Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.

To elucidate the lipidomic and metabolomic alterations associated with hypertrophic cardiomyopathy (HCM) pathogenesis, we utilized cmybpc3-/- zebrafish model. Fatty acid profiling revealed variability of 10 fatty acids profiles, with heterozygous (HT) and homozygous (HM) groups exhibiting distinct patterns. Hierarchical cluster analysis and multivariate analyses demonstrated a clear separation of HM from HT and control (CO) groups related to cardiac remodeling.

Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.

Calmodulin (CaM) is a ubiquitous, small cytosolic calcium (Ca)-binding sensor that plays a vital role in many cellular processes by binding and regulating the activity of over 300 protein targets. In cardiac muscle, CaM modulates directly or indirectly the activity of several proteins that play a key role in excitation-contraction coupling (ECC), such as ryanodine receptor type 2 (RyR2), l-type Ca (Ca1.2), sodium (NaV1.

Comparative Study for Surgical Treatment of Acute Distal Tibiofibular Syndesmotic Lesions Using the Modified Suture-Button Fixation Versus Static Syndesmotic Screw Fixation.

Introduction: Several techniques to treat acute distal tibiofibular instability are described consisting in static and dynamic fixation procedures. The aim of our work is to compare the outcomes of acute syndesmotic injury fixation between the modified technique of dynamic fixation using the suture-button principle as an efficient and low-cost method and the classic static fixation.

Methods: It is a prospective study including patients presenting with acute syndesmotic injury.

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC.

Surgical management of tibia refracture with a bent intramedullary nail: A case report and review of the literature.

Intramedullary nailing is the gold standard for long bone fractures in the lower limbs. Fractures of the tibia with bending of the intramedullary nail is a very uncommon complication. Removing a bent nail is an unpredictable and challenging procedure for any trauma surgeon.

Risk factors for malunion of distal tibia fractures treated by intramedullary nailing.

Background: The treatment of distal tibia fractures (DTF) has historically been a difficult challenge for orthopedic surgeons because of the particular characteristics of this anatomical region. Intra medullary nailing (IMN) remains the best treatment option. However, achieving and maintaining perfect reduction and stable fixation with IMN can be technically challenging due to the large medullary cavity within a short distal fragment.

Extraspinal osteoarticular tuberculosis: A diagnostic and therapeutic challenge.

Tuberculosis (TB) is a major cause of morbidity and mortality, representing a challenge for health-care providers worldwide. Extraspinal osteoarticular tuberculosis (ESOTB) represents a rare location of TB. We aim to describe ESOTB focusing on clinical, diagnostic, and therapeutic characteristics of this entity.

Control of TGFβ signalling by ubiquitination independent function of E3 ubiquitin ligase TRIP12.

Transforming growth factor β (TGFβ) pathway is a master regulator of cell proliferation, differentiation, and death. Deregulation of TGFβ signalling is well established in several human diseases including autoimmune disorders and cancer. Thus, understanding molecular pathways governing TGFβ signalling may help better understand the underlying causes of some of those conditions.

An unusually aggressive multiple non-ossifying fibroma of the distal tibia and fibula: A case report.

Background And Purpose: Non-ossifying fibroma (NOF) is one of the most commonly seen benign bone tumours. Although renowned for their benign behaviour and tendency for spontaneous healing, these tumours can occasionally exhibit an aggressive course. Few published papers have focused on the treatment options of symptomatic NOFs.

Surgical management of neck of femur fractures in patients younger than sixty-five years: a comparative study of three fixation methods.

Purpose: Several surgical implants have been used for the treatment of neck of femur fracture (NOF) in younger patients such as dynamic hip screw (DHS) and cannulated compression screw. However, the superiority of one or another osteosynthesis device remains a matter of debate. The aim of this work is to evaluate and compare three fixation modalities: Cannulated Hip Screws (CHS), DHS and DHS associated to anti-rotating screw for surgical treatment of femoral neck fracture in young adults.

An unpredictable complication of femoral reaming: When the reamer gets stuck.

Intramedullary nailing has become the gold standard in surgical treatment for long bones shaft fractures. Many intraoperative complications may occur. We report an unusual complication of trapped bone fragments between the reamer and the cortex during intramedullary nailing of a simple femur shaft fracture.

Unusual case of lateral subtalar joint dislocation associated with calcaneal fracture and lateral malleolus fracture.

Introduction: Subtalar dislocation is defined by a simultaneous total separation of the talocalcaneal and talonavicular joints. Lateral variety is the rarest. It is the result of a high energy trauma.

Comparison of the results of the synthesis of Schatzker II and III tibial plateau fractures by screwing versus plate.

Purpose: Lateral tibial plateau fractures with depression are the most common. Their treatment is currently surgical. Many therapeutic procedures have been described.

Performance Evaluation of a New Fluorescent-Based Lateral Flow Immunoassay for Quantification of Hemoglobin A1c (HBA1c) in Diabetic Patients.

Background: Rapid hemoglobin A1C (HbA1c) level monitoring is essential in slowing the progression of diabetes. This need becomes challenging in low resources countries where the social burden of the disease is overwhelming. Recently, fluorescent-based lateral flow immunoassays (LFIAs) gained wide attention for small laboratories and population surveillance.

Hereditary orotic aciduria identified by newborn screening.

Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill.

The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.

Background: Type 2 diabetes (T2D) is a critical healthcare challenge and priority in Qatar which is listed amongst the top 10 countries in the world, with its prevalence presently at 17% double the global average. MicroRNAs (miRNAs) are implicated in the pathogenesis of (T2D) and long-term microvascular complications including diabetic retinopathy (DR).

Methods: In this study, a T2D cohort that accurately matches the characteristics of the general population was employed to find microRNA (miRNA) signatures that are correlated with glycemic and β cell function measurements.

Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease.

Diabetic nephropathy (DN) is one of the most established microvascular complications of diabetes and a key cause of end-stage renal disease. It is well established that gene susceptibility to DN plays a critical role in disease pathophysiology. Therefore, many genetic studies have been performed to categorize candidate genes in prominent diabetic cohorts, aiming to investigate DN pathogenesis and etiology.

Intra-articular osteolipoma of the elbow: A case report and a review of the literature.

Introduction: Lipomas are the most common benign mesenchymal tumors. The intra-articular localization is exceptional.We report the first case of an intra-articular osteolipoma at the elbow.

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose-1-phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it from becoming universal. In order to develop the Israeli newborn screening pilot algorithm for galactosemia, flow injection analysis tandem mass spectrometry measurement of galactose-1-phosphate in archived dried blood spots from newborns with classical galactosemia, galactosemia variants, epimerase deficiency, and normal controls, was conducted.

CD14+/CD31+ monocytes expanded by UM171 correct hemophilia A in zebrafish upon lentiviral gene transfer of factor VIII.

Emerging gene therapy clinical trials test the correction of hemophilia A (HA) by replacing factor VIII (FVIII) in autologous hematopoietic stem cells (HSCs). Although it is known that platelets, monocyte/macrophages, and mesenchymal stromal cells can secrete transgenic FVIII, a systematic examination of blood lineages as extrahepatic sources of FVIII, to our knowledge, has not yet been performed. In this study, we sought to provide a comprehensive map of native and lentivirus-based transgenic FVIII production from HSC stage to mature blood cells, through a flow cytometry analysis.

Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model.

Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart's contractile machinery. To investigate the HCM-related cardiac impairment, we generated a zebrafish -knockout model. These knockout zebrafish displayed significant morphological heart alterations related to a significant decrease in ventricular and atrial diameters at systolic and diastolic states at the larval stages.