom-made prosthesis, using orthopaedically proven structural materials, significantly improves the predictability and success rates of TMJ replacement surgery.
Mesenchymal hamartoma mimicking hepatoblastoma
Authors: A Bahador, B Geramizadeh, M Rezazadehkermani, S Moslemi
Journal: Int J Organ Transplant Med (2014)
Keywords: alpha-fetoprotein, hepatoblastoma, liver tumor, mesenchymal hamartoma
MeSH terms: Case Reports

Mesenchymal hamartoma and hepatoblastoma are common causes of hepatic masses in pediatric population; they have similar radiologic and pathologic features. Herein, we present a case of mesenchymal hamartoma that was preoperatively diagnosed as hepatoblastoma. The mass was completely resected instead of being treated with preoperative chemotherapy. Postoperative pathological evaluation revealed mesenchymal hamartoma with free margins; the patient incidentally received the standard treatment. If we would have measured serum AFP in our patient, we could make the correct diagnosis preoperatively, because AFP increases largely in hepatoblastoma. When suspicious exists, serum AFP is a good guide in differentiating hepatoblastoma from mesenchymal hamartoma.
A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period
Authors: Su Nam Lee, Gee-Hee Kim, Ki-Dong Yoo
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and premature death. Cardiac involvement includes left ventricular hypertrophy, arrhythmia, endothelial dysfunction at vascular wall, and cardiomyopathy. The diagnosis of FD can be difficult and there is often a long lag time between symptoms and diagnosis. Here, we present a case of a 50-year-old woman with typical Fabry disease who showed serial electrocardiographic and echocardiographic changes over 17 years prior to diagnosis with Fabry disease.
Widefield Optical Coherence Tomography in Pediatric Retina: A Case Series of Intraoperative Applications Using a Prototype Handheld Device
Authors: Thanh-Tin P Nguyen, Shuibin Ni, Guangru Liang, Shanjida Khan, Xiang Wei, Alison Skalet, Susan Ostmo, Michael F Chiang, Yali Jia, David Huang, Yifan Jian, J Peter Campbell
Journal: Front Med (Lausanne) (2022)
Keywords: handheld optical coherence tomography, optical coherence tomography, optical coherence tomography with angiography, pediatric retina, retina

Optical coherence tomography (OCT) has changed the standard of care for diagnosis and management of macular diseases in adults. Current commercially available OCT systems, including handheld OCT for pediatric use, have a relatively narrow field of view (FOV), which has limited the potential application of OCT to retinal diseases with primarily peripheral pathology, including many of the most common pediatric retinal conditions. More broadly, diagnosis of all types of retinal detachment (exudative, tractional, and rhegmatogenous) may be improved with OCT-based assessment of retinal breaks, identification of proliferative vitreoretinopathy (PVR) membranes, and the pattern of subretinal fluid. Intraocular tumors both benign and malignant often occur outside of the central macula and may be associated with exudation, subretinal and intraretinal fluid, and vitreoretinal traction. The development of wider field OCT systems thus has the potential to improve the diagnosis and management of myriad diseases in both adult and pediatric retina. In this paper, we present a case series of pediatric patients with complex vitreoretinal pathology undergoing examinations under anesthesia (EUA) using a portable widefield (WF) swept-source (SS)-OCT device.
Relearning the lesson -- amelanotic malignant melanoma: a case report
Authors: Ezekiel Oburu, Alberto Gregori
Journal: J Med Case Rep (2008)

Although not as common as the other melanomas, amelanotic melanoma often evades diagnosis by masquerading as other pathology. A high index of suspicion is therefore required for early and appropriate intervention. We present a patient who was diagnosed and managed as having paronychia of the middle finger while in actual fact he had a subungual amelanotic melanoma. By the time of his referral to the orthopaedic team it had progressed to an advanced stage. Our case underlies the importance of early recognition and referral of this rare but malignant lesion by primary care physicians.
Development of Compartment Syndrome after Radial Artery Puncture in a Patient with Acute Hypoxemic Respiratory Failure due to COVID-19
Authors: Orlando Garner, Krishidhar Nunna, Andrea Braun
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

A 71-year-old man who was recently hospitalized for COVID-19 pneumonia complicated by acute hypoxemic respiratory failure and severe ARDS requiring noninvasive ventilation was transferred to our hospital from a rehabilitation facility for new onset right wrist and hand pain and swelling which had been attributed to arterial thrombosis and empirically treated with therapeutic anticoagulation. He developed numbness and paralysis in his right hand and was diagnosed with right forearm compartment syndrome requiring emergent fasciotomy. After a prolonged hospital stay complicated by respiratory failure requiring mechanical ventilation, he was discharged with improved, but not resolved, sensorimotor deficits. Arterial blood gas sampling is commonly performed in patients with acute hypoxemic respiratory failure, for assessment of oxygenation and acid-base status. It is considered a benign procedure, but it can lead to serious complications, such as bleeding and compartment syndrome. Risks and benefits of any procedure need to be weighed carefully and less is often more. Compartment syndrome is characterized by the 5 P's-pain, pallor, paresthesia, pulselessness, and paralysis.
Tracheal adenoid cystic carcinoma masquerading asthma: a case report
Authors: Nurdan Kokturk, Sedat Demircan, Cuneyt Kurul, Haluk Turktas
Journal: BMC Pulm Med (2004)

Background:
Tracheal tumors are often misdiagnosed as asthma and are treated with inhaled steroids and bronchodilators without resolution.
Case presentation:
Here, a patient with tracheal adenoid cystic carcinoma who had been previously diagnosed with difficult asthma was reported. The possibility of the presence of localized airway obstruction was raised when the flow-volume curve suggesting fixed airway obstruction, was obtained.
Conclusion:
The presenting case report emphasizes the fact that not all wheezes are asthma. It is critical to bear in mind that if a patient does not respond to appropriate anti-asthma therapy, localized obstructions should be ruled out before establishing the diagnosis of asthma.
A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report
Authors: Yanling Ying, Shifang Yu, Jingjing Zhang, Ji He, Xianguo Xu, Xiaozhen Hong, Faming Zhu
Journal: Front Genet (2023)
Keywords: mcleod syndrome, xk gene, case report, genotyping, nonsense variation
MeSH terms: Case Reports

McLeod syndrome is a rare XK gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male Chinese patient with McLeod syndrome. He first attended a hospital in 2015 and developed progressively worsening symptoms 4 years ago. As the disease progressed, the patient exhibited memory loss, unresponsiveness, and chorea and displayed elevated creatine kinase levels. However, McLeod syndrome could not be diagnosed by these signs and laboratory results. The patient was readmitted to the hospital in 2020 and was suspected of having McLeod syndrome. Serological analysis of the Kell blood group system and genotyping for the XK blood group system were performed, revealing the weak expression of the K antigen and the negative K antigen. Sequencing of the coding region of the XK gene showed a hemizygous c.942G>A variation in the XK gene, which resulted in a premature stop codon at position 314 (p.Trp314Ter). Therefore, the patient was diagnosed with McLeod syndrome. In conclusion, this paper presents a case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene. The analysis of the XK gene and blood group antigen is helpful for the diagnosis of McLeod syndrome and for distinguishing it from many other diseases.
Accessory nipple over the right scapula of a 14-year-old boy: An extremely rare and unreported location, case report
Authors: Ayad Ahmad Mohammed
Journal: Int J Surg Case Rep (2019)
Keywords: accessory nipple, ectopic breast, embryonic milk line, polymastia, polythelia, supernumerary nipple

Introduction:
Accessory or supernumerary nipples can be applied when more than 2 breasts present in human beings. Usually they are seen in the embryonic milk line; however, their presence outside this line is extremely rare. A 14-year-old boy presented to the surgical consultation room complaining from a round brown skin lesion over the right shoulder area, there were no symptoms associated with this lesion but the family was worried about it. During examination the lesion was diagnosed on the basis of clinical examination and appearance as a supernumerary nipple located over the right scapula. This is an extremely rare location, and no case has been reported before. The family was reassured about the diagnosis that this condition is congenital and the patient discharged with no specific treatment.
Conclusion:
Accessory nipple is not uncommon, and may present in some rare locations. The main work up should be reassurance of the patient about the diagnosis, and most patients need no intervention however it may be removed for cosmetic concerns, if enlarge in size, or associated with any symptom.
A rare case of vulvar extraskeletal myxoid chondrosarcoma: mimics and diagnostic clues
Authors: Sofia S Liou, Sanaz Memarzadeh, Sarah M Dry, Rondell P Graham, Neda A Moatamed
Journal: Autops Case Rep (2021)
Keywords: chondrosarcoma, extraskeletal myxoid, ewsr1, fish, nr4a3, vulva
MeSH terms: Case Reports

Only 14 cases of extraskeletal myxoid chondrosarcoma (EMC) of the vulva have been documented in the literature. We report a case of a 63-year-old woman with EMC of the vulva confirmed by both EWSR1 and NR4A3 fluorescence in situ hybridization, the latter of which is a more specific probe for this entity. The unusual location of this tumor of prominent myxoid morphology gave rise to a wide differential diagnosis, which necessitated thorough histologic evaluation and confirmatory ancillary testing in the form of immunohistochemistry and cytogenetic studies. This article aims to review extraskeletal myxoid chondrosarcoma of the vulva and various diagnostic clues to help differentiate it from its histologic mimics. This is the fifth case of vulvar EMC in the literature with confirmation of a NR4A3 gene rearrangement.
A young woman with traumatic vertebral artery occlusion: a case report
Authors: Amir Ghaffarzad, Reza Javadrashid, Elyar Sadeghi-Hokmabadi, Reza Jamal Arvanaghi, Hassan Soleimanpour, Samad Ej Golzari
Journal: J Cardiovasc Thorac Res (2018)
Keywords: emergency department, trauma, vertebral artery
MeSH terms: Case Reports

Vertebral artery occlusion (VAO) may result from closed head or neck trauma and can be lifethreatening due to brain-stem and cerebellar infarction. CT angiography is recommended as a screening diagnostic tool in selected patients after blunt cervical trauma. A 24-year-old woman was admitted to our emergency department with left hemiplegia two days after motor vehicle collision. Final diagnosis of occlusion of the right vertebral artery was made in CT angiography. She was treated with anticoagulant for 4 days then discharged with 5/5 muscle forces. She was advised to continue warfarin and atorvastatin for her after discharge.
Postoperative Apical Ballooning Syndrome Following Orthotopic Liver Transplantation
Authors: Osamah Z Badwan, Osama Abu-Shawer, Aritra Paul, Michael Faulx, Benico Barzilai
Journal: Cureus (2023)
Keywords: apical ballooning syndrome, cardiomyopathy, orthotropic liver transplant, post-op complications, takotsubo cardiomyopathy (ttc)
MeSH terms: Case Reports

As the mainstay of therapy for end-stage liver disease (ESLD), orthotopic liver transplantation (OLT) has complex effects on multiple organ systems. We present a representative case of acute heart failure with apical ballooning syndrome following OLT and review its mechanisms. Recognition of this and other potential cardiovascular and hemodynamic complications of OLT are essential to periprocedural anesthesia management. Once an acute phase of the condition is stabilized, conservative treatment and resolution of physical or emotional stressors usually allow for rapid resolution of symptoms, typically recovering systolic ventricular function within one to three weeks.
Management of post cholecystectomy Mirizzi's syndrome
Authors: Simon Janes, L Berry, B Dijkstra
Journal: J Minim Access Surg (2005)
Keywords: mirizzi syndrome, cystic duct remnant, retained calculus
MeSH terms: Case Reports

Various strategies have been proposed for the management of retained calculi within the biliary tree following cholecystectomy. We present a unique case of a cystic duct remnant calculus causing Mirizzi syndrome, only the fourth such case of its kind. An open procedure was planned, however the calculus was eventually extracted endoscopically. The pathophysiology and management of Mirizzi syndrome and retained calculi within the cystic duct remnant are discussed along with the merits of a minimally invasive approach.
Surgery for a gastric Dieulafoy's lesion reveals an occult bleeding jejunal diverticulum. A case report
Authors: G Orlando, I M Luppino, R Gervasi, M A Lerose, B Amato, R Spagnuolo, R Marasco, P Doldo, A Puzziello
Journal: BMC Surg (2012)
MeSH terms: Diverticulum / diagnosis, Gastrointestinal Hemorrhage / diagnosis, Incidental Findings, Jejunal Diseases / diagnosis, Stomach / blood supply, Vascular Malformations / surgery, Case Reports, Aged, Arterioles / abnormalities, Diverticulum / complications, Gastrointestinal Hemorrhage / complications, Humans, Jejunal Diseases / complications, Male, Stomach / pathology, Stomach / surgery, Vascular Malformations / complications

Background:
Jejunal diverticulosis is an uncommon disease and usually asymptomatic. It can be complicated not only by diverticulitis, but by hemorrhage, perforation, intussusception, volvulus, malabsorption and even small bowel obstruction due to enteroliths formed and expelled from these diverticula.
Methods:
We describe a case of an occult bleeding jejunal diverticulum, casually discovered in a patient that was taken to surgery for a Dieulafoy's lesion after unsuccessful endoscopic treatment. We performed a gastric resection together with an ileocecal resection.Macroscopic and microscopic examinations confirmed the gastric Dieulafoy's lesion and demonstrated the presence of another source of occult bleeding in asymptomatic jejunal diverticulum.
Discussion:
The current case emphasizes that some gastrointestinal bleeding lesions, although rare, can be multiple and result in potentially life-threatening bleeding. The clinician must be mindful to the possibility of multisite lesions and to the correlation between results of the investigations and clinical condition of the bleeding patient.
Case Report: A Case of Pituitary Carcinoma Treated With Sequential Dual Immunotherapy and Vascular Endothelial Growth Factor Inhibition Therapy
Authors: Lydia S Lamb, Hao-Wen Sim, Ann I McCormack
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: aggressive pituitary tumors, biomarker, combination therapy, immune checkpoint inhibitor, immunotherapy, pituitary carcinoma, vascular endothelial growth factor inhibitor
MeSH terms: Angiogenesis Inhibitors / therapeutic use, Immune Checkpoint Inhibitors / therapeutic use, Pituitary Neoplasms / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, Drug Therapy, Combination, ErbB Receptors / antagonists & inhibitors, Female, Humans, Pituitary Neoplasms / pathology, Prognosis, Angiogenesis Inhibitors, Immune Checkpoint Inhibitors, EGFR protein, human, ErbB Receptors

Aggressive pituitary tumors (APTs) are associated with significant morbidity and mortality, and effective treatment options are limited. Immune checkpoint inhibitors (ICIs) have revolutionized clinical cancer care; however, there is little experience with these agents in the management of APTs. Vascular endothelial growth factor (VEGF) targeted therapy has reported success in a small number of APT case reports. Here we describe a case of pituitary carcinoma responding to ICI therapy and subsequently VEGF inhibition. We discuss the possible mechanisms and experience with ICI therapy and VEGF inhibitors in the management of APTs, biomarkers that may predict response, and the potential role of combination therapies including ICIs and temozolomide.
Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
Authors: Mariia E Turkunova, Yury A Barbitoff, Elena A Serebryakova, Dmitrii E Polev, Olga S Berseneva, Elena B Bashnina, Vladislav S Baranov, Oleg S Glotov, Andrey S Glotov
Journal: Front Genet (2022)
Keywords: floating harbor syndrome, srcap, facial dysmorphisms, growth hormone therapy, short stature, whole-exome sequencing

Introduction: Floating Harbor syndrome (FHS) is an extremely rare disorder, with slightly more than a hundred cases reported worldwide. FHS is caused by heterozygous mutations in the SRCAP gene; however, little is known about the pathogenesis of FHS or the effectiveness of its treatment. Methods: Whole-exome sequencing (WES) was performed for the definitive molecular diagnosis of the disease. Identified variants were validated using Sanger sequencing. In addition, systematic literature and public data on genetic variation in SRCAP and the effects of growth hormone (GH) treatment was conducted. Results: We herein report the first case of FHS in the Russian Federation. The male proband presented with most of the typical phenotypic features of FHS, including short stature, skeletal and facial features, delayed growth and bone age, high pitched voice, and intellectual impairment. The proband also had partial growth hormone deficiency. We report the history of treatment of the proband with GH, which resulted in modest improvement in growth prior to puberty. WES revealed a pathogenic c.7466C>G (p.Ser2489*) mutation in the last exon of the FHS-linked SRCAP gene. A systematic literature review and analysis of available genetic variation datasets highlighted an unusual distribution of pathogenic variants in SRCAP and confirmed the lack of pathogenicity for variants outside of exons 33 and 34. Finally, we suggested a new model of FHS pathogenesis which provides possible basis for the dominant negative nature of FHS-causing mutations and explains limited effects of GH treatment in FHS. Conclusion: Our findings expand the number of reported FHS cases and provide new insights into disease genetics and the efficiency of GH therapy for FHS patients.
Fulminant Guillain-Barré Syndrome and Spontaneous Intraventricular Hemorrhage: A Case Report and Literature Review
Authors: Jun Hu, Xiaoqian Luo, Yu Wang, Eric Prado, Qinghui Fu, Anwen Shao
Journal: Front Neurosci (2020)
Keywords: guillain–barré syndrome, etiology, prognosis, review, spontaneous intraventricular hemorrhage

Guillain-Barré syndrome (GBS) is an acute, immune-mediated inflammatory peripheral polyneuropathy that is characterized by flaccid paralysis. A few cases have reported that GBS can be caused by head trauma or neurosurgery, but it has never been associated with intraventricular hemorrhage. Here, we report an uncommon case of fulminant GBS that occurred after spontaneous intraventricular hemorrhage. A 73-year-old woman was admitted to the hospital after sudden unconsciousness and vomiting. A head computed tomography (CT) scan following the incident showed a newly developed intraventricular hemorrhage, which led to an immediate ventriculostomy. After 5 days, the endotracheal tube was removed. Two days later, the external ventricular drainage tube was also removed. At this time, the patient was alert and the neurological examination was normal. However, the patient suddenly presented with acute respiratory failure and bilateral limb weakness 3 days later. An analysis of the patient's cerebrospinal fluid (CSF) revealed that albuminocytologic dissociation was present. The patient was treated with intravenous immunoglobulin (0.4 g/kg/day) for 5 days. Despite timely medical intervention in the hospital, the patient passed away 2 months later. After a cerebral hemorrhagic injury, limb and respiratory muscle weakness can occur on occasion in the ICU. In this context, the potential involvement of GBS should not be ignored. Importantly, the pathogenic mechanism of GBS has been discussed for over a century, and it still remains a mystery. We speculate that the TLR4/NF-κB signaling pathway may be involved in the pathogenesis of GBS following intraventricular hemorrhage. The prognosis of most patients with GBS is usually good, but cerebral hemorrhage and mechanical ventilation may serve as risk factors that exacerbate the condition. This case is reported to remind clinicians to consider the possibility of GBS when patients present limb and respiratory muscle weakness after intraventricular hemorrhage, and to provide a starting point to discuss potential mechanisms of GBS after intraventricular hemorrhage.