The effect of LARP7 on gene expression during osteogenesis.

Background: La-related protein 7 (LARP7) is a key regulator of RNA metabolism and is thought to play a role in various cellular processes. LARP7 gene autosomal recessive mutations are the cause of Alazami syndrome, which presents with skeletal abnormalities, intellectual disabilities, and facial dysmorphisms. This study aimed to determine the role of LARP7 in modulating gene expression dynamics during osteogenesis.

Correction: Sonkaya et al. Using Objective Speech Analysis Techniques for the Clinical Diagnosis and Assessment of Speech Disorders in Patients with Multiple Sclerosis. 2024, , 384.

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Microfluidic Fabrication of Gelatin-Nano Hydroxyapatite Scaffolds for Enhanced Control of Pore Size Distribution and Osteogenic Differentiation of Dental Pulp Stem Cells.

The combination of gelatin and hydroxyapatite (HA) has emerged as a promising strategy in dental tissue engineering due to its favorable biocompatibility, mechanical properties, and ability to support cellular activities essential for tissue regeneration, rendering them ideal components for hard tissue applications. Besides, precise control over interconnecting porosity is of paramount importance for tissue engineering materials. Conventional methods for creating porous scaffolds frequently encounter difficulties in regulating pore size distribution.

Dropping Objects in Carpal Tunnel Syndrome: Clinical and Electrophysiological Features.

Background Dysfunction in both afferent sensory and efferent motor components of the median nerve may contribute to the manifestation of the symptom of dropping objects (DO) in carpal tunnel syndrome (CTS). The objective of this study was to compare the clinical and electrophysiological characteristics of CTS patients with dropping objects (wDO) and those without dropping objects (w/oDO). The study evaluated the correlation between DO symptoms and median partial conduction block, as well as the reduction in median motor conduction velocity at the wrist.

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.

Background: Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females and is characterized by a period of normal development followed by severe cognitive, motor, and communication impairment. The syndrome is predominantly caused by mutations in the MECP2. This study aimed to use comprehensive multi-omic analysis to identify the molecular and metabolic alterations associated with Rett syndrome.

AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis.

Placental transmogrification of the lung (PTL) is a rare pulmonary condition characterized by the presence of immature placental villous structures. The etiology and molecular mechanisms underlying this disease remain largely unknown. This functional study aimed to identify the molecular signatures in the pathogenesis of PTL via comprehensive transcriptome analysis.

A Rare Complication: Severe Valgus Deformity After Open-Wedge High Tibial Osteotomy.

Introduction: In the treatment of medial gonarthrosis, the high tibial osteotomy (HTO) is recognized as an effective joint-sparing surgical procedure. Severe valgus deformity is not a common complication after HTO. There are no cases in the literature reporting valgus deformity of 10° or more after HTO.

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD.

Prevalence and incidence of multiple sclerosis in Turkey: A nationwide epidemiologic study.

Background: Many studies on multiple sclerosis (MS) reveal different prevalence and epidemiologic results.

Objectives: In this study, we aimed to determine the epidemiologic profile of MS using official health records in Turkey.

Methods: Patients diagnosed with MS from the official health data of the Ministry of Health, representing the entire population of Turkey, were included in the study.

Acquired immune resistance is associated with interferon signature and modulation of KLF6/c-MYB transcription factors in myeloid leukemia.

Resistance to immunity is associated with the selection of cancer cells with superior capacities to survive inflammatory reactions. Here, we tailored an ex vivo immune selection model for acute myeloid leukemia (AML) and isolated the residual subpopulations as "immune-experienced" AML (ieAML) cells. We confirmed that upon surviving the immune reactions, the malignant blasts frequently decelerated proliferation, displayed features of myeloid differentiation and activation, and lost immunogenicity.

Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model.

Retinal dystrophies are a common health problem worldwide that are currently incurable due to the inability of retinal cells to regenerate. Inherited retinal diseases (IRDs) are a diverse group of disorders characterized by progressive vision loss caused by photoreceptor cell dysfunction. The eye has always been an attractive organ for the development of novel therapies due to its independent access to the systemic pathway.

The role of oligoclonal band count and IgG index in treatment response and disease activity in multiple sclerosis.

Background/aim: Multiple sclerosis (MS) is an inflammatory demyelinating central nervous system (CNS) disease. Among the paraclinical tests, brain and spinal Magnetic Resonance Imaging (MRI) is primarily involved in the diagnosis process, and cerebrospinal fluid (CSF) analysis is fundamental in diagnosing MS and the differential diagnosis. A positive relationship was demonstrated between oligoclonal band (OCB) positivity, CSF band number and immunoglobulin G(IgG) index.

Neurophysiologic cut off values for safe resection of patients with supratentorial gliomas.

Background: Gliomas have infiltrative nature and tumor volume has direct prognostic value. Optimal resection limits delineated by high-frequency monopolar stimulation with multipulse short train technique is still a matter of debate for safe surgery without (or with acceptable) neurological deficits. It is also an enigma whether the same cut-off values are valid for high and low grades.

Synovectomy induced patellar tendon ossification in patient with rheumatoid arthritis: A case report and review of the literature.

Introduction: Patellar tendon ossification is a rare complication that primarily occurs following a knee injury. This article aims to describe, for the first time, a case of patellar tendon ossification following synovectomy.

Case Presentation: A 48-year-old male with a diagnosis of rheumatoid arthritis presented with swelling in his left knee following a synovectomy procedure.

Pro-fibrogenic and adipogenic aspects of chronic muscle degeneration are contributed by distinct stromal cell subpopulations.

Chronic skeletal muscle degeneration is characterized by fiber atrophy accompanied by deposition of extracellular matrix (ECM) components and fatty infiltration. Excessive accumulation of ECM leads to fibrosis via the contribution of fibro-adipogenic precursors (FAPs). Fibrosis also accompanies disuse atrophy and sarcopenia without significant inflammation.

Mutated Transcripts of Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.

Introduction: Mowat-Wilson syndrome (MWS) is an autosomal-dominant complex developmental disorder characterized by distinctive facial appearance, intellectual disability, epilepsy, and various clinically heterogeneous abnormalities reminiscent of neurocristopathies. MWS is caused by haploinsufficiency of due to heterozygous point mutations and copy number variations.

Case Presentation: We report on two unrelated affected individuals with novel indel mutations, molecularly confirming the diagnosis of MWS.

Maleic Acid as a Co-Former for Pharmaceutically Active GABA Derivatives: Mechanochemistry or Solvent Crystallization?

In this study, we compare the mechanochemical and classical solvent crystallization methods for forming maleates of GABA and its pharmaceutically active derivatives: Pregabalin, Gabapentin, Phenibut, and Baclofen. Common characterization techniques, like powder and single crystal X-ray diffraction, IR-spectroscopy, differential scanning calorimetry, thermogravimetric analysis and H-NMR spectroscopy, are used for the evaluation of structural and physicochemical properties. Our work shows that maleate formation is possible with all investigated target compounds.

A Reminder for Chronic Ankle Pain: Case Report of Talar Osteoid Osteoma with Late Diagnosis.

Background: Talus osteoid osteomas are often overlooked. This pathology, which can cause chronic ankle pain, should be kept in mind when evaluating differential diagnoses.

Case Report: A 21-year-old female applied to our clinic with chronic ankle pain diagnosed as talus OCD.

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.

Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (<-4 SDS), and normal mental development. 3M syndrome is genetically heterogeneous. Up to date, causative mutations have been demonstrated in 3 genes, cullin-7 (), obscurin-like 1 (), and coiled coil domain containing protein 8 ().

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Primordial dwarfism (PD) is one of a highly heterogeneous group of disorders characterized by severe prenatal/postnatal growth restriction. Defects in various pathways such as DNA repair mechanism, impaired centrioles, abnormal IGF expression, and spliceosomal machinery may cause PD including Seckel syndrome, Silver-Russell syndrome. Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, II, and Meier-Gorlin syndrome.