OpenMed/multicare-articles huggingface dataset:
The treatment efficacy of cortical bone trajectory (CBT) pedicle screws for lumbar degenerative disease in the Chinese Han population
Authors: Jinhui Wu, Tao Lin, Heng Jiang, Jun Ma, Ke Zhang, Jianquan Zhao, Xuhui Zhou, Ce Wang
Journal: Front Surg (2022)
Keywords: cbt, hrqol (health-related quality-of-life), degenerative lumbar disease, morphometric measurement, outcome

Purpose:
To provide reference data on CBT pedicle screws from CT measurements of L1 to L5 in the Chinese Han population and to assess the treatment efficacy of CBT pedicle screws in cases of lumbar degenerative disease.
Methods:
In total, 100 patients were identified from the CT database for CBT morphometric measurement of the lumbar spine. According to sex and age, patients were divided into four groups. The diameter, length, and angle of the vertebral pedicle and trajectory were measured. Then, a total of 36 patients with lumbar degenerative disease were included in this study for clinical and radiographic evaluation. Demographic characteristics, health-related quality of life (HRQOL), and extent of intervertebral disc herniation and spondylolisthesis were evaluated.
Results:
The mean diameter and the mean length varied from L1 to L5 in Groups I to IV. The lateral angles ranging from L1 to L5 were 8.9 to 9.2°, 8.7 to 12.2°, 8.7 to 11.2°, and 9.2 to 10.1° in Groups I to IV, respectively. The cephalad angles from L1 to L5 were 23.5 to 28.6°, 24.7 to 26.6°, 25.0 to 28.2°, and 24.7 to 27.9° in Groups I to IV, respectively. In the case series, all patients' neurological function and HRQOL were significantly improved at the final follow-up (p < 0.0001), and 75% of patients achieved satisfaction.
Conclusions:
The morphology of the lumbar vertebral pedicle varied from L1 to L5, and the trajectory was feasible and safe. CBT pedicle screws were effective in treating lumbar degenerative diseases and benefited the patients.
Cerebral vasculitis mimicking intracranial metastatic progression of lung cancer during PD-1 blockade
Authors: Heinz Läubli, Jürgen Hench, Michal Stanczak, Ingmar Heijnen, Alexandros Papachristofilou, Stephan Frank, Alfred Zippelius, Frank Stenner-Liewen
Journal: J Immunother Cancer (2017)
Keywords: antibody, autoimmune, brain metastasis, cancer immunotherapy, checkpoint inhibitor
MeSH terms: Adenocarcinoma / secondary, Brain Neoplasms / secondary, Lung Neoplasms / drug therapy, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Vasculitis, Central Nervous System / diagnostic imaging, Case Reports, Adenocarcinoma / diagnosis, Adenocarcinoma / drug therapy, Antibodies, Monoclonal / adverse effects, Antineoplastic Agents / adverse effects, Brain Neoplasms / diagnosis, Diagnosis, Differential, Disease Progression, Humans, Immunotherapy / adverse effects, Immunotherapy / methods, Magnetic Resonance Imaging, Male, Middle Aged, Nivolumab, Vasculitis, Central Nervous System / chemically induced, Vasculitis, Central Nervous System / pathology, Antibodies, Monoclonal, Antineoplastic Agents, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Nivolumab

Background:
Stimulation of the immune system by targeting the PD-1/PD-L1 pathway can result in activation of anti-tumor immunity. Besides its clinical benefit immune checkpoint therapy leads to significant immune-related adverse events (irAEs). Some rare irAEs are not well described yet but are critical in patient management.
Case presentation:
Here, we describe a case of autoimmune cerebral vasculitis/encephalitis after PD-1 inhibitor treatment for metastatic adenocarcinoma of the lung. Upon PD-1 blockade, the patient developed cerebral lesions, while having disease stabilization of extracranial metastases. Imaging suggested that the patient had new progressing brain metastases. Despite stereotactic irradiation the lesions progressed further. The largest lesion became symptomatic and had to be surgically resected. On examination, cerebral vasculitis was detected but not evidence of metastatic lung cancer. Analysis of the patient's serum revealed the presence of antinuclear antibodies that were already present before starting PD-1 blockade. In addition, we also found anti-vascular endothelial antibodies in the serum.
Conclusion:
This finding suggests that the patient had preformed autoantibodies and the checkpoint inhibitor induced a clinically relevant autoimmune disease. Taken together, encephalitic lesions in patients under PD-1/PD-L1 blockade can mimic metastatic brain lesions and this rare irAE has to be considered as a differential diagnosis in patients treated with immunotherapy.
Systemic Sclerosis and Multiple Cancers of the Female Genital Tract: Prolonged Survival following Current Treatment Strategies
Authors: Georgios Androutsopoulos, Georgios Adonakis, Athanasios Tsamandas, Andreas Andonopoulos, Georgios Decavalas
Journal: Case Rep Rheumatol (2011)
MeSH terms: Case Reports

Background. Systemic sclerosis is a rare, chronic, multisystem, and autoimmune disease. There is an overall increased risk of malignancy in patients with systemic sclerosis. However, multiple cancers of the female genital tract in patients with SSc are a very rare event. Our aim is to present a case of SSc and multiple cancers of the female genital tract, with prolonged survival following current treatment strategies. Case. The patient, a 43-year-old nulliparous premenopausal Greek woman suffering from systemic sclerosis, presented with a history of abdominal pain and abnormal uterine bleeding. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy, total omentectomy, appendectomy, and pelvic lymph node dissection. The histopathology revealed synchronous primary cancers of the endometrium and left ovary. The final diagnosis was stage Ib endometrial cancer endometrioid type and stage IIIc ovarian cancer endometrioid type. She underwent postoperative adjuvant chemotherapy and remains well without evidence of disease 89 months after initial surgery. Conclusion. Although our patient was diagnosed at advanced stage disease, prolonged survival may be related with radical surgery and postoperative adjuvant chemotherapy according to current treatment strategies.
Pityriasis lichenoides chronica associated with herpes simplex virus type 2
Authors: Antonio Javier González Rodríguez, Encarnación Montesinos Villaescusa, Esperanza Jordá Cuevas
Journal: Case Rep Dermatol Med (2012)

Introduction. Pityriasis lichenoides is a rare, acquired spectrum of skin conditions of an unknown etiology. Case Report. A 28-year-old man presented with recurrent outbreaks of herpes simplex virus associated with the onset of red-to-brown maculopapules located predominantly in trunk in each recurrence. Positive serologies to herpes simplex virus type 2 were detected. Histopathological examination of one of the lesions was consistent with a diagnosis of pityriasis lichenoides chronica. Discussion. Pityriasis lichenoides is a rare cutaneous entity of an unknown cause which includes different clinical presentations. A number of infectious agents have been implicated based on the clustering of multiple outbreaks and elevated serum titers to specific pathogens (human immunodeficiency virus, cytomegalovirus, Epstein-Barr virus, Toxoplasma gondii, and herpes simplex virus). In our patient, resolution of cutaneous lesions coincided with the administration of antiviral drugs and clinical improvement in each genital herpes recurrence. In conclusion, we report a case in which cutaneous lesions of pityriasis lichenoides chronica and a herpes simplex virus-type 2-mediated disease have evolved concomitantly.
Brachial pseudoaneurysm of the neonate with partial response to thrombin injections and late spontaneous thrombosis and regression during expectant management
Authors: Dimitri Parra, Ronald Zuker, Bairbre Connolly
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

We illustrate the case of a brachial pseudoaneurysm in a 32-week preterm baby male who presented with a large pulsatile mass in the right antecubital fossa, with no clear aetiologic factor. The management of this type of lesion has been controversial and based mainly on case reports. In this case, after obtaining partial response with two thrombin injections, it spontaneously regressed during expectant management. This combination of therapeutic options may be an alternative for the management of complex lesions and, to the best of our knowledge, has not been previously reported.
Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase
Authors: Matthew K Howe, Kennichi Dowdell, Amitava Roy, Julie E Niemela, Wyndham Wilson, Joshua J McElwee, Jason D Hughes, Jeffrey I Cohen
Journal: Front Immunol (2019)
Keywords: epstein-barr virus, il-2 inducible t cell kinase, itk, t cell signaling, immunodeficiency, lymphomatoid granulomatosis, magnesium
MeSH terms: Blood Cells / immunology, Blood Cells / metabolism, Disease Susceptibility, Magnesium / metabolism, Protein-Tyrosine Kinases / genetics, Protein-Tyrosine Kinases / metabolism, Case Reports, Research Support, N.I.H., Intramural, Adult, DNA Mutational Analysis, Epstein-Barr Virus Infections / complications, Epstein-Barr Virus Infections / virology, Exome Sequencing, Female, Homozygote, Humans, Lymphomatoid Granulomatosis / diagnosis, Lymphomatoid Granulomatosis / etiology, Mutation, Missense, Protein Interaction Domains and Motifs / genetics, Protein-Tyrosine Kinases / chemistry, Structure-Activity Relationship, Protein-Tyrosine Kinases, emt protein-tyrosine kinase, Magnesium

Interleukin-2-inducible T cell kinase (ITK) is critical for T cell signaling and cytotoxicity, and control of Epstein-Barr virus (EBV). We identified a patient with a novel homozygous missense mutation (D540N) in a highly conserved residue in the kinase domain of ITK who presented with EBV-positive lymphomatoid granulomatosis. She was treated with interferon and chemotherapy and her disease went into remission; however, she has persistent elevation of EBV DNA in the blood, low CD4 T cells, low NK cells, and nearly absent iNKT cells. Molecular modeling predicts that the mutation increases the flexibility of the ITK kinase domain impairing phosphorylation of the protein. Stimulation of her T cells resulted in reduced phosphorylation of ITK, PLCγ, and PKC. The CD8 T cells were moderately impaired for cytotoxicity and degranulation. Importantly, addition of magnesium to her CD8 T cells in vitro restored cytotoxicity and degranulation to levels similar to controls. Supplemental magnesium in patients with mutations in another protein important for T cell signaling, MAGT1, was reported to restore EBV-specific cytotoxicity. Our findings highlight the critical role of ITK for T cell activation and suggest the potential for supplemental magnesium to treat patients with ITK deficiency.
Enhancing energy literacy in children using zn/cu/potato batteries
Authors: Mark Polikovsky, Avigdor Sharon, Alexander Golberg
Journal: F1000Res (2018)
Keywords: batteries, bioelectricity, energy education, household air pollution prevention, lighting
MeSH terms: Copper / chemistry, Education, Electric Power Supplies, Zinc / chemistry, Adolescent, Child, Humans, Copper, Zinc

Background. The major challenges that prevent the wide-scale adoption of emerging personal clean energy production are unawareness and low self-confidence. We tested a hypothesis that a combination of a new technology and educational methods could lead to the increase in awareness of children to clean energy possibilities and to an increase in self-confidence in applying them. Methods. Here we report on a toolkit that combines low carbon, clean energy source, Zn/Cu/potato batteries, sufficient to power light-emitting diodes, with a non-formal education by experience program, based on case studies and hands-on experience with battery assembly for 6-11 years old children, led by trained 12-14 old youth leaders. Results. The results show that the education experience increased the awareness of the children to produce electricity at home from unconventional, yet available raw materials and their self-confidence in being able to do this (p=0.008). Conclusions. The developed toolkit supports environmental and energy literacy education through non-formal training, increasing awareness and self-confidence in children to actually apply this in their living environment to produce clean energy.
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
Authors: Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader, Mona El Ruby
Journal: Biomed Res Int (2015)
MeSH terms: Bone Morphogenetic Proteins / genetics, Genetic Markers / genetics, Hyperostosis / genetics, Mutation / genetics, Syndactyly / genetics, Case Reports, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Amino Acid Sequence, Base Sequence, Bone Morphogenetic Proteins / chemistry, Child, DNA Mutational Analysis, Egypt, Family, Female, Humans, Hyperostosis / diagnostic imaging, Male, Models, Genetic, Molecular Sequence Data, Mutant Proteins / chemistry, Mutant Proteins / metabolism, Pedigree, Radiography, Syndactyly / diagnostic imaging, Adaptor Proteins, Signal Transducing, Bone Morphogenetic Proteins, Genetic Markers, Mutant Proteins, SOST protein, human, Sclerosteosis

Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the SOST gene were performed followed by in silico analysis of the resulting variation. A novel homozygous frameshift mutation in the SOST gene, characterized as one nucleotide cytosine insertion that led to premature stop codon and loss of functional sclerostin, was identified in the two affected brothers. Their parents were heterozygous for the same mutation. To our knowledge this is the first Egyptian study of sclerosteosis and SOST gene causing mutation.
Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family
Authors: Junmin Zheng, Zhuangzhuang Huang, Shan Hou, Xunwei Jiang, Yongwei Zhang, Wei Liu, Jia Jia, Yun Li, Xiaomin Sun, Lijian Xie, Xiaopei Zhao, Cuilan Hou, Tingting Xiao
Journal: Front Pediatr (2022)
Keywords: lim domain-binding protein 3, gene mutation, hypertrophic cardiomyopathy, protein stability, whole exome sequencing
MeSH terms: Case Reports

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiomyopathy, which is one of the most common reasons for cardiac arrest in children or adolescents. It is characterized by ventricular hypertrophy (usually left ventricle), small ventricular cavity, and reduced ventricular diastolic compliance found by echocardiography in the absence of abnormal load (such as hypertension or aortic stenosis). HCM is usually caused by mutations in genes encoding sarcomere or sarcomere-related genes. Whole exome sequencing (WES) is performed to identify probable causative genes. Through WES, we identified LIM domain-binding protein 3 (LDB3) mutations (R547Q and P323S) respectively in an 11-year-old HCM girl and a 6-year-old HCM boy. Neural network analyses showed that the LDB3 (R547Q and P323S) mutation decreased its protein stability, with confidence scores of -0.9211 and -0.8967. The STRUM server also confirmed that the mutation decreased its protein stability. Thus, LDB3 mutation may be associated with heritable HCM. To our knowledge, this is the first time to report LDB3 heterozygous variants (R547Q and P323S) responsible for heritable HCM.
Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak-Higashi Syndrome
Authors: Kasumi Shimizu, Miho Hayashi, Nozomi Ito, Kokoro Hamada, Gaku Koizumi, Kazuto Kurohara, Naoya Arai
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Chédiak-Higashi syndrome (CHS), a rare autosomal recessive disorder associated with leukocyte dysfunction, is characterised by partial skin and hair albinism, immunodeficiency, and abnormal bleeding. Furthermore, it may be associated with cognitive and neurological impairments. The long-term prognosis of patients is generally poor, and haematopoietic stem cell transplantation is a radical immunodeficiency treatment. Here, we report a case of successful oral management of an 18-year-old woman with CHS accompanied by aggressive periodontitis who underwent haematopoietic stem cell transplantation.
Challenges in the veterinary microbiology diagnostic laboratory: a novel Acinetobacter species as presumptive cause for feline unilateral conjunctivitis
Authors: Ana P Vale, Bernadette Leggett, David Smyth, Finola Leonard
Journal: Access Microbiol (2020)
Keywords: acinetobacter, veterinary microbiology, antimicrobial resistance, microbiology diagnostic laboratory
MeSH terms: Case Reports

The present study highlights challenges in the veterinary microbiology diagnostic laboratory in the identification of bacteria responsible for infections in veterinary settings, particularly when evidence-based data is lacking. A 1.8-year-old neutered male domestic cat (FIV/FeLV negative) was presented to a veterinary practice in April 2016 with a history of left unilateral mild conjunctivitis that was empirically treated with fusidic acid and chloramphenicol. In January 2017, the same animal was presented with chronic left unilateral conjunctivitis and an eye swab was submitted for microbiological culture and susceptibility testing. Significant growth was not detected in two samples tested. Finally, in February 2017 another eye swab produced a slow growing pure culture identified by VITEK 2 as Neisseria cinerea (94 % confidence). Given the morphology and multidrug resistance profile of the isolate a 16S rRNA PCR was performed for definitive identification. The nucleotide sequence of the PCR amplicon was 99 % homologous to Acinetobacter equi sp. nov. strain 114. Veterinary microbiology diagnostic laboratories play an important role worldwide, not only in preserving animal health and welfare but also in controlling the spread of zoonotic pathogens. The lack of evidence-based information on the ocular microbiome of healthy cats and the complexity of bacterial ecosystems renders the interpretation of results difficult. A further problem for both the laboratory and the clinician is the lack of interpretive criteria for antibiotic susceptibility test results for some types of infections in animals (including those caused by Acinetobacter ) and the complete unavailability of criteria for topical antibiotic preparations.
A primary intestinal lymphangiectasia hiding the diagnosis of pleural and pericardial tuberculosis: a clinical observation
Authors: Sanaa Hammi, Hajar Berrani, Thami Benouchen, Naima Lamlami, Imane Elkhiyat, Jamal Eddine Bourkadi
Journal: Pan Afr Med J (2017)
Keywords: waldmann’s disease, intestinal, malabsorption, primary intestinal lymphangiectasia
MeSH terms: Lymphangiectasis, Intestinal / diagnosis, Lymphedema / diagnosis, Pericardium / microbiology, Tuberculosis / diagnosis, Tuberculosis, Pleural / diagnosis, Case Reports, Female, Humans, Lymphangiectasis, Intestinal / etiology, Lymphedema / etiology, Tuberculosis / complications, Tuberculosis / physiopathology, Tuberculosis, Pleural / complications, Young Adult, Waldmann disease

Primary intestinal lymphangiectasia (Waldmann's disease) is an exudative enteropathy characterized by lymph leakage into the small bowel lumen leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia (particularly T-cell). The diagnosis is based on viewing the duodenal lymphangiectasia. A 20 years old female patient, treated for a primary intestinal lymphangiectasia, has consulted for anasarca. Etiological work-up reveals pleural and pericardial tuberculosis. The clinical aggravation of an enteropathy, particularly in adulthood, requires a search for a secondary etiology. Tuberculosis should be sought systematically.
Case report: A fatal case of myocardial infarction due to myocardial bridge and concomitant vasospasm: the role of stress gated SPECT
Authors: Seok Oh, Dae Young Hyun, Sang-Geon Cho, Young Joon Hong, Ju Han Kim, Youngkeun Ahn, Myung Ho Jeong
Journal: Front Cardiovasc Med (2023)
Keywords: spect ct, cardiac imaging techniques, coronary angiography, myocardial bridging, myocardial infarction
MeSH terms: Case Reports

Introduction:
Although most cases of myocardial bridge (MB) are clinically benign, sometimes it can be one of potential threats of myocardial infarction (MI) and life-threatening arrhythmia. In the present study, we present a case of ST-segment elevation MI caused by MB and concomitant vasospasm.
Case presentation:
A 52-year-old woman was brought to our tertiary hospital due to resuscitated cardiac arrest. Because the 12-lead electrocardiogram indicated ST-segment elevation MI, coronary angiogram was promptly commenced, which showed near-total occlusion at the middle portion of left anterior descending coronary artery (LAD). After intracoronary nitroglycerin administration, this occlusion was dramatically relieved, however, systolic compression at this site remained, indicative of myocardial bridge (MB). Intravascular ultrasound also showed eccentric compression with a "half-moon" sign, which is consistent with MB. Coronary computed tomography also showed a bridged coronary segment surrounded by myocardium at the middle portion of LAD. To assess the severity and extent of myocardial damages and ischemia, myocardial single photon emission computed tomography (SPECT) was additionally conducted, showing a moderate fixed perfusion defect around the cardiac apex, suggesting MI. After receiving optimal medical therapy, the patient's clinical symptoms and signs were improved then the patient was discharged from the hospital successfully and uneventfully.
Conclusion:
We demonstrated a case of MB-induced ST-segment elevation MI which was confirmed with its perfusion defects via myocardial perfusion SPECT. There have been proposed a number of diagnostic modalities to examine its anatomic and physiologic significance. Among them, myocardial perfusion SPECT can be available as one of useful modalities to evaluate the severity and extent of myocardial ischemia in patients with MB.
Severe Aplastic Anemia following Parvovirus B19-Associated Acute Hepatitis
Authors: Masanori Furukawa, Kosuke Kaji, Hiroyuki Masuda, Kuniaki Ozaki, Shohei Asada, Aritoshi Koizumi, Takuya Kubo, Norihisa Nishimura, Yasuhiko Sawada, Kosuke Takeda, Tsuyoshi Mashitani, Masayuki Kubo, Itsuto Amano, Tomoyuki Ootani, Chiho Ohbayashi, Koji Murata, Tatsuichi Ann, Akira Mitoro, Hitoshi Yoshiji
Journal: Case Reports Hepatol (2017)
MeSH terms: Case Reports

Human parvovirus (HPV) B19 is linked to a variety of clinical manifestations, such as erythema infectiosum, nonimmune hydrops fetalis, and transient aplastic anemia. Although a few cases have shown HPVB19 infection as a possible causative agent for hepatitis-associated aplastic anemia (HAAA) in immunocompetent patients, most reported cases of HAAA following transient hepatitis did not have delayed remission. Here we report a rare case of severe aplastic anemia following acute hepatitis with prolonged jaundice due to HPVB19 infection in a previously healthy young male. Clinical laboratory examination assessed marked liver injury and jaundice as well as peripheral pancytopenia, and bone marrow biopsy revealed severe hypoplasia and fatty replacement. HPVB19 infection was diagnosed by enzyme immunoassay with high titer of anti-HPVB19 immunoglobulin M antibodies. Immunosuppressive therapy was initiated 2 months after the onset of acute hepatitis when liver injury and jaundice were improved. Cyclosporine provided partial remission after 2 months of medication without bone marrow transplantation. Our case suggests that HPVB19 should be considered as a hepatotropic virus and a cause of acquired aplastic anemia, including HAAA.