OpenMed/multicare-articles huggingface dataset:
A case report: nager acrofacial dysostosis
Authors: Shahin Abdollahi Fakhim, Nikzad Shahidi, Mehrnoush Mousaviagdas
Journal: Iran J Otorhinolaryngol (2012)
Keywords: anomaly, craniofacial, nager syndrome
MeSH terms: Case Reports

Introduction:
Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child. The purpose of this report is to present a case of Nager syndrome where the patient exhibited upper limb shortening, an unusual feature that has been reported as coexisting in some individuals with Nager syndrome.
Case report:
A 3.5-year-old girl was referred to our Department of Pediatric Otorhinolaryngology due to a cleft palate. Her craniofacial anomalies included malar hypoplasia, severe mandibular hypoplasia with retrognathia, downward slanted palpebral fissures, a high narrow hard palate, absent soft palate, small retroplaced tongue, bilateral external auditory canal atresia, and dysplastic ears. There was no evidence of mental retardation. Based on the craniofacial characteristics and the coexisting upper limb preaxial anomalies, a diagnosis of Nager syndrome was confirmed.
Conclusion:
Nager syndrome is a rare disorder resulting from developmental abnormalities of the first and second branchial arches. It is linked to five other similar syndromes: Miller syndrome, Treacher-Collins, Pierre-Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein. Multidisciplinary management by a craniofacial team is needed. Early intervention, intensive education, new surgical techniques, and an emphasis on coordinated care have improved the quality of life in this patient with Nager syndrome.
Bryozoans are returning home: recolonization of freshwater ecosystems inferred from phylogenetic relationships
Authors: Nikola Koletić, Maja Novosel, Nives Rajević, Damjan Franjević
Journal: Ecol Evol (2015)
Keywords: coi, gymnolaemata, its2, phylactolaemata, rrna genes

Bryozoans are aquatic invertebrates that inhabit all types of aquatic ecosystems. They are small animals that form large colonies by asexual budding. Colonies can reach the size of several tens of centimeters, while individual units within a colony are the size of a few millimeters. Each individual within a colony works as a separate zooid and is genetically identical to each other individual within the same colony. Most freshwater species of bryozoans belong to the Phylactolaemata class, while several species that tolerate brackish water belong to the Gymnolaemata class. Tissue samples for this study were collected in the rivers of Adriatic and Danube basin and in the wetland areas in the continental part of Croatia (Europe). Freshwater and brackish taxons of bryozoans were genetically analyzed for the purpose of creating phylogenetic relationships between freshwater and brackish taxons of the Phylactolaemata and Gymnolaemata classes and determining the role of brackish species in colonizing freshwater and marine ecosystems. Phylogenetic relationships inferred on the genes for 18S rRNA, 28S rRNA, COI, and ITS2 region confirmed Phylactolaemata bryozoans as radix bryozoan group. Phylogenetic analysis proved Phylactolaemata bryozoan's close relations with taxons from Phoronida phylum as well as the separation of the Lophopodidae family from other families within the Plumatellida genus. Comparative analysis of existing knowledge about the phylogeny of bryozoans and the expansion of known evolutionary hypotheses is proposed with the model of settlement of marine and freshwater ecosystems by the bryozoans group during their evolutionary past. In this case study, brackish bryozoan taxons represent a link for this ecological phylogenetic hypothesis. Comparison of brackish bryozoan species Lophopus crystallinus and Conopeum seurati confirmed a dual colonization of freshwater ecosystems throughout evolution of this group of animals.
Giant ectopic ureter mimicking pelvic organ prolapse: a case report
Authors: Adnan Simsir, Fuat Kizilay, Bilbasar Yildiz, Oktay Nazli
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Ectopic ureter is one of the most common urinary tract anomalies. We, herein, present a case of a giant ureter with ectopic orifice, mimicking pelvic organ prolapse, which is the first in the literature. A 59-year-old female patient presenting with frequently recurrent urinary tract infection had grade 3 pelvic organ prolapse. On examination, the organ producing the appearance of prolapse was found to be a right ureter of giant size and was obstructed by a large stone at the distal segment. The proximal end of the ureter ended blindly. After exploration, the stone was removed, the ureter was detached from the urethra, and the lumen was tied off and cut 5 cm proximally. At 6 months postoperatively, the patient is being followed up without any clinical problems. In such cases with nonfunctioning renal segment draining proximally, the chance of cure can be obtained without a need for a comprehensive intervention such as total abdominal ureterectomy.
Angiosarcoma of an Arteriovenous Fistula for Hemodialysis in a Kidney Transplant Recipient Affected by Lowe's Syndrome
Authors: V D'Ambrosio, P Silvestri, F Aureli, A Sturniolo, G Grandaliano, P M Ferraro
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Objective/Background. To describe an uncommon, life-threatening condition such as angiosarcoma of a fistula for hemodialysis occurring in a transplant recipient affected by Lowe's syndrome. Summary. We present the case of a 56-year-old male kidney transplant recipient affected by Lowe's syndrome, also known as oculocerebrorenal syndrome, a rare X-linked disorder characterized by congenital cataracts, hypotonia, intellectual disability, and Fanconi-like renal tubular dysfunction, who was diagnosed with angiosarcoma of a functioning arteriovenous fistula for hemodialysis. Conclusion. Angiosarcoma is a rare soft tissue tumor, and only 22 cases of angiosarcoma of arteriovenous fistulae were described so far; although a correlation between Lowe's syndrome and a higher risk of tumor compared to the general population has not been described so far, the mechanisms of disease causation could be an interesting starting point for future studies on a possible connection between the two events.
Histopathologic features of Mycobacterium ulcerans infection
Authors: Jeannette Guarner, Jeanine Bartlett, Ellen A Spotts Whitney, Pratima L Raghunathan, Ymkje Stienstra, Kwame Asamoa, Samuel Etuaful, Erasmus Klutse, Eric Quarshie, Tjip S van der Werf, Winette T A van der Graaf, C Harold King, David A Ashford
Journal: Emerg Infect Dis (2003)
MeSH terms: Mycobacterium Infections, Nontuberculous / pathology, Mycobacterium ulcerans / isolation & purification, Skin Diseases, Bacterial / pathology, Skin Ulcer / pathology, Case Reports, Comparative Study, DNA, Bacterial / analysis, Diagnosis, Differential, Humans, Mycobacterium Infections, Nontuberculous / diagnosis, Mycobacterium Infections, Nontuberculous / surgery, Necrosis, Polymerase Chain Reaction / methods, Skin / pathology, Skin Diseases, Bacterial / diagnosis, Skin Diseases, Bacterial / surgery, Skin Ulcer / diagnosis, Skin Ulcer / microbiology, Staining and Labeling, DNA, Bacterial

Because of the emergence of Buruli ulcer disease, the World Health Organization launched a Global Buruli Ulcer Initiative in 1998. This indolent skin infection is caused by Mycobacterium ulcerans. During a study of risk factors for the disease in Ghana, adequate excisional skin-biopsy specimens were obtained from 124 clinically suspicious lesions. Buruli ulcer disease was diagnosed in 78 lesions since acid-fast bacilli (AFB) were found by histopathologic examination. Lesions with other diagnoses included filariasis (3 cases), zygomycosis (2 cases), ulcerative squamous cell carcinomas (2 cases), keratin cyst (1 case), and lymph node (1 case). Thirty-seven specimens that did not show AFB were considered suspected Buruli ulcer disease cases. Necrosis of subcutaneous tissues and dermal collagen were found more frequently in AFB-positive specimens compared with specimens from suspected case-patients (p<0.001). Defining histologic criteria for a diagnosis of Buruli ulcer disease is of clinical and public health importance since it would allow earlier treatment, leading to less deforming sequelae.
Acute myocardial infarction in a 41-year-old woman due to elevated factor VIII: a case report
Authors: Falmata Laouan Brem, Hammam Rasras, Noha El Ouafi, Zakaria Bazid
Journal: Pan Afr Med J (2021)
Keywords: acute myocardial infarction, case report, coagulation factor viii, coronary artery thrombosis, thrombophilia
MeSH terms: Coronary Angiography, Factor VIII / metabolism, Percutaneous Coronary Intervention / methods, ST Elevation Myocardial Infarction / diagnosis, Case Reports, Acenocoumarol / administration & dosage, Adult, Anticoagulants / administration & dosage, Female, Humans, Platelet Aggregation Inhibitors / administration & dosage, Platelet Glycoprotein GPIIb-IIIa Complex / antagonists & inhibitors, ST Elevation Myocardial Infarction / blood, ST Elevation Myocardial Infarction / therapy, Stents, Thrombosis / diagnostic imaging, Anticoagulants, Platelet Aggregation Inhibitors, Platelet Glycoprotein GPIIb-IIIa Complex, F8 protein, human, Factor VIII, Acenocoumarol

Myocardial infarction is a life-threatening emergency with a high mortality rate. A high plasma level of factor VIII is an established risk for both arterial and venous thrombotic events. In this mini-review, we report the case of a 41-year-old woman without cardiovascular risk factors or a previous history of thrombotic events, admitted for ST-elevation myocardial infarction, in whom coronary angiography showed a thrombotic occlusion in the left anterior descending artery. The patient underwent primary percutaneous coronary intervention (PCI), with GPIIB-IIIA antagonist, then, a pre-dilation with a semi-compliant balloon-catheter, followed by implantation of 2 stents. The etiological assessment revealed a high level of coagulation factor VIII (FVIII). She underwent anticoagulation therapy (with acenocoumarol) with well-controlled international normalised ratio (INR).
Longitudinal Case Study of Regression-Based Hand Prosthesis Control in Daily Life
Authors: Janne M Hahne, Meike A Wilke, Mario Koppe, Dario Farina, Arndt F Schilling
Journal: Front Neurosci (2020)
Keywords: myolectric control, clinical evaluation, prosthesis, regression, simultaneous control

Hand prostheses are usually controlled by electromyographic (EMG) signals from the remnant muscles of the residual limb. Most prostheses used today are controlled with very simple techniques using only two EMG electrodes that allow to control a single prosthetic function at a time only. Recently, modern prosthesis controllers based on EMG classification, have become clinically available, which allow to directly access more functions, but still in a sequential manner only. We have recently shown in laboratory tests that a regression-based mapping from EMG signals into prosthetic control commands allows for a simultaneous activation of two functions and an independent control of their velocities with high reliability. Here we aimed to study how such regression-based control performs in daily life in a two-month case study. The performance is evaluated in functional tests and with a questionnaire at the beginning and the end of this phase and compared with the participant's own prosthesis, controlled with a classical approach. Already 1 day after training of the regression model, the participant with transradial amputation outperformed the performance achieved with his own Michelangelo hand in two out of three functional metrics. No retraining of the model was required during the entire study duration. During the use of the system at home, the performance improved further and outperformed the conventional control in all three metrics. This study demonstrates that the high fidelity of linear regression-based prosthesis control is not restricted to a laboratory environment, but can be transferred to daily use.
A Curious Case of MRSA Bacteremia and Septic Pulmonary Embolism Secondary to Peripheral Venous Catheter
Authors: Joshua Twito, Syeda Sahra, Abdullah Jahangir, Neville Mobarakai
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Background:
Central venous catheters (CVCs) have been frequently associated with septic thrombophlebitis, bacteremia, and septic emboli. Right-sided infective endocarditis is seen concurrently in patients with septic pulmonary emboli. A case of methicillin-resistant Staphylococcus aureus (MRSA) bacteremia and septic pulmonary emboli secondary to infected peripheral venous catheter (PVC) is reported. Transesophageal echocardiogram (TEE) showed no evidence of infective endocarditis. Case Presentation. A 44-year-old female presented to E.R. with left upper extremity pain and swelling at the previously inserted peripheral 18-gauge intravenous catheter site. She also had chest pain, which worsened with inspiration. The patient was found to be in septic shock. Her clinical condition deteriorated acutely. Right upper extremity deep venous thrombosis (DVT) and pulmonary emboli were seen on imaging. Blood cultures grew MRSA. Transthoracic and transesophageal echocardiograms showed no vegetations. The patient responded well to appropriate antibiotics and anticoagulation.
Conclusion:
Peripherally inserted catheters are an important portal for pathogen entry and need periodic site assessment and frequent evaluation of their need for insertion. Septic pulmonary emboli can also be seen without any evidence of right-sided infective endocarditis.
Intrathecal analgesia and palliative care: a case study
Authors: Naveen S Salins, Gregory B Crawford
Journal: Indian J Palliat Care (2010)
Keywords: early complications, intrathecal analgesia, quality of life
MeSH terms: Case Reports

Intrathecal analgesia is an interventional form of pain relief with definite advantages and multiple complications. Administration of intrathecal analgesia needs a good resource setting and expertise. Early complications of intrathecal analgesia can be very distressing and managing these complications will need a high degree of knowledge, technical expertise and level of experience. Pain control alone cannot be the marker of quality in palliative care. A holistic approach may need to be employed that is more person and family oriented.
Childhood Nephrotic Syndrome Complicated by Catastrophic Multiple Arterial Thrombosis Requiring Bilateral Above-Knee Amputation
Authors: Hayato Togashi, Yuko Shimosato, Ken Saida, Noriko Miyake, Takeshi Nakamura, Shuichi Ito
Journal: Front Pediatr (2020)
Keywords: pros1 gene, amputation, arterial thrombosis, nephrotic syndrome, protein s
MeSH terms: Case Reports

Background: Thromboembolic events are rare but critical complications in childhood nephrotic syndrome. The veins are more commonly affected, while arterial thrombosis is extremely rare but often life-threatening. Herein, we describe the clinical course of a 10-years-old girl with catastrophic multiple arterial thrombosis at the primary onset of nephrotic syndrome who underwent bilateral above-knee amputation. Case diagnosis/treatment: A previous healthy 10-years-old girl contracted the influenza B virus. Five days later, she suddenly developed severe ischemia in both legs. Physical examination showed eyelid and leg edema, and laboratory tests revealed hypoalbuminemia and acute kidney injury. After undergoing contrast-enhanced computed tomography, the patient was diagnosed with multiple arterial thrombosis (including the bilateral iliac arteries) due to nephrotic syndrome. Despite the performance of surgical thrombectomies, fasciotomy, and systematic heparinization, she required bilateral above-knee amputation. The patient achieved spontaneous remission of nephrotic syndrome, and her renal function fully recovered. There were no findings suggestive of secondary nephrotic syndrome and antiphospholipid syndrome. Her protein C and protein S concentrations were slightly decreased at admission. However, whole-exome sequencing revealed a thrombotic risk variant (T630I) in the PROS1 gene encoding protein S. This missense variant is often reported in patients with thrombosis or protein S deficiency, and may result in a thrombotic predisposition in some situations, such as nephrotic syndrome. Conclusions: Arterial thrombosis is a rare complication; however, it must be considered, especially in patients with new-onset nephrotic syndrome. Early recognition is important for early intervention and prevention of serious sequelae.
Case report: Clinical report of co-occurrence of pituitary adenoma and meningioma in the sellar region after meningioma treatment
Authors: Wang Lu, Yang Shengkai, Wang Yu, Li Aimin, Yan Shiwei, Xie Kang
Journal: Front Neurol (2022)
Keywords: mri, meningioma, pituitary adenoma, sellar region, vision
MeSH terms: Case Reports

The coexistence of meningioma and pituitary adenoma is very rare, especially in the same location after meningioma surgery. Here, we reported a case of coexisting meningioma and pituitary adenoma secondary to postoperative meningioma in the sellar region in a patient who had not received radiation therapy before the second surgery. A 61-year-old woman underwent craniotomy for tumor resection for sellar meningioma in 2017, and postoperative imaging showed no residual in the surgical area. In 2022, the patient had a history of decreased vision again. MRI showed the possibility of postoperative pituitary adenoma in the sellar region. The patient underwent endoscopic resection of the skull base lesion again. After surgery, the patient's visual symptoms improved. Histology of the sellar tumor showed both meningioma (meningeal epithelial type and WHO grade I) and pituitary adenoma in the same section. The coexistence of meningioma and pituitary adenoma is a very rare surgical entity. This report provides a theoretical basis for the selection of intracerebral tumor surgery and provides a diagnostic basis and treatment reference for patients diagnosed with meningioma and pituitary adenoma at the same time.
Seizure as Presenting Symptom of Multisystem Inflammatory Syndrome in Children
Authors: Eleonora S D'Ambrosio, Stefanie Gauguet, Christine Miller, Erin McMahon, Christopher Driscoll, Mugdha Mohanty, Thomas Guggina
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

We describe the case of a 13-year-old girl who presented with a new-onset seizure and fever and subsequently developed severe cardiac dysfunction, coronary artery dilation, and shock due to the surprising diagnosis of multisystem inflammatory syndrome in children (MIS-C). Although the clinical entity we now call MIS-C was first mentioned in the medical literature in April 2020, the full picture of this disease process is still evolving. Neurologic involvement has been described in cases with MIS-C; however, seizures are not a typical presenting symptom. Additionally, because children infected with SARS-CoV-2 are often asymptomatic, a documented preceding COVID-19 infection might not be available to raise suspicion of MIS-C early on. Febrile seizures, meningitis, and encephalitis are childhood illnesses that pediatricians are generally familiar with, but associating these clinical pictures with MIS-C is uncommon. Given the possibility of rapid clinical cardiogenic decline, as seen in our patient, a prompt diagnosis and appropriate monitoring and treatment are of utmost importance. This case report aims to raise awareness that new-onset seizures with fevers can be early or the first presenting symptoms in children with MIS-C, and further workup and close monitoring may be required.
Idiopathic Chylopericardium in a Young Adult: Diagnosis and Management
Authors: João Pedro E Sant'Ana, Amanda O Vicente, Amanda S Pereira, Pedro V Bertozzi, Rodrigo A S Sardenberg
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Primary idiopathic chylopericardium (PIC) is an uncommon cardiologic disorder; it is defined as accumulation of lymph in the pericardial sac without any know precipitating factor. A 25-year-old presented with dyspnea and chest pain for over two months. The patient underwent a chest X-ray, which revealed an enlargement of cardiac silhouette and signs of cardiac tamponade. Chest CT was performed, revealing large pericardial effusion and small pleural effusion on the right hemithorax. The patient was referred to the ICU and underwent a pericardial window through VATS, which revealed 500 ml of a milky fluid.
NGS Analysis of Clonality and Minimal Residual Disease in a Patient with Concurrent Richter's Transformation and CLL/SLL
Authors: Shrihari S Kadkol, Joshua Bland, Ashley Kavanaugh, Hongyu Ni, Vijeyaluxmi Nehru, David Peace
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

B-cell lymphomas are neoplastic proliferations of clonal B lymphocytes. Clonality is generally determined by PCR amplification of VDJ rearrangements in the IgH heavy chain or VJ rearrangements in Igκ/Igλ light chain genes followed by capillary electrophoresis. More recently, next-generation sequencing (NGS) has been used to detect clonality in B-cell lymphomas because of the exponential amount of information that is obtained beyond just detecting a clonal population. The additional information obtained is useful for diagnostic confirmation, prognosis assessment, and response to therapy. In this study, we utilized NGS analysis to characterize two histologically distinct lymphomas (DLBCL and CLL/SLL) that were detected contemporaneously in an asymptomatic patient. NGS analysis showed that the same VDJ rearrangement was present in nodal (DLBCL) and marrow (CLL/SLL) biopsies confirming that the DLBCL resulted from Richter's transformation of a subclinical CLL/SLL. The V region of the rearrangement remained unmutated without somatic hypermutation. In silico analysis showed that the HCDR3 sequence was heterogeneous and not stereotypic. Minimal residual disease analysis by NGS showed that the tumor clone decreased by 2.84 logs in the bone marrow after R-CHOP therapy. However, a small number of tumor cells were still detected in the peripheral blood after R-CHOP therapy. Subsequent allogeneic transplantation was successful in eradicating the tumor clone and achieving deep molecular remission. We show that NGS analysis facilitated clinical management in our patient by helping to characterize the VDJ rearrangement in detail and by tracking minimal residual disease with high sensitivity and specificity.