keyword
https://read.qxmd.com/read/38528663/a-retrospective-study-of-the-presentation-and-management-of-perianal-disease-in-hiv-positive-patients-referred-to-a-surgical-outpatient-unit-in-turkey
#21
JOURNAL ARTICLE
Omer Faruk Buk, Gultekin Ozan Kucuk
BACKGROUND The incidence of human immunodeficiency virus (HIV) infection is on the rise, and perianal region diseases in HIV-infected patients have become increasingly prevalent. This study aimed to analyze the surgical treatment outcomes of HIV-infected patients presenting with perianal concerns. MATERIAL AND METHODS We included 311 HIV-positive patients admitted to the Infectious Diseases Clinic of Samsun Training and Research Hospital between January 2014 and December 2022. From this group, we selected those who sought care at the general surgery outpatient clinic for perianal and anal concerns, retrospectively reviewing their medical records...
March 26, 2024: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://read.qxmd.com/read/38528535/predicting-factors-for-acute-encephalopathy-in-febrile-seizure-children-with-sars-cov-2-omicron-variant-a-retrospective-study
#22
JOURNAL ARTICLE
Ching-Min Tang, Cheng-Yen Kuo, Chen-Wei Yen, Jainn-Jim Lin, Yu-Chia Hsieh, Shao-Hsuan Hsia, Oi-Wa Chan, En-Pei Lee, Po-Cheng Hung, Huei-Shyong Wang, Kuang-Lin Lin, Cheng-Hsun Chiu
BACKGROUND: SARS-CoV-2 posed a threat to children during the early phase of Omicron wave because many patients presented with febrile seizures. The study aimed to investigate predicting factors for acute encephalopathy of children infected by SARS-CoV-2 Omicron variant presenting with febrile seizures. METHODS: The retrospective study analyzed data from pediatric patients who visited the emergency department of Chang Gung Memorial Hospital in Taiwan between April and July 2022...
March 25, 2024: BMC Pediatrics
https://read.qxmd.com/read/38528196/nonocclusive-mesenteric-ischemia-nomi-on-roux-limb-after-biliary-reconstruction-successfully-treated-by-interventional-radiology-ivr
#23
JOURNAL ARTICLE
Makoto Kawamoto, Yoshihiro Miyasaka, Nobuhiko Koreeda, Yousuke Hirano, Ryotaro Yamamoto, Masato Watanabe
Nonocclusive mesenteric ischemia (NOMI) is a life-threatening disorder. Early diagnosis is challenging because NOMI lacks specific symptoms. A 52-year-old man who received extended cholecystectomy with Roux-en-Y hepaticojejunostomy for gallbladder cancer (GBC) presented to our hospital with nausea and vomiting. Neither tender nor peritoneal irritation sign was present on abdominal examination. Blood test exhibited marked leukocytosis (WBC:19,800/mm3). A contrast-enhanced abdominal computed tomography (CT) scan revealed remarkable wall thickening and lower contrast enhancement effect localized to Roux limb...
March 25, 2024: Clinical Journal of Gastroenterology
https://read.qxmd.com/read/38527509/-clinical-and-genetic-spectrum-of-6-cases-with-asparagine-synthetase-deficiency
#24
JOURNAL ARTICLE
P P Song, X L Zhang, X L Li, D Xu, J L Wang, M M Chu, M Y Wang, T M Jia, K X Du, Y Dong
Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527508/-diagnosis-and-treatment-of-arrhythmogenic-cardiomyopathy-in-children
#25
JOURNAL ARTICLE
W Q Ye, Y Y Xiao, X K Jiang, M Jin, X F Wang, W W Ding
Objective: To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children. Methods: A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022. Results: A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527507/-analysis-of-9-patients-with-adolescence-onset-methylenetetrahydrofolate-reductase-deficiency
#26
JOURNAL ARTICLE
H T Zhang, X Ma, Y Jin, M Q Li, J Q Song, Z H Chen, Y Liu, X P Lu, H Zheng, Y L Yang
Objective: To explore the diagnosis and treatment of adolescence-onset methylenetetrahydrofolate reductase (MTHFR) deficiency. Methods: This was a retrospective case study. Nine patients with adolescence-onset MTHFR deficiency were diagnosed at Peking University First Hospital from January 2016 to December 2022, and followed up for more than 1 year. Their general information, clinical manifestations, laboratory tests, cranial images, MTHFR gene variants, diagnosis, treatment, and outcome were analyzed retrospectively...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527500/-a-multicenter-study-on-respiratory-pathogen-detection-with-mycoplasma-pneumoniae-pneumonia-in-children
#27
JOURNAL ARTICLE
X Y Dong, Y X Zou, F F Lyu, W H Yang, H L Zhang, Y H Niu, H J Wang, R Guo, X Wang, L Li, Z H Lin, L Luo, D L Lu, Q Lu, H M Liu, L N Chen
Objective: To analyze the status of respiratory pathogen detection and the clinical features in children with Mycoplasma pneumoniae pneumonia (MPP). Methods: A prospective, multicenter study was conducted to collect clinical data, including medical history, laboratory examinations and multiplex PCR tests of children diagnosed with MPP from 4 hospitals in China between November 15th and December 20th , 2023. The multiplex PCR results and clinical characteristics of MPP children in different regions were analyzed...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/38527446/kidney-failure-secondary-to-hereditary-xanthinuria-due-to-a-homozygous-deletion-of-the-xdh-gene-in-the-absence-of-overt-kidney-stone-disease
#28
Pedro Lisboa Gonçalves, Hugo Diniz, Isabel Tavares, Sofia Dória, Juan Dong, McKenna Kyriss, Lynette Fairbanks, João Paulo Oliveira
Hereditary xanthinuria (HXAN) is a rare metabolic disorder that results from mutations in either the xanthine dehydrogenase (XDH) or the molybdenum cofactor sulfurase genes (MOCOS), respectively defining HXAN type I and type II. Hypouricemia, hypouricosuria, and abnormally high plasma and urine levels of xanthine, causing susceptibility to xanthine nephrolithiasis and deposition of xanthine crystals in tissues, are the metabolic hallmarks of HXAN. Several pathogenic variants in the XDH gene have so far been identified in patients with HXAN type I, but the clinical phenotype associated with the whole deletion of the human XDH gene is unknown...
March 25, 2024: Nephron
https://read.qxmd.com/read/38527227/dna-variants-detected-in-primary-and-metastatic-lung-adenocarcinoma-a-case-report-and-review-of-the-literature
#29
JOURNAL ARTICLE
Christina Kelly, Caitlin Raymond, Song Han, Youmin Lin, Linyijia Chen, Gengming Huang, Jianli Dong
Non-small cell lung cancer (NSCLC) has been found to have recurrent genetic abnormalities, and novel therapies targeting these aberrations have improved patient survival. In this study, specimens from benign tissue, primary tumors, and brain metastases were obtained at autopsy from a 55-year-old White female patient diagnosed with NSCLC and were examined using next-generation sequencing (NGS) and chromosomal microarray assay (CMA). No genetic aberrations were noted in the benign tissue; however, NGS identified a mutation in the KRAS proto-oncogene, GTPase (KRAS): KRAS exon 2 p...
March 25, 2024: Laboratory Medicine
https://read.qxmd.com/read/38527169/interobserver-reproducibility-of-cervical-histology-interpretation-with-and-without-p16-immunohistochemistry
#30
JOURNAL ARTICLE
Amy S Tao, Rosemary Zuna, Teresa M Darragh, Niels Grabe, Bernd Lahrmann, Megan A Clarke, Nicolas Wentzensen
OBJECTIVES: Histopathological diagnosis of colposcopically identified cervical lesions is a critical step for the recognition of cervical cancer precursors requiring treatment. Although there have been efforts to standardize the histologic diagnosis of cervical biopsy specimens, in terms of terminology and use of biomarkers, there is no uniform approach in the pathology community. Adjunctive p16 immunohistochemistry (IHC) can highlight precancer diagnoses, with use recommendations outlined by the Lower Anogenital Squamous Terminology project...
March 25, 2024: American Journal of Clinical Pathology
https://read.qxmd.com/read/38527168/four-distinct-ipsilateral-vestibular-schwannomas-a-case-of-mosaic-nf2-related-schwannomatosis
#31
JOURNAL ARTICLE
Alexandra E Tunkel, Emily R Youner, Hayk Barseghyan, Yulong Fu, Surajit Bhattacharya, Miriam Bornhorst, Ashkan S Monfared
OBJECTIVES: Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis. METHODS: We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC)...
March 25, 2024: American Journal of Clinical Pathology
https://read.qxmd.com/read/38527010/establishment-of-reference-interval-for-hemoglobin-a1c-and-other-hemoglobin-subfractions-for-healthy-saudi-adults
#32
JOURNAL ARTICLE
Anwar Borai, Kiyoshi Ichihara, Suhad Bahijri, Abeer Alsofyani, Mohieldin Elsayid, Haitham Husain, Sultanah Boraie, Naif Sannan, Ziad Kalantan, Majdi Jan, Maha Gassas, Mohammed Harbi, Norah Alrowaili, Mohammed Almohammadi, Hawazen Zarif, Mansour Qurashi
BACKGROUND: The establishment of Reference Intervals (RIs) for Hemoglobin A1C and other hemoglobin subfractions (A1A, A1B, F, LA1C, A0) is of utmost importance in screening, diagnosing, and monitoring diabetes and other hemoglobin abnormalities through the application of high-pressure liquid chromatography (HPLC) technique. Because there are no locally established RIs for these parameters, it is essential to establish RIs specific to the Saudi population to accurately diagnose and monitor diabetic individuals and identify abnormal levels in hemoglobin subfractions...
2024: PloS One
https://read.qxmd.com/read/38525512/prognostic-factors-and-real-life-applicability-of-prognostic-models-for-patients-with-bone-metastases-of-carcinoma
#33
JOURNAL ARTICLE
Kaan Ali Dalkir, Akif Mirioglu, Bugra Kundakci, Melih Bagir, Mehmet Ali Deveci, Hilmi Serdar Ozberlas
OBJECTIVE: This study aimed to investigate the factors affecting the survival of patients with bone carcinoma metastases and assess the clinical applicability of existing prognostic models. METHODS: We retrospectively evaluated 247 patients who presented to our hospital between 2011 and 2021 diagnosed with bone carcinoma metastasis. Demographic data, general health status, primary diagnoses, laboratory and radiological findings, pathological fracture status, treatment methods, and survival times of the patients were recorded, and the effects of these variables on survival time were evaluated...
January 2024: Acta Orthopaedica et Traumatologica Turcica
https://read.qxmd.com/read/38524771/familial-congenital-lower-urinary-tract-obstruction-luto-suggested-by-screening-for-lower-urinary-tract-dysfunction-in-parents-of-patients-a-descriptive-study
#34
JOURNAL ARTICLE
Fabian Ebach, Pauline Wagner, Raimund Stein, Ramona Dolscheid-Pommerich, Heiko Reutter, Alina C Hilger
BACKGROUND: Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common entity. Familial occurrence has been described, suggestive of underlying genetic factors. LUTO can occur in various degrees of severity. In severe forms, oligohydramnios, pulmonary hypoplasia, and renal damage can occur resulting in high pre- and postnatal mortality. On the contrary, mild forms may become apparent through recurrent urinary tract infections...
March 2024: Health Science Reports
https://read.qxmd.com/read/38524621/novel-homozygous-mutations-in-aire-leading-to-aps-1-and-potential-mechanisms-based-on-bioinformatics-analysis
#35
JOURNAL ARTICLE
Huiping Wu, Yiqi Mo, Shiwen Yu, Xiaojun Ye, Yili Lu, Chaoban Wang, Xiaoou Shan
BACKGROUND: Autoimmune Poly-endocrine Syndrome Type 1 (APS-1), also known as autoimmune poly-endocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a single-gene hereditary disorder usually characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenocortical insufficiency. This syndrome is very rare in China. METHODS: For our reported patient, we employed clinical and laboratory examinations along with genetic identification...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38524514/relevance-of-sleep-for-wellness-new-trends-in-using-artificial-intelligence-and-machine-learning
#36
EDITORIAL
Deb Sanjay Nag, Amlan Swain, Seelora Sahu, Abhishek Chatterjee, Bhanu Pratap Swain
Sleep and well-being have been intricately linked, and sleep hygiene is paramount for developing mental well-being and resilience. Although widespread, sleep disorders require elaborate polysomnography laboratory and patient-stay with sleep in unfamiliar environments. Current technologies have allowed various devices to diagnose sleep disorders at home. However, these devices are in various validation stages, with many already receiving approvals from competent authorities. This has captured vast patient-related physiologic data for advanced analytics using artificial intelligence through machine and deep learning applications...
March 6, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38524506/clinical-characteristics-of-testicular-torsion-and-factors-influencing-testicular-salvage-in-children-a-12-year-study-in-tertiary-center
#37
JOURNAL ARTICLE
Xiang-Hui Gang, Yuan-Yuan Duan, Bin Zhang, Zheng-Gan Jiang, Rong Zhang, Jun Chen, Xiang-Yu Teng, Duo-Bing Zhang
BACKGROUND: Testicular torsion is the most common acute scrotum worldwide and mainly occurs in children and adolescents. Studies have demonstrated that the duration of symptoms and torsion grade lead to different outcomes in children diagnosed with testicular torsion. AIM: To predict the possibility of testicular salvage (TS) in patients with testicular torsion in a tertiary center. METHODS: We reviewed the charts of 75 pediatric patients with acute testicular torsion during a 12-year period from November 2011 to July 2023 at the Suzhou Hospital of Anhui Medical University...
March 6, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38524306/ensemble-fusion-model-for-improved-lung-abnormality-classification-leveraging-pre-trained-models
#38
JOURNAL ARTICLE
Suresh Kumar Samarla, Maragathavalli P
Lung abnormalities pose significant health concerns, underscoring the need for swift and accurate diagnoses to facilitate timely medical intervention. This study introduces a novel methodology for the sub-classification of lung abnormalities within chest X-rays captured via smartphones. An accurate and timely diagnosis of lung abnormalities is essential for the successful implementation of appropriate therapy. In this paper, we propose a novel approach using a Convolutional neural network (CNN) with three maximum pooling layers and early fusion for sub-classifying lung abnormalities from chest Xrays...
June 2024: MethodsX
https://read.qxmd.com/read/38524091/retrospective-observational-study-to-assess-safety-and-tolerability-of-nebulized-colistin-for-the-treatment-of-patients-with-pneumonia-in-real-world-settings-in-respiratory-icu
#39
JOURNAL ARTICLE
Deepak Talwar, Deepak Prajapat, Surbhi Talwar, Dhruv Talwar
INTRODUCTION: Colistin is used to treat hospital-acquired pneumonia and ventilator-associated pneumonia. However, direct drug deposition at the site of infection may improve its efficacy and reduce systemic exposure. The aim of this study was to assess the safety and tolerability of nebulized colistin among Indian patients diagnosed with pneumonia caused by multidrug-resistant gram-negative bacilli in real-world settings. METHODOLOGY: We retrospectively reviewed the medical records of patients treated with nebulized colistin for pneumonia...
February 2024: Curēus
https://read.qxmd.com/read/38523856/encephalopathy-after-a-high-dose-dexamethasone-suppression-test-in-a-woman-with-x-linked-ornithine-transcarbamylase-deficiency
#40
Hyunho Seol, Yoon Hee Hong, Min Ji Jeon
BACKGROUND/OBJECTIVE: The high-dose dexamethasone suppression test is a common and usually benign endocrine procedure. We report a patient with ornithine transcarbamylase deficiency (OTCD) who developed hyperammonemic encephalopathy after a high-dose dexamethasone suppression test. CASE REPORT: A 46-year-old woman with a 1.3-cm right adrenal incidentaloma causing mild autonomous cortisol secretion underwent a high-dose dexamethasone suppression test for confirming adrenocorticotropic hormone independency...
2024: AACE Clinical Case Reports
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