OpenMed/multicare-articles huggingface dataset:
Scientific and technological advances in the development of sustainable disease management tools: a case study on kiwifruit bacterial canker
Authors: Miguel G Santos, Marta Nunes da Silva, Marta W Vasconcelos, Susana M P Carvalho
Journal: Front Plant Sci (2024)
Keywords: actinidia spp, pseudomonas syringae pv actinidiae, antimicrobial molecules, microbial biological control agents, plant breeding, plant elicitors, precision agriculture, sustainable horticulture
MeSH terms: Review

Plant disease outbreaks are increasing in a world facing climate change and globalized markets, representing a serious threat to food security. Kiwifruit Bacterial Canker (KBC), caused by the bacterium Pseudomonas syringae pv. actinidiae (Psa), was selected as a case study for being an example of a pandemic disease that severely impacted crop production, leading to huge economic losses, and for the effort that has been made to control this disease. This review provides an in-depth and critical analysis on the scientific progress made for developing alternative tools for sustainable KBC management. Their status in terms of technological maturity is discussed and a set of opportunities and threats are also presented. The gradual replacement of susceptible kiwifruit cultivars, with more tolerant ones, significantly reduced KBC incidence and was a major milestone for Psa containment - which highlights the importance of plant breeding. Nonetheless, this is a very laborious process. Moreover, the potential threat of Psa evolving to more virulent biovars, or resistant lineages to existing control methods, strengthens the need of keep on exploring effective and more environmentally friendly tools for KBC management. Currently, plant elicitors and beneficial fungi and bacteria are already being used in the field with some degree of success. Precision agriculture technologies, for improving early disease detection and preventing pathogen dispersal, are also being developed and optimized. These include hyperspectral technologies and forecast models for Psa risk assessment, with the latter being slightly more advanced in terms of technological maturity. Additionally, plant protection products based on innovative formulations with molecules with antibacterial activity against Psa (e.g., essential oils, phages and antimicrobial peptides) have been validated primarily in laboratory trials and with few compounds already reaching field application. The lessons learned with this pandemic disease, and the acquired scientific and technological knowledge, can be of importance for sustainably managing other plant diseases and handling future pandemic outbreaks.
A rare presentation of thyroid malignant peripheral nerve sheath tumor in neurofibromatosis type 1 delineated by FDG PET/CT: A case report and literature review
Authors: Serin Moghrabi, Nabeela Al-Hajaj, Fatimah Abu Aljaaz, Omar Jaber, Akram Al-Ibraheem
Journal: Asia Ocean J Nucl Med Biol (2024)
Keywords: malignant peripheral nerve, neurofibromatosis type 1, pet/ct a b s t r a c t, thyroid, sheath tumor
MeSH terms: Case Reports

Malignant peripheral nerve sheath tumors (MPNST) are rare, aggressive soft tissue sarcomas that arise from peripheral nerves and often present a diagnostic and therapeutic challenge. They can occur sporadically or in association with neurofibromatosis type 1 (NF1), a genetic disorder caused by mutations in the NF1 gene. This report presents the unique case of a 33-year-old male with progressive dry cough, hoarseness, and neck swelling who underwent a total thyroidectomy, revealing a high-grade malignant peripheral nerve sheath tumor invading the thyroid. FDG PET/CT led to the additional diagnosis of NF1. This case stands out due to the rarity of finding an MPNST within the thyroid and the simultaneous identification of NF1. It underscores the importance of screening MPNST patients for NF1 and vice versa, spotlighting the expanding role of FDG PET/CT in comprehensive evaluations. To our knowledge, this report presents the first case of NF1-associated MPNST with thyroid involvement worldwide.
Growing teratoma syndrome of the ovary: a case report and literature review
Authors: Jiaying Tao, Zhixian Shi, Mulan Li, Tingting Li
Journal: Front Oncol (2024)
Keywords: chemoradiotherapy resistance, early diagnosis, growing teratoma syndrome (gts), ovarian cancer, ovarian immature teratoma
MeSH terms: Case Reports

Growing teratoma syndrome (GTS) is a rare condition that arises secondary to malignant germ cell tumors. It is characterized by an enlarging abdominal mass during or after chemotherapy, normal tumor markers, and histopathological indications of mature teratoma components. Awareness of GTS is limited, and it is often mistaken for disease progression or recurrence. This misdiagnosis can lead to delayed treatment and increased risk of complications. Therefore, early identification of GTS is crucial to avoid unnecessary systemic treatments and reduce financial burden. GTS is unresponsive to chemotherapy or radiotherapy and complete surgical resection is the sole therapeutic strategy. In this report, we present a case of GTS in a 20-year-old female following treatment for immature teratoma, alongside a review of the relevant literature aimed at enriching our insight into the clinical manifestations of GTS.
Pott's Paraplegia in a 2 Years Female: A Rare Presentation at an Early Age
Authors: Preeti Basnet, Anish Joshi, Saurab Karki, Anil Jung Thapa, Prayash Poudel, Anugya Sapkota, Manoj Shrestha, Shreebridhi Pande
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Introduction:
Potts disease is extrapulmonary skeletal tuberculosis mostly affecting the thoracolumbar spine. It destroys the disc space, adjacent vertebral bodies, and spinal elements, leading to cord compression and paraplegia.
Methods:
This is a case report study of a 29-month-old toddler who presented to our hospital with bilateral lower limb weakness.
Results:
On clinical, laboratory, and radiological examination, she was diagnosed with Pott's spine, started on antitubercular therapy, and planned for surgery in her follow-up.
Conclusion:
Tuberculosis of the spine is still prevalent in developing countries, mainly in children. Complications of the disease can be devastating because of its ability to cause bone destruction, spinal deformity, and paraplegia. So, in a tuberculosis-endemic region, clinical suspicion should be there for Potts disease when a child presents with paraplegia of the lower limbs. Children can develop tuberculosis which can spread to the spine despite vaccination. The prognosis of spinal tuberculosis is improved by early diagnosis and rapid intervention.
Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia
Authors: Chien-Ming Lin, Yi-Xuan Ding, Shih-Ming Huang, Ying-Chuan Chen, Hwei-Jen Lee, Chih-Chien Sung, Shih-Hua Lin
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: calcimimetics, calcium-sensing receptor, familial hypocalciuric hypercalcemia, half-maximal effective concentration, parathyroid hormone
MeSH terms: Hypercalcemia / congenital, Hypercalcemia / diagnosis, Hypercalcemia / drug therapy, Hypercalcemia / genetics, Hyperparathyroidism, Kidney Diseases, Case Reports, Calcium / metabolism, Humans, Male, Middle Aged, Mutation, Receptors, Calcium-Sensing / genetics, Receptors, Calcium-Sensing / metabolism, Receptors, Calcium-Sensing, Calcium, CASR protein, human, Hypocalciuric hypercalcemia, familial, type 1

Context:
Although a monoallelic mutation in the calcium-sensing receptor (CASR) gene causes familial hypocalciuric hypercalcemia (FHH), the functional characterization of the identified CASR mutation linked to the clinical response to calcimimetics therapy is still limited.
Objective:
A 45-year-old male presenting with moderate hypercalcemia, hypocalciuria, and inappropriately high parathyroid hormone (PTH) had a good response to cinacalcet (total serum calcium (Ca2+) from 12.5 to 10.1 mg/dl). We identified the genetic mutation and characterized the functional and pathophysiological mechanisms, and then linked the mutation to calcimimetics treatment in vitro.
Design:
Sanger sequencing of the CASR, GNA11, and AP2S1 genes was performed in his family. The simulation model was used to predict the function of the identified mutant. In vitro studies, including immunoblotting, immunofluorescence, a cycloheximide chase study, Calbryte™ 520 Ca2+ detection, and half-maximal effective concentration (EC50), were examined.
Results:
This proband was found to carry a de novo heterozygous missense I554N in the cysteine-rich domain of CASR, which was pathogenic based on the different software prediction models and ACGME criteria. The simulation model showed that CASR I554N mutation decreased its binding energy with Ca2+. Human CASR I554N mutation attenuated the stability of CASR protein, reduced the expression of p-ERK 1/2, and blunted the intracellular Ca2+ response to gradient extracellular Ca2+ (eCa2+) concentration. The EC50 study also demonstrated the correctable effect of calcimimetics on the function of the CASR I554N mutation.
Conclusion:
This novel CASR I554N mutation causing FHH attenuates CASR stability, its binding affinity with Ca2+, and the response to eCa2+ corrected by therapeutic calcimimetics.
Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome
Authors: Christine Anna Dambietz, Andrea Doescher, Michael Heming, Anja Schirmacher, Bernhard Schlüter, Andrea Schulte-Mecklenbeck, Christian Thomas, Heinz Wiendl, Gerd Meyer Zu Hörste, Sarah Wiethoff
Journal: Front Genet (2024)
Keywords: kell system, mcleod syndrome, xk gene, flow cytometry, intrathecal immunity, myopathy, neurogenetic disease, neuropathy
MeSH terms: Case Reports

Introduction: Pathogenic variants in the XK gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in XK causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature. Methods: We performed in-depth clinical characterization and flow cytometry of cerebrospinal fluid (CSF) in a patient where multi-gene panel sequencing identified a novel hemizygous frameshift deletion in XK. Additionally, Kell (K) and Cellano (k) antigen expression was analysed by Fluorescence-activated Cell Sorting (FACS). KEL gene expression was examined by RNA sequencing. Results: A novel hemizygous frameshift deletion in the XK gene resulting in premature termination of the amino acid chain was identified in a 46-year old male presenting with decrease in physical performance and persisting fatigue after COVID-19 infection. Examinations showed raised creatine kinase (CK) levels, neuropathy and clinical features of myopathy. FACS revealed the K-k+ blood type and reduced Cellano density. CSF flow cytometry showed elevation of activated T Cells. Conclusion: In-depth clinical, genetic, immunological and ribonucleic acid (RNA) expression data revealed axonal neuropathy, myopathy and raised levels of activated CSF-T-lymphocytes in a patient with a previously unpublished frameshift deletion in the XK gene.
A rare case of myxoma mimicking pulmonary thromboembolism: a case report
Authors: Shokoufeh Hajsadeghi, Saeid Hosseini, Hossein Saidi, Shayan Mirshafiee
Journal: Front Cardiovasc Med (2024)
Keywords: cardiac surgery, cardiac tumor, case report, myxoma, pulmonary embolism
MeSH terms: Case Reports

Studies have shown that primary cardiac tumors are exceptionally rare and among them myxomas represents approximately half. Although majority of these benign tumors are located in left atrium, they can also emerge in the right cardiac chambers and also on cardiac valves. In rare instances, they may extend into the great vessels. In this case, we present a teenage girl with a past medical history of successfully cured acute lymphoblastic leukemia, who presented with progressive dyspnea and lower limbs edema. Based on history, laboratory, and echocardiographic evidences, she was initially treated for high-risk thromboembolism but after inefficient response, she underwent surgery, with a large right ventricular outflow tract myxoma being diagnosed.
A Case of Radiation-Induced Brachial Plexopathy Below the Tolerance Dose
Authors: Akane Masumoto, Kota Yokoyama, Meika Namba, Kazuma Sasamura, Ryo-Ichi Yoshimura
Journal: Cureus (2024)
Keywords: chemoradiotherapy, magnetic resonance imaging, non-small cell lung carcinoma, radiation tolerance dose, radiation-induced brachial plexopathy
MeSH terms: Case Reports

This case report details a rare instance of radiation-induced brachial plexopathy (RIBP) occurring below the typical tolerance dose in a 55-year-old woman following chemoradiotherapy for apical non-small cell lung carcinoma. Despite receiving a radiation dose considered safe (47-48 Gray in 25 fractions), she developed sensory abnormalities and motor weakness in the right upper limb. The diagnostic distinction between RIBP and tumor recurrence was achieved using MRI, which showed characteristic features of radiation-induced damage. The patient's medical history included smoking and rheumatoid arthritis, highlighting the role of patient-specific factors in the development of RIBP. The case underscores the importance of recognizing RIBP as a potential diagnosis in patients with new-onset brachial plexopathy post-radiation therapy, even when radiation exposure is within conventional safety limits. This report contributes to the literature by demonstrating that RIBP can occur at lower-than-expected radiation doses, especially in the presence of contributing factors like neurotoxic chemotherapy and individual patient risks. It emphasizes the need for careful assessment and management in such cases to distinguish between RIBP and cancer recurrence.
Case Report: Serum methotrexate monitoring by immunoassay: confusion by by-product, confusion by antidote
Authors: Aditya Sharma, Philip Benoit, Frederick Lansigan, David Nierenberg
Journal: Front Oncol (2023)
Keywords: antidote, glucarpidase, leucovorin, methotrexate, monitoring, serum, toxicity
MeSH terms: Case Reports

Methotrexate is a commonly used agent in the treatment of many malignancies and rheumatologic/inflammatory diseases. Working by inhibiting dihydrofolate reductase and thereby preventing eventual formation of tetrahydrofolate, methotrexate inhibits synthesis of purines and thymidylate, therefore disabling a malignant cell's ability to replicate. While it is able to effectively do this, methotrexate also holds potential for significant toxicity. Therefore, serum methotrexate monitoring is of utmost importance when administering the drug, particularly when high doses are used. Although there are several different measurement systems, the immunoassay is a commonly used monitoring system that may be prone to interference when using agents with similar carbon backbone as methotrexate, including folinic acid (leucovorin) at high doses, as well as in the setting of glucarpidase use and consequent methotrexate breakdown. However, adjusting leucovorin dosing policy and being aware of the potential of the immunoassay to be "confused" by similar molecules have allowed for the efficient and effective use of the immunoassay while preventing prolonged hospital stays at our institution.
Study on the trend of congenital heart disease inpatient costs and its influencing factors in economically underdeveloped areas of China, 2015-2020: a case study of Gansu Province
Authors: Shengze Zhou, Yaya Yang, Lei Wang, Heming Liu, Xuemei Wang, Changping Ouyang, Jinhua Pan, Xiaobin Hu
Journal: Front Public Health (2024)
Keywords: congenital heart disease, economic burden, influencing factors, inpatient costs, random forest
MeSH terms: Heart Defects, Congenital / epidemiology, Hospitalization, Research Support, Non-U.S. Gov't, China / epidemiology, Health Expenditures, Humans, Inpatients

Background:
Economic data on congenital heart disease are scarce in economically underdeveloped areas of China. Therefore, this study aimed to shed light on the level and changing trend of congenital heart disease inpatients' economic burden in underdeveloped areas.
Method:
This study used a multi-stage stratified cluster sampling method to select 11,055 inpatients with congenital heart disease from 197 medical and health institutions in Gansu Province. Their medical records and expenses were obtained from the Hospital Information System. Univariate analysis was conducted using the rank sum test and Spearman rank correlation. Quantile regression and random forest were used to analyze the influencing factors.
Results:
From 2015 to 2020, the average length of stay for congenital heart disease patients in Gansu Province was 10.09 days, with an average inpatient cost of USD 3,274.57. During this period, the average inpatient costs per time increased from USD 3,214.85 to USD 3,403.41, while the average daily inpatient costs increased from USD 330.05 to USD 376.56. The average out-of-pocket costs per time decreased from USD 2,305.96 to USD 754.77. The main factors that affected the inpatient costs included length of stay, cardiac procedure, proportion of medications, age, and hospital level.
Conclusion:
Congenital heart disease causes a significant economic burden on both families and society. Therefore, to further reduce the patient's financial burden, the length of stay should be reasonably reduced, and the rational distribution of medical resources should be continuously promoted to ensure equitable access to healthcare services.
Case Report: A myxoma with a far reach
Authors: Elias Akiki, Arman Arghami, Muhannad A Abbasi, Edward A El-Am, Ali Ahmad, Thomas A Foley, Richard C Daly, Joseph J Maleszewski, Reto Kurmann, Kyle W Klarich
Journal: Front Cardiovasc Med (2024)
Keywords: 3d reconstruction, atypical myxoma, cardiac ct, cardiac mri (cmri), echocardiography, multimodal imaging, pulmonary veins
MeSH terms: Case Reports

A 73-year-old woman presented to the emergency department with a syncopal episode and a history of dizzy spells. A transthoracic echocardiogram demonstrated a large left atrial mass extending into the right upper pulmonary veins. Subsequently, cardiac magnetic resonance imaging and coronary computed tomography angiography with three-dimensional reconstruction and printing of the heart and mass were performed, which demonstrated a high index of suspicion for an atypical left atrial myxoma. The mass was excised robotically, and the pathology report confirmed a diagnosis of myxoma.
Classic Kaposi Sarcoma: A Comprehensive Case Report on Multisite Involvements and Therapeutic Strategies
Authors: Leo Wan, Audrey Yan, Casey O'Doherty, Xiner Jiang, Rosemarie Hardin
Journal: Cureus (2024)
Keywords: classic kaposi sarcoma, clinical dermatology, hhv-8, kaposi sarcoma hiv negative, kaposi sarcoma treatment
MeSH terms: Case Reports

Classic Kaposi sarcoma (CKS), a variant of Kaposi sarcoma (KS), predominantly affects elderly men of Mediterranean and Ashkenazi descent. It is primarily seen in immunocompetent patients, often as cutaneous manifestations in the lower extremities. Treatment of CKS ranges from radiation therapy, chemotherapeutic agents, surgical excision, cryosurgery, and immunotherapy, and the treatment selection is contingent on disease-specific manifestations. This study presents the case of an 83-year-old immunocompetent male of Mediterranean descent, diagnosed with CKS five years ago, exhibiting an onset of painful violaceous papulonodular lesions on the right medial plantar surface and painless papulonodular lesions on the right upper arm and medial thigh. The case highlights the intricacies of CKS diagnosis and management, shedding light on the diverse treatments targeted for lesions across various anatomical locations.
Sternal Metastasis of Lung Cancer: A Case Report and a Review of the Literature
Authors: Imane Legssyer, Oumayma Haloui, Siham Bouali, Afaf Thouil, Hatim Kouismi
Journal: Cureus (2024)
Keywords: lung cancer, squamous cell carcinoma, sternal biopsy, sternal mass, sternum metastasis
MeSH terms: Case Reports

Primary sternal cancer is exceptionally rare. Secondary sternal cancer typically arises when cancer spreads either through the bloodstream from other sites or directly from neighboring lung or breast cancers. Pain is the primary symptom, but these metastases can lead to skeletal-related events such as pathological fractures, hypercalcemia, and spinal cord or nerve compression, necessitating surgical or radiotherapy interventions. These events contribute to increased morbidity and costs for both patients and the healthcare system. We report the case of a 63-year-old female patient who presented with a sternal mass and whose further investigations revealed metastatic lung cancer in the sternum.
Managing Complex Foot Crush Injuries: A Case Report
Authors: Palak R Ahuja, Aditi Akhuj, Vaishnavi Yadav, Purva Gulrandhe, Aditi P Ambekar
Journal: Cureus (2024)
Keywords: crush injuries, cuboid fracture, cuneiform fracture, dyspnea, rehabilitation, strength
MeSH terms: Case Reports

A serious kind of fractured foot ailment is a foot crush injury. Foot injury commonly happens in accidents involving transportation or the workplace, such as automobile accidents, big objects falling on the foot, or heavy machinery running over the foot. Foot crush injuries are more severe than regular foot fractures. These wounds are usually very serious, involving many fractures and soft tissue injuries. The main symptoms include pain, severe muscle and tissue damage, and extreme swelling. Because of this, treating a foot crush injury can be quite challenging and frequently requires the collaboration of physical therapists, orthopedic surgeons, and podiatrists. Physiotherapy is important for reducing pain, increasing range of motion, strengthening muscles, and improving leg function. It also decreases the chance of contractures, deformities, and stiffness following crush injuries. In this report, we present the case of a 58-year-old male with a lacerated wound over his left foot with chief complaints of severe pain. Patient-tailored physiotherapy rehabilitation, including active movements, passive movements, isometric exercises, and a strengthening regimen consisting of numerous repetitions and progressive complexity, was given. At the end of four weeks, the patient had improved strength and quality of life.