Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.

Background: Inherited retinal dystrophies (IRD) are one of the main causes of incurable blindness worldwide. IRD are caused by mutations in genes that encode essential proteins for the retina, leading to photoreceptor degeneration and loss of visual function. IRD generates an enormous global financial burden due to the lack of understanding of a significant part of its pathophysiology, molecular diagnosis, and the near absence of non-palliative treatment options.

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Background: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.

Methods: A total of 864 patients from the registry database were included.

Comparative proteomic analysis of Trypanosoma cruzi TcI lineage epimastigotes unveils metabolic and phenotypic differences between fast- and slow-dividing strains.

Trypanosoma cruzi, the causative agent of Chagas disease, is a genetically and phenotypically diverse species, divided into 5 main phylogenetic lineages (TcI to TcVI). TcI is the most widespread lineage in the Americas. Proteomics is a suitable tool to study the global protein expression dynamics in pathogens.

Pathophysiology of Age-Related Macular Degeneration: Implications for Treatment.

Age-related macular degeneration (AMD) is a complex, multifactorial, progressive retinal disease that affects millions of people worldwide and has become the leading cause of visual impairment in developed countries. The disease etiopathogenesis is not understood fully, although many triggers and processes that lead to dysfunction and degeneration of the retinal pigment epithelium (RPE) have already been identified. Thus, the lack of cellular control of oxidative stress, altered proteostasis, dysfunction of lipid homeostasis, and mitochondrial dysfunction form an internal feedback loop that causes the RPE to fail and allows accumulation of abnormal misfolded proteins and abnormal lipids that will form drusen.

lncRNA deregulation in childhood acute lymphoblastic leukemia: A systematic review.

Childhood acute lymphoblastic leukemia (ALL), the most common pediatric cancer, is a heterogeneous disease comprised of multiple molecular subtypes with distinct somatic genetic alterations, which results in different outcomes for the patients. Accurate patient risk stratification through genetic markers could increase survival rates, but the identification of reliable biomarkers is needed, as 20‑30% of B‑ALL patients cannot be classified in the clinic with routine techniques and some patients classified as low‑risk and good‑responders to treatment will eventually relapse. Long non‑coding RNAs (lncRNAs) can represent novel candidates with diagnostic, classification, prognosis, and treatment response potential.

-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Over 175 pathogenic mutations in the Peripherin-2 ( gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct gene mutations. We identified a new mutation, c.

Mechanical and structural adaptations to migration in the flight feathers of a Palaearctic passerine.

Current avian migration patterns in temperate regions have been developed during the glacial retreat and subsequent colonization of the ice-free areas during the Holocene. This process resulted in a geographic gradient of greater seasonality as latitude increased that favoured migration-related morphological and physiological (co)adaptations. Most evidence of avian morphological adaptations to migration comes from the analysis of variation in the length and shape of the wings, but the existence of intra-feather structural adjustments has been greatly overlooked despite their potential to be under natural selection.

Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease.

Presenilin 1 (PSEN1) is a γ-secretase component, which is in charge of the amyloid precursor protein (APP) cleavage. APP is believed to play a central role in the pathogenesis of Alzheimer's disease (AD). PSEN1 mutations are the most important causes of familial AD, being related to the earlier onset and rapid progression of the disease.

CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA.

Background: Some variables have been proposed as predictors of efficacy of OnabotulinumtoxinA in chronic migraine patients, but data available are inconclusive. We aimed to analyse the influence of single nucleotide polymorphisms in the response to OnabotulinumtoxinA.

Methods: We included 156 female patients treated with OnabotulinumtoxinA accordingly to PREEMPT paradigm in three headache units.

Polymorphisms in Receptors Involved in Opsonic and Nonopsonic Phagocytosis, and Correlation with Risk of Infection in Oncohematology Patients.

High-risk hematological malignancies are a privileged setting for infection by opportunistic microbes, with invasive mycosis being one of the most serious complications. Recently, genetic background has emerged as an unanticipated risk factor. For this reason, polymorphisms for genes encoding archetypal receptors involved in the opsonic and nonopsonic clearance of microbes, pentraxin-3 (PTX3) and Dectin-1, respectively, were studied and correlated with the risk of infection.

Outcomes of Limited Open Achilles Repair Using Modified Ring Forceps.

Background: The optimal treatment of acute Achilles tendon ruptures remains controversial. When surgical repair is undertaken, the reported rate of infections and wound-healing complications ranges from 2% to 5%. Meta-analyses have demonstrated that minimally invasive approaches have equivalent rerupture rates, a significantly lower risk of superficial infections, and higher patient satisfaction rates compared with traditional open Achilles repair techniques.

Prevalence of Vitamin D Deficiency in Patients With Talar Osteochondral Lesions.

Background: Vitamin D deficiency affects over 1 billion people worldwide and is common in foot and ankle patients. The prevalence in those with osteochondral lesions of the talus (OLTs) is unknown. This study identified the prevalence and risk factors for hypovitaminosis D in patients with an OLT.

Familial Hemiplegic Migraine with Severe Attacks: A New Report with Mutation.

. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.

The wing venation patterns to identify single tsetse flies.

This is the first study to explore the potential of various geometric morphometrics methods to help the morphological diagnostic of tsetse species, vectors of human and animal trypanosomiases in sub-Saharan Africa. We compared landmarks, semilandmarks and outlines techniques on male and female samples of species, and suggested adapted strategies according to the countries and their own Glossina fauna. We could compare up to 7 taxa belonging to the three main subgenera of the Glossina genus: Nemorhina (5 species), Glossina (1 species) and Austenina (1 species).

Laboratory predictors for risk of revision surgery in pediatric septic arthritis.

Background: Reported complications of pediatric septic arthritis range from minor growth abnormalities to potentially life-threatening conditions and death; some children require multiple surgeries for eradication of infection. The purpose of this study is: (1) to determine the failure rate of a single surgical incision and drainage (I&D) in pediatric septic arthritis, (2) to identify risk factors for failure which are detectable at the time of initial presentation, and (3) to trend post-operative C-reactive protein (CRP) values to see if there is a difference between children who fail a single I&D and those who do not.

Methods: The medical records for 105 children who underwent operative management of septic arthritis were retrospectively reviewed.

Effect of Climate Change on Mediterranean Winter Ranges of Two Migratory Passerines.

We studied the effect of climate change on the distribution of two insectivorous passerines (the meadow pipit Anthus pratensis and the chiffchaff Phylloscopus collybita) in wintering grounds of the Western Mediterranean basin. In this region, precipitation and temperature can affect the distribution of these birds through direct (thermoregulation costs) or indirect effects (primary productivity). Thus, it can be postulated that projected climate changes in the region will affect the extent and suitability of their wintering grounds.

Coronal Plane Small-Fragment Fixation in Supracondylar Intercondylar Femur Fractures.

Supracondylar intercondylar distal femur fractures are devastating injuries that frequently have a concurrent coronal plane fracture, which mandates dedicated operative fixation. The purpose of this study was to determine whether small-fragment cortical lag screws oriented in the sagittal plane were sufficient to stabilize coronal plane fractures associated with supracondylar intercondylar distal femur fractures. The authors evaluated short-term radiographic outcomes in 56 coronal plane fractures in 44 knees (27 [61.

Nonvascular post-liver transplantation complications: from US screening to cross-sectional and interventional imaging.

Orthotopic liver transplantation is becoming an increasingly routine procedure for a variety of benign and malignant diseases of the liver and biliary system. Continued improvements in surgical techniques and post-transplantation immunosuppression regimens have resulted in better graft and patient survival. A number of potentially treatable nonvascular complications of liver transplantation are visible at imaging, and accurate diagnosis of these complications allows patients to benefit from potential treatment options.

Trypanosoma cruzi: gene expression surveyed by proteomic analysis reveals interaction between different genotypes in mixed in vitro cultures.

We have analyzed the comportment in in vitro culture of 2 different genotypes of Trypanosoma cruzi, the agent of Chagas disease, pertaining to 2 major genetic subdivisions (near-clades) of this parasite. One of the stocks was a fast-growing one, highly virulent in mice, while the other one was slow-growing, mildly virulent in mice. The working hypothesis was that mixtures of genotypes interact, a pattern that has been observed by us in empirical experimental studies.

Nontraumatic acute aortic emergencies: Part 2, Pre- and postsurgical complications related to aortic aneurysm in the emergency clinical setting.

Objective: The aim of this article is to illustrate the imaging findings and spectrum of disease entities affecting the aorta. The clinical presentation and assessment of acute aortic pathology can be elusive or deceptive, making the diagnosis challenging. The widespread availability of advanced cross-sectional imaging technology in the emergency setting puts the radiologist at the forefront of accurate and timely diagnosis.

Nontraumatic acute aortic emergencies: Part 1, Acute aortic syndrome.

Objective: The aim of this article is to illustrate the imaging findings and analyze the spectrum of findings seen in patients with acute aortic syndrome. We also will discuss the overlaps in pathophysiologic and imaging findings among aortic syndromes.

Conclusion: Acute aortic syndrome includes acute aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer.

A quantitative assessment of the insertional footprints of the hip joint capsular ligaments and their spanning fibers for reconstruction.

Quantitative descriptions of the hip joint capsular ligament insertional footprints have been reported. Using a three-dimensional digitizing system, and computer modeling, the area, and dimensions of the three main hip capsular ligaments and their insertional footprints were quantified in eight cadaveric hips. The iliofemoral ligament (ILFL) attaches proximally to the anterolateral supra-acetabular region (mean area = 4.