Detecting Selective Laser Melting Beam Power from Ultrasonic Temporal and Spectral Responses of Phononic Crystal Artifacts Toward Real-Time Quality Monitoring.

Unlike many conventional manufacturing techniques, 3D Printing/Additive Manufacturing (3DP/AM) fabrication creates builds with unprecedented degrees of structural and geometrical complexities. However, uncertainties in 3DP/AM processes and material attributes could cause geometric and structural quality issues in resulting builds and products. Evaluating the sensitivity of process parameters and material properties for process optimization, quality assessment, and closed-loop control is crucial in practice.

Ultrasonic Evaluation of Laser Scanning Speed Effect on the Spectral Properties of Three-Dimensional-Printed Metal Phononic Crystal Artifacts.

Additive manufacturing/three-dimensional printing (AM/3DP) processes promise a flexible production modality to fabricate a complex build directly from its digital design file with minimal postprocessing. However, some critical shortcomings of AM/3DP processes related to the build quality and process repeatability are frequently experienced and reported in the literature. In this study, an real-time nondestructive monitoring framework based on the dispersive properties of phononic crystal artifacts (PCAs) to address such quality challenges is described.

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications.

Objective: To unravel the clinical and genetic specifications of Neuronal ceroid lipofuscinosis (NCL).

Methods: This is a retrospective cross-sectional study conducted in the Department of Pediatric Neurology Children Hospital and University of Child Health Sciences, Lahore, Pakistan from March 2017 to March 2022. The primary outcome was to measure genotype-phenotype correlation by segregation of phenotypes according to genotype.

variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify as a new gene implicated in PD and childhood neurodegeneration.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.

Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum.

Loss-of-function mutations in the TLDc family of proteins cause a range of severe childhood-onset neurological disorders with common clinical features that include cerebellar neurodegeneration, ataxia and epilepsy. Of these proteins, oxidation resistance 1 (OXR1) has been implicated in multiple cellular pathways related to antioxidant function, transcriptional regulation and cellular survival; yet how this relates to the specific neuropathological features in disease remains unclear. Here, we investigate a range of loss-of-function mouse model systems and reveal that constitutive deletion of leads to a rapid and striking neuroinflammatory response prior to neurodegeneration that is associated with lysosomal pathology.

Comparison of Preoperative Analgesics on the Efficacy of Inferior Alveolar Nerve Block with Patients Having Symptomatic Irreversible Pulpitis: A Double-Blinded, Randomized Controlled Trial.

Objective: The objective of this study was to evaluate the effectiveness of preoperative analgesics on inferior alveolar nerve blocks (IANB) during root canal treatment in patients with symptomatic irreversible pulpitis of the mandibular molars.

Methods: This study was a randomized, double-blinded, superiority trial with a parallel study design. A total of 120 subjects with symptomatic irreversible pulpitis were randomly assigned to one of four groups: group A (con- trol, Vitamin E, Evion 400 mg), group B (Diclofenac sodium, Voltral SR100 100 mg), group C (Piroxicam, Feldene 20 mg), and group D (Tramadol, Tramal 50 mg).

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels.

Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.

Background: The VPS13 family of proteins has been implicated in lipid transport and trafficking between endoplasmic reticulum and organelles, to maintain homeostasis of subcellular membranes. Recently, pathogenic variants in each human VPS13S gene, have been linked to distinct human neurodevelopmental or neurodegenerative disorders. Within the VPS13 family of genes, VPS13D is known to be implicated in mitochondria homeostasis and function.

Machine learning framework for extracting micro-viscoelastic and micro-structural properties of compressed oral solid dosage forms.

A compressed pharmaceutical oral solid dosage (OSD) form is a strongly micro-viscoelastic material composite arranged as a network of agglomerated particles due to its constituent powders and their bonding and fractural mechanical properties. An OSD product's Critical Quality Attributes, such as disintegration, drug release (dissolution) profile, and structural strength ("hardness"), are influenced by its micro-scale properties. Ultrasonic evaluation is direct, non-destructive, rapid, and cost-effective.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of -related disorder.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.

Methods: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.

Silver-Russell syndrome associated with type-I Chiari malformation. A case report.

Comprehensive medical evaluation is important for patients with SRS to identify associated medical conditions and provide timely interventions. Clinicians should remain vigilant for potential neurological manifestations in SRS patients.

Early detection and assessment of invisible cracks in compressed oral solid dosage forms.

In the pharmaceutical manufacturing industry, real-time in situ quality monitoring for detecting defects at an early stage is a desirable ability, especially in high-rate production, to minimize downstream quality-related issues, financial losses, and timeline risks. In this study, we focus on the early detection of crack formation in compressed oral solid dosage (OSD) forms at its onset before complete delamination and/or capping in downstream processing. The detection of internal tablet cracks related to local micro-stress/strain states, internal granularity (texture), and micro-structure failures is rather unlikely by traditional testing methods, such as the USP reference standards for friability, fracturing, or hardness testing.

Micro-viscoelastic Characterization of Compressed Oral Solid Dosage Forms with Ultrasonic Wave Dispersion Analysis.

Due to their constituent powders, the materials of advanced compressed oral solid dosage (OSD) forms are micro-composites and strongly visco-elastic at macro- and micro-length scales. The disintegration, drug release, and mechanical strength of OSD forms depend on its micro-texture (such as porosity) and micro-scale physical/mechanical properties. In the current work, an algorithmic ultrasonic characterization framework for extracting the micro-visco-elastic properties of OSD materials is presented, and its applicability is demonstrated with a model material.

Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan.

Background: There is dearth of information on the spectrum of neurological disorders among children less than 18 years of age. The aim of this study is to identify the commonly presenting neurological disorders among children aged ≤ 18 years in Pakistan.

Methods: We conducted a cross-sectional study at three tertiary care hospitals in Pakistan.