OpenMed/multicare-articles huggingface dataset:
First report of a carbapenemase OXA-48-producing Hafnia alvei clinical isolate
Authors: Laura Sevillano, Cristhian Herrera, Álvaro Valdes, Ángela de la Hoz, Laura Cardeñoso, Diego Domingo, Maria Auxiliadora Semiglia
Journal: Access Microbiol (2023)
Keywords: hafnia alvei, oxa-48, carbapenem, carbapenemase
MeSH terms: Case Reports

Introduction:
Carbapenems are usually used in the treatment of infections caused by cephalosporin-resistant Enterobacterales ; however, the increase in carbapenem-resistant Enterobacterales (CRE) has become one of the most important problems in public health. Hafnia alvei is associated with intestinal and extraintestinal infections, especially in patients with any chronic disease or some type of immunosupression. H. alvei is resistant to first-generation aminopenicillins and cephalosporins owing to the β-lactamase (Amp C) in their chromosome; the only carbapenem-resistant Hafnia strain described until now was due to a lack of the OmpK36 protein that plays an important role in permeability to carbapenems.
Case presentation:
We present the case of a 65-year-old male diagnosed with acute lithiasic cholecystitis. Culture of the biliary prosthesis yielded a OXA-48-producing H. alvei that was identified by MALDI-TOF (matrix-assisted laser desorption/ionization-time of flight) MS. Carbapenemase production was detected by immunochromatography and confirmed by sequencing.
Conclusion:
To our knowledge, this is the first report of OXA-48-producing H. alvei probably obtained by horizontal transfer from Enterobacter cloacae OXA-48 isolated in previous samples.
Autologous Deciduous Tooth-Derived Material for Alveolar Ridge Preservation: A Clinical and Histological Case Report
Authors: Elio Minetti, Silvio Taschieri, Stefano Corbella
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

The management of the alveolar socket is fundamental to create conditions that would allow the positioning of dental implants in the same site, when required. A number of biomaterials were described in scientific literature to be used for alveolar socket preservation immediately after tooth extraction: autogenous grafts, allograft (of various origin), and synthetic products. Among the autogenous biomaterials, some authors proposed the use of autogenous dentin and/or enamel, retrieved from teeth, adequately managed, and purified. The present case report with two-year follow-up shows one case of alveolar socket preservation by using tooth graft material that was subsequently treated with one implant-supported rehabilitation in the same site. The paper presents clinical and histological outcomes and confirms the feasibility of adopting such autogenous biomaterial in standard procedures.
Hydrocephalus As Possible Prodromal Manifestation of COVID-19: A Report of Two Cases
Authors: Giovanni Torelli, Rocco Severino, Chiara Caggiano, Matteo Torelli, Luca de Martino, Giuseppe Russo
Journal: Cureus (2023)
Keywords: ace-2 receptor, altered csf dynamics, covid-19, hydrocephalus, neuro-inflammation
MeSH terms: Case Reports

Although the etiopathology of normal pressure hydrocephalus (NPH) is still not completely defined, several studies in recent years have highlighted the role of neuro-inflammation mediators in its development. During COVID-19, the infected host develops a multifaceted inflammatory syndrome, that may lead to an uncontrolled immune system response also localized in the host nervous system. In fact, the target of the viral Spike protein, the angiotensin-converting enzyme 2 (ACE2) receptors, is widely expressed in different areas of CNS such as the olfactory epithelium, and the choroid plexus. As for idiopathic NPH, the massive release of inflammatory mediators may result in altered CSF dynamics and consequent sudden clinical decompensation. We report the cases of two patients with a known iNPH condition, in which neurological symptoms suddenly worsened, requiring hospitalization, without any evident precipitating cause. Both patients tested positive for the COVID-19 virus shortly after the neurological impairment, which had occurred, therefore, during the incubation period of the infection. On the basis of our experience we advise, in cases of NPH patients with sudden neurological worsening, to perform a molecular COVID-19 swab at the moment of clinical impairment. We, therefore, recommend considering SARS-CoV-2 infection in the differential diagnosis of a sudden and otherwise unexplainable impairment of hydrocephalic patients. Furthermore, we believe clinicians should invite NPH patients to adopt adequate preventive measures to protect them from SARS-CoV-2 infection.
Diagnostic Capability of Next-Generation Sequencing Fusion Analysis in Identifying a Rare CASE of TRAF1-ALK- Associated Anaplastic Large Cell Lymphoma
Authors: Indu Agarwal, Linda Sabatini, Mir B Alikhan
Journal: Front Oncol (2020)
Keywords: alk (anaplastic lymphoma kinase), rna based sequencing, anaplastic t-cell lymphoma, lymphoma - diagnosis, next- generation sequencing
MeSH terms: Case Reports

Background: Anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) is a rare T-cell neoplasm, accounting for approximately 3% of adult non-Hodgkin lymphomas. Although NPM1 is the most common fusion partner with ALK, many others have been described, necessitating break-apart FISH studies for confirmation of the diagnosis. TNF receptor-associated factor 1 (TRAF1) is a rare ALK partner that is thought to confer a worse prognosis in patients. We describe the utility of next-generation sequencing (NGS) RNA analysis in detection of this uncommon ALK partner. Case Description: A 42-year-old male with cervical lymphadenopathy presented for excisional biopsy. Following a tissue diagnosis of ALCL, ALK+, RNA from the biopsy was extracted from Formalin-fixed paraffin-embedded (FFPE) tissue and prepared for Anchored Multiplex PCR using the Archer® FusionPlex® v2 assay, which employs unidirectional gene-specific primers using NGS to detect novel or unknown gene partners. Results: Histologic evaluation of the excised lymph node showed atypical cells, including "horseshoe/kidney"-shaped nuclei. Neoplastic cells were immunoreactive against CD30, ALK (diffuse, cytoplasmic), CD2, CD4, granzyme B, and TIA-1. A diagnosis of ALCL, ALK+ was made. The pattern of ALK immunostaining suggested a non-NPM1-associated ALK translocation pattern, prompting further investigation. NGS fusion analysis showed a translocation involving exon 7 of TRAF1 and exon 20 of ALK. Conclusion: ALK positivity suggests an overall favorable prognosis of ALCL as compared to ALK-negative cases. However, in the rare published cases of TRAF1-ALK, an aggressive clinical course has been observed, which may reflect the aggressive propensity of this particular fusion, as these cases appear to be refractory to standard chemotherapy and also to the first generation ALK inhibitors. This study highlights the advantage of using NGS in RNA-based fusion assays to detect rare translocations, which can be of some clinical importance in detecting rare but aggressive fusion partners of ALK. As these technologies become more available, there is potential to identify such changes and effectively stratify the prognosis of ALCL patients.
Radiation-Induced Leiomyosarcoma after Breast Cancer Treatment and TRAM Flap Reconstruction
Authors: M Olcina, B Merck, M J Giménez-Climent, S Almenar, M F Sancho-Merle, F Llopis, C Vázquez-Albadalejo
Journal: Sarcoma (2008)
MeSH terms: Case Reports

The development of a radiation-induced sarcoma (RIS) in the post mastectomy thoracic treatment volume is an infrequent, but recognized, event. Its frequency is rising in relation with increasing survival of breast cancer patients treated with adjuvant radiation therapy, and is associated with poor prognosis despite treatment. We present a case of leiomyosarcoma in a patient who underwent mastectomy followed by radiotherapy for invasive ductal carcinoma. A delayed TRAM flap reconstruction was performed 10 years after and a rapid growing mass under the reconstructed flap appeared, on routine follow-up, twenty years later. This report analyzes the diagnostic and therapeutic approach of patients with RIS.
Hydatid cyst disease of the lung as an unusual cause of massive hemoptysis: a case report
Authors: Celal Tekinbas, Suleyman Turedi, Abdulkadir Gunduz, M Muharrem Erol
Journal: J Med Case Rep (2009)

Introduction:
Echinococcosis and/or hydatidosis is one of the most important zoonotic diseases in the world. In Turkey, echinococcosis is an endemic disease, however, hydatid disease of the lung is uncommon and usually caused by Echinococcus granulosus.
Case presentation:
In this report we describe a 17-year-old male patient who presented with massive hemoptysis due to hydatid disease of the lung.
Conclusion:
Although it is one of the less common causes of massive hemoptysis, hydatid disease of the lung requires greater attention in countries, such as Turkey, in which hydatid cyst disease is common.
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC
Authors: Hirotsugu Oda, David B Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D Rosenzweig, Daniel L Kastner, Luigi D Notarangelo, Ivona Aksentijevich
Journal: Front Immunol (2019)
Keywords: cvid, hoil1, hoip, lubac, sharpin, autoinflammation, primary immunodeficiency
MeSH terms: Common Variable Immunodeficiency / genetics, Gene Expression Regulation, Inflammation / genetics, Polymorphism, Single Nucleotide, Transcriptome, Ubiquitin-Protein Ligases / deficiency, Case Reports, Research Support, N.I.H., Intramural, Alleles, Alternative Splicing, Child, Common Variable Immunodeficiency / diagnosis, Common Variable Immunodeficiency / immunology, Cytokines / biosynthesis, Cytokines / genetics, Exons / genetics, Female, Heterozygote, Humans, Lymphangiectasis / genetics, Lymphocyte Activation, NF-kappa B / physiology, Phenotype, RNA, Messenger / biosynthesis, RNA, Messenger / genetics, Signal Transduction, Transcription Factors / metabolism, Ubiquitin-Protein Ligases / genetics, Ubiquitin-Protein Ligases / metabolism, Ubiquitin-Protein Ligases / physiology, Ubiquitination / genetics, Ubiquitins / metabolism, Cytokines, NF-kappa B, RNA, Messenger, SHARPIN protein, human, Transcription Factors, Ubiquitins, RBCK1 protein, human, RNF31 protein, human, Ubiquitin-Protein Ligases

Background: HOIP is the catalytic subunit of the linear ubiquitination chain assembly complex (LUBAC) that is essential for NF-κB signaling and thus proper innate and adaptive immunity. To date only one patient with HOIP deficiency has been reported with clinical characteristics that include autoinflammation, immunodeficiency, amylopectinosis, and systemic lymphangiectasia. Case: We sought to identify a genetic cause of a disease for an 8 year-old girl who presented with early-onset immune deficiency and autoinflammation. Methods: Targeted next generation sequencing of 352 immune-related genes was performed. Functional studies included transcriptome analysis, cytokine profiling, and protein analysis in patients' primary cells. Results: We identified biallelic variants in close proximity to splice sites (c.1197G>C and c.1737+3A>G) in the RNF31 gene. RNA extracted from patient cells showed alternatively spliced transcripts not present in control cells. Protein expression of HOIP and LUBAC was reduced in primary cells as shown by western blotting. Patient-derived fibroblasts demonstrated attenuated IL-6 production, while PBMCs showed higher TNF production after stimulation with proinflammatory cytokines. RNA sequencing of whole blood RNA and PBMCs demonstrated a marked transcriptome wide change including differential expression of type I interferon regulated genes. Conclusion: We report the second case of HOIP deficiency with novel compound heterozygous mutations in RNF31 and distinct clinical and molecular features. Our results expand on the clinical spectrum of HOIP deficiency and molecular signatures associated with LUBAC deficiency.
Prosthetic Rehabilitation of Child Victim of Avulsion of Anterior Teeth with Orthodontic Mini-Implant
Authors: Natalice Sousa de Oliveira, Gabriella Lopes de Rezende Barbosa, Lincoln Dias Lanza, Henrique Pretti
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The treatment of choice in cases of avulsed permanent teeth is the immediate reimplantation. However, this conduct does not always work favorably, either by failures in the initial approach or by inappropriate interventions. In this sense, the aim of this study is to present an alternative prosthetic rehabilitation with the use of orthodontic mini-implants in the anterior region. This case reports a ten-year-old child with history of avulsion of superior central incisors. The therapeutic approach was planned to promote physiological teeth contacts and acceptable esthetics and phonetics. First, the occlusal-gingival insertion of two orthodontic mini-implants was performed in the alveolar ridge, and, immediately after that, two provisional crowns were attached to the implants. The interventions achieved satisfactory cosmetic and functional results. After one-year follow-up, the adjacent periodontal tissues remained without signs and/or symptoms of inflammation. The provisional crowns presented no mobility and fractures. During radiographic examination, a healthy bone tissue appearance was observed. The simplicity of mini-implant installation makes them a promising alternative for temporary prosthetic rehabilitation of patients undergoing growth and development. The technique provides positive aesthetic and functional results that may reflect on self-esteem and social inclusion of children and adolescents.
Cerebellum as Initial Site of Distant Metastasis from Papillary Carcinoma of Thyroid: Review of Three Cases
Authors: Mutahir A Tunio, Mushabbab Al Asiri, Khalid Hussain Al-Qahtani, Wafa AlShakweer
Journal: Case Rep Neurol Med (2015)

Background. The cerebellum as initial site of distant metastasis from differentiated thyroid carcinoma (DTC) including papillary (PTC) and follicular thyroid carcinoma (FTC) is rare manifestation. Case Presentations. Herein, we present three cases of cerebellar metastasis (CBM) of PTC. Mean age of patients was 67 years (range: 64-72), and mean duration between initial diagnosis and CBM was 49.6 months (range: 37-61). Frequent location was left cerebellar hemisphere and was associated with hydrocephalus. All patients underwent suboccipital craniectomy, and in two patients postoperative intensity modulated radiation therapy (IMRT) was given to deliver 5000 cGy in 25 fractions to residual lesions. Patient without postoperative IMRT had cerebellar recurrence along with lung and bone metastasis after 38 months. However, two patients were found alive and free of disease at the time of last follow-up. Conclusion. CBM from PTC is a rare clinical entity and is often associated with hydrocephalus. Histopathological diagnosis is important to initiate effective treatment, which relies on multidisciplinary approach to prolong the disease-free and overall survival rates.
More than an Incidentaloma: The Nonreportable NIPT
Authors: Allison M Jay, Brian Mason, Daniel Lebovic, Paul Chuba
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman's results are nonreportable. Reasons include low fetal fraction, insufficient DNA, vanishing twin, twin pregnancy, clonal mosaicism, and maternal neoplasia. Here, we describe a 25-year-old G2P1 pregnant woman who had two nonreportable NIPT results and subsequently was diagnosed with lymphoma. We discuss the importance of clinical exam in correlation with the results to offer comprehensive evaluation of the patient with a nonreportable finding, given malignancy occurs in 1/1000 pregnant women. This report overviews proposed management guidelines for pregnant women with a nonreportable result and helps to address discomfort the treating physician may feel in discussing this result with their patient.
Extragastrointestinal Stromal Tumor: A Differential Diagnosis of Compressive Upper Abdominal Tumor
Authors: Clara Kimie Miyahira, Miguel Bonfitto, Jéssyca Fernanda de Lima Farto, Annelise de Figueiredo Calili, Nathalia Rabello da Silva Sousa, Ana Paula de Figueiredo Calili
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Extragastrointestinal stromal tumors (EGIST) are rare mesenchymal tumor lesions located outside the gastrointestinal tract. A rare compressing tumor with difficult diagnosis is reported.
Presentation of the case:
A male patient, 63 years old, was admitted in the emergency room complaining of stretching and continuous abdominal pain for one day. He took Hyoscine, with partial improvement of symptoms, but got worse due to hyporexia, and the abdominal pain persisted. The patient also reported early satiety and ten-pound weight loss over the last month.
Discussion:
EGIST could be assessed by CT-guided biopsy, leading to diagnosis and proper treatment with surgical resection or Imatinib.
Conclusion:
This case report highlights the importance of considering EGIST an important differential diagnosis of compressing upper abdominal tumors.
Clinical Management of Epilepsy With Glutamic Acid Decarboxylase Antibody Positivity: The Interplay Between Immunotherapy and Anti-epileptic Drugs
Authors: Kari-Matti Mäkelä, Aki Hietaharju, Antti Brander, Jukka Peltola
Journal: Front Neurol (2018)
Keywords: autoimmune epilepsy, case series, clinical management, glutamic acid decarboxylase antibody, limbic encephalitis
MeSH terms: Case Reports

Background: There is scanty guidance in the literature on the management of patients with glutamic acid decarboxylase (GAD65) antibody associated autoimmune epilepsy (GAD-epilepsy). GAD-epilepsy is a rare distinct neurological syndrome with a wide clinical spectrum. We describe six GAD-epilepsy patients with special emphasis on the treatment timing and the relationship between immunologic and anti-epileptic therapy. Methods: Six patients diagnosed with GAD-epilepsy in Tampere University Hospital who had received immunotherapy from 2013 to 2017 were retrospectively analyzed from patient records. Data about symptom onset, including antibody levels, magnetic resonance imaging (MRI), electroencephalograms, immunotherapy and anti-epileptic treatment timing and treatment responses were collected and analyzed. Kruskall-Wallis test was used in the statistical evaluation. Results: All patients were female aged 9-54 at symptom onset. Three had hypothyroidism, none had diabetes, two had migraine. Five patients had very high (>2,000 IU/ml) and one had high (52-251 IU/ml) GAD65 antibody titers. All patients presented with seizure disorders. Patients who received early initiation of immunotherapy (3-10 months) responded well to treatment; patients in whom the immunotherapy was started later (15-87 months) did not respond (p = 0.0495). The first patient was seizure-free after 1 year of regular intravenous immunoglobulin and one antiepileptic drug (AED). The second patient developed unilateral temporal lobe T2 signal changes in MRI; she responded well to immunotherapy, experiencing a significant reduction in seizure frequency and resolution of MRI abnormalities. However, seizures continued despite trials with several AEDs. The third patient responded well to immunoadsorption and rituximab with one AED, with lowering of GAD65 titers (from >2,000 to 300). There was a long delay in the diagnosis of GAD-epilepsy in the three patients who had developed refractory epilepsy, one with hippocampal sclerosis. They all received immunotherapy but none responded. However, AED modification or vagus nerve stimulation reduced the seizure frequency in two patients. Epilepsy surgery was ineffective. Conclusions: These results highlight the importance of early detection of GAD65 antibodies in refractory epilepsy as immunotherapy can be effective if administered in the early stages of the disease when it can prevent permanent brain tissue damage.
Features of two cases with 18q deletion syndrome
Authors: Elif Özsu, Gül Yeşiltepe Mutlu, Ayşegül Bütel Yüksel, Şükrü Hatun
Journal: J Clin Res Pediatr Endocrinol (2014)
MeSH terms: Abnormalities, Multiple / genetics, Chromosome Disorders / genetics, Dwarfism / genetics, Intellectual Disability / genetics, Case Reports, Adolescent, Child, Chromosome Deletion, Chromosome Disorders / pathology, Chromosomes, Human, Pair 18 / genetics, Female, Humans, Prognosis, Syndrome, Chromosome 18 deletion syndrome

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.
Bilateral patellar tendon rupture in a weightlifter during an acute high-loading resistance exercise bout: A case study
Authors: L A Alexander, J T Mchunu, R D Kgabu, E W Derman
Journal: S Afr J Sports Med (2022)
Keywords: extensor mechanism, injury, load, sport
MeSH terms: Case Reports

Bilateral patellar tendon ruptures are exceedingly uncommon, especially when they occur in individuals without predisposing risk factors or systemic disease. Due to its rarity, many cases are missed on initial presentation resulting in poor patient outcomes. Identifying associated risk factors aids in diagnosis and mitigates this oversight. We report a case of a healthy, recreational weightlifter who sustained bilateral patellar tendon ruptures during an acute high-loading resistance exercise bout. We discuss how a spike in acute workload may have predisposed our patient to this injury. Research into training load and athlete injury risk is currently in vogue, however, no studies have analysed whether poor load management increases the risk of tendon ruptures. This case prompts awareness for clinicians who diagnose and manage this injury and helps to stimulate the formation of educational initiatives for athletes and coaches, aimed at injury prevention.
Case Report: Cotard's Syndrome in Anti-N-methyl D-aspartate (NMDA) Receptor (Anti-NMDAR) Encephalitis
Authors: Nur Iwana Abdul Taib, Suzaily Wahab, Ching Soong Khoo, Hui Jan Tan, Lydia Kamaruzaman, Luke Sy-Cherng Woon, Lydia Lay Yen Gan
Journal: Front Psychiatry (2022)
Keywords: cotard's syndrome, anti-nmdar, case report, encephalitis, neuropsychiatry, nihilistic delusion, psychosis
MeSH terms: Case Reports

Cotard's syndrome is uncommon psychopathology among patients with psychotic illnesses. Limited cases had been reported regarding the occurrence of this syndrome in anti-NMDAR encephalitis which itself is a relatively new disease that often presents with florid psychotic symptoms. This poses difficulties in differentiating it from a primary psychiatric illness. Late recognition of anti-NMDAR encephalitis can lead to death as it can progress to autonomic instability in its natural course of illness. We report a patient who first presented with psychotic symptoms with initial negative findings from baseline investigations. Further investigation revealed anti NMDAR antibodies in the cerebrospinal fluid. Prompt treatment was initiated and despite early poor response to the first-line treatment with the development of allergic reaction, our patient recovered completely after 1 month of hospitalization. This case report aims to highlight the importance of early detection of anti-NMDAR encephalitis and the possibility of uncommon psychopathology such as Cotard's syndrome occurring in this disease.