OpenMed/multicare-articles huggingface dataset:
Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor
Authors: Ilda P Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J Julião, Joana B Melo, Isabel M Carreira
Journal: Mol Cytogenet (2017)
Keywords: chemoradioresistance, genetic and epigenetic profile, oral cancer, recurrence, second primary tumor
MeSH terms: Case Reports

Background:
The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, and the overall survival is lower when compared with patients with a single or first tumor. Identifying biomarkers that predict the risk of relapse and the response to treatment is an emerging clinical issue.
Case presentation:
A Caucasian 49-years-old man was treated with chemotherapy followed by chemoradiotherapy for a primary left side tongue tumor, achieving a complete response. After 49-months of follow-up, a local recurrence was diagnosed. After 3 months, a second primary tumor at the pharyngoesophageal region was detected. Genomic and epigenetic characterization of these three tumors was performed using array Comparative Genomic Hybridization, Multiplex Ligation-dependent Probe Amplification (MLPA) and Methylation Specific MLPA.
Results:
The three tumors of this patient shared several imbalances in all chromosomes excluding chromosomes 9, 20 and 22, where genes related to important functional mechanisms of tumorigenesis are mapped. The shared genomic imbalances, such as losses at 1p, 2p, 3p, 4q, 5q, 6q, 7q, 8p, 10p, 11q, 12p, 12q, 13q, 15q, 16p, 16q, 17p, 17q, 18q, 19p, 19q, 21q and Xp and gains at 3q, 7q, 14q and 15q showed a common clonal origin for the diagnosed relapses. We identified some chromosomal imbalances and genes mapped in the chromosomes 2, 3, 4, 6, 7, 11, 14, 17, 18 and 22 as putative linked to chemoradioresistance and chemoradiosensitivity. We also observed that gains in short arm of chromosomes 6, 7, 8 and 18 were acquired after treatment of the primary tumor. We identified losses of VHL gene and promoter methylation of WT1 and GATA5 genes, as predictors of relapses.
Conclusions:
A common clonal origin for the diagnosed relapses was observed and we identified some putative candidate biomarkers of prognosis, relapse risk and treatment response that could guide the development of management strategies for these patients.
Long-term clinical performance of aesthetic restorations in primary molars: a case report
Authors: Luciana Pomarico, Beatriz Gonçalves Neves, Lucianne Cople Maia, Laura Guimarães Primo
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

There is a great diversity of restorative materials and techniques for deciduous molars with significant coronal destruction, including resin composite restorations and biologic restorations (portions of natural teeth). By using 4 evaluation methods, this study aimed at longitudinally evaluating the effectiveness of restorations in the deciduous molars of a patient having high caries activity, using adhesive techniques. The evaluation methods consisted of the fibre-optic transillumination method, clinical evaluation based on the United States Public Health Service criteria, radiographs, and an indirect method, scanning electron microscopy. Despite the patient's poor biofilm control, the restorative techniques were shown to be efficacious, particularly the biologic restorative technique.
Antiglomerular Basement Membrane Disease in a Pediatric Patient: A Case Report and Review of the Literature
Authors: Vimal Master Sankar Raj, Diana Warnecke, Julia Roberts, Sarah Elhadi
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Goodpasture's syndrome (GPS) remains a very rare disease entity in the pediatric population characterized by the presence of pulmonary hemorrhage and rapidly evolving glomerulonephritis. We hereby describe the case of a 2-year-old girl who presented with renal failure and was diagnosed with GPS. A brief review of the literature in regard to data on demographics, pathogenesis, clinical features, diagnosis, treatment, and prognosis for renal recovery is also provided.
Cutaneous polyarteritis nodosa in childhood: a case report and review of the literature
Authors: Nina-Karen Bansal, Kristin Michelle Houghton
Journal: Arthritis (2010)

Polyarteritis nodosa is a rare vasculitis of childhood. Cutaneous PAN (cPAN) is limited to the skin, muscles, joints, and peripheral nerves. We describe a 7.5-year-old girl with cPAN presenting initially as massive cervical edema who later went on to develop subcutaneous nodules, livedo reticularis, myositis, arthritis, and mononeuritis multiplex. The use of corticosteroids resulted in initial clinical improvement, but symptom recurrence necessitated disease modifying antirheumatic drugs and biologic therapy. We review a further 119 reports of biopsy proven cPAN in the literature. A majority of patients (96.6%) had cutaneous involvement; musculoskeletal involvement was common and included both articular (58.0%) and muscular (42.9%) symptoms, and nervous system involvement was least common (18.5%). Corticosteroids were used in the majority of patients (85.7%), followed by use of disease modifying antirheumatic drugs (33.0%), nonsteroidal anti-inflammatory drugs (10.7%), and intravenous immunoglobulin (9.8%). Therapy of cPAN with biologics has only been reported in 2 patients, and we report the first patient treated with Rituximab. A diagnosis of cPAN should be considered in a child with fever, vasculitic rash, and musculoskeletal symptoms. Most children respond to corticosteroids and have a benign course, but some require disease modifying antirheumatic drugs and biologic therapies.
Giant prostatic calculi
Authors: Mohammed Najoui, Abdelmounaim Qarro, Abdelghani Ammani, Mohammed Alami
Journal: Pan Afr Med J (2013)
Keywords: prostatic calculi, endogenous, exogenous
MeSH terms: Calculi / surgery, Prostatic Diseases / surgery, Case Reports, Adult, Calcium Phosphates / analysis, Calculi / complications, Calculi / therapy, Hematuria / etiology, Humans, Male, Prostatic Diseases / complications, Prostatic Diseases / therapy, Urethral Obstruction / etiology, Urinary Bladder / surgery, Urinary Retention / etiology, Calcium Phosphates

Prostatic parenchymal calculi are common, usually incidental, findings on morphological examinations. They are typically asymptomatic and may be present in association with normal glands, benign prostatic hyperplasia, and prostate cancer. However giant prostatic calculi are rare. Less than 20 cases have been reported in the literature. We present the case of a 35-year-old man with two giant prostatic calculi that replaced the entire gland. He underwent an open cystolithotomy, two giant stones were removed from the prostate, and we used a lithotripsy in situ for extraction of stone fragments.
Case report on a defective antibody response against pneumococcal serotype 9V in a patient with a single episode of pneumonia
Authors: Diana van Kessel, Thijs Hoffman, Heleen van Velzen-Blad, Bob Meek, Suzan van Mens, Jan Grutters, Ger Rijkers
Journal: Pneumonia (Nathan) (2017)
Keywords: antibody deficiency, community-acquired pneumonia, polysaccharide vaccine, streptococcus pneumoniae, vaccination
MeSH terms: Case Reports

Background:
Patients with recurrent respiratory tract infections and an impaired response to pneumococcal polysaccharide vaccination are diagnosed with a specific antibody deficiency. In adult patients with pneumococcal pneumonia an impaired antibody response to the infecting pneumococcal serotype can sometimes be found. It is unknown whether these patients are unable to produce an adequate anti-polysaccharide antibody response to pneumococcal vaccination after recovery.
Case presentation:
The authors describe a case of invasive pneumonia caused by Streptococcus pneumoniae serotype 9V in a previously healthy 35-year-old female. This patient did not produce serotype-specific antibodies against the infecting serotype during disease. After pneumococcal polysaccharide vaccination 3 months after recovery, she responded adequately to most other pneumococcal serotypes, but still had no response to the infecting serotype 9V. However, after 9 years (and prior to pneumococcal-conjugate vaccination) normal antibody levels against 9V were found. These antibody levels further increased after pneumococcal-conjugate vaccination.
Conclusion:
The authors believe that this case is the first description of a temporary deficient response to the infecting pneumococcal serotype in adults, while other reports with similar observations all involved children.
Ischemic Stroke in an HIV Positive Patient: An Initial Presentation of Neurosyphilis
Authors: Kalimullah Jan, Rebecca Hoe Hui Min, Tan Seow Yen, Shekhawat Ravindra Singh
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Ischemic stroke occurring in patients with human immunodeficiency virus (HIV) needs to be approached with a vast differential diagnosis in mind. We report a case of middle-aged male patient with immune reconstituted HIV on therapy without known cardiovascular risk factors who had a right middle cerebral artery territory infarct. After a thorough evaluation, he received a final diagnosis of neurosyphilis-associated vasculitis leading to stroke. He recovered without any neurological deficits following treatment with intravenous benzylpenicillin. Neurosyphilis is an easily diagnosed and treatable cause of a stroke that can be an initial presentation of neurosyphilis but requires a high index of suspicion.
Fatal autoimmune pneumonitis requiring bilobectomy and omental flap repair in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Authors: Stephanie A Kubala, Huy M Do, Elise M N Ferré, David S Schrump, Kenneth N Olivier, Jeffrey G Walls, Michail S Lionakis, Les R Folio
Journal: Respir Med Case Rep (2021)
Keywords: aire, apeced, aps-1, autoimmune pneumonitis, bronchiectasis, bronchopleural fistula, immunomodulation, omental flap repair
MeSH terms: Case Reports

We present a severe case of progressive autoimmune pneumonitis requiring surgical intervention in a patient with the monogenic syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). APECED is caused by loss-of-function mutations in the autoimmune regulator (AIRE) gene, which lead to impaired central immune tolerance and autoimmune organ destruction including pneumonitis, an underrecognized, life-threatening complication. When clinicians evaluate patients with pneumonitis, recurrent mucosal candidiasis, and autoimmunity, APECED should be considered in the differential. Additionally, in patients with established APECED, a chest computed tomography is preferred to identify pneumonitis early on and to promptly initiate lymphocyte-directed immunomodulatory treatment, which can prevent irreversible lung destruction.
First Detection of Human Coronavirus HKU1 in Greece, in an Immunocompromised Patient With Severe Lower Respiratory Tract Infection
Authors: Vasiliki Epameinondas Georgakopoulou, Georgios Petsinis, Konstantinos Mantzouranis, Christos Damaskos, Despoina Melemeni, Aikaterini Gkoufa, Serafeim Chlapoutakis, Nikolaos Garmpis, Pagona Sklapani, Nikolaos Trakas, Xanthi Tsiafaki
Journal: Acta Med Litu (2021)
Keywords: hcov-hku1, human coronaviruses, immunosuppression, pneumonia
MeSH terms: Case Reports

Human coronavirus HKU1 (HCoV-HKU1) is a RNA virus which gets in the human cells by binding to the receptor of N-acetyl-9-O-acetylneuraminic acid. Human Coronaviruses (HCoVs), including HCoV-HKU1, are globally found. HCoV-HKU1 is responsible for upper and lower respiratory tract infections, usually with mild symptoms. In severe cases, HCoV-HKU1 can cause life-threatening respiratory illness especially in vulnerable hosts such as elderly, children and immunocompromised patients. In Greece, Respiratory Syncytial Virus (RSV) and influenza are the most common viruses causing respiratory tract infections. Traditionally, HCoVs are responsible for less than 3% of respiratory infections in Greek population. HCoVs 229E and OC43 have been shown to circulate in Greece. We report the first case of lung infection in an immunocompromised woman due to HCoV-HKU1, that has never been before detected in Greece. HCoV-HKU1 is related to severe disease even in healthy individuals and must be considered in the differential diagnosis of severe respiratory infections.
Pulmonary Adenocarcinoma Presenting as Paraspinal Muscle Metastatic Mass
Authors: Matthew Harrison, Amanda Jones, Abebe Abebe
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

A 39-year-old male presented with a painful paraspinal mass, which had been present for several weeks. The mass had previously been treated with oral sulfamethoxazole and trimethoprim DS, as the patient reported a history of "boils," with no improvement in his pain or size of the mass. No further diagnostic workup was pursued until he was admitted with intractable pain. Eventual biopsy revealed adenocarcinoma, likely of pulmonary origin. This report, as well as other incoming cases, highlights this rare phenomenon of muscular metastases as the sole presentation of a distant primary malignancy.
Apicoectomy of Perforated Root Canal Using Bioceramic Cement and Photodynamic Therapy
Authors: Amjad Abu Hasna, Daiane Pereira Santos, Tania Regina Gavlik de Oliveira, Alana Barbosa Alves Pinto, César Rogerio Pucci, José Luiz Lage-Marques
Journal: Int J Dent (2020)
MeSH terms: Case Reports

Root perforation is a common endodontic accident. Its management depends mainly on root canal disinfection and sealing the perforation area by preventing any communication with the periodontium to prevent recontamination. A patient was referred to treat root perforation due to a previous treatment of tooth #22. The diagnosis was symptomatic periapical periodontitis, and the treatment plan was to retreat the root canal of #22 and make a surgical intervention (apicoectomy) associated with antimicrobial photodynamic therapy as a complementary technique. Five mineral oxides (5MO) cement was used as a root-end filling material. The procedures were performed in two sessions and controlled in two visits (after 30 days and 12 months). A bone neoformation was observed at the periapical area of tooth #22. 5MO bioceramic cement was effective in inducing the repair of the periapical lesion and had the ability to seal the exposed periapical area of the tooth. Its success depended mainly on root canal and surgical site disinfection.
Cortical Re-organization After Traumatic Brain Injury Elicited Using Functional Electrical Stimulation Therapy: A Case Report
Authors: Matija Milosevic, Tomoya Nakanishi, Atsushi Sasaki, Akiko Yamaguchi, Taishin Nomura, Milos R Popovic, Kimitaka Nakazawa
Journal: Front Neurosci (2021)
Keywords: brain injury, functional electrical stimulation, functional electrical stimulation therapy, neuroplasticity, rehabilitation

Functional electrical stimulation therapy (FEST) can improve motor function after neurological injuries. However, little is known about cortical changes after FEST and weather it can improve motor function after traumatic brain injury (TBI). Our study examined cortical changes and motor improvements in one male participant with chronic TBI suffering from mild motor impairment affecting the right upper-limb during 3-months of FEST and during 3-months follow-up. In total, 36 sessions of FEST were applied to enable upper-limb grasping and reaching movements. Short-term assessments carried out using transcranial magnetic stimulation (TMS) showed reduced cortical silent period (CSP), indicating cortical and/or subcortical inhibition after each intervention. At the same time, no changes in motor evoked potentials (MEPs) were observed. Long-term assessments showed increased MEP corticospinal excitability after 12-weeks of FEST, which seemed to remain during both follow-ups, while no changes in CSP were observed. Similarly, long-term assessments using TMS mapping showed larger hand MEP area in the primary motor cortex (M1) after 12-weeks of FEST as well as during both follow-ups. Corroborating TMS results, functional magnetic resonance imaging (fMRI) data showed M1 activations increased during hand grip and finger pinch tasks after 12-weeks of FEST, while gradual reduction of activity compared to after the intervention was seen during follow-ups. Widespread changes were seen not only in the M1, but also sensory, parietal rostroventral, supplementary motor, and premotor areas in both contralateral and ipsilateral hemispheres, especially during the finger pinch task. Drawing test performance showed improvements after the intervention and during follow-ups. Our findings suggest that task-specific and repetitive FEST can effectively increase cortical activations by integrating voluntary motor commands and sensorimotor network through functional electrical stimulation (FES). Overall, our results demonstrated cortical re-organization in an individual with chronic TBI after FEST.
Syncope as the Initial Manifestation of Advanced Nasopharyngeal Carcinoma: A Case Report
Authors: Si-Cheng Zhang, Mao-Qing Lin, Li-Wei Zhang, Xue-Qin Lin, Man-Qing Luo, Kai-Yang Lin, Yan-Song Guo
Journal: Front Cardiovasc Med (2022)
Keywords: carotid sinus syndrome, case report, diagnosis, nasopharyngeal carcinoma, syncope
MeSH terms: Case Reports

Carotid sinus syndrome is a principal cause of syncope in the elderly. Syncope, associated with carotid sinus syndrome which is secondary to metastasis of advanced nasopharyngeal carcinoma, rarely occurs. The current study reported a 66-year-old woman, who presented with a history of frequent and recurrent syncope as the initial symptom, and was eventually diagnosed with advanced nasopharyngeal carcinoma. The positron emission tomography scan demonstrated a diagnosis of advanced nasopharyngeal carcinoma with involvement in carotid sheath space, and nasopharyngeal biopsy revealed non-keratinized nasopharyngeal carcinoma. After diagnosis and treatment, the patient had no recurrence of syncope. In summary, our case study suggests that great importance should be attached to potential intrinsic causes of syncope especially in the case of nasopharyngeal carcinoma, as it is an insidious malignancy which needs to be precisely identified.
Grisel's syndrome: a rare complication following traditional uvulectomy
Authors: Abdelhakim Elyajouri, Abdellah Assermouh, Rachid Abilkacem, Aomar Agadr, Chafiq Mahraoui
Journal: Pan Afr Med J (2015)
Keywords: grisel′s syndrome, torticollis, uvulectomy
MeSH terms: Postoperative Complications / diagnosis, Torticollis / etiology, Uvula / surgery, Case Reports, Atlanto-Axial Joint / pathology, Female, Humans, Infant, Neck / pathology, Neck Injuries / etiology, Syndrome, Torticollis / diagnosis

A case is reported of an eight-month-old female patient who had traditional uvulectomy for sore throat complicated by Grisel's syndrome. She was admitted into the hospital one week after uvulectomy with Torticolis. Grisel's syndrome is a nontraumatic atlantoaxial subluxation, usually secondary of an infection or an inflammation at the head and neck area, or after surgery in the same area. Patients typically suffer from painful torticollis. Diagnosis of Grisel's syndrome is largely based on suspicion of the patient who has recently undergone surgery or has a history of an infection in head and neck area. Physical examination and imaging techniques assist in diagnosis. Thus, clinicians should be aware of acute nontraumatic torticollis if patient had a recent surgery in the head or neck area or undergone an upper respiratory tract infection. In this paper, a case of an eight-month-old female patient who had Grisel's syndrome after uvulectomy is discussed. This case is reported to highlight this neurogical threatening complication following traditional uvulectomy as well as highlighting the unnecessary morbidity and mortality associated with this persisting mode of treatment in Africa.
Abducens Nerve Paralysis Induced by a Primary Solitary Sphenoid Sinus Mucocele with Broad Osseous Thinning at the Cranial Base
Authors: Shoji Naito, Hidenori Yokoi, Yuma Matsumoto, Michitsugu Kawada, Kohei Inomata, Masachika Fujiwara, Arisa Ohara, Koichiro Saito
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Primary solitary sphenoid sinus mucocele is rare, generally presenting with headaches or eye symptoms at the anatomical site. We report the case of a 39-year-old woman incidentally diagnosed with sphenoid sinus mucocele during a complete medical checkup. Imaging revealed that the cystic wall had developed from the rear sphenoid sinus and had spread expansively to diminish the clivus; however, no symptoms were reported, and the patient was managed with close observation. During the follow-up period, diplopia developed suddenly due to isolated left-sided abducens nerve paralysis. An endoscopic endonasal approach was used to open the frontal cystic wall, and fascia lata and fat were used for cranial base reinforcement to avoid future cerebrospinal fluid leakage, resulting in improvement during the early stages of follow-up. Treatment options for sphenoid sinus mucoceles include close observation or surgery. In our case, we chose surgery because of an acute symptomatic manifestation during observation.
Retroperitoneal alveolar rhabdomyosarcoma intruding into spinal canal: A case report and literature review
Authors: Yongbai Zhang, Wenpeng Huang, Liming Li, Yongkang Qiu, Hao Jiao, Zhao Chen, Qi Yang, Lele Song, Lei Kang
Journal: Front Med (Lausanne) (2022)
Keywords: 18f-fdg, pet/ct, alveolar rhabdomyosarcoma, case report, retroperitoneum, spinal canal intrusion
MeSH terms: Case Reports

Background:
Rhabdomyosarcoma (RMS) is the most frequent soft sarcoma in children and adolescents. Alveolar rhabdomyosarcoma (ARMS) is a relatively rare subtype that is characterized by aggressive behavior and an unsatisfactory prognosis. An ARMS can arise anywhere but most commonly occurs at extremity sites with a very small fraction in the retroperitoneum. The utility of 2-Deoxy-2-[fluorine-18]-fluoro-D-glucose (18F-FDG) positron emission tomography combined with computed tomography (PET/CT) remains to be established in ARMS.
Case report:
A 3-year-old female child was accidentally found with a large left upper abdominal mass for a day. CT examination indicated a huge soft tissue mass in the left retroperitoneum extending superiorly to the level of the left hilus renalis and inferiorly to the left acetabulum in the pelvic cavity, with intrusion into the lumbar foramens. 18F-FDG PET/CT found a mass in the left retroperitoneum from the level of T12 to the left acetabulum, with the maximum standardized uptake value (SUVmax) of about 7.0, and a CT value of about 39 HU, invading the left L3-5 intervertebral foramina and protruding into the spinal canal, with unclear boundary with the spinal cord. Retroperitoneal tumor resection and the repair operation of vascular exploration were performed. An ARMS was confirmed by postoperative biopsy, immunohistochemical staining, and genetic detection with the rupture of the fork head in rhabdomyosarcoma (FKHR). The patient received chemotherapy and was in a good condition with no recurrence and obvious complications.
Conclusion:
Retroperitoneal ARMS is rare and indicates a poor outcome with the potential to involve vital organs and intrude into the spinal canal. Accurate diagnosis and staging using PET/CT would contribute to better risk stratifications and appropriate treatment individually.