OpenMed/multicare-articles huggingface dataset:
Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
Authors: Hong Yang, Hong Wang, Zongzhe Li, Jiangtao Yan, Yu-E Song, Hesong Zeng, Xingwei He, Rui Li, Dao Wen Wang
Journal: Front Cardiovasc Med (2022)
Keywords: aortic aoarctation, genetic variant, hypertension, hypertrophic cardiomyopathy, stent repair
MeSH terms: Case Reports

Background:
Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left ventricular wall thickening and likely left ventricular outflow tract (LVOT) obstruction. They are two irrelevant diseases, and their coexistence has not been reported before. Here, we described a young female patient who concurrently has CoA and HCM.
Case presentation:
The patient has had hypertension since 18-years old and complained of chest discomfort on effort and fatigue thereafter. Initially, she was diagnosed as having hypertrophic cardiomyopathy and primary hypertension. The presence of CoA was not found until she was 35 years old when she had an onset of paroxysmal supraventricular tachycardia (PSVT) and presented with syncope. Failure of the ablation procedure via the femoral artery revealed the possibility of CoA and PDA that was confirmed by aortic CTA and angiography. CoA was then treated successfully with a covered stent, and the symptoms of the patient improved remarkably. Additionally, the patient had typical imaging features of HCM, and two novel HCM-causing heterozygous mutations were identified by genetic testing, DSP-encoding desmoplakin, and MYBPC3-encoding myosin-binding protein C. The HCM was suspected to be contributing to the clinical presentations of the patient and challenged the timely diagnosis of CoA. The 8-year follow-up on aortic CTA and angiography revealed no stent graft-related complications. Moreover, no changes in HCM-related imaging features were found in the follow-up echocardiography 8 years after the correction of aortic coarctation, which strengthened the diagnosis of HCM.
Conclusion:
Here, we reported the diagnostic challenges, management, and 8-yeasr follow-up findings in a rare case of CoA combined with HCM. The case highlighted the importance for physicians to exclude CoA in young hypertensive patients, and proved the efficacy of stent repair in treating CoA in older patients.
A primary pulmonary glomus tumor: a case report and review of the literature
Authors: Yasushi Ariizumi, Hirotaka Koizumi, Masahiro Hoshikawa, Takuo Shinmyo, Kouji Ando, Atsushi Mochizuki, Ayako Tateishi, Masatomo Doi, Mieko Funatsu, Ichirou Maeda, Masayuki Takagi
Journal: Case Rep Pathol (2012)

A case of a glomus tumor originating from the lung is reported. A 43-year-old female had undergone resection of a right lung tumor following a clinical diagnosis of carcinoid, sclerosing hemangioma, or other sarcoma. Histologically, the tumor comprised uniform small round to oval cells with centrally located nucleus, a clear cytoplasm, and apparent cell borders. The tumor also showed a focally hemangiopericytomatous pattern with irregularly branching or dilated vessels. Electron microscopy revealed smooth muscle differentiation of the tumor cells. Immunostaining further revealed that the tumor cells expressed smooth muscle actin, h-caldesmon, muscle specific actin (HHF-35), but not cytokeratin, epithelial membrane antigen, synaptophysin, or chromogranin A. Based on these findings, a diagnosis of primary pulmonary glomus tumor was established. Glomus tumors of the lung are very rare and only 21 cases have been reported to date. The histological features of the present tumor and the relevant literature are discussed.
Case report: Nocardial brain abscess in a persistently SARS-CoV-2 PCR positive patient with systemic lupus erythematosus
Authors: Jelena Veličković, Tatjana Adžić Vukičević, Aleksandra Radovanović Spurnić, Igor Lazić, Bojana Popović, Ivan Bogdanović, Savo Raičević, Dragana Marić, Ivana Berisavac
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, nocardia, sars-cov-2, brain abscess, immunosuppression, systemic lupus erythematosus
MeSH terms: Case Reports

Coronavirus disease (COVID-19) in immunocompromised patients represents a major challenge for diagnostics, surveillance, and treatment. Some individuals remain SARS-CoV-2 PCR-positive for a prolonged period. The clinical and epidemiological significance of this phenomenon is not well understood. We report a case of a patient with a history of systemic lupus erythematosus (SLE) who has been persistently SARS-CoV-2 PCR positive for 9 months, with multiple thromboembolic complications, and development of nocardial brain abscess successfully treated with surgery and antibiotics.
Small cell carcinoma of the urinary bladder: A case report and review of the literature
Authors: Wen-Ting Ou, Qi-Lian Liang, Xin Huang, Zhou-Yu Li, Qiu-Long Liu
Journal: Oncol Lett (2015)
Keywords: bladder, dysuresia, painless gross hematuria, small cell carcinoma of the urinary bladder

Small cell carcinoma of the urinary bladder (SCBC) is a type of rare malignant tumor of the urinary tract. As it does not have specific symptoms and its epidemiological features are similar to transitional cell carcinoma of the bladder, it is often misdiagnosed. SCBC is highly aggressive, metastasizes very early and has a poor prognosis, and consequently, it has become a focus for urological surgeons and oncologists. An 82-year-old male visited the Department of Urinary Surgery, in the Affiliated Hospital of Guangdong Medical College (Zhanjiang, China), due to gross hematuria that had persisted for one week. Abdominal computed tomography showed a neoplasm of ~6×6×7 cm on the anterior wall of the bladder. The initial diagnosis was of uroepithelial cell carcinoma of the bladder and surgery was performed to remove the tumor. However, the subsequent pathological examination suggested that the tumor was an SCBC. Small cell carcinoma is a highly malignant disease, with a high mortality rate, and it rarely occurs in the bladder. Upon review of a large number of studies, SCBC was not found to present with specific symptoms, making the early diagnosis of the disease difficult, however, commonly occurring symptoms included dysuria, painless gross hematuria and urinary tract obstruction.
Severe Hyperphosphatemia in a Patient with Mild Acute Kidney Injury
Authors: Phuong Chi Pham, Raghu Konanur Ventakaram, Jimmy Pham, Harpreet Sidhu, Nada Bader, Phuong Mai Pham, Phuong Thu Pham
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Hyperphosphatemia may arise from various conditions including exogenous ingestion, extracellular shifts due to cell death or alterations in acid-base status, increased bone resorption, hormonal dysregulations leading to reduced renal excretion, reduced kidney function, or faulty measurement techniques. We herein present a case of a young pregnant woman who presented with mild acute kidney injury (AKI), invasive mucormycosis receiving liposomal amphotericin, and hyperphosphatemia out of proportion to the degree of kidney injury. While the patient was given routine phosphate-binding agent by her primary care team for presumed AKI-associated hyperphosphatemia, a full investigation by the renal consulting team for contributing factors other than kidney injury revealed that she actually had pseudohyperphosphatemia associated with the use of liposomal amphotericin. Erroneous treatment of pseudohyperphosphatemia may have been detrimental to this pregnant patient. A literature review for conditions associated with pseudohyperphosphatemia other than the use of liposomal amphotericin will be discussed.
Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
Authors: Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong
Journal: Front Genet (2022)
Keywords: ddx3x, rna sequencing, escaping x-chromosome inactivation (xci), intellectual disability, skewed x-chromosome inactivation (xci)
MeSH terms: Case Reports

Skewed XCI plays an important role in the phenotypic heterogeneities of many X-linked disorders, even involving in diseases caused by XCI-escaping genes. DDX3X-related intellectual disability is more common in females and less common in males, who usually inherit from unaffected heterozygous mothers. As an X inactivation (XCI) escaping gene, the role of skewed XCI in the phenotype of DDX3X mutant female is unknown. Here we reported a DDX3X: c.694_711dup18 de novo heterozygous mutation in a female with intellectual disability on the maternal X chromosome on the basis of SNPs detected by PCR-sanger sequencing. AR assay revealed that the maternal mutant X chromosome was extremely inactivated in the proband. Using RNA sequencing and whole-exome sequencing, we quantified allelic read counts and allele-specific expression, and confirmed that the mutant X chromosome was inactive. Further, we verified that the mutant DDX3X allele had a lower expression level by RNA sequencing and RT-PCR, and the normal and mutated DDX3X expression accounted for respectively 70% and 30% of total. In conclusion, we found a symptomatic female with extreme skewing XCI in the DDX3X mutant allele. It was discovered that XCI in the mutant allele was insufficient to reverse the phenotype of DDX3X-related neurodevelopmental disorder. It contributed to a better understanding of the role of skewed XCI in phenotypic differences, which can aid in the genetic counseling and prenatal diagnosis of disorders in females with DDX3X defects.
Type II Diabetes Patients under Sildenafil Citrate: Case Series Showing Benefits and a Side Effect
Authors: Livia M Zimmermann, Mauricio S Baptista, João Paulo Tardivo, Maria A Pinhal
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Background:
Diabetes mellitus is a highly prevalent disease with rapid universal growth. In 2013, there were already 382 million people with diabetes, and it is expected that by 2035, this number will double. Chronic hyperglycemia causes a series of biochemical and structural changes, especially in the eyes, kidneys, heart, arteries, and peripheral nerves, which usually leads to the progression of microvascular disease. Several literature reports showed that the chronic use of phosphodiesterase-5 inhibitors enhances the insulin sensitivity, improves the markers of endothelial function, and helps in the treatment of severe extremity ischemia and pulmonary hypertension. We aim to test the effect of sildenafil citrate (SC) as a glucose and microcirculation regulator in diabetic patients, paying special attention to the consequences of its use in the regulation of blood glucose level. Case Presentation. Two male patients, aged 53 and 73 years, with type II diabetes, using oral hypoglycemic agents and presenting pathology associated with microcirculation alterations and ischemia, were medicated daily with SC. Both patients presented a reduction in the glycemic level, requiring lower doses or no other oral diabetes medications. Patient 1, who presented diabetic foot, was treated in the ambulatory, and patient 2, with chronic obstructive pulmonary disease and consequent mild pulmonary hypertension, was treated in the office. In addition to the clinical improvement of foot wounds and dyspnea due to the increase in microcirculatory perfusion, hypoglycemic episodes were observed in both patients under SC. The patient with pulmonary hypertension experienced one severe hypoglycemia episode and had to be taken to an emergency room.
Conclusion:
Type 2 diabetic patients may benefit from the use of a phosphodiesterase-5 inhibitor in order to improve the microcirculatory perfusion as well as glycemic control. However, adverse side effects may involve hypoglycemia. Since off-label use of SC in patients suffering from microcirculatory alterations has increased recently, our results showed that more studies are needed to verify the prevalence of hypoglycemia episodes as well as it's possible physiologic mechanism.
Acute cellulitis with Shewanella algae bacteremia
Authors: Mariana Oliveira, Pamela Ferreira, Vanessa Barcelos
Journal: Rev Soc Bras Med Trop (2023)
MeSH terms: Bacteremia / diagnosis, Bacteremia / drug therapy, Bacteremia / microbiology, Gram-Negative Bacterial Infections / diagnosis, Gram-Negative Bacterial Infections / drug therapy, Gram-Negative Bacterial Infections / microbiology, Shewanella, Case Reports, Cellulitis / diagnosis, Cellulitis / drug therapy, Humans, Middle Aged, Shewanella algae

Shewanella algae are gram-negative bacteria commonly found in aquatic environments. Infections caused by this agent are rarely documented; however, they are increasingly reported, mainly in countries with warm to temperate climates. Herein, we present a case of a 46-year-old immunocompetent woman with acute cellulitis and S. algae bacteremia (the first isolation culture performed at our hospital). To better understand the epidemiology, clinical outcomes, and treatment possibilities for S. algae bacteremia, we searched literature for similar cases; however, we did not find any cases of infections caused by this microorganism reported in Portugal or the Azores.
Three suspected cases of sugammadex-induced anaphylactic shock
Authors: Tomonori Takazawa, Yukinari Tomita, Nagahide Yoshida, Akihiro Tomioka, Tatsuo Horiuchi, Chie Nagata, Masaki Orihara, Makiko Hardy Yamada, Shigeru Saito
Journal: BMC Anesthesiol (2014)
Keywords: anaphylactic shock, general anesthesia, sugammadex
MeSH terms: Anaphylaxis / etiology, gamma-Cyclodextrins / adverse effects, Case Reports, Adolescent, Adult, Aged, Androstanols, Appendectomy / adverse effects, Arthroplasty, Replacement, Knee / adverse effects, Drug Hypersensitivity / complications, Drug Hypersensitivity / diagnosis, Female, Humans, Male, Neuromuscular Nondepolarizing Agents, Paranasal Sinuses / surgery, Rocuronium, Sugammadex, Androstanols, Neuromuscular Nondepolarizing Agents, gamma-Cyclodextrins, Sugammadex, Rocuronium

Background:
Sugammadex has a unique mechanism of action and is widely used because of its safety and efficacy. A few recent reports have described allergic reactions to clinical doses of sugammadex. We hereby describe another series of cases of possible anaphylaxis to sugammadex.
Case presentation:
We present three suspected cases of sugammadex-induced anaphylactic shock, including a 13-year-old boy who underwent laparoscopic appendectomy, a 75-year-old woman who underwent left knee arthroplasty, and a 34-year-old man who underwent left pansinectomy for sinobronchitis. All three patients received general anesthesia with rocuronium and their tracheas were intubated. Shortly after injection of sugammadex for reversal of rocuronium, all of them experienced a decrease in blood pressure along with mucocutaneous erythema. In the most severe case, reintubation after extubation was required due to difficulty in manual ventilation. All patients recovered with anti-allergic therapy. On later investigation, all three patients had a positive skin reaction to sugammadex.
Conclusion:
Our results suggest that physicians using sugammadex should be aware of the possibility of sugammadex-induced anaphylaxis.
Multiple smooth muscle hamartoma: case report and review of the literature
Authors: Ghaninezhadh Haydeh, Asgary Massoud, Noormohammadpour Pedram
Journal: Indian J Dermatol (2009)
Keywords: multiple, congenital, immunohistochemical, skeletal abnormalities, smooth muscle hamartoma

Smooth muscle hamartoma (SMH) is a proliferative disorder of cells originating from muscle cells. It is a benign tumoral mass that usually presents as a single congenital skin-colored and hypertrichotic plaque involving the trunk and extremities. Multiple SMHs have rarely been reported in the literature. We describe the case of a seven-month-old girl with multiple SMHs located over the back and arm areas. The diagnosis was confirmed by biopsy and immunohistochemical (IHC) staining. She had no cerebral or skeletal abnormalities and her growth and development were normal.
An Unusual Variant of a Common Palatal Salivary Gland Tumor: Case Report of a Pleomorphic Adenoma with Significant Lipomatous Metaplasia
Authors: Sonal S Shah, Tamer Zayed Moustafa
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Introduction:
Salivary gland tumors are relatively common in the junction of the hard and soft palate area of the oral cavity. Pleomorphic adenoma is considered the most common benign salivary gland tumor in this location. Some of the rarer subtypes of this tumor may have a misleading clinical presentation. Recognition of these variants is important since long-standing pleomorphic adenomas have the potential to become malignant.
Case presentation:
A healthy 24-year-old male was referred for a painless, large, slowly growing, exophytic swelling of the right hard and soft palate. Interestingly, the lesion was yellowish in color and soft to palpation, suggestive of an innocuous lipoma or cystic lesion. An incisional biopsy was performed and the diagnosis was consistent with pleomorphic adenoma with a significant adipose tissue component. The patient was referred to an oral surgeon and underwent a complete surgical excision. Upon two-year follow-up, the patient is doing well with no recurrences.
Conclusion:
This case highlights a rare microscopic variant of pleomorphic adenoma with altered clinical presentation that led to an erroneous clinical diagnosis. The importance of taking a biopsy for definitive diagnosis and appropriate management is reinforced.
Case Report: Giant Cell Tumor of Tendon Sheath After Breast Augmentation
Authors: Yu Zhang, Yingying Fan, Hongying Zhang, Hong Bu, Min Chen, Jieliang Yang, Zhang Zhang
Journal: Front Oncol (2022)
Keywords: csf1, breast, breast augmentation, giant cell tumor of tendon sheath, synovial metaplasia
MeSH terms: Case Reports

Giant cell tumor of tendon sheath (GCTTS) is a benign tumor. It occurs predominantly in the hands, ankles, and knees. A 39-year-old female presented with GCTTS in the right breast after breast augmentation. There was a clear borderline between the tumor and breast tissue. In terms of morphological appearance, synovial metaplasia could be observed in part of the collagenous capsule. The tumor was moderately cellular and was composed of synovium-like monocytes. The main part of the tumor was blended with nested and scattered xanthomatous cells, lymphocytes, and osteoclast-like giant cells. Hemosiderin granules were distributed in the lesion. Immunohistochemical staining and fluorescence in situ hybridization (FISH) analyses were performed. CD68 staining was positive in osteoclast-like giant cells. In addition, neither significant USP6 translocation nor CSF1 translocation was detected by FISH. We hypothesized that the pathogenesis of this rare GCT-TS was based on synovial metaplasia and did not depend on the translocation of classical CSF1.
Case Report: A report on the countermeasures after the rupture of the scalp venous indwelling needle catheter in 12 cases
Authors: Haiyan Zhong, Mengze Wang, Yang Gui, Lei Yang, Qianhao Zhao
Journal: Front Surg (2023)
Keywords: case report, countermeasures, fracture, indwelling catheter, scalp vein
MeSH terms: Case Reports

As a substitute for a scalp needle, the intravenous indwelling needle is easy to operate and easy to use. it is not only conducive to the rescue of critically ill children, improves nursing efficiency, but also avoids pain caused by repeated venipuncture. However, cases of indwelling needle catheter breaking and remaining in scalp vessels are rarely reported. This study collected 12 cases of scalp vein indwelling needle rupture and retention in scalp vessels in our center from January 2012 to January 2022. It was found that there were 7 males and 5 females, with an average age of 19.17 ± 8.96 months. The average length of the severed end was 15.00 ± 1.54 mm. In 8 cases, the catheter was broken during the haircut, and in 2 cases, the wall structure was damaged and broken after repeated folding of the catheter. In 2 cases, the children did not cooperate during extubation, the head twisted violently and the catheter was broken.5 cases tried to extract it by manipulation and hemostatic forceps, of which 4 cases were successful, and 1 case was successfully removed after the completion of three-dimensional computerized tomography (3D-CT) imaging positioning. The remaining 7 cases were removed by operation, and the success rate of the first operation was 100% in 4 cases who chose 3D-CT. The other 3 cases chose ordinary CT plain scan positioning, the success rate of the first operation was 66.6%, and one child was successfully removed after the second operation after the failure of the operation plus 3D-CT scan positioning. All the children were in stable condition after the operation and were discharged smoothly. When the broken catheter is relatively shallow and the scalp is not completely closed, we could choose the preliminary positioning of B-ultrasound or ordinary CT, and then try to remove it by manual squeezing combined with hemostatic forceps. However B-ultrasound and ordinary CT could not meet the requirements of accurate location, 3D-CT has a very important localization value for surgery, which can improve the success rate and help successfully remove the ruptured catheter.
Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia
Authors: Stephen E Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, Amjad Hayat
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL.