OpenMed/multicare-articles huggingface dataset:
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature
Authors: Valentina Mancioppi, Flavia Prodam, Simona Mellone, Roberta Ricotti, Enza Giglione, Nicolino Grasso, Denise Vurchio, Antonella Petri, Ivana Rabbone, Mara Giordano, Simonetta Bellone
Journal: Front Genet (2021)
Keywords: acan, aggrecans, mutation, osteoarthritis dissecans, short stature
MeSH terms: Case Reports

Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including heterozygous mutations in ACAN gene. It encodes for aggrecan, a primary proteoglycan component specific for the structure of the cartilage growth plate, articular and intervertebral disc. We report a novel ACAN heterozygous pathogenic variant in a family with idiopathic short stature, early-onset osteoarthritis and osteoarthritis dissecans (SSOAOD). We also performed a literature review summarizing the clinical characteristic of ACAN's patients. The probands are two Caucasian sisters with a family history of short stature and osteoarthritis dissecans. They showed dysmorphic features such as mild midface hypoplasia, brachydactyly and broad thumbs, especially the great toes. The same phenotype was presented in the mother who had had short stature and suffered from intervertebral disc disease. DNA sequencing identified a heterozygous pathogenic variation (c.4390delG p.Val1464Ter) in the sisters, with a maternal inheritance. The nonsense mutation, located on exon 12, results in premature truncation and presumed loss of protein function. In terms of treatment, our patients underwent recombinant human growth hormone replacement therapy, associated with gonadotropin releasing hormone therapy, in order to block early growth cessation and therefore reach a better final height. Our case suggests that SSOAOD ACAN related should be considered in the differential diagnosis of children with autosomal dominant short stature and family history of joints disease.
Heart Team Intervention for Calcified Left Main Coronary Disease and Jeopardized Left Internal Mammary Artery Graft
Authors: Nobunari Tomura, Masashi Fujino, Yu Kataoka, Shuichi Yoneda, Hiroaki Sasaki, Teruo Noguchi
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

It is sometimes difficult to identify the culprit lesion and treatment strategy in patients with acute coronary syndrome who have complex coronary lesions and jeopardized left internal mammary artery graft. This report describes a heart team approach for a non-ST-segment elevation myocardial infarction case with complex coronary vasculature. A 73-year-old man presented to the emergency department with crescendo angina. He had a history of total aortic arch replacement with concomitant coronary artery bypass graft using left internal mammary artery. Emergent coronary angiography demonstrated severe stenosis at left main trunk bifurcation caused by calcified nodule. While the bypass graft to left anterior descending coronary artery was patent, the proximal segment of left subclavian artery was occluded. Following the prompt discussion with our heart team, we performed percutaneous coronary intervention in the first step for treating the left main stenosis using rotational atherectomy into the unprotected left circumflex artery. After clinical recovery, stress myocardial scintigraphy identified the presence of anteroseptal ischemia, which indicated coronary subclavian steal syndrome due to left subclavian artery occlusion. Contrast-enhanced CT visualized that the occlusion originated from the anastomosis, suggesting the potential procedural risk of endovascular treatment by dilatation. Our heart team discussed again and decided to undergo axillo-axillary artery bypass surgery. He was discharged 8 days after the surgery without any sequelae. This is the rare case report of non-ST-segment elevation myocardial infarction who had similar condition to coronary subclavian steal syndrome after total aortic arch replacement. This case highlights the importance of a collaborative approach of the heart team to identify the best therapeutic strategy in a patient with complex coronary vasculature.
Skeletal Muscle Cysticercosis of the Calf: A Rare Case
Authors: Rekha Petkar, Sunil Panchabhai, Kapil V Gothwal, Bhavesh Mahajan, Kinjal Vasava
Journal: Cureus (2023)
Keywords: albendazole, cysticercosis, infectious disease, skeletal muscle, taenia solium
MeSH terms: Case Reports

Cysticercosis in humans is caused by larval cysts of the tapeworm Taenia solium. Any tissue in the human body can become infected by these larval cysts, but the central nervous system, skeletal muscles, subcutaneous tissues, and eyes are the most frequently affected. Muscle cysts are uncommon and typically do not present with any symptoms. In this study, we present a rare case of skeletal cysticercosis as a calf swelling and its management.
Rectal Bleeding and Abdominal Pain Following Vaccination in a 4-Month-Old Infant
Authors: Jaclyn Otero, Molly R Posa, Maria N Kelly
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Intussusception is one of the most frequent causes of intestinal obstruction in infants. Rotavirus vaccination has been associated with intussusception in the medical literature. We report a case of a 4-month-old female with intussusception requiring hemicolectomy one week following rotavirus vaccination. We review the pathophysiology, presentation, and management of intussusception with a distinct focus on the history of rotavirus vaccination and risks of intussusception associated with timing of rotavirus vaccine administration. The discussion makes a strong case for rotavirus vaccine counseling regarding signs of intestinal obstruction and the importance of early recognition.
Nasal cavity vascular leiomyoma: case report and literature review
Authors: Victor Eulalio Sousa Campelo, M C Neves, M Nakanishi, R L Voegels
Journal: Braz J Otorhinolaryngol (2008)
MeSH terms: Angiomyoma / diagnosis, Nasal Cavity, Nose Neoplasms / diagnosis, Case Reports, Review, Adult, Angiomyoma / surgery, Biopsy, Female, Humans, Nose Neoplasms / surgery, Tomography, X-Ray Computed

Liomyomas of the nasal cavity and paranasal sinuses are rare. They make up less than 1% of all leiomyomas in the human body. This is due to the paucity of smooth muscle in the nose. They are classified in three groups: leiomyoma, angiomyoma and epithelioid leiomyoma. Only 15 cases of vascular leiomyomas have been found in the literature. The treatment of choice is surgical excision. Hereby we present a new case and review the literature.
Nonfunctional double parathyroid carcinoma with incidental thyroid micropapillary carcinoma: a rare case
Authors: Kursat Dikmen, Hasan Bostanci, Huseyin Gobut, Alp Yildiz, Onur Ertunc, Ali Celik, Murat Akin, Ferit Taneri
Journal: Pan Afr Med J (2017)
Keywords: non-functional parathyroid carcinoma, double parathyroid carcinoma, thyroid papillary carcinoma
MeSH terms: Carcinoma, Papillary / diagnosis, Parathyroid Neoplasms / diagnosis, Thyroid Neoplasms / diagnosis, Case Reports, Carcinoma, Papillary / pathology, Carcinoma, Papillary / surgery, Dyspnea / etiology, Humans, Incidental Findings, Male, Middle Aged, Parathyroid Hormone / blood, Parathyroid Neoplasms / pathology, Parathyroid Neoplasms / surgery, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Parathyroid Hormone

Parathyroid carcinomas are rare endocrine tumors which comprise 0.3-5.6% of all causes of hyperparathyroidism. 90% of them are hormonally active, while 10% of them may be non-functional. They mostly occur in a single parathyroid gland. Concurrent involvement of both parathyroid glands is quite rare. A 57-year-old male patient was admitted to emergency department with the complaint of dyspnea. Thorax tomography revealed a retrosternal mass. The mass was thoracoscopically excised by thoracic surgeons. Histopathological examination result of the mass was reported as parathyroid carcinoma. Parathyroid scintigraphy performed and focal activity increase in the lower pole of the left lobe. Parathyroid hormone level was 118 pg/ml and calcium level was measured as 11.4 mg/dl. The patient with these findings was operated and pathological examination of excised left lower parathyroid tissue was reported as carcinoma. In addition, micropapillary carcinoma was detected in left thyroid lobectomy specimen.Our case was also unusual in that double parathyroid carcinoma, which is a rare condition, was hormonally inactive. We aimed to present our case in the light of the literature due to its rare occurrence.
Dental erosion from an excess of vitamin C
Authors: Priya Bahal, Serpil Djemal
Journal: Case Rep Dent (2014)

Acid erosion of enamel is the chemical dissolution of the superficial layers of teeth without the presence of bacteria. If the presence and exposure of a demineralising agent such as vitamin C is frequent and prolonged, it can lead to significant tooth wear. This case report discusses one such presentation and as a result of the occlusal relationship, this serves to effectively demonstrate the localised effects of vitamin C-induced acid erosion. The management of localised tooth wear with composite restorations utilising the Dahl principle to replace lost tooth tissue is also reported. Clinical Relevance. Patients should be made aware of the erosive nature of chewable vitamin C tablets and their potentially harmful effects on the dentition if consumed in excess. Objective Statement. The reader should understand the clinical implications of an excessive intake of vitamin C. This demonstrates the importance of the manufacturer's instructions and the clinician's role in advising patients with regard to the correct therapeutic doses.
Use of tunneled pleural catheters in chronic empyema: Two case reports and brief review of the literature
Authors: Ilana Roberts Krumm, Yaron B Gesthalter
Journal: Respir Med Case Rep (2022)
Keywords: empyema, pleural infection, pleuroscopy, tpc, tunneled pleural catheter, tunneled pleural catheter, vats, video-assisted thorascopic surgery
MeSH terms: Case Reports

The incidence of empyema is increasing worldwide, which, coupled with the aging global population, makes the non-surgical management of pleural space infections increasingly important. Despite this, there remains no consensus for management of chronic empyema in those patients who are not surgical candidates and do not get adequate source control with chest tube and intra-pleural lytic therapy, particularly for patients with non-expandable lungs. We reviewed the literature regarding non-surgical management of chronic empyema and present two cases that support the use of pleuroscopy in conjunction with tunneled pleural catheters for management of chronic empyema in non-surgical candidates.
Retroperitoneal mesothelial cyst misdiagnosed as a congenital choledochal cyst for an infant patient: A case report and literature review
Authors: Min Yang, Bo Xiang, Xiao-Long Xie, Ke-Wei Li, Fu-Yu Li
Journal: Int J Surg Case Rep (2020)
Keywords: congenital choledochal cyst, da vinci surgical system, infant, mesothelial cyst, misdiagnosis
MeSH terms: Case Reports

Introduction:
Mesothelial cyst (MC) is very uncommon in clinic, which could occasionally occur in peritoneal, retroperitoneal or even pleural cavity.
Presentation of case:
We hereby described an infant patient with retroperitoneal MC who was misdiagnosed as congenital choledochal cyst by both radiologists and clinicians. A choledochal cyst resection with hepatojejunostomy under the da Vinci surgical system was routinely prepared for this patient but a local resection for the whole lesion was unexpectedly performed during the operation. The diagnosis of retroperitoneal MC was confirmed by the pathological analysis from surgical specimens.
Discussion:
MC in small size is usually asymptomatic and sometimes detected by imaging examinations which manifests a well-boundary, watery-density and cystic lesion with no enhancement and is often misdiagnosed as lymphangioma or pancreatic pseudocyst. For pediatric patients, MC can occur in the diaphragm and liver in the literature, while retroperitoneal MC around hepatoduodenal ligament for an infant has never been mentioned before. We reported the first case of a retroperitoneal MC around hepatoduodenal ligament for an infant who was preoperatively misdiagnosed as choledochal cyst surgically treated by the da Vinci surgical system.
Conclusion:
Retroperitoneal MC around hepatoduodenal ligament should also be considered and resected for an infant.
Repair of Unstable Posterior Sternoclavicular Dislocation Using Nonabsorbable Tape Suture and Tension Band Technique: A Case Report with Good Results
Authors: Ekrem Aydın, Turan Cihan Dülgeroğlu, Ali Ateş, Hasan Metineren
Journal: Case Rep Orthop (2015)

Posterior sternoclavicular joint dislocation (PSCJD) is quite a rare condition. Nearly half of the closed reduction attempts fail due to various reasons. In this paper, we present a 25-year-old male patient who was admitted to the emergency department in our hospital after having a motor-vehicle accident. It was decided to do PSCJD after physical and imaging studies. Following necessary preparations, closed reduction was attempted with abduction-traction maneuver under general anesthesia; however, adequate stabilization could not be achieved and redislocation was detected during control. Therefore, joint was stabilized with tension band technique using 6 mm polyamide nonabsorbable type suture during open reduction. Painless and complete range of motion in shoulder was achieved at the postoperative 10th week.
Detection of incorrect manufacturer labelling of hip components
Authors: Matthieu Durand-Hill, Johann Henckel, Matthew Burwell, John Skinner, Alister Hart
Journal: Skeletal Radiol (2017)
Keywords: arthroplasty, computed tomography, hip, hip prosthesis, postoperative care, prostheses and implants, replacement, x-ray
MeSH terms: Arthroplasty, Replacement, Hip, Hip Prosthesis / adverse effects, Medical Errors, Product Labeling, Tomography, X-Ray Computed, Case Reports, Humans, Male, Middle Aged, Reoperation

We describe the case of a 53-year-old man who underwent a left metal-on-metal hip resurfacing in 2015. Component size mismatch (CSM) was suspected because of the patient's immediate post-operative mechanical symptoms and high metal ion levels. Surgical notes indicated the appropriate combinations of implants were used. However, we detected a mismatch using computed tomography. Revision was performed and subsequent measurements of explanted components confirmed the mismatch. To our knowledge, this case is the first report of a CT method being used in a patient to pre-operatively identify CSM.
Granulocyte Colony Stimulating Factor (G-CSF) Induced Splenic Infarction in Breast Cancer Patient Treated with Dose-Dense Chemotherapy Regimen
Authors: Majed A Alshamrani, Meteb Al-Foheidi, Ahmed H Abdulrahim
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Introduction:
Granulocyte colony-stimulating factor (G-CSF) is commonly used for prevention and treatment of febrile neutropenia among solid tumor patients. It is considered an effective and relatively safe supportive care medication; however, it can cause rare and serious side effects such as spleen rupture or infarction.
Case presentation:
We are reporting a case of a 27-year-old female with breast cancer who has been treated with dose-dense chemotherapy and received colony-stimulating factor as primary prevention of febrile neutropenia that was complicated halfway through with splenic infarction. This finding was confirmed by computed tomography (CT) scan and splenic biopsy. Management was conservative without the need of surgical intervention.
Conclusion:
Although splenic infarction is an extremely rare side effect of G-CSF, it can be a serious complication that should be recognized, monitored, and managed carefully.
Liver transplantation with a normothermic machine preserved fatty nonagenarian liver: A case report
Authors: Tommaso Maria Manzia, Luca Toti, Claudia Quaranta, Francesca Blasi, Giuseppe Tisone
Journal: Int J Surg Case Rep (2019)
Keywords: extended donor criteria, liver transplantation, normothermic machine perfusion

Introduction:
The use of organs from expanded criteria donors for Liver Transplantation (LT) represents a major challenge. In the current era of Normothermic Machine Perfusion (NMP), donor age boundaries are often overcome and may contribute to reduce the gap between supply and demand of organs suitable for transplantation. We report on a unique case of nonagenarian liver successfully transplanted after NMP.
Presentation of case:
A fatty previously declined liver graft from nonagenarian male brain death donor underwent NMP (OrganOx Metra®, UK, Oxford) perfusion at University of Rome Tor Vergata on April 2018. The histology assessment showed 15% macro and 35% micro vescicular steatosis. Liver fulfilled viability criteria after NMP and was thus transplanted. The recipient was a 53 years old male with hepatocellular carcinoma who underwent two previous trans-arterial chemo-embolization. The post-LT AST peak was 1556 U/L; post operative course was characterized by hepatic artery thrombosis that required re-laparotomy and successful thrombectomy. Recipient experienced biliary stricture three months after discharge successfully treated by endoscopic retrograde cholangiopancreatography. At 7 months of follow-up patient has good clinical status and graft function.
Discussion:
NMP represents a safe approach in order to increase the usage of very old fatty livers, that otherwise would be declined because of the high risk of primary non function and death.
Conclusion:
Nonagenarian liver recruitment after NMP seems to be feasible but a major attention is advisable on the manipulation and cannulation of hepatic artery in order to avoid intimal damage that can lead hepatic artery thrombosis.
Paravertebral extraskeletal myxoid chondrosarcoma: a case report and review of the literature
Authors: Fatima Zahra Farhane, Zineb Alami, Touria Bouhafa, Abderrahmane Elmazghi, Khalid Hassouni
Journal: Pan Afr Med J (2015)
Keywords: extraskleletal myxoid chondrosarcoma, malignant tumour, paravertebral
MeSH terms: Chondrosarcoma / diagnosis, Neoplasms, Connective and Soft Tissue / diagnosis, Case Reports, Review, Adult, Chondrosarcoma / pathology, Diagnosis, Differential, Female, Humans, Immunohistochemistry, Neoplasms, Connective and Soft Tissue / pathology, Chondrosarcoma, Extraskeletal Myxoid

The extraskeletal myxoid chondrosarcoma (CME) is a rare malignant soft tissue tumour described as a distinct clinical, histological, immunohistochemical, genetical and evolutive entity. It represents only 2.5% of soft tissue sarcomas. Its individualization is important because it has a long and indolent clinical course, and tumour-related death often occurs after a long survival period. The diagnostic key is morphological supported by immunohistochemistry and genetics t (9; 22) that allow differentiating it from other tumours with myxoid stroma and from chordoma. This report describes a patient with paravertebral extraskeletal myxoid chondrosrcoma with a high locoregional extension.
Cyclin D1 + large B-cell lymphoma with altered CCND1 and BCL-6 rearrangements: a diagnostic challenge
Authors: Da Gao, Zach Liu
Journal: Biomark Res (2019)
Keywords: bcl-6, ccnd1, cyclin d1, dlbcl, mcl
MeSH terms: Case Reports

Background:
A subset of diffuse large B-cell lymphoma may show aberrant cyclin D1 expression, which may be confused with blastoid mantle cell lymphoma. These cases usually lack of CCND1 gene rearrangement. Duplication of CCND1 gene was attributed to some of the cases with cyclin D1 expression. The mechanism of overexpression of CCND1 in other cases was not well documented.
Case presentation:
We report a case of diffuse large B-cell lymphoma with cyclin D1 expression. The underlying mechanism for cyclin D1 expression was due to an abnormal gene rearrangement involving BCL-6 and CCND1, which was different from most reported cases. Rare cases with similar genetic profile were reported and were classified as diffuse large B-cell lymphoma.
Conclusion:
The phenotype and genetic abnormalities of DLBCL with cyclin D1 overexpression can be complex and may be difficult to differentiate from blastoid and pleomorphic variants of mantle cell lymphoma.
Myeloid Disease with the CSF3R T618I Mutation after CLL
Authors: Maria Eduarda Couto, Susana Bizarro, Domingos Sousa, Nelson Domingues, Isabel Oliveira, Gabriela Martins, Manuel R Teixeira, Mário Mariz
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Chronic lymphocytic leukemia (CLL) is frequently an indolent diagnosis, with most of the patients being under surveillance for long time. There is an increased risk of a second neoplasia in CLL, rarely hematological (in the myeloid lineage is even rarer). A 58-year-old male was diagnosed with CLL in 2012, remaining in regular surveillance until 2014. Then, the CLL progressed, and 6 cycles of rituximab, fludarabine, and cyclophosphamide were prescribed with partial response. He remained in surveillance and suffered 2 episodes of autoimmune hemolytic anemia until 2019. Then, the hemolytic anemia relapsed and a neutrophilia became evident (progressing slowly), as well as a thrombocytopenia and splenomegaly without adenopathy were found. The bone marrow aspirate showed a chronic myeloproliferative disease without dysplasia. A peripheral blood search for the CSF3R mutation (T618I) was positive, also suggesting Chronic Neutrophilic Leukemia (CNL). For a discrete monocytosis, a chronic myelomonocytic leukemia (CMML) was also considered. Hydroxyurea was then prescribed. The T618I CSF3R mutation is highly suggestive of CNL (being diagnostic criteria for CNL); however, this case may also suggest CMML as a possible diagnosis (there are other mutations in the CSF3R gene described for CMML, but not the T618I, which is highly exclusive of CNL according to the literature). To our knowledge, this is the first report of a possible CNL in a CLL patient (the opposite was already described in 1998).
PR3ANCA Related Cerebral Vasculitis in Ulcerative Colitis Presenting with Orbital Involvement: A Case Report with Review of Literature
Authors: Athira Unnikrishnan, Shila Azodi, Nadeem Ansari, Megan Brown, Joshua Kamnetz, Robert C Uchiyama
Journal: Case Rep Rheumatol (2014)

PR3 ANCA is a classic marker of granulomatosis with polyangiitis (GPA). There have been several recent reports of increased prevalence of PR3ANCA in ulcerative colitis (UC) patients, the clinical implication of which is not well defined. We are reporting a case of 27-year-old Caucasian male with 14-year history of UC presenting with unilateral proptosis, conjunctival congestion, and chemosis who developed acute hemiparesis within three days of hospital admission, followed by rapid neurological deterioration correlating with brain imaging findings. Serologically he had atypical PANCA with high PR3 antibody titer with a negative infectious workup. His cerebral angiogram was normal but the brain biopsy showed necrotizing vasculitis. He was diagnosed with PR3 ANCA mediated cerebral and orbital vasculitis associated with UC. Treatment was initiated with high dose steroids, plasmapheresis, and cyclophosphamide. He improved significantly with residual left hemiparesis.