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Efficacy and safety of dupilumab in the treatment of kimura’s disease QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-03-14 Y L Liu, Y T Ran, Y F Zhang, X T Peng, Y M Xia, H l Yan
Background Kimura's disease (KD) is a rare chronic inflammatory condition characterized by nodules and lymphadenopathy in the head and neck region, exhibiting type II inflammation. Dupilumab is commonly used against type II inflammation. Aim To evaluate the efficacy and safety of dupilumab in KD patients. Design The real-world study was conducted in a hospital in China. Methods Six male patients with
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Clinical Characteristics and Induced Pluripotent Stem Cells (iPSCs) Disease Model of Fabry Disease Caused by a Novel GLA Mutation QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-28 Langping Gao, Zhihong Lu, Ying Zhang, Lexin Liu, Jingmiao Sun, Haidong Fu, Jianhua Mao, Lidan Hu
Background Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the GLA gene. We established a cohort of FD patients and performed whole-exome sequencing (WES) to identify some novel mutations. Aim The aim of this study is to investigate the etiology of the novel mutation (c.72G > A, p.Trp24*)in the GLA gene in affected patients by using induced pluripotent stem cells (iPSCs)
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Differences in maternal-newborn ABO blood groups and risk of serious infant infection QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-25 Emily Ana Butler, Sonia M Grandi, Lavina Matai, Xuesong Wang, Eyal Cohen, Joel G Ray
Background During pregnancy, various maternal IgG antibodies are transferred to the developing fetus, some of which may protect the newborn against infection. If a mother and her fetus have different ABO blood groups, then transferred maternal antibodies may plausibly protect the infant against infection. Aim To determine if maternal-newborn ABO blood group incongruence vs. congruence is associated
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Function and mechanism of lysine crotonylation in health and disease QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-23 Lianjie Hou, Yan-Jun Chen, Qiong Zhong, Jiaxin Pei, Lili Liu, Hui Pi, Meiying Xie, Guojun Zhao
Lysine crotonylation is a newly identified posttranslational modification that is different from the widely studied lysine acetylation in structure and function. In the last dozen years, great progress has been made in lysine crotonylation-related studies, and lysine crotonylation is involved in reproduction, development, and disease. In this review, we highlight the similarities and differences between
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Chronic chikungunya disease (CCD): clinical insights, immunopathogenesis, and therapeutic perspectives QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-19 Wern Hann Ng, Kennedy Amaral, Emilie Javelle, Suresh Mahalingam
Summary Chikungunya virus, an arthropod-borne pathogen is recognised by the World Health Organization as a top priority Emerging Infectious Disease and is ranked fourth in public health needs according to the Coalition for Epidemic Preparedness Innovations (CEPI). Despite its substantial impact, as evidenced by an annual estimate of 120,274 disability-adjusted life years, our understanding of the chronic
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Pregnancy-induced prolactinoma enlargement QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-09 Masashi Hasebe, Kimitaka Shibue, Akihiro Hamasaki
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The Long-COVID Syndrome—how to assess in real-time an individuals well-being—the COVID-19 Yorkshire Rehabilitation Scale (C19-YRSm) QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-08 Seamas C Donnelly
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Shark fin electrocardiogram pattern in apical hypertrophic cardiomyopathy: a rare case QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-07 Wenyi Tang, Junwei Xu, Cunxue Pan, Jian Chen
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Cornea verticillata in fabry disease QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-07 Elfa Ali Idrus, Erwin Iskandar
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New sights in ectopic varices in portal hypertension QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-07 Kun He, Ke Pang, Xiaxiao Yan, Qiang Wang, Dong Wu
Summary Ectopic varices and associated bleeding, although rare, pose a significant risk to patients with portal hypertension, carrying a relatively high mortality rate. These varices can occur in various anatomical regions, excluding the gastroesophageal region, which is typically associated with portal vein drainage. The limited data available in the literature, derived mostly from case reports and
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Impact of potentially inappropriate medications on the risk of hospital admissions and emergency department visits in patients with dementia QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-02-02 Po-Jen Yang, Chun-Chieh Chen, Shiuan-Chih Chen
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Mortality risk in patients with preserved ratio impaired spirometry: assessing the role of physical activity QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-31 Chin-Chung Shu, Min Kuang Tsai, June Han Lee, Ta-Chen Su, Chi Pang Wen
Background While all-cause mortality is reportedly increased in preserved ratio impaired spirometry (PRISm), no remedial efforts have been suggested. Aim To study the ability of physical activity (PA) on reducing the morality increased in PRISm patients. Design We prospectively enrolled a cohort of Taiwanese adults from 1994 to 2018 in a health surveillance program. Methods Mortality risks of those
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Recurrent non-rheumatic streptococcal myocarditis: 18F-FDG PET/CMR findings QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-26 Philippe Baltzinger, Soraya El Ghannudi, Marine Germaini, Jean-Jacques Von Hunolstein, Floriane Zeyons, Alessio Imperiale
Nonrheumatic streptococcal myocarditis (NRSM) is a life-threatening complication of streptococcal pharyngitis. We report the history of a 35-year-old man with recurrent NRSM and the related 18F-FDG PET/CMR findings.18F-FDG PET/CMR represents cutting-edge imaging for the diagnosis and follow-up of myocarditis, allowing myocardial inflammation assessment, and the distinction between active disease and
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Acute disseminated candidiasis: Tell-tale signs on clinical examination QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-25 Praveen Kumar Tirlangi, Ananth Pai, Muralidhar Varma, Nitin Gupta
Typical skin lesions and the presence of fluffy lesions on the retina can indicate the possibility of acute disseminated candidiasis. These can not only help in the early initiation of the therapy but also help in choosing the most appropriate antifungal. We report a case of acute disseminated candidiasis involving the skin, muscles, eye, lung, and kidney in a patient with acute lymphoblastic leukaemia
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Japan's medical workforce crisis: Nagoya university's new policy significantly reducing physician compensation for education & research QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-24 Yudai Kaneda, Akihiko Ozaki, Uiri Kaneda, Makoto Kosaka, Tetsuya Tanimoto
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Osteoma cutis in pseudohypoparathyroidism type 1A QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-24 Xiaoli Wang
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A classic case of TakoTsubo syndrome QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-24 Dinesh P Raja, Sudipta Mondal, Sravan Kumar Gaddamedi
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Comment on Impact of COVID-19 infection experience on mental health status of ICU patient’s family members QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Corey Mumaw, Patrick Wu, Chin-Yuan Yii, Su-Boon Yong
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Elevated Prostate-Specific Antigen (PSA) levels from acute COVID-19 infection confounding cancer disease surveillance QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 You-Jiang Tan, Youhong Tan
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Impact of prehospital care and door-to-computed tomography scan time on stroke outcomes QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Kai-Lun Sheu, Shiuan-Chih Chen, Chun-Chieh Chen
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siRNA therapy improves multimodality imaging in hereditary transthyretin cardiac amyloidosis: a case report QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Toru Awaya, Jin Endo, Raisuke Iijima, Masayuki Shimoda, Masao Moroi
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Exploring the Complex Ramifications of Post-Intensive Care as a Chronic Condition: Urgent Calls for Deeper Investigation into the Enigma QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Tao Liu, Huiru Ding, Zhihao Zhao, Gen Li, Rongcai Jiang
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Headache and optic disc oedema revealing autoimmune GFAP-astrocytopathy QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Chai Ching Ng, Mervyn Qi Wei Poh, Su Ann Lim, Saravana Kumar Swaminathan, Tianrong Yeo
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Immune checkpoint inhibitor related myasthenia gravis, myositis and myocarditis: A triad but not at the same time? QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Tim Cooksley, Jamie Weaver, Mairead McNamara, Paul Lorigan
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A rare case of pigmented nodular alopecic lesion on the scalp QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Peiqiu Zhu, Shuxia Yang, Yang Wang
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Response: Impact of prehospital care and door-to-computed tomography scan time on stroke outcomes QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Joseph Harbison, Ronan Collins, Joan McCormick, Olga Brych, Clare Fallon, Tim Cassidy
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Pigment Sparing along superficial veins in Systemic Sclerosis QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Manavi Gupta, Shikha Shah, Tarun Narang
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IgG4 disease mimicking lung cancer QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-17 Margaret Gleeson, Tom McEnery, Sean Gaine
Presentation A 49-year-old was referred for lobectomy for an incidental finding of a spiculated lung nodule presumed to be primary lung malignancy Diagnosis Histopathological analysis of the resected lung nodule demonstrated the presence of dense lympho-cytoplastic tissue infiltration by immunoglobulin G4 and fibrosis, consistent with IgG4 disease Treatment The patient was managed conservatively, with
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COVID-19 susceptibility, hospitalization and severity and the risk of brain cortical structure: a Mendelian randomization study QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-10 D Sun, Z Shi, H Chen, Q Du, Y Zhang, R Wang, L Kong, W Luo, Y Lang, X Wang, H Zhou
Abstract Background Observational studies have reported structural changes in the brains of patients with coronavirus disease 2019 (COVID-19); it remains unclear whether these associations are causal. Aim We evaluated the causal effects of COVID-19 susceptibility, hospitalization and severity on cortical structures. Design Mendelian randomization (MR) study. Methods Data on the different COVID-19 phenotypes
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Independent association of estimated pulse-wave velocity with all-cause mortality in individuals with type 2 diabetes QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-09 Anna Solini, Emanuela Orsi, Martina Vitale, Monia Garofolo, Veronica Resi, Enzo Bonora, Cecilia Fondelli, Roberto Trevisan, Monica Vedovato, Antonio Nicolucci, Giuseppe Penno, Giuseppe Pugliese
Abstract Background Estimated pulse wave velocity (ePWV), a surrogate measure of arterial stiffness, was shown to independently predict morbidity and mortality from cardiovascular disease and other causes in both the general population and high-risk individuals. However, in people with type 2 diabetes, it is unknown whether ePWV adds prognostic information beyond the parameters used for calculating
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Long-read single-cell sequencing reveals the transcriptional landscape of spermatogenesis in obstructive azoospermia and sertoli cell-only patients QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-09 Xiaolong Wu, Mujun Lu, Damin Yun, Sheng Gao, Fei Sun
Background: High-throughput single-cell RNA sequencing (scRNA-seq) is widely used in spermatogenesis. However, it only reveals short reads in germ and somatic cells, limiting the discovery of novel transcripts and genes. Aim This study shows the long-read transcriptional landscape of spermatogenesis in obstructive azoospermia (OA) and Sertoli cell-only (SCO) patients. Design Single cells were isolated
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A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10 QJM An Int. J. Med. (IF 13.3) Pub Date : 2024-01-05 Yaning Jia, Wenmiao Liu, Jingli Wang, Ru Zhang, Monong Li, Shiguo Liu
Al Kaissi syndrome, a rare autosomal recessive genetic disorder, is characterized by intellectual disability, abnormal facial features, growth retardation, and spinal deformity, caused by CDK10 mutations. CDK10 can interact with Cyclin M (CycM) to form an active protein kinase which was proven a key repressor of ciliogenesis. Herein, we identified a novel homozygous deletion of SPATA33 exon3 and CDK10
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Leser–Trélat sign simulating pemphigus QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-31 W -T Hu, Y -Y Ma
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Tick-borne encephalitis—a substantial increase in cases in Western Europe QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-28 Seamas C Donnelly
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Factors associated with hospital admissions in patients with dementia QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-24 B J -W Tan, L -L Chan, E -K Tan
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Intralobar pulmonary sequestration QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-19 S Sarkar, A Girija, R Shirgaonkar, P R Mohapatra
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Correspondence on ‘Suicidal ideation and associated risk factors among COVID-19 patients’ QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-19 C -C Tung, I-M Jou, R Chang
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Annular syphilis: atypical secondary syphilis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-12 P Gupta, Madhusmita Sethy, V Thakur
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Emergency care accessibility for undocumented migrants in Japan: why are they not covered? QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-12 S Supakul, K Yasukawa, T Asaka, A Nakamura, P Jaroongjittanusonti, A Ozaki, T Sawada
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Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1) QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-10 C Liang, R Xiang, S -H Chang, M -W Liu, J -Y Jin
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A novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-10 Qingqing Liu, Xiaoqin Ju, Ting Guo, Hong Peng
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The Evolving Spectrum of Human African Trypanosomiasis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-09 Peter Ge Kennedy
Human African trypanosomiasis (HAT), or sleeping sickness, continues to be a major threat to human health in 36 countries throughout sub-Saharan Africa with up to 60 million people at risk. Over the last decade there have been several advances in this area, some of which are discussed in this overview. Due to the concerted efforts of several bodies, including better identification and treatment of
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Suicide in individuals with no psychiatric disorders—what makes you vulnerable? QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-08 Leo Sher
Globally, hundreds of thousands of people die by suicide every year. Suicides are usually associated with psychiatric illness. However, considerable evidence suggests that a significant number of individuals who die by suicide do not have diagnosable psychiatric disorders. The goal of this article is to attract attention to an overlooked issue of suicide in persons with no psychiatric disorders and
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Systemic amyloidosis presented with leonine facies QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-07 Jia-Wei Liu, Yan Tan, Tian Chen, Yue-Tong Qian, Dong-Lai Ma
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Response to: Distinguish inverse Gottron’s papules and inverse Gottron’s sign in anti-MDA5 dermatomyositis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-07 T Suda
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Spodick’s sign in pericarditis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-07 Z Wei, J -G Lin, F Xu, Y -T Zhao
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Distinguish inverse Gottron’s papules and inverse Gottron’s sign in anti-MDA5 dermatomyositis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-07 W Lin, H Yin, L Lu
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Social determinants of health and clinical outcomes among patients with atrial fibrillation. Evidence from a global federated health research network QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-07 Amalie H Simoni, Tommaso Bucci, Giulio Francesco Romiti, Juliane Frydenlund, Søren Paaske Johnsen, Azmil H Abdul-Rahim, Gregory Y H Lip
Background Few studies have investigated the role of SDoH in patients with atrial fibrillation (AF). Aim To investigate the relationship between SDoH and adverse events in a large multinational AF cohort. Design Retrospective study utilizing a global federated health research network (TriNetX). Methods Patients with AF were categorized as socially deprived defined according to ICD codes based on three
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Before Leigh syndrome can be attributed to m.1608G≥A in MT-TV, its pathogenicity must be confirmed QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-01 J Finsterer
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Reply to the letter to the editor regarding ‘Adult-onset Leigh’s syndrome: a rare cause of young-onset parkinsonism with dystonia’ by Saluja et al. QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-01 A Saluja
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Spinal Bulbar Muscular Atrophy -Kennedy's Disease QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-12-01 Xiao Deng, Eng-King Tan
A middle age man complained of progressive bilateral hand tremor and occasional muscle cramps. Examination showed tongue muscle atrophy and limb muscle fasciculation with resting and postural tremor in the upper extremities. Deep tendon reflexes were decreased. He had bilateral breast enlargement. Nerve conduction study and Electromyography revealed chronic sensory-motor neuropathy. DNA analysis identified
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Deadly electrocardiogram pattern in Takotsubo syndrome: shark fin sign QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-30 Z Wei, J -G Lin, F Xu, Y -T Zhao
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Sclerosing Mesenteritis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-30 Ami Schattner, Irene Yoffe, Livnat Uliel, Robert Huber
A patient with light chain multiple myeloma and no evidence of disease following autologous bone marrow transplantation, developed asymptomatic mass in the right lower quadrant mesentery, which increased in size and showed FDG uptake on PET CT. The only other change of note on imaging was chronic appendicitis, confirmed on surgery and pathology. Suspecting a neoplastic mass in the mesentery, surgical
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Tzanck smear: revisiting the basics QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-28 Gayathri S, Shreya Srinivasan, N Ashok Kumar, Manoharan K, Kavya Rajeev
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Mental health in healthcare workers and patient families in these COVID times QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-25 Seamas C Donnelly
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Groove sign in eosinophilic fasciitis QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-22 Y Ueda, S Matsubara
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Pneumomediastinum Complicating Acute Asthma QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-21 Margaret Gleeson, Tom McEnery, Sean Gaine
Presentation A 19 year old female with a history of asthma presented with an acute life-threatening asthma exacerbation. Diagnosis Atypical features, particularly a persistent oxygen requirement promted further investigation with a subsequent CT Thorax confirming pneumomediastinum. Treatment Her case was managed conservatively as per our treatment proctocol for asthma. Discussion Pneumomediastinum
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Effective early strategy to prevent olfactory and gustatory dysfunction in COVID-19: A randomized controlled trial QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-21 Qi Jing, Jian Song, Guanghui An, Enzhao Zhu, Zisheng Ai, Lize Xiong, Cheng Li
Background Olfactory and gustatory dysfunctions (OGDs) are key symptoms of COVID-19, which may lead to neurological complications, and lack of effective treatment. This may be because post-disease treatments may be too late to protect the olfactory and gustatory functions. Aim To evaluate the effectiveness of early use of saline nasal irrigation (SNI), corticosteroid nasal spray, and saline or chlorhexidine
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T-wave alternans and torsades de pointes in a patient with leukemia treated with arsenic trioxide QJM An Int. J. Med. (IF 13.3) Pub Date : 2023-11-20 Z Wei, F Xu, Y -T Zhao