A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene by Christin B. Laufer, Layne B. Green, Darren E. Whittemore

“…She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. …”
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Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma by Leticia Gely, Humberto Lugo-Vicente, María Correa-Rivas, Kary Bouet, Zayhara Reyes Bou, Mohammed Suleiman, Inés García

“…We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. …”
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Severe Varicella Pneumonia. A Pediatric Case Presentation by Ariel Efrén Uriarte Méndez, Jesús Vila Díaz, Andrés Prieto Apesteguía

“…Despite intensive sustained treatment, the patient died a month after diagnosis was performed. Considering how infrequent this complication is in the case of children, it was decided to have the case published.…”
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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene by Amna Ahmed, Badr Alsaleem

“…To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.…”
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Donor-Derived Disseminated Toxoplasmosis in a Liver Transplant Recipient With Documented Sulfa Allergy by Zoe Raglow, Emily Herriman, Gabriel Abrams, Marc Najjar, Christopher J. Sonnenday, Kevin S. Gregg

“…Toxoplasmosis in transplant patients is associated with high mortality, and diagnosis is challenging as the presentation is nonspecific. …”
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Acute Respiratory Distress Syndrome after Treatment of Metastatic Prostate Cancer with Taxotere: A Case Report and Literature Review by Ali Raufi, Jennifer Dotson, Mohamad Khasawneh

“…Better awareness and prompt diagnosis of this treatment related ARDS will improve the effectiveness and outcome of its management.…”
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Congenital Infiltrating Lipomatosis of the Face: A Case Report by Asha Mahadevappa, Vanisri H. Raghavan, Sunila Ravishankar, Gubbanna V. Manjunath

“…We report a case of a nine-month-old infant who presented with swelling over right face since birth. Early diagnosis of this lesion provides better surgical approach to control the infiltrative nature of its growth with recurrence and aesthetic appearance.…”
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Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness by Jad Al Danaf, John Madara, Caitlin Dietsche

“…This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.…”
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An Incidentally Detected Right Ventricular Pseudoaneurysm by Vamsi C. Gaddipati, Angel I. Martin, Mauricio O. Valenzuela, Asef Mahmud, Aarti A. Patel

“…Ventricular pseudoaneurysm is an uncommon, potentially fatal complication that has been associated with myocardial infarction, cardiac surgery, chest trauma, and infectious processes. Diagnosis can be challenging, as cases are rare and slowly progressing and typically lack identifiable features on clinical presentation. …”
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Catamenial Hemoptysis and Pneumothoraces in a Patient with Cystic Fibrosis by Chris M Parker, Robert Nolan, M Diane Lougheed

“…Thoracic computed tomography and magnetic resonance imaging scans, as well as a bronchosopic evaluation that demonstrated endobronchial lesions that disappeared after menses, support the diagnosis of TES in the present patient. The patient was treated empirically with danazol and subsequently underwent a successful double-lung transplantation. …”
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An Unusual Presentation of a Posterior Mediastinal Schwannoma Associated with Traumatic Hemothorax by Ruchi Amin, Brett H. Waibel

“…Specific serological markers do not exist for this tumor, and radiographic findings can be variable, so tissue diagnosis is of importance in differentiating benign from malignant schwannomas, as well as other posterior mediastinal tumors. …”
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Fat Embolism Syndrome: A Case Report and Review Literature by Nattaphol Uransilp, Sombat Muengtaweepongsa, Nuttawut Chanalithichai, Nattapol Tammachote

“…Fat embolism syndrome (FES) is a life-threatening complication in patients with orthopedic trauma, especially long bone fractures. The diagnosis of fat embolism is made by clinical features alone with no specific laboratory findings. …”
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Unique Cytokine Signature in the Plasma of Patients with Fibromyalgia by Jamie Sturgill, Elizabeth McGee, Victoria Menzies

“…The lack of a clear etiology of FMS has limited the effective diagnosis and treatment of this debilitating condition. …”
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Peritoneal Mullerian Tumor-Like (Endosalpingiosis-Leiomyomatosis Peritoneal): A Hardly Known Entity by Rosa Bermejo, Alicia Gómez, Nuria Galiana, Antonio Campos, Rebeca Puente, Ernesto Bas, Carmen Díaz-Caneja

“…The omentum and several fragments of the abdominal peritoneum were also removed. Microscopic diagnosis was Disseminated Peritoneal Endosalpingiosis-Leiomyomatosis.…”
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Regarding the Current Debate on Aging in Cuba by Alfredo Darío Espinosa Brito

“…It is considered that there is a lot of information about the “diagnosis” and “prognosis” of population aging, but there is less about effective actions for its “treatment”, a complex and difficult aspect to face. …”
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Lymphomatoid granulomatosis with rare manifestations. Case report by Pedro Rosales Torres, Pedro León Acosta

“…It occurs in this patient accompanied by neurological injury; The diagnosis was only possible by anatomopathological studies. …”
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A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene by Dhillon B. Zaver, Nathan T. Douthit

“…Despite its infrequency in adults and the difficulty in diagnosis, the prevalence of AxD has been increasing due to ease of genetic analysis and identification of key clinical and radiological findings. …”
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De Novo Subgaleal Abscess by JP Schaefer, LJ Clein, JM Conly

“…She presented with occipital scalp pain and swelling which rapidly became generalized two days following recovery from an upper respiratory infection. Diagnosis was based on radiological examination and aspiration of the subgaleal space, which yielded a purulent exudate with a pure growth of Streptococcus pyogenes. …”
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Radiation Recall Dermatitis following Radioactive Iodine Therapy: A New Observation by Ikechukwu Chidobem, Tahereh Orouji Jokar, Chisom Mgbodile, Francis Mgbodile, Ghassan Bassil, Nazia Khan

“…This confirmed radiation recall dermatitis (RRD) as the most likely diagnosis. RRD is an inflammatory reaction occurring in a previously irradiated field and was first described in 1959. …”
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Ovarian Fetiform Teratoma in 38 Years Nulliparous Woman: A Case Report by Desalew Gedamu, Mekitie Wondafrash, Meron Berhanu

“…It is important to distinguish this highly differentiated benign neoplasm with potential somatic malignant transformation from Fetus in fetu and ectopic pregnancy. To establish the diagnosis, a thorough clinicopathologic examination, laboratory tests for pregnancy and relevant cytogenetic tests for Zygosity should be performed.…”
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