Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease.

Fabry disease (FD) leads to significant morbidity and mortality, which may indicate accelerated ageing. However, it is still unclear whether there is a relationship between telomere length (TL), a marker of biological ageing, and disease outcome. We aimed to examine the relationship between leukocyte TL (LTL) dynamics and the presence of advanced disease stages and/or late complications of FD, including hypertrophic cardiomyopathy, nephropathy and stroke, both cross-sectionally and longitudinally.

Beyond diagnosis: exploring coeliac disease incidence alongside clinical and laboratory characteristics of newly diagnosed children in Slovenia.

Objective: Coeliac disease is characterized by a wide array of clinical presentations. The focus of our study was to comprehensively assess the clinical manifestations of coeliac disease in newly diagnosed children in Slovenia. Our objectives include estimating the incidence of the disease in children in 2022.

Insights into coeliac disease diagnosis: a 2021-2023 overview of diagnostic approach and delays in children in Slovenia.

Introduction: Over the past decade, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) proposed the option of diagnosing coeliac disease (CD) in children without duodenal biopsy. The aim of our study was to assess the diagnostic approach in newly diagnosed children with CD in Slovenia.

Methods: In this prospective study, Slovenian paediatric gastroenterologists were invited to provide medical records of children under 19 years diagnosed with CD from March 2021 to October 2023.

A case of multiple autoimmune syndrome comprising autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus.

Multiple autoimmune syndrome is a manifestation of polyautoimmunity with the co-occurrence of three or more autoimmune diseases in a single patient. We report a unique case of a 55-year-old female patient that presented with four autoimmune diseases: autoimmune thyroid disease, vitiligo, morphea, and lichen sclerosus. She was evaluated for progression of morphea and lichen sclerosus, and we confirmed histopathological overlapping of these two diseases in the same lesion.

A Multidisciplinary Skull Base Board for Tumour and Non-Tumour Diseases: Initial Experiences.

The skull base is the area where various cancerous and non-cancerous diseases occur and represents the intersection of several medical fields. The key is an integrated treatment by specialists of multiple disciplines. We prospectively analysed patients with a skull base disease between August 2022 and 2023 and presented to the Multidisciplinary Skull Base Board (MDT-SB), which takes place once a month hybridly (in-person and remotely).

The role of radiography in diagnosing, monitoring and prognosing juvenile idiopathic arthritis.

The current role of conventional radiography in the diagnosis, monitoring and prognosis of juvenile idiopathic arthritis (JIA) is reviewed, as its role has changed with the increasing use of ultrasound and magnetic resonance imaging, as well as with the introduction of biological drugs. Conventional radiography does not play an important role in the diagnosis of JIA, as this is based on history, clinical examination and laboratory findings. The main role of conventional radiography is in the detection and monitoring of growth disorders and chronic structural and morphological changes of the affected joints and bones, in addition to helping with the differential diagnosis of conditions that mimic JIA.

Urinary-derived extracellular vesicles reveal a distinct microRNA signature associated with the development and progression of Fabry nephropathy.

Introduction: Early initiation is essential for successful treatment of Fabry disease, but sensitive and noninvasive biomarkers of Fabry nephropathy are lacking. Urinary extracellular vesicles (uEVs) represent a promising source of biomarkers of kidney involvement. Among them, microRNAs (miRNAs) are important post-transcriptional regulators of gene expression that contribute to the development and progression of various kidney diseases.

Comparison of Four Intrapartum Cardiotocography Classifications for Predicting Neonatal Acidemia at Birth.

Objective: To compare diagnostic values of four intrapartum cardiotocography (CTG) classifications in predicting neonatal acidemia at birth.

Methods: Retrospective case-control study. Forty-three CTG traces with an umbilical artery pH < 7.

Partial triceps tendon avulsion delayed reconstruction using Achilles tendon allograft, a case report.

A case report of a 32-year-old bodybuilder with an incomplete triceps tendon avulsion on his right dominant upper extremity is presented. At initial presentation, an avulsion injury was suspected. Ultrasound diagnostics pointed toward partial distal triceps tendon rupture, and since the patient had retained active elbow extension, a trial of conservative treatment was initiated.

An Intermodal Correlation Study among Imaging, Histology, Procedural and Clinical Parameters in Cerebral Thrombi Retrieved from Anterior Circulation Ischemic Stroke Patients.

The precise characterization of cerebral thrombi prior to an interventional procedure can ease the procedure and increase its success. This study investigates how well cerebral thrombi can be characterized by computed tomography (CT), magnetic resonance (MR) and histology, and how parameters obtained by these methods correlate with each other as well as with the interventional procedure and clinical parameters. Cerebral thrombi of 25 patients diagnosed by CT with acute ischemic stroke were acquired by mechanical thrombectomy and, subsequently, scanned by a high spatial-resolution 3D MRI including -weighted imaging, apparent diffusion coefficient (ADC), mapping and then finally analyzed by histology.

Protective Effect of against Vaginal Colonization with Group B Streptococci in the Third Trimester of Pregnancy.

Background: A normal vaginal microbiota may protect the vaginal mucosa from colonization by potentially pathogenic bacteria, including group B streptococci (GBS). The aim of this study was to investigate the association between colonization with GBS and the presence of specific vaginal microbiota isolated from vaginal swabs in the third trimester of pregnancy. Methods: A semiquantitative culture of 1860 vaginal swabs from consecutive pregnant women in their third trimester was analyzed.

Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.

Fabry disease is a rare lysosomal storage disorder caused by mutations in the GLA gene, which, without treatment, can cause significant renal dysfunction. We evaluated the effects of enzyme replacement therapy with agalsidase alfa on renal decline in patients with Fabry disease using data from the Fabry Outcome Survey (FOS) registry. Male patients with Fabry disease aged >16 years at agalsidase alfa start were stratified by low (≤0.

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs.

DEEP SEPTIC PELVIC THROMBOPHLEBITIS - A LIFE-THREATENING CONDITION IN POSTPARTUM PERIOD.

Deep septic pelvic thrombophlebitis is a rare but potentially devastating complication in the puerperium. Early diagnosis and aggressive treatment of this postpartum complication is essential. We report a case of a 23-year-old multipara, who presented with persistent high fever and abdominal pain two days after delivery.

Small cell variant of chromophobe renal cell carcinoma: Clinicopathologic and molecular-genetic analysis of 10 cases.

The morphologic diversity of chromophobe renal cell carcinoma (ChRCC) is well-known. Aside from typical morphology, pigmented adenomatoid, multicystic and papillary patterns have been described. Ten cases of CHRCC composed of small cell population in various percentages were analysed, using morphologic parameters, immunohistochemistry and next-generation sequencing (NGS) testing.

Podocyturia in Fabry disease: a 10-year follow-up.

Background: Fabry disease (FD) is a rare X-linked disorder of sphingolipid metabolism that results in chronic proteinuric nephropathy. Podocytes are one of the most affected renal cells and play an important role in the development and progression of kidney disease. Detached podocytes found in urine (podocyturia) are considered as a non-invasive early marker of kidney injury; however, the dynamics of podocyte loss remains unknown.

Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?

Background: Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based on signs that may present too late to avoid irreversible organ damage. Findings from the 'PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease' (PREDICT-FD) initiative included expert consensus on 27 early indicators of disease progression in Fabry disease and on drivers of and barriers to treatment initiation in Fabry disease.

Study of correlations between CT properties of retrieved cerebral thrombi with treatment outcome of stroke patients.

Background: All the patients with suspected stroke are directed to whole-brain CT scan. The purpose of this scan is to look for early features of ischemia and to rule out alternative diagnoses than stroke. In case of ischemic stroke, CT diagnostics (including CT angiography) is used mainly to locate the occlusion and its size, while the Hounsfield Units (HU) values of the thrombus causing the stroke are usually overlooked on CT scan or considered not important.

Adolescents With Autism Spectrum Disorder and Anorexia Nervosa Comorbidity: Common Features and Treatment Possibilities With Cognitive Remediation Therapy and Oxytocin.

Autistic traits or autism spectrum disorder (ASD) can be found in 4% to 52% of anorexic patients, which makes the treatment of these patients very challenging. In this review, possible ways to treat ASD and anorexia nervosa (AN) comorbidity in children and adolescents are summarized. Over recent years, the focus has shifted from searching for the evidence of connections between these two disorders, which have started with Gillberg's study in 1983, to searching for more effective and holistic treatment of this comorbidity.

Urinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy.

Current biomarkers of Fabry nephropathy lack sensitivity in detecting early kidney damage and do not predict progression of nephropathy. Urinary extracellular vesicles (uEVs) and their molecular cargo could reflect early changes in renal impairment as they are secreted by the cells lining the urinary tract. We aimed to conduct a proof-of-concept study to investigate whether analysis of uEV characteristics and expression of uEV-derived microRNAs (miRNAs) could be applicable in studies to predict the development and progression of nephropathy in Fabry disease.

Supporting Real World Decision Making in Coronary Diseases Using Machine Learning.

Cardiovascular diseases are one of the leading global causes of death. Following the positive experiences with machine learning in medicine we performed a study in which we assessed how machine learning can support decision making regarding coronary artery diseases. While a plethora of studies reported high accuracy rates of machine learning algorithms (MLA) in medical applications, the majority of the studies used the cleansed medical data bases without the presence of the "real world noise.

Bilateral neck fracture in bimodular femoral stem after primary total hip arthroplasty: a case report.

Background: Bi-modular stems were introduced in primary total hip arthroplasty (THA) to enable better control of the femoral offset, leg length, and hip stability. Despite numerous reports on modular femoral neck fractures, some designs are still marketed worldwide. While the risk factors for the sudden failure are multifactorial and mostly known, the timing of this new THA complication is not predictable by any means.