OpenMed/multicare-articles huggingface dataset:
Case Report: Clinicopathological characteristics of patients with gastric cancer with features of a submucosal tumour
Authors: Chunnian Wang, Fusang Ye, Huan Zhang, Jie Chen, Lingli Meng, Xianglei He
Journal: Front Oncol (2023)
Keywords: clinicopathological characteristics, differential diagnosis, gastric cancer, pathological diagnosis, submucosal tumour
MeSH terms: Case Reports

Purpose:
To investigate the clinicopathological characteristics, diagnosis and key points in the differential diagnosis of patients with gastric cancer (GC) with features of a submucosal tumour (GCSMT).
Methods:
The clinical presentation and imaging findings of four GCSMT cases diagnosed at our centre from 2016 to 2021 were observed and their clinicopathological outcomes were analysed. The related literature was reviewed. Based on our collected data and the related literature, a total of 31 cases of GCSMT can be summarized.
Results:
22 out of 31 cases did not present obvious symptoms and were accidentally discovered during gastroscopic examination. Only 10 patients experienced symptoms such as gastric discomfort, upper abdominal swelling and pain, haematemesis, or haematochezia. The male to female ratio was 22:9 and the age of onset ranged from 40 to 81 years (median age: 63 years). Tumours were located in the upper and middle third of the stomach (24/31), and in the lower third(7/31). The tumour diameter ranged from 0.6 to 7.3 cm, with an average value of 2.5 cm. Endoscopically, the disease manifested as SMTs, with the gastric mucosal surface appearing normal. Most patients underwent radical gastrectomy for GC (80.6%, 25/31). The pathological diagnoses of the 31 cases of GCSMT included well- and moderately-differentiated adenocarcinoma (6/31), poorly differentiated adenocarcinoma or signet ring cell carcinoma 6/31), mucinous adenocarcinoma (9/31), lymphoepithelioma-like carcinoma (7/31), gastric adenocarcinoma of the fundic gland type (3/31). Stage T1b and T2 tumours accounted for 56.7% (17/30) and 26.7% (8/30) of all cases. Lymph node metastases were found in six cases (20.0%, 6/30), whereas distant metastasis was not observed in any of the cases. For the 16 patients whose follow-up data were available, the follow-up time was 5-66 months, during which recurrence or metastasis was not observed.
Conclusion:
GCSMT is a rare disease that is often difficult to accurately diagnose through endoscopic biopsy. The importance of gaining an understanding of this disease lies in differentiating it from other SMTs (mostly mesenchymal tumours) to avoid misdiagnosis and missed diagnosis and enable the early diagnosis and treatment of patients.
Primary Cardiac Synovial Sarcoma: A Case Report
Authors: Mahmood Hosseinzadeh Maleki, Moein Aboobakri Makouei, Farbod Hatami, Reza Zeinabadi Noghabi
Journal: J Tehran Heart Cent (2017)
Keywords: cardiac surgical procedures, echocardiography, heart neoplasms, sarcoma
MeSH terms: Case Reports

Primary cardiac sarcomas are rare clinical entities with an incidence rate of 0.0001% in collected autopsy series and are regarded as very aggressive tumors. We herein describe a 21-year-old woman presenting with syncope, dyspnea, and abdominal distention. She suffered from massive ascites, plural effusion, and liver congestion demonstrated by abdominal sonography and chest X-ray. Transthoracic echocardiography revealed a heterogeneous solid mass located in the right atrium; therefore, the patient underwent radical surgical excision of the tumor and 3 cycles of adjuvant chemotherapy. Fifteen months after surgery, she was having a favorable life quality without any evidence of recurrence.
Critical Illness Associated Fatal Hypoglycemia in a Nondiabetic Male
Authors: Amit Toor, Anika Toor, Mahesh Krishnamurthy
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

We present here the case of a 55-year-old male who presented to the emergency department with severe abdominal pain and respiratory distress secondary to mesenteric ischemia. His critical illness on preexisting chronic kidney disease, previously undiagnosed alcoholic cirrhosis, and congestive heart failure led to a rare yet fatal consequence of refractory hypoglycemia. Critical illness associated hypoglycemia generally occurs as a result of high metabolic consumption with relative insulin excess and insufficient nutritional intake that is seen frequently in critically ill patients. This, along with reduced hepatic and renal gluconeogenesis seen in preexisting liver and renal disease, can cumulate to life-threatening hypoglycemia and is seen as a poor prognostic factor in the ICU setting.
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
Authors: Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu'e Chen, Yuying Jiang, Yingjun Xie, Gaoxiong Wang
Journal: Front Genet (2022)
Keywords: kcnh2, lqts, chromosomal array analysis, tetralogy of fallot, whole-exome sequencing
MeSH terms: Case Reports

Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death. Limited reports indicated that the KCNH2 mutations would result in LQT2 combined with tetralogy of fallot. Our goal was to present an additional case of LQT2 combined with the tetralogy of fallot in a fetus with a novel KCNH2 mutation. Case presentation: Enrolled in this study was a 23-year-old pregnant woman from Quanzhou Fujian province, China. In her pregnancy, fetal ultrasound anomalies were identified, including tetralogy of fallot, coronary sinus enlargement, and persistent left superior vena cava. No chromosomal abnormality was detected by fetal karyotype analysis. However, 238.1-kb duplication in the 2q14.2 region containing the GLI2 gene was observed in the fetus by chromosomal array analysis, which was inherited from the mother with normal clinical features and interpreted as a variant of uncertain significance (VOUS). Furthermore, whole-exome sequencing (WES) detection identified a novel nonsense c.1907C > G (p.S636*) mutation in the KCNH2 gene in the fetus, and it was classified as a likely pathogenic variant, according to the ACMG guidelines. Parental verification analysis indicated that c.1907C > G (p.S636*) mutation was inherited from the mother. Conclusion: In this study, we believe that 2q14.2 duplication may not be the reason for fetal heart defects; moreover, we described an additional case with KCNH2 gene mutation, which may lead to LQTS and be associated with congenital heart defects. In addition, our study further confirms the application value of the WES technology in prenatal genetic etiology diagnosis of fetuses with structural anomalies and unexplained structural variants.
Case report: Emergency treatment of late-presenting congenital diaphragmatic hernia with tension gastrothorax in three Chinese children
Authors: Rui Guo, Lina Zhang, Shisong Zhang, Hongxiu Xu, Yunpeng Zhai, Huashan Zhao, Longfei Lv
Journal: Front Pediatr (2023)
Keywords: congenital diaphragmatic hernia, emergency treatment, endoscopic surgery, latepresenting, tension gastrothorax
MeSH terms: Case Reports

Background:
Congenital diaphragmatic hernia (CDH) is a scarce birth defect. It is called late-presenting CDH when symptoms are found after 1 month of life. The clinical manifestations of late-presenting CDH are diverse, among which the most fatal is the cardiac arrest caused by tension gastrothorax. The disease is rare, can easily lead to death owing to improper emergency treatment. This report illustrates the emergency treatment of late-presenting CDH with tension gastrothorax in three Chinese children.
Case reports and management:
Three children presented to emergency room with a sudden dyspnea, diagnosed accurately by x-ray or computed tomography. In case 1, the gastric tube could not be inserted at the first attempt, and the child cried incessantly. Cardiac arrest occurred when the gastric tube was re-inserted. After cardiopulmonary resuscitation and placement of a thoracic drainage tube, a large amount of gas and stomach contents were drained. Laparoscopic surgery was performed. The patient died of sepsis. In case 2, the gastric tube could not be inserted at the first attempt; consequently, emergency surgery was considered instead of retrying. After the patient was anesthetized, a gastric tube was successfully placed. Subsequently, a large amount of gas and gastric contents was drained, and thoracoscopic surgery was performed. The patient recovered evenly. In case 3, the gastric tube was successfully inserted at the first attempt; however, the vital signs were unstable due to poor drainage of the gastric tube. We injected 20 ml of iohexol into the stomach tube for angiography and dynamic chest film monitoring. After adjusting the position of the stomach tube, the stomach collapsed completely. Thoracoscopic surgery was performed. The patient recovered evenly.
Conclusion:
Early diagnosis is essential for children with late-presenting CDH complicated by tension gastrothorax. Fully collapsing the stomach is a key step in emergency treatment. In addition, gastric tube insertion is the first choice. In children with difficulty in gastric tube placement at the first attempt, the gastric tube can be placed under anesthesia, and emergency surgery performed simultaneously. Endoscopic surgery can be the first choice in cases of complete stomach collapse.
Videocapsule retention: role of surgical treatment (a case report)
Authors: Rachid Boufettal, Yassine Fahmi, Saad Rifki Jai, Farid Chehab
Journal: Pan Afr Med J (2015)
Keywords: video capsule, retention, small bowel stenosis, stricturoplasty, surgical extraction
MeSH terms: Capsule Endoscopy / adverse effects, Foreign Bodies / surgery, Intestinal Obstruction / etiology, Case Reports, Adult, Capsule Endoscopy / methods, Crohn Disease / diagnosis, Female, Humans, Intestinal Obstruction / surgery

Video capsule endoscopy (VCE) is a safe innovative tool for investigating obscure gastrointestinal diseases. The capsule is usually excreted with faeces within 24-48 h. Retention of capsule rarely occurs, and it usually depends on the indication of VCE. Retention may long remain asymptomatic or manifest as subocclusif syndrome. Acute complications of retention are very rare but can be life-threatening illness. Surgical approach is considered effective to retrieve the retained capsule, treat the pathology responsible and prevent acute complications. We report the case of a 30 years old patient, followed for Crohn's disease. She received during the assessment reviewed by VCE that has been held for three months. The retention caused subocclusif symptoms of which had needed surgically procedure. Treatment consisted of remove the VCE and repair of stenosis of small bowel by stricturoplasty.
Anterior Papillary Muscle Rupture due to Acute Myocardial Microinfarction of the Small High Lateral Branch
Authors: Takanori Kono, Kazuyoshi Takagi, Shinya Negoto, Eiki Tayama
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Papillary muscle rupture is a catastrophic condition, of which most cases manifest posterior papillary muscle rupture. Anterior papillary muscle rupture is a rare condition. Particularly, anterior papillary muscle rupture due to acute myocardial microinfarction of the small high lateral branch is extremely rare. Since papillary muscle rupture can occur even in such a small branch or small area due to myocardial infarction, echocardiographic and/or ventriculographic confirmation is essential in cases of sudden worsening of heart failure. Herein, we report the case of anterior papillary muscle rupture with a good outcome. A 61-year-old man was admitted to our hospital with cardiogenic shock. Echocardiography revealed severe mitral regurgitation due to papillary muscle rupture. Coronary angiography demonstrated high-grade stenosis in the high lateral branch. However, no other significant stenoses were found. Emergency mitral valve replacement was performed. The patient was discharged 19 days after surgery without any complications.
Intracardiac biopsy of cardiac tumors with echocardiographic guidance: Case report
Authors: Jinyun Zhu, Ning Zhang, Qunchao Ma, Luhang Jin, Xiaohong Pan
Journal: Front Cardiovasc Med (2023)
Keywords: case reports, endomyocardial biopsy, intracardiac echocardiography, primary cardiac tumor
MeSH terms: Case Reports

Background:
Primary cardiac tumors are very rare, and about 20-30% of them are malignant tumors. Since early signs of cardiac tumors are non-specific, diagnosis can be challenging. There is a lack of the recommended guidelines or standardized strategies for diagnosis and optimal treatment for this disease. As the definite diagnoses of most tumors are made by pathologic confirmation, biopsied tissue is essential in determining the treatment for patients with cardiac tumors. Recently, intracardiac echocardiography (ICE) has been introduced to assist biopsy procedures of cardiac tumors and it provides high-quality imaging.
Case description:
Due to its low prevalence and variable presentation, cardiac malignant tumors usually are easily missed. Hereby, we report three cases of patients who presented with non-specific signs of cardiac disorder and was initially suspended diagnosis as lung infection or cancer. Under the guidance of ICE, cardiac biopsies were successfully on cardiac masses, giving critical data for diagnosis and treatment planning. No procedural complications were obtained in our cases. These cases are intended to highlight the clinical value and importance of ICE-guided biopsy of intracardiac mass.
Conclusions:
The diagnosis of primary cardiac tumors relies on the histopathological results. In our experience, using ICE for biopsy of an intracardiac mass is an attractive tool to increase diagnostic results and reduce the risk of cardiac complications associated with inadequate targeting of the biopsy catheters.
Metastasis occurring eleven years after diagnosis of human papilloma virus-related oropharyngeal squamous cell carcinoma
Authors: Jessica Ley, Tanya Wildes, Samir El-Mofty, Douglas Adkins
Journal: Ecancermedicalscience (2014)
Keywords: human papilloma virus, oropharynx, p16
MeSH terms: Case Reports

Human papilloma virus (HPV)-related oropharyngeal squamous cell carcinoma (OPSCC) is associated with a favourable prognosis, although approximately 20-25% of patients ultimately develop recurrent cancer. Most disease recurrence events appear within 3 years; however, long-term follow-up of reported studies are limited, and the risk of late recurrence is unknown. We present a case report of a patient who developed distant metastases of HPV-related SCC 11 years after initial diagnosis and treatment of HPV-related OPSCC. Late disease recurrence may occur after initial diagnosis of HPV-related OPSCC. This observation has implications on the appropriate duration of follow-up and surveillance of these patients.
Clinical Features of Four West Nile Virus Cases and Its Molecular Characterization from a South Indian Tertiary Care Hospital
Authors: Shoba Mammen, Aiswarya Nair, Santhosh Kumar, Zayina Zonderveni, A T Prabhakar, Turaka Vijay Prakash, Sanjith Aaron, Mathew Alexander, Anand Zachariah, Asha Mary Abraham
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

West Nile virus (WNV) is currently a significant reemerging virus of the 21st century. It belongs to the family Flaviviridae and genus Flavivirus. Although it is primarily transmitted by the Culex spp of mosquitoes, other routes of transmission are also well defined. Of eight lineages described, Lineage 1a has been reported from many parts of South India and is known to cause neuroinvasive illness. Many tests and serological techniques have been described to diagnose WNV infection such as complement fixation, neutralization, heamagglutination inhibition, ELISA, and PCR for molecular confirmation. The latter far outweighs the limitations inherent in the other tests. WNV infection is being reported from Vellore for the first time after 1968. This paper aims to describe four cases of WNV infection causing central nervous system manifestations with its molecular characterization. West Nile virus infection was diagnosed with the available molecular techniques such as PCR and sequencing, which emphasizes the need for considering West Nile virus in the differential diagnosis of acute meningoencephalitis and the wider availability of molecular diagnostic tests.
Concurrent Phacoemulsification and Encircling for Hypotony Maculopathy after Blunt Trauma
Authors: Takayuki Baba, Hirotaka Yokouchi, Shuichi Yamamoto
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

A 37-year-old Japanese man had his right eye hit by a fist. His right eye developed hypotony maculopathy and secondary cataract, and his visual acuity decreased to 20/200 with an intraocular pressure of 4 mmHg. He underwent phacoemulsification and aspiration, implantation of the intraocular lens, and encircling with a silicone tire. His visual acuity improved to 20/20 and stable for more than one year postoperatively. The intraocular pressure in his right eye increased to 12 mmHg, and maculopathy was resolved entirely. It was suggested that an encircling buckle obstructed the uveoscleral outflow through the cyclodialysis and increased intraocular pressure. Concurrent cataract surgery and encircling was sufficient to improve the vision.
Anastomosing Haemangioma: Report of Three Cases With Molecular and Immunohistochemical Studies and Comparison With Well-Differentiated Angiosarcoma
Authors: Yi-Che Chang Chien, Livia Beke, Gábor Méhes, Attila Mokánszki
Journal: Pathol Oncol Res (2022)
Keywords: gna11 mutation, anastomosing haemangioma, angiosarcoma, fluorescence in situ hybridization (fish), immunohistochemistry (ihc), next-generation sequencing (ngs)
MeSH terms: Hemangioma / genetics, Hemangioma / pathology, Hemangiosarcoma / genetics, Hemangiosarcoma / pathology, Case Reports, Endothelial Cells / pathology, Humans, In Situ Hybridization, Fluorescence, Tumor Suppressor Protein p53 / genetics, Tumor Suppressor Protein p53

Anastomosing haemangioma (AH) is a newly described distinct vascular neoplasm that histologically may confuse with well-differentiated angiosarcoma (AS) for those who are unfamiliar with this rare entity. We aimed to identify molecular genetic differences between AHs and ASs by carrying out immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Immunohistochemically, all six cases showed positivity for cyclinD1 and pERK. All cases of AH showed focal weak positive reaction for p53 and MIB-1, and the IHCs for HIF-1α were all negative for all three cases. Those three cases of angiosarcoma revealed strong, diffuse positivity for p53, 50%-70% MIB-1 labelling, and multifocal, moderate to strong HIF-1α expression. To further clarify the difference in p53 expression, we carried out a FISH which revealed 17p polysomy in all three ASs whereas copy number aberration was absent in the AH group. In one AH case, the GNA11 c.627G > T nucleotide variant was detected. Due to the rarity and overlapping morphological features, AH might be difficult to separate from other vascular tumours, in particular from well-differentiated AS also featured by mild hyperchromatic, hobnail-like endothelial cells. The potential molecular differences between these two entities presented here may be used in support of the correct diagnosis.
Metronome Cueing of Walking Reduces Gait Variability after a Cerebellar Stroke
Authors: Rachel L Wright, Joseph W Bevins, David Pratt, Catherine M Sackley, Alan M Wing
Journal: Front Neurol (2016)
Keywords: auditory cueing, cerebellar stroke, gait ataxia, gait kinematics, gait variability, rhythmic auditory stimulation
MeSH terms: Case Reports

Cerebellar stroke typically results in increased variability during walking. Previous research has suggested that auditory cueing reduces excessive variability in conditions such as Parkinson's disease and post-stroke hemiparesis. The aim of this case report was to investigate whether the use of a metronome cue during walking could reduce excessive variability in gait parameters after a cerebellar stroke. An elderly female with a history of cerebellar stroke and recurrent falling undertook three standard gait trials and three gait trials with an auditory metronome. A Vicon system was used to collect 3-D marker trajectory data. The coefficient of variation was calculated for temporal and spatial gait parameters. SDs of the joint angles were calculated and used to give a measure of joint kinematic variability. Step time, stance time, and double support time variability were reduced with metronome cueing. Variability in the sagittal hip, knee, and ankle angles were reduced to normal values when walking to the metronome. In summary, metronome cueing resulted in a decrease in variability for step, stance, and double support times and joint kinematics. Further research is needed to establish whether a metronome may be useful in gait rehabilitation after cerebellar stroke and whether this leads to a decreased risk of falling.
Takotsubo cardiomyopathy as a delayed complication with a herbicide containing glufosinate ammonium in a suicide attempt: a case report
Authors: Keiichiro Tominaga, Manabu Izumi, Masayuki Suzukawa, Takafumi Shinjo, Yoshimitsu Izawa, Chikara Yonekawa, Masaki Ano, Keisuke Yamashita, Tomohiro Muronoi, Reiko Mochiduki
Journal: Case Rep Med (2012)

Background. Glufosinate ammonium has a famous delayed complication as respiratory failure, however, delayed cardiogenic complication is not well known. Objectives. The aim of this study is to report a takotsubo cardiomyopathy as a delayed complication of glufosinate ammonium for suicide attempt. Case Report. A 75-year-old woman ingested about 90 mL of Basta, herbicide for suicide attempt at arousal during sleep. She came to our hospital at twelve hours after ingesting. She was admitted to our hospital for fear of delayed respiratory failure. Actually, she felt down to respiratory failure, needing a ventilator with intubation at 20 hours after ingesting. Procedure around respiratory management had smoothly done with no delay. Her vital status had been stable, however, she felt down to circulatory failure and diagnosed as Takotsubo cardiomyopathy at about 41 hours after ingestion. There was no trigger activities or events to evoke mental and physical stresses. Conclusion. We could successfully manage takotsubo cardiomyopathy resulted in circulatory failure in a patient with glufosinate poisoning for suicide attempt. Takotsubo cardiomyopathy should be taken into consideration if circulatory failure is observed for unexplained reasons.