OpenMed/multicare-articles huggingface dataset:
Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
Authors: Dominique Endres, Simon J Maier, Christiane Ziegler, Kathrin Nickel, Anne N Riering, Benjamin Berger, Johann Lambeck, Miriam Fritz, Birgitta Gläser, Friedrich Stock, Michael Dacko, Thomas Lange, Irina Mader, Katharina Domschke, Ludger Tebartz van Elst
Journal: Front Psychiatry (2019)
Keywords: pmp22, hereditary neuropathy with liability to pressure palsy, hereditary polyneuropathy, psychosis, schizophrenia
MeSH terms: Case Reports

Background: Schizophrenic disorders are common and debilitating due to their symptoms, which can include delusions, hallucinations, and other negative symptoms. Organic forms can result from various cerebral disorders. In this paper, we discuss a potential association between schizophrenia and hereditary polyneuropathies (PNPs). Case presentation: We present the case of a 55-year-old female patient with chronically paranoid-hallucinatory schizophrenia, severe cognitive deficits since the age of 30, and comorbid repeated focal pressure neuropathies beginning at age 20. At the age of 35, genetic testing revealed a deletion on chromosome 17p12 covering the peripheral myelin protein 22 gene (PMP22), which led to the diagnosis of hereditary neuropathy with liability to pressure palsy (HNPP). Cerebral magnetic resonance imaging showed internal atrophy, magnetic resonance spectroscopy found alteration of the glutamate and myo-inositol levels in the anterior cingulate cortex, neuropsychological testing showed deficits in working memory and psychomotor speed, and electrophysiological testing detected signs of sensorimotor demyelinating PNP (accentuated in the legs). Conclusion: There may be an association between schizophrenia and HNPP. In observational studies, the deletion of interest (chromosome 17p12) was nearly 10 times more common in schizophreniform patients than in controls. This potential association could be pathophysiologically explained by the role of PMP22, which is mainly expressed in the peripheral nervous system. However, PMP22 mRNA and protein can also be found in the brain. PMP22 seems to play an important role in regulating cell growth and myelination, functions that are disturbed in schizophrenia. Such a connection obviously cannot be clarified on the basis of one case. Future studies should analyze whether patients with HNPP exhibit increased rates of psychotic disorders, and patients with schizophrenia and repeated focal pressure neuropathies should be examined for the PMP22 mutation. Alternatively, the co-occurrence of schizophrenia and HNPP could be coincidental.
A Case of Urinary Sepsis Secondary to Streptococcus sanguinis
Authors: Ashley Reuter, Ashley Heyman, Benjamin Stockton, David Kraklau, Michael S Wang
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

We report a case of a 71-year-old male with a history of BPH who presented with flank pain, fever, chills, abdominal pain, and nausea. He had a dental cleaning 1 month prior to admission and flosses daily. Laboratory data revealed both urine and blood cultures to be positive for streptococcus sanguinis. Computed tomography revealed a 10 mm right ureteral stone, and an ultrasound demonstrated moderate right hydronephrosis. He underwent an ureteroscopy with stent placement. A transesophageal echocardiogram was negative for endocarditis. He completed 2 weeks of IV ceftriaxone and made a complete recovery.
A Rare Association of Autoimmune Hemolytic Anemia with Gastric Adenocarcinoma
Authors: Kavita Agrawal, Flores Alfonso
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

An 80-year-old male presented with dyspnea on exertion for at least two months. He also complained of progressive dysphagia and weight loss of 35 pounds over the last eight months. Initial blood tests showed hemoglobin of 6.1 g/dl, reticulocytes count of 19.7%, total bilirubin of 3.2 mg/dl, lactate dehydrogenase of 600 U/L, and haptoglobin of less than 8 mg/dl, and direct Coombs test was positive for warm immunoglobulin G. The impression was autoimmune hemolytic anemia (AIHA). The evaluation of dysphagia with esophagogastroduodenoscopy revealed a single irregular 4 cm malignant appearing ulcerated mass at the incisura angularis of the stomach. The mass was confirmed as adenocarcinoma on biopsy. Diagnostic laparoscopy was positive for malignant cells and he was diagnosed with stage IV adenocarcinoma of the stomach. Other extensive workup to determine the etiology of AIHA was negative (described in detail below). Surgery was deferred primarily due to metastasis of cancer. Initially, hemoglobin was stabilized by intravenous methylprednisolone, high dose immunoglobulins, and packed red blood cell transfusions. After a few weeks, hemoglobin started trending down again. The patient was weaned off steroids and paradoxically IgG-mediated autohemolysis was controlled with the initiation of palliative chemotherapy. Our case highlights a rare occurrence of AIHA in association with gastric adenocarcinoma.
Ameloblastic Fibroodontoma: Uncommon Case Presentation in a 6-Year-Old Child with Review of the Literature
Authors: Anshad Mohamed Abdulla, G Sivadas, L K Surej Kumar, C S Sheejith Hari Peeceeyen, Vaishnavi Vedam
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Ameloblastic fibroodontoma is a benign mixed odontogenic neoplasm considered in patients with asymptomatic swelling and unerupted teeth that exhibit histologic features between ameloblastic fibroma and complex odontoma. Radiographically, this lesion appears as radiolucency admixed with focal radio opaque masses of irregular shapes and sizes. This lesion is confirmed by the presence of proliferating odontogenic epithelium, ectomesenchyme, and dental hard tissue formation on pathological analysis supplementing clinical and radiographic findings. As this tumour is less commonly seen in routine clinical practice, ameloblastic fibroodontoma with detailed orofacial features and periodic approach to its diagnosis is discussed. This paper reports a case of ameloblastic fibroodontoma of the mandible in a 6-year-old male patient with an uncommon case presentation and review of the literature.
Mitral annular disjunction: A case series and review of the literature
Authors: Stephanie Wu, Robert J Siegel
Journal: Front Cardiovasc Med (2022)
Keywords: mitral annular disjunction, mitral valve prolapse, sudden cardiac death, transthoracic echocardiogram, ventricular arrhythmia
MeSH terms: Review

Mitral annular disjunction (MAD) is an abnormal displacement of the mitral valve leaflet onto the left atrial wall and is commonly found in patients with mitral valve prolapse (MVP). The diagnosis is usually made by transthoracic echocardiography (TTE) although findings can be subtle and further cardiac imaging may be necessary. MAD has been associated with a risk of malignant ventricular arrhythmias and sudden cardiac death, therefore recognition of this diagnosis and risk stratification are highly important. In this review, we will discuss the diagnosis, clinical implications, risk stratification and management of MAD based upon currently available literature, as well as provide a series of cases showing the heterogeneity in presentation and our experience with management of this rare but potentially fatal entity.
ST-Elevation Myocardial Infarction (STEMI) in a Patient with Moyamoya Disease
Authors: James Livesay, Jeffrey Johnson
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Moyamoya disease is a rare condition that is primarily reported in Asian populations, characterized by stenoocclusive intracranial angiopathy with small, fragile, and multiple collateral vessel formation. Extracranial complications, mainly abnormalities within the renal vasculature, have been described; however, there are very few case reports of cardiovascular complications in patients with Moyamoya disease. We report a 26-year-old Caucasian female with known Moyamoya disease who presented with both typical and atypical chest pain, mimicking symptoms of a previous non-ST-elevation myocardial infarction. Approximately six months prior to the current hospital admission, she underwent coronary angiography requiring percutaneous coronary intervention (PCI) with two drug-eluting stents to the right coronary artery (RCA) for a critical stenosis. Despite medical management, our patient developed inferior lead ST-elevations leading to a repeat left heart catheterization which showed clinically significant stenosis of the first obtuse marginal branch. Development of significant coronary artery stenosis in a short period of time demonstrates the clinical significance of minimal atherosclerosis in the setting of underlying fibrocellular thickening as seen in patients with Moyamoya disease. Clinicians need to be aware of the possibility of coronary involvement in addition to intracranial vascular complications in patients with Moyamoya disease and take appropriate measures to prevent or delay the development of atherosclerosis in these arteries.
Neostigmine to relieve a suspected colonic pseudo-obstruction in a burn patient: a case-based review of the literature
Authors: Abel A Gebre-Giorgis, Ensign Joseph D Roderique, Dane Stewart, Michael J Feldman, Andrea L Pozez
Journal: Eplasty (2013)

Objective:
Neostigmine is one of the treatment options for colonic pseudo-obstruction in the medical patient. However, experience in using neostigmine for this indication in burn patients has not been reported in the literature. We will present a case of a woman who developed colonic pseudo-obstruction during her hospital stay. When conservative management failed, neostigmine was administered with no adverse effects and resolution of the pseudo-obstruction. We will review the literature regarding the pathophysiology and treatment options for acute colonic pseudo-obstruction in burn patients.
Methods:
A 27-year-old woman with 35% total body surface area deep-partial and full-thickness flame burns. On hospital day 17, she developed a nonobstructive ileus. She failed conservative medical therapy. After consultation with colleagues in trauma surgery and a review of the literature (MeSH/PubMed/NLM), the decision was made to try neostigmine therapy rather than a surgical/procedural option such as colonoscopy.
Results:
The patient was moved to the intensive care unit and 2 mg of neostigmine was administered intravenously over 4 minutes. After 30 minutes, all abdominal examination findings had returned to baseline. No significant adverse effects were noted, and she did not redevelop abdominal distension afterward.
Conclusion:
This case report provides an alternative treatment modality in which neostigmine was used successfully in a burn patient after conservative medical treatment had failed. The authors believe that neostigmine may be a viable alternative to decompressive colonoscopy in burn patients for whom mechanical obstruction is properly excluded.
Adalimumab Induced or Provoked MS in Patient with Autoimmune Uveitis: A Case Report and Review of the Literature
Authors: Rana Alnasser Alsukhni, Ziena Jriekh, Yasmin Aboras
Journal: Case Rep Med (2016)

Anti-tumor necrosis factor α (anti-TNF-α) agents have been widely used in the field of autoimmune diseases and have proved decisive efficacy and relative safety. Data concerning their adverse effects has been lately describing central nervous system (CNS) demyelination process at escalating basis. Case Presentation. A 23-year-old male with autoimmune uveitis and a family history of multiple sclerosis (MS) developed two neurological attacks, after Adalimumab infusion, simultaneously with several cerebral lesions on magnetic resonance imaging (MRI). Hence the diagnosis of Adalimumab induced MS was suspected. Conclusion. This case is reported to tell physicians to be cautious when using anti-TNF-α in patients with family history of MS and to reconsider the risk of MS in patients with autoimmune diseases.
Percutaneous Trapeziometacarpal Arthrodesis in Thumb Carpometacarpal Joint Arthritis: A New Surgical Approach
Authors: D Mifsut-Miedes, J R Rodríguez-Collell, A Valverde-Navarro, E M González-Soler
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

The high prevalence of trapeziometacarpal arthritis has resulted in the development of several surgical techniques intended to treat patients failing conservative treatment. However, there is no scientific evidence of the superiority of one technique over others. Open arthrodesis has up to now been successfully used to treat this condition. We believe that performing the technique using a minimally invasive approach with long and short Shannon burrs together with the tapered burr included in the MIS foot instrument set can yield satisfactory results. This article provides a description of this minimally invasive technique performed on a seventy-year-old woman with rhizarthrosis and an anatomical description of the approach in a human cadaver.
Case Report: Early detection and intervention of congenital portosystemic shunts in children
Authors: Ying Zhang, Tianzhuo Yu, Yanhong Mi, Wenzhi Zhang, Gaoyi Yang
Journal: Front Oncol (2023)
Keywords: child, color doppler ultrasound, congenital portosystemic shunts, diagnosis, hepatic tumor
MeSH terms: Case Reports

Congenital portosystemic shunts (CPSS) are rare vascular anomalies that cause abnormal communications between the portal and systemic venous systems and may be incidentally detected on imaging or via abnormal laboratory parameters due to the lack of specificity in the condition's clinical presentation. Ultrasound (US) is a common tool for examining abdominal solid organs and vessels and is the initial imaging modality for diagnosing CPSS. Here we report the case of an 8-year-old Chinese boy with CPSS diagnosed using color Doppler US. Doppler US first found intrahepatic tumor, then revealed that the left portal vein was directly communicating with the inferior vena cava, and the boy was finally diagnosed with intrahepatic portosystemic shunts. Interventional therapy was employed to occlude the shunt. During the follow-up, the intrahepatic tumor disappeared and no complications. Hence, to be able to differentiate such vascular anomalies, clinicians should be fairly acquainted with the normal ultrasonographic anatomical features in daily clinical work. Furthermore, increased disease awareness and advances in imaging equipment and technology are essential for CPSS diagnosis.
Pericardial Tamponade and Elevated Serum CA-125 Level in Inadequately Treated Hypothyroidism
Authors: Moaaz Baghal, Viralkumar Amrutiya, Bhoomi Patel, Rutwik Patel, Jonathan Hernandez, Mohamed Ahmed, Abraham Lo, Mark Gabelman
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Cardiac tamponade is a medical emergency and must be managed promptly, and reaching a diagnosis is imperative to prevent recurrence. Herein, we present a case of a young female patient that presented with progressive shortness of breath and abdominal distension and was found to have cardiac tamponade with the finding of elevation of a blood tumor marker, CA-125, in the setting of nonadherence to thyroid replacement therapy. She was managed by surgical pericardial window and abdominal paracentesis, with replacement of thyroid hormones leading to resolution of the tamponade and ascites. CA-125 elevation associated with cardiac tamponade and myxedema ascites due to hypothyroidism is very rare, and we aim to shed light on the importance of having a broad differential when approaching cardiac tamponade and understand the association between CA-125 and hypothyroidism.
Different Treatments of Symptomatic Angiomyolipomas of the Kidney: Two Case Reports
Authors: Giuseppina Pacella, Eliodoro Faiella, Carlo Altomare, Flavio Andresciani, Gennaro Castiello, Caterina Bernetti, Marina Sarli, Bruno Beomonte Zobel, Rosario Francesco Grasso
Journal: J Kidney Cancer VHL (2021)
Keywords: angiomyolipomas, cryoablation, transarterial embolization
MeSH terms: Case Reports

Development of more sensitive imaging techniques has caused an increase in the number of diagnosed small renal tumors. Approximately 2-3% of these lesions are proved to be angiomyolipomas (AML), a rare benign tumor of the kidney sometimes causing pain and hematuria. The most required approach is observation, but in the case of recurrent symptoms or larger tumors, which may cause bleeding, a more active treatment is required. We present two cases of symptomatic AML tumors of different sizes in the kidney: one treated with transarterial embolization (TAE), and the other with percutaneous cryoablation (CRA). The lesions were diagnosed on the basis of contrast-enhanced computed tomography (CT) scan and magnetic resonance imaging (MRI). Both treatments proved to be effective and safe for treating renal AMLs. A follow-up carried out, based on contrast-enhanced CT scan, confirmed complete treatment of AML and decreased lesion size. There are myriad minimally invasive approaches for the treatment of renal AMLs, and the preservation of renal function remains a priority. The most popular treatment option is the selective renal artery embolization. Owing to its limited invasiveness, CRA could be an attractive option for the preventive treatment of AML.
A Case Series of Surgical Resection of Anterior and Posterior Butterfly Glioma Grade 4 via a Minimally Invasive Keyhole Approach
Authors: Dorin Bica, Artsiom Klimko, Ion Poeata
Journal: Cureus (2023)
Keywords: butterfly glioblastoma surgery, butterfly glioma, extent of resection benefit, keyhole approach, keyhole interhemispheric neurosurgery, keyhole neurosurgery, survival benefit
MeSH terms: Case Reports

Surgical resection of infiltrating glial neoplasms has proven to improve quality of life and confer a significant survival benefit. As accumulating evidence cements the role of surgery in grade 4 gliomas, there is a general trend to transition away from traditional large craniotomies to smaller 'keyhole' approaches, which aim to reduce the trauma and complication profiles associated with large exposures. A keyhole approach uses a small craniotomy positioned perfectly to reach at least all the target structures that a conventional approach would reach. We present a case series of operated butterfly gliomas grade 4 patients through keyhole approaches. All three operated patients have better survival than the literature biopsy groups. The resection of butterfly gliomas should be considered in selected cases. For some patients, it is feasible with the technology used nowadays, with improved quality of life and better survival prognosis.
Case report: Brucellosis with rare multiple pulmonary nodules in a depressed patient
Authors: Mingjing Zhou, Ke Wang, Haoyuan Liu, Ran Ran, Xuan Wang, Yuqian Yang, Qunying Han, Yi Zhou, Xiaojing Liu
Journal: Front Med (Lausanne) (2023)
Keywords: brucellosis, case report, depression, developing countries, pulmonary nodules
MeSH terms: Case Reports

Background:
Brucellosis is a zoonotic disease that threatens public health and creates an economic burden. Unfortunately, it is often overlooked in developing countries, with misdiagnosis causing negative impacts on those with low income. Although the symptoms of brucellosis are commonly reported as fever and fatigue, rare pulmonary, and psychiatric involvements should also be considered. We present the first brucellosis patient in China with multiple pulmonary nodules and depression. Furthermore, this report highlights the importance of collecting patient history in epidemic areas of brucellosis.
Case presentation:
We report the case of a 40-year-old woman with intermittent fever for 2 months and gradually accompanied by chills, dry cough, arthralgia, and fatigue. The patient was also diagnosed with depression after fever. She received symptomatic treatment at a regional hospital; however, there was no significant symptom relief. She suddenly developed hemoptysis 1 day prior to arrival at our hospital, where we discovered that her liver, spleen, neck, and axillary lymph nodes were enlarged, and there were multiple nodules in both lungs. The patient was eventually diagnosed with brucellosis after the serum agglutination test and received antibiotic therapy, which provided symptom relief.
Conclusion:
This report describes a case of brucellosis with uncommon multipulmonary nodules and depression in China. This study has widened the evidence of respiratory involvement due to brucellosis. Second, it demonstrates the importance of collecting a comprehensive medical history, especially in epidemic areas. In conclusion, for febrile patients with pulmonary nodules and depression, especially in endemic areas, brucellosis should be considered.
Polymyxin Combination Therapy and the Use of Serum Bactericidal Titers in the Management of KPC-Producing Klebsiella pneumoniae Infections: A Report of 3 Cases
Authors: Eric Gomez, Martha Sanchez, Zonaira Gul, Carl Urban, Noriel Mariano, Robert H K Eng, David B Huang, Tom Chiang
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Management of patients with KPC-harboring Enterobacteriaceae has become a significant and challenging scenario. We report three cases of KPC-producing Klebsiella pneumoniae bacteremia that were successfully treated using combination therapy with polymyxin B and other antimicrobials. Serum bactericidal titers were determined and provided additional clinical guidance in the management of such patients.
Sphenoid sinus neuroendocrine carcinoma
Authors: Eduardo Matarolo Jayme, Tauy Pereira Morimoto, Thales Masirevic Lozano, Zélia Maria de Sousa Campos, Cláudio Campi de Castro
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Neuroendocrine tumours are epithelial neoplasms with predominant neuroendocrine differentiation. The nasal cavity and paranasal sinuses are rare locations for neuroendocrine carcinomas, and only a few related papers have been published in the literature to date. Here we present the case of a 64-year-old male with neuroendocrine carcinoma of the sphenoid sinus, along with the main MRI findings.
Phenotypic variability within the desminopathies: A case series of three patients
Authors: Dennis Yeow, Matthew Katz, Robert Henderson, Sandhir Prasad, Russell Denman, Stefan Blum, Mark Davis, Thomas Robertson, Pamela McCombe
Journal: Front Neurol (2023)
Keywords: cardiomyopathy, desmin, desminopathy, myofibrillar myopathy, splice-site mutation
MeSH terms: Case Reports

The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic DES variants produce a range of skeletal and cardiac muscle disorders collectively known as the desminopathies. We report three desminopathy cases which highlight the phenotypic heterogeneity of this disorder and discuss various factors that may contribute to the clinical differences seen between patients with different desmin variants and also between family members with the same variant.
Progression of Subclinical Pachychoroid Neovasculopathy to an Active Neovascularization in the Presence of Acquired Vitelliform Lesions
Authors: Manoj Soman, Sameer Iqbal, Jay U Sheth, Padmanaban Meleth, Unnikrishnan Nair
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

We describe a unique case of bilateral acquired vitelliform lesions in a 67-year-old-female with pachychoroid associated with subretinal fluid in the right eye (OD) and a nonexudative choroidal neovascular membrane (CNVM) in the left eye (OS). Multimodal imaging performed at baseline and over the ensuing two years showed an increase in the OS vitelliform lesions with a concurrent transformation of quiescent CNVM to an exudative form. Further studies are warranted to gain better insight into the etiopathogenesis of these vitelliform lesions in pachychoroid and their potential role in instigating CNVM activation.