OpenMed/multicare-articles huggingface dataset:
Kidney Disease in Ankylosing Spondylitis: a case series and review of the literature
Authors: Ana Cunha Rodrigues, Joana Cristóvão Marques, Marina Reis, Mário Góis, Helena Sousa, Fernando Nolasco
Journal: J Bras Nefrol (2023)
MeSH terms: Amyloidosis / pathology, Glomerulonephritis, IGA / epidemiology, Nephritis, Interstitial, Spondylitis, Ankylosing / complications, Spondylitis, Ankylosing / pathology, Review, Case Reports, Adult, Biopsy, Female, Humans, Kidney / pathology, Male, Middle Aged, Retrospective Studies, AA amyloidosis

Background:
Kidney disease is a rare manifestation of ankylosing spondylitis (AS) and its pathological alterations remain poorly described. The aim of this study was to investigate the clinical presentation and pathological alterations on kidney biopsy of AS patients and review and discuss the current literature on the issue.
Methods:
We retrospectively studied the clinical presentation and kidney pathological alterations of 15 Caucasian AS patients submitted to kidney biopsy between October 1985 and March 2021.
Results:
Patients were predominantly male (66.7%) with median age at the time of kideney biopsy of 47 years [IQR 34 - 62]. Median serum creatinine at presentation was 1.3 mg/dL [IQR 0.9 - 3] and most patients also had either proteinuria (85.7%) and/or hematuria (42.8%). The most common indication for kidney biopsy was nephrotic syndrome (33.3%), followed by acute or rapidly progressive kidney injury (20%) and chronic kidney disease of unknown etiology (20%). Chronic interstitial nephritis (CIN) (n=3) and AA amyloidosis (n=3) were the most common diagnosis. Others included IgA nephropathy (IgAN) (n=2), focal segmental glomerulosclerosis (n=2), membranous nephropathy (n=1), and immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN)(n=1).
Conclusions:
We present one of the largest series of biopsy-proven kidney disease in Caucasian AS patients. We found a lower prevalence of IgAN than previously reported in Asian cohorts. We found a higher prevalence of CIN and a lower prevalence of AA amyloidosis than that described in previous series of Caucasian patients. We also present the first case of AS-associated IC-MPGN.
Uterine Fibroid Torsion during Pregnancy: A Case of Laparotomic Myomectomy at 18 Weeks' Gestation with Systematic Review of the Literature
Authors: Annachiara Basso, Mariana Rita Catalano, Giuseppe Loverro, Serena Nocera, Edoardo Di Naro, Matteo Loverro, Mariateresa Natrella, Salvatore Andrea Mastrolia
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Uterine myomas are the most common benign growths affecting female reproductive system, occurring in 20-40% of women, whereas the incidence rate in pregnancy is estimated from 0.1 to 3.9%. The lower incidence in pregnancy is due to the association with infertility and low pregnancy rates and implantation rates after in vitro fertilization treatment. Uterine myomas, usually, are asymptomatic during pregnancy. However, occasionally, pedunculated fibroids torsion or other superimposed complications may cause acute abdominal pain. There are many controversies in performing myomectomy during cesarean section because of the risk of hemorrhage. Nevertheless, the majority of indication arises before labor and delivery due to acute symptoms leading to a discussion regarding the need for intervention during pregnancy. Therefore, we present a case of successful multiple laparotomic myomectomy at 17 + 2 weeks of gestational age and a systematic review of the literature in order to clarify the approach to this pathologic condition and its effect on pregnancy outcome.
Basal cell carcinoma in a child
Authors: Samet Vasfi Kuvat, Zuhal Gücin, Barış Keklik, Gülzade Ozyalvaçlı, Karaca Başaran
Journal: J Skin Cancer (2011)
MeSH terms: Case Reports

Basal cell carcinoma is the most commonly seen nonmelanoma skin cancer which is rarely encountered in the childhood period. An 11-year old child was admitted to our clinic due to an erythematous and a slightly pigmented lesion with a 3 × 4 cm diameter on his posterior scalp. Macroscopically, the lesion was excised with a 10 mm safety margin. Pathologic examination revealed a basal cell carcinoma. No symptoms or signs of a syndrome were observed both in the patient and his family.
FARS2 Mutations: More Than Two Phenotypes? A Case Report
Authors: Mostafa Hotait, Wassim Nasreddine, Riyad El-Khoury, Maya Dirani, Omar Nawfal, Ahmad Beydoun
Journal: Front Genet (2020)
Keywords: fars2, juvenile onset epilepsy, mitochondrial epilepsy, mitochondrial trna synthetase, refractory status epilepticus
MeSH terms: Case Reports

FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linked, juvenile onset refractory epilepsy, caused by a hemizygous mutation in a compound heterozygous state (p.V197M and exon 2 microdeletion). A 17-year- old woman with normal development presented with a super refractory focal motor status epilepticus. Only an emergency life-saving surgery aborted her status after all therapeutic interventions, including anesthesia, failed to control her seizures. Pathological and biochemical activities on muscle biopsy showed mitochondrial proliferation with enhanced isolated activities of complexes II and IV, suggestive of a compensatory mechanism for the bioenergetic deficiency. Postoperatively, the patient started experiencing focal aware motor seizures originating from the contralateral hemisphere after being seizure free for a few months. This report suggests a third phenotypic manifestation of FARS2 gene mutation.
A Foregut Duplication Cyst of the Stomach in Association with a Gastrointestinal Stromal Tumor and a Leiomyoma: A Case Report
Authors: Andréanne Gagné, Olga Sazonova, Simon Marceau, Martine Périgny, Philippe Joubert
Journal: Case Rep Pathol (2016)
MeSH terms: Case Reports

Objectives. Duplication cysts are rare benign lesions usually arising in the gastrointestinal tract. We report a case of a 52-year-old woman with an incidental gastric mass found on computed tomography during a pregraft workup for a familial cardiomyopathy. Methods. The mass was completely excised by partial gastrectomy and gross examination revealed a cystic lesion containing two small solid nodules in its wall. Microscopic evaluation and immunohistochemistry study were performed to further characterize the cyst and the nodules. A comprehensive literature review of the NCBI database PubMed was also carried out. Results. While the cyst was diagnosed as a foregut duplication cyst, the solid nodules proved to be concomitant gastrointestinal stromal tumor (GIST) and leiomyoma. Both morphologic features and immunohistochemistry stains, including CD117, smooth muscle actin, and CD34 supported the diagnosis. Clinical course was benign and the patient had no clinical evidence of relapse ten months following the surgical procedure. The literature search did not reveal any other published case of a foregut duplication cyst presenting in combination with a GIST and a leiomyoma. Conclusions. To our knowledge, this is the first case of a composite lesion comprising a foregut duplication cyst of the stomach along with a leiomyoma and a GIST.
Unilateral Eyelid Edema as Initial Sign of Orbital Sarcoidosis
Authors: Sílvia Miguéis Picado Petrarolha, Bruna Suda Rodrigues, Flávio David Haddad Filho, Rogério Aparecido Dedivitis, Samuel Brunini Petrarolha, Pedro Martins Tavares Scianni Morais
Journal: Case Rep Ophthalmol Med (2016)

Introduction. Sarcoidosis is a rare multisystemic granulomatous inflammatory disease of unknown etiology affecting the respiratory system, skin, and eyes. Sarcoidosis outside the lacrimal gland is rare. The case study concerns a patient with a final diagnosis of orbital sarcoidosis. Case Report. A 37-year-old male patient went to the ophthalmic emergency room complaining of pain in the left eye, diplopia, and decreased visual acuity. An external eye examination showed hard and cold edema of the lower eyelid, ocular motility with limitation of adduction, and discreet ipsilateral proptosis. Magnetic resonance of the orbit showed left eye proptosis and thickening and increase of soft tissues associated with heterogeneous impregnation of contrast in the infralateral region of the left eyelid. A biopsy of the lesion showed a chronic inflammatory process, with numerous compact nonnecrotizing granulomas surrounded by lamellar hyaline collagen, providing histological confirmation of sarcoidosis. Discussion. A biopsy of the orbital tumor is essential for the diagnosis of sarcoidosis, in addition to the search for systemic findings such as hilar adenopathy or parenchymal lung disease found in 90% of patients.
FOLFOX Induced Takotsubo Cardiomyopathy Treated with Impella Assist Device
Authors: Swethika Sundaravel, Abdulah Alrifai, Mohamad Kabach, Waqas Ghumman
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Chemotherapy induced cardiotoxicity is becoming increasingly prevalent with several new agents being used recently. The incidence of Takotsubo cardiomyopathy due to 5-fluorouracil based chemotherapeutic regimens like FOLFOX is not uncommon. It is also seen with platinum based chemotherapy. Most of these patients have reversible cardiotoxicity and the cardiac function recovers within a short period with supportive treatment. Here we have a patient who presented with cardiogenic shock after 5 days of receiving FOLFOX regimen for colorectal adenocarcinoma. She was treated with a percutaneous left ventricular assist device, Impella CP, for hemodynamic support with excellent outcome.
Myocardial Infarction after Long-Term Treatment with a Tyrosine Kinase Inhibitor (TKI) with Anti-VEGF Receptor Activity
Authors: L Paschke, T Lincke, K Mühlberg, Tom H Lindner, R Paschke
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

TKIs including anti-VEGF receptor activity have been approved for the treatment of patients with radioiodine resistant thyroid carcinomas. For lenvatinib arterial thromboembolic events are listed as adverse events of special interest with lenvatinib. In the phase III study, arterial thromboembolic events were reported in 3% of lenvatinib-treated patients and 1% in the placebo group. Most of the patients had predisposing factors. Only one myocardial infarct was reported in the lenvatinib phase III study. We report a 73-year-old female patient with metastatic thyroid papillary carcinoma who was treated with total thyroidectomy. The operation was followed by four radioiodine therapies over a period of 6 years. At 6 years she developed lung metastasis without radioiodine uptake, one solitary liver metastasis and one solitary right renal metastasis. One year after the first diagnosis of radioiodine resistant lung metastasis the lung metastasis showed progression according to RECIST criteria. This treatment was resulting in prolonged partial response with disappearance of a hepatic and renal metastasis. A myocardial infarction occurred after 39 months of lenvatinib treatment resulting in implantation of 3 stents and a two chamber pacemaker. The treatment was discontinued. Except for well controlled hypertension there were neither predisposing diseases like diabetes nor symptoms of cardiac ischemia on exertion. However, the family history for cardiovascular diseases was positive for cardiac infarction reported for one brother. Another brother was treated for hypertension and the patient's mother suffered from a cerebral infarction at the age of 60. While only one myocardial infarct was reported in the lenvatinib phase III study with 392 patients this case suggests that long-term treatment with lenvatinib may be associated with an increased risk for myocardial infarct also in patients with no predisposing diseases except well controlled hypertension and positive family history for cardiovascular diseases.
E-Cigarette or Vaping Product Use-Associated Lung Injury (EVALI) Mimicking COVID-19 Disease
Authors: Jose A Rodriguez, Alejandra A Roa, Juan C Lemos-Ramirez
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Background:
Coronavirus 2 (SARS-CoV-2) is the virus associated with the coronavirus disease (COVID-19) causing a pandemic worldwide in 2020. There are other noninfectious diseases that can present exactly as COVID-19, and the management and approach are completely different, hence the importance of understanding and having a wide differential in patients presenting with similar characteristics. Case Report. A 23-year-old male, with a history of childhood asthma, presented to the Emergency Department in a hospital in south Florida in the USA with complaints of a 2-day duration of subjective fever, chills, dry cough, dyspnea, and myalgia. His vital signs were blood pressure 135/65 mmHg, temperature 39°C, pulse 134 bpm, respiratory rate 22 breaths per minute, and saturation of oxygen 96% in room air. Laboratory analysis was significant for white blood cells 15.3 × 103/μL, ALT 69 U/L, AST 66 U/L, ferritin 375.6 ng/mL, C-reactive protein 27.70 mg/dL, and procalcitonin 1.43 ng/mL. A respiratory pathogen panel (RPP) and a SARS-CoV-2 test were both negative. The patient was given empiric antibiotic treatment and hydroxychloroquine. Two more tests for SARS-CoV-2 were negative, and the patient reported that he smoked marijuana through an e-cigarette. The patient was started on high-dose steroids, and symptoms improved.
Conclusion:
COVID-19 is an emergent lung disease that is affecting the population worldwide; many other noninfectious diseases can mimic its presentations and laboratory characteristics; the importance of having a broad differential diagnosis especially in causing confusion during pandemic times is valuable in the management of patients with such presentations, such as EVALI, and glucocorticoids will be indicated in this circumstances.
Hand Furuncular Myiasis of an Infant in the Western Region of Saudi Arabia: A Case Report
Authors: Weaam S Magram, Hadeer Y Albakri, Adil N Althobaity, Reham M Makki, Abrar T Monaqil
Journal: Cureus (2023)
Keywords: cordylobia anthropophaga, cutaenous myiasis, dermatobia hominis, furuncular myiasis, western region of saudi arabia
MeSH terms: Case Reports

Furuncular myiasis is a rare disease that affects the skin and is caused by growing maggots of different types of fly species within the arthropod order Diptera. The symptoms of the disease include itching, a sensation of movement, and sometimes fever. The disease predominantly occurs in tropical and subtropical areas. In Saudi Arabia, furuncular myiasis is reported to occur frequently in the Western region. Herein, we present a case of a 10 months-old Saudi girl who came with multiple lesions over her scalp and left hand starting five days following a trip to Al Shafa, southwest of Saudi Arabia. The patient's lesion was red, solid, and increased in size gradually. On examination, a papule with a central punctum was present on the left hand at the dorsal aspect of the first web space. The patient underwent an urgent operation to extract the larvae under general anesthesia. Excision of the furuncular myiasis larvae was done using a punch-biopsy blade with pressurized irrigation of the pocket with normal saline and diluted betadine solution. After two weeks, the patient showed a completely recovered skin infection. Having sufficient clinical awareness is necessary to prevent such disease, diagnose it, and prevent further spreading.
Segmental odontomaxillary dysplasia: review of the literature and case report
Authors: Riya M Kuklani, Madhu K Nair
Journal: Int J Dent (2010)
MeSH terms: Case Reports

Segmental Odontomaxillary Dysplasia (SOD) is an uncommon, nonhereditary, recently recognized developmental disorder affecting the upper jaw and related dental components. It is a rare condition of uncertain etiology that results in painless unilateral expansion of the posterior dentoalveolar complex, gingival hyperplasia, lack of one or both premolars in the affected area, delayed eruption of adjacent teeth and malformations of the primary molars. Radiographically, the affected bone is thickened and irregular in outline, with coarse trabecular pattern that is vertically oriented resulting in a relatively radiopaque granular appearance. Only a few cases have been reported in the English literature. Considering the rarity of the condition, we report a case of SOD in a pediatric patient who was followed up over a period of over two years. The clinical, radiographic, and histologic features are presented along with a review of the literature.
Systemic Lupus Erythematosus Presenting With Thrombotic Thrombocytopenic Purpura at Onset: A Case Report
Authors: Yoko Takagi, Yasuko Kobayashi, Ayako Hirakata, Mariko Takei, Satoshi Ogasawara, Chikage Yajima, Yuka Ikeuchi, Akira Matsumoto, Yoshiyuki Ogawa, Hiroshi Handa, Masanori Matsumoto, Hirokazu Arakawa, Takumi Takizawa
Journal: Front Pediatr (2022)
Keywords: adamts13 activity, anti-adamts13 antibody, lupus nephritis, platelet thrombosis, systemic lupus erythematosus, thrombotic microangiopathy, thrombotic thrombocytopenic purpura, von willebrand factor
MeSH terms: Case Reports

Background:
Thrombotic microangiopathy (TMA) is a syndrome associated with hemolytic anemia, thrombocytopenia, and various organ disorders. Thrombotic thrombocytopenic purpura (TTP) is a disease that develops when a disintegrin-like and metalloproteinase with thrombospondin type l motif 13 (ADAMTS13) activity decreases to < 10% of that in normal plasma, causing platelet thrombosis in microvessels throughout the body. Currently, ADAMTS13-deficient TMA is diagnosed as TTP. Systemic lupus erythematosus (SLE)-related TMA includes both acquired TTP, in which ADAMTS13 activity is significantly reduced, and secondary TMA, in which ADAMTS13 activity is not reduced. Both diseases have different prognoses.
Case presentation:
An 11-year-old girl was admitted to our hospital on suspicion of TMA with thrombocytopenia and hemolytic anemia. Because the patient had hypocomplementemia, SLE-related TMA or complement-related TMA was considered. Therefore, we initiated plasma exchange (PE) for the patient. Subsequently, she fulfilled the pediatric SLE diagnostic criteria, and ADAMTS13 activity was shown to be decreased and the anti-ADAMTS13 antibody titer increased. She was thus diagnosed with acquired TTP caused by SLE. Treatment response was good as a platelet count and ADAMTS13 activity improved with three times of PE, followed by methylprednisolone pulse therapy and administration of mycophenolate mofetil. Renal pathology showed thrombus formation in glomerular arterioles and lupus nephritis categorized as Class III (A) of the International Society of Nephrology and the Renal Pathology Society classification. Because the patient was thought to be in the high-risk group of SLE, three courses of intravenous cyclophosphamide pulse therapy were administered as an additional induction therapy. No recurrence of TTP was observed.
Conclusion:
In SLE-related TMA, measurement of ADAMTS13 activity and the anti-ADAMTS13 antibody titer are necessary for diagnosis, and for predicting prognosis and recurrence of the disease; however, in the acute phase of immune-mediated TMA, it is important to initiate proper treatments even before knowing the results to improve prognosis.
Coinfection with SARS-CoV-2 and Cytomegalovirus in a Patient with Mild COVID-19
Authors: Kazuya Ura, Yumi Goubaru, Misato Motoya, Hidehiro Ishii
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Persistent fever due to coronavirus disease 2019 (COVID-19) is a considerable issue for patients and physicians that requires a broad differential diagnosis and evaluation of complications. Coinfections with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and various respiratory viruses have also been reported. In severe cases of COVID-19, cytomegalovirus (CMV) reactivation or CMV coinfection with SARS-CoV-2 has been reported in association with critical illnesses and immunosuppressive therapy; however, in mild COVID-19 cases, CMV coinfection with SARS-CoV-2 has been reported only in severely immunocompromised patients, and its incidence and clinical importance remain unclear. Herein, we report a rare case of coinfection with SARS-CoV-2 and CMV in a patient with mild COVID-19 and untreated diabetes mellitus, which led to persistent fever for approximately 4 weeks. CMV coinfection should be considered in patients with COVID-19 who exhibit persistent fever.
Ectopic Thyroid Tissue in the Mediastinum Characterized by Histology and Functional Imaging with I-123 SPECT/CT
Authors: Jed Hummel, Jason Wachsmann, Kelley Carrick, Orhan K Oz, Dana Mathews, Fangyu Peng
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Ectopic thyroid tissue is a rare entity and when discovered it is typically along the pathway of embryologic migration of the thyroid. We present a case of incidental finding of ectopic thyroid tissue within mediastinum in a 61-year-old female patient with a history of total thyroidectomy for thyroiditis and nodules. The patient presented to emergency room with cough and right chest pain and underwent a chest computed tomographic angiogram (CTA) to exclude pulmonary embolism as part of chest pain workup. One right paratracheal mediastinal soft tissue nodule was visualized on the images of CTA. This right paratracheal soft tissue mass was found to be ectopic benign thyroid tissue by histological analysis of the biopsied tissue samples. The function of this ectopic thyroid tissue was characterized by I-123 radioiodine uptake and single photon emission computed tomography/computed tomography (SPECT/CT) imaging. This case illustrates that ectopic thyroid tissue should be included for differential diagnosis of a hyperdense soft tissue mass located within mediastinum. I-123 SPECT/CT is useful for guiding tissue biopsy of ectopic thyroid tissue distant from orthotopic thyroid gland and functional and anatomic characterization of mediastinal ectopic thyroid tissue for surgical resection when it is medically necessary.
Combination Therapy with Nintedanib and Sarilumab for the Management of Rheumatoid Arthritis Related Interstitial Lung Disease
Authors: Caterina Vacchi, Andreina Manfredi, Giulia Cassone, Carlo Salvarani, Stefania Cerri, Marco Sebastiani
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Rheumatoid arthritis (RA) is a chronic, systemic, inflammatory disease characterized by joint and extra-articular involvement. Among them, interstitial lung disease (ILD) is one of the most common and severe extra-articular manifestations, with a negative impact on both therapeutic approach and overall prognosis. ILD can occur at any point of the natural history of RA, sometimes before the appearance of joint involvement. Since no controlled studies are available, the therapeutic approach to RA-ILD is still debated and based on empirical approaches dependent on retrospective studies and case series. Here, we report the case of a 75-year-old patient affected by RA complicated by ILD successfully treated with a combination therapy of an antifibrotic agent, nintedanib, and an inhibitor of IL-6 receptor, sarilumab. We obtained a sustained remission of the joint involvement and, simultaneously, a stabilization of the respiratory symptoms and function, with a good safety profile. To date, this is the first report describing a combination therapy with nintedanib and a disease-modifying antirheumatic drug (DMARD) for the management of RA complicated by ILD. Future prospective studies are needed to better define efficacy and safety of this approach in the treatment of these subjects.