OpenMed/multicare-articles huggingface dataset:
Orthodoxy, illusio, and playing the scientific game: a Bourdieusian analysis of infection control science in the COVID-19 pandemic
Authors: Trisha Greenhalgh, Mustafa Ozbilgin, Damien Contandriopoulos
Journal: Wellcome Open Res (2021)
Keywords: bourdieu, sars-cov-2, aerosol transmission, evidence-based medicine, illusio, infection prevention and control, orthodoxy, symbolic violence

Background:
Scientific and policy bodies' failure to acknowledge and act on the evidence base for airborne transmission of SARS-CoV-2 in a timely way is both a mystery and a scandal. In this study, we applied theories from Bourdieu to address the question, "How was a partial and partisan scientific account of SARS-CoV-2 transmission constructed and maintained, leading to widespread imposition of infection control policies which de-emphasised airborne transmission?".
Methods:
From one international case study (the World Health Organisation) and three national ones (UK, Canada and Japan), we selected a purposive sample of publicly available texts including scientific evidence summaries, guidelines, policy documents, public announcements, and social media postings. To analyse these, we applied Bourdieusian concepts of field, doxa, scientific capital, illusio, and game-playing. We explored in particular the links between scientific capital, vested interests, and policy influence.
Results:
Three fields-political, state (policy and regulatory), and scientific-were particularly relevant to our analysis. Political and policy actors at international, national, and regional level aligned-predominantly though not invariably-with medical scientific orthodoxy which promoted the droplet theory of transmission and considered aerosol transmission unproven or of doubtful relevance. This dominant scientific sub-field centred around the clinical discipline of infectious disease control, in which leading actors were hospital clinicians aligned with the evidence-based medicine movement. Aerosol scientists-typically, chemists, and engineers-representing the heterodoxy were systematically excluded from key decision-making networks and committees. Dominant discourses defined these scientists' ideas and methodologies as weak, their empirical findings as untrustworthy or insignificant, and their contributions to debate as unhelpful.
Conclusion:
The hegemonic grip of medical infection control discourse remains strong. Exit from the pandemic depends on science and policy finding a way to renegotiate what Bourdieu called the 'rules of the scientific game'-what counts as evidence, quality, and rigour.
Latent autoimmune diabetes of adulthood: case report
Authors: Cristen P Page, Brian Fitzgerald, Emily M Hawes
Journal: Clin Diabetes Endocrinol (2017)
Keywords: diabetes, graves’ disease, autoimmune, endocrine, polyglandular autoimmune syndromes, polydipsia, diabetic ketoacidosis
MeSH terms: Case Reports

Background:
Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families.
Case presentation:
A 49-year-old Caucasian female with history of pituitary adenoma and Graves' disease with history of thyroid ablation presented in the outpatient setting due to hand tingling of her right middle finger that was worse in the mornings and improved throughout the day. She also complained of excessive thirst, finding herself drinking more water than usual and waking up in the night to urinate. There was no dysuria or haematuria, and no other neurologic symptoms. She did report feeling hungry. She had no family history of diabetes, normal body mass index of 21.7, and reported taking her thyroid replacement medication every day. The differential diagnosis for her thirst included dehydration, psychogenic polydipsia, diabetes mellitus, diabetes insipidus, and anxiety. The patient had normal vital signs and was well appearing; labs were ordered for her on her way home from clinic with no medications. Labs revealed a random blood glucose level of 249 mg/dL, normal renal function, a normal B12 of 996 pg/mL, and an elevated thyroid stimulating hormone level of 25.67 u[iU]/mL. On follow up with her primary care provider 5 days later, additional labs were drawn showing A1C of 11.5%, 1+ ketonuria, a negative Acetest, and a normal basic metabolic panel, except for a fasting glucose of 248 mg/dL, and Free T3 of 2.42 pg/mL, and Free T4 of 1.7 ng/dL. Islet cell antibodies and glutamic acid decarboxylase antibodies were both positive, consistent with type 1 diabetes. She was started on insulin and improved.
Conclusion:
Given the patient's age, this is a less common presentation of type 1 diabetes mellitus, as a part of polyglandular autoimmune syndrome type IIIa. It serves as a reminder that clinicians should remember that patients with one autoimmune disease (in this case, h/o Graves' disease) are at higher risk for diabetes and other endocrine autoimmune diseases and should be screened appropriately. Clinicians should keep latent type 1 diabetes in the differential in adulthood to ensure proper and timely treatment.
Acquiring the Diagnosis of an Acquired Tracheoesophageal Fistula with EtCO2: A Case Discussion with Review of the Literature
Authors: Janine Beatrice Borja, Ghanshyam Patel, Luqman Baloch, Ammar Aqeel, Mool Chand, Hariprasad Korsapati, Altaf Dawood, Naser Khan
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Acquired tracheoesophageal fistula (TEF) is a rare complication of esophageal or lung cancer. A 57-year-old male presented with complaints of vomiting, cough, 20 lb weight loss, and progressive dysphagia. Early laryngoscopy and CT chest showed a normal pharynx with an irregular thickness of the thoracic esophagus. The upper gastrointestinal endoscopy (UGIE) and upper endoscopic ultrasound (EUS) revealed a hypoechoic mass evolving as complete obstruction. During the procedure, minimal CO2 was used for insufflation; however, when attempts were made to traverse the obstruction, capnography revealed an end-tidal CO2 (EtCO2) estimating 90 mmHg indicating possible TEF. This case depicts the use of capnography during UGIE in diagnosing an acquired TEF.
Tubulointerstitial Nephritis and Uveitis Syndrome: Case Series and Literature Review
Authors: Beatriz Oliveira Lopes, Margarida Sena Brízido, Ana Cortesão Costa, Mário Raimundo, Margarida Maria Miranda, Susana Morais Pina
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Tubulointerstitial nephritis and uveitis syndrome (TINU) is a rare oculorenal inflammatory entity with a probable autoimmune etiology. Interstitial nephritis may be asymptomatic and usually has a benign course with spontaneous resolution. Uveitis, instead, is classically anterior, bilateral, and nongranulomatous, but it can be unilateral and presents as posterior uveitis or panuveitis, sometimes with a chronic or recurrent evolution. The frequent time lag of ocular and renal manifestations makes this diagnosis particularly challenging. The authors describe four cases of this rare entity, two with tubulointerstitial nephritis preceding ocular manifestations and the remaining, instead, with uveitis preceding renal involvement. The therapeutic approach included systemic corticosteroids in all cases. The addition of immunosuppressive therapy was required in three patients to achieve uveitis control. TINU is probably an underrecognized entity and should always be considered in the differential diagnosis of a chronic or recurrent idiopathic uveitis, especially in young patients who may have mild and asymptomatic renal disease.
Laparoscopic and endoscopic cooperative surgery for early gastric cancer: Perspective for actual practice
Authors: Peng-Yue Zhao, Zhao-Fu Ma, Ya-Nan Jiao, Yang Yan, Song-Yan Li, Xiao-Hui Du
Journal: Front Oncol (2022)
Keywords: early gastric cancer, endoscopic resection, endoscopic submucosal dissection, laparoscopic and endoscopic cooperative surgery, sentinel nodes
MeSH terms: Review

Early gastric cancer (EGC) has a desirable prognosis compared with advanced gastric cancer (AGC). The surgical concept of EGC has altered from simply emphasizing radical resection to both radical resection and functional preservation. As the mainstream surgical methods for EGC, both endoscopic resection and laparoscopic resection have certain inherent limitations, while the advent of laparoscopic and endoscopic cooperative surgery (LECS) has overcome these limitations to a considerable extent. LECS not only expands the surgical indications for endoscopic resection, but greatly improves the quality of life (QOL) in EGC patients. This minireview elaborates on the research status of LECS for EGC, from the conception and development of LECS, to the tentative application of LECS in animal experiments, then to case reports and retrospective clinical studies. Finally, the challenges and prospects of LECS in the field of EGC are prospected and expounded, hoping to provide some references for relevant researchers. With the in-depth understanding of minimally invasive technology, LECS remains a promising option in the management of EGC. Carrying out more related multicenter prospective clinical researches is the top priority of promoting the development of this field in the future.
Unilateral Blepharoptosis from Renal Cell Carcinoma
Authors: Federico Greco, Lorenzo Sabatino, Francesco Sabatino, Manuele Casale, Carlo Cosimo Quattrocchi, Bruno Beomonte Zobel
Journal: J Kidney Cancer VHL (2016)
Keywords: blepharoptosis, kidney cancer, orbital mri, ptosis, renal cell carcinoma
MeSH terms: Case Reports

Blepharoptosis is the drooping or inferior displacement of the upper eyelid. Blepharoptosis can be either congenital or acquired. Tumour metastasis is one of the acquired causes of blepharoptosis. The lungs, locoregional lymph nodes, bone and liver are the usual sites of metastases of renal cell carcinoma (RCC); however, unusual locations of RCC have also been reported. Herein, we describe a case of a 47-year-old man with unilateral ptosis and blurred vision due to metastatic RCC. We describe the different causes of blepharopstosis, the path that led to the diagnosis, and how RCC can metastasize to unusual anatomical regions such as the orbit. Symptoms such as exophthalmos, lid edema, diplopia, ptosis, cranial nerve paralysis or blurred vision may mime a benign disease; however, they could also be the symptoms of a systemic malignancy.
Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing
Authors: Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong
Journal: Front Genet (2022)
Keywords: cma, nipt, karyotyping, prenatal diagnosis, tetrasomy 9p syndrome
MeSH terms: Case Reports

Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3-9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis.
Treatment of Pelvic Organ Prolapse in a Patient with a Thermal Burn Wound Caused by Hot Stone Therapy, a Traditional Thai Treatment
Authors: Sasivimol Srisukho, Orawee Chinthakanan
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

A 72-year-old woman presented with a 1-month history of an incarcerated uterine prolapse along with an infected wound at the anterior uterine wall. She had previously undergone the traditional Thai practice Yue Fai, or "lying by the fire," as performed by postpartum women. However, her uterus was burned by the extremely high temperature involved in the practice; it subsequently became infected and incarcerated. Pelvic examination revealed stage IV genitourinary prolapse according to the POP-Q classification. An ill-defined ulcer measuring 6.5 × 4.5 cm was present in the anterior wall of the uterus, and a 2.0 cm diameter ulcer was present in the right posterior wall of the uterus. The patient was treated symptomatically with broad-spectrum antibiotics, local estrogen therapy, analgesic and anti-inflammatory agents, and antiseptic dressing of the ulcerated area. After alleviation of all symptoms, the ulcer almost completely healed. She was advised to undergo definitive surgical treatment for the prolapsed uterus.
Metachronous bladder metastases from renal cell carcinoma: a case report and review of the literature
Authors: S Melegari, G Albo, B Rocco, F Verweij, M Abbinante, O de Cobelli
Journal: Ecancermedicalscience (2010)
MeSH terms: Case Reports

Introduction:
adrenal gland, parotid gland, pharynx, eye and bladder are rare localizations of metastases of renal cell carcinoma (RCC). We report a case of metachronous RCC metastases to the bladder in a patient with a medical history of transitional cell carcinoma (TCC) of the bladder.
Materials and methods:
a case study and review of the relevant literature are presented.
Results:
during a follow-up cystoscopy examination following treatment of TCC, a single 5-mm lesion was detected and endoscopically resected. The histology of the resected sample was confirmed to be RCC, comparable to a primary kidney cancer and not recurrent TCC.
Conclusion:
the patient had a probability of metastases three years after nephrectomy of 62.9%. Survival rates following single metastasectomy are 60% and 38% at three and five years, respectively; metachronous diagnosis has a better prognosis than synchronous. During RCC follow-up, each lesion should be considered as a possible metastasis of RCC.
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Authors: Osama Hamdoun, Asia Al Mulla, Shamma Al Zaabi, Hiba Shendi, Sharifa Al Ghamdi, Jozef Hertecant, Amar Al-Shibli
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
Authors: Aleksandra Krstic, Fatemah Rezayee, Leonie Saft, Anna Hammarsjö, Petter Svenberg, Gisela Barbany
Journal: Front Pediatr (2023)
Keywords: jak2 fusions, pediatric t-all, precision medicine, targeted therapy, whole genome sequencing
MeSH terms: Case Reports

In the present report, we applied whole genome sequencing (WGS) to genetically characterize a case of pediatric T-cell acute lymphoblastic leukemia (ALL) refractory to standard therapy. WGS identified a novel JAK2 fusion, with CCDC88C as a partner. CCDC88C encodes a protein part of the Wnt signaling pathway and has previously been described in hematological malignancies as fusion partner to FLT3 and PDGFRB. The novel CCDC88C::JAK2 fusion gene results in a fusion transcript, predicted to produce a hybrid protein, which retains the kinase domain of JAK2 and is expected to respond to JAK2 inhibitors. This report illustrates the potential of WGS in the diagnostic setting of ALL.
Repeated Synchronous Aspiration and Ingestion of a Sharp Metallic Foreign Body in a Mentally Disabled Adolescent
Authors: Dragan Subotic, Nikola Atanasijadis, Dejan Moskovljevic, Dragana Asujic
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

In a mentally disabled adolescent, bronchoscopic extraction failure of a metallic foreign body from the left main bronchus was followed by mediastinal emphysema. At thoracotomy, a part of the metallic hook was found to protrude through the main bronchus, just by the descending aorta. The foreign body was removed and the bronchus sutured. After the thoracotomy closure, laparotomy was performed with removal of metallic pieces from the stomach. After three years, a repeated metallic foreign body aspiration as confirmed by the chest radiography ensued, with metallic pieces in the bowels as well. With the surgical team on site, rigid bronchoscopy was done and the foreign body extracted from the intermediate bronchus. Metallic pieces left the digestive tract spontaneously after a few days. In conclusion, the appropriate preoperative workup and timing for surgery are essential for the treatment outcome of this life-threatening condition; because of the high likelihood of the major airway injury, such procedures should be done with a surgical team available whenever possible.
Generalised muscle weakness after bladder wall injection of Abobotulinum Toxin A: experience of a woman with tetraplegia who required increased caregiver support: importance of doctor-patient communication: duty of candour for spinal cord physician and responsibilities of a patient
Authors: Subramanian Vaidyanathan, Tracey Foster, Bakul M Soni
Journal: Spinal Cord Ser Cases (2018)

Introduction:
Generalised muscle weakness can occur after bladder wall injection of Abobotulinum toxin and the patient may require additional caregiver support.
Case presentation:
A woman with C-8 AIS A tetraplegia received bladder wall injection of Abobotulinum toxin A 1000 units for detrusor over-activity. After 2.5 weeks, she developed weakness of arms; could not lift herself for pressure relief; could not transfer using sliding board; she regained the original muscle strength in 6 weeks. After 13 months, Abobotulinum toxin A 1000 units were injected into detrusor. Ten days after the second Abobotulinum toxin A injection, she developed generalised muscle weakness. She had not regained full function in her arms and hands 8 months later.Prior to bladder wall injection of Abobotulinum toxin A, this patient was not aware that she could develop muscle weakness albeit very rarely. Therefore, the patient made no association of the muscle weakness, which occurred after the first injection, to Abobotulinum toxin A. For this reason, she did not inform the clinicians that she developed weakness of upper limbs following Abobotulinum toxin A injection. As she was not informed of this side effect before the second bladder wall injection of Abobotulinum toxin A, she consented to undergo the repeat procedure and developed generalised muscle weakness.
Discussion:
Patients should inform doctors the adverse effects of medical therapy so that future treatment is amended to ensure patient safety. Professional duty of candour states that doctors should discuss risks which occur often, those that are serious even if very unlikely, and those that are important to the patient.
Immune checkpoint inhibitor-related pancreatitis: What is known and what is not
Authors: Chunyan Jiang, Wen Tang, Xu Yang, Hongwei Li
Journal: Open Med (Wars) (2023)
Keywords: pd-i inhibitor, adverse event, immune checkpoint inhibitor, pancreatitis, sintilimab
MeSH terms: Case Reports

A 47-year-old man presented with a 1 week history of progressive fatigue and decreased appetite. He had stage IV oral squamous cell carcinoma and was treated with sintilimab, a programmed cell death protein 1 inhibitor, 22 months earlier. Laboratory work-up revealed significant elevation of bilirubin, liver enzymes, glucose, and lipase. Ultrasound examination and magnetic resonance cholangiopancreatography showed severe stenosis and occlusion of the pancreatic segment of the common bile duct, and PET/CT revealed swelling of the pancreas with diffuse increase in glucose metabolism. He was diagnosed with immune checkpoint inhibitor (ICI)-related pancreatitis and the treatment with sintilimab was permanently discontinued. He was administered systemic methylprednisolone at a dose of 2 mg/kg/day and subcutaneous insulin injection, without intravenous fluid or protease inhibitor. He improved quickly and received oral methylprednisolone for 10 months in gradually decreasing doses. He maintained well at 20 month follow-up. ICI-related pancreatitis is rare and varied. Further studies are needed to investigate the differences in the two types of ICI-related pancreatitis: acute pancreatitis and autoimmune pancreatitis-like cases.
An Integrated Pharmacological Counselling Approach to Guide Decision-Making in the Treatment with CDK4/6 Inhibitors for Metastatic Breast Cancer
Authors: Rossana Roncato, Lorenzo Gerratana, Lorenza Palmero, Sara Gagno, Ariana Soledad Poetto, Elena Peruzzi, Martina Zanchetta, Bianca Posocco, Elena De Mattia, Giovanni Canil, Martina Alberti, Marco Orleni, Giuseppe Toffoli, Fabio Puglisi, Erika Cecchin
Journal: Front Pharmacol (2022)
Keywords: cdk4/6 inhibitors, tdm, breast cancer, personalized medicine, pharmacological counselling, polymorphisms

A wide inter-individual variability in the therapeutic response to cyclin-dependent kinases 4 and 6 inhibitors (CDKis) has been reported. We herein present a case series of five patients treated with either palbociclib or ribociclib referred to our clinical pharmacological counselling, including therapeutic drug monitoring (TDM), pharmacogenetics, and drug-drug interaction analysis to support clinicians in the management of CDKis treatment for metastatic breast cancer. Patients' plasma samples for TDM analysis were collected at steady state and analyzed by an LC-MS/MS method for minimum plasma concentration (Cmin) evaluation. Under and overexposure to the drug were defined based on the mean Cmin values observed in population pharmacokinetic studies. Polymorphisms in selected genes encoding for proteins involved in drug absorption, distribution, metabolism, and elimination were analyzed (CYP3A4, CYP3A5, ABCB1, SLCO1B1, and ABCG2). Three of the five reported cases presented a CDKi plasma level above the population mean value and were referred for toxicity. One of them presented a low function ABCB1 haplotype (ABCB1-rs1128503, rs1045642, and rs2032582), possibly causative of both increased drug oral absorption and plasmatic concentration. Two patients showed underexposure to CDKis, and one of them was referred for early progression. In one patient, a CYP3A5*1/*3 genotype was found to be potentially responsible for more efficient drug metabolism and lower drug plasma concentration. This intensified pharmacological approach in clinical practice has been shown to be potentially effective in supporting prescribing oncologists with dose and drug selection and could be ultimately useful for increasing both the safety and efficacy profiles of CDKi treatment.