OpenMed/multicare-articles huggingface dataset:
An artefact of PET attenuation correction caused by iron overload of the liver in clinical PET-MRI
Authors: Florian Büther, Benjamin Noto, Katharina Auf der Springe, Thomas Allkemper, Lars Stegger
Journal: Eur J Hybrid Imaging (2017)
Keywords: attenuation correction, image artefacts, pet-mri

Background:
Attenuation correction is one of the most important steps in producing quantitative PET image data. In hybrid PET-MRI systems, this correction is far from trivial, as MRI data are not correlated to PET attenuation properties of the scanned object. Commercially available systems often employ correction schemes based on segmenting the body into different tissue classes (air, lung tissue, fat-, and water-like soft tissue), e.g. by using a dual time-point Dixon sequence. However, several pitfalls are known for this approach. Here a specific artefact of MR-based PET attenuation correction is reported, caused by misidentifying the liver as lung tissue due to iron overload.
Case presentation:
A patient with a history of hematopoietic stem cell transplantation underwent a whole-body [18F]FDG PET-MRI scan. Markedly low liver uptake values were noted in the PET images, seemingly caused by an erroneous assignment of lung tissue attenuation values to the liver. A closer investigation demonstrated markedly low MRI intensity values of the liver, indicative of secondary hemochromatosis (iron overload) most probably due to a history of multiple blood transfusions. Manual assignment of adequate liver attenuation values resulted in more realistic PET images.
Conclusions:
Iron overload of the liver was identified as a cause of a specific attenuation correction artefact. It remains to be seen how frequent this artefact will be encountered; however, this case highlights that attenuation maps should always be checked during PET image interpretation in hybrid PET-MRI.
Unusual case of severe arrhythmia developed after acute intoxication with tosylchloramide
Authors: Vincenzo Lariccia, Alessandra Moraca, Marco Marini, Annamaria Assunta Nasti, Ilaria Battistoni, Salvatore Amoroso, Gian Piero Perna
Journal: BMC Pharmacol Toxicol (2013)
MeSH terms: Chloramines / toxicity, Disinfectants / toxicity, Long QT Syndrome / chemically induced, Torsades de Pointes / chemically induced, Tosyl Compounds / toxicity, Case Reports, Accidents, Aged, Electrocardiography, Female, Humans, Chloramines, Disinfectants, Tosyl Compounds, chloramine-T

Background:
Drugs not commonly considered to be cardioactive agents may cause prolongation of the QT interval with resultant torsades de pointes and ventricular fibrillation. This form of drug toxicity often causes cardiac arrest or sudden death.
Case presentation:
After accidental ingestion of tosylchloramide a caucasian 77-year-old woman, with a family history of cardiovascular disease and hypertension, was admitted to the intensive care unit following episodes of torsades de pointes with a prolonged QT/QTc interval (640/542 ms). The patient received an implantable cardioverter-defibrillator, was discharged from the hospital with normal QT/QTc interval and did not experience additional ventricular arrhythmias during one year of follow-up.
Conclusion:
This is the first report concerning an unusual case of torsades de pointes after accidental intoxication by ingestion of tosylchloramide. The pronounced impact of the oxidyzing agent tosylchloramide on the activity of some of the ion channels regulating the QT interval was identified as a probable cause of the arrhythmia.
Case Report: Successful treatment of late-onset immune checkpoint inhibitor-associated membranous nephropathy in a patient with advanced renal cell carcinoma
Authors: Praveen Ratanasrimetha, Vikas D Reddy, Jaya Kala, Amanda Tchakarov, William F Glass, Pavlos Msaouel, Jamie S Lin
Journal: Front Immunol (2022)
Keywords: case report, immune checkpoint inhibitor (ici), immune related adverse events (iraes), membranous nephropathy (mn), proteinuria, renal cell carcinoma (rcc), rituximab
MeSH terms: Carcinoma, Renal Cell / diagnosis, Carcinoma, Renal Cell / drug therapy, Glomerulonephritis, Membranous / chemically induced, Glomerulonephritis, Membranous / diagnosis, Glomerulonephritis, Membranous / drug therapy, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Humans, Immune Checkpoint Inhibitors / adverse effects, Male, Middle Aged, Receptors, Phospholipase A2, Immune Checkpoint Inhibitors, Receptors, Phospholipase A2, Clear-cell metastatic renal cell carcinoma

Background:
Diagnosing immune checkpoint inhibitor (ICI)-associated nephritis can be challenging since it is a rare complication of therapy, associated with a spectrum of immune-mediated pathologies, and can present months after ICI therapy discontinuation (i.e., late-onset). ICIs are increasingly administered in combination with other cancer therapies with associated nephrotoxicity, further obfuscating the diagnosis of ICI-associated nephritis. In this report, we describe the first suspected case of late-onset ICI-associated membranous nephropathy (MN) in a patient with metastatic clear cell renal cell carcinoma (RCC) who had discontinued ICI therapy 6 months prior to presentation. Prompt recognition of the suspected late-onset immune-related adverse event (irAE) resulted in the successful treatment of MN and continuation of RCC therapy.
Case presentation:
A 57-year-old man with metastatic clear cell RCC was responsive to third-line RCC therapy with lenvatinib (oral TKI) and everolimus (oral mTOR inhibitor) when he presented with nephrotic range proteinuria and acute kidney injury (AKI). His kidney biopsy revealed probable secondary MN with subendothelial and mesangial immune complex deposits and negative staining for both phospholipase A2 receptor (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A). While a diagnosis of paraneoplastic MN could not be excluded, the patient was responding to cancer therapy and had tumor regression. However, 6 months prior to presentation, the patient had received pembrolizumab, an ICI, with his first-line RCC treatment. Due to concern that the patient may be presenting with late-onset ICI-associated MN, he was effectively treated with rituximab, which allowed for his continued RCC therapy.
Conclusion:
This report highlights the first case of suspected late-onset ICI-associated MN and the increasing complexity of recognizing renal irAEs. With the growing indications for the use of ICIs in combination with other cancer therapies, recognizing the various presentations of ICI-immune nephritis can help guide patient management and treatment.
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report
Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani, Eleonora Marchina
Journal: Mol Cytogenet (2020)
Keywords: array-cgh, cnvs, gilles de la tourette syndrome, intellectual disability, par2, xq28 trisomy
MeSH terms: Case Reports

Background:
Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present with additional comorbidities, typically attention deficit hyperactivity disorder (ADHD), obsessive- compulsive disorder (OCD), autism spectrum disorder (ASD) and intellectual disability (ID). Both TS and ID are genetically complex disorders that likely occur as a result of the effects of multiple genes interacting with other environmental factors. In addition to single gene mutations and chromosomal disorders, copy number variations (CNVs) are implicated across many NDDs and ID and contribute to their shared genetic etiology. Screening of CNVs using microarray-based Comparative Genomic Hybridization (aCGH) is now routinely performed in all subjects with NDD and ID.
Case presentation:
We report a case of a 12-year-old girl diagnosed with Gilles de la Tourette Syndrome associated to behavior disorders and intellectual disability in particular with regard to language. Array-CGH analysis showed a CNV of a subtelomeric region Xq28 (gain of 260 kb) inherited from the healthy father. The duplication contains two genes, VAMP7 and SPRY3 of the PAR2 pseudoautosomal region. FISH analysis revealed that the duplicated segment is located on the short arm of a chromosome 13, resulting in a trisomy of the region. In the proband the expression levels of the genes evaluated in the peripheral blood sample are comparable both those of the mother and to those of female control subjects.
Conclusions:
Although the trisomy of the 260 kb region from Xq28 identified in proband is also shared by the healthy father, it is tantalizing to speculate that, together with genetic risk factors inherited from the mother, it may play a role in the development of a form of Tourette syndrome with intellectual disability. This hypothesis is also supported by the fact that both genes present in the duplicated region (VAMP7 and SPRY3) are expressed in the CNS and are implicated in neurotransmission and neurite growth and branching. In addition, similar CNVs have been identified in individuals whose phenotype is associated with autism spectrum disorders or intellectual disability.
Mammary Analogue Secretory Carcinoma of the Parotid Gland: A Third World Country Perspective-A Case Series
Authors: Huzaifah Salat, Ramiz Mumtaz, Mubasher Ikram, Nasir Ud Din
Journal: Case Rep Otolaryngol (2015)

Mammary analogue secretory carcinoma (MASC) is a recently described pathological entity in major salivary glands, which was first described by Skálová et al. in 2010. Since then only a limited number of case reports/series have been published describing this tumor with the majority of them discussing the genetic and cytoarchitectural aspect of this tumor. Keeping this in view with the lack of clinical correlation with regard to this tumor, we present our approach to management of two such cases which, according to the best of our knowledge, are the first 2 cases presenting in the South Asian continent. Both patients were diagnosed and managed at Aga Khan University Hospital, Karachi, Pakistan.
Tyrosine Kinase Inhibitors as a Treatment of Symptomatic CNS Metastases in Oncogene-Driven NSCLC
Authors: Omer Gal, Elizabeth Dudnik, Ofer Rotem, Inbar Finkel, Idit Peretz, Alona Zer, Jacob Mandel, Alexandra Amiel, Tali Siegal, Jair Bar, Anastasiya Lobachov, Shlomit Yust
Journal: J Oncol (2020)

Central nervous system (CNS) metastases occur frequently in oncogene-driven non-small cell lung cancer (NSCLC). Standard treatment approaches can potentially delay systemic treatment (surgical intervention) or result in neurocognitive impairment (radiotherapy). Recently, next-generation tyrosine kinase inhibitors (TKIs) have demonstrated remarkable intracranial activity. However, most clinical trials did not enroll patients suffering neurological symptoms. Our study aimed to assess the CNS activity of targeted therapies in this patient population. We present a case series of nine NSCLC patients with either EGFR mutation or ALK rearrangement and symptomatic CNS metastases that were treated with TKIs. Clinicopathological characteristics, treatment, and outcomes were analyzed. Most patients presented with symptomatic CNS metastases at time of metastatic disease presentation (6/9). Additionally, the majority of patients had leptomeningeal disease (6/9) and multiple parenchymal metastases. Patients presented with a variety of CNS symptoms with the most common being nausea, vomiting, headache, and confusion. Most patients (6/9) responded rapidly both clinically and radiographically to the targeted treatment, with a marked correlation between systemic and intracranial radiographic response. In conclusion, upfront use of next-generation TKIs in patients with oncogene-driven NSCLC with symptomatic CNS metastases is associated with reasonable intracranial activity and represents a valuable treatment option.
Acute groin pain in pregnancy: a case of round ligament varicocele
Authors: Soumya Cicilet
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Varicocities of the round ligament is a relatively uncommon condition. Almost all the cases in literature had been reported in pregnant patients. It presents as a unilateral or bilateral painful or painless inguinal mass. Clinically it is difficult to distinguish from inguinal hernia on physical examination. We present a 22-year-old primigravida at 30 weeks of gestation with unilateral round ligament varicocele diagnosed on sonography and Doppler, who was managed conservatively.
Brain Death after Liver Transplantation for Fulminant Hepatic Failure: A Report of Two Cases
Authors: Musa Akoglu, Ali Sürmelioglu, Ilter Ozer, Metin Ercan, Murat Ulas, Meral Akdogan, Erdal Birol Bostanci
Journal: Euroasian J Hepatogastroenterol (2015)
Keywords: brain death, fulminant hepatic failure, liver transplantation
MeSH terms: Case Reports

Cerebral injury may persist and brain death may occur following an emergency liver transplantation (LT) for fulminant hepatic failure (FHF) even if the graft functions well. We herein present two patients developing brain death following emergency LT for FHF.
How to cite this article:
Akoglu M, Sürmelioglu A, Ozer I, Ercan M, Ulas M, Akdogan M, Bostanci EB. Brain Death after Liver Transplantation for Fulminant Hepatic Failure: A Report of Two Cases. Euroasian J Hepato-Gastroenterol 2015;5(1):62-64.
Case report: Clinical lycanthropy in Huntington's disease
Authors: Nick Medford, Natasha Sigala
Journal: Front Psychiatry (2023)
Keywords: huntington's disease, delusions, intermetamorphosis, lycanthropy, psychosis, werewolf, zoanthropy
MeSH terms: Case Reports

We describe the case of a patient diagnosed with Huntington's disease (HD), who, following a two-year history of anxiety with obsessional preoccupations, developed psychosis with clinical lycanthropy: a prominent delusional idea that he was a werewolf. Although there was no benefit from various antidepressants and antipsychotics, there was remarkable improvement of his symptoms following prescription of Clozapine. His choreiform movement disorder also improved as his mental state settled. Although some reported cases of clinical lycanthropy are related to neurological conditions, this is the first case in a patient with HD. We also discuss the relevance of cultural and personal factors in the expression of a delusion that incorporates disgust, and the potential role of somatosensory aberrations and misidentification of self.
Acute Cholecystitis-like Presentation in an Adult Patient with Gallbladder Agenesis: Case Report and Literature Review
Authors: Nahla Elzubeir, Kevin Nguyen, Muhammad Nazim
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction:
Gallbladder agenesis (GA) is a rare congenital malformation, and majority are asymptomatic; however, symptomatic patients present with a clinical picture similar to biliary colic. Work up usually shows contracted gallbladder (GB) on ultrasound (US), and HIDA scan shows nonvisualization. Magnetic resonance cholangiopancreatography (MRCP) can be helpful in the diagnosis; however, the diagnosis without the latter can only be established intraoperatively. Management should be conservative treatment with antispasmodic drugs. Case Report. A 35-year-old female presented to the emergency department with nausea, vomiting, and worsening right upper quadrant (RUQ) abdominal pain. Vitals and laboratory values were unremarkable except for mild leukocytosis, and RUQ US reported "contracted GB, cholelithiasis, 4.2 mm wall thickness, and no ductal dilation." Surgical consultation was prompted by the diagnosis of acute cholecystitis. The patient was transferred to the operating room for laparoscopic cholecystectomy; however, no GB was found, which was confirmed by intraoperative indocyanine green cholangiography. The procedure was aborted. Postoperatively, CT scan showed absent GB. A HIDA scan showed nonvisualization of the GB after 4 hours. Gastroenterology consultation was suggested to assess for peptic ulcer disease, stricture, or other etiology for her presenting symptoms, and the upper endoscopy showed gastritis. Upper GI with small bowel follow-through study showed mild delayed gastric emptying and contrast in the colon in 45 minutes.
Conclusion:
When US imaging findings are equivocal for nonvisualization of GB in a patient with no known history of prior cholecystectomy, additional imaging is required considering the diagnosis of gallbladder agenesis. MRCP is the test of choice. Management is usually conservative with smooth muscle relaxants without the need for surgical operation.
Confidentiality and treatment decisions of minor clients: a health professional's dilemma & policy makers challenge
Authors: Margot Karen Jackson, Katharina Kovacs Burns, Magdalena S Richter
Journal: Springerplus (2014)

Issues relating to confidentiality and consent for physical and mental health treatment with minor clients can pose challenges health care providers. Decisions need to be made regarding these issues despite the absence of clear, direct, or comprehensive policies and legislation. In order to fully understand the scope of this topic, a systemic review of several pieces of legislation and guidelines related to this topic are examined. These include the: Canadian Human Rights Act, Children's Rights: International and National Laws and Practices, Health Information Act, Gillick Competence and Medical Emancipation, Freedom of Information and Protection of Privacy Act, Child, Youth and Family Enhancement Act, Common Law Mature Minor Doctrine, and Alberta Health Services Consent to Treatment/Practice(s) Minor/Mature Minor. In order to assist health professionals with decisions regarding confidentiality and treatment with minor clients a case study and guide for decision-making is also presented.
Breast Abscessed Cancer in Nonlactating Women in Tropical Environment: Radiological, Bacteriological, and Anatomopathological Features about 3 Cases
Authors: Mazamaesso Tchaou, Tchin Darre, Ayi Kossi Amavi, Kokou Kouliwa Kanassoua, Bidamin N'Timon, Lantam Sonhaye, Lama-Kegdigoma Agoda-Koussema, Komlavi Adjenou
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

The association of breast cancer and abscess is rare in daily practice. The authors report a short series of 3 cases of cancer of the breast in nonlactating women presented as breast abscess, reviewing aspects in radiology (ultrasound and mammography), correlating them with the histopathology findings and the bacteriological profile of the isolated germs.
Selective endothelial removal: A case series of a phase I/II surgical trial with long-term follow up
Authors: Yu-Chi Liu, Yu Qiang Soh, Viridiana Kocaba, Jodhbir S Mehta
Journal: Front Med (Lausanne) (2022)
Keywords: peters anomaly, cornea, endothelium, keratoplasty, regenerative medicine

Peters anomaly is a congenital condition which results in a central corneal opacity from birth. Selective Endothelial Removal (SER) is a novel surgical technique and a form of regenerative therapy, which encourages clearance of the central corneal opacity by the patient's own corneal endothelial cells, and it may potentially be beneficial for the treatment of Peters anomaly. We have performed a phase I/II surgical trial, evaluating the safety of SER in four eyes (three patients) with Peters Anomaly. These patients underwent SER at between 9 and 39 months of age, each demonstrating clearance of central corneal opacities and improvements in vision post-operatively. No complications occurred in any of these eyes, at a minimal post-operative follow-up duration of 48 months. We conclude that SER for Peters anomaly is a safe surgical procedure. While encouraging efficacy outcomes have been observed, these findings should be further evaluated in a larger scale Phase II/III surgical trial.
Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis
Authors: Jingmei Ma, David S Cram, Jianguang Zhang, Ling Shang, Huixia Yang, Hong Pan
Journal: Mol Cytogenet (2015)
Keywords: fluorescent in situ hybridization, isodisomy 9, karyotyping, noninvasive prenatal testing, prenatal diagnosis, quantitative fluorescent pcr, trisomy 9 mosaicism syndrome, uniparental disomy
MeSH terms: Case Reports

Background:
Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis.
Methods:
NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin.
Results:
A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9.
Conclusion:
This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes.