Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the Gene (R206H).

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder caused by heterozygous pathogenic variants and is characterized by both progressive heterotopic ossification of the soft tissues and congenital malformations of the great toe. In addition to pathological skeletal metamorphosis, patients with FOP experience diverse neurological symptoms such as chronic pain and involuntary movements; however, little is known about the association between FOP and epileptic seizures. We report the case of a young boy with FOP who sustained multiple major fractures due to epileptic loss of consciousness.

Meclozine and growth hormone ameliorate bone length and quality in experimental models of achondroplasia.

Introduction: Achondroplasia (ACH) is a common skeletal dysplasia associated with short-limbed short stature caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Meclozine was found to inhibit FGFR3 signaling using a drug repositioning strategy. In some countries, growth hormone (GH) has been employed to ameliorate short stature in children with ACH.

Hydrogen (H)/Toluene (TOL) Separation via One and Two Stages of the Bis(triethoxysily)ethane (BTESE) Membranes.

The separation ability of bis(triethoxysilyl)ethane (BTESE) membranes for hydrogen (H) purification from hydrogen (H)/toluene (TOL) gas mixtures after a methylcyclohexane (MCH) dehydrogenation process was investigated via one-stage and two-stage membrane processes. This study revealed that BTESE membranes of varied pore sizes (0.4, 0.

Gradual Reduction Using Overhead Traction for Late-Detected Developmental Dysplasia of the Hip: A Report of Three Cases Diagnosed Among Children Over Four Years Old.

Optimal reduction methods for late-detected developmental dysplasia of the hip (DDH) remain debatable. Gradual reduction (GR) using traction is a safer and more reliable option for late-detected DDH than closed reduction or open reduction with or without preliminary traction. GR using overhead traction, one of the current GR methods, has been indicated for children of walking age up to four years of age, whereas the upper age limit of this method has not yet been determined.

Speckle-Tracking: Incremental Role in Diastolic Assessment of Pediatric Patients with Chronic Kidney Disease.

Background: Cardiovascular complications are the leading cause of mortality in pediatric patients with chronic kidney disease (CKD). Echocardiographic assessment of diastolic function in CKD has been limited to spectral and tissue Doppler imaging, known to be less reliable techniques in pediatrics. Two-dimensional Speckle tracking echocardiography (2DST) derived left atrial (LA) strain has recently been confirmed as a robust measure of diastolic function.

Quality of life in adult patients with developmental dysplasia of the hip who were treated for hip dislocation during childhood.

Developmental dysplasia of the hip (DDH) can lead to premature loss of hip function if not properly treated; however, few studies have focused on the long-term outcomes of DDH. We conducted a survey of health-related quality of life in adult patients with DDH who were treated for hip dislocation during childhood. We sent a questionnaire to 287 adult patients with DDH who were treated for hip dislocation during childhood in our institutions.

Bis(triethoxysilyl)ethane (BTESE)-Organosilica Membranes for HO/DMF Separation in Reverse Osmosis (RO): Evaluation and Correlation of Subnanopores via Nanopermporometry (NPP), Modified Gas Translation (mGT) and RO Performance.

A 40 cm length Bis(triethoxysilyl)ethane (BTESE) membrane having different pore sizes was successfully prepared by changing the number of coating times for gas permeation (GP) and organic solvent reverse osmosis (OSRO) separation study. It was found that BTESE-6 membranes prepared through six-time coating consisted of small-sized pores in the range 0.56 to 0.

Rapid Progression of Skin Sclerosis Following Surgery for Carpal Tunnel Syndrome: A Case of Diffuse Cutaneous Systemic Sclerosis.

Carpal tunnel syndrome (CTS) is a frequently encountered compressive neuropathy that is often treated surgically. Here, we present an unusual case of a 74-year-old female who developed a rapid emergence of skin sclerosis following CTS surgery. The condition was initially misdiagnosed as complex regional pain syndrome.

Steam recovery from flue gas by organosilica membranes for simultaneous harvesting of water and energy.

Steam recovery from the spent gases from flues could be a key step in addressing the water shortage issue while additionally benefiting energy saving. Herein, we propose a system that uses organosilica membranes consisting of a developed layered structure to recover steam and latent heat from waste. Proof-of-concept testing is conducted in a running incinerator plant.

Kawasaki Disease: A Never-ending Story?

The most severe complication of Kawasaki disease, an inflammatory disorder of young children, is the formation of coronary artery aneurysms. It is known that patients with coronary artery aneurysms, particularly those with medium and large lesions, have a higher risk of future major cardiovascular events. In contrast, there is a lack of data on the cardiovascular status in long-term follow-up for Kawasaki disease patients without coronary involvement or with self-limited coronary artery aneurysms, resulting in most patients being discharged after 5 years.

First record of (Ascomycota: Laboulbeniales) on Drosophilidae from Japan.

Three species were detected on five drosophilid species from Japan. We report on and , on and , and on . Except for , each of these species is a newly identified host.

Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia.

Achondroplasia (ACH) is a common skeletal dysplasia characterized by a disproportionately short stature. We found that meclizine, which is an over-the-counter drug for motion sickness, inhibited the fibroblast growth factor receptor 3 (FGFR3) gene using a drug repositioning strategy, and meclizine 1 and 2 mg/kg/day promoted bone growth in a mouse model of ACH. A previous phase 1a clinical trial for children with ACH demonstrated that a single dose of meclizine 25 and 50 mg was safe and that the simulated plasma concentration achieved steady state approximately 10 days after the first dose.

Prognostic factors for mobility in children with osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility. Although the disease severity is known to influence the ability to walk, little is known about how children with severe OI can achieve practical ambulation (PA). This study aimed to determine the early predictors of future mobility in children with OI.

Appropriate Surgical Timing of Salter Innominate Osteotomy for Residual Acetabular Dysplasia in Children.

Background: Salter innominate osteotomy (SIO) provides favorable results for treating residual acetabular dysplasia in young children. In this study, we examined the midterm results of SIO according to the age at surgery to determine the optimal timing of this procedure.

Methods: We retrospectively examined 50 hips of 42 patients (8 boys and 34 girls) with acetabular dysplasia who underwent SIO and were followed up until skeletal maturity.

Guided growth for coronal lower limb deformities in skeletal dysplasia.

Coronal angular deformities of the lower limbs are common in young children with skeletal dysplasia . The guided growth technique has been applied to correct deformities in children, but there are few comprehensive reports on the effectiveness of the procedure in skeletal dysplasia. We reviewed 44 limbs of 22 patients with various types of skeletal dysplasias who underwent guided growth surgery.

Segmental cardiac strain assessment by two-dimensional speckle-tracking echocardiography in surviving MIS-c patients: Correlations with myocardial flow reserve (MFR) by 13 N-ammonia PET-CT.

Background: Multisystem inflammatory syndrome in children (MIS-c) is associated with severe cardiovascular impairment and eventually death. Pathophysiological mechanisms involved in myocardial injury were scarcely investigated, and cardiovascular outcomes are uncertain. Autopsy studies suggested that microvascular dysfunction may be relevant to LV impairment.

Disease-specific complications and multidisciplinary interventions in achondroplasia.

Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In addition to short stature, patients with ACH have a high prevalence of medical complications, including upper airway obstructive apnea, increased mortality, foramen magnum stenosis, hydrocephalus, developmental delay, recurrent ear infections, genu varum, obesity, and spinal canal stenosis, throughout their whole life.

Docking phenomenon and subsequent acetabular development after gradual reduction using overhead traction for developmental dysplasia of the hip over six months of age.

Purpose: This study aimed to explore the docking of the femoral head into the acetabulum after gradual reduction (GR) using traction for developmental dysplasia of the hip (DDH) and the impact on subsequent acetabular development.

Methods: A total of 40 patients with DDH (42 hips) undergoing GR using overhead traction and spica casting were retrospectively reviewed. The presence of inverted labrum and the coronal and axial femoral-acetabular distances (FADs) were compared between MRI immediately and five weeks after spica casting.

BaZnAlO with a Framework of ([O(Zn/Al)]/Ba)(Zn/AlO) Motifs.

Single crystals of a new oxide, BaZnAlO (melting point = 1452 K), were grown in a melt-solidified sample prepared by heating a compact of a BaCO, ZnO, and AlO mixed powder in a dry airflow. BaZnAlO can be handled in dry air, but it decomposes into carbonates, hydroxides, and hydrates in humid air. Single-crystal X-ray structure analysis clarified that BaZnAlO crystallizes in a cubic cell ( = 16.

Heart function in juvenile idiopathic arthritis patients: A biventricular two-dimensional speckle-tracking echocardiography study.

Objectives: We evaluated cardiac function in juvenile idiopathic arthritis (JIA) patients by 2D speckle-tracking echocardiography (2DSTE) and to assess possible associations with clinical, laboratorial, and treatment data.

Methods: A group of 42 JIA patients and 42 healthy controls were evaluated using both conventional echocardiography and 2DSTE. JIA patients underwent clinical and laboratory assessment.