Journal Description
Diseases
Diseases
is an international, peer-reviewed, open access, multidisciplinary journal which focuses on the latest and outstanding research on diseases and conditions published monthly online by MDPI. The first issue is released in 2013.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, CAPlus / SciFinder, and other databases.
- Journal Rank: JCR - Q2 (Medicine, Research and Experimental)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 18.9 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the first half of 2024).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
- Sections: published in 7 topical sections.
Impact Factor:
2.9 (2023)
Latest Articles
Inflammatory Prostatitis Plus IBS-D Subtype and Correlation with Immunomodulating Agent Imbalance in Seminal Plasma: Novel Combined Treatment
Diseases 2024, 12(10), 260; https://doi.org/10.3390/diseases12100260 - 18 Oct 2024
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We recently demonstrated the effectiveness of long-term treatment with rifaximin and the probiotic DSF (De Simone formulation) in improving urogenital and gastrointestinal symptoms in patients with both chronic inflammatory prostatitis (IIIa prostatitis) and diarrhea-predominant irritable bowel syndrome (IBS-D), relative to patients with IBS-D
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We recently demonstrated the effectiveness of long-term treatment with rifaximin and the probiotic DSF (De Simone formulation) in improving urogenital and gastrointestinal symptoms in patients with both chronic inflammatory prostatitis (IIIa prostatitis) and diarrhea-predominant irritable bowel syndrome (IBS-D), relative to patients with IBS-D alone. Because the low-grade inflammation of the intestine and prostate may be one of the reasons for co-developing both IIIa prostatitis and IBS-D, we designed the present study to once again evaluate the efficacy of combined rifaximin and DSF treatment in patients affected by IIIa prostatitis plus IBS-D, but we also measured seminal plasma pro-inflammatory (IL-6) and anti-inflammatory (IL-10) cytokines before and after treatment. Methods: We consecutively enrolled 124 patients with IIIa prostatitis and IBS-D (diagnosed using the Rome III criteria). Patients were randomized into two groups: group A (n = 64) was treated with rifaximin (seven days per month for three months) followed by DSF, and group B (n = 60) was treated with a placebo. By the end of the intervention, 68.7% and 62.5% of patients from group A reported improved NIH-CPSI (National Institute of Health’s Chronic Prostatitis Symptom Index) and IBS-SSS (Irritable Bowel Syndrome Severity Scoring System) scores, respectively, compared to only 3.3% and 5% of the placebo group. Group A patients also had significantly lower mean seminal plasma levels of IL-6 (11.3 vs. 32.4 pg/mL) and significantly higher mean levels of IL-10 (7.9 vs. 4.4 pg/mL) relative to baseline, whereas the levels of IL-6 and IL-10 did not change in the placebo group. Conclusions: The combined treatment with rifaximin and DSF appears to represent the optimal approach for addressing a syndrome such as irritable bowel syndrome (IBS-D plus), which frequently co-occurs with prostatitis (IIIa prostatitis). This approach is particularly beneficial in cases where the symptoms are not always clearly delineated, the etiology is multifactorial, and the diagnosis is multilevel.
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Open AccessCase Report
Large Neuroendocrine Neoplasms of the Duodenum: Description of Two Rare Subtypes and Technical Details on Surgical Treatment
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Giorgio Lucandri, Giulia Fiori, Flaminia Genualdo, Francesco Falbo, Andrea Biancucci, Vito Pende, Paolo Mazzocchi, Massimo Farina, Domenico Campagna and Emanuele Santoro
Diseases 2024, 12(10), 259; https://doi.org/10.3390/diseases12100259 - 18 Oct 2024
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Background: Duodenal neuroendocrine tumors (NETs) are uncommon, accounting for less than 4% of all gastrointestinal neoplasms. Prognosis is related to tumoral staging and grading, as well as to the specific subtype. In this article, we retrospectively describe the clinical presentation and surgical treatment
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Background: Duodenal neuroendocrine tumors (NETs) are uncommon, accounting for less than 4% of all gastrointestinal neoplasms. Prognosis is related to tumoral staging and grading, as well as to the specific subtype. In this article, we retrospectively describe the clinical presentation and surgical treatment of two rare large duodenal NETs: a high-grade G3 NET and a Gangliocytic Paraganglioma (GP). Methods: Both patients presented with moderate-to-high-degree abdominal pain, without jaundice. Main vessel involvement and metastatic spread were excluded with imaging, while preoperative bioptic diagnosis was obtained via percutaneous needle citology and endoscopic ultrasound. Results: The presence of a sessile large lesion contraindicated any conservative approach in favor of a pancreaticoduodenectomy (PD). The detection of soft pancreatic tissue and a narrowed main pancreatic duct led us to perform a pancreaticogastrostomy to restore proper pancreatic drainage and to minimize the risk of postoperative leakage. Conclusion: PD may be a favorable choice in these cases; this procedure is challenging, but it results in a safer and more favorable clinical outcome for our patients. Pancreaticogastrostomy may guarantee lower rates of postoperative leak and appears to be preferred in this subset of patients.
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Open AccessCase Report
External Carotid Artery Entrapment by the Hyoid Bone Associated with an Atherosclerotic Stenosis of the Internal Carotid Artery
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Grigol Keshelava, Zurab Robakidze and Devi Tsiklauri
Diseases 2024, 12(10), 258; https://doi.org/10.3390/diseases12100258 - 18 Oct 2024
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The mechanical compression of an external carotid artery (ECA) is a rare pathology. The compression of the carotid bifurcation can be positional, induced by anatomical elements, or provoked by volumetric formation in the neck area. In this study, we describe a rare case
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The mechanical compression of an external carotid artery (ECA) is a rare pathology. The compression of the carotid bifurcation can be positional, induced by anatomical elements, or provoked by volumetric formation in the neck area. In this study, we describe a rare case of an entrapment of the ECA. A 67-year-old man who had two episodes of transient ischemic attack (TIA) demonstrated by loss of consciousness was transferred to our hospital. Ultrasonography and computed tomography revealed the atherosclerotic stenosis (80%) of a right internal carotid artery (ICA) and, at the same time, entrapment of the right ECA by the elongated right greater horn of the hyoid bone (GHHB). A 1 cm section of the GHHB was resected. After clamping of the carotid arteries, longitudinal arteriotomy and endarterectomy surgeries were performed from the right ICA. At the two months follow-up examination, the patient’s condition was reported as normal, with no episodes of TIA, dysphagia, or pharyngeal discomfort.
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Open AccessArticle
Total Neoadjuvant Therapy in Locally Advanced Rectal Cancer: Insights from the Western Australian Context
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Oliver Oey, Chak Pan Lin, Muhammad Adnan Khattak, Thomas Ferguson, Mary Theophilus, Siaw Sze Tiong, Sayed Ali and Yasir Khan
Diseases 2024, 12(10), 257; https://doi.org/10.3390/diseases12100257 - 17 Oct 2024
Abstract
Background: Recent studies have associated total neoadjuvant therapy (TNT) with better treatment adherence, decreased toxicity, improved complete clinical response and anal sphincter preservation rates in patients with locally advanced rectal cancer (LARC). However, real-world experience with TNT in the management of LARC remains
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Background: Recent studies have associated total neoadjuvant therapy (TNT) with better treatment adherence, decreased toxicity, improved complete clinical response and anal sphincter preservation rates in patients with locally advanced rectal cancer (LARC). However, real-world experience with TNT in the management of LARC remains limited. Aim: This study aimed to evaluate the efficacy and safety outcomes of TNT for LARC in Western Australia. Methods: Patients with LARC (cT2-4 and/or cN1-2) who underwent induction chemotherapy followed by neoadjuvant chemoradiotherapy or neoadjuvant chemoradiotherapy followed by consolidation chemotherapy, followed by surgery were recruited from two hospitals in Western Australia. Efficacy outcomes assessed included clinical response (complete, partial, no response), and pathologic complete response (pCR) rate, R0 resection rate, and R1 resection rate were evaluated. Those patients who achieved clinical complete response following TNT were given the option of active surveillance. The safety and tolerability of TNT were assessed. Results: 32 patients with LARC were treated with TNT. In total, 17 patients (53%) received chemoradiotherapy followed by consolidation chemotherapy and 15 patients (47%) received induction chemotherapy followed by chemoradiotherapy. Nine (28%) of the patients with LARC treated with TNT had a complete clinical response, twenty-one (66%) patients had a partial clinical response, and two (6%) patients had no response to TNT. Of the 32 patients, 27 (84%) underwent surgery. There was a 100% R0 resection rate. The pCR rate was 15%. pCR, clinical response, and the R0 resection rate were similar between the two TNT regimens. TNT was well tolerated, with the majority of patients (88%) completing the chemotherapy course with grade 1 and 2 adverse effects. Conclusions: In conclusion, TNT emerges as a promising approach for the management of LARC. However, further research is warranted to refine the optimal TNT protocols, determine its long-term outcomes, and identify patient populations who would benefit the most from this innovative therapeutic strategy.
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(This article belongs to the Special Issue Diagnosis and Treatment of Upper and Lower Gastrointestinal Malignancies: Current Advances and Future Prospects)
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Open AccessBrief Report
An Analysis of the Use of Topical Ocular Anti-Infectives in Galicia (Spain) between 2020 and 2023
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Severo Vázquez-Prieto, Antonio Vaamonde and Esperanza Paniagua
Diseases 2024, 12(10), 256; https://doi.org/10.3390/diseases12100256 - 17 Oct 2024
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Eye infections are a global health and economic problem that affect people of both sexes at any age. Topical application of anti-infectives is widely used in the treatment of these types of infections. However, little is known about the current status and trends
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Eye infections are a global health and economic problem that affect people of both sexes at any age. Topical application of anti-infectives is widely used in the treatment of these types of infections. However, little is known about the current status and trends of the use of topical ocular anti-infectives in Spain. In the present work, we evaluated the use of this type of drug in the Spanish autonomous community of Galicia and described the variability in its consumption between Galician provinces between 2020 and 2023. In addition, the possible existence of a deviation in consumption at a seasonal level was evaluated, as well as possible changes during the study period. A descriptive, cross-sectional and retrospective study of the use of drugs belonging to the subgroups S01A (anti-infectives) and S01C (anti-inflammatory agents and anti-infectives in combination) of the Anatomic Therapeutic Chemical Classification was carried out. This work demonstrated that the most used topical ocular anti-infective in Galicia was tobramycin and that the use of these types of drugs in our region varied according to the provinces. This study also revealed that the consumption of these medications has remained stable during the period 2020–2023, with no significant seasonal differences observed.
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(This article belongs to the Section Infectious Disease)
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Open AccessArticle
The Effect of Evaluating Perfusion with Infrared Fluorescent Angiography on Flap Survival in Head and Neck Free Flap Reconstruction
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Ayten Saracoglu, Gamze Tanirgan Cabakli, Kemal Tolga Saracoglu, Gul Cakmak, Ilhan Erdem, Tumay Umuroglu, Bulent Sacak and Pawel Ratajczyk
Diseases 2024, 12(10), 255; https://doi.org/10.3390/diseases12100255 - 16 Oct 2024
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Introduction: Intraoperative fluid management is one of the most important factors affecting optimal perfusion in the microcirculatory area in patients that undergo flap surgery. While insufficient fluid administration in the intraoperative period leads to flap complications and organ dysfunction, volume load can cause
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Introduction: Intraoperative fluid management is one of the most important factors affecting optimal perfusion in the microcirculatory area in patients that undergo flap surgery. While insufficient fluid administration in the intraoperative period leads to flap complications and organ dysfunction, volume load can cause complications such as edema in the denervated flap tissue, the opening of the sutures, or fat necrosis. The Infrared Fluorescent Angiography Perfusion Evaluation Device (SPY) is one of the many noninvasive techniques that evaluate the well-being of microcirculation at the tissue level. This device monitors and scores the perfusion distribution in the flap area. This retrospective study aimed to investigate the effect of fluid resuscitation in head and neck free flap transfer surgery on flap quality and patient outcomes according to the change in SPY scores. Material and Method: This study included 39 ASA I–II patients who were aged 18–60 years and underwent simultaneous free flap reconstruction of the head and neck between 2015 and 2021. Patients’ blood pressure, body temperature, hemoglobin, pH, and lactate values were recorded at both baseline and end of the operation. Also, the SPY “Infrared Fluorescent Angiography Perfusion Evaluation Device” scores, the amount of intraoperative fluid and transfusion, bleeding and urine output, and the duration of mechanical ventilation, anesthesia and surgery, and the duration and amount of drainage, the length of stay in hospital and intensive care unit, and the presence of flap infection, detachment, necrosis and loss, and re-exploration rate were recorded for the patients. Results: The difference between the first and last measured SPY values was observed to be positively correlated with the length of stay in the hospital and intensive care unit and the duration of drainage. There was a positive correlation between the length of stay in the hospital and intensive care unit and the duration of drainage, the amount of drainage, as well as the duration of anesthesia and the duration of surgery (p < 0.001). A positive correlation was found between the amount of drainage and the amount of crystalloid solution administered (r = 0.36, p < 0.05). In patients with flap infection, the difference between SPYfirst and SPYlast, the duration of anesthesia, and the duration of surgery were significantly higher. The amount of crystalloid solution given and bleeding and the duration of anesthesia and surgery were found to be significantly higher in mechanically ventilated patients (p < 0.05). Conclusions: It has been concluded that SPY-guided fluid management can be beneficial in preventing morbidities, such as extended hospital and intensive care stay, by reducing flap infection, mechanical ventilation duration, and drainage, with early diagnosis of insufficient perfusion.
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Open AccessArticle
Pneumonia-Related Hospitalizations among the Elderly: A Retrospective Study in Northeast Italy
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Silvia Cocchio, Claudia Cozzolino, Patrizia Furlan, Andrea Cozza, Michele Tonon, Francesca Russo, Mario Saia and Vincenzo Baldo
Diseases 2024, 12(10), 254; https://doi.org/10.3390/diseases12100254 (registering DOI) - 15 Oct 2024
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Background: In both the elderly and children, pneumonia remains one of the leading causes of hospitalization. This study aimed to assess the impact of pneumonia-related hospitalizations in the population over 65 years of age in the Veneto Region. Methods: This retrospective
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Background: In both the elderly and children, pneumonia remains one of the leading causes of hospitalization. This study aimed to assess the impact of pneumonia-related hospitalizations in the population over 65 years of age in the Veneto Region. Methods: This retrospective study analyzed hospital discharge records for patients aged 65 and older who resided in the Veneto Region and had a diagnosis of pneumonia from 2007 to 2023. The hospitalizations were identified using specific ICD-9-CM codes for pneumonia as a discharge diagnosis. Hospitalization rates, mortality rates, the prevalence of complications and comorbidities, the length of stay, and associated costs were calculated by age and year. Results: From 2007 to 2023, there were 139,201 hospitalizations for pneumonia. Emergency admissions accounted for 92.1% of these cases, and only 2.0% had a specific diagnosis of pneumococcal pneumonia. The median length of stay was 10 days, and the median diagnosis-related group (DRG) tariff per hospitalization was EUR 3307. Excluding the pandemic years, the hospitalization rates remained stable at approximately 850 cases per 100,000 inhabitants before 2019. After 2022, the rates started to increase again. Overall, in the investigated period, the results showed a negative trend (average Annual Percentage Change (AAPC) of −1.931, p < 0.0001). However, when only considering the pre-pandemic years, the trend was stable, while a decline was observed starting in 2020 (AAPC of −19.697, p = 0.001). The overall discharge mortality rates ranged from 13% to 19.3% but were significantly higher in those over 85 years of age (20.6% compared with 6.5% and 12.0% in the 65–74 and 75–84 age groups, respectively). Conclusions: This study highlights the substantial burden of pneumonia in individuals over 65 years of age, showing the impacts on public health.
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Open AccessStudy Protocol
The Role of Nutrition in the Nursing Management of Pressure Ulcers in Adult Community Settings: A Systematic Review Protocol
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Giovanni Cangelosi, Sara Morales Palomares, Marco Sguanci, Federico Biondini, Francesco Sacchini, Stefano Mancin and Fabio Petrelli
Diseases 2024, 12(10), 253; https://doi.org/10.3390/diseases12100253 - 14 Oct 2024
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Background: The aging population drives a growing demand for care, particularly in Europe. It is estimated that approximately 1.5–2 million individuals have a chronic wound. Among these, pressure ulcers (PUs) are one of the most prevalent complications in vulnerable individuals. Malnutrition is a
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Background: The aging population drives a growing demand for care, particularly in Europe. It is estimated that approximately 1.5–2 million individuals have a chronic wound. Among these, pressure ulcers (PUs) are one of the most prevalent complications in vulnerable individuals. Malnutrition is a primary risk factor, yet it can be mitigated through proper nutrition and adequate community support. The community nurse plays a crucial role in managing chronic conditions and nutrition through constant and professional monitoring. Aim: This article presents a comprehensive systematic review (SR) protocol to examine the role of community nursing of nutritional intervention of frail population with wound care. Methods: A SR will be conducted according to international standards and reported following the PRISMA Guidelines for SRs. The search will be conducted in PubMed/Medline, Scopus, Embase, and CINAHL, supplemented by grey literature sources. The methodological quality and risk of bias will be assessed using the Critical Appraisal Skills Programme (CASP) framework. The protocol has been registered in the Open Science Framework (OSF). Conclusions: It is anticipated that the findings of this SR will provide new evidence on the relationships between nutritional nursing interventions and wound care management primarily in the community setting.
Full article
(This article belongs to the Special Issue Care Integration for the Management of Chronic Diseases within Primary Health Care)
Open AccessReview
Molecular Signaling Pathways and MicroRNAs in Bone Remodeling: A Narrative Review
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Monica Singh, Puneetpal Singh, Baani Singh, Kirti Sharma, Nitin Kumar, Deepinder Singh and Sarabjit Mastana
Diseases 2024, 12(10), 252; https://doi.org/10.3390/diseases12100252 - 12 Oct 2024
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Bone remodeling is an intricate process executed throughout one’s whole life via the cross-talk of several cellular events, progenitor cells and signaling pathways. It is an imperative mechanism for regaining bone loss, recovering damaged tissue and repairing fractures. To achieve this, molecular signaling
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Bone remodeling is an intricate process executed throughout one’s whole life via the cross-talk of several cellular events, progenitor cells and signaling pathways. It is an imperative mechanism for regaining bone loss, recovering damaged tissue and repairing fractures. To achieve this, molecular signaling pathways play a central role in regulating pathological and causal mechanisms in different diseases. Similarly, microRNAs (miRNAs) have shown promising results in disease management by mediating mRNA targeted gene expression and post-transcriptional gene function. However, the role and relevance of these miRNAs in signaling processes, which regulate the delicate balance between bone formation and bone resorption, are unclear. This review aims to summarize current knowledge of bone remodeling from two perspectives: firstly, we outline the modus operandi of five major molecular signaling pathways, i.e.,the receptor activator of nuclear factor kappa-B (RANK)-osteoprotegrin (OPG) and RANK ligand (RANK-OPG-RANKL), macrophage colony-stimulating factor (M-CSF), Wnt/β-catenin, Jagged/Notch and bone morphogenetic protein (BMP) pathways in regards to bone cell formation and function; and secondly, the miRNAs that participate in these pathways are introduced. Probing the miRNA-mediated regulation of these pathways may help in preparing the foundation for developing targeted strategies in bone remodeling, repair and regeneration.
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Open AccessCase Report
The Unexpected Detection of Esophageal Varices Caused by Liver Cirrhosis in a 47-Year-Old Man Treated with a Growth Hormone in Childhood
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Osamu Arisaka, Satomi Koyama, George Imataka, Junko Naganuma, Takahiro Arisaka and Sei Akatsuka
Diseases 2024, 12(10), 251; https://doi.org/10.3390/diseases12100251 - 12 Oct 2024
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Background: We report a rare case highlighting the progression of liver disease in a male patient with idiopathic childhood-onset growth hormone (GH) deficiency. Case presentation: The patient was diagnosed with hypopituitarism at six years old and was treated with thyroxine therapy and GH
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Background: We report a rare case highlighting the progression of liver disease in a male patient with idiopathic childhood-onset growth hormone (GH) deficiency. Case presentation: The patient was diagnosed with hypopituitarism at six years old and was treated with thyroxine therapy and GH for his short stature, with testosterone added at the age of 15. GH therapy was discontinued when the patient was 18 years old, but thyroid and testosterone treatments continued. The patient had been taking medication for hyperlipidemia until the age of 30 and was noted to have impaired glucose tolerance at the age of 40, but HbA1c levels remained normal. At the age of 47, esophageal varices were incidentally discovered via endoscopy, revealing liver cirrhosis. Laboratory tests showed liver dysfunction and abnormal lipid levels, and hepatitis viral markers were absent. The patient had no history of drinking alcohol or smoking, and no family history of diabetes. Results: Ultimately, this case demonstrates that metabolic dysfunction-associated steatotic liver disease (MASLD/metabolic dysfunction-associated steatohepatitis (MASH)) is under-recognized in GH deficiency cases and can progress to liver cirrhosis. Conclusions: Therefore, careful evaluation of MASLD/MASH in childhood-onset GH deficiency is necessary, and GH replacement therapy should continue into adulthood, if possible.
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Open AccessArticle
Administration of Young Coconut (Cocos nucifera L.) Juice Ameliorates Memory Impairment in a Menopausal Rat Model
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Saeko Sugiyama, Hiroshi Matsushita, Akira Minami, Hatsune Nakao, Shota Hata, Ayumi Matsumoto, Hideyuki Takeuchi and Akihiko Wakatsuki
Diseases 2024, 12(10), 250; https://doi.org/10.3390/diseases12100250 - 12 Oct 2024
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Background/Objectives: In Southeast Asia, the traditional use of young coconut (Cocos nucifera L.) juice (YCJ) by women to alleviate postmenopausal symptoms suggests potential estrogenic properties. However, few studies explore the impact of YCJ on pathologies associated with estrogen deficiency in postmenopausal animal
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Background/Objectives: In Southeast Asia, the traditional use of young coconut (Cocos nucifera L.) juice (YCJ) by women to alleviate postmenopausal symptoms suggests potential estrogenic properties. However, few studies explore the impact of YCJ on pathologies associated with estrogen deficiency in postmenopausal animal models. This study examines the impact of YCJ supplementation on memory impairment and depression-like behavior in ovariectomized (Ovx) rats. Methods: Ten-week-old female rats underwent either a sham operation (Sham) or bilateral Ovx. The rats in the Ovx + YCJ group received 5×-concentrated YCJ by gavage at a dose of 15 mL/kg body weight. Twelve weeks later, the Morris water maze and forced swim tests were used to evaluate hippocampus-dependent spatial memory and depression-like behavior, respectively. Results: The Ovx rats displayed significant memory impairment (p < 0.05) and depression-like behaviors (p < 0.05), while the memory performance in the rats in the Ovx + YCJ group resembled that of the Sham rats. However, the administration of YCJ did not result in the improvement of depression-like behavior. Conclusions: These findings suggest that YCJ consumption may help ameliorate memory impairment in postmenopausal women.
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Open AccessArticle
Acute Effect of Three Aerobic Exercise Intensities on Glomerular Filtration Rate in Healthy Older Adults
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Marina Trejo-Trejo, Luis M. Gómez-Miranda and Arnulfo Ramos-Jiménez
Diseases 2024, 12(10), 249; https://doi.org/10.3390/diseases12100249 - 11 Oct 2024
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No consensus exists on whether acute aerobic exercise alters the glomerular filtration rate in older adults. Objective: To assess the immediate effects of three aerobic exercise intensities on the estimated glomerular filtration rate (eGFR) in healthy, sedentary older adults. Methods: Eighteen healthy, sedentary
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No consensus exists on whether acute aerobic exercise alters the glomerular filtration rate in older adults. Objective: To assess the immediate effects of three aerobic exercise intensities on the estimated glomerular filtration rate (eGFR) in healthy, sedentary older adults. Methods: Eighteen healthy, sedentary older adults (ten men and eight women) voluntarily participated in this study. The participants underwent three standardized aerobic exercise tests (100%, 80%, and 60% of the maximal heart rate) on a bicycle ergometer. Blood samples were collected to determine cholesterol, triacylglycerols, glucose, serum creatinine (Cr), Cystatin C (CysC) concentrations, and eGFR. Results: eGFR and serum concentrations of Cr and CysC were not modified at any exercise intensity. There was a negative correlation between blood total cholesterol vs. eGFR (R = −0.512, R = −0.582, R = −0.531; p < 0.05) at rest, 60%, and 100% of the maximal heart rate, respectively. In addition, a negative correlation existed for age vs. eGFR at 60% of the maximal heart rate (R = −0.516; p < 0.05). Conclusions: Short-duration aerobic exercise of low, moderate, and vigorous intensity did not significantly affect eGFR and is considered safe for kidney function in healthy, sedentary older adults. However, regular monitoring of kidney function in older people engaged in moderate- and high-intensity exercise is advised.
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Open AccessCase Report
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family
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Jaime Toral López, Cesar Candia Tenopala, Alix Daniela Reyes Mosqueda, Miguel Ángel Fonseca Sánchez and Luz María González Huerta
Diseases 2024, 12(10), 248; https://doi.org/10.3390/diseases12100248 - 11 Oct 2024
Abstract
Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism, hypocalcemia, high-alkaline phosphatase, high or normal 25(OH)D3, and low 1,25(OH)2D3. Methods:
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Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism, hypocalcemia, high-alkaline phosphatase, high or normal 25(OH)D3, and low 1,25(OH)2D3. Methods: We studied two siblings in a Mexican family with an atypical form of VDDR1A. In addition to the typical features of VDDR1A, the proband showed cafe au lait spots, small teeth, and grayish sclera, with hypophosphatemia, normocalcemia, and normal 25(OH)D3; the proband’s brother showed grayish sclera. The proband underwent next generation sequencing. Sanger sequencing was performed in the proband, his brother, the parents, and 100 healthy controls validate the detected variant. Results: Both brothers presented with a recurrent variant NM_000785.3; c.1319_1325dupCCCACCC and a novel nonsense variant NM_000785.3; c.227G>A in the CYP27B1 gene. Conclusions: Calcitriol treatment had a better response in proband´s younger brother. We describe the first Mexican family with an atypical form of VDDR1A associated with a novel nonsense variant, the results contribute to the phenotypic spectrum and increase the pool of pathogenic variants in CYP27B1. Data suggest that nonsense-truncating variants play a significant role in the severity of VDDR1A.
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(This article belongs to the Topic Children’s Diseases, Family Management, and Quality of Life)
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Open AccessSystematic Review
Cardiac Implantable Electronic Device Infections in Patients with Renal Insufficiency: A Systematic Review and Meta-Analysis
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Deepak Chandramohan, Prabhat Singh, Hari Naga Garapati, Raghunandan Konda, Divya Chandramohan, Nihar Jena, Atul Bali and Prathap Kumar Simhadri
Diseases 2024, 12(10), 247; https://doi.org/10.3390/diseases12100247 - 10 Oct 2024
Abstract
(1) Background: Renal insufficiency is a risk factor for cardiac implantable electronic device (CIED) infection. (2) Methods: A comprehensive search was conducted from multiple electronic databases to identify studies. Using the random effects model, we calculated the pooled rates of CIED infection and
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(1) Background: Renal insufficiency is a risk factor for cardiac implantable electronic device (CIED) infection. (2) Methods: A comprehensive search was conducted from multiple electronic databases to identify studies. Using the random effects model, we calculated the pooled rates of CIED infection and their 95% confidence intervals. We also calculated the pooled odds ratios to determine the risk of CIED infections due to chronic kidney disease (CKD) and end-stage renal disease (ESRD). We utilized the Cochran Q and I2 statistics to detect and quantify heterogeneity. (3) Results: A total of 17 studies comprising 359,784 patients with renal insufficiency were added to the meta-analysis. Out of these, 263,819 were CKD patients and 89,617 were ESRD patients. The pooled rate of CIED infection in patients with CKD was 4.3% (95% CI: 2–8.8; I2: 95.7), and in patients with ESRD, it was 4.8% (95% CI: 2.6–8.7; I2: 99.4). The pooled risk of CIED infection in the CKD population was OR 2.5 (95% CI: 1.9–3.3; p < 0.001; I2: 21.1), and in the ESRD population, it was OR 2.4 (95% CI: 1.01–5.7; p = 0.046; I2: 88.8). ESRD was associated with higher mortality, OR 2.5 (95% CI: 1.4–4.4.8; p = 0.001; I2: 95). (4) Conclusions: The presence of renal insufficiency increases the number of CIED infections. In particular, patients with ESRD have an increased risk of mortality.
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(This article belongs to the Special Issue Infectious Disease Epidemiology 2024)
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Open AccessReview
A Comprehensive Review of Moroccan Medicinal Plants for Diabetes Management
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Hanane Boutaj
Diseases 2024, 12(10), 246; https://doi.org/10.3390/diseases12100246 - 9 Oct 2024
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Moroccan flora, renowned for its diverse medicinal plant species, has long been used in traditional medicine to manage diabetes. This review synthesizes ethnobotanical surveys conducted during the last two decades. Among these plants, 10 prominent Moroccan medicinal plants are evaluated for their phytochemical
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Moroccan flora, renowned for its diverse medicinal plant species, has long been used in traditional medicine to manage diabetes. This review synthesizes ethnobotanical surveys conducted during the last two decades. Among these plants, 10 prominent Moroccan medicinal plants are evaluated for their phytochemical composition and antidiabetic properties through both in vitro and in vivo studies. The review encompasses a comprehensive analysis of the bioactive compounds identified in these plants, including flavonoids, phenolic acids, terpenoids, and alkaloids. Phytochemical investigations revealed a broad spectrum of secondary metabolites contributing to their therapeutic efficacy. In vitro assays demonstrated the significant inhibition of key enzymes α-amylase and α-glucosidase, while in vivo studies highlighted their potential in reducing blood glucose levels and enhancing insulin secretion. Among the ten plants, notable examples include Trigonella foenum-graecum, Nigella Sativa, and Artemisia herba-alba, each showcasing distinct mechanisms of action, such as enzymatic inhibition and the modulation of glucose metabolism pathways. This review underscores the necessity for further chemical, pharmacological, and clinical research to validate the antidiabetic efficacy of these plants and their active compounds, with a view toward their potential integration into therapeutic practices.
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Autoptic Findings in Patients Treated with (VA-ECMO) after Cardiac Arrest
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Martina Focardi, Francesco Santori, Beatrice Defraia, Rossella Grifoni, Valentina Gori, Ilenia Bianchi, Manuela Bonizzoli, Chiara Lazzeri and Adriano Peris
Diseases 2024, 12(10), 245; https://doi.org/10.3390/diseases12100245 - 7 Oct 2024
Abstract
Background: This study examines the results of autopsy examinations specifically aimed at documenting complications arising from the implantation phase and treatment with veno–arterial extracorporeal membrane oxygenation (VA-ECMO) in patients with refractory cardiac arrest. ECMO and VA-ECMO in particular are life-saving interventions that, in
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Background: This study examines the results of autopsy examinations specifically aimed at documenting complications arising from the implantation phase and treatment with veno–arterial extracorporeal membrane oxygenation (VA-ECMO) in patients with refractory cardiac arrest. ECMO and VA-ECMO in particular are life-saving interventions that, in the case of cardiac arrest, can temporarily replace cardiac pump function. VA-ECMO is, however, a very invasive procedure and is associated with early mechanical, haemorrhagic, and thrombotic events, infections, and late multi-organ dysfunction. Aim: This research aims to evaluate autoptic and histologic findings in patients on VA-ECMO support, providing clinical and forensic evaluation elements with respect to the procedure and clinical settings. Materials and Methods: The study analysed 10 cases, considering variables such as the duration of cardiac arrest, understood as the time between the cardiac arrest event and reperfusion with VA-ECMO, the duration of VA-ECMO support, and any complications detected by clinicians during treatment. Results: The results highlighted the presence of numerous ischemic and haemorrhagic events affecting various organs. Among them, the intestines were particularly vulnerable, even after a short ECMO duration. Conclusions: ECMO was found to accelerate post-mortem decomposition, affecting post-mortem interval estimations, and cardiac damage from reperfusion, underlining the need to meticulously select indications for treatment with VA-ECMO and perform constant clinical evaluations during the treatment itself.
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Cost–Utility Analysis of PCSK9 Inhibitors and Quality of Life: A Two-Year Multicenter Non-Randomized Study
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José Seijas-Amigo, Maria José Mauriz-Montero, Pedro Suarez-Artime, Mónica Gayoso-Rey, Francisco Reyes-Santías, Ana Estany-Gestal, Antonia Casas-Martínez, Lara González-Freire, Ana Rodriguez-Vazquez, Natalia Pérez-Rodriguez, Laura Villaverde-Piñeiro, Concepción Castro-Rubinos, Esther Espino-Paisán, Octavio Cordova-Arevalo, Diego Rodriguez-Penas, Begoña Cardeso-Paredes, Marta Ribeiro-Ferreiro, Moisés Rodríguez-Mañero, Alberto Cordero, José R. González-Juanatey and MEMOGAL Investigatorsadd
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Diseases 2024, 12(10), 244; https://doi.org/10.3390/diseases12100244 - 5 Oct 2024
Abstract
The primary objective of this study was to conduct a cost–utility analysis of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in real-world, comparing their use with standard care for managing cardiovascular disease. A multicenter prospective study was conducted across 12 Spanish hospitals from
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The primary objective of this study was to conduct a cost–utility analysis of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in real-world, comparing their use with standard care for managing cardiovascular disease. A multicenter prospective study was conducted across 12 Spanish hospitals from May 2020 to April 2022, involving 158 patients with hypercholesterolemia or atherosclerotic cardiovascular disease. This study assessed health-related quality of life (QoL) using the EQ-5D-3L questionnaire. The cost–utility analysis evaluated the economic impact of PCSK9 inhibitors when used with standard care compared to standard care alone, calculating the incremental cost–effectiveness ratio (ICER). This study included 158 patients with an average age of 61 years, male (66.5%). For patients initiating PCSK9 inhibitors, the treatment cost was EUR 13,633.39, while standard therapy cost EUR 3638.25 over two years. QoL for PCSK9 inhibitors stood at 1.6489 over two years, compared to 1.4548 for standard therapy. The results revealed favorable cost–utility outcomes, with an ICER of EUR 51,427.72. Significant improvements were observed in the domains of mobility, self-care, daily activities, pain/discomfort, and anxiety/depression (p < 0.001). This study presents the first real-world cost–utility analysis of PCSK9 inhibitors, supporting their economic rationale and highlighting their benefits in clinical practice. Healthcare decision-makers can use these results to inform their decisions and reimbursement policies concerning PCSK9 inhibitors. Trial Registration clinicaltrials.gov Identifier: NCT04319081.
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(This article belongs to the Section Cardiology)
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Costs of Palliative Care in Oncological and Non-Oncological Patients with Different Types of Ambulatory-Based Attention: Cost-Study Protocol
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Ana Helena Perea-Bello, Marta Trapero-Bertran and Christian Dürsteler
Diseases 2024, 12(10), 243; https://doi.org/10.3390/diseases12100243 - 5 Oct 2024
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Background: Ambulatory-based palliative care is vital to managing oncological and non-oncological patients. Its economic impact on the healthcare and social system has recently begun to be considered significant. It is essential to agree on the cost types, the methodology for approaching and analyzing
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Background: Ambulatory-based palliative care is vital to managing oncological and non-oncological patients. Its economic impact on the healthcare and social system has recently begun to be considered significant. It is essential to agree on the cost types, the methodology for approaching and analyzing these costs, and how to determine the burden imposed by this attention on the healthcare and social system. Aim: This study aims to design a study on the economic burden of palliative care (PC) in oncological and non-oncological pathologies in the context of outpatient care (ambulatory-based and home support teams). Methods: A prospective cross-sectional study on the economic burden of ambulatory-based palliative care (ABPC) in three phases is conducted. Phase I: A systematic literature review (SLR) first defines the methodology and data to acquire for costing (results already published). Phase II: The next phase is the piloting of the registration questionnaires for costs/expenses (results already analyzed and presented). Phase III: A cross-sectional study is being conducted to collect data on the direct and indirect costs of ABPC assumed by the healthcare system and patients/caregivers to estimate its economic and social burden (in progress). Discussion: In this study, we create and propose a methodology and extend the approach to the funding of PC in an ambulatory-based context to determine its social cost and provide stakeholders with more information to assign resources more efficiently.
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Unraveling Pneumomediastinum in COVID-19 Patients: Insights from a High-Volume-Center Case–Control Study
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Khrystyna Kuzmych, Marcello Covino, Mattia Paratore, Annalisa Campanella, Ludovico Abenavoli, Giuseppe Calabrese, Antonio Giulio Napolitano, Carolina Sassorossi, Stefano Margaritora and Filippo Lococo
Diseases 2024, 12(10), 242; https://doi.org/10.3390/diseases12100242 - 3 Oct 2024
Abstract
Background: Pneumomediastinum (PNM) is a severe complication in COVID-19 patients, potentially exacerbating morbidity and requiring heightened clinical attention. This study aims to identify risk factors, clinical characteristics, and outcomes associated with PNM in COVID-19 patients hospitalized for respiratory failure in our institution. Methods:
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Background: Pneumomediastinum (PNM) is a severe complication in COVID-19 patients, potentially exacerbating morbidity and requiring heightened clinical attention. This study aims to identify risk factors, clinical characteristics, and outcomes associated with PNM in COVID-19 patients hospitalized for respiratory failure in our institution. Methods: Among 4513 patients admitted in our institution and testing positive for COVID-19 infection during the peak of the COVID-19 pandemic in Italy (1 March 2020 to 31 July 2020), we conducted a single-center, retrospective case–control study focusing our analysis on those with severe disease (respiratory failure). The cohort included a total of 65 patients (32 with PNM and 33 without PNM in the same period). Data were retrospectively collected from hospital records, including demographics, comorbidities, smoking history, clinical and laboratory findings, and imaging results. Statistical analyses were performed using Fisher’s exact test and Student’s t-test, with significance set at α = 0.05. Results: Patients with PNM were significantly younger (54.9 ± 18.5 vs. 65.4 ± 14.3 years, p = 0.0214) and exhibited higher inflammatory markers, particularly white blood cells count (WBC) at admission (11.4 ± 5.4 vs. 6.5 ± 4.1, p < 0.0001). Although smoking status, body mass index (BMI), and major comorbidities did not differ significantly between groups, COPD was more prevalent in the PNM group (46.9% vs. 15.1%, p = 0.0148). Radiologically, ground-glass opacities (GGOs) and consolidations were more frequent in PNM patients (93.7% vs. 51.5%, p = 0.0002; 78.1% vs. 42.2%, p = 0.0051, respectively). PNM was associated with longer hospital stays (28.5 ± 14.9 vs. 12.0 ± 7.2 days, p < 0.0001) and a higher need for invasive mechanical ventilation (53.1% vs. 30.3%, p = 0.0619). However, mortality rates did not differ significantly between groups. Conclusions: PNM in patients with severe COVID-19 infection is associated with younger age, elevated inflammatory markers, and extensive lung involvement, contributing to increased morbidity and prolonged hospitalization. Early detection and tailored management strategies, including optimized respiratory support and aggressive anti-inflammatory therapies, are crucial in mitigating the adverse outcomes associated with PNM. Further research is needed to validate these findings and improve clinical protocols for managing this complication.
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(This article belongs to the Special Issue COVID-19 and Global Chronic Disease 2024: The Post-pandemic Era)
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Hemophagocytosis of the Hilar Pulmonary Lymph Nodes Is a More Sensitive Indicator of the Severity of COVID-19 Disease than Bone Marrow Hemophagocytosis
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Amira Jusovic-Stocanin, Elke Kaemmerer, Hannah Ihle, Angelina Autsch, Sandra Kleemann, Juliane Sanft, Michael Hubig, Gita Mall and Nikolaus Gassler
Diseases 2024, 12(10), 241; https://doi.org/10.3390/diseases12100241 - 3 Oct 2024
Abstract
In systemic hyper-inflammation, as in severe COVID-19 disease, there are pronounced disorders of the hematological and lymphatic systems with prognostically relevant hemophagocytosis of the bone marrow. The current work aimed to address the importance of hemophagocytosis in the lymph nodes of patients with
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In systemic hyper-inflammation, as in severe COVID-19 disease, there are pronounced disorders of the hematological and lymphatic systems with prognostically relevant hemophagocytosis of the bone marrow. The current work aimed to address the importance of hemophagocytosis in the lymph nodes of patients with severe COVID-19 disease. From 28 patients who died of severe COVID-19 infection, samples of the vertebral bone marrow and lymph nodes from the cervical, hilar, para-aortic, mesenteric and inguinal locations were morphologically and immunohistologically (CD163, CD68, CD61, CD71, CD3, CD20, CD138) examined for the possible presence of hemophagocytosis. In the single-center study at the University Hospital Jena, a total of 191 hemophagocytes were found in the bone marrow and a total of 780 hemophagocytes in the lymph nodes in a standardized area of 21,924 mm2 per tissue sample. With 370 hemophagocytes, hilar lymph nodes were most frequently affected (370/780; 47.44%; 95%-CI: [43.94, 50.95]), followed by cervical lymph nodes (206/780; 26.41%; 95%-CI: [23.41, 29.59]), para-aortic lymph nodes (125/780; 16.03%; 95%-CI: [13.58, 18.73]) and inguinal/mesenteric lymph nodes (79/780; 10.13%; 95%-CI: [8.155, 12.4]). Based on the standard area (21,924 mm2), the difference in the number of hemophagocytes in the bone marrow and in the hilar lymph nodes was statistically significant (p < 0.05), while this did not apply to the lymph nodes from the other locations. In fatal COVID-19 disease, hemophagocytosis is particularly found in the hilar lymph nodes and is therefore a better indicator of the severity of the disease than hemophagocytosis in the bone marrow. The findings provide some evidence for the concept of compartmentalized human host responses to life-threatening infections.
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(This article belongs to the Section Infectious Disease)
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