OpenMed/multicare-articles huggingface dataset:
Rapid and effective fusion repair of severed digital nerves using neurorrhaphy and bioengineered solutions including polyethylene glycol: A case report
Authors: Stephen Lopez, George D Bittner, Richard C Treviño
Journal: Front Cell Neurosci (2023)
Keywords: semmes–weinstein monofilament test, wallerian degeneration, peripheral nerve injury, polyethylene glycol, repair digital nerves, two point discrimination test
MeSH terms: Case Reports

Peripheral nerve injuries (PNIs) that consist of simple nerve severance often result in severe motor impairment and permanent loss of function. Such patients face significant costs and pose major burdens to healthcare systems. Currently, the most promising surgical technique to achieve the best clinical outcome after such PNIs is immediate primary coaptation of severed nerve ends by microsutures (neurorrhaphy). However, recovery is often poor and delayed for many months due to Wallerian degeneration (WD) and slow (1-2 mm/day) axonal outgrowths from severed proximal axons that may not properly reinnervate denervated afferent/efferent targets that have atrophied. In contrast, recent pre-clinical studies using polyethylene glycol (PEG) to facilitate primary nerve repair have greatly improved the rate and extent of sensory and motor recovery and prevented much WD and muscle atrophy. That is, PEG-fused axons rapidly establish proximal-distal axoplasmic/axolemmal continuity, which do not undergo WD and maintain the structure and function of neuromuscular junction (NMJ). PEG-fused axons rapidly reinnervate denervated NMJs, thereby preventing muscle atrophy associated with monthslong denervation due to slowly regenerating axonal outgrowths. We now describe PEG-mediated fusion repair of a digital nerve in each of two patients presenting with a digital laceration resulting in total loss of sensation. The first patient's tactile perception improved markedly at 3 days postoperatively (PO). Two-point discrimination improved from greater than 10 mm at initial presentation to 4 mm at 11-week PO, and the Semmes-Weinstein monofilament score improved from greater than 6.65 to 2.83 mm, a near-normal level. The second patient had severe PO edema and scar development requiring a hand compression glove and scar massage, which began improving at 11-week PO. The sensory function then improved for 4 months PO, with both two-point discrimination and Semmes-Weinstein scores approaching near-normal levels at the final follow-up. These case study data are consistent with data from animal models. All these data suggest that PEG-fusion technologies could produce a paradigm shift from the current clinical practice of waiting days to months to repair ablation PNIs with autografts, anucleated nerve allografts, or conduits in which the patient outcome is solely dependent upon axon regeneration over months or years.
Primary Hepatic Leiomyoma in a Healthy Middle-Aged Woman: Literature Review and Case Report
Authors: Mihajlo Djokic, Benjamin Hadzialjevic, Bostjan Luzar, Blaz Trotovsek
Journal: Front Surg (2021)
Keywords: immunohistochemistry, leiomyoma, liver, neoplasm, primary hepatic leiomyoma, surgery
MeSH terms: Case Reports

Introduction: Primary hepatic leiomyoma (PHL) is a rare benign hepatic tumor with unclear pathogenesis. It more commonly occurs in immunosuppressed patients, while only 24 cases have been described among immunocompetent individuals. To date, only one successful preoperative diagnosis of PHL has been achieved. Case Presentation: Here we report a case of PHL in a middle-aged woman with no history of immunosuppression. Preoperative diagnosis of PHL was established using ultrasound-guided fine needle trucut biopsy (FNTB). Nevertheless, due to the growing nature of tumor and patient's symptoms, we proceeded with surgical resection, which confirmed the diagnosis of PHL. At 6-month follow up, the patient is in good condition with no evidence of tumor recurrence. Conclusions: PHL is an uncommon tumor that should be considered in the differential diagnosis of rare liver tumors. Image guided FNTB appears to be effective in achieving preoperative diagnosis of PHL. Surgical resection, however, remains both diagnostic and curative in the management of PHL.
Treatment Option for Abernethy Malformation-Two Cases Report and Review of the Literature
Authors: Yuese Lin, Xuandi Li, Shujuan Li, Hongjun Ba, Huishen Wang, Ling Zhu
Journal: Front Pediatr (2020)
Keywords: abernethy malformation, congenital portosystemic shunts(cpss), hepatopulmonary syndrome, pulmonary arteriovenous fistula (pavf), transcatheter shunt closure
MeSH terms: Case Reports

Background: Abernethy malformation is a rare vascular anomaly of the portal venous system, which is also known as congenital portosystemic shunts (CPSS). The clinical manifestations of this anomaly can be serious, including hepatopulmonary syndrome(HPS), which can lead to significant hypoxemia and cyanosis. Case Presentation: This study reports two cases of patients with Abernethy Malformation. Case 1 was a 6-year-old boy whose blood oxygen saturation was 78%. Case 2 was a 6-year-old girl who had a history of open heart surgery and residual cardiac left to right shunt, whose blood oxygen saturation was 83%. These two children had unexplained cyanosis and were diagnosed with pulmonary arteriovenous fistula by contrast echocardiography with agitated saline. A selective retrograde catheter angiography confirmed the presence of a portosystemic shunt. Case 1 was a type I Abernethy malformation and did not receive any specific treatment and could only wait for liver transplantation. Case 2 was with type II Abernethy and underwent transcatheter closure of the CPSS. A 20mm-diameter, 14mm-long Vascular Plug (SHSMA Inc, Shanghai, China) was used to occlude the shunt. Results: In case 1, the boy developed deteriorating cyanosis and dyspnea on exertion. In case 2, the exercise tolerance of the patient improved after shunt closure. During a follow-up of 3 years, her blood oxygen saturation increased from 83 to 98%. Conclusion: The results indicate that children with unexplained cyanosis require special attention since these patients may have Abernethy malformation, and part of them could be treated by transcatheter occlusion with a good outcome. The key to treatment is how it is diagnosed and carefully assessed.
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
Authors: Yingjie Zhu, Dongmei Chen
Journal: Front Pediatr (2022)
Keywords: arc syndrome, vps33b, genetics, novel mutation, prolonged survival
MeSH terms: Case Reports

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive disease caused by VPS33B and VIPAR gene mutations. The main clinical manifestations are congenital joint contracture, renal dysfunction mainly characterized by distal renal tubular dysfunction, and low glutamyltransferase cholestasis. Most patients with ARC die within 2 years of birth. Here, we report the case of a 12-year-old girl with an ARC phenotype who experienced long-term survival with only mild clinical symptoms. We detected two new heterozygous mutation sites of the VPS33B gene in this child, c.1081C > T (p.GLN361X, 257) and c.244T > C (p.Cys82Arg), through the gene detection technique; the tertiary structure of the protein was predicted by using the SWISS-model. We further reviewed the literature and summarized the clinical manifestations and gene loci of 19 ARC syndrome patients with long-term survival reported so far.
The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients
Authors: Azra Fatima, Shao Kaifeng, Sven Dittmann, Guoxing Xu, Manoj K Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jürgen Hescheler, Tomo Sarić
Journal: PLoS One (2013)
MeSH terms: Action Potentials / genetics, Long QT Syndrome / genetics, Long QT Syndrome / metabolism, Long QT Syndrome / pathology, Long QT Syndrome / physiopathology, Membrane Potentials / genetics, Myocytes, Cardiac / metabolism, Myocytes, Cardiac / pathology, NAV1.5 Voltage-Gated Sodium Channel / genetics, NAV1.5 Voltage-Gated Sodium Channel / metabolism, Pluripotent Stem Cells / metabolism, Pluripotent Stem Cells / pathology, Point Mutation, Case Reports, Clinical Trial, Research Support, Non-U.S. Gov't, Adult, Cell Differentiation / genetics, Cells, Cultured, Female, Humans, Male, NAV1.5 Voltage-Gated Sodium Channel, SCN5A protein, human

Long QT syndromes (LQTS) are heritable diseases characterized by prolongation of the QT interval on an electrocardiogram, which often leads to syncope and sudden cardiac death. Here we report the generation of induced pluripotent stems (iPS) cells from two patients with LQTS type 3 carrying a different point mutation in a sodium channel Nav1.5 (p.V240M and p.R535Q) and functional characterization of cardiomyocytes (CM) derived from them. The iPS cells exhibited all characteristic properties of pluripotent stem cells, maintained the disease-specific mutation and readily differentiated to CM. The duration of action potentials at 50% and 90% repolarization was longer in LQTS-3 CM as compared to control CM but this difference did not reach statistical significance due to high variations among cells. Sodium current recordings demonstrated longer time to peak and longer time to 90% of inactivation of the Na(+) channel in the LQTS-3 CM. This hints at a defective Na(+) channel caused by deficiency in open-state inactivation of the Na(+) channel that is characteristic of LQTS-3. These analyses suggest that the effect of channel mutation in the diseased CM is demonstrated in vitro and that the iPS cell-derived CM can serve as a model system for studying the pathophysiology of LQTS-3, toxicity testing and design of novel therapeutics. However, further improvements in the model are still required to reduce cell-to-cell and cell line-to-cell line variability.
An early presenting esophageal schwannoma
Authors: Shelly S Choo, Maurice Smith, Ashley Cimino-Mathews, Stephen C Yang
Journal: Gastroenterol Res Pract (2011)
MeSH terms: Case Reports

Esophageal schwannoma is a rare diagnosis and historically has been a tumor of middle-aged females. We report a case of a 22-year-old male presenting initially with dyspnea secondary to tracheal compression from an 8 × 6 × 3.0 cm esophageal schwannoma. The tumor was surgically resected, and diagnosis was confirmed with immunohistochemical and pathological studies. We report the youngest case of esophageal schwannoma in an otherwise healthy individual.
Case Report: Constrictive Pericarditis in a Patient With Isolated Anomalous Right Upper Pulmonary Venous Return
Authors: Rody G Bou Chaaya, Jeremy L Herrmann, Roopa Akkadka Rao, Mark D Fisch, Georges Ephrem
Journal: Front Cardiovasc Med (2020)
Keywords: cardiac mri, constrictive pericarditis, heart failure, partial anomalous pulmonary venous return (papvr), warden procedure
MeSH terms: Case Reports

Thirty-eight-year-old male presented for evaluation of abdominal swelling, lower extremity edema and dyspnea on exertion. Extensive work-up in search of the culprit etiology revealed the presence of an Anomalous Right Upper Pulmonary Venous Return (ARUPVR) into the Superior Vena Cava (SVC). During the attempted repair, the pericardium was found to be thickened and constrictive. Only one other case of co-existent partial anomalous pulmonary venous return and constrictive pericarditis (CP) has been reported. The patient underwent a warden procedure with pericardial stripping with good outcomes at 45 days post-operatively. Thus, the presence of severe heart failure symptoms in the setting of ARUPVR should prompt further investigations. Also, further cases are needed to help guide management in these patients.
Management of Submassive Bilateral Pulmonary Embolism in an Adolescent Female
Authors: Adeline Yi Ling Lim, John Roy, Ajay Kevat
Journal: Case Rep Pulmonol (2021)
MeSH terms: Case Reports

Pulmonary embolism (PE) is a rare presentation in the pediatric population. We report a case of submassive PE in an adolescent female following commencement of a combined oral contraceptive pill (COCP). In the setting of cardiac dysfunction, she received systemic thrombolysis with significant reduction of clot burden and clinical improvement objectively demonstrated shortly thereafter. This case highlights challenges in clinical decision-making regarding surgical or catheter-based interventions versus medical management approaches when addressing life-threatening PE in children. Our case demonstrates that submassive PE in pediatrics can be managed successfully with systemic thrombolysis and therapeutic anticoagulation.
Restoration of hand function with long-term paired associative stimulation after chronic incomplete tetraplegia: a case study
Authors: A Rodionov, S Savolainen, E Kirveskari, J P Mäkelä, A Shulga
Journal: Spinal Cord Ser Cases (2019)
Keywords: long-term potentiation, medical research, motor control, spinal cord injury, spine plasticity
MeSH terms: Electric Stimulation Therapy / methods, Quadriplegia / therapy, Recovery of Function / physiology, Spinal Cord Injuries / therapy, Transcranial Magnetic Stimulation / methods, Case Reports, Research Support, Non-U.S. Gov't, Activities of Daily Living, Evoked Potentials, Motor / physiology, Hand, Hand Strength / physiology, Humans, Male, Middle Aged, Muscle Strength / physiology, Quadriplegia / etiology, Quadriplegia / physiopathology, Spinal Cord Injuries / complications, Spinal Cord Injuries / physiopathology

Introduction:
This case study explores the gains in hand function in an individual with a chronic spinal cord injury (SCI). The intervention was long-term paired associative simulation (PAS). We aimed to provide PAS until full recovery of hand muscle strength occurred, or until improvements ceased.
Case presentation:
A 46-year-old man with traumatic C7 AIS B tetraplegia was administered PAS three times per week. After 24 weeks, PAS was combined with concomitant motor training of the remaining weak hand muscles. Outcome measures included the manual muscle test (MMT), motor-evoked potentials (MEPs), F-responses, hand functional tests, and the spinal cord independence measure (SCIM).
Discussion:
After 47 weeks of PAS the subject had improved self-care and indoor mobility and was able to perform complex motor tasks (SCIM score improved from 40 to 56). His left hand regained maximum MMT score (total 75; increase of score from baseline condition 19); the effect remained stable in the 32-week follow up. In the right-hand muscles, MMT scores of 4-5 were observed in follow up (total 71; increase from baseline 48). Improved values were also observed in other outcomes. This is the first demonstration of long-term PAS restoring muscle strength corresponding to MMT scores of 4-5 in an individual with chronic SCI. The effect persisted for several months, indicating that PAS induces stable plastic changes in the corticospinal pathway.
A case of cardiac angiosarcoma and pulmonary tuberculosis; diagnostic challenges and review of literature
Authors: Roghayeh Pourkia, Ghasem Faghanzadeh Ganji, Mohsen Vakili Sadeghi, Naghmeh Ziaie, Nahid Rezaeian, Faezeh Dehghani-Tafti, Hossein Ghorbani, Mohammad Mostafa Ansari Ramandi
Journal: Caspian J Intern Med (2021)
Keywords: heart neoplasms, magnetic resonance imaging, prognosis, tuberculosis
MeSH terms: Case Reports

Background:
Patient symptoms and primary investigational methods may be misleading at some points in patient management and can consume a lot of time. Sarcomas are rare malignancies and contribute 1% of all cancers of adult.
Case presentation:
A rare case of primary cardiac angiosarcoma is presented, who was first treated because of lung tuberculosis and then with only slight improvement in symptoms, further investigations were done showing right ventricular enlargement and pericardial effusion. Eventually, after ruling out pulmonary embolism and constrictive pericarditis, investigations lead to the diagnosis of primary cardiac angiosarcoma. The patient went under surgery to remove the tumor but he still had residual mass left, leading to chemotherapy and then radiotherapy. Although the tumor has a poor prognosis, our patient has managed to survive a year by now and is doing good for 6 months after radiotherapy.
Conclusion:
The case describes the importance of having in mind different differential diagnosis in managing patients and the role of multi-modality imaging in guiding diagnosis and treatment.
Simultaneous endovascular revascularization of external iliac artery dissection and transplant renal artery stenosis in a recent renal allograft recipient
Authors: Rajesh Vijayvergiya, Atit Gawalkar, Ganesh Kasinadhuni, Ashish Sharma, Sarbpreet Singh, Anupam Lal
Journal: J Vasc Bras (2021)
Keywords: endovascular stent, iliac artery dissection, renal artery angioplasty, renal transplantation, transplant renal artery stenosis
MeSH terms: Case Reports

Various vascular complications following renal transplantation include renal artery and vein thrombosis, renal artery stenosis, pseudoaneurysm, and iliac artery dissection. Transplant renal artery stenosis (TRAS) is the most common, while iliac artery dissection is the rarest of these various vascular complications. We describe an elderly male, who had both external iliac artery dissection and TRAS at 2 months following renal transplantation. He underwent successful percutaneous endovascular intervention of both complications. The post-intervention course was uneventful, with improvement in graft renal functions and left lower limb perfusion.
An Unusual and Rare Presentation of Pulmonary Aspergillosis: Endobronchial Aspergilloma
Authors: Mohammed Ali, Aisha Mujahid, Rahul Dadhwal, Abhay Vakil, Humayun Anjum, Salim Surani
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Aspergillosis is a wide spectrum of the disease process that is caused by the fungus Aspergillus. Endobronchial aspergilloma is a very rare type of aspergillosis which is not yet included in the classification of aspergillosis. Due to its rare nature and a limited number of cases, there are no current treatment guidelines. Here we present the case of a 57-year-old female with an endobronchial aspergilloma. The patient was started on intravenous voriconazole and subsequently discharged on oral voriconazole.
An Unusual Case of Choledochal Cyst
Authors: Manish Pathak, Rahul Saxena, T K Jayakumar, Arvind Sinha, Taruna Yadav
Journal: European J Pediatr Surg Rep (2018)
Keywords: atretic variant, choledochal cyst, cystic biliary atresia
MeSH terms: Case Reports

Choledochal cyst (CC) is an important surgical cause of jaundice in infants. Infantile variant of CC can mimic biliary atresia in clinical presentation. CC associated with biliary atresia is well described in literature. We encountered an atretic variant of CC that has not been described in literature ever. The characteristics of this unusual case, management, and proposed hypothesis to its pathogenesis are discussed here.
Diagnosis of Dilated Cardiomyopathy: Patient Reaction and Adaptation-Case Study and Review of the Literature
Authors: Solomis Solomou, Maria Stavrou, Justin Marley
Journal: Case Rep Psychiatry (2016)

Objective. Heart failure remains a major cause of morbidity and mortality. Given that heart failure generally has a chronic course, it is important to appreciate the impact it can have on the quality of life of patients and also their partners or family carers. Method. Questionnaires were given to a patient newly diagnosed with dilated cardiomyopathy, during his hospital admission, as well as after discharge. The responses are summarised and explored in the discussion section, where we used review of the literature to discuss the implications of a new diagnosis of heart failure. Results. The patient's responses to the questionnaires suggest certain anxieties that are part of his adaptation to the diagnosis of heart failure. Conclusion. Depression is a common comorbid condition in patients with heart failure. Various tools can be used to screen for depression in patients with heart failure. Both pharmacological and nonpharmacological options are available. Rapid evaluation of ongoing problems and active participation by a psychiatrist can ensure that the patient receives the best possible clinical care.
Intraoperative Pulmonary Embolism Diagnosed by Rescue Transesophageal Echocardiography in a Morbidly Obese Patient Undergoing Orthopedic Surgery following Motor Vehicle Crash
Authors: Patrick H Lam, Adam J Milam, Eric J Ley, Roya Yumul, Omar Durra
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

A case of intraoperative pulmonary embolism diagnosed by rescue transesophageal echocardiography in a morbidly obese patient undergoing orthopedic surgery following motor vehicle crash, who developed acute and persistent tachycardia, hypotension, and reduction of end-tidal CO2 during general and regional anesthesia, is described.
The tumor or inflammation? a case report on primary pulmonary choriocarcinoma
Authors: Na Wang, Nan Zhang, Xinyue Zhang, Yuanyuan Wang, Yajie Fu, Lingfei Guo, Changhu Liang, Mengru Yu
Journal: Front Oncol (2023)
Keywords: computerized tomography, differential diagnosis, primary pulmonary choriocarcinoma, treatment, β-human chorionic gonadotropin
MeSH terms: Case Reports

Choriocarcinoma is a rare malignant germ cell neoplasm with high invasiveness, the majority of which are pregnancy-related, and the female genital tract is the most prevalent site of the disease. Although early-stage choriocarcinoma typically metastasizes to the lungs, primary pulmonary choriocarcinoma is extremely rare. Primary pulmonary choriocarcinoma is difficult to diagnose, and it progresses rapidly. Combined with the difficulty of treatment, the prognosis of patients is generally poor. In this article, we retrospectively analyzed a case of female primary pulmonary choriocarcinoma, combined with a review of literature, to understand and describe the diagnostic and treatment progress of PPC.
External jugular vein hemangioma: case report
Authors: Julio Cesar Peclat de Oliveira, Fernando Tebet Ramos Barreto, Bernardo de Castro Abi Ramia Chimelli, Lucas Maia Peclat de Oliveira, Ricardo Krapp Tavares, Thaysa Fernandes Lacerda da Costa, Diogo Di Battista de Abreu E Souza, Bianca Gutfilen
Journal: J Vasc Bras (2019)
Keywords: external jugular vein, hemangioma, neck mass
MeSH terms: Case Reports

Hemangioma is a common tumor, normally diagnosed in children, and accounting for almost 10% of benign neoplasms. A hemangioma arising from the wall of a vessel is rare, and must be differentiated from other vascular malformations of the same origin. We report a rare case of a hemangioma arising from the wall of an external jugular vein and discuss diagnostic work-up and management.