OpenMed/multicare-articles huggingface dataset:
Atypical Fragility Fractures due to Bony or Soft Tissue Phosphaturic Mesenchymal Tumors: A Report of Two Cases
Authors: Stephanie M Clegg, Emily S Eiel, Sara Fine, Rachel I Gafni, Mathew J Most
Journal: Case Rep Orthop (2023)
MeSH terms: Case Reports

Introduction:
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic disorder where patients present with hypophosphatemia, chronic diffuse bone pain, and occasionally fractures. Benign phosphaturic mesenchymal tumors (PMT) are responsible for the TIO and are largely soft tissue tumors.
Cases:
Two male patients with TIO secondary to PMT were reported-one in the bony scapula and the other in the plantar foot soft tissue. The first case describes a 63-year-old Caucasian male, who sustained an intertrochanteric proximal femur stress fracture and approximately two years of diffuse bone pain and hypophosphatemia. Wide excision of a left scapula boney lesion resulted in immediate resolution of his electrolyte abnormalities and bone pain. Case 2 describes a 58-year-old male with four years of multifocal bone pain and atraumatic fractures. A 68Ga-DOTATATE-positron emission tomography/computed tomography (PET/CT) scan identified a soft tissue tumor in his plantar foot, which was ultimately excised. He also experienced near immediate resolution of his pain and no additional fractures.
Conclusion:
TIO is a rare condition presenting with chronic multifocal bone pain, stress fractures, and hypophosphatemia. These two cases highlight that the causative tumor may originate in soft tissue or bone. Furthermore, a high index of suspicion, along with fibroblast growth factor-23 testing and DOTATATE-PET/CT localization, can help with diagnosis and minimize treatment delays.
Partial Pericardial Agenesis
Authors: Akila Bersali, Faisal Nabi
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: cardiac mri, congenital absence of pericardium
MeSH terms: Magnetic Resonance Imaging, Pericardium / abnormalities, Pericardium / diagnostic imaging, Case Reports, Female, Humans, Male, Middle Aged

Congenital absence of the pericardium is a rare anomaly, affecting the left pericardium (86%) more than the right, with male predilection distribution (3:1). In the majority of cases, the condition is asymptomatic. We describe a case of a 55-year-old female with a history of chronic hypercapnic respiratory failure secondary to restrictive lung disease who was referred to cardiovascular magnetic resonance (CMR) lab for shunt evaluation based on right ventricular pressure overload and paradoxical septal motion.
Prolonged neuromuscular block in a preeclamptic patient induced by magnesium sulfate
Authors: Mohamed Adnane Berdai, Smael Labib, Mustapha Harandou
Journal: Pan Afr Med J (2016)
Keywords: magnesium sulfate, neuromuscular block, non depolarizing relaxants, pregnancy
MeSH terms: Magnesium Sulfate / administration & dosage, Neostigmine / administration & dosage, Neuromuscular Blockade / methods, Case Reports, Adult, Anesthesia, General / methods, Cesarean Section / methods, Female, HELLP Syndrome / physiopathology, Humans, Magnesium Sulfate / adverse effects, Nicardipine / therapeutic use, Pre-Eclampsia / physiopathology, Pregnancy, Neostigmine, Magnesium Sulfate, Nicardipine

Recent large use of magnesium in the obstetric population should incite anesthesiologists to control its side effects and drugs interactions. We report a case of a 30-year-old woman, with severe preeclampsia and HELLP syndrome, receiving sulfate magnesium and nicardipine, who underwent a cesarean section under general anesthesia. She developed a prolonged and deep neuromuscular blockade, which was antagonized three hours later with neostigmine. In case of therapeutic hypermagnesaemia, non-depolarizing relaxants must be used in reduced doses, and at increased time intervals, with appropriate neuromuscular monitoring.
Adamantinoma-Like Ewing's Family Tumor of the Sino Nasal Region: A Case Report and a Brief Review of Literature
Authors: Pushpa Mahadevan, Subramaniam Ramkumar, V P Gangadharan
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Ewing's sarcoma family of tumors (EFTs) are malignant mesenchymal tumors with a predilection for bone and soft tissue. They are characterized by their monomorphic small blue round cell morphology. However rare morphologic variants of EFTs can also show overt epithelial differentiation in the form of squamoid differentiation along with strong cytokeratin expression. This particular subset of EFTs are known as adamantinoma-like EFTs which can be difficult to differentiate from epithelial head and neck malignancies. Here we report a case of sinonasal adamantinoma-like EFT in an 18-year-old male patient. The lesion differed from a typical EFT by means of overt squamoid differentiation which showed a basaloid appearance with peripheral palisading. The immunohistochemistry was positive for pan-cytokeratin, p40, p63, ERG, FLI1, and CK5/6. It was negative for actin, desmin, and WT-1. Initial diagnosis of a basaloid squamous cell carcinoma was made. Further molecular studies were also done due to the complex presentation of the tumor. EWSR testing with break-apart analysis confirmed EWSR1 and FLI1 rearrangements. Further confirmation was done with RT-PCR. The case was found to be positive for EWS-FLI-1 translocation. The revised immunohistochemistry panel showed CD99, ERG, FLI1, and synaptophysin positivity. The lesion was reclassified as an adamantinoma-like ES. Our case reinforces the fact that a subset of EFTs can show histomorphologic and immunohistochemical features of aberrant epithelial differentiation. These cases are difficult to differentiate from usual epithelial malignancies which occur in this region. This diagnostic pitfall can be avoided by the inclusion of CD99 and/or FLI1 in the immunohistochemical assessment of any round cell malignancy at any anatomic location. A strong and diffuse CD99 positivity should prompt molecular testing for the presence of EWSR1 gene rearrangements.
Acute Cardiac Failure in a Pregnant Woman due to Thyrotoxic Crisis
Authors: Nao Okuda, Mutsuo Onodera, Yumiko Tsunano, Emiko Nakataki, Jun Oto, Hideaki Imanaka, Masaji Nishimura
Journal: Case Rep Cardiol (2012)

Introduction. Cardiac failure during pregnancy is usually related to preeclampsia/eclampsia, rarely to hyperthyroidism. While hyperthyroidism can easily lead to hypertensive cardiac failure and may harm the fetus, it is sometimes difficult to distinguish hyperthyroidism from normal pregnancy. Case Presentation. We encountered a case of 41-year-old pregnant woman with hypertensive cardiac failure. Because we initially diagnosed as pre-eclampsia/eclampsia, Caesarian section was performed. However, her symptoms still persisted after delivery. After thyroid function test results taken on the day of admission were obtained on the fourth day, we could diagnose that her cardiac failure was caused by thyrotoxic crisis. Conclusions. Hypertensive cardiac failure due to hyperthyroidism during pregnancy is rare and difficult to diagnose because of similar presentation of normal pregnancy. However, physicians should be aware of the risks posed by hyperthyroidism during pregnancy.
Primary meningeal rhabdomyosarcoma
Authors: Manisha Palta, Richard F Riedel, James J Vredenburgh, Thomas J Cummings, Scott Green, Zheng Chang, John P Kirkpatrick
Journal: Sarcoma (2011)
MeSH terms: Case Reports

Primary meningeal rhabdomyosarcoma is a rare primary brain malignancy, with scant case reports. While most reports of primary intracranial rhabdomyosarcoma occur in pediatric patients, a handful of cases in adult patients have been reported in the medical literature. We report the case of a 44-year-old male who developed primary meningeal rhabdomyosarcoma. After developing episodes of right lower extremity weakness, word finding difficulty, and headaches, a brain magnetic resonance imaging (MRI) demonstrated a vertex lesion with radiographic appearance of a meningeal-derived tumor. Subtotal surgical resection was performed due to sagittal sinus invasion and initial pathology was interpreted as an anaplastic meningioma. Re-review of pathology demonstrated rhabdomyosarcoma negative for alveolar translocation t(2;13). Staging studies revealed no evidence of disseminated disease. He was treated with stereotactic radiotherapy with concurrent temozolamide to be followed by vincristine, actinomycin-D, and cyclophosphamide (VAC) systemic therapy.
Re-visiting the embryogenesis of the human lower lip: an overlooked paradigm
Authors: Heleni Vastardis, Meropi N Spyropoulos, Alphonse R Burdi
Journal: Front Physiol (2012)
Keywords: pena–shokeir syndrome, bilateral clefts, embryogenesis, human, lower lip, mandible

The rare opportunity to study a human fetus showing bilateral clefting of the lower lip along with other associated anomalies resembling those of the equally rare Pena-Shokeir phenotype prompts this report. The scarcity of reports on bilateral clefts of the lower lip has strengthened the conventional understanding or, perhaps even dogma that the lower lip and jaw develop from the progressive midline merging of just two mandibular prominences in the embryo. On the basis of observations stemming from this case report, it is proposed that yet another developmental event or process (in addition to the midline merging of the mandibular prominences) may be operable in the normal morphogenesis of the lower lip and anterior mandibular region. The bilateral paramedian clefting observed provides evidence that another distinct developmental region, a small medial process complements mandibular morphogenesis.
Cephalometric approach to the occlusal vertical dimension reestablishment
Authors: João César Zielak, David Gulin Neto, Leonardo Fernandes da Cunha, Tatiana Miranda Deliberador, Allan Fernando Giovanini
Journal: Case Rep Dent (2014)

The occlusal vertical dimension (OVD) refers to the length of the face as determined by the amount of separation of the jaws. Its determination is important for the manufacture of restorations. However, defining the correct occlusal vertical dimension for edentulous patients is one of the most important steps for function and esthetics rehabilitation. Cephalometry is a standardized method of assessing dental and facial proportions and their interrelation. Additionally, cephalometric analysis of the facial vertical dimension can establish an individual pattern for each patient. This analysis should become a permanent part of each patient's record. Hence, this study presented a case report with the use of cephalometry as an auxiliary tool in the rehabilitation of OVD. Clinical relevance showed that cephalometric analysis can be an accurate and convenient instrument to treatment planning and prognostic of oral rehabilitation. The reader should understand the clinical implications of using cephalometry as a tool in the rehabilitation of OVD.
Pleuroperitoneal Leak as an Uncommon Cause of Pleural Effusion in Peritoneal Dialysis: A Case Report and Literature Review
Authors: Minh Huan Dang, Mathew Mathew, Rajesh Raj
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Pleural effusions are frequently seen in patients on dialysis. A pleuroperitoneal leak or communication is a rare but important cause of pleural effusion in patients on peritoneal dialysis. This diagnosis can be made with a combination of biochemical tests and radiological modalities, in the absence of a gold standard diagnostic test. In addition to thoracocentesis, treatment often involves cessation of peritoneal dialysis and transition to hemodialysis. We describe a case of an 80-year-old man who presented with unilateral right-sided pleural effusion. He underwent therapeutic thoracocentesis and was subsequently diagnosed with a pleuroperitoneal leak through pleural fluid analysis. Peritoneal dialysis was ceased, and he transitioned temporarily to hemodialysis. He was subsequently treated with talc pleurodesis and successfully recommenced on peritoneal dialysis at six weeks after operation. In our report, we also review diagnostic imaging modalities, as well as advantages and disadvantages of each modality. A pleuroperitoneal leak is a rare but important complication of peritoneal dialysis and needs consideration in any patient on peritoneal dialysis presenting with unilateral pleural effusion.
Successful elimination of premature ventricular contractions by ablation of origin and preferential pathway
Authors: Kyoichiro Yazaki, Kenji Enta, Masahiro Watarai, Mitsuru Kahata, Asako Kumagai, Koji Inoue, Hiroshi Koganei, Masato Otsuka, Yasuhiro Ishii
Journal: Clin Case Rep (2017)
Keywords: catheter ablation, preferential pathway, premature ventricular contraction, prepotential, stimulus–qrs latency
MeSH terms: Case Reports

However, the common strategy for eliminating premature ventricular contractions (PVCs) is to explore the exit site and ablate, which may be difficult in some cases. The origin and the preferential pathway, an insulated pathway connected to the exit, may also become targets for eliminating PVCs.
Integration of Multiple Genomic and Phenotype Data to Infer Novel miRNA-Disease Associations
Authors: Hongbo Shi, Guangde Zhang, Meng Zhou, Liang Cheng, Haixiu Yang, Jing Wang, Jie Sun, Zhenzhen Wang
Journal: PLoS One (2016)
MeSH terms: Genetic Predisposition to Disease, MicroRNAs / genetics, Research Support, Non-U.S. Gov't, Algorithms, Computational Biology / methods, Gene Ontology, Gene Regulatory Networks, Genome, Human, Humans, Models, Genetic, Phenotype, Protein Interaction Maps / genetics, ROC Curve, Random Allocation, Reproducibility of Results, MicroRNAs

MicroRNAs (miRNAs) play an important role in the development and progression of human diseases. The identification of disease-associated miRNAs will be helpful for understanding the molecular mechanisms of diseases at the post-transcriptional level. Based on different types of genomic data sources, computational methods for miRNA-disease association prediction have been proposed. However, individual source of genomic data tends to be incomplete and noisy; therefore, the integration of various types of genomic data for inferring reliable miRNA-disease associations is urgently needed. In this study, we present a computational framework, CHNmiRD, for identifying miRNA-disease associations by integrating multiple genomic and phenotype data, including protein-protein interaction data, gene ontology data, experimentally verified miRNA-target relationships, disease phenotype information and known miRNA-disease connections. The performance of CHNmiRD was evaluated by experimentally verified miRNA-disease associations, which achieved an area under the ROC curve (AUC) of 0.834 for 5-fold cross-validation. In particular, CHNmiRD displayed excellent performance for diseases without any known related miRNAs. The results of case studies for three human diseases (glioblastoma, myocardial infarction and type 1 diabetes) showed that all of the top 10 ranked miRNAs having no known associations with these three diseases in existing miRNA-disease databases were directly or indirectly confirmed by our latest literature mining. All these results demonstrated the reliability and efficiency of CHNmiRD, and it is anticipated that CHNmiRD will serve as a powerful bioinformatics method for mining novel disease-related miRNAs and providing a new perspective into molecular mechanisms underlying human diseases at the post-transcriptional level. CHNmiRD is freely available at http://www.bio-bigdata.com/CHNmiRD.
Unilateral Pulmonary Agenesis about a Case Revealed by an Acute Respiratory Infection in a Young Infant
Authors: S Aimée Kissou, Souleymane B W Adjaba, Jacqueline Tamini, Hélène Traore
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Pulmonary agenesis is a rare congenital anomaly of unknown cause, consisting of a complete absence of the lung parenchyma, bronchi, and vascularization. It may or not be associated with other malformations. The authors report a case of right pulmonary agenesis diagnosed in a four-month-old infant who had no previous pathological history and was growing well. The circumstance of discovery was respiratory distress during an infectious episode. The diagnosis was suspected on a standard chest X-ray and confirmed on a chest CT scan. There are no other associated defects. The evolution was good after antibiotic therapy. While bilateral pulmonary agenesis is incompatible with life, the unilateral form may remain unrecognized until adulthood. The prognosis depends mainly on the importance of the associated malformations.
Ticagrelor-Induced Angioedema: A Rare and Unexpected Phenomenon
Authors: Rajeev Seecheran, Valmiki Seecheran, Sangeeta Persad, Sasha Lalla, Naveen Anand Seecheran
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Angioedema can cause potentially life-threatening airway obstruction. This case report describes an exceedingly rare episode of ticagrelor-induced hypersensitivity reaction, manifesting as angioedema with periorbital and likely respiratory involvement. The heart team should be vigilant for this precarious condition which may require emergent airway management. Desensitization protocols and alternative regimens (e.g., clopidogrel, prasugrel, and addition of an adjunctive anticoagulant) should be considered when there is an absolute indication for antiplatelet therapy.
One Pulmonary Lesion, 2 Synchronous Malignancies
Authors: Masooma Aqeel, Nevin Uysal-Biggs, Timothy S Fenske, Nagarjun Rao
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: cavitary nodule, collision histology, lung cancer, mantle cell lymphoma, non-hodgkin’s lymphoma

Introduction. Mantle cell lymphoma (MCL) comprises approximately 3% to 10% of all non-Hodgkin lymphomas. Although there is an increased risk for secondary malignancies after treatment among non-Hodgkin lymphomas survivors, a synchronous diagnosis of primary lung cancer arising in conjunction with lymphoma at the same site has rarely been reported. We report an unusual case of primary lung adenocarcinoma with coexistent MCL within the same lung lesion. Case Presentation. A 55-year-old female with newly diagnosed stage IV-B MCL was referred for workup of a right upper lobe cavitary lesion detected during lymphoma staging. A whole-body positron-emission tomography-computed tomography scan revealed diffuse adenopathy but also identified a cavitary right upper lobe lesion atypical for lymphoma. Bronchoscopy was unremarkable with cytology (on lavage) negative for malignancy. At 2 months, a computed tomography scan of the chest showed a persistent lesion. A video-assisted thoracoscopic wedge resection was performed. Histopathological examination revealed a lepidic predominant, well-differentiated adenocarcinoma (stage T1a) and foci of lymphoid infiltrate within and adjacent to the adenocarcinoma consistent with lung involvement by MCL. Discussion. Synchronous presentation of primary lung adenocarcinoma and lymphoma at a single site is exceedingly rare. Nonresolving pulmonary lesions with features atypical for lymphoma should be viewed with caution and worked up comprehensively to rule out occult second malignancies, in order to guide a prompt diagnosis and appropriate treatment.
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome
Authors: Nihit Kumar, Yuri A Zarate
Journal: Case Rep Genet (2020)
MeSH terms: Case Reports

SATB2-associated syndrome is an autosomal dominant, multisystemic disorder with associated sleep and behavioral abnormalities. Evidence is limited on appropriate management strategies in this population. We describe the medical management of a four-year-old child with poor sleep and significant behavioral problems. After failing initial treatment with melatonin, we initiated treatment clonidine along with high doses of trazodone for sleep. Daytime treatment with quetiapine was added to successfully manage behavioral issues. We present the challenges associated with treatment strategies in children with this syndrome.
Hemorrhagic Bullous Henoch-Schönlein Purpura: Case Report and Review of the Literature
Authors: Matthias Nothhaft, Joerg Klepper, Hermann Kneitz, Thomas Meyer, Henning Hamm, Henner Morbach
Journal: Front Pediatr (2019)
Keywords: bullae, children, hemorrhagic, henoch-schönlein purpura, vasculitis
MeSH terms: Case Reports

Henoch-Schönlein Purpura (HSP) or IgA vasculitis is the most common systemic vasculitis of childhood and may affect skin, joints, gastrointestinal tract, and kidneys. Skin manifestations of HSP are characteristic and include a non-thrombocytopenic palpable purpura of the lower extremities and buttocks. Rarely, HSP may initially present as or evolve into hemorrhagic vesicles and bullae. We present an otherwise healthy 5-year-old boy with an acute papulovesicular rash of both legs and intermittent abdominal pain. After a few days the skin lesions rapidly evolved into palpable purpura and hemorrhagic bullous lesions of variable size and severe hemorrhagic HSP was suspected. A histological examination of a skin biopsy showed signs of a small vessel leukocytoclastic vasculitis limited to the upper dermis and direct immunofluorescence analysis revealed IgA deposits in vessel walls, compatible with HSP. To further characterize the clinical picture and treatment options of bullous HSP we performed an extensive literature research and identified 41 additional pediatric patients with bullous HSP. Two thirds of the reported patients were treated with systemic corticosteroids, however, up to 25% of the reported patients developed skin sequelae such as hyperpigmentation and/or scarring. The early use of systemic corticosteroids has been discussed controversially and suggested in some case series to be beneficial by reducing the extent of lesions and minimizing sequelae of disease. Our patient was treated with systemic corticosteroids tapered over 5 weeks. Fading of inflammation resulted in healing of most erosions, however, a deep necrosis developing from a large blister at the dorsum of the right foot persisted so that autologous skin transplantation was performed. Re-examination 11 months after disease onset showed complete clinical remission with re-epithelialization but also scarring of some affected areas.
CMV Encephalitis/Radiculitis: The Difficulty in Diagnosing in an Intubated Patient
Authors: Geoffrey Newcomb, Peter Mariuz, Daniel Lachant
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Cytomegalovirus (CMV) can cause severe disease including colitis, pneumonitis, and less commonly encephalitis, in profoundly immunocompromised individuals. CNS imaging findings are nonspecific and diagnosis is made by identifying CMV in cerebral spinal fluid through PCR testing or cell culture. Early initiation of antiviral therapy is key with an overall poor outcome. Here we present a patient with newly diagnosed AIDS and pneumocystis jiroveci pneumonia who was febrile and remained encephalopathic for the first 6 weeks of his admission despite treatment and extensive work up for encephalopathy. Ultimately, he was diagnosed with CMV encephalitis and radiculitis and failed to improve significantly. This case is important because of multiple points (1) the uncommon presentation of CMV encephalitis/radiculitis occurring over 1 month into a hospitalization; (2) in the era of highly active antiretroviral therapy (HAART) severe complications of AIDS are rarely seen by newer generations of physicians and are not typically thought of; (3) the difficulties in evaluating altered mental status and weakness in an intubated patient receiving sedation. In immunosuppressed patients on mechanical ventilation, early evaluation with LP should be considered when altered mental status and fever of unclear etiology are present.