OpenMed/multicare-articles huggingface dataset:
Cranial Cruciate Ligament Desmotomies in Sheep Resulting in Peroneus Tertius Injury
Authors: Peter J Welsh, Crystal G Collier, Holly M Clement, Michael N Vakula, Jeffrey B Mason
Journal: Case Rep Vet Med (2021)
MeSH terms: Case Reports

Surgical destabilization of the stifle joint via cranial cruciate ligament desmotomy (CCLD) is a routine procedure for the study of osteoarthritis (OA). Traditionally performed in rats, rabbits, cats, and dogs, CCLD in sheep provides an opportunity to study the pathology and treatment of joint instability in a species whose stifle better represents the equivalent human femorotibial joint. The surgical approaches for CCLD in sheep are variable and can result in inconsistent outcomes. Eight sheep underwent CCLD for use in a gene therapy study. We report this case in which six of the eight sheep were clinically diagnosed by pathognomonic signs and later confirmed by postmortem dissection, with injury of the peroneus tertius (PT) muscle. The PT plays a crucial role in the normal gait of large animals, including sheep. Injury to the PT results in failure of the reciprocal apparatus of the hind limb in which the hock can be extended during stifle flexion creating a varied gait and an indiscriminate increase in instability of the stifle and hock joints. Restricted movement postoperatively may provide decreased variability in surgical outcomes. Alternatively, increased stifle instability via CCLD coupled with PT transection or PT transection alone could potentially provide a superior model of stifle instability and OA development in sheep.
Fatal disruption of a left atrial myxoma associated with trauma
Authors: Anthony Iacco, Nazneen Billimoria, Greg Howells
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Cardiac myxomas are benign tumors composed of sparse stellate cells in an extensive mucoid stroma. The surface of these tumors is often friable and gelatinous. Their intracardiac location makes embolization a constant threat. We report a patient who had diffuse systemic embolization of a left atrial myxoma coincident with a low-velocity frontal motor vehicle crash.
Acute Generalized Exanthematous Pustulosis following SARS-CoV-2 Virus: Remdesivir as a Suspected Culprit
Authors: Fatemeh Mohaghegh, Parvaneh Hatami, Zeinab Aryanian, Farahnaz Fatemi, Zeinab Mohseni Afshar
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Acute generalized exanthematous pustulosis (AGEP) is an exanthematous condition, predominantly occurring as a result of drug reactions. We, hereby, present the first case of AGEP following treatment with remdesivir in a patient with COVID-19, without hydroxychloroquine use, which serves as a reminder to consider remdesivir as a possible causative agent when dealing with AGEP presentation in COVID patients.
Aerococcus urinae Mitral Valve Endocarditis-Related Stroke: A Case Report and Literature Review
Authors: Darius Adomavicius, Mark Bock, Christian-Friedrich Vahl, Ekkehard Siegel
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: aerococcus urinae, emboli, heart valve, infective endocarditis, stroke

Background. Aerococcus urinae is a rare causative pathogen of infective endocarditis that results in a high risk of embolic events. The mortality rate for A urinae endocarditis is high. Old age and underlying urologic conditions are the best-known risk factors for infection. Case Description. We report the clinical course of the disease in a 49-year-old man who presented symptoms of a urinary tract infection. A few days later, transthoracic echocardiography showed a conspicuous mitral valve with myxomatous alterations. Following the detection of a cerebral embolism with associated stroke symptoms, as well as at the beginning of cardiac failure, the emergency indication for the surgical treatment of mitral valve endocarditis was given. On the second day following the operation, circulatory collapse rapidly developed. Following an unsuccessful attempt at cardiopulmonary resuscitation, the patient died. Review of the Literature. From 1991 to 2017, 29 cases of A urinae-induced endocarditis have been described in PubMed and Medline. One or 2 new cases are published annually. We review all reported cases of A urinae endocarditis, with an emphasis on the predisposing factors, course, and outcomes of the disease. Conclusion. A urinae endocarditis is a rare disease primarily affecting elderly men with urinary tract pathologies and comorbidities. The course of the disease is severe, and the outcome is often fatal. A 16S rDNA polymerase chain reaction investigation of bacterial genome provides proof of the presence of A urinae. Because of the high risk of embolism, rapid treatment should focus on the diseased heart valve. Based on existing data and the experience gained from handling cases, treatment with β-lactam and aminoglycosides is recommended. It is also recommended that operative therapy take place as soon as possible.
Anesthetic considerations in a patient with amiodarone-induced thyrotoxicosis
Authors: Paul Calis, Remco Berendsen, Angelique Logeman, Elise Sarton, Leon Aarts
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Amiodarone-induced thryrotoxicosis (AIT) is a rare but serious complication of amiodarone use, especially in patients with severe cardiac disease. We present a patient who developed AIT, following administration of amiodarone for life-threatening ventricular arrhythmias. We discuss the medical management of AIT and anesthetic considerations for management of patients with thyrotoxicosis and severe cardiac disease who require surgery including thyroidectomy.
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
Authors: Yixi Sun, Yanfeng Li, Min Chen, Yuqin Luo, Yeqing Qian, Yanmei Yang, Hong Lu, Fenlan Lou, Minyue Dong
Journal: Front Genet (2019)
Keywords: l1cam, hydrocephalus, silent mutation, splicing mutation, whole-exome sequencing
MeSH terms: Case Reports

X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. In the present study, we describe a novel silent L1CAM mutation in a Chinese pregnant woman reporting continuous five times pregnancies with fetal hydrocephalus. After fetal blood sampling, we found c.453G > T (p.Gly151 = ) in the L1CAM gene of the fetus by WES; RT-PCR of the messenger RNA (mRNA) from cord blood mononuclear cells and subsequent sequence analysis identified the mutation created a potential 5' splice site consensus sequence, which would result in an in-frame deletion of 72 bp from exon 5 and 24 amino acids of the L1CAM protein. Heterozygous mutations were confirmed in analyzing DNA and mRNA from peripheral blood mononuclear cells of the woman, and a severe L1 syndrome was confirmed by fetal ultrasound scan and MRI. Our study first indicated c.453G > T (p.Gly151 = ) in L1CAM could be disease causing for hydrocephalus, which would aid in genetic counseling for the prenatal diagnosis of hydrocephalus. Meanwhile, it suggested some silent mutations detected in WES should not be ignored; splicing predictions of these mutations were necessary.
Natal teeth: a case report and reappraisal
Authors: Ghadah A Malki, Emad A Al-Badawi, Mohammad A Dahlan
Journal: Case Rep Dent (2015)

The presence of teeth at birth (natal teeth) or within a month after delivery (neonatal teeth) is a rare condition. Natal and neonatal teeth are conditions of significant importance to pediatric dentists and pediatricians. This report discusses a case in which a five-day-old infant required extraction of a mobile mandibular natal tooth to avoid the risk of aspiration and interference with feeding. Also, a review of the literature was conducted to discuss the etiology, clinical features, complications, and management of natal and neonatal teeth.
A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
Authors: ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: acth resistance, chinese siblings, fgd1, mc2r, homozygous mutation
MeSH terms: Glucocorticoids, Receptor, Melanocortin, Type 2 / genetics, Case Reports, Research Support, Non-U.S. Gov't, East Asian People, Humans, Mutation, Glucocorticoids, Receptor, Melanocortin, Type 2, Familial Glucocorticoid Deficiency 1

Background:
Melanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1).
Case presentation:
We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in MC2R, presenting with skin hyperpigmentation, hyperbilirubinemia, and tall stature. These individuals showed novel clinical features, including congenital heart defects, not been found in other FGD1 patients.
Conclusions:
We reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in MC2R.Our report may expand the genetic and clinical spectrum of FGD1.
Diastema Closure in Anterior Teeth Using a Posterior Matrix
Authors: Ayush Goyal, Vineeta Nikhil, Ritu Singh
Journal: Case Rep Dent (2016)

Presence of diastema between anterior teeth is often considered an onerous esthetic problem. Various treatment modalities are available for diastema closure. However, not all diastemas can be treated the same in terms of modality or timing. The extent and the etiology of the diastema must be properly evaluated. Proper case selection is of paramount importance for a successful treatment. In this case report, diastema closure was performed with direct composite restorations. One bottle etch-and-rinse adhesive was used and a single shade was used to close the diastemas. Contoured sectional posterior matrix was used to achieve anatomic contouring of the proximal surfaces of the teeth. This was followed by finishing and polishing using polishing discs. Patient was kept on recall every 6 months. Conclusion. Diastema closure with correct anatomic contouring is easy to perform using the contoured sectional matrices. At 14-month recall, no clinical signs of failure like discoloration or fracture were evident. Also, patient did not complain of any sensitivity. Thus, direct composite restorations serve as durable and highly esthetic restorations leading to complete patient satisfaction.
A Case of Significant Response to Olaparib in a Patient with Primary Peritoneal Carcinosarcoma Diagnosed by Laparoscopic Surgery
Authors: Satoshi Nagamata, Yukiko Nakasuji, Keitaro Yamanaka, Maho Azumi, Keiichi Washio, Maho Shimizu, Ryosuke Takahashi, Kazuyo Matsumoto, Yuka Murata, Kaho Suzuki, Masashi Deguchi, Hideto Yamada, Yoshito Terai
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Primary peritoneal carcinosarcomas which arise from extragenital locations are extremely rare. Carinosarcomas contain both carcinomatous and sarcomatous elements and can be mainly detected in the female genital tract. We herein report a case of primary peritoneal carcinosarcoma diagnosed by laparoscopic surgery and treated with olaparib. A 62-year-old woman referred to our hospital due to abdominal distension. From imaging findings, we suspected advanced primary peritoneal carcinoma, and laparoscopic surgery was thereafter performed. The pathological diagnosis was carcinosarcoma, and the patient received chemotherapy with docetaxel and carboplatin. After three cycles of chemotherapy, the interval debulking surgery was attempted but resulted in suboptimal results. Because the bilateral ovaries were observed with a normal size and normal findings, we considered that the most likely diagnosis was primary peritoneal carcinosarcoma. After the additional chemotherapy and a 6-month observation period, the tumor relapsed. The patient received chemotherapy again, and the peritoneal carcinosarcoma was judged to be a platinum-sensitive tumor. Oral administration of olaparib was thus initiated. Although a dose reduction was needed due to anemia, olaparib was effective, and the patient could continue the drug for another 7 months. This is the first report of primary peritoneal carcinosarcoma treated with olaparib and shows that it could be a treatment option for platinum-sensitive tumors.
Postmortem Investigation of Immunohistochemical Staining and Gross Description of Sarcomatoid Carcinoma of the Lung in a Patient With Extreme Leukemoid Reaction
Authors: Ali Ammar, Austin Ellis, Julia Hegert, Timothy W Jones, Rumi Khan
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: extreme leukemoid reaction, giant cell carcinoma, rare lung cancer, sarcomatoid carcinoma
MeSH terms: Carcinoma / pathology, Carcinoma, Giant Cell / pathology, Leukemoid Reaction / pathology, Lung Neoplasms / pathology, Case Reports, Aged, Autopsy, Biomarkers, Tumor / analysis, Carcinoma / classification, Carcinoma, Giant Cell / classification, Humans, Immunohistochemistry, Male, Staining and Labeling, Biomarkers, Tumor

A 72-year-old male smoker was brought into the emergency department complaining of 4 months of progressive dyspnea and fatigue. Computed tomography angiogram of the lungs was negative for pulmonary embolism; however, a 10 cm right upper lobe mass and multiple bilateral pulmonary nodules were identified. While computed tomography scan of the head showed no lesions in the brain, there was osseous destruction of the right mandible. Records obtained from an outside hospital indicated that he had 2 prior biopsies of this lung mass that failed to show malignant cells. In addition, an outpatient positron emission tomography scan had shown increased tracer uptake in this mass as well as multiple nodules in the contralateral lung and in the left adrenal gland. This gentleman was admitted for sepsis and was started on broad-spectrum antibiotics. He continued to have respiratory compromise and required transfer to the intensive care unit for intubation and mechanical ventilation. Over the next 4 days, the patient progressed into septic shock requiring vasopressors and developed worsening respiratory failure. His white blood cell count continued to rise and peaked at 157 × 103 cells/µL. The patient's wife decided to proceed with comfort measures and the patient subsequently expired. Autopsy was consistent with sarcomatoid carcinoma, also known as giant cell carcinoma of the lung. Immunohistochemical staining was also performed, which identified several tumor markers as well as distant metastasis, hemorrhage, and multi-organ necrosis.
Necrotising fasciitis of the breast: A rare but deadly disease
Authors: Bertram Marks, Tarannum Fasih, Sunil Amonkar, Mujahid Pervaz
Journal: Int J Surg Case Rep (2019)
Keywords: breast, case report, cross-sectional imaging, necrotising fasciitis

Introduction:
Necrotising fasciitis is a rare but deadly bacterial infection causing soft tissue and fascial necrosis. It is associated with a mortality rate of 25%. It is characterised by; erythematous skin, which turns dusky blue before haemorrhagic bullae develop; localised pain; and inflammation. It is most commonly found in the extremities, the abdomen or the perineum but is rarely seen in the breast.
Case presentation:
We describe a 54-year-old lady who presented with breast erythema and raised inflammatory markers. Initially treated as cellulitis, however when her symptoms did not improve and despite IV antibiotics her bloods worsened, a CT scan was performed which showed a large volume of interstitial soft tissue gas with diffuse fat stranding, consistent with necrotising fasciitis. Debridement of her breast alongside the use of sensitive antibiotics and ITU support led to a satisfactory outcome.
Discussion:
We discuss how an early diagnosis can be made by the recognition of a triad of symptoms common in necrotising fasciitis, and how optimal management can be achieved with the incorporation of imaging to successfully identify the condition and allow targeted debridement of the areas of necrotising fasciitis.
Conclusion:
A high index of suspicion should be held if pain is disproportionate to the signs or sepsis is present. To aid an early diagnosis, imaging of the breast should be performed early to avoid delay in treatment.
Aortic Pseudoaneurysm Secondary to Mediastinitis due to Esophageal Perforation
Authors: Claudia Patricia Zuluaga, Felipe Aluja Jaramillo, Sergio Andrés Velásquez Castaño, Aura Lucía Rivera Bernal, Julio Cesar Granada, Jorge Alberto Carrillo Bayona
Journal: Case Rep Radiol (2016)

Esophageal perforation is a condition associated with high morbidity and mortality rates; it requires early diagnosis and treatment. The most common complication of esophageal rupture is mediastinitis. There are several case reports in the literature of mediastinitis secondary to esophageal perforation and development of aortic pseudoaneurysm as a complication. We report the case of a patient with an 8-day history of esophageal perforation due to foreign body (fishbone) with mediastinitis and aortic pseudoaneurysm. The diagnosis was made using Computed Tomography (CT) with intravenous and oral water-soluble contrast material. An esophagogastroduodenoscopy did not detect the perforation.
Two siblings with familial chylomicronemia syndrome: disease course and effectiveness of early treatment
Authors: Hanan Al Azkawi, Ibrahim Alalwan
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age. Due to high triglyceride levels, Gemfibrozil (a fibric acid derivative) was started at diagnosis. Close clinical followup and laboratory monitoring of these children showed no side effects from the drug, and the risk of acute pancreatitis was significantly reduced.
Subcutaneous Lobular Capillary Hemangioma Presenting as a Facial Mass
Authors: Charles Saadeh, Seckin O Ulualp, Dinesh Rakheja
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Lobular capillary hemangioma is a benign lesion of the skin and mucous membranes. Subcutaneous lobular capillary hemangioma presents as a deeper nodule. Lack of the characteristic surface changes of this subtype of lobular capillary hemangioma makes the clinical diagnosis challenging. We describe clinical, radiologic, and histological features of a subcutaneous lobular capillary hemangioma tissue presenting as a facial mass in a 12-year-old male. The mass was a firm, nontender, immobile, subcutaneous nodule, with no color change of the overlying skin. CT imaging documented a hyperdense and nonlipomatous mass involving soft tissue of the left lateral nasal wall. An excisional biopsy was performed. Histologic evaluation showed subcutaneous lobular capillary hemangioma. Subcutaneous lobular capillary hemangioma, although uncommon, should be considered in the differential diagnosis of lateral nasal wall mass in children.
Spotted Temporal Lobe Necrosis following Concurrent Chemoradiation Therapy Using Image-Guided Radiotherapy for Nasopharyngeal Carcinoma
Authors: Yu-Wei Chiang, Li-Jen Liao, Chia-Yun Wu, Wu-Chia Lo, Pei-Wei Shueng, Chen-Xiong Hsu, Deng-Yu Guo, Pei-Yu Hou, Pei-Ying Hsieh, Chen-Hsi Hsieh
Journal: Case Rep Otolaryngol (2022)
MeSH terms: Case Reports

Background:
To explore spotted temporal lobe necrosis (TLN) and changes in brain magnetic resonance imaging (MRI) after image-guided radiotherapy (IGRT) in a patient with nasopharyngeal carcinoma (NPC). Case presentation: a 57-year-old male was diagnosed with stage III NPC, cT1N2M0, in 2017. He underwent concurrent chemoradiation therapy (CCRT) with cisplatin (30 mg/m2) and 5- fluorouracil (5-FU, 500 mg/m2) plus IGRT with 70 Gy in 35 fractions for 7 weeks. The following MRI showed a complete response in the NPC. However, the patient suffered from fainting periodically when standing up approximately 3 years after CCRT. Neck sonography showed mild atherosclerosis (< 15%) of bilateral carotid bifurcations and bilateral small-diameter vertebral arteries, with reduced flow volume. The following MRI showed a 9 mm × 7 mm enhancing lesion in the right temporal lobe without locoregional recurrence, and TLN was diagnosed. The lesion was near the watershed area between the anterior temporal and temporo-occipital arteries. The volume of the necrotic lesion was 0.51 c.c., and the mean dose and Dmax of the lesion were 64.4 Gy and 73.7 Gy, respectively. Additionally, the mean dose, V45, D1 c.c. (dose to 1 ml of the temporal lobe volume), D0.5 c.c. and Dmax of the right and left temporal lobes were 11.1 Gy and 11.4 Gy, 8.5 c.c. and 6.7 c.c., 70.1 Gy and 67.1 Gy, 72.0 Gy and 68.8 Gy, and 74.2 Gy and 72.1 Gy, respectively.
Conclusion:
Spotted TLN in patients with NPC treated by IGRT may be difficult to diagnose due to a lack of clinical symptoms and radiological signs. Endothelial damage may occur in carotid and vertebral arteries within the irradiated area, affecting the small branches supplying the temporal lobe and inducing spotted TLN. Future research on the relationship between vessels and RT or CCRT and the development of TLN is warranted.
Management of long-term cryptococcal meningitis neoformans in a surviving patient: A case report
Authors: Shijun Hu, Tao Liu, Shixiong Huang, Hui Liang
Journal: Front Med (Lausanne) (2022)
Keywords: csf pressure, cryptococcal meningitis, hydrocephalus, standardized medical therapy, ventriculoperitoneal shunt
MeSH terms: Case Reports

Cryptococcal meningitis is a common fungal infection of the central nervous system with high mortality and disability rates. A prominent clinical manifestation is persistent and severe cranial hypertension, which is one of the most critical outcome determinants in patients with cryptococcal meningoencephalitis. Herein, we report and discuss a case of cryptococcal meningitis treated by an inadequate course of medical therapy and placement of a ventriculoperitoneal shunt in a patient who survived for more than 10 years.