Modeling linear and nonlinear viscoelastic oscillatory rheometric stress-strain hysteresis of asphalt binders.

Understanding the complex stress-strain hysteresis behavior of asphalt binders under varied conditions is critical for optimizing pavement performance. This study addresses the challenge by analyzing and modeling asphalt binder responses in oscillating shear mode across different aging states (unaged, short-term aged, and long-term aged), stretch amplitudes, frequencies, and temperatures. Fifty-three stress-strain hysteresis loops were meticulously analyzed, revealing distinct stress paths relative to applied stretch levels.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.

Antimicrobial Susceptibility and Genomic Profiles of Multidrug-Resistant from Nasopharynx of Asymptomatic Children in Dhaka, Bangladesh.

Children carrying in their nasopharynx are at a higher risk of contracting systemic infection. Due to lack of sufficient information regarding such carriage, this study was conducted to explore the prevalence, antibiotic susceptibility, and genomic profiles of isolated from nasopharyngeal samples of 163 randomly selected asymptomatic Bangladeshi children aged from 5-<15 years. Antibiotic susceptibility pattern and genomic analysis of the samples were conducted using standard microbiological methods and genomic tools.

The value of genome-wide analysis in craniosynostosis.

This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis. Whole-genome or whole-exome sequencing (WGS/WES) was performed in a cohort of 59 patients (from 57 families) assessed by retrospective phenotyping as having syndromic or nonsyndromic CS. A syndromic form was identified in 51% of the unrelated cases.

Does training on the WHO package of essential noncommunicable (PEN) disease interventions enhance consultation quality? A real-world assessment of adherence to PEN protocol in primary health centres in the Republic of Moldova.

Background: Noncommunicable diseases (NCDs) pose a significant global health challenge. Primary health centres are pivotal in addressing this challenge by providing essential care to NCD patients. The WHO Package of Essential Noncommunicable (PEN) disease interventions has been designed to enhance the quality of NCD consultations and ensure adherence to the protocol.

The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.

Here, we have studied the prevalence and spectrum of genetic alterations in syndromic forms of sagittal and pansynostosis. Eighteen patients with sagittal synostosis (isolated or combined with other synostoses, except coronal) or pansynostosis were phenotypically assessed by retrospective analysis of medical records, three-dimensional computed tomography skull reconstructions, and registered photos. Patient DNAs were analyzed using a targeted next-generation sequencing (NGS) panel including 63 craniosynostosis (CS) related genes.

Investment case for two-year post university speciality training in family medicine in Tajikistan: how much is needed for continuing and scaling up the improved education of family doctors?

Background: A new two-year Post University Specialty Training (PUST) programme in family medicine was introduced to improve the quality of postgraduate speciality medical education in Tajikistan. Postgraduate education of family doctors (FDs) needs to be urgently scaled up, as 38% of FD positions in Tajikistan remained unfilled in 2018. Moreover, the international financial support for the PUST programme is ending.

Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.

Purpose: Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up.

Methods: Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.

Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesis.

Purpose: To evaluate health-related quality of life (HR-QoL), vision-related (VR-)QoL and perceptual visual dysfunction (PVD) among individuals with anophthalmia (A) and microphthalmia (M) treated with ocular prosthesis.

Methods: The study comprised 15 individuals (mean age 6.6 years; range 1.

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Craniosynostosis (CS), the premature closure of one or more cranial sutures, occurs both as part of a syndrome or in isolation (nonsyndromic form). Here, we have studied the prevalence and spectrum of genetic alterations associated with coronal suture closure in 100 Scandinavian patients treated at a single craniofacial unit. All patients were phenotypically assessed and analyzed with a custom-designed 63 gene NGS-panel.

Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP.

Objective: The current clinical measures (ONLS, R-ODS, mRS, and MRC) may not be so sensitive in capturing minimal variations or measuring fatigue in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to assess if 6-min walk test (6MWT) is able to increase the sensitivity in detecting response to therapy and to capture fatigue in CIDP patients.

Methods: We tested 6MWT in 42 CIDP patients.

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.

Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat.

Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients.

Background And Purpose: The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in Charcot-Marie-Tooth type 1A (CMT1A) patients.

Methods: Seventy CMT1A patients and 70 sex- and age-matched healthy controls were enrolled. Motor performance was assessed through the 10-m walk test, the 6-min walk test and the 9-hole peg test of the dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council score.

Early predictive factors of disability in CIDP.

The objective of this study was to identify early clinical, biochemical and electrophysiological prognostic factors of disability in CIDP. We evaluated a dataset from 60 CIDP patients that included sex, age of onset, type of onset, phenotype, disease duration, response to treatment, disability at the time of diagnosis assessed using the modified Rankin Scale (baseline mRS), cerebrospinal fluid protein levels and electrophysiological data. All patients had clinical assessment of disability through the mRS within the last 6 months (last mRS) before enrollment in the study.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Background: Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.

Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother. Here we describe a family with unexpected grand paternal transmission of a novel mutation in MTM1 (c.646_648dupGTT; p.

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.

Craniosynostosis has rarely been described in patients with Kabuki syndrome. We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports previous observations and suggests that craniosynostosis is a part of the KS phenotype.

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Shwachman-Diamond-Bodian syndrome (SDS) is a pleiotropic disorder in which the main features are bone marrow dysfunction and pancreatic insufficiency. Skeletal changes can occur, and in rare cases manifest as severe congenital thoracic dystrophy. We report a newborn boy with asphyxia, narrow thorax, and severe hypotonia initially suggesting a neuromuscular disease.

Subclinical neurological involvement does not develop if Wilson's disease is treated early.

Background & Aims: Wilson's disease (WD) is a genetic disorder of copper metabolism causing dysfunctions of various organs, mostly the liver and brain. If untreated, WD is fatal, but early treatment results in a good prognosis, although the long-term neurological outcome has not yet been clarified. To address this issue, we evaluated the neurological status of early-treated WD patients without overt nervous system impairment using neurophysiological, neuropsychological and neuroimaging procedures at least 10 years after treatment onset.

Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.

Introduction: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures.

Objective: Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene.

Methods: The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD).

[Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems].

Anophthalmia/microphthalmia (A/M) are rare congenital eye malformations. Early intervention with ocular prosthesis can stimulate orbital growth and prevent facial asymmetry. We reviewed medical records from 18 individuals with A/M (0.