OpenMed/multicare-articles huggingface dataset:
Glioblastoma multiforme: a rare manifestation of extensive liver and bone metastases
Authors: Mc Robert, Ml Wastie
Journal: Biomed Imaging Interv J (2008)
Keywords: gbm, glioblastoma multiforme, extracranial metastases, glioma
MeSH terms: Case Reports

Glioblastoma multiforme (GBM) is the most aggressive form of primary brain tumours known collectively as gliomas. Gliomas are graded by their microscopic appearance. As a rule, their behaviour can be predicted from histology: Grade I (pilocytic astrocytomas) and Grade II (benign astrocytomas) tumours are of low grade and grow slowly over many years. Grade IV tumours (GBM) are the most aggressive and, unfortunately, also the most common in humans, growing rapidly, invading and altering brain function. These tumours arise from the supporting glial cells of the brain during childhood and in adulthood.These growths do not spread throughout the body like other forms of cancer, but cause symptoms by invading the brain. Untreated GBMs are rapidly lethal. Most patients with GBM die of their disease in less than a year and none have long term survival.Extracranial metastases from GBM are extremely rare, with a reported frequency of only 0.44% because of the absence of lymphatics in the brain and the difficulty of tumours to penetrate blood vessels. A case of glioblastoma multiforme with the rare features of extensive liver and bone metastases is presented in this paper.
Silicone granuloma mimicking Breast Implant Associated Large Cell Lymphoma (BIA-ALCL): a case report
Authors: Elizabeth Shepard, Srdjan Kamenko, Olivia L Snir, Juliana Hansen
Journal: Case Reports Plast Surg Hand Surg (2020)
Keywords: breast implant associated anaplastic large cell lymphoma (bia-alcl), adenitis, mimicker, silicone granuloma
MeSH terms: Case Reports

We describe the case of a 75-year-old woman with textured silicone implants who was referred to our institution with concern for implant rupture and Breast Implant Associated Anaplastic Large Cell Lymphoma (BIA-ALCL). After explantation and pathologic evaluation, she was diagnosed with silicone granuloma and adenitis, though her presentation mimicked BIA-ALCL.
Case report: Left atrial myxoma with morphology of cavernous hemangioma supplied by the right coronary artery
Authors: Shouji Zhang, Junlin Wang, Fahang Song, Fan Yang, Fang Li, Shangxin Liu, Jiwei Ma, Haizhou Zhang, Xiaochun Ma
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac myxoma, cardiac pathology, cardiac surgery, cardiac tumors, coronary angiography, coronary steal
MeSH terms: Case Reports

Here, we report an unusual case of left atrial myxoma presented with morphology of cavernous hemangioma supplied by the right coronary artery. Surgical resection of the left atrium myxoma was performed, and the patient experienced an uneventful recovery during hospitalization.
Congenital Rubella Syndrome as a possible cause for persistent thrombocytopenia in early infancy: The Forgotten Culprit
Authors: Jogender Kumar, Venkataseshan Sundaram, Kirti Gupta, Anmol Bhatia, Gurwinder Kaur, Sourabh Dutta
Journal: Autops Case Rep (2022)
Keywords: autopsy, neuropathology, pathology, rubella syndrome, congenital, thrombocytopenia
MeSH terms: Case Reports

We present a case of a late preterm intrauterine growth-restricted neonate with isolated and persistent severe thrombocytopenia. At birth, the neonate did not have a complete clinical spectrum of congenital rubella syndrome (CRS) but later developed peculiar findings that helped clinch the diagnosis. The neonate also had interstitial pneumonia and died secondary to superimposed acute viral infection leading to acute respiratory distress syndrome. The serology was positive for IgM antibodies against the rubella virus. The constellation of clinical manifestations of congenital rubella in the presence of positive IgM antibody against rubella and consistent histopathology confirmed the diagnosis of CRS.
A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report
Authors: Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Journal: Front Pediatr (2022)
Keywords: pkp2, arrhythmogenic right ventricular dysplasia/cardiomyopathy (arvd/c), case report, hypoplastic left heart syndrome, ventricular non-compaction
MeSH terms: Case Reports

Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy. The disorder vastly affects infants and young children. Severe neonatal LVNC is relatively rare. The prevalence of genetic defects underlying pediatric and adult-onset LVNC is about 17-40%. Mutations of MYH7 and MYBPC3 sarcomeric genes are found in the vast majority of the positive pediatric cases. PKP2 encodes plakophilin-2, a non-sarcomeric desmosomal protein, which has multiple roles in cardiac myocytes including cell-cell adhesion, tightening gap junction, and transcriptional factor. Most of the reported PKP2 mutations are heterozygous missense and truncating variants, and they are associated with an adult-onset autosomal dominant disorder, namely arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Homozygous PKP2 mutations have been rarely described. Herein, we present a rare case of an infant with neonatal onset of congestive heart failure owing to severe LVNC and multiple muscular VSD. Medical treatments failed to control the heart failure and the patient died at 11 months of age. Whole-exome sequencing identified a novel homozygous PKP2 variant, c.1511-1G>C, in the patient. An mRNA analysis revealed aberrant transcript lacking exon 7, which was predicted to cause a frameshift and truncated peptide (p.Gly460GlufsTer2). The heterozygous parents had normal cardiac structures and functions as demonstrated by electrocardiogram and echocardiography. Pathogenic variants of sarcomeric genes analyzed were not found in the patient. We conducted a literature review and identified eight families with biallelic PKP2 mutations. We observed that three families (our included) with null variants were linked to lethal phenotypes, while homozygous missense mutations resulted in less severe manifestations: adolescent-onset ARVD/C and childhood-onset DCM. Our data support a previous notion that severe neonatal LVNC might represent a unique entity and had distinct genetic spectrum. In conclusion, the present study has extended the phenotypes and genotypes of PKP2-related disorders and lethal LVNC.
NmcA carbapenem-hydrolyzing enzyme in Enterobacter cloacae in North America
Authors: Sudha Pottumarthy, Ellen Smith Moland, Stefan Juretschko, Susan R Swanzy, Kenneth S Thomson, Thomas R Fritsche
Journal: Emerg Infect Dis (2003)
MeSH terms: Bacterial Proteins, Enterobacter cloacae / enzymology, Imipenem / pharmacology, Leukemia, Myeloid / enzymology, beta-Lactamases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Drug Resistance, Microbial, Enterobacter cloacae / drug effects, Enterobacter cloacae / genetics, Humans, Isoelectric Focusing, Male, Microbial Sensitivity Tests, beta-Lactamases / isolation & purification, Bacterial Proteins, Imipenem, NmcA protein, Enterobacter cloacae, beta-Lactamases

An imipenem-resistant Enterobacter cloacae isolate was recovered from the blood of a patient with a hematologic malignancy. Analytical isoelectric focusing, inhibitor studies, hydrolysis, induction assays, and molecular sequencing methods confirmed the presence of a NmcA carbapenem-hydrolyzing enzyme. This first report of NmcA detected in North America warrants further investigation into its distribution and clinical impact.
Phobia of the Supernatural: A Distinct but Poorly Recognized Specific Phobia With an Adverse Impact on Daily Living
Authors: Ricardo de Oliveira-Souza
Journal: Front Psychiatry (2018)
Keywords: anwesenheit, fears, idea of presence, insomnia, nocturnal anxiety, specific phobia
MeSH terms: Case Reports

The psychological and psychiatric literature has seldom appreciated the clinical fact that fears of ghosts and kindred supernatural worries may be a cause of intense discomfort, poor sleep, and socio-occupational impairment. In the present article, this claim is illustrated by the clinical features of six patients who developed intense anxiety when they had to sleep alone at night. The fears were first noticed in childhood and persisted into adolescence and adulthood. At these times, they were overwhelmed by images of ghosts and haunted houses often experiencing a vivid impression that an immaterial being not perceivable by the ordinary senses was hovering around. Comorbidity with other phobias was the rule. Owing to shame and self-consciousness, the fears were seldom if ever discussed with healthcare professionals. The overall clinical and psychopathological picture was consistent with a diagnosis of a specific phobia. In a few cases, response to pharmacological treatment and cognitive-behavioral intervention has alleviated the symptoms. "Phobia of the supernatural" may be more common than usually thought. It must actively be sought for in patients complaining of poor sleep and daytime somnolence, and in patients with other types of phobia. The differential diagnosis of phobia of the supernatural includes nocturnal panic attacks, psychosis, other types of phobia that tend to occur during the night, dissociative states of sleep, dementia, and a few rare presentations of epilepsy. Systematic studies must be carried out to settle the neurobiological correlates of phobia of the supernatural as well as the possible benefit of different modalities of pharmacological and psychological treatment.
Multidrug-Resistant Tuberculosis during Pregnancy: Two Case Reports and Review of the Literature
Authors: Minakshi Rohilla, Bharti Joshi, Vanita Jain, Jasvinder Kalra, G R V Prasad
Journal: Case Rep Obstet Gynecol (2016)

Multidrug-resistant tuberculosis (MDR-TB) is identified from the time of introduction of antituberculosis treatment and is a known worldwide public health crisis affecting women of reproductive age group. Management issues raised by pregnant women with MDR tuberculosis are challenging due to the limited clinical experience available with the use of second line drugs. We hereby report two cases of MDR-TB during pregnancy: one patient was on second line drugs, while another one was evaluated and diagnosed to have MDR-TB in last trimester. At 6 months of follow-up both mothers and babies are doing well. The approach to such cases along with review of the literature is discussed.
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
Authors: Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Ondrej Slaby, Dagmar Prochazkova
Journal: Front Genet (2020)
Keywords: pmm2-cdg, novel splicing variant, pericardial effusion, phosphomannomutase 2, whole exome sequencing

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG. Most of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly psychomotor retardation, facial dysmorphisms, characteristic distribution of the fat pads, and variable coagulation abnormalities. The association of fetal hydrops with CDG has been reported, and pericardial effusion was also rarely observed in patients with PMM2-CDG. Here we describe an infant boy with PMM2-CDG. The diagnosis was suspected based on inverted nipples, fat pads, and combined coagulopathy. However, the primary symptom was progressive pericardial effusion leading to patient death at the age of 3 months. Screening for CDG performed by the use of isoelectric focusing of serum transferrin showed a typical PMM2-CDG pattern. Exome sequencing revealed one common pathogenic variant (c.691G > A/p.Val231Met) and one novel variant (c.447 + 3dupA) in the PMM2 gene. Both PMM2 variants were further confirmed by Sanger sequencing in both the proband and the parents' DNA. The novel variant was predicted to result in loss of donor splice site, and the analysis at mRNA level confirmed that it leads to exon five skipping (r.348_447del) and causes premature termination of translation to the protein (p.G117Kfs∗4), therefore is classified as likely pathogenic. Although there is no curative therapy for the PMM2-CDG at the moment, the other supportive care options are available to be offered. The definite diagnosis of PMM2-CDG can also assist in the process of genetic counseling, family planning, and preimplantation genetic diagnosis.
Lower gastrointestinal bleeding due to colonic fistula caused by a gossypiboma: Case report and literature review
Authors: María José Gómez-Jurado, Anna Curell, Rocío Martín, Amador García Ruiz de Gordejuela, Manel Armengol
Journal: Int J Surg Case Rep (2020)
Keywords: colonic fistula, complication, foreing body, gossypiboma, lower gastrointestinal bleeding, retained surgical item
MeSH terms: Case Reports

Introduction:
Even in modern surgery, human mistakes cannot be totally avoided. Retained surgical items are among the most feared ones. Forgotten sponges inside patients can cause a wide range of complications due to the foreign body reaction, called gossypiboma. The incidence of gossypibomas in the literature is probably underreported due to its legal implications; however, we must know its consequences and highlight the importance of the prevention strategies. We present a case where only preventive measures would have avoided its fatal outcome.
Presentation of case:
An 85-year-old male, previous left nephrectomy 12 years before, came to the emergency room with hematochezia and hemodynamic instability. An emergent angio-CT revealed a 12 cm mass due to a gossypiboma near the descending colon; the presence of air suggested an infection and/or fistulization to the bowel. It was decided not to perform invasive procedures, resulting in the patient's death.
Discussion:
Gossypibomas can remain asymptomatic for years, being diagnosed when causing an obstruction, malabsorption, septic symptoms or even spontaneously. This may lead to high morbidity and mortality rates. In order to prevent it, different strategies have been described, with the objective to intensify surveillance. When diagnosed, laparotomy, laparoscopic and even endoscopic procedures have been performed successfully.
Conclusion:
We suggest putting all our efforts in identifying high risk patients and surgeries, training the OR team and enhancing protocols and checklists to minimize any preventable errors.
A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao
Journal: Mol Cytogenet (2019)
Keywords: 14q13 deletion, brain-lung-thyroid syndrome, cnv-seq, immunodeficiency
MeSH terms: Case Reports

Background:
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2-1, PAX9 were identified.
Case presentation:
We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2-1, PAX9 and NFKBIA. Our patient's phenotype is consistent with other published 14q13 deletion patients.
Conclusion:
Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.
Incomplete Refractory Kawasaki Disease in an Infant-A Case Report and a Review of the Literature
Authors: Cristina O Mărginean, Lorena E Meliț, Liliana Gozar, Cristian Dan Mărginean, Maria O Mărginean
Journal: Front Pediatr (2018)
Keywords: kawasaki disease, child, coronary aneurysm, methyl-prednisolone, refractory form
MeSH terms: Case Reports

Kawasaki disease (KD) is a febrile vasculitis, which is commonly defined by fever and at least four specific clinical symptoms. Incomplete KD is defined by suggestive echocardiographic findings with an incomplete clinical picture. Refractory KD is diagnosed in patients resistant to intravenous immunoglobulin (IVIG). We report the case of a 6-month-old male infant admitted to our clinic for persistent fever and onset of a generalized polymorphous rash, accompanied by high fever, rhinorrhea, and cough for the past 7 days. The laboratory tests, on the day of admission, revealed leukocytosis with neutrophilia, anemia, thrombocytosis, hypernatremia, hypoalbuminemia, elevated C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). Echocardiography showed dilation of the left anterior descending coronary artery (LAD). Based on all these findings, we established the diagnosis of KD, and we initiated IVIG and intravenous pulsed methylprednisolone, with an initial favorable outcome. However, the symptoms reappeared, and we administered a second higher single dose of IVIG, but without any clinical improvement. Moreover, the laboratory parameters and echocardiographic findings worsened. We reinitiated a longer course of intravenous methylprednisolone in a smaller dose, which had a favorable impact on the clinical, laboratory, and echocardiographic parameters. Multiple uncertainties exist related to the management of refractory KD despite the wide spectrum of therapeutic options that have been proposed. Our case demonstrates that in patients refractory to aggressive initial therapy, low or moderate doses of steroid given daily may be helpful.
Bilateral distal radius fractures in a 12-year-old boy after household electrical shock: case report and literature summary
Authors: Norman Stone 3rd, Mara Karamitopoulos, David Edelstein, Jenifer Hashem, James Tucci
Journal: Case Rep Med (2014)

Background. Fracture resulting from household electric shock is uncommon. When it occurs, it is usually the result of a fall; however, electricity itself can cause sufficient tetany to produce a fracture. We present the case of bilateral fractures of the distal radii of a 12-year-old boy which were sustained after accidental shock. The literature regarding fractures after domestic electric shock is also reviewed. Methods. An Ovid-Medline search was conducted. The resultant articles and their bibliographies were surveyed for cases describing fractures resulting from a typical household-level voltage (110-220 V, 50-60 Hertz) and not a fall after the shock. Twenty-one articles describing 22 patients were identified. Results. Twenty-two cases were identified. Thirteen were unilateral injuries; 9 were bilateral. Proximal humerus fractures were most frequent (8 cases), followed by scapula fractures (7 cases), forearm fractures (4 cases), femoral neck fractures (2 cases), and vertebral body fracture (1 case). Eight of the 22 cases were diagnosed days to weeks after the injury. Conclusions. Fracture after electric shock is uncommon. It should be suspected in patients with persistent pain, particularly in the shoulder or forearm area. Distal radius fractures that occur during electrocution are likely due to tetany.
When amiodarone-induced thyroiditis meets cardiomyopathy with excessive trabeculation: a case report
Authors: Dora Gašparini, Damir Raljević, Vesna Pehar-Pejčinović, Tihana Klarica Gembić, Viktor Peršić, Tamara Turk Wensveen
Journal: Front Cardiovasc Med (2023)
Keywords: amiodarone, case report, isolated noncompaction of the ventricular myocardium, prednisone, ventricular tachycardia
MeSH terms: Case Reports

Introduction:
Amiodarone is a potent antiarrhythmic medication used to treat life-threatening ventricular arrhythmias; however, its well-established adverse effect is a thyroid disorder. Amiodarone-induced thyroiditis (AIT), a clinical entity involving two types with different etiopathology and treatment approaches, may occur at the beginning or even several years after amiodarone treatment discontinuation. The toxicity profile of amiodarone becomes especially important in young patients with lifelong cardiac disorders, which are often refractory to other antiarrhythmic drugs. Herein, we report the first case of non-sustained ventricular tachycardia (NSVT), an unusual presentation of type II AIT, in a young male patient who was previously diagnosed with left ventricular cardiomyopathy with excessive trabeculation.
Case report:
A 36-year-old male non-athlete presented with tiredness during regular follow-up. Continuous electrocardiographic monitoring (cECG) revealed NSVT, whereas echocardiography and cardiac magnetic resonance imaging detected discrete structural and functional changes that could not fully explain the observed cECG report. Conversely, an unmeasurably low thyrotropin level on admission and previous exposure to amiodarone pointed the diagnostic pathway in the direction of the thyroid gland. Elevated free thyroxine and undetectable autoantibody titers with unremarkable sonographic findings raised clinical suspicion of type II AIT. Scintigraphic imaging with 99mTc-2-methoxyisobutylisonitrile (sestamibi) revealed decreased thyroid uptake; hence, prednisone was introduced for treatment. Clear improvements in both biochemical and electrocardiographic parameters were observed after immunomodulatory treatment of type II AIT in this young patient with cardiomyopathy and excessive trabeculation.
Conclusion:
Treatment of reversible causes of cardiac rhythm abnormalities such as type II AIT should be considered before choosing other treatment modalities, particularly in patients with structural cardiac disorders. The importance of a multidisciplinary approach in complex cases such as the one reported, thus, cannot be emphasized enough.
Remission of Severe, Relapsed, and Refractory TTP after Multiple Cycles of Bortezomib
Authors: Manu R Pandey, Pankit Vachhani, Evelena P Ontiveros
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Acquired thrombotic thrombocytopenic purpura (TTP) is characterized by autoantibodies against a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). Uncleaved von Willebrand factor (VWF) multimers accumulate and bind to platelets which causes spontaneous microthrombi ultimately causing microangiopathic hemolytic anemia, thrombocytopenia, and end-organ ischemia. Plasma exchange (PEX) with or without steroids constitutes standard first-line therapy with rituximab typically reserved for refractory cases. Therapies beyond rituximab lack strong evidence for routine use. Recently, bortezomib, a proteasome inhibitor used commonly in patients with multiple myeloma, was shown to induce remission in patients with refractory TTP. Here, we report a case of severe, relapsed TTP that was refractory to PEX, steroids, and rituximab that underwent remission following three cycles of bortezomib. We discuss the salient features of our case, the mechanism of action of bortezomib, and the very few other similar reports that exist in the literature. We conclude that bortezomib should be considered for patients with TTP refractory to PEX, steroids, and rituximab due to its efficacy and relatively favorable side effect profile.