OpenMed/multicare-articles huggingface dataset:
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Authors: Mattia Fonderico, Michele Laudisi, Nico Golfrè Andreasi, Stefania Bigoni, Costanza Lamperti, Celeste Panteghini, Barbara Garavaglia, Miryam Carecchio, Elia Antonio Emanuele, Gian L Forni, Enrico Granieri
Journal: Front Neurol (2017)
Keywords: nbia disorders, basal ganglia, beta-propeller protein-associated neurodegeneration, iron, iron-chelating agents
MeSH terms: Case Reports

Here, we report the case of a 36-year-old patient with a diagnosis of de novo mutation of the WDR45 gene, responsible for beta-propeller protein-associated neurodegeneration, a phenotypically distinct, X-linked dominant form of Neurodegeneration with Brain Iron Accumulation. The clinical history is characterized by a relatively stable intellectual disability and a hypo-bradykinetic and hypertonic syndrome with juvenile onset. Genetic investigations and T1 and T2-weighted MR images align with what is described in literature. The patient was also subjected to PET with 18-FDG investigation and DaT-Scan study. In reporting relevant clinical data, we want to emphasize the fact that the patient received a chelation therapy with deferiprone (treatment already used in other forms of NBIA with encouraging results), which, however, had to be interrupted because the parkinsonian symptoms worsened. Conversely, the patient has benefited from non-drug therapies and, in particular, from an adapted motor activity with assisted pedaling (method in the process of validation in treatments of parkinsonian syndromes), which started before the treatment with deferiprone and still continues.
Left Hemibody Swelling in an HIV-Positive Patient with Congenital Heart Disease
Authors: Matteo Boattini, André Almeida, Rita Barata Moura, Miguel Toscano Rico
Journal: Case Rep Vasc Med (2012)
MeSH terms: Case Reports

We report the case of a 50-year-old HIV-positive woman with a congenital cyanotic heart disease who developed left axillary, subclavian, and brachiocephalic vein thrombosis and left lower aortopulmonary collateral arterial thrombosis, presenting as left hemibody swelling. We also briefly overview the literature regarding upper extremity deep vein thrombosis (UEDVT). Given the absence of other risk factors, it was our firm believe that our patient's UEDVT was due to a hypercoagulable state associated with congestive heart failure (CHF) and HIV infection.
Identification of a decedent in a 103-year-old homicide case using forensic anthropology and genetic genealogy
Authors: Amy R Michael, Samantha H Blatt, Mariyam Isa, Anthony Redgrave, Douglas H Ubelaker
Journal: Forensic Sci Res (2022)
Keywords: forensic sciences, forensic anthropology, cold case, forensic genetic genealogy, human identification, investigative genetic genealogy, postmortem interval, skeletal trauma

Anthropologists are often the custodians of long-term unidentified human remains though their positions as curators of university or museum skeletal collections. Various factors decrease the solvability of these legacy cases including the passage of time, the loss of provenience for specific cases, and lack of documentation or case records. While anthropologists can contribute important information toward identification, it is often necessary to explore novel and cross-disciplinary strategies to resolve difficult cold cases. In long cold cases, the postmortem interval, in particular, may be difficult to estimate leading to further challenges in achieving identification. Modern advances in radiocarbon bomb pulse dating, isotope analysis, and actualistic studies have contributed to positive identification of unidentified human remains in some legacy cases, but may not be available to all forensic practitioners and law enforcement from resource-poor agencies. Pooling resources, as well as collaborating with professionals outside of forensic anthropology, is a useful strategy to pursue when anthropological methods are exhausted.The case study presented here demonstrates a collaborative approach between forensic anthropologists, forensic genetic genealogists, and law enforcement in a century-old homicide. The dismembered and mummified parts of a male body were recovered in a remote cave in 1979 and again in 1991. Despite forensic anthropologists creating and updating the biological profile over the decades from recovery to present, no identification was made until the application of forensic genetic genealogy (FGG) to the case in 2019. New interpretations of bone microstructure and trauma analysis are presented for the case, alongside the historical documentation and "proof of life" evidence used by the genealogy team. A review of the FGG methods underscores the challenges in this case (e.g. significant endogamy, multiple aliases used by the victim) and the steps taken toward resolution. Ultimately, a combined anthropology and genealogy approach resulted in a confirmed identity for a man who was murdered in 1916.Key pointsForensic scientists should leverage a collaborative, interdisciplinary approach toward human identification.When combined with forensic anthropology methods, forensic genetic genealogy is a valuable tool linking biological and cultural-historical aspects of identity.Forensic anthropologists should review challenging cases in their labs as new methods are introduced and new resources become available.
Wernicke-Korsakoff syndrome associated with mtDNA disease
Authors: Idris Janos Jimoh, Barbara Sebe, Peter Balicza, Mariann Fedor, Ilona Pataky, Gabor Rudas, Aniko Gal, Gabriella Inczedy-Farkas, Gyorgy Nemeth, Maria Judit Molnar
Journal: Ther Adv Neurol Disord (2020)
Keywords: melas, oxphos, wernicke encephalopathy, ataxia, cariprazine, encephalopathy, memory impairment, mitochondrial disease, schizophrenia
MeSH terms: Case Reports

Introduction:
Wernicke encephalopathy (WE) and Wernicke-Korsakoff syndrome (WKS) are well-known disorders caused by thiamine deficiency. In addition to the classical concept of these diseases, some literature data suggest a connection between mitochondrial dysfunction and WE/WKS. Psychotic disorders and WKS seem to run in families, as the deficiency of the oxidative phosphorylation can be a trigger factor in psychotic events and WE/WKS as well. We present a patient harbouring the m.A3243G mtDNA mutation with the clinical and magnetic resonance imaging (MRI) findings of WKS who developed schizophrenia with predominantly negative symptoms some years later.
Case presentation:
A 27-year-old woman was referred to our clinic with severe weight loss after severe vomiting episodes, memory dysfunction and gait ataxia. Family history, as well as clinical, imaging and laboratory findings suggested a mitochondrial aetiology of her symptoms. Brain MRI detected bilateral mild thalamic lesions and loss of corpus mammillae, indicating Wernicke encephalopathy. Genetic testing detected an m.A3243G mtDNA mutation, which has been frequently associated with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. High-dose vitamin B1 supplementation with supportive antioxidant therapy improved the patient's memory and learning disturbance; however, some months later she developed psychosis with predominantly negative symptoms and her cognitive functions deteriorated again. Both cognitive and negative symptoms responded well to cariprazine monotherapy.
Discussion:
Mitochondrial disease due to mtDNA alteration can be a rare cause of WE. In addition to vitamin B1 supplementation, cariprazine with significant dopamine D3 receptor binding can be useful to treat the predominantly negative symptoms and cognitive dysfunction in patients with mitochondrial dysfunction.
Conclusion:
We assume that patients with a mitochondrial disorder might be prone to develop WE/WKS and therefore need tailored supportive therapy during metabolic crisis as well as symptom-based personalized antipsychotic treatment.
Cervical Myelopathy Caused by Engorged Epidural Cervical Plexus Associated with Iatrogenic Intracranial Hypotension
Authors: Bjorn Valgaeren, Elyn Van Snick, Geert Heirwegh
Journal: J Belg Soc Radiol (2022)
Keywords: arachnoid cyst, brain mri, cervical spine mri, epidural venous plexus, iatrogenic overdrainage, intracranial hypotension, myelopathy, spinal cord compression
MeSH terms: Case Reports

Teaching Point: Iatrogenic overdrainage of cerebrospinal fluid may cause intracranial hypotension with secondary engorgement of the epidural venous plexus, resulting in potentially reversible compression radiculopathy or myelopathy.
A Rare Case of Takotsubo Syndrome and Acute Coronary Syndrome of the Right Coronary Artery
Authors: Nicholas Mencer, Larry Todd Justice, William Black, Kayleigh Litton
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Takotsubo syndrome (TTS) is an increasingly recognized heart disease that was initially regarded as a benign condition, but since has proven to cause irreversible myocardial damage, resembling that of acute coronary syndrome (ACS). The etiology of TTS is still uncertain but may be associated with catecholamine elevations during times of emotional or physical stress. Catecholamines are also understood to have prothrombotic properties, which could lead to ACS. With these similarities, differentiating these two pathologies can be difficult, especially when TTS and ACS occur simultaneously.
Accidental Intralenticular Injection of Ozurdex® for Branch Retinal Vein Occlusion: Intact Posterior Capsule and Resolution of Macular Edema
Authors: Ali Kurt, Ali Hakan Durukan, Murat Küçükevcilioğlu
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Purpose:
We present a case of accidental intralenticular injection of Ozurdex implant in a patient with macular edema secondary to branch retinal vein occlusion.
Method:
A case report.
Results:
Intravitreal dexamethasone implant injection had been performed for macular edema due to left superior temporal vein branch occlusion to the left eye of a 78-year-old male patient. The slit-lamp examination 85 days later revealed that the dexamethasone implant was intralenticular. The best-corrected visual acuity (BCVA) was 0.16 on the Snellen chart. Cataract surgery was decided on for the cataract as there was no anterior chamber inflammation, the intraocular pressure (IOP) was normal, and the macular edema had resolved. Uneventful phacoemulsification within the bag intraocular lens placement was performed.
Conclusions:
Accidental intralenticular Ozurdex injection is an extremely rare complication. The surgeon must decide whether to continue to observe or intervene immediately when such a complication is encountered. Cataract surgery can be planned if the macular edema has resolved and a cataract has developed. It is important to evaluate the posterior capsule with ultrasound biomicroscopy and Scheimpflug imaging before the cataract surgery to ensure a safe surgical procedure.
Efficacy of erlotinib in NSCLC harboring rare EGFR extracellular domain mutation (T263P) and common mutations: Case report and literature review
Authors: Qian Wang, Yong Wang, Xinwei Zhang, Chen Fang, Xiaoying Qian, Yong Li
Journal: Front Oncol (2022)
Keywords: egfr extracellular domain mutations, adenocarcinoma of the lung, erlotinib (eltn), exon 7 t263p mutation, tyrosine kinase inhibitors
MeSH terms: Case Reports

The epidermal growth factor receptor (EGFR) typically contains an extracellular domain (ECD), a transmembrane (TM) domain, and an intracellular kinase (KD) domain. ECD mutations of EGFR in NSCLC may affect its normal function and intrinsic resistance to tyrosine kinase inhibitors (TKIs) and the effectiveness of drugs for these patients is unsatisfactory. Recently, we found an EGFR T263P mutation located at the ECD, which has never been reported in Chinese non-small cell lung cancer (NSCLC). Hence, we reported that a patient with advanced lung adenocarcinoma harboring the EGFR T263P mutation, L858R mutation and MET amplification was resistant to osimertinib but significantly benefited from erlotinib and capmatinib treatment. This patient achieved a partial response and had progression-free survival (PFS) for more than 19 months. In summary, we are the first researchers to report in detail on a Chinese patient carrying the T263P mutation and summarize all the ECD mutations in NSCLC. We believe this finding will enlighten us to treat patients with EGFR ECD mutations and more patients deserve further study.
Case Report: Nintedaninb May Accelerate Lung Recovery in Critical Coronavirus Disease 2019
Authors: Cecilia Bussolari, Diego Palumbo, Evgeni Fominsky, Pasquale Nardelli, Rebecca De Lorenzo, Giordano Vitali, Francesco De Cobelli, Patrizia Rovere-Querini, Anna Mara Scandroglio
Journal: Front Med (Lausanne) (2021)
Keywords: coronavirus disease (covid-19), antifibrotic therapy, lung inflammation, lung recovery, respiratory dysfunction, severe acute respiratory syndrome coronavirus 2 (sars-cov-2)
MeSH terms: Case Reports

Severe Coronavirus disease 2019 (COVID-19) is characterized by acute respiratory distress syndrome (ARDS) which may lead to long-lasting pulmonary sequelae in the survivors. COVID-19 shares common molecular signatures with interstitial lung diseases (ILDs), including pro-angiogenic and tissue-remodeling mechanisms mediated by vascular endothelial growth factor receptor (VEGF-R), fibroblast growth factor receptor (FGF-R), and platelet-derived growth factor receptor (PDGF-R). Nintedanib mainly targets these factors and is approved for ILDs. Therefore, we administered nintedanib through compassionate use to three patients with COVID-19 pneumonia requiring extra-corporeal membrane-oxygenation (ECMO). Here, we describe our experience in an attempt to explore the role of nintedanib in lung recovery in COVID-19. Three obese patients aged between 42 and 52 years were started on nintedanib due to difficulty in obtaining lung function restoration and weaning from ECMO support following the removal of orotracheal intubation (OTI). Soon after the start of the treatment, systemic inflammation and respiratory function rapidly improved and ECMO support was withdrawn. Serial chest CT scans confirmed the progressive lung amelioration, also reflected by functional tests during follow-up. Nintedanib was well-tolerated by all the three patients at the dosage used for ILDs and continued for 2-3 months based on drug availability. Although caution in interpreting events is required; it is tempting to speculate that nintedanib may have contributed to modulate lung inflammation and remodeling and to sustain lung repair. Altogether, nintedanib appears as a promising agent in patients with severe COVID-19 and delayed respiratory function recovery, for whom molecularly targeted therapies are still lacking. Clinical trials are necessary to confirm our observations.
Advanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome
Authors: Artemios G Karagiannidis, Maria-Eleni Alexandrou, George Lioulios, Maria Stangou, Pantelis A Sarafidis, Aikaterini Papagianni
Journal: Clin Nephrol Case Stud (2023)
Keywords: gitelman syndrome, hypokalemia, hypokalemic nephropathy
MeSH terms: Case Reports

We report a case of a 58-year-old woman presenting with symptoms of oliguria, fatigue, anorexia, constipation, hypovolemic signs, and laboratory tests showing severe hypokalemia (1.7 mEq/L), hyponatremia (120 mEq/L), high serum creatinine (SCr, 6.46 mg/dL) and urea (352 mg/dL). The patient had previously been diagnosed with chronic kidney disease (CKD), with SCr up to 2.58 mg/dL 1 year prior, and had in all her previous laboratory tests shown hypokalemia, which was treated with conservative measures and eplerenone despite low-normal blood pressure and normal heart function. A set of coordinated measures were applied to restore the potassium deficit, revert hypovolemic hyponatremia, and support renal function (including 4 dialysis sessions). In addition, a careful diagnostic approach revealed inappropriately high urine sodium and potassium losses, hypocalciuria, and hyperreninemic hyperaldosteronism leading to the diagnosis of Gitelman syndrome and hypokalemia-associated chronic tubulointerstitial nephropathy. Importantly, compliance with a simple set of instructions on high potassium and liberal sodium diet enabled the patient not only to remain euvolemic, free of symptoms, and with normal electrolytes, but also to recover a significant part of renal function and stabilize at an earlier CKD stage. Gitelman syndrome is a rare disorder that can be easily diagnosed and treated following simple measures; its early diagnosis is necessary to avoid life-threatening complications.
Intestinal Necrosis due to Giant Ovarian Cyst: A Case Report
Authors: Ali Duran, Fulay Yilmaz Duran, Fevzi Cengiz, Ozgur Duran
Journal: Case Rep Surg (2013)

Intestinal pathologies due to ovarian cyst are observed rarely. Although a limited number of cases in neonatal and adolescent periods have been observed, no adult case has been reported in the literature. Two mechanisms are involved in intestinal complications due to ovarian cysts: torsion due to adhesion or compression of giant ovarian mass with a diameter of 9-10 cm. We report here a terminal ileum necrosis case due to compression by an ovarian cyst with 11 × 10 × 7 cm size in an 81-year-old woman.
Angiofibroma Originating outside the Nasopharynx: A Management Dilemma
Authors: Ashraf Nabeel Mahmood, Rashid Sheikh, Hamad Al Saey, Sarah Ashkanani, Shanmugam Ganesan
Journal: Case Rep Otolaryngol (2016)

Background. Angiofibroma is a benign tumor, consisting of fibrous tissue with varying degrees of vascularity, characterized by proliferation of stellate and spindle cells around the blood vessels. It most commonly arises from the nasopharynx, although it may rarely arise in extranasopharyngeal sites. Case Report. A 46-year-old male presented with left side nasal obstruction and epistaxis for one month. Clinical nasal examination revealed left sided polypoidal mass arising from the vestibular region of the lateral nasal wall. Results. CT scan and MRI showed highly vascular soft tissue mass occupying the anterior part of the left nostril. Preoperative selective embolization followed by transnasal excision was performed. Histopathological examination confirmed the diagnoses of nasal vestibular angiofibroma. Conclusion. Extranasopharyngeal angiofibroma is a very rare pathology. It should be kept in mind as a differential diagnosis with any unilateral nasal vestibular mass causing nasal obstruction and epistaxis. A biopsy without further investigation can cause life threatening bleeding in the patient.
Ameloblastic fibrosarcoma of the mandible: a case report and brief review of the literature
Authors: Abelardo Loya-Solis, Karla Judith González-Colunga, Cynthia M Pérez-Rodríguez, Natalie Sofía Ramírez-Ochoa, Luis Ceceñas-Falcón, Oralia Barboza-Quintana
Journal: Case Rep Pathol (2015)

Ameloblastic fibrosarcoma is an uncommon odontogenic tumor composed of a benign epithelial component and a malignant ectomesenchymal component most frequently seen in the third and fourth decades of life. It mainly presents as a painful maxillary or mandibular swelling. Radiographs show a radiolucent mass with ill-defined borders. Radical surgical excision and long-term follow-up are the suggested treatment. We report the case of a 22-year-old female with a 2-month history of an asymptomatic swelling in her left mandible. Examination revealed an exophytic growth measuring 3 × 3 cm extending from the mandibular left first premolar to the second molar. The patient underwent a left hemimandibular resection. Histopathological examination revealed a biphasic tumor composed of inconspicuous islands of benign odontogenic epithelium and an abundant malignant mesenchymal component with marked cellularity, nuclear pleomorphism, hyperchromatism, and moderate mitotic figures with clear margins; one year after the surgical procedure, the patient is clinically and radiologically disease-free.
Anorectal gastrointestinal stromal tumor: a case report and literature review
Authors: Sanjeev Singhal, Anu Singhal, Rahul Tugnait, Vineet Varghese, Bishwanath Tiwari, Pankaj K Arora, Pawan Malik, Mriganka Deuri Bharali, Ankur Subhash Dhuria, Pushkar Chauhan, Chandrakant Singh, Amit Ballani, Vishnu Panwar
Journal: Case Rep Gastrointest Med (2013)

Gastrointestinal stromal tumors or "GIST" are mesenchymal neoplasms expressing KIT(CD117) tyrosine kinase and showing the presence of activating mutations in KIT or PDGFR α (platelet-derived growth factor alpha). GIST of anal canal is an extremely rare tumor, accounting for only 3% of all anorectal mesenchymal tumors and 0.1-0.4% of all GIST. GIST with large tumor size and high mitotic activity are highly malignant, but the biological behavior of anorectal GIST is less clear. Abdominoperineal resection (APR) or conservative surgery is the best treatment option. Imatinib mesylate, a tyrosine kinase inhibitor, has shown promising results in its management. We present a case of anorectal GIST diagnosed by computed tomography (CT) scan, magnetic resonance imaging (MRI), and colonoscopy with biopsy. The patient underwent abdominoperineal resection (APR) and was confirmed on histopathology to have anal canal GIST with tumor size more than 5 cm in maximum dimension and mitotic figures more than 5/50 high power field (HPF). The CD117-immunoreactive score-was 3+ in spindled cells. Therefore the patient was put on adjuvant imatinib mesylate 400 mg daily.
Deep Venous Thrombosis and Bilateral Pulmonary Embolism Revealing Silent Celiac Disease: Case Report and Review of the Literature
Authors: Igor Dumic, Scott Martin, Nadim Salfiti, Robert Watson, Tamara Alempijevic
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Celiac disease (CD) is a systemic, chronic autoimmune disease that occurs in genetically predisposed individuals following dietary gluten exposure. CD can present with a wide range of gastrointestinal and extraintestinal manifestations and requires lifelong adherence to a gluten-free diet [GFD]. Venous thromboembolism (VTE) as a presentation of celiac disease is unusual and rarely reported. We present a case of a 46-year-old man who was admitted for shortness of breath and pleuritic chest pain and was found to have iron deficiency anemia, deep venous thrombosis, and bilateral pulmonary emboli (PE). After work-up for his anemia, the patient was diagnosed with CD. Comprehensive investigation for inherited or acquired prothrombotic disorders was negative. It is becoming increasingly recognized that CD is associated with an increased risk for VTE. PE, however, as a presentation of CD is exceedingly rare and to the best of our knowledge this is the third case report of such an occurrence and the only case report of a patient from North America. It is important to recognize that the first symptoms or signs of celiac disease might be extraintestinal. Furthermore, VTE as a presentation of CD is rare but life-threatening.