Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

“…Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. The patient’s clinical manifestations, coupled with the presence of café-au-lait spots and axillary freckles, supported the diagnosis of NF1. …”
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Improved Culture Positivity Rate after Modified Culture Technique of Dialysis Effluent Fluid in Peritoneal Dialysis-related Peritonitis Cases by Shilpi Gupta, Nandita Hazra

“…After the intervention, the culture negativity rate dropped from 68.7% to 8.3%. …”
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Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena by Gülseren Evirgen Şahin, Ferda Özbay Hoşnut, Şule Yeşil, Naz Güleray Lafcı, Aylin Ege Gül, Gürses Şahin

“…Genetic studies revealed a known pathogenic nonsense mutation confirming the initial diagnosis of CS. …”
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Antigen-Based Immune Therapeutics for Type 1 Diabetes: Magic Bullets or Ordinary Blanks? by Slobodan Culina, Christian Boitard, Roberto Mallone

“…Immune therapy of Type 1 diabetes (T1D) is no exception, and knowledge of the antigens targeted by pathogenic T cells offers a unique opportunity towards this goal. …”
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Diagnosing late-onset PKU in the shadow of refractory seizures by Ameer Awashra, MD, Haroun Neiroukh, MD, Aya Milhem, MD, Dawoud Hamdan, MD, Asmaa Sarama, MD, Tasneem Dweikat, MD, Alaa Hmeedan, MD, Samih Khader, MD

“…Whole-exome sequencing revealed compound heterozygous mutations in the PAH gene, confirming late-diagnosed PKU. The presence of pathogenic mutations in distinct locations within the PAH gene suggests the patient is a compound heterozygote, confirming a rare, late-diagnosed case of PKU. …”
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Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review by Olga P. Parshina, Anastasiia A. Buianova, Svetlana V. Mikhaylova, Sergey V. Piliya, Alikhan A. Alikhanov, Elena K. Donyush, Zinaida A. Kondrashova, Nadezhda V. Liakhova, Oleg N. Suchalko, Alina F. Samitova, Anna O. Shmitko, Mayya V. Zazhivikhina, Natalya A. Votyakova, Dmitriy O. Korostin

“…The disease was caused by a previously undescribed pathogenic variant CLN5(NM_006493.4):c.368del (p.Arg123LysfsTer4). …”
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Dynamics of Onset and Progression in Amyotrophic Lateral Sclerosis by Michael Swash, Mamede de Carvalho

“…This review focuses on the complexities of amyotrophic lateral sclerosis (ALS) onset, highlighting the insidious nature of the disease and the challenges in defining its precise origin and early pathogenic mechanisms. The clinical presentation of ALS is characterised by progressive muscle weakness and wasting, often with widespread fasciculations, reflecting lower motor neuron hyperexcitability. …”
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Retinal vascular proliferation with fibrotic regression in von Hippel–Lindau disease by Jing-Yi Chen, Hung-Da Chou, An-Ning Chao, Chi-Chun Lai, Mandeep S. Sagoo

“…The genetic testing identified a pathogenic missense mutation (c. 223A > G) within the VHL gene, confirming VHL disease. …”
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The Role of Inflammation in Cancer: Mechanisms of Tumor Initiation, Progression, and Metastasis by Atsushi Nishida, Akira Andoh

“…Inflammation is an essential component of the immune response that protects the host against pathogens and facilitates tissue repair. Chronic inflammation is a critical factor in cancer development and progression. …”
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Risk factors of pan-vascular diseases and their interactions by Wei Shulin, Zhou Yongwen, Xu Suowen, Weng Jianping

“…By elucidating the independent or shared pathogenic mechanisms of multiple risk factors, this review summarizes the important evidence for early intervention, comprehensive management, muti-targeted therapies, and ultimately the reduction or delay of the occurrence and pregression of pan-vascular disease.…”
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Genomics-based timely detection of dengue virus type I genotypes I and V in Uruguay by Noelia Morel, Marta Giovanetti, Vagner Fonseca, Analía Burgueño, Mauricio Lima, Emerson Castro, Natália R. Guimarães, Felipe C.M. Iani, Victoria Bormida, Maria Noel Cortinas, Viviana Ramas, Leticia Coppola, Ana I. Bento, Alexander Rosewell, Leticia Franco, Jairo Mendez Rico, José Lourenço, Luiz Carlos Junior Alcantara, Hector Chiparelli

“…This study details a genomics-based approach for the early detection of mosquito-borne pathogens, marked by Uruguay's first ever complete genomic sequencing of Dengue Virus type I genotypes I and V. …”
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On-going issues regarding biofilm formation in meat and meat products: challenges and future perspectives by Humaun Oliulla, Md Furkanur Rahaman Mizan, Iksoon Kang, Sang-Do Ha

“…Generally, foodborne pathogens form biofilms in various areas of meat-processing plants, and adequate sanitization of these areas is challenging owing to the high tolerance of biofilm cells to sanitization compared with their planktonic states. …”
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Effect of anthocyanins on metabolic syndrome through interacting with gut microbiota by Lanlan Du, Xiaoqin Ding, Yuwen Tian, Jian Chen, Weilin Li

“…Metabolic syndrome, as a complex pathological condition, is caused by a series of pathogenic factors and has become a global public health challenge. …”
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From tumor microenvironment to ocular hypertension: unraveling the pathogenesis and therapeutic strategies of cancer-related glaucoma by Bin Lin, Bin Lin, Bin Lin, Bin Lin, Bin Lin, Bin Lin, Dong-kan Li, Dong-kan Li, Dong-kan Li, Dong-kan Li, Dong-kan Li, Dong-kan Li

“…Cancer-related glaucoma, a severe complication caused by primary or metastatic tumors and their treatments, has complex pathogenic mechanisms. This review aims to clarify the risk factors, classification, diagnosis, and treatment progress of this glaucoma type. …”
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Presence of blaCTX-M antibiotic resistance gene in Lactobacillus spp. isolated from Hirschsprung diseased infants with stoma by Umama Khan, Sadia Afsana, Maria Kibtia, Mahboob Hossain, Naiyyum Choudhury, Chowdhury Rafiqul Ahsan

“… Introduction: Although antibiotics have revolutionized health care by saving lives, the evolution of both pathogenic and commensal antibiotic-resistant bacteria are emerging as a threat in the health sector. …”
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The Impact of Synbiotics on the Bacterial Flora During the Course of Chronic Sinusitis by Karolina Goroszkiewicz, Grażyna Lisowska, Grażyna Stryjewska-Makuch, Olga Karłowska-Bijak, Maciej Misiołek

“…<i>Results</i>: Patients receiving synbiotics showed a significant reduction in pathogenic bacterial colonies postoperatively compared to the control group. …”
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Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review by Yuki Kobayashi, Takeya Adachi, Umi Tahara, Moemi Tanaka, Hiroki Arakawa, Yohei Funatsu, Kazunori Moritani, Mamiko Yamada, Kenjiro Kosaki, Toyoko Inazumi

“…We encountered two patients with NS carrying RIT1 pathogenic variants, who were treated for recurrent lower leg cellulitis since their teenage years, which occasionally progressed to sepsis. …”
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Expanding the diagnostic spectrum of malignant otitis externa: a case report of proteus infection in a non-immunosuppressed patient by Fabián Darío Arias Rodríguez, Mercedes Larenas, Santiago Paredes, Guillermina Giuliano, Andrés López-Cortés, Juan S. Izquierdo-Condoy

“…It emphasizes the need to consider uncommon pathogens and atypical clinical profiles in MOE. Early diagnosis, microbiological confirmation, and tailored antimicrobial therapy were critical for favorable outcomes.…”
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Early pharmacological blockade of the CXCL12-CXCR4 axis attenuates vertebral hypercalcification in a zebrafish model of pseudoxanthoma elasticum by Jianjian Sun, Jichang Huang, Renjie Zhang, Shubin Zhang, Tao P. Zhong, Ping Zhu

“…Pseudoxanthoma elasticum (PXE), caused by pathogenic variants in ABCC6, is characterized by pathological ectopic calcification with poorly understood mechanisms and no effective therapies. …”
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Rapid and sensitive detection of human adenovirus types 3 and 7 using CRISPR-Cas12b coupled with multiple cross displacement amplification by Xinbei Jia, Linglong Wan, Fei Xiao, Xiaolan Huang, Juan Zhou, Yi Wang, Jun Tai

“…Specificity was validated by testing against non-HAdV pathogens, while sensitivity was assessed using serial dilutions of hexon-containing plasmid DNA. …”
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