Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure. Specific treatment is indicated upon observed or predicted rapid progression. For the latter, risk stratification tools have been developed independently based on either total kidney volume or genotyping as well as clinical variables.

Imaging human pancreatic endocrinogenesis during early prenatal life.

Murine pancreatic endocrinogenesis has been extensively studied, but human data remain scarce due to limited sample availability. Here, we first built a large collection of human embryonic and fetal pancreases covering the first trimester of pregnancy to explore human endocrinogenesis. Using an experimental pipeline combining in toto staining, tissue clearing, and light-sheet fluorescence microscopy, we show that insulin+, glucagon+, and somatostatin+ cells appear simultaneously at Carnegie Stage (CS) 16.

The Anatomy and Embryology of Tetralogy of Fallot With Pulmonary Atresia.

In this review, we approach the main morphologic and developmental aspects of the congenital cardiovascular malformation known as tetralogy of Fallot with pulmonary atresia. It is recognized that pulmonary atresia associated with a deficient ventricular septation can occur in several situations. However, the tetralogy presentation in particular, with frequent but not invariable concomitance of systemic-to-pulmonary collateral arteries supplying the lungs entirely or in part, poses surgical challenges.

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α-galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life-threatening complications. The clinical presentation of the disease can vary from the "classic" phenotype with pediatric onset and multi-organ involvement to the "later-onset" phenotype, which presents with predominantly cardiac symptoms.

A 3D atlas of the human developing pancreas to explore progenitor proliferation and differentiation.

Aims/hypothesis: Rodent pancreas development has been described in great detail. On the other hand, there are still gaps in our understanding of the developmental trajectories of pancreatic cells during human ontogenesis. Here, our aim was to map the spatial and chronological dynamics of human pancreatic cell differentiation and proliferation by using 3D imaging of cleared human embryonic and fetal pancreases.

Investigational agents for autosomal dominant polycystic kidney disease: preclinical and early phase study insights.

Introduction: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney condition caused by a single-gene mutation. It leads patients to kidney failure in more than 50% of cases by the age of 60, and, given the dominant inheritance, this disease is present in the family history in more than 90% of cases.

Areas Covered: This review aims to analyze the set of preclinical and early-phase studies to provide a general view of the current progress on ADPKD therapeutic options.

Fabry disease: a rare disorder calling for personalized medicine.

Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the catabolism of globotriaosylceramide (Gb3). Since lysosomes are present throughout the body and play a crucial role in catabolism and recycling of cytosolic compounds, FD can affect multiple organs and result in various symptoms, including renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Due to the nonspecific symptoms and the rarity of FD, it is often diagnosed late in life.

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.

Germline mutations of YY1 cause Gabriele-de Vries syndrome (GADEVS), a neurodevelopmental disorder featuring intellectual disability and a wide range of systemic manifestations. To dissect the cellular and molecular mechanisms underlying GADEVS, we combined large-scale imaging, single-cell multiomics and gene regulatory network reconstruction in 2D and 3D patient-derived physiopathologically relevant cell lineages. YY1 haploinsufficiency causes a pervasive alteration of cell type specific transcriptional networks, disrupting corticogenesis at the level of neural progenitors and terminally differentiated neurons, including cytoarchitectural defects reminiscent of GADEVS clinical features.

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with and pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as , have been identified and included in the diagnostic routine test for renal cystic diseases.

Coexistence of Hashimoto's Thyroiditis in Differentiated Thyroid Cancer: Post-Operative Monitoring of Anti-Thyroglobulin Antibodies and Assessment of Treatment Response.

Introduction: Differentiated thyroid carcinoma (DTC) is frequently found in conjunction with autoimmune thyroid disorders, particularly Hashimoto's thyroiditis (HT). This study investigates the impact of coexisting HT on the persistence of an indeterminate response to therapy due to positive anti-thyroglobulin antibodies (AbTg), measured via competitive immunoassay, in a consecutive patient series from Calabria, Southern Italy.

Methods: This retrospective longitudinal study analyzed 259 consecutive DTC patients managed at the Endocrinology Unit of Renato Dulbecco Hospital (Catanzaro, Italy) up to 2023.

A case of pleural lipoma evaluated with multi-imaging methods.

We reported a rare case of patient affected by pleural lipoma, studied with ultrasound, X-rays, CT, and MRI examination, with both conventional and functional MR imaging modality (DWI), in order to highlight the diagnostic contribution of the DWI sequence. It is necessary to make an adequate evaluation with dedicated imaging to make a correct differential diagnosis from the corresponding malignant forms which would require more radical treatment. In this case we evaluated the effectiveness of the DWI sequence in reaching the correct diagnosis.

Primary membranous nephropathy in the Italian region of Emilia Romagna: results of a multicenter study with extended follow-up.

Background: Since primary membranous nephropathy is a heterogeneous disease with variable outcomes and multiple possible therapeutic approaches, all 13 Nephrology Units of the Italian region Emilia Romagna decided to analyze their experience in the management of this challenging glomerular disease.

Methods: We retrospectively studied 205 consecutive adult patients affected by biopsy-proven primary membranous nephropathy, recruited from January 2010 through December 2017. The primary outcome was patient and renal survival.

Impact of COVID-19 and vaccination campaign on 1,755 systemic sclerosis patients during first three years of pandemic. Possible risks for individuals with impaired immunoreactivity to vaccine, ongoing immunomodulating treatments, and disease-related lung involvement during the next pandemic phase.

Introduction: The impact of COVID-19 pandemic represents a serious challenge for 'frail' patients' populations with inflammatory autoimmune systemic diseases such as systemic sclerosis (SSc). We investigated the prevalence and severity of COVID-19, as well the effects of COVID-19 vaccination campaign in a large series of SSc patients followed for the entire period (first 38 months) of pandemic.

Patients And Method: This prospective survey study included 1755 unselected SSc patients (186 M, 1,569F; mean age 58.

Understanding yellow fever-associated myocardial injury: an autopsy study.

Background: Yellow fever (YF) is a viral hemorrhagic fever, endemic in parts of South America and Africa. There is scarce evidence about the pathogenesis of the myocardial injury. The objective of this study is to evaluate the cardiac pathology in fatal cases of YF.

Feasibility of Transatrial Access for Epicardial Ablation: Evaluation of 2 Different Techniques in Swine.

Background: The subxiphoid pericardial access is technically difficult and has a considerable rate of complications, thus transatrial access may be an alternative.

Objectives: This study sought to assess the feasibility and safety of this strategy regarding periprocedural period and after 1-week follow-up.

Methods: The investigators performed epicardial mapping through transatrial puncture in 20 swine.

Primary large B-cell lymphoma involving the cerebellopontine angle mimic acoustic schwannoma: Role of MR Spectroscopy in differential diagnosis. A case report.

Primary central nervous system (CNS) lymphoma is a very rare aggressive non-Hodgkin disease that originates in CNS (brain, leptomeninges, spinal cord, or eyes). It seems to have increased over the last two decades in both immunocompromised and immunocompetent patients. Primary large B-cell lymphoma involving the cerebellopontine angle (CPA) is extremely rare: only 15 cases of large B-cell lymphoma of the CPA have been reported worldwide; based on our knowledge, no cases studied with MR Spectroscopy.

From Euglycemia to Recent Onset of Type 2 Diabetes Mellitus: A Proof-of-Concept Study on Circulating microRNA Profiling Reveals Distinct, and Early microRNA Signatures.

Background and aim-Alterations in circulating microRNA (miRNA) expression patterns are thought to be involved in the early stages of prediabetes, as well as in the progression to overt type 2 diabetes mellitus (T2D) and its vascular complications. However, most research findings are conflicting, in part due to differences in miRNA extraction and normalization methods, and in part due to differences in the study populations and their selection. This cross-sectional study seeks to find new potentially useful biomarkers to predict and/or diagnose T2D by investigating the differential expression patterns of circulating miRNAs in the serum of patients with impaired fasting glucose (IFG) and new-onset T2D, with respect to euglycemic controls, using a high-throughput 384-well array and real-time PCR.

Diet and Physical Activity in Adult Dominant Polycystic Kidney Disease: A Review of the Literature.

Autosomal polycystic kidney disease is the most common inherited kidney disease determining 5% of all end-stage kidney disease. The only therapy approved for this condition is Tolvaptan, which, with its aquaretic effect, has a strong effect on patients' daily life. Recently, the literature has been enriched with new works that analyze possible non-pharmacological therapeutic strategies to slow cysts' enlargement and chronic kidney disease progression.