OpenMed/multicare-articles huggingface dataset:
Case Report: A Novel Variant c.2262+3A>T of the SCN5A Gene Results in Intron Retention Associated With Incessant Ventricular Tachycardias
Authors: Jie Yin, Jia Zhou, Jinlong Chen, Ting Xu, Zhongman Zhang, Han Zhang, Chang Yuan, Xueying Cheng, Yuming Qin, Bixia Zheng, Chunli Wang, Shiwei Yang, Zhanjun Jia
Journal: Front Med (Lausanne) (2021)
Keywords: scn5a, abnormal rna splicing, cardiac sodium channel, inherited arrhythmia, new donor site
MeSH terms: Case Reports

Objective: Voltage-gated sodium channel Nav1.5 encoded by the SCN5A gene plays crucial roles in cardiac electrophysiology. Previous genetic studies have shown that mutations in SCN5A are associated with multiple inherited cardiac arrhythmias. Here, we investigated the molecular defect in a Chinese boy with clinical manifestations of arrhythmias. Methods: Gene variations were screened using whole-exome sequencing and validated by direct Sanger sequencing. A minigene assay and reverse transcription PCR (RT-PCR) were performed to confirm the effects of splice variants in vitro. Western blot analysis was carried out to determine whether the c.2262+3A>T variant produced a truncated protein. Results: By genetic analysis, we identified a novel splice variant c.2262+3A>T in SCN5A gene in a Chinese boy with incessant ventricular tachycardias (VT). This variant was predicted to activate a new cryptic splice donor site and was identified by in silico analysis. The variant retained 79 bp at the 5' end of intron 14 in the mature mRNA. Furthermore, the mutant transcript that created a premature stop codon at 818 amino acids [p.(R818*)] could be produced as a truncated protein. Conclusion: We verified the pathogenic effect of splicing variant c.2262+3A>T, which disturbed the normal mRNA splicing and caused a truncated protein, suggesting that splice variants play an important role in the molecular basis of early onset incessant ventricular tachycardias, and careful molecular profiling of these patients will be essential for future effective personalized treatment options.
Vanishing large ovarian cyst with thyroxine therapy
Authors: Pramila Dharmshaktu, Aditya Kutiyal, Dinesh Dhanwal
Journal: Endocrinol Diabetes Metab Case Rep (2013)

A 21-year-old female patient recently diagnosed with severe hypothyroidism was found to have a large ovarian cyst. In view of the large ovarian cyst, she was advised to undergo elective laparotomy in the gynaecology department. She was further evaluated in our medical out-patient department (OPD), and elective surgery was withheld. She was started on thyroxine replacement therapy, and within a period of 4 months, the size of the cyst regressed significantly, thereby improving the condition of the patient significantly. This case report highlights the rare and often missed association between hypothyroidism and ovarian cysts. Although very rare, profound hypothyroidism that can cause ovarian cysts in an adult should always be kept in the differential diagnosis to avoid unnecessary ovarian surgery.
Learning points:
Hypothyroidism should be considered in the differential diagnosis of adult females presenting with multicystic ovarian tumours.Adequate thyroid hormone replacement therapy can prevent these patients from undergoing unnecessary and catastrophic ovarian resection.Surgical excision should be considered only when adequate thyroid replacement therapy fails to resolve ovarian enlargement.In younger women with ovarian cysts, it is also desirable to avoid unnecessary surgery so as to not compromise fertility in the future.
A Case of Systemic Lupus Erythematosus/Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Overlap Syndrome with Dissociated Pathological and Immunological Findings
Authors: Kazuhiko Kato, Tetsuya Kawamura, Risa Terashima, Yukiko Tsuchiya, Yasuhito Takahashi, Kenji Kasai, Takashi Yokoo
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Systemic lupus erythematosus/antineutrophil cytoplasmic antibody-associated vasculitis overlap syndrome (SLE/AAV OS) describes a pathological condition that presents with overlapping features of two diseases. There have been few reports of SLE/AAV OS and none from Japan. We present the case of a 59-year-old woman admitted with chief complaints of fever and decreased renal function. SLE was suspected due to the identification of four items from the diagnostic criteria of the American College of Rheumatology, including positivity for anti-ds-DNA and antinuclear antibodies. However, pathological findings from the kidney biopsy suggested pauci-immune crescentic glomerulonephritis. She was also diagnosed with AAV according to the Chapel Hill Consensus Conference (CHCC) 2012 definitions and the classification algorithm of AAV. SLE/AAV OS was suspected, we started immunosuppressant therapy, and subsequently her renal function improved. In previous reports, initial immunological and pathological findings generally concur. In cases where clinical and pathological features appear to conflict, as in the present case, a treatment strategy decision should be based on pathological and immunological findings to improve the prognosis of OS.
Case report: modified latissimus dorsi muscle transfer for radial palsy: presentation of a new technique
Authors: Shahram Nazerani, Mohammad Hosein Kalantar Motamedi
Journal: Eplasty (2008)

Objective:
The latissimus dorsi muscle transfer finger and wrist extension is a well-known procedure for patients needing replantation or in brachial plexus injuries. To increase the length of the transferred muscle to reach to the finger and wrist extensors, the other authors suggest extending the muscle length by incorporating the iliac crest fascia, which not only prolongs the operation time but also minimizes the chances of a healthy and viable muscle-tendon junction. We present a modification of the standard latissimus dorsi transfer whereby the whole muscle (not partial harvest) is transferred and extended by tendon graft to minimize the distal muscle-tendon problems and inefficient muscle excursion commonly encountered with the thus far reported techniques.
Methods:
In a 12-year period (1996-2008), 5 patients were treated. Guidelines for patient selection were (1) complete high radial nerve palsy with no simpler solution to address the problem, (2) supple joints and gliding tendons, (3) good patient motivation, and (4) free muscle transfer not feasible or risky.
Results:
Five male patients aged 18 to 45 were treated for the absence of wrist and finger extension due to radial nerve damage or extensor group destruction. They were able to use the transferred muscle for extension with minimal training and physiotherapy.
Conclusion:
(1) Transferring the whole muscle ensures a complete neural arborization and better excursion. (2) It ensures a safe tendon suture wherein the muscle-tendon unit is far from the distal end of the skin flap (less possibility of necrosis).
Metastatic renal cell carcinoma to the pancreas, thyroid, & subcutaneous tissue 13 years after Radical nephrectomy: A case report
Authors: Alaa A Al Abdrabalnabi, Abdullah S AlQattan, Shahad Algarni, Miral Mashhour, Mohammed Al-Qahtani
Journal: Int J Surg Case Rep (2019)
Keywords: case report, pancreas metastasis, renal cell carcinoma, renal cell carcinoma metastasis, subcutaneous metastasis, thyroid metastasis

Introduction:
Renal cell carcinoma (RCC) accounts for 3% of all adult malignancies and is known for its poor prognosis. At the time of diagnosis up to 30% of patients will present with metastasis. We report multiple metastases of RCC to rare sites; twice to pancreases, thyroid, twice to subcutaneous tissue, and the other kidney- occurring years after the radical nephrectomy.
Case presentation:
Our case is of a 51-year-old female who underwent a right radical nephrectomy for RCC. Upon 6 years post-operative surveillance for recurrence, multiple metastatic lesions were found in the head of the pancreas which were resected by a Whipple procedure. Four years later, she presented with a thyroid nodule and fine needle aspiration showed metastatic RCC. The patient underwent a total thyroidectomy. Months later, the patient presented with a right forearm mass. Biopsy showed metastatic RCC. Excision with negative margins was performed. A year later, a metastatic lesion was found in the tail of pancreas in addition to a recurrent metastatic mass over the right forearm. The patient underwent completion pancreatectomy and resection of the forearm mass. One year later, another metastatic lesion was found in the left kidney, for which the patient underwent left partial nephrectomy with negative margins.
Conclusion:
RCC is one of the most aggressive malignancies. A high index of sucion is crucial to detect its metastasis. As some lesions maybe missed because they lack the classical radiological findings or are found in atypical locations, in addition to the latent recurrence of RCC metastasis, a lifelong follow-up is recommended.
A bladder wall angiomyolipoma as a manifestation of tuberous sclerosis: first case report
Authors: Mehmet Kalkan, Coşkun Sahin, Omer Etlik, Ergun Uçmaklı
Journal: Case Rep Urol (2013)

A 21-year-old female patient admitted to the emergency department complaining of left side pain. Hypovolemic shock, which was probably caused by retroperitoneal bleeding from left sided renal angiomyolipoma, was developed. Abdominal computed tomography showed multiple fat containing lesions in different, regions including right bladder wall, lower pole of left kidney, and right kidney. Some lesions compatible with tuberous sclerosis such as angiofibromas, Shagreen patches, myocardial, and brain hamartomas were also detected. Bladder wall mass showing intra- and extravesical extensions was seen at exploration. We removed the tumor completely preserving bladder trigone. Angiomyolipoma located at lower pole of left kidney was also removed. Diagnosis of bladder angiomyolipoma was confirmed by the immunohistochemical examination. Recurrent or residual mass was not detected at the three-months-follow-up. We report the first case of bladder angiomyolipoma confirmed by histopathologically as a tuberous sclerosis.
Advanced Skeletal Muscle Mass Reduction (Sarcopenia) Secondary to Neuromuscular Disease
Authors: G R Pesola, V Terla, M Pradhan
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

We describe a young male patient chronically on a ventilator secondary to decreased mobility from amyotrophic lateral sclerosis (ALS). He had both a tracheostomy for breathing and percutaneous endoscopic gastrostomy (PEG) for feeding. Using 24-hour urinary creatinine excretion data, we calculated an estimate of skeletal muscle (SM) mass. SM mass was indexed to height and weight to obtain the SM index. The SM index is used as a determinant to define sarcopenia. From the data, we found that this patient had the smallest SM index ever recorded at 2.2 kg/m2, consistent with extremely advanced sarcopenia. As a comparison, "severe" sarcopenia in a male is defined as a SM index ≤ 8.5 kg/m2. This method can be used in ICU patients to evaluate for sarcopenia which is a predictive marker for mortality.
Paraganglioma Presenting as a Nasal Septal Mass: Case Report and Literature Review
Authors: James H Kim, Nathan Tu, Bozena Barbara Wrobel
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Objectives:
To describe a rare case of a paraganglioma arising from the nasal septum and review the diagnosis and management of paragangliomas in the nasal cavity and paranasal sinuses.
Methods:
We present a case of a 70-year-old female presenting with persistent nasal congestion and obstruction. Nasal endoscopy revealed a posterior septal mass approaching the sphenoid sinuses and partially obstructing the nasopharynx. A biopsy of the mass was taken, and histologic analysis confirmed a diagnosis of paraganglioma.
Results:
The patient underwent an endoscopic resection of the tumor. There has been no evidence of disease recurrence after 3 months of follow-up.
Conclusions:
Paragangliomas arising from the nasal septum are exceedingly rare, but should be considered in the differential diagnosis in patients presenting with nasal septal masses. These tumors are typically benign, although few cases of malignant sinonasal paragangliomas have been reported. Treatment requires surgical excision with close follow-up as several cases of tumor recurrence have been reported.
Trigone ventricular glioblastoma multiforme with trapped temporal horn: A case report
Authors: Lei Liu, Shaozhen Wang, Xuetao Dong, Yaodong Liu, Liudong Wei, Linghong Kong, Qingjun Zhang, Kun Zhang
Journal: Front Oncol (2022)
Keywords: case report, glioblastoma multiforme, intraventricular, trapped temporal horn, trigone tumor
MeSH terms: Case Reports

Background:
Intraventricular glioblastoma multiforme (GBM) is extremely rare, especially in the trigone region. This report presents a case of trigone ventricular GBM with trapped temporal horn (TTH).
Case presentation:
A 59-year-old woman was admitted to our department with a 1-month history of rapidly progressive headache, nausea, and weakness in the right lower extremity. Head non-contrast computed tomography and enhanced magnetic resonance imaging (MRI) revealed a trigone ventricular mass lesion with TTH and heterogeneous enhancement. The lesion was found 18 months ago as a small asymptomatic tumor mimicking ependymoma. This neoplasm was removed subtotally through the right parieto-occipital approach guided by neuroendoscopy. A ventriculoperitoneal shunt was subsequently performed to relieve TTH. The final pathological diagnosis was GBM. Unfortunately, 36 days after the first surgery, the patient died due to her family's decision to refuse therapy.
Conclusion:
This rare case shows that GBM should be considered in the differential diagnosis of trigonal tumors. In this case, the tumor possibly originated from the neural stem cells in the subventricular zone. Patients with intraventricular GBM have a worse prognosis, and careful follow-up and early surgery for small intraventricular tumors are necessary, even for those with ependymoma-like radiological findings.
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
Authors: Raphaelle D Vallera, Yanli Ding, Kimmo J Hatanpaa, Justin A Bishop, Sasan Mirfakhraee, Abdel A Alli, Sergei G Tevosian, Mouna Tabebi, Oliver Gimm, Peter Söderkvist, Cynthia Estrada-Zuniga, Patricia L M Dahia, Hans K Ghayee
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: chek2, nf1, pcc, pnet, germline, somatic, tumor
MeSH terms: Adrenal Gland Neoplasms, Pheochromocytoma, Pituitary Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural, Checkpoint Kinase 2 / genetics, Female, Humans, Siblings, CHEK2 protein, human, Checkpoint Kinase 2

Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic testing results for making clinical decisions. Cases of two sisters carrying a germline CHEK2 variant are highlighted whereby possible other genetic drivers were discovered on tumor analysis. CHEK2 (also referred to as CHK2) loss of function has been firmly associated with breast cancer development. In this case report, two siblings with a germline CHEK2 mutation also had distinct endocrine tumors. Pituitary adenoma and pancreatic neuroendocrine tumor (PNET) was found in the first sibling and pheochromocytoma (PCC) discovered in the second sibling. Although pituitary adenomas, PNETs, and PCC have been associated with NF1 gene mutations, the second sister with a PCC did have proven germline CHEK2 with a pathogenic somatic NF1 mutation. We highlight the clinical point that unless the tumor is sequenced, the real driver mutation that is causing the patient's tumor may remain unknown.
Sinonasal Lymphoma Presenting as a Probable Sanctuary Site for Relapsed B Acute Lymphoblastic Leukaemia: A Case Report and Review of the Literature
Authors: W Y Lim, R Care, M Lau, S Chiruka, P J D Dawes
Journal: Case Rep Hematol (2015)

Sinonasal lymphoma is a non-Hodgkin lymphoma (NHL) representing 1.5% of all lymphomas. It presents as an unremitting ulceration with progressive destruction of midline sinonasal and surrounding structures. Poor prognosis warrants early treatment although diagnosis is challenging and frequently delayed. It is usually primary in origin and to our knowledge the sinonasal region has never been reported as a sanctuary site in leukaemia/lymphoma relapse. We present a unique case of B-cell ALL (acute lymphoblastic leukaemia) with late relapse to the nasal septum as a sinonasal lymphoblastic lymphoma and with genetic support for this as a sanctuary site.
Skeletal Muscle Lymphoma Presenting with Chronic Compartment Syndrome of Leg after Trauma
Authors: Jhong-You Li, Chung-Liang Li, Chun-Kuan Lu
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Compartment syndrome may be acute or chronic based on the clinical course and etiology. Here, we report the first known case to be diagnosed with skeletal muscle-derived B-cell lymphoma presenting with chronic compartment syndrome after trauma. A 62-year-old woman sought medical attention due to a one-month history of painful left lower leg swelling and paresthesia of the medial side of the foot after falling over. The patient underwent fasciotomy and debridement under the preoperative diagnosis of fasciitis and myositis with associated compressive neuropathy. Preoperative laboratory tests were within normal limits. Postoperative pathologic examination and bone marrow aspiration revealed B-cell lymphoma with bone marrow involvement postoperatively. Tumor lysis syndrome took place, presenting with drowsiness, poor appetite, and oliguria, after the operation along with multiple organ failure. Awareness of the differential diagnoses of compartment syndrome in such clinical situation is crucial because it may lead to different examination and treatment plan preoperatively.
Recurrent Primary Intrasellar Paraganglioma
Authors: Elizabeth A Schueth, Daniel C Martinez, Charles G Kulwin, Jose M Bonnin, Troy D Payner, Jonathan Y Ting
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

We describe a case of an 81-year-old male presenting with bitemporal visual field defects and blurry vision in the right eye. The patient was found to have a recurrent primary paraganglioma in the sellar and suprasellar region requiring a repeat transsphenoidal endoscopic resection. Immunohistochemical examination confirmed paraganglioma with the classic zellballen appearance which stained positive for chromogranin, synaptophysin, and S-100 in the periphery. Paragangliomas (PGLs) in the sella turcica are a rare entity; only 19 cases have ever been reported in the literature. PGLs in the sellar region are often misdiagnosed or diagnosed in a delayed fashion. Earlier diagnosis of this locally aggressive tumor and meticulous debulking can prevent morbidity secondary to the tumor's compressive effects. This report highlights the effectiveness of surgical interventions in treatment of paragangliomas. More research is still needed to determine the need for adjuvant therapies such as radiation.
Extensive colonization with carbapenemase-producing microorganisms in Romanian burn patients: infectious consequences from the Colectiv fire disaster
Authors: L E Pirii, A W Friedrich, J W A Rossen, W Vogels, G I J M Beerthuizen, M K Nieuwenhuis, A M D Kooistra-Smid, E Bathoorn
Journal: Eur J Clin Microbiol Infect Dis (2018)
Keywords: burn patients, cpe, carbapenemase, infection control, molecular epidemiology, review
MeSH terms: Acinetobacter baumannii / isolation & purification, Anti-Bacterial Agents / therapeutic use, Bacterial Proteins / metabolism, Burns / microbiology, Enterobacter cloacae / isolation & purification, Klebsiella pneumoniae / isolation & purification, Providencia / isolation & purification, Pseudomonas aeruginosa / isolation & purification, beta-Lactamases / metabolism, Case Reports, Acinetobacter baumannii / drug effects, Colistin / therapeutic use, Disasters, Enterobacter cloacae / drug effects, Humans, Kanamycin / therapeutic use, Klebsiella pneumoniae / drug effects, Linezolid / therapeutic use, Microbial Sensitivity Tests, Netherlands, Penicillanic Acid / analogs & derivatives, Penicillanic Acid / therapeutic use, Piperacillin / therapeutic use, Piperacillin, Tazobactam Drug Combination, Providencia / drug effects, Pseudomonas aeruginosa / drug effects, Romania, Silver Sulfadiazine / therapeutic use, Anti-Bacterial Agents, Bacterial Proteins, Piperacillin, Tazobactam Drug Combination, Kanamycin, Penicillanic Acid, beta-lactamase OXA-23, beta-Lactamases, beta-lactamase NDM-1, carbapenemase, oxacillinase, Linezolid, Silver Sulfadiazine, Piperacillin, Colistin

Health care of severe burn patients is highly specialized and may require international patient transfer. Burn patients have an increased risk of developing infections. Patients that have been hospitalized in countries where carbapenemase-producing microorganisms (CPMO) are endemic may develop infections that are difficult to treat. In addition, there is a risk on outbreaks with CPMOs in burn centers. This study underlines that burn patients may extensively be colonized with CPMOs, and it provides best practice recommendations regarding clinical microbiology and infection control. We evaluated CPMO-carriage and wound colonization in a burn patient initially treated in Romania, and transported to the Netherlands. The sequence types and acquired beta-lactamase genes of highly-resistant microorganisms were derived from next generation sequencing data. Next, we searched literature for reports on CPMOs in burn patients. Five different carbapenemase-producing isolates were cultured: two unrelated OXA-48-producing Klebsiella pneumoniae isolates, OXA-23-producing Acinetobacter baumanii, OXA-48-producing Enterobacter cloacae, and NDM-1-producing Providencia stuartii. Also, multi-drug resistant Pseudomonas aeruginosa isolates were detected. Among the sampling sites, there was high variety in CPMOs. We found 46 reports on CPMOs in burn patients. We listed the epidemiology of CPMOs by country of initial treatment, and summarized recommendations for care of these patients based on these reports and our study.
Successful Treatment of Streptococcal Toxic Shock Syndrome with Both Diffuse Peritonitis and Necrotizing Fasciitis
Authors: Shuichi Sato, Masahiro Ito, Tsuyoshi Sakai, Anri Kaneta, Fumie Sato
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Streptococcal toxic shock syndrome (STSS) is a life-threatening disease caused by infection of beta-hemolytic streptococci. Here, we report an uncommon case of STSS with both diffuse peritonitis and necrotizing fasciitis and summarize previous cases. The patient was diagnosed with STSS due to an infection of the soft tissue of the lower extremity after surgery for diffuse peritonitis. The general condition had rapidly deteriorated with multiple organ dysfunction. Immediate intensive care, including mechanical ventilation, hemodiafiltration, and repeated debridement, is indispensable for a favorable outcome.
Coronary Thrombosis without Dissection following Blunt Trauma
Authors: Archana Sinha, Michael Sibel, Peter Thomas, Francis Burt, James Cipolla, Peter Puleo, Keith Baker
Journal: Case Rep Cardiol (2016)

Blunt trauma to the chest resulting in coronary thrombosis and ST elevation myocardial infarction (STEMI) is a rare but well-described occurrence in adults. Angiography in such cases has generally disclosed complete epicardial coronary occlusion with thrombus, indistinguishable from the findings commonly found in spontaneous plaque rupture due to atherosclerotic disease. In all previously reported cases in which coronary interrogation with intravascular ultrasound (IVUS) was performed in association with acute revascularization, coronary artery dissection was implicated as the etiology of coronary thrombosis. We present the first case report of blunt trauma-associated coronary thrombosis without underlying atherosclerosis or coronary dissection, as documented by IVUS imaging.