OpenMed/multicare-articles huggingface dataset:
A pulmonary enteric adenocarcinoma patient harboring a rare EGFR exon 19 P753S mutation: Case report and review
Authors: Xiaohu Xu, Dong Chen, Xiao Wu, Qi Wang
Journal: Front Oncol (2022)
Keywords: egfr mutation, kras, tp53, case report, pulmonary enteric adenocarcinoma
MeSH terms: Case Reports

Pulmonary enteric adenocarcinoma (PEAC) is a rare subtype of non-small cell lung cancer (NSCLC), accounting for about 0.6% of all primary lung adenocarcinoma. Although epidermal growth factor receptor (EGFR) mutation is common in primary lung adenocarcinoma, it is rarely reported in PEAC. This case report describes a PEAC patient with co-mutations of EGFR, Kirsten rat sarcoma viral oncogene (KRAS), and TP53, being treated with immunotherapy combined with chemotherapy. A 69-year-old man complained of cough and expectoration with bloody sputum for 2 weeks. The lung-enhanced CT scan showed a massive soft tissue shadow, about 46 × 35 mm in the lower lobe of the right lung. The neoplasm sample in the lower lobe of the right lung was obtained using CT-guided fine-needle aspiration (FNA). Immunohistochemical assays showed that the tumor was positive for CK7, CDX-2, C-MET, and villin. Gastroscopy and rectal colonoscopy had been performed respectively to exclude a diagnosis of colorectal adenocarcinoma. The patient was finally diagnosed with pulmonary intestinal adenocarcinoma. Next-generation sequencing (NGS) analysis showed a rare EGFR exon 19 missense mutation (c.2257C>T, p.P753S), KRAS exon 2 missense mutation (c.35G>T, p.G12V), and TP53 exon 5 missense mutation (c.401T>C, p.F134S). The lung-enhanced CT scan showed that the tumor shrank after four cycles of chemotherapy combined with immunotherapy. We hope that this case report can increase the understanding of this rare type of tumor and provide new molecular indications for diagnosis and individualized treatment. Furthermore, the combination of chemotherapy and immunotherapy seems to be an effective therapy for PEAC. Whether the use of immunotherapy can provide clinical benefits needs to be further explored with more samples in future studies.
Schwannomatosis of the Spinal Accessory Nerve: A Case Report
Authors: Ramin A Morshed, Anthony T Lee, Young M Lee, Cynthia T Chin, Line Jacques
Journal: J Brachial Plex Peripher Nerve Inj (2019)
Keywords: diffusion tensor imaging, neck mass, schwannoma, schwannomatosis, spinal accessory nerve tumor
MeSH terms: Case Reports

Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previously reported in this disease context.
Estimation of Muscle Force Based on Neural Drive in a Hemispheric Stroke Survivor
Authors: Chenyun Dai, Yang Zheng, Xiaogang Hu
Journal: Front Neurol (2018)
Keywords: high-density surface electromyogram, motor unit decomposition, muscle weakness, neural control, neural drive, stroke
MeSH terms: Case Reports

Robotic assistant-based therapy holds great promise to improve the functional recovery of stroke survivors. Numerous neural-machine interface techniques have been used to decode the intended movement to control robotic systems for rehabilitation therapies. In this case report, we tested the feasibility of estimating finger extensor muscle forces of a stroke survivor, based on the decoded descending neural drive through population motoneuron discharge timings. Motoneuron discharge events were obtained by decomposing high-density surface electromyogram (sEMG) signals of the finger extensor muscle. The neural drive was extracted from the normalized frequency of the composite discharge of the motoneuron pool. The neural-drive-based estimation was also compared with the classic myoelectric-based estimation. Our results showed that the neural-drive-based approach can better predict the force output, quantified by lower estimation errors and higher correlations with the muscle force, compared with the myoelectric-based estimation. Our findings suggest that the neural-drive-based approach can potentially be used as a more robust interface signal for robotic therapies during the stroke rehabilitation.
Hypovolemic Shock Caused by Massive Renal Hematoma After a Third Consecutive Extracorporeal Shockwave Lithotripsy Session: A Case Report
Authors: Loic Sermeus, Kathy Vander Eeckt, Dieter Ost, Marcel Van Den Branden
Journal: J Endourol Case Rep (2016)
Keywords: complication, extracorporeal shockwave lithotripsy, hypovolemic shock, interval, multiple sessions, renal hematoma
MeSH terms: Case Reports

Extracorporeal shockwave lithotripsy (SWL) is a commonly used technique for treating urinary calculi. Although noninvasive, highly effective, and widely accepted, SWL is not without complications. Next to fragmenting the calculi, the surrounding tissue is damaged, which can result in renal hematoma, a well-described complication. In most cases, the collateral tissue damage is mild and resolves with conservative treatment. However, rarely, severe complications may arise. Here we present a case of a 46-year-old male who developed a massive hematoma, both subcapsular and retroperitoneal, after a third consecutive SWL session, resulting in hypovolemic shock. Different probable causes are proposed, of which one cause, the length of the interval between SWL sessions, is not yet studied properly. Probably, short intervals keep the damaged tissue from healing sufficiently, as proposed in our case. Possibly, life-threatening situations can be avoided if more evidence-based guidelines are available.
A rare case of spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema in the II stage of labour
Authors: Viktor Oshovskyy, Yevheniia Poliakova
Journal: Int J Surg Case Rep (2020)
Keywords: hamman's syndrome, pneumomediastinum, pneumothorax, subcutaneous emphysema
MeSH terms: Case Reports

Background:
Pneumomediastinum associated with pneumothorax and subcutaneous emphysema also known as Hamman's syndrome is a rare obstetric complication that usually happens during the second stage of labor. The causal mechanism of Hamman's syndrome is thought to be due to excessive intrathoracic pressure associated with Valsalva maneuver which leads to distal alveolar rupture. The released alveolar air from alveolar rupture dissects along the vascular sheets down a pressure gradient toward the pulmonary hila and into the mediastinum. Prognosis is generally favorable.
Case presentation:
We report the case of physiologic pregnancy in a multipara parturient, which was complicated in the late second stage of labor with subcutaneous emphysema, pneumomediastinum, and severe pneumothorax. Recovery occurred after seven days of active management and a chest tube insertion. No complications were seen afterwards.
Conclusion:
Pneumomediastinum associated with pneumothorax and subcutaneous emphysema in the absence of an obvious precipitating cause is a rare obstetric complication and is called "Hamman's syndrome". The incidence of relapse is unknown, due to the number of reported cases. It could be reasonable to develop a delivery plan at 37 weeks of gestation for women with the history of Hamman syndrome. In case of tendency for a large fetus it might be wise to consider earlier induction of childbirth. Non-aggressive management of the second period of childbirth is recommended. In case of prolonged labour surgical delivery by caesarean section could be considered.
Tectal etiology for irrepressible saccades: a case study in a Rhesus monkey
Authors: James W Gnadt, Christopher T Noto, Jagmeet S Kanwal
Journal: F1000Res (2013)

Brain circuits controlling eye movements are widely distributed and complex. The etiology of irrepressible square wave saccades is not fully understood and is likely different for different neuropathologies. In a previous study, spontaneously occurring irrepressible saccades were noted after a cerebrovascular accident that damaged the rostral superior colliculus (SC) and its commissure in a Rhesus monkey. Here, we tracked and quantified the development of similar symptoms in a Rhesus monkey caused by a lesion in the rostromedial SC and its commissure. We documented the changes in these saccadic intrusions while the monkey attempted fixation of a target on three consecutive days post-onset. On the first day, eye jerk amplitude was ~10 degrees and the direction was ~30 degrees above the left horizontal meridian. On the second day, the amplitude decreased to 6.5 degrees and the direction shifted towards vertical, ~20 degrees to the left of the vertical meridian. Size, but not direction, of the eye jerks continued to decrease until intrusions dissipated within one month. Histological examination after ~6 months from the first appearance of the intrusions revealed a lesion in the commissure of the SC. Results from this and the previous study confirm the involvement of the commissure of the SC as the common target for triggering this neuropathy. Our data suggest that commissural fibers play an important role in maintaining normal visual stability. Interrupting the commissure between the two superior colliculi causes saccadic intrusions in the form of irrepressible jerking of the eyes, probably by disrupting inhibitory signals transmitted through the commissure. Furthermore, disappearance of the symptoms suggests that inhibitory fields within the SC are plastic and can expand, possibly via inputs from inter-collicular and nigrotectal pathways.
Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/ β-Catenin Complex and Associated Genetic Alterations
Authors: Maria Del Valle Estopinal, Lavinia P Middleton, Bita Esmaeli, Keyur P Patel, Sara Nowroozizadeh, Michelle D Williams
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Signet Ring Cell (SRC)/Histiocytoid carcinoma of the eyelid is a rare neoplasm that shares histological and immunohistochemical similarities with diffuse gastric cancer and breast lobular carcinoma. The CDH1 gene, which encodes the E-cadherin protein, is the best known gene associated with these tumors. The structural and functional integrity of E-cadherin is regulated by interconnecting molecular pathways which might participate in the development of this disease. Hence, we analyzed the protein expression in key genes in E-cadherin-related pathways associated with primary SRC/Histiocytoid carcinoma of the eyelid. SRC/Histiocytoid carcinoma diagnosed in the eyelid/orbit at MD Anderson Cancer Center from 1990 to 2016 were evaluated. Clinicopathologic findings were studied to confirm the primary site of origin. Immunohistochemical studies for the expression of E-cadherin, β-catenin, c-Myc, Cyclin D1, Src, and p53 were analyzed. Next generation sequencing for the detection of somatic mutations was performed on each tumor with matched normal tissue, examining 50 cancer-related genes. Four primary SRC/Histiocytoid carcinomas of the eyelid were diagnosed in four male patients aged 40-82 years. Immunohistochemically, two tumors with loss of E-cadherin expression had weak β-catenin and low cytoplasmic staining for Src while the other two cases with intact E-cadherin showed strong β-catenin expression and high cytoplasmic expression for Src. Cyclin D1 was focally positive in three cases. Somatic mutations in CDH1, PIK3CA, and TP53 genes were detected in two cases. Our results suggest an abnormality in the convergence of E-cadherin/β-catenin pathways which may promote tumorigenesis by inducing expression of oncogenes such as Cyclin D1 and C-Myc. Mutations in CDH1, PIK3CA, and TP53 genes could induce E-cadherin dysfunction which takes part in the development and progression of this malignancy.
A Case Report on Pasteurella multocida Peritoneal Dialysis-Associated Peritonitis: When Cats Think Medical Equipment Are Toys
Authors: Saeid Mirzai, Ahmad Oussama Rifai, Aron Tidrick, Qitan Huang, Justin Hale
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Pasteurella multocida is an aerobic gram-negative coccobacillus usually found in the oral cavities of most healthy cats and dogs as part of their natural oral flora. This zoonotic pathogen can cause a variety of infections in humans through bites, scratches, or licking. Infections range from less severe cases, such as infected animal bites and cellulitis, to more severe cases of pneumonia, septic arthritis, osteomyelitis, sepsis, and meningitis. However, the number of reported cases of peritoneal dialysis-associated peritonitis caused by P. multocida has been limited worldwide. Here, we report the case of a 59-year-old man undergoing continuous cycling peritoneal dialysis who developed P. multocida peritonitis, believed to be secondary to domestic cat exposure to dialysis equipment. Due to the increasing trend of pet ownership, patients maintained on peritoneal dialysis should be educated on the importance of strict hygiene and avoiding pet contact with the dialysis equipment, especially in bag exchange areas. Although the best means of preventing such infections is to avoid having pets at home, the positive psychological effects of pet ownership should also be considered. Thus, patients in such situations should be continuously educated and encouraged to be mindful of the importance of environmental hygiene.
Not Your Everyday FCD: Imaging Findings of Focal Cortical Dysplasia Type 1
Authors: Stijn Marcelis, Stephanie Vanden Bossche, Sven Dekeyzer
Journal: J Belg Soc Radiol (2022)
Keywords: fcd type 1, epilepsy, focal cortical dysplasia
MeSH terms: Case Reports

Teaching Point: The imaging findings of focal cortical dysplasia type 1 are less well-known than focal cortical dysplasia type 2 and consist of increased white matter signal intensity and blurring of the gray-white matter in a large region of the brain, with associated segmental or lobar brain atrophy.
Anterior Half of the Peroneus Longus Tendon Combined with Semitendinosus and Gracilis Tendons for Anterior Cruciate Ligament Reconstruction: An Athlete Case Report
Authors: Diego Escudeiro de Oliveira, Melanie Mayumi Horita, Marconde de Oliveira E Silva, Victor Eduardo Roman Salas, Pedro Baches Jorge
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

In clinical practice, it is observed that the hamstring tendon graft, despite being first choice in knee ligament reconstruction, may not present adequate size. Therefore, it becomes necessary to search for other graft alternatives. In this context, the peroneus longus tendon arises as an option to replace or complement other grafts. The surgeon can opt to use the tendon in its totality or only its anterior half, presenting adequate length, diameter, and biomechanics, without major repercussions for the donor site. In this study, we report a case of an athlete in which the autologous hamstring tendon graft did not present the adequate diameter for anterior cruciate ligament reconstruction. It was, then, necessary to use the anterior half of the peroneus longus tendon.
Isolated Penile Calciphylaxis Diagnosed by Ultrasound Imaging in a New Dialysis Patient: A Case Report
Authors: Wryan Helmeczi, Tyler Pitre, Emma Hudson, Suhas Mondhe, Kevin Burns
Journal: Can J Kidney Health Dis (2021)
Keywords: calciphylaxis, diagnosis, penile, radiograph, ultrasound
MeSH terms: Case Reports

Rationale:
The recognition of calciphylaxis often eludes practitioners because of its multiple ambiguous presentations. It classically targets areas of the body dense with adipose tissue. A heightened suspicion for the disorder is therefore required in the case of penile calciphylaxis, given its unconventional location. The diagnosis of calciphylaxis is also challenging as the gold standard for diagnosis is biopsy which can often yield equivocal results. Unfortunately, in penile calciphylaxis, the utility of biopsies is further debated due to their potential to precipitate new lesions and their decreased sensitivity due to the limited depth of tissue that can be sampled. For these reasons, it is important that practitioners recognize other accessible and accurate investigative tools which can aid in their diagnosis.
Presenting concerns of the patient:
We present the case of a 49-year-old man who presented to the emergency room with penile pain in the context of known chronic kidney disease secondary to diabetic nephropathy. The pain had been present for about a week, was exquisitely tender, and was initially associated with a faint violaceous lesion. This gentleman had just recently initiated peritoneal dialysis and had no other lesions on his body.
Diagnosis:
His pain was determined by ultrasound and plain radiograph to be secondary to calciphylaxis after two biopsies were nondiagnostic.
Interventions:
The patient had already made changes to his diet to reduce phosphate and calcium intake, and had been on phosphate-lowering therapy with both calcium and phosphate being within their respective target range. Following his diagnosis, this patient was promptly converted from peritoneal dialysis to hemodialysis with sodium thiosulphate and initiated hyperbaric oxygen therapy. This patient continues to be followed by nephrology and urology specialists.
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Authors: Farzad Ashrafi, Hossein Pakdaman, Mehran Arabahmadi, Behdad Behnam
Journal: Emerg (Tehran) (2017)
Keywords: leigh disease, craniocerebral trauma, precipitating factors
MeSH terms: Case Reports

Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. It is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. In some of the inherited neurodegenerative diseases like Alexander disease, head trauma is reported as a trigger for onset of the disease. We present a late onset Leigh syndrome in a 14-year-old girl whose symptoms were initiating following head trauma.
Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome
Authors: Julian Adlard, Cathy Burton, Philip Turton
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

We report a case of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) occurring in a 53-year-old female with Li Fraumeni syndrome (LFS) with a prior history of breast cancer. We present the clinical features, investigation, and management of this patient and potential mechanisms that could explain the increasing association of BIA-ALCL and LFS.
Case Report: Novel Arylsulfatase A ( ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis
Authors: Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng
Journal: Front Neurol (2021)
Keywords: adult onset, arylsulphatase a, deletion mutation, metachromatic leukodystrophy, visual dysfunction
MeSH terms: Case Reports

Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as multiple sclerosis. Through genetic screening, this patient was later identified to have a full deletion of exon 4 and the novel p.P220L mutation in the arylsulfatase A (ARSA) gene. These mutations are reported for the first time in MLD. These data will help to update the mutation profiles of patients with MLD.
Congenital epidermal nevus
Authors: Bhawna Arora, Vineet Inder Singh Khinda, Nitika Bajaj, Gurlal Singh Brar
Journal: Int J Clin Pediatr Dent (2014)
Keywords: cryosurgery, dermabrasion, epidermal, nevi, nevus
MeSH terms: Case Reports

Epidermal nevi are hamartomas that are characterized by hyperplasia of the epidermis and adnexal structures, and may be associated with serious disfiguration. Germline mutations in the FGFR3 gene have found to be the etiology of epidermal nevus. Patients often seek treatment from dermatologic surgeons but even an alert dentist can help to diagnose the lesion from its clinical appearance. Various treatment modalities are available and it is the clinician's choice to choose depending upon the patient's condition. How to cite this article: Arora B, Khinda VIS, Bajaj N, Brar GS. Congenital Epidermal Nevus. Int J Clin Pediatr Dent 2014;7(1): 43-46.
Family Aggregation of HTLV-1 Infection Associated with FAS -670A/G Polymorphism: A Case Report
Authors: Antonio C R Vallinoto, Bárbara B Santana, Maria A F Queiroz, Andrea N M R da Silva, Izaura M V Cayres-Vallinoto, Carlos A da Costa, Maisa S de Sousa, Ricardo Ishak
Journal: Front Microbiol (2018)
Keywords: fas gene, mbl gene, family cluster, genetic polymorphism, human t-lymphotropic virus 1

Human T-lymphotropic virus 1 (HTLV-1) infection has been associated with ATL and inflammatory diseases but remains a neglected health problem. HTLV-1 associated diseases were originally described as sporadic entities, but family aggregations have been reported. Viral, genetic, immunological and behavioral factors were used to explain family clusters, but until now a clear explanation remains uncertain. In the present study we report, for the first time, a family cluster of diseased persons presenting the infection across three generations associated with FAS -670A/G polymorphism.
Case Report: Multimodality Imaging as a Lifeline for Fatal Localization of Valsalva Sinus Fibroelastoma
Authors: Snezana Tadic, Aleksandra Ilic, Maja Stefanovic, Anastazija Stojsic-Milosavljevic, Tanja Popov, Marija Bjelobrk, Aleksandra Milovancev, Nebojsa Maksimovic, Patrik Drid
Journal: Front Cardiovasc Med (2021)
Keywords: valsalva sinus, acute coronary syndrome, cardiac surgery, left coronary artery, multimodality imaging, ostium, papillary fibroelastoma
MeSH terms: Case Reports

Background: Papillary fibroelastomas are rare benign heart tumors, and is most likely to involve the cardiac valves. We will present an extremely rare localization of a large Valsalva sinus fibroelastoma, with occasional left coronary artery ostial obstruction presented as an acute coronary syndrome. The tumor was removed surgically and histologically confirmed as papillary fibroelastoma. This review points to the crucial importance of multidisciplinary team decision and multimodality imaging methods for diagnosing the fibroelastoma, determination of size, and localization, which avoided complications of fatal embolization during an invasive procedure. Case Summary: A healthy 55-year-old male with vigorous physical daily training and exercise was admitted to the acute coronary syndrome emergency department. Shortly after admission, expert transthoracic echocardiography was performed. Computed tomography of the chest observed a large irregular hypodense tumor-like lesion in the bulbar aorta that was occasionally prolapsing into the left main coronary artery ostium and which corresponded to fibroelastoma. A few hours after admission, an emergency cardiac surgery was performed with the excision of a Valsalva sinus tumor (size 2 × 2 cm) located between the right and left coronary cusp of the aortic valve. Conclusions: Focus cardiac ultrasound should be performed for any acute coronary syndrome because of the possible Valsalva sinus fibroelastoma etiology. Its localization next to the left main coronary artery ostium is rare, and dangerous. The timely diagnosis can be made by the multimodality imaging method, however, the final diagnosis will be made pathohistologically. Early cardiac surgery may be a necessitated recourse for these patients in order to prevent a fatal outcome.