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The clinical relevance of WDFY4 in autoimmune diseases in diverse ancestral populations.

WD repeat- and FYVE domain-containing protein 4 (WDFY4), coded by a gene on 10q11.23, is a member of the BEACH (Beige and Chediak-Higashi) domain-containing family. Genome-wide association studies identified WDFY4 variants as a risk factor for SLE in Asian and European populations. WDFY4 variants are also associated with RA and primary biliary cholangitis, in different ancestry populations. The WDFY4 protein plays an essential role in the cross-presentation of classic dendritic cells, reactive oxygen species-induced apoptosis of CD8+ T cells, and non-canonical autophagic activity in B cells. A

Challenges and Clinical Relevance of Modern Breast Pathology Reporting: Your Questions Answered.

BACKGROUND: Breast pathology reporting, especially for breast cancer, has evolved through the years, from terse succinct diagnostic conclusions with scant histological details to the current comprehensive reporting guidelines issued by major pathology colleges and bodies, including the International Collaboration on Cancer Reporting. Pathology elements included in reporting guidelines are evidence based and contribute significantly to individualised and personalised patient management. SUMMARY: This article is based on the lively interactive question and answer session that followed the breas

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

INTRODUCTION: Myeloproliferative neoplasm (MPN) is a heterogenous group of hematological malignancies including polycythemia vera (PV), esse … dition, several genetic variants were also identified as germline in this study but gave no obvious clinical relevance. To avoid conclusions from non-informative genetic variants, a simultaneous analysis of normal cell DNA from patients at diagnosis should be considered.

Clinical relevance of viral codetection in infants with respiratory syncytial virus bronchiolitis.

INTRODUCTION: Respiratory syncytial virus (RSV) is the main cause of severe bronchiolitis, especially in infants. The aim of this study is to assess whether codetection of RSV and other respiratory viruses could affect the severity of this infection comparing with unique RSV detection. METHODS: A prospective study from 2016 to 2019 including children under 2 years who were admitted in the Emergency Service of the Hospital Universitari Arnau de Vilanova de Lleida (Spain) was performed. Nasopharyngeal samples from all patients were sent to the laboratory for RSV real-time PCR detection (GeneXpe

Lower limb arterial calcification and its clinical relevance with peripheral arterial disease.

Lower limb arterial calcification (LLAC) is associated with an increased risk of mortality and it predicts poor outcomes after endovascular interventions in patients with peripheral artery disease (PAD). Detailed histological analysis of human lower artery specimens pinpointed the presence of LLAC in two distinct layers: the intima and the media. Intimal calcification has been assumed to be an atherosclerotic pathology and it is associated with smoking and obesity. It becomes instrumental in lumen stenosis, thereby playing a crucial role in disease progression. On the contrary, medial calcific

Clinical and functional relevance of right ventricular contraction patterns in pulmonary hypertension.

BACKGROUND: The right ventricle has a complex contraction pattern of uncertain clinical relevance. We aimed to assess the relationship between right ventricular (RV) contraction pattern and RV-pulmonary arterial (PA) coupling defined by the gold-standard pressure-volume loop-derived ratio of end-systolic/arterial elastance (Ees/Ea). METHODS: Prospectively enrolled patients with suspected or confirmed pulmonary hypertension underwent three-dimensional echocardiography, standard right heart catheterization, and RV conductance catheterization. RV-PA uncoupling was categorized as severe (Ees/Ea <…

The Clinical Relevance of Selected Cytokines in Newly Diagnosed Multiple Myeloma Patients.

Multiple myeloma (MM) is the second most common hematological neoplasm. Cytokines, chemokines, and their receptors, induced by the microenvironment of MM, participate in tumor growth, the attraction of leukocytes, cell homing, and bone destruction. This study aimed to assess the correlation between the pretreatment serum concentrations of interleukin-6 (IL-6), interleukin-8 (IL-8), angiogenic chemokine monocyte chemoattractant protein-1 (MCP-1), and vascular endothelial growth factor (VEGF) and the clinical outcomes and survival of patients newly diagnosed with MM. The study group consisted of

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… In this study, we aimed to address this gap by investigating the clinical relevance of four specific cytokines: interleukin-6 (IL-6), interleukin-8 (IL-8), vascular endothelial growth factor (VEGF), and monocyte chemoattractant protein-1 (MCP-1). …

Clinical and Prognostic Relevance of Cardiac Wasting in Patients With Advanced Cancer.

BACKGROUND: Body wasting in patients with cancer can affect the heart. OBJECTIVES: The frequency, extent, and clinical and prognostic importance of cardiac wasting in cancer patients is unknown. METHODS: This study prospectively enrolled 300 patients with mostly advanced, active cancer but without significant cardiovascular disease or infection. These patients were compared with 60 healthy control subjects and 60 patients with chronic heart failure (ejection fraction <40%) of similar age and sex distribution. RESULTS: Cancer patients presented with lower left ventricular (LV) mass than heal

Sleep disorders in Lewy body dementia: Mechanisms, clinical relevance, and unanswered questions.

In Lewy body dementia (LBD), disturbances of sleep and/or arousal including insomnia, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, obstructive sleep apnea, and restless leg syndrome are common. These disorders can each exert a significant negative impact on both patient and caregiver quality of life; however, their etiology is poorly understood. Little guidance is available for assessing and managing sleep disorders in LBD, and they remain under-diagnosed and under-treated. This review aims to (1) describe the specific sleep disorders which occur in LBD, cons

Feline Morbillivirus: Clinical Relevance of a Widespread Endemic Viral Infection of Cats.

Feline morbillivirus (FeMV) was first isolated in 2012 from stray cats in Hong Kong. It has been found in association with tubulointerstitial nephritis (TIN), the most common cause of feline chronic kidney disease (CKD). However, viral host spectrum and virus tropism go beyond the domestic cat and kidney tissues. The viral genetic diversity of FeMV is extensive, but it is not known if this is clinically relevant. Urine and kidney tissues have been widely tested in attempts to confirm associations between FeMV infection and renal disease, but samples from both healthy and sick cats can test pos

Drug target therapy and emerging clinical relevance of exosomes in meningeal tumors.

Meningioma is the most common central nervous system (CNS) tumor. In recent decades, several efforts have been made to eradicate this disease. Surgery and radiotherapy remain the standard treatment options for these tumors. Drug therapy comes to play its role when both surgery and radiotherapy fail to treat the tumor. This mostly happens when the tumors are close to vital brain structures and are nonbenign. Although a wide variety of chemotherapeutic drugs and molecular targeted drugs such as tyrosine kinase inhibitors, alkylating agents, endocrine drugs, interferon, and targeted molecular pat

Adenoid hypertrophy in children: a narrative review of pathogenesis and clinical relevance.

Adenoids (nasopharyngeal tonsils), being part of Waldeyer's ring, are masses of lymphoid tissues located at the junction of the roof and the posterior wall of the nasopharynx. Adenoids play an important role in the development of the immune system and serve as a defence against infections, being the first organs that come into contact with respiratory and digestive antigens. The causes of adenoid hypertrophy are not fully known. They are most likely associated with aberrant immune reactions, infections, environmental exposures and hormonal or genetic factors. The aim of this review is to summa

Secondary immunoreaction in patients with neurosyphilis and its relevance to clinical outcomes.

BACKGROUND AND PURPOSE: Several reported cases of autoimmune conditions such as anti-NMDAR encephalitis and neuromyelitis optica (AQP4) have been considered to be potentially secondary to Treponema pallidum infection. Since the role of immune impairment in neurosyphilis is unclear, in this retrospective study, we examined the correlation of the immune impairment in patients with neurosyphilis with their clinical characteristics and outcomes. METHODS: Clinical information was collected from patients with neurosyphilis in our center from January 2019 to December 2021. Cerebrospinal fluid (CSF)

Clinical relevance of amyloid in prostate samples: a report on 40 patients.

OBJECTIVE: To describe the clinical findings in patients with incidental prostatic amyloidosis. PATIENTS AND METHODS: Retrospective search in the database of the Department of Pathology, Hospital de Bellvitge, for prostate specimens with amyloid. Congo red and immunohistochemical staining of the sections. Review of the patients' clinical charts for symptoms attributable to systemic amyloidosis. RESULTS: Amyloid deposition in the prostate was identified and reported in 40 patients between 2001 and 2022. Median age was 76.5 years (range = 62-90 years). Prostate cancer was diagnosed in 25 patie

Histology-Verified Intracranial Artery Calcification and Its Clinical Relevance With Cerebrovascular Disease.

Intracranial artery calcification (IAC) was regarded as a proxy for intracranial atherosclerosis (ICAS). IAC could be easily detected on routine computer tomography (CT), which was neglected by clinicians in the previous years. The evolution of advanced imaging technologies, especially vessel wall scanning using high resolution-magnetic resonance imaging (HR-MRI), has aroused the interest of researchers to further explore the characteristics and clinical impacts of IAC. Recent histological evidence acquired from the human cerebral artery specimens demonstrated that IAC could mainly involve two

The clinical relevance of human papillomavirus negative status in unsatisfactory cervical cytology.

PURPOSE: The aim of this study was to evaluate the clinical relevance of high-risk human papillomavirus (HR-HPV) negativity at the time of unsatisfactory cervical cytology. METHODS: In this retrospective observational study, records were reviewed for patients who had unsatisfactory cervical cytology with HR-HPV testing performed from January 2015 through September 2019 at a large teaching hospital. Pathology results of follow-up cervical cytology and biopsies were assessed. RESULTS: Of 1282 patients with unsatisfactory cervical cytology and negative HR-HPV testing, repeat cytology was negati…

Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

While survival has improved for Burkitt lymphoma patients, potential differences in outcome between pediatric and adult patients remain unclear. In both age groups, survival remains poor at relapse. Therefore, we conducted a comparative study in a large pediatric cohort, including 191 cases and 97 samples from adults. While TP53 and CCND3 mutation frequencies are not age related, samples from pediatric patients showed a higher frequency of mutations in ID3, DDX3X, ARID1A and SMARCA4, while several genes such as BCL2 and YY1AP1 are almost exclusively mutated in adult patients. An unbiased analy

Clinical Relevance of Rifampicin-Moxifloxacin Interaction in Isoniazid-Resistant/Intolerant Tuberculosis Patients.

Moxifloxacin is an attractive drug for the treatment of isoniazid-resistant rifampicin-susceptible tuberculosis (TB) or drug-susceptible TB complicated by isoniazid intolerance. However, co-administration with rifampicin decreases moxifloxacin exposure. It remains unclear whether this drug-drug interaction has clinical implications. This retrospective study in a Dutch TB center investigated how rifampicin affected moxifloxacin exposure in patients with isoniazid-resistant or -intolerant TB. Moxifloxacin exposures were measured between 2015 and 2020 in 31 patients with isoniazid-resistant or -i

Rapid eye movement predominant obstructive sleep apnoea: prognostic relevance and clinical approach.

PURPOSE OF REVIEW: Rapid eye movement (REM) obstructive sleep apnoea (OSA) is a stage-specific OSA, in which obstructive events occur primarily during REM sleep. This review discusses REM-OSA definitions, its cardiometabolic correlates, associated comorbidities and treatment, and addresses diagnostic ambiguities and therapeutic pitfalls. RECENT FINDINGS: Current evidence indicates that REM-OSA is prevalent among younger age groups and women and is independently associated with cardiometabolic complications, particularly hypertension, metabolic complications such as insulin resistance and meta

CLINICAL RELEVANCE OF EXTENDED PLATELET INDICES IN THE DIAGNOSIS OF IMMUNE THROMBOCYTOPENIA.

Immune thrombocytopenia (ITP) is an autoimmune disorder. Besides platelet count, immature platelet fraction (IPF) can be used as a tool to predict megakaryocytic activity in ITP patients. The aim of the study was to evaluate the utility of extended platelet indices in ITP diagnosis and their association with disease persistence and severity. This case-control study (1:1), conducted from January 2015 to December 2017, included 111 ITP patients and 111 healthy controls. ITP patients were grouped as newly diagnosed ITP, persistent ITP, chronic ITP, and refractory ITP patients. Peripheral blood wa