OpenMed/multicare-articles huggingface dataset:
Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
Authors: Wei Xiao, Jie Feng, Hongyu Long, Bo Xiao, Zhaohui H Luo
Journal: Front Genet (2021)
Keywords: aicardi-goutières syndrome, ifih1, singleton-merten syndrome, autoimmunity, type i ifn
MeSH terms: Case Reports

The IFIH1 gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional change in a single gene can cause so many different phenotypes remain unknown. Moreover, there is significant controversy as to whether these distinct phenotypes represent the same disease continuum or mutation-specific disorders. Here, we describe the case of a patient with a novel c.1465G > T (p.Ala489Ser) mutation in the IFIH1 gene. The patient presented with spastic paraplegia, dystonia, psychomotor retardation, joint deformities, intracranial calcification, abnormal dentition, characteristic facial features, lymphadenopathy, and autoimmunity. His phenotype appeared to represent an overlap of the phenotypes for AGS and SMS. The patient also experienced unexplained pancytopenia, suggesting that the hemic system may have been affected by a gain-of-function mutation in the IFIH1 gene. In summary, we provide further evidence that SMS and AGS exhibit the same disease spectrum following a gain-of-function mutation in the IFIH1 gene. Our data highlight the genetic heterogeneity of these conditions and expand our knowledge of differential phenotypes created by IFIH1 gain-of-function mutation.
Presumed Caudal Cerebellar Artery Infarction in Three Cats: Neurological Signs, MRI Findings, and Outcome
Authors: Arianna Negrin, Olivier N J Taeymans, Sarah E Spencer, Giunio B Cherubini
Journal: Front Vet Sci (2018)
Keywords: mri, cerebellum, feline, ischemic, vascular
MeSH terms: Case Reports

Ischemic cerebrovascular disease (CVD) is a relatively common condition in dogs but infrequent in cats, with acute or peracute onset of non-progressive neurological signs. Cerebellar artery infarction appears to be very uncommon in cats, with only two cases reported affecting the rostral cerebellar artery (RCA). This study aims to report for the first time the neurological signs, magnetic resonance imaging (MRI) findings and outcome in three cats diagnosed with presumed caudal cerebellar artery (CCA) infarction. Unique presentation of vestibular signs associated with CCA in three cats and similarities between dogs and humans are discussed.
Three-dimensional and thermal surface imaging produces reliable measures of joint shape and temperature: a potential tool for quantifying arthritis
Authors: Steven J Spalding, C Kent Kwoh, Robert Boudreau, Joseph Enama, Julie Lunich, Daniel Huber, Louis Denes, Raphael Hirsch
Journal: Arthritis Res Ther (2008)
MeSH terms: Arthritis / diagnosis, Imaging, Three-Dimensional / standards, Joints, Thermography / standards, Comparative Study, Evaluation Study, Antirheumatic Agents / therapeutic use, Arthritis / drug therapy, Child, Female, Humans, Middle Aged, Reproducibility of Results, Antirheumatic Agents

Introduction:
The assessment of joints with active arthritis is a core component of widely used outcome measures. However, substantial variability exists within and across examiners in assessment of these active joint counts. Swelling and temperature changes, two qualities estimated during active joint counts, are amenable to quantification using noncontact digital imaging technologies. We sought to explore the ability of three dimensional (3D) and thermal imaging to reliably measure joint shape and temperature.
Methods:
A Minolta 910 Vivid non-contact 3D laser scanner and a Meditherm med2000 Pro Infrared camera were used to create digital representations of wrist and metacarpalphalangeal (MCP) joints. Specialized software generated 3 quantitative measures for each joint region: 1) Volume; 2) Surface Distribution Index (SDI), a marker of joint shape representing the standard deviation of vertical distances from points on the skin surface to a fixed reference plane; 3) Heat Distribution Index (HDI), representing the standard error of temperatures. Seven wrists and 6 MCP regions from 5 subjects with arthritis were used to develop and validate 3D image acquisition and processing techniques. HDI values from 18 wrist and 9 MCP regions were obtained from 17 patients with active arthritis and compared to data from 10 wrist and MCP regions from 5 controls. Standard deviation (SD), coefficient of variation (CV), and intraclass correlation coefficients (ICC) were calculated for each quantitative measure to establish their reliability. CVs for volume and SDI were <1.3% and ICCs were greater than 0.99.
Results:
Thermal measures were less reliable than 3D measures. However, significant differences were observed between control and arthritis HDI values. Two case studies of arthritic joints demonstrated quantifiable changes in swelling and temperature corresponding with changes in symptoms and physical exam findings.
Conclusion:
3D and thermal imaging provide reliable measures of joint volume, shape, and thermal patterns. Further refinement may lead to the use of these technologies to improve the assessment of disease activity in arthritis.
Treatment of Second to Third-Degree Burns in A 2-Day-Old Infant: A Case Report
Authors: Thomas Ziegler, Thomas Cakl, Johannes Schauer, Dieter Pögl, Ahmad Abdelkarim, Tomas Kempny
Journal: World J Plast Surg (2020)
Keywords: burn, newborn, infant, neonatal, repair, wound
MeSH terms: Case Reports

Burn injuries in newborns are particularly complex cases. Since these patients are rare, there is little experience and no existing standardized treatment. This report examines a case of accidental second to third-degree burning of the heel and toes on the left foot in a new-born girl. The burns covered an estimated 1% of the total body surface area (TBSA). After an initial debridement and 32 days of non-surgical wound therapy with Adaptic® fat gauze dressings, we were able to achieve an aesthetically and functionally satisfactory result including the complete preservation of all toes. Modern wound treatment following the principle of less frequent dressing changes allows the burn wound to have better re-epithelialization. New findings in stem cell research indicate that the high proportion of mesenchymal stem cells (MSC) in postnatal blood is also involved in the regeneration and healing of burns. To our knowledge, this is the first case report dealing with initial non-surgical combustion therapy in a newborn. In order to eliminate a scar contracture, we carried out a Z-plasty one year later.
Case report: Hyperactive delirium after a single dose of zolpidem administered additionally to psychopharmacotherapy including clozapine
Authors: Maximilian Preiss, Ulrich Rabl, Valentin Popper, Victoria Watzal, Michael Treiber, Dominik Ivkic, Nicole Praschak-Rieder, Angela Naderi-Heiden, Gernot Fugger, Richard Frey, Dan Rujescu, Lucie Bartova
Journal: Front Psychiatry (2023)
Keywords: anterograde amnesia, clozapine, hyperactive delirium, non-benzodiazepine, zolpidem
MeSH terms: Case Reports

The non-benzodiazepine hypnotic zolpidem is frequently administered as a short term psychopharmacotherapy for insomnia. Although it is well-established in a broad clinical routine and often well-tolerated, severe delirium and complex sleep behavior were reported in rare cases. Hereby, it remains unclear whether zolpidem's potential for delirium might be enhanced when combined with further psychopharmacotherapeutics. The present case report portrays a young male Caucasian inpatient with schizoaffective disorder, who was admitted due to severe hyperactive delirium after a single dose of zolpidem 10 mg that was administered in addition to already established psychopharmacotherapy including clozapine 200 mg/day, aripiprazole 15 mg/day and cariprazine 4.5 mg/day. In detail, disorientation, agitation, confabulations, bizarre behavior, and anterograde amnesia occurred shortly after ingestion of zolpidem and gained in intensity within a couple of hours. Once zolpidem was discontinued, the abovementioned symptoms subsided completely and did not reoccur. Since a clear temporal association could be drawn between the intake of zolpidem and the onset of hyperactive delirium, the present clinical experience should serve as a cautionary note for combining potent sedative-hypnotics and substances with anticholinergic properties, even in young adults in a good general condition. Moreover, our case argues for the necessity of further research into the pathomechanism of the interaction potential of non-benzodiazepines as zolpidem, especially with substances exerting anticholinergic properties, which are known for their potential to precipitate delirium. Therefore, the metabolic pathways of the concurrently administered substances should be further taken into account.
Emergent Minimally Invasive Esophagogastrectomy
Authors: Thomas Fabian, Dorothy Chiaravalle, Jeremiah Martin
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Introduction. Esophageal perforation in the setting of a malignancy carries a high morbidity and mortality. We describe our management of such a patient using minimally invasive approach. Methods. An 83-year-old female presented with an iatrogenic esophageal perforation during the workup of dysphagia. She was referred for surgical evaluation immediately after the event which occurred in the endoscopy suite. Minimally invasive esophagectomy was chosen to provide definitive treatment for both her malignancy and esophageal perforation. Results. Following an uncomplicated operative course, she was eventually discharged to extended care for rehabilitation and remains alive four years after her resection. Conclusion. Although traditional open techniques are the accepted gold standard of treatment for esophageal perforation, minimally invasive esophagectomy plays an important role in experienced hands and may be offered to such patients.
Ectopic Cushing's Syndrome Secondary to Metastatic Paraganglioma
Authors: R Daya, C Wingfield, P Sotshononda, F Seedat, S Bulbulia, M D Simmons, M Louw, Z Bayat
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Paraneoplastic or ectopic Cushing's syndrome (CS) is a rare cause of endogenous hypercortisolism. It is due to ectopic adrenocorticotropic hormone (ACTH) secretion and has been reported in association with a variety of neuroendocrine tumors such as small-cell lung carcinoma, carcinoid tumors, and medullary carcinoma of the thyroid. Paragangliomas (PGLs) are rare neuroendocrine tumors that can secrete catecholamines. Case reports and reports of ectopic ACTH secretion from metastatic PGLs causing CS are exceedingly rare. We present a case of a 38-year-old female, who presented with typical signs, symptoms, and complications of CS, secondary to a PGL with widespread metastases, which eventually led to her demise.
Relearning and Retaining Personally-Relevant Words using Computer-Based Flashcard Software in Primary Progressive Aphasia
Authors: William S Evans, Megan Quimby, Michael Walsh Dickey, Bradford C Dickerson
Journal: Front Hum Neurosci (2016)
Keywords: aphasia, computer-based treatment, distributed practice, primary progressive aphasia, rehabilitation, spaced retrieval

Although anomia treatments have often focused on training small sets of words in the hopes of promoting generalization to untrained items, an alternative is to directly train a larger set of words more efficiently. The current case study reports on a novel treatment for a patient with semantic variant Primary Progressive Aphasia (svPPA), in which the patient was taught to make and practice flashcards for personally-relevant words using an open-source computer program (Anki). Results show that the patient was able to relearn and retain a large subset of her studied words for up to 20 months, the full duration of the study period. At the end of treatment, she showed good retention for 139 words. While only a subset of the 591 studied overall, this is still far more words than is typically targeted in svPPA interventions. Furthermore, she showed evidence of generalization to perceptually distinct stimuli during confrontation naming and temporary gains in semantic fluency, suggesting limited gains in semantic knowledge as a result of training. This case represents a successful example of patient-centered treatment, where the patient used a computer-based intervention independently at home. It also illustrates how data captured from computer-based treatments during routine clinical care can provide valuable "practice-based evidence" for motivating further treatment research.
Iatrogenic Splenic Laceration Presenting as Syncope
Authors: Dhanalakshmi Thiyagarajan, Rebecca Jeanmonod
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Millions of colonoscopies are performed annually for routine health maintenance in the United States. Patients commonly have adverse events from colonoscopy preparation, anesthesia, and procedural complications. We report a case of syncope secondary to iatrogenic splenic laceration from colonoscopy.
Spontaneous expulsion of an intrabronchial sharp metallic foreign body and migration to the gastrointestinal tract at Muhimbili National Hospital: Case report and literature review
Authors: Zephania Saitabau Abraham, Aveline Aloyce Kahinga, Kassim Babu Mapondella, Enica Richard Massawe, Daudi Ntunaguzi
Journal: Int J Surg Case Rep (2020)
Keywords: expulsion, foreign body, intrabronchial, spontaneous, tanzania
MeSH terms: Case Reports

Introduction:
Aspirated foreign bodies continue to pose challenges to Otorhinolaryngologists and are potentially life threatening thus an otorhinolaryngological emergency. The main stay of treatment of foreign bodies (FBs) in the tracheobronchial tree remains to be bronchoscopy while bearing in mind earlier and safer removal of such foreign bodies. Spontaneous expulsion of an Intrabronchial foreign body is a rare entity with few cases reported in the available literatures.
Presentation of case:
We are reporting a rare case of a 3-year old male child who presented to otorhinolaryngology department with a 2-days history of foreign body inhalation (sharp metallic pin) prior admission which undergone spontaneous migration and went to be excreted in feaces after passing through the gastrointestinal tract.
Discussion:
It is unwise, dangerous and inadvisable to wait for spontaneous expulsion in cases of intrabronchial foreign body but while preparing for endoscopy, a constant watch should be kept over the patient and every forceful bout of cough should be looked with suspicion of spontaneous expulsion and a danger of foreign body lodgment into subglottis during such rare but possible occurrence should be kept in mind.
Conclusion:
It's always worth to rule out the possibility of foreign body inhalation in children with sudden onset of difficulty in breathing to avoid diagnostic delays.
Case Report: Cardiac Involvement by Lymphoma: Rare but Heterogeneous Condition With Challenging Behaviors
Authors: Elisa Lucchini, Marco Merlo, Mario Ballerini, Aldostefano Porcari, Gianfranco Sinagra, Lorenzo Pagnan, Marco Rensi, Andrea Romano, Rossana Bussani, Laura Ballotta, Francesco Zaja
Journal: Front Oncol (2021)
Keywords: mri, pet/ct (18)f-fdg, central nervous system relapse/progression, diffuse large b cell lymphoma, heart involvement, lymphoma, marginal zone lymphoma, primary cardiac lymphoma
MeSH terms: Case Reports

Cardiac lymphomas are rare extranodal lymphomas involving primarily and secondarily the heart and/or pericardium. Here we describe three cases of cardiac involvement from lymphoma with specific peculiarities: two primary cardiac Diffuse Large B-cell Lymphomas and one secondary involvement from Marginal Zone Lymphoma (MZL). The first case highlights the issue of early CNS relapse and the possible role for CNS prophylaxis; the second case demonstrates the difficulties of interpretation and possible mistakes of different radiologic techniques adopted to evaluate cardiac involvement by lymphoma during follow-up; the third is a unique case of MZL with cardiac involvement. Our aim is to share the findings observed in these cases putting them in relation with data from the literature.
Anasarca as a manifestation of childhood volvulus: Diagnostic and management challenges in an 11-year old Nigerian boy
Authors: Adefunke Olarinre Babatola, Joshua Taye Ige, Adewuyi Temidayo Adeniyi, Ibukun Anuoluwa Abidoye, Olarewaju Joseph, Joshua Olorunfunmi, Benjamin Folorunsho Ilori, Akinwumi Kolawole Komolafe, Oladele Simeon Olatunya
Journal: Caspian J Intern Med (2023)
Keywords: anasarca, nigerian boy, small intestine volvulus
MeSH terms: Case Reports

Background:
Small intestine volvulus occurs more commonly among younger children. It often poses diagnostic challenges when it occurs in older children and adults. For good clinical outcomes, it is essential to have prompt presentation, diagnosis and early intervention. Anasarca is not a common clinical manifestation of small intestine volvulus.
Case presentation:
We report this unusual presentation of small intestine volvulus in an 11-year old Nigerian boy who first presented only with anasarca. While being investigated for the cause of the anasarca, he developed features of acute abdomen thought to be spontaneous bacteria peritonitis initially. He had surgery where the diagnosis of small intestine volvulus was made.
Conclusion:
The diagnosis and management of both anasarca and small intestine volvulus could be fraught with challenges. It is possible that anasarca can be the first manifestation of small intestine volvulus.
COVID-19 mimics endemic tropical diseases at an early stage: a report of two symptomatic COVID-19 patients treated in a polymerase chain reaction void zone in Cameroon
Authors: Franklin Mogo Kom, Martin Paul Baane, Marius Mbody, Moussa Abame Sanda, Bi Ndongo Bilong, Francis Ateba Ndongo, Jean-Marc Mben Ii
Journal: Pan Afr Med J (2020)
Keywords: covid-19 infection, health personnel, endemic tropical infections, fatigue, quinine salts
MeSH terms: COVID-19 / diagnosis, COVID-19 Testing, Malaria / diagnosis, Case Reports, Antimalarials / administration & dosage, COVID-19 / physiopathology, Cameroon, Fatigue / etiology, Humans, Male, Middle Aged, Polymerase Chain Reaction, Quinine / administration & dosage, Antimalarials, Quinine

At the end of December 2019, they emerged a new coronavirus (SARS-CoV-2), triggering a pandemic of an acute respiratory syndrome (COVID-19) in humans. We report the relevant features of the first two confirmed cases of COVID-19 recorded from the 29th April 2020 in the Far North Region of Cameroon. We did a review of the files of these two patients who were admitted to the internal medicine ward of a medical Centre in Maroua Town, Far North Region. We present 2 cases of symptomatic COVID-19 patients, both males and health personnel, with an average age of 53 years, with no recent history of travel to a COVID-19 zone at risk and working in a then COVID-19 free region. They presented with extreme fatigue as their main symptom. Both were treated initially for severe malaria with quinine sulfate infusion with initial relief of symptoms. In the first confirmed case, at his re-hospitalization with an acute respiratory syndrome, a polymerase chain reaction (PCR) test in search of SARS-CoV-2 was requested with his results available 7 days into admission. For the second case, he had his results 48 hours on admission while he was prepared to be discharged. Both control PCR tests for COVID-19 came back negative 14 days after hospitalization. Health personnel remains a group at risk for the COVID-19 infection. The clinical manifestation at an early stage may be atypical mimicking endemic tropical infections. Also, the therapeutic potential of quinine salts in the relief of symptoms of COVID-19 is questionable and remains a subject to explore in our context.
Massively distended, necrotic and hemorrhagic gallbladder in a long-term octreotide-treated patient with added everolimus
Authors: Eric Bergeron, Michael Bensoussan
Journal: Int J Surg Case Rep (2019)
Keywords: carcinoid cancer, cholecystitis, cholelithiasis, everolimus, octreotide

Introduction:
Long-term treatment with somatostatin analogs, such as octreotide, is well known to promote gallstones formation. Immunosuppressive therapy in renal transplantation is also associated with increased occurrence of gallstones. But acute cholecystitis develops only in a few cholelithiasis patients. However, it is not known whether long-term somatostatin analog therapy and immunosuppressants aggravate the severity of disease if the patient develops cholecystitis.
Case presentation:
We present a case of severe cholecystitis in a patient with metastatic carcinoid cancer on octreotide long-acting release therapy for seven years with newly added immunosuppressant, everolimus.
Discussion:
Cholelithiasis as well as cholecystitis develop more often in patients on somatostatin analogs and immunosuppressants than in general population. However, morbidity remains negligible.
Conclusion:
No conclusion can be drawn on the contribution of somatostatin analogs and immunosuppressant in the occurrence of severe cholecystitis. Prophylactic cholecystectomy is not indicated in patients with this medication.
Chronic Myeloid Leukemia with an e6a2 BCR-ABL1 Fusion Transcript: Cooperating Mutations at Blast Crisis and Molecular Monitoring
Authors: Mireille Crampe, Karl Haslam, Emma Groarke, Eileen Kelleher, Derville O'Shea, Eibhlin Conneally, Stephen E Langabeer
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

A minority of chronic myeloid leukemia patients (CML) express a variety of atypical BCR-ABL1 fusion variants and, of these, the e6a2 BCR-ABL1 fusion is generally associated with an aggressive disease course. Progression of CML to blast crisis is associated with acquisition of additional somatic mutations yet these events have not been elucidated in patients with the e6a2 BCR-ABL1 genotype. Moreover, molecular monitoring is only sporadically performed in CML patients with atypical BCR-ABL1 fusion transcripts due to lack of consensus approaches or standardization. A case of CML is described in which comprehensive molecular analysis, including targeted next-generation sequencing, revealed a single ASXL1 mutation cooperating with an e6a2 BCR-ABL1 fusion transcript at blast crisis. A quantitative molecular monitoring approach was devised and adopted that reflected the disease response from initial treatment through allogeneic stem cell transplantation which resulted in undetectable e6a2 BCR-ABL1 transcripts. This case emphasizes the requirement for molecular monitoring in CML patients with atypical BCR-ABL1 fusion transcripts and emphasizes that comprehensive sequencing has the potential to identify targets for novel therapies in CML patients with advanced disease.