OpenMed/multicare-articles huggingface dataset:
Flying under the radar: figurative language impairments in focal lesion patients
Authors: Geena R Ianni, Eileen R Cardillo, Marguerite McQuire, Anjan Chatterjee
Journal: Front Hum Neurosci (2014)
Keywords: aphasia, case study, figurative language, focal lesion patients, metaphor, sentence comprehension

Despite the prevalent and natural use of metaphor in everyday language, the neural basis of this powerful communication device remains poorly understood. Early studies of brain-injured patients suggested the right hemisphere plays a critical role in metaphor comprehension, but more recent patient and neuroimaging studies do not consistently support this hypothesis. One explanation for this discrepancy is the challenge in designing optimal tasks for brain-injured populations. As traditional aphasia assessments do not assess figurative language comprehension, we designed a new metaphor comprehension task to consider whether impaired metaphor processing is missed by standard clinical assessments. Stimuli consisted of 60 pairs of moderately familiar metaphors and closely matched literal sentences. Sentences were presented visually in a randomized order, followed by four adjective-noun answer choices (target + three foil types). Participants were instructed to select the phrase that best matched the meaning of the sentence. We report the performance of three focal lesion patients and a group of 12 healthy, older controls. Controls performed near ceiling in both conditions, with slightly more accurate performance on literal than metaphoric sentences. While the Western Aphasia Battery (Kertesz, 1982) and the objects and actions naming battery (Druks and Masterson, 2000) indicated minimal to no language difficulty, our metaphor comprehension task indicated three different profiles of metaphor comprehension impairment in the patients' performance. Single case statistics revealed comparable impairment on metaphoric and literal sentences, disproportionately greater impairment on metaphors than literal sentences, and selective impairment on metaphors. We conclude our task reveals that patients can have selective metaphor comprehension deficits. These deficits are not captured by traditional neuropsychological language assessments, suggesting overlooked communication difficulties.
Acute Brucellosis Presenting as an Autoimmune Hemolytic Anemia
Authors: Durga Shankar Meena, Vikram Singh Sonwal, Amit Kumar Rohila, Vasudha Meena
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Brucellosis is one of the most widespread zoonosis in the world. Hematological complications in brucellosis usually present as mild anemia, leukopenia, or pancytopenia. Autoimmune hemolytic anemia in brucellosis is rarely reported. Here, we report an 18-year-old female presented to us with progressive fatigue, jaundice, and fever. Hematological investigations revealed hemolytic anemia. Direct Coombs test was positive. Further evaluation showed positive serology and culture for Brucella. The patient was diagnosed with brucellosis with autoimmune hemolytic anemia. She was put on rifampicin and doxycycline along with corticosteroids. After 6 weeks, the patient was symptomatically improved with complete remission of hemolytic anemia. The possibility of brucellosis should be considered as a differential diagnosis of autoimmune hemolytic anemia, especially those living in the endemic areas.
Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage
Authors: Areej Alam, Mehreen Adhi, Raffat Bano, Aisha Zubair, Ammara Mushtaq
Journal: Pak J Med Sci (2013)
Keywords: dysencephalia splanchnicocystica, meckel gruber syndrome
MeSH terms: Case Reports

Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.
High Risk Features of an Anomalous Origin of the Right Coronary Artery
Authors: Dre Eleonore Campiche, Jean-Paul Vallée, David Carballo
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Anomalous aortic origin of the coronary arteries (AAOCA) is a rare congenital abnormality. It is usually asymptomatic and often found incidentally during coronary angiography. However, it can also be discovered during the autopsy of young healthy adults who have suffered from sudden cardiac death (SCD). AAOCA represents the second most common cause of SCD in young athletes. Herein, we report a case of a 39-year-old patient with left-sided right coronary anomaly with multiple high-risk features who presented with life-threatening symptoms for SCD but normal electrocardiography, echocardiography, and cardiac markers. The coronary computed tomography revealed an anomalous coronary artery from the left sinus of Valsalva with a hypoplasic origin and a high-risk path between the aorta and the pulmonary artery with a short intramural path. He was surgically managed with a coronary artery bypass with an uneventful follow-up.
Maxillary protraction and vertical control utilizing skeletal anchorage for midfacial-maxillary deficiency
Authors: Kensuke Matsumoto, Nipul Tanna
Journal: Dental Press J Orthod (2021)
MeSH terms: Malocclusion, Angle Class III / diagnostic imaging, Malocclusion, Angle Class III / therapy, Orthodontic Anchorage Procedures, Case Reports, Adolescent, Adult, Cephalometry, Female, Humans, Incisor, Infant, Mandible, Maxilla / diagnostic imaging, Orthodontic Appliance Design

Introduction:
The efficacy and efficiency of early treatment of skeletal Class III patients with facemask therapy are well-documented; however, very few cases for adolescents or adults were reported.
Objective:
The aim of this case report was to demonstrate skeletal and dental correction of a post-pubertal-growth-spurt patient whose malocclusion consisted of a skeletal Class III with slight transverse deficiency, a high mandibular plane angle, and a retrusive maxillary complex.
Case report:
A 13-year-5-months old Hispanic female was diagnosed as a retrognathic maxilla and mandible, a high mandibular plane angle, open bite pattern, a bilateral Angle Class I molar relationship with an anterior crossbite on the maxillary lateral incisors. A TAD-supported Haas rapid palatal expander was utilized for maxillary protraction combined with a facemask, vertical control, and maxillary molar distalization with fixed appliance.
Results:
The total treatment time was 26 months. An improved facial profile with maxillary lip support and more prominent cheeks was established. Adequate vertical control prevented a change in the mandibular plane angle even though facemask treatment can increase the vertical dimension. After the 18-month retention, excellent stability of the treatment results was shown.
Conclusion:
With skeletal anchorage and facemask treatment, orthodontists have the ability of expanding and protracting the maxilla without tipping maxillary molars buccally and without the risk of unfavorable periodontal consequences. A TAD-supported Haas rapid palatal expander allowed to control the vertical dimension and distalize molars, while minimizing undesired consequences.
A Case of Chronic Wernicke's Encephalopathy: A Neuropsychological Study
Authors: Erik Oudman, Stefan Van der Stigchel, Albert Postma, Jan W Wijnia, Tanja C W Nijboer
Journal: Front Psychiatry (2014)
Keywords: korsakoff’s syndrome, wernicke’s encephalopathy, amnestic, cognitive disorders, confusion, delirium, dementia, thiamine

A 54-year-old woman was referred to our Korsakoff Center because of extensive cognitive problems following acute Wernicke's encephalopathy (WE). She had a relatively short history of alcohol abuse and was found lying on the floor in her home by her son. After 5 days without treatment, she was diagnosed with WE in a general hospital. During the course of the disease, minimal change to the acute situation occurred, with chronic confusion, attention deficits, and incoherent behavior symptoms most notable unlike classical Korsakoff's syndrome. Neuropsychological assessment after 4 and 16 months after admission to the hospital revealed global cognitive decline, with striking impairments in attentional, executive, and memory functions. The present case study suggests that the state of confusion and the neuropsychological symptoms in WE can become chronic in case of very late treatment. We therefore recommend that confused alcoholics should receive appropriate parenteral thiamine according to the current clinical standards.
Children with trisomy 21 are a group at risk for severe COVID-19: Case reports from a COVID-19 treatment unit in Addis Ababa, Ethiopia
Authors: Tinsae Alemayehu, Danilo Buonsenso
Journal: Front Pediatr (2022)
Keywords: covid-19, down syndrome, sars cov-2, children, low and middle income countries
MeSH terms: Case Reports

Trisomy 21 (Down syndrome) is a chromosomal disorder associated with humoral and cellular immunologic impairments among other systemic manifestations. It occurs at a frequency of 1 in 750 live births. There are increasing reports of children with Down syndrome presenting signs of severe COVID-19. The literature from Africa on pediatric COVID-19 and risk stratification for severe disease is scant. A summary of the clinical features, complications, and treatment outcomes of three Ethiopian children with Trisomy 21 and severe COVID-19 along with a discussion of the correlation between trisomy 21 immunology and severe SARS CoV-2 infection is presented.
Diagnostic pitfall of a rare variant of angiomyolipoma, epithelioid angiomyolipoma - a case report
Authors: Michael Leonard Anthony, Prashant Durgapal, Prashant Joshi, Ankur Mittal, Rishabh Sahai, Sanjeev Kishore, Ashok Singh
Journal: Pan Afr Med J (2020)
Keywords: epithelioid cells, pecoma, perivascular, renal cell carcinoma
MeSH terms: Angiomyolipoma / diagnosis, Carcinoma, Renal Cell / diagnosis, Kidney Neoplasms / diagnosis, Nephrectomy / methods, Case Reports, Adult, Angiomyolipoma / pathology, Angiomyolipoma / surgery, Biopsy, Diagnostic Errors, Female, Humans, Tomography, X-Ray Computed

Angiomyolipoma of the kidney is a common benign mesenchymal neoplasm of kidney. A rare variant, epithelioid angiomyolipoma, however, may show malignant behavior. We report a case of epithelioid angiomyolipoma in a patient not having tuberous sclerosis which was initially misdiagnosed as renal cell carcinoma. A 39-year-old woman presented with a history of flank pain. Ultrasonography revealed a left renal mass. Contrast-enhanced computed tomography (CECT) abdomen revealed mass involving hilum of the kidney. On core biopsy a possibility of renal cell carcinoma was suggested. The patient underwent radical nephrectomy. After immunohistochemical analysis, a final diagnosis of epithelioid angiomyolipoma was made. Renal epithelioid angiomyolipoma without adipocytic component is extremely rare. It is pivotal to keep a possibility of epithelioid angiomyolipoma whenever an epithelioid renal tumor is encountered showing marked pleomorphism and mitosis. The use of melanocytic markers and specific markers of renal cell carcinoma will aid the diagnosis.
Case report: Application of nirmatrelvir/ritonavir to treat COVID-19 in a severe aplastic anemia child after allogeneic hematopoietic stem cell transplantation
Authors: Jinhua Huang, Di Yin, Xia Qin, Mei Yu, Beilei Jiang, Jing Chen, Qing Cao, Zhiguo Tang
Journal: Front Pediatr (2022)
Keywords: covid-19, omicron, paxlovid, children, severe aplastic anemia, transplantation
MeSH terms: Case Reports

We present a case report of successful treatment with nirmatrelvir/ritonavir (Paxlvoid) for a severe aplastic anemia child with COVID-19, cytopenia, and mixed chimerism of donor hematopoietic cells at 3 months after allogeneic hematopoietic stem cell transplantation. After the 5-day entire course of treatment, the clinical symptoms were relieved, cycle threshold values of ORF1a/b and N genes increased from 22.60 and 22.15 to 34.52 and 33.84, respectively, and the peripheral blood counts gradually recovered without graft failure. Nirmatrelvir/ritonavir can effectively inhibit the replication of SARS-CoV-2 without any significant adverse effects.
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China
Authors: Lixin Xie, Xiaoxiang Hu, Yang Li, Weihua Zhang, Liang'an Chen
Journal: Clin Dev Immunol (2010)
MeSH terms: Job Syndrome / genetics, Mutation / genetics, Pneumonia, Staphylococcal / genetics, STAT3 Transcription Factor / genetics, Staphylococcus aureus / immunology, Case Reports, China, DNA Mutational Analysis, Eczema, Humans, Immunoglobulin E / blood, Job Syndrome / blood, Job Syndrome / complications, Job Syndrome / diagnosis, Job Syndrome / physiopathology, Lung / abnormalities, Lung / diagnostic imaging, Lung / microbiology, Lung / surgery, Male, Pedigree, Pneumonia, Staphylococcal / blood, Pneumonia, Staphylococcal / diagnosis, Pneumonia, Staphylococcal / etiology, Pneumonia, Staphylococcal / physiopathology, STAT3 Transcription Factor / biosynthesis, Staphylococcus aureus / pathogenicity, Tomography, X-Ray Computed, Young Adult, STAT3 Transcription Factor, Immunoglobulin E

Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.
Pancreatic tuberculosis or autoimmune pancreatitis
Authors: Ayesha Salahuddin, Muhammad Wasif Saif
Journal: Case Rep Med (2014)

Introduction. Isolated pancreatic and peripancreatic tuberculosis is a challenging diagnosis due to its rarity and variable presentation. Pancreatic tuberculosis can mimic pancreatic carcinoma. Similarly, autoimmune pancreatitis can appear as a focal lesion resembling pancreatic malignancy. Endoscopic ultrasound-guided fine needle aspiration provides an effective tool for differentiating between benign and malignant pancreatic lesions. The immune processes involved in immunoglobulin G4 related systemic diseases and tuberculosis appear to have some similarities. Case Report. We report a case of a 59-year-old Southeast Asian male who presented with fever, weight loss, and obstructive jaundice. CT scan revealed pancreatic mass and enlarged peripancreatic lymph nodes. Endoscopic ultrasound-guided fine needle aspiration confirmed the presence of mycobacterium tuberculosis. Patient also had high immunoglobulin G4 levels suggestive of autoimmune pancreatitis. He was started on antituberculosis medications and steroids. Clinically, he responded to treatment. Follow-up imaging showed findings suggestive of chronic pancreatitis. Discussion. Pancreatic tuberculosis and autoimmune pancreatitis can mimic pancreatic malignancy. Accurate diagnosis is imperative as unnecessary surgical intervention can be avoided. Endoscopic ultrasound-guided fine needle aspiration seems to be the diagnostic test of choice for pancreatic masses. Long-term follow-up is warranted in cases of chronic pancreatitis.
Adverse Drug Reactions After Administration of Emodepside/Praziquantel (Profender®) in an MDR1-Mutant Australian Shepherd Dog: Case Report
Authors: Daniela Gaens, Carola Leithäuser, Melanie Hamann, Joachim Geyer
Journal: Front Vet Sci (2019)
Keywords: mdr1 (abcb1) gene, mdr1 mutation, profender, adverse drug reaction, dog, drug intolerance, emodepside, neurological toxicity
MeSH terms: Case Reports

A 3-year-old male Australian Shepherd was presented with signs of neurological toxicity following the administration of Profender® at the recommended dosage. Unfortunately, the owner had received the product from a veterinarian without any further instructions on fasting as recommended by the manufacturer, so the dog was fed prior to Profender® administration. Neurological toxicity included generalized tremor, agitation and panting, and required hospitalization of the dog. All neurological signs resolved after symptomatic treatment within 24 h and the dog was discharged without the need for further medication. MDR1 genotyping revealed a homozygous mutation of the MDR1 gene, which is normally important to prevent brain penetration of emodepside by an efflux-based transport mechanism at the blood brain barrier. This case indicates that Profender® can lead to serious, but transient neurological toxicity in dogs with homozygous MDR1 mutation even at therapeutic dosage, in particular when fasting recommendations are disregarded. Therefore, the case report highlights both the importance of MDR1 genotyping in predisposed dog breeds as well as strict compliance with fasting recommendations around the time of Profender® administration.
Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations
Authors: Chiara Mele, Monica Mencarelli, Marina Caputo, Stefania Mai, Loredana Pagano, Gianluca Aimaretti, Massimo Scacchi, Alberto Falchetti, Paolo Marzullo
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: men1, genotype, mutations, phenotype, tumors
MeSH terms: Genetic Association Studies / methods, Multiple Endocrine Neoplasia Type 1 / genetics, Multiple Endocrine Neoplasia Type 1 / pathology, Mutation, Proto-Oncogene Proteins / genetics, Review, Humans, MEN1 protein, human, Proto-Oncogene Proteins

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited tumor syndrome, associated with parathyroid, pituitary, and gastro-entero-pancreatic (GEP) neuroendocrine tumors (NETs). MEN1 is usually consequent to different germline and somatic mutations of the MEN1 tumor suppressor gene, although phenocopies have also been reported. This review analyzed main biomedical databases searching for reports on MEN1 gene mutations and focused on aggressive and aberrant clinical manifestations to investigate the potential genotype-phenotype correlation. Despite efforts made by several groups, this link remains elusive to date and evidence that aggressive or aberrant clinical phenotypes may be related to specific mutations has been provided by case reports and small groups of MEN1 patients or families. In such context, a higher risk of aggressive tumor phenotypes has been described in relation to frameshift and non-sense mutations, and predominantly associated with aggressive GEP NETs, particularly pancreatic NETs. In our experience a novel heterozygous missense mutation at c.836C>A in exon 6 was noticed in a MEN1 patient operated for macro-prolactinoma, who progressively developed recurrent parathyroid adenomas, expanding gastrinomas and, long after the first MEN1 manifestation, a neuroendocrine uterine carcinoma. In conclusion, proof of genotype-phenotype correlation is limited but current evidence hints at the need for long-term interdisciplinary surveillance in patients with aggressive phenotypes and genetically confirmed MEN1.
Bilateral Thoracic Outlet Syndrome from Anomalous 8th Cervical Vertebrae Ribs
Authors: Scott Ferris, Sarah Lonie
Journal: J Brachial Plex Peripher Nerve Inj (2022)
Keywords: brachial plexus, cervical rib, eighth cervical vertebra, thoracic outlet syndrome
MeSH terms: Case Reports

Thoracic outlet syndrome (TOS) is a group of diverse disorders resulting from compression of neurovascular structures as they pass from the lower neck to upper limb. Neurological symptoms, such as pain, weakness, or paraesthesia, are much more common than vascular symptoms such as pallor or venous congestion. Anatomical abnormalities can contribute to this condition. Thirty percent of patients with TOS can have a cervical rib, arising from the transverse process of the 7th cervical vertebra, compared with 1% of the general population. We report the first case in the literature of neurogenic TOS from a cervical rib arising from a supernumerary 8th cervical vertebra. This patient had immediate improvement in TOS symptoms following scalene muscle surgery and resection of cervical and first thoracic ribs.
An Unusual Presentation of Ludwig's Angina Complicated by Cervical Necrotizing Fasciitis: A Case Report and Review of the Literature
Authors: Kristelle Chueng, David J Clinkard, Danny Enepekides, Yousef Peerbaye, Vincent Y W Lin
Journal: Case Rep Otolaryngol (2012)

Ludwig's angina can seldom be complicated by necrotizing fasciitis. Due to the rapidly progressing nature of this infection and the potential for airway compromise and death, it is important to be aware of different ways in which this disease process can present in order to recognize and treat it emergently. We report here an unusual presentation of a case of Ludwig's angina complicated by necrotizing fasciitis in an elderly patient. The clinical features, diagnosis, and treatment are discussed in detail as well as a brief literature review on craniocervical necrotizing fasciitis.
Lingual juvenile xanthogranuloma in a woman: a case report
Authors: Alessandro Villa, Umberto Mariani, Francesco Villa
Journal: J Med Case Rep (2011)

Introduction:
Juvenile xanthogranuloma is a rare non-Langerhans cell histiocytosis that usually occurs during infancy and early childhood. The presence of single or multiple raised cutaneous lesions characterize this self-healing disorder. Extracutaneous sites are rare.
Case presentation:
We present a rare case of oral juvenile xanthogranuloma in a 49-year-old Caucasian woman. The histopathologic diagnosis of the lingual neoformation was histiocitary proliferation with the presence of giant cells, Touton type, compatible with juvenile xanthogranuloma.
Conclusion:
To establish an accurate diagnosis, microscopic evaluation and immunohistochemical staining are necessary. Dentists, dermatologists and general practitioners may be the first to recognize this rare condition during the inspection of the oral cavity.
A Novel Technique for Bulk-Fill Resin-Based Restorations: Achieving Function and Esthetics in Posterior Teeth
Authors: Gerardo Durán Ojeda, Ismael Henríquez Gutiérrez, José Pablo Tisi, Abelardo Báez Rosales
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Advances in the mechanical properties of composite resins have allowed for their use in posterior teeth. Conventional resins have several problems associated with polymerization shrinkage stress. The development of "bulk-fill" resins has allowed for their use in single increments up to depths of 4 mm, with very low polymerization shrinkage stress. Nevertheless, differences in anatomy and the desire for optimal esthetics present unique difficulties. This article describes a step-by-step technique using flowable bulk-fill resin as a substitute for dentin in a single increment, together with a high-reflective-index resin to restore enamel and decrease clinical time, obtaining anatomically and esthetically acceptable results without detriment to the mechanical properties required to restore the functionality of the posterior teeth.