OpenMed/multicare-articles huggingface dataset:
Case Report: Differential Genomics and Evolution of a Meningeal Melanoma Treated With Ipilimumab and Nivolumab
Authors: Remberto Burgos, Andrés F Cardona, Nicolas Santoyo, Alejandro Ruiz-Patiño, Juanita Cure-Casilimas, Leonardo Rojas, Luisa Ricaurte, Álvaro Muñoz, Juan Esteban Garcia-Robledo, Camila Ordoñez, Carolina Sotelo, July Rodríguez, Zyanya Lucia Zatarain-Barrón, Diego Pineda, Oscar Arrieta
Journal: Front Oncol (2022)
Keywords: gnaq, tert, genomics, immunotherapy, melanoma, meningeal melanocytic tumor, radiosurgery
MeSH terms: Case Reports

Primary melanocytic tumors of the CNS are extremely rare conditions, encompassing different disease processes including meningeal melanoma and meningeal melanocytosis. Its incidence range between 3-5%, with approximately 0.005 cases per 100,000 people. Tumor biological behavior is commonly aggressive, with poor prognosis and very low survivability, and a high recurrence rate, even after disease remission with multimodal treatments. Specific genetic alterations involving gene transcription, alternative splicing, RNA translation, and cell proliferation are usually seen, affecting genes like BRAF, TERT, GNAQ, SF3B1, and EIF1AX. Here we present an interesting case of a 59-year-old male presenting with neurologic symptoms and a further confirmed diagnosis of primary meningeal melanoma. Multiple therapy lines were used, including radiosurgery, immunotherapy, and chemotherapy. The patient developed two relapses and an evolving genetic makeup that confirmed the disease's clonal origin. We also provide a review of the literature on the genetic basis of primary melanocytic tumors of the CNS.
Favorable Outcome of COVID-19 Pneumonia in a Kidney Transplant Recipient Treated with Tocilizumab
Authors: Adnane Guella, Osman Elfadil, Ghisson Abdulrazaq, Sahla Osman, Mohammed Munir Khan, Abdalla Ahmed, Feras Deyab
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

The presentation of COVID-19 pneumonia in kidney transplant recipients is similar to that of the general population. However, in the former, it may have a worse clinical course. We report a kidney transplant patient affected by COVID-19 pneumonia whose condition worsened 9 days after the initial presentation. As no therapeutic guidelines on the subject are currently available, here we share our approach in the management of the immunosuppressive medications and the antiviral therapy and compare them to the scarce available data. We also expose the use of tocilizumab in our patient with excellent results.
Bilateral Ischemic Optic Neuropathy Developed under Interferon Therapy
Authors: Fatih Selcukbiricik, Deniz Tural, Tuba Elif Senel, Ahmet Sarıca, Ozlem Soyluk, Suheyla Serdengecti
Journal: Case Rep Ophthalmol Med (2012)

Introduction. Interferon is a glycoprotein produced by assigned cells of immune system. It has been used in many different diseases. Although flu-like syndrome, myalgia, rash, hypotension, thrombocytopenia and peripheral neuropathy due to interferon use are encountered frequently, ocular side effects are rare, generally mild and transient. Case Report. 47-year-old female patient, presented with a mass lesion in right renal pelvis. Right radical nephrectomy was applied and the histopathological examination was consistent with papillary renal cell carcinoma. Interferon alpha treatment was started subcutaneously at the dose of 5 MIU/3 times in a week. Four weeks after the interferon therapy, suddenly bilateral visual loss developed. We discussed the diagnosis, followup, and treatment of the patient who developed irreversible ischemic optic neuropathy and had no previous known primary systemic disease to cause this condition. Conclusion. We suggest that patients should be screened for risk factors causing optic ischemic neuropathy, before interferon therapy. Although there was no adequate information in the literature for the followup, patients should be monitorized before, 1 month after, and 2 months after the treatment. And if there is no complication, we suggest that they should be followed up at 3-month intervals.
Extensive pericardial calcification secondary to radiotherapy, causing mixed constrictive-restrictive pathology
Authors: Miguel Paniagua González, María Luisa Sánchez Alegre
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

This report presents the case of a patient who suffered from a mediastinal neuroblastoma in his childhood (in 1977), having been treated by surgery, chemotherapy and radiotherapy. As a result, he developed multiple calcifications in the atria walls, interatrial septum, right ventricular free wall, mitral and aortic valves and pericardium, triggering a mixed constrictive and restrictive pathology.
Primary intraosseous squamous cell carcinoma of the mandible: a case with atypical imaging features
Authors: João Lopes Dias, Alexandra Borges, Rafaela Lima Rego
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Primary intraosseous squamous cell carcinoma is a rare malignant tumour that exclusively arises within the jaws. Its diagnosis requires an appropriate clinical, imaging and histological correlation. The exclusion of primary oral mucosa lesions and metastatic disease is mandatory. We report an atypical imaging appearance of this uncommon entity, characterized by new bone formation and periosteal reaction that resemble sarcomatous or malignant odontogenic tumours. A comprehensive discussion on the embryological principles of primary intraosseous squamous cell carcinoma is also provided.
Primary gastric lymphoma in a soldier presenting as acute gastrointestinal bleeding
Authors: Ishay Ostfeld, Roei Hod Feins, Ory Rouvio, Lev Dorfman, Jacob Moran-Gilad
Journal: Disaster Mil Med (2015)
Keywords: gastrointenstinal, hemorrhage, lymphoma, soldier
MeSH terms: Case Reports

Acute epigastric pain is commonly encountered among young adults undergoing military training. Gastric malignancy usually affects older individuals and may occasionally masquerade as peptic disease. We report a case of primary gastric lymphoma (PGL) in a young soldier, presenting as an acute upper gastrointestinal tract bleeding. The case is presented along with a review of the relevant literature. Primary care physicians should bear in mind that although highly unusual in this age group, primary gastric lymphoma may occasionally afflict young adults and military recruits as demonstrated by the case under discussion. Nevertheless, referral for investigation of suspected peptic disease should follow standard guidelines.
Net technique for intraocular lens support in aphakia without capsular support
Authors: Fernando José De Novelli, Theodomiro Lourenço Garrido Neto, Gabriel de Sena Rabelo, Marcel Eduardo Blumer, Ricardo Suzuki, Ramon Coral Ghanem
Journal: Int J Retina Vitreous (2017)
Keywords: aphakia, intraocular lenses, lens implantation, postcataract

Background:
This paper describes a modified surgical technique for intraocular lens implantation in aphakic eyes with no capsular support.
Methods:
Retrospective case series. Seventeen eyes of 17 aphakic patients with no capsule support underwent intraocular lens (IOL) implantation using a standardized technique in which a net was created at the ciliary sulcus plane with two threads forming a net pattern. The net was used as support for the IOL. Follow-up ranged from 6 to 38 months, with an average of 23 months.
Results:
In all cases, the IOL was safely implanted and remained stable during the follow-up. In 16 eyes, the IOL remained well centered; in one eye, slight decentration was observed. Distance-corrected visual acuity improved by a mean of 4 lines, from 1.13 (LogMAR) to 0.52 (P = 0.01).
Conclusion:
This technique might be especially useful in cases of insufficient capsular support associated with tissue loss or iris atrophy. In these cases, iris fixation is not feasible; thus, the only surgical alternative is IOL scleral fixation.
Mechanisms of team-sport-related brain injuries in children 5 to 19 years old: opportunities for prevention
Authors: Michael D Cusimano, Newton Cho, Khizer Amin, Mariam Shirazi, Steven R McFaull, Minh T Do, Matthew C Wong, Kelly Russell
Journal: PLoS One (2013)
MeSH terms: Athletic Injuries / epidemiology, Brain Injuries / epidemiology, Brain Injuries / etiology, Research Support, Non-U.S. Gov't, Adolescent, Age Factors, Athletic Injuries / prevention & control, Brain Injuries / prevention & control, Canada, Child, Child, Preschool, Female, Humans, Incidence, Male, Sports, Time Factors, Young Adult

Background:
There is a gap in knowledge about the mechanisms of sports-related brain injuries. The objective of this study was to determine the mechanisms of brain injuries among children and youth participating in team sports.
Methods:
We conducted a retrospective case series of brain injuries suffered by children participating in team sports. The Canadian Hospitals Injury Reporting and Prevention Program (CHIRPP) database was searched for brain injury cases among 5-19 year-olds playing ice hockey, soccer, American football (football), basketball, baseball, or rugby between 1990 and 2009. Mechanisms of injury were classified as "struck by player," "struck by object," "struck by sport implement," "struck surface," and "other." A descriptive analysis was performed.
Results:
There were 12,799 brain injuries related to six team sports (16.2% of all brain injuries registered in CHIRPP). Males represented 81% of injuries and the mean age was 13.2 years. Ice hockey accounted for the greatest number of brain injuries (44.3%), followed by soccer (19.0%) and football (12.9%). In ice hockey, rugby, and basketball, striking another player was the most common injury mechanism. Football, basketball, and soccer also demonstrated high proportions of injuries due to contact with an object (e.g., post) among younger players. In baseball, a common mechanism in the 5-9 year-old group was being hit with a bat as a result of standing too close to the batter (26.1% males, 28.3% females).
Interpretation:
Many sports-related brain injury mechanisms are preventable. The results suggest that further efforts aimed at universal rule changes, safer playing environments, and the education of coaches, players, and parents should be targeted in maximizing prevention of sport-related brain injury using a multifaceted approach.
Cerebrovascular Accident: An Initial Presentation of Atrial Myxoma in a Young Female
Authors: Nkemputaife P Onyechi, Henry C Egbuchiem, James P Cappello
Journal: Cureus (2023)
Keywords: cva, echocardiogram, emboli, left atrium, myxoma, neurovascular deficits
MeSH terms: Case Reports

Myxomas make up roughly half of all primary cardiac tumors, with three-quarters originating in the left atrial cavity and one-quarter in the right. These tumors can occur sporadically or in families. Atrial myxomas are classified as severe based on factors such as their size, the patient's age and gender, and the tumor's proclivity to embolize or occlude coronary vessels. The case of a young female with an unusual presentation of left atrial myxoma and a new neurovascular deficit is discussed.
Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V
Authors: Chao Fu, Zhenyu Wang, Libo Wang, Jia Li, Qiuling Sang, Jiajun Chen, Ling Qi, Hui Jin, Xiaoyang Liu
Journal: Front Neurol (2018)
Keywords: scn4a, mutations, normokalemic periodic paralysis, pedigree, respiratory muscle paralysis
MeSH terms: Case Reports

Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Familial NormoKPP caused by the p.M1592V mutation of the skeletal muscle sodium channel alpha subunit (SCN4A) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the SCN4A p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the SCN4A p.M1592V mutation, in which respiratory muscle paralysis occurred in the proband while not in his children. Moreover, we conducted a thorough literature review. To our knowledge, this is the first report of respiratory muscle paralysis as a symptom of NormoKPP associated with mutation in the SCN4A p.M1592V.
Recurrent Incisional Hernia due to Pseudomyxoma Peritonei
Authors: Zafer Ergul, Engin Olcucuoglu, Hakan Kulacoglu, Cenap Dener
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Pseudomyxoma peritonei is a rare but challenging neoplastic disease which is characterized with intraperitoneal mucinous-gelatinous fluid accumulation. It rarely presents as a mass mimicking abdominal wall hernias A recurrent incisional hernia due to pseudomyxoma peritonei is presented here. A 60-year-old female patient had been operated on for a left mucinous ovarian cyst 20 cm in diameter in 1998. Mucinous material had disseminated into interloop spaces through the right subdiaphragmatic region. Total abdominal hysterectomy + bilateral salpingooophorectomy and peritoneal toilet had been performed. She was rehospitalized for abdominal distention and a 4 cm defect over the incision and underwent a hernia repair using polypropylene mesh in 2001. Abdominal distention recurred to give a rise to an incisional hernia in 2006. She was reoperated for decompression and repair, but nothing could be done because of sticky adhesions and the incision were simply closed. The patient was referred to our department for operation. A prosthetic hernia repair with 30 × 30 cm polypropylene mesh was performed. The patient was discharged on the postoperative 5th day following an uneventful recovery. However, she died of disseminated disease after 18 months.
Case report: Rechallenge with EGFR-TKIs after immunotherapy in EGFR-mutated non-small cell lung cancer with leptomeningeal metastasis
Authors: Chunfa Qian, Yuhai Zhang, Wanwan Cheng, Qingchao Zhang, Mengzhen Li, Shencun Fang
Journal: Front Oncol (2022)
Keywords: egfr-tkis rechallenge, immune checkpoint inhibitor, leptomeningeal metastasis, lung adenocarcinoma, the third generation egfr-tkis
MeSH terms: Case Reports

Rechallenge of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) after PD-1 blockade failure was an effective therapy for non-small cell lung cancer (NSCLC) patients with resistance to EGFR-TKIs. The third-generation TKIs, like osimertinib and furmonertinib, can reach higher concentration in the cerebrospinal fluid (CSF) than other TKIs, and exhibit a beneficial effect in NSCLC patients with leptomeningeal metastases (LM) harboring sensitive EGFR mutation. Here, we report that two-stage IV pulmonary adenocarcinoma patients with LM harboring an EGFR L858R mutation benefit from the third-generation EGFR-TKIs rechallenge after immune checkpoint inhibitor (ICI) and anti-angiogenic agent combination therapy. Complete response (CR) to partial response (PR) of central nervous system (CNS) response was achieved immediately after the administration of furmonertinib and osimertinib. We conducted next-generation sequencing (NGS) and IHC to elucidate the evolution of driver mutations and the immune microenvironment. In conclusion, these two cases might provide a therapeutic strategy for further clinical practice. More research was needed to elucidate the resistance mechanisms and improve current treatment strategies in EGFR-mutated patients with LM.
Characterization of a de Novo Constitutional Balanced Translocation t (2;11)(q33.2;q23.2) with Break Point on the Human NBEAL1-GeneHo
Authors: Javad Karimzadhagh, Soraya Salehgargari, Mirdavood Omrani
Journal: Iran J Child Neurol (2018)
Keywords: als, als2-gene, bacs clone, balanced translocation, fish, nbeal1-gene
MeSH terms: Case Reports

Reciprocal balanced translocations associated with clinical features are very rare. This study reports cytogenetic and molecular cytogenetic findings in a 3-yr-old female patient with mild developmental retardation, slight hypotone with a de novo balanced 46, XX, t(2; 11) (q33; q23) translocation. Her parent attended private office at Tehran, Iran in 2013. G-banded chromosomes and FISH-Analysis were used to examine the patient's karyotype as well as her parents. FISH-probes prepared with specific RP11-BAC clones mapped near 2q33 and 11q23 regions were used to characterize the location of the breakpoints. One of the break points is located within the human NBEAL1-Gene locus on chromosome 2, suggesting a correlation between this gene disruption and the patient's mild developmental retardation.
Generalized lymphadenopathy: unusual presentation of prostate adenocarcinoma
Authors: Bulent Cetin, Zeynep Cetin, Suleyman Buyukberber, Ipek Isık Gonul, Ilgin Sahiner, Ugur Coskun, Mustafa Benekli
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Generalized lymphadenopathy is a rare manifestation of metastatic prostate cancer. Here, we report the case of a 59-year-old male patient with supraclavicular, mediastinal, hilar, and retroperitoneal and inguinal lymphadenopathy, which suggested the diagnosis of lymphoma. There were no urinary symptoms. A biopsy of the inguinal lymph node was compatible with adenocarcinoma, whose prostatic origin was shown by immunohistochemical staining with PSA. The origin of the primary tumor was confirmed by directed prostate biopsy. We emphasize that a suspicion of prostate cancer in men with adenocarcinoma of undetermined origin is important for an adequate diagnostic and therapeutic approach.
A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis
Authors: Tamar Lubell, Maria Garzon, Kwame Anyane Yeboa, Bina Shah
Journal: J Clin Res Pediatr Endocrinol (2009)
Keywords: pseudohypoparathyroidism, congenital hypothyroidism, osteoma cutis
MeSH terms: Bone Neoplasms / genetics, Congenital Hypothyroidism / genetics, Osteoma / genetics, Pseudohypoaldosteronism / genetics, Case Reports, Bone Neoplasms / complications, Calcinosis / complications, Calcinosis / genetics, Child, Preschool, Chromogranins, Congenital Hypothyroidism / complications, Frameshift Mutation, GTP-Binding Protein alpha Subunits, Gs / deficiency, GTP-Binding Protein alpha Subunits, Gs / genetics, Humans, Male, Osteoma / complications, Pseudohypoaldosteronism / complications, Chromogranins, GNAS protein, human, GTP-Binding Protein alpha Subunits, Gs

Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.
Delayed clearance of monkeypox virus in a patient with co infection with secondary syphilis
Authors: Almira Opardija, Geetha Sivasubramanian
Journal: IDCases (2023)
Keywords: co-infection, monkeypox, syphilis
MeSH terms: Case Reports

Several studies from the current 2022 monkeypox (MPX) outbreak have documented co-infections with sexually transmitted infections (STIs), such as gonorrhea, chlamydia, and syphilis. We present a patient with MPX and secondary syphilis who failed to clear the MPX virus 30 days after illness onset despite a 14-day course of tecovirimat therapy.
Macrocystic Adult Penile Lymphangioma: A Rare Presentation
Authors: Jaisukh Kalathia, Kaushal Patel, Santosh Agrawal
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Adult penile lymphangioma (APL) is a rare multifactorial vascular malformation. Usually, it is asymptomatic and located on the coronal sulcus or shaft of the penis. It is benign in nature with rare chances of recurrence. APLs can be approached via various modalities from simple "watch and wait" to electrofulguration, laser ablation, and surgical excision. We report a rare variant of lymphangioma of the penis inculcating the shaft being excised surgically with favorable outcome along with brief review of literature.
Case Report: Bionic Reconstruction in an Adult With Obstetric Brachial Plexus Injury
Authors: Anna Boesendorfer, Agnes Sturma, Clemens Gstoettner, Anna Pittermann, Gregor Laengle, Oskar C Aszmann
Journal: Front Rehabil Sci (2022)
Keywords: bionic reconstruction, case report, functional outcome, obstetric brachial plexus injury (obpi), prosthesis, upper limb amputation
MeSH terms: Case Reports

Introduction: Many adults who had a severe Narakas IV obstetric brachial plexus injury (OBPI) suffer from extensive impairments in daily living due to limited hand-arm function. The dramatic loss of axonal support at this very early age of development often render the entire extremity a biologic wasteland and reconstructive methods and therapies often fail to recover any functional hand use. In this scenario bionic reconstruction, including an elective amputation and a subsequent prosthetic fitting, may enable functional improvement in adults suffering from the consequences of such severe brachial plexus injuries. We here describe our experience in treating such patients and lay out the surgical rational and rehabilitation protocol exemplified in one patient. Case Presentation/Methods: A 27-year-old adult with a unilateral OBPI contacted our center. He presented with globally diminished function of the affected upper extremity with minimal hand activity, resulting in an inability to perform various tasks of daily living. No biological reconstructive efforts were available to restore meaningful hand function. An interdisciplinary evaluation, including a psychosocial assessment, was used to assess eligibility for bionic reconstruction. Before the amputation and after the prosthetic fitting functional assessments and self-reported questionnaires were performed. Results: One month after the amputation and de-rotation osteotomy of the humerus the patient was fitted with a myoelectric prosthesis. At the 1.5 year-follow-up assessment, the patient presented with a distinct improvement of function: the ARAT improved from 12 to 20 points, SHAP score improved from 8 to 29, and the DASH value improved from 50 to 11.7. The average wearing times of the prosthesis were 5 to 6 h per day (on 4-5 days a week). Discussion: The options for adults suffering from the consequences of severe OBPIs to improve function are limited. In selected patients in whom the neurological deficit is so severe that biologic hand function is unsatisfactory, an elective amputation and subsequent restoration of the hand with mechatronic means may be an option. The follow-up results indicate that this concept can indeed lead to solid hand function and independence in daily activities after amputation, subsequent prosthetic fitting, and rehabilitation.