An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New Gene Variants.

Background/objectives: Biallelic mutations in the gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). In this study, we describe a new case carrying a previously identified mutation, provide an updated analysis of the relative frequencies of the clinical features across all published cases (including the three latest studies), and perform a bioinformatics analysis of the newly identified PTRH2 protein variants from a structural perspective.

Methods: Clinical examination of the patients was carried out, and genetic testing was performed using a genome sequencing strategy.

I was hanging in the air and holding on tight. It's exhausting: An autistic perspective on their journey through the general school system.

In the past decade, autistic children have increasingly enrolled in general schools worldwide. However, most insights into their educational experiences come from educators and parents. There is a gap in understanding autistic children's perspectives on their educational experiences.

A Virtual Reality Platform for Evaluating Deficits in Executive Functions in Deaf and Hard of Hearing Children-Relation to Daily Function and to Quality of Life.

Childhood hearing loss is a common chronic condition that may have a broad impact on children's communication and motor and cognitive development, resulting in functional challenges and decreased quality of life (QoL). This pilot study aimed to compare executive functions (EFs) as expressed in daily life and QoL between deaf and hard-of-hearing (D/HH) children and children with typical hearing. Furthermore, we examined the relationship between EFs and QoL in D/HH children.

"When I go back to painting, I am 'Alice in Wonderland": older women coping with age-related crises through visual artmaking.

Background: The creative process of visual artmaking provides an opportunity for older women to express themselves and explore their emotions, thoughts, and experiences. This study examined the roles of visual artmaking in older women's lives in general and in relation to the ongoing challenges of aging.

Methods: The sample was composed of 21 Israeli women aged 60-90, who indicated that they produced visual artworks on an ongoing basis.

-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.

Mutations in the gene (S phase Cyclin A-Associated Protein residing in the Endoplasmic Reticulum) have recently been associated with retinitis pigmentosa (RP) and intellectual disability (ID). In 2011, a possible involvement of in human diseases was discovered for the first time due to the identification of a homozygous mutation causing ID in an Iranian family. Later, five studies were published in 2019 that described patients with autosomal recessive syndromic retinitis pigmentosa (arRP) accompanied by ID and attention-deficit/hyperactivity disorder (ADHD).

High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome.

Pseudotumor cerebri (PTC) is a disorder characterized by increased intracranial pressure in the absence of a structural lesion or other identifiable cause. Cytokines, which are involved in the regulation of immune responses and inflammation, have been implicated in the pathogenesis of PTC. In a prospective, cross-sectional study at three centers in Israel, we analyzed cerebrospinal fluid (CSF) samples from 60 children aged 0.

Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.

Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the gene have been suggested to cause a rare autosomal recessive disorder characterized by an infantile-onset multisystem neurologic endocrine and pancreatic disease (IMNEPD). Patients with IMNEPD present varying clinical manifestations, including global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, sensorineural hearing loss, and abnormalities of thyroid, pancreas, and liver.

"It is like you are in a golden cage": How autistic students experience special education classrooms in general high schools.

Background: Students with autism spectrum disorder (ASD) often grapple with the challenges and demands of a general school environment. To date, studies have focused on inclusion within that environment, not distinguishing the experience of students in ASD special education classrooms within the general school. This study examined the retrospective perceptions of high-functioning autistic high school graduates who had been in ASD special education classrooms in general high schools to understand their experience, learn about their needs, and enhance future educational experiences.

Facilitators and impediments in inclusive education for students with intellectual developmental disability: Perceptions of school staff and parents in Israel.

Students with intellectual developmental disability (IDD) may have impairments in conceptual, social, and daily life areas that will require support when these students are included in mainstream settings. In order to examine the facilitators and impediments involved in inclusion of students with IDD in regular schools in Israel, we interviewed six parents of students with IDD who were enrolled in inclusive classes, five teachers of inclusive classes, one teaching assistant and two school principals. Analysis of the interview transcripts revealed the perceptions regarding the included students, by their parents and the school staff.

Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presented with atypical phenotypic manifestation and protracted clinical course of CLN8 carrying a novel compound heterozygous variant at the gene.

"I Was Like a Bird Without Wings": Autistic Women's Retrospective Experiences in General Schools.

Autistic individuals' experience of the inclusion process is poorly understood, especially that of female pupils. This study retrospectively explored the views of autistic women who were included in general schools throughout childhood and adolescence, from elementary to high school, to understand their unique experiences and learn more about their needs in general schools. Semi-structured interviews were conducted, data were thematically analyzed, and key issues emerged pertaining to each educational level.

A systematic review advocating a framework and benchmarks for assessing outdoor human thermal perception.

Since the early 2000's, much attention has been paid to human thermal assessment in urban outdoor environments in different climatic zones. Some previous studies have argued that an absence of an agreed protocol for outdoor human bio-meteorological research causes complexity in comparing the studies' results for several reasons: An abundance of human thermal indices, a variety of interpretations of bio-meteorological terms, an array of procedures for data collection and a lack of agreed methods in determining thermal comfort ranges and index modifications. This study aims to review strategies and methods for human bio-meteorological research and to examine their suitability for thermal perception assessment.

Multidomain Cognitive Impairment in Children With Pseudotumor Cerebri Syndrome.

Background: Although prompt and suitable treatment of pseudotumor cerebri syndrome (PTCS) leads to an excellent prognosis and can prevent optic nerve atrophy, adults show long-lasting neurocognitive deficits even with prompt treatment. The purpose of our study was to evaluate cognitive outcomes in pediatric patients with PTCS.

Methods: We performed a prospective study on children diagnosed with PTCS and a healthy control group.

The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?

The aim of this study was to determine the trend of consanguineous marriage among the Arab population in Israel. Socio-demographic data for the Arab population were extracted from national health surveys conducted in Israel in 2007 and 2017. The prevalence of consanguineous marriage among the Arab population in Israel increased significantly from 36.

COVID-19 related difficulties and perceived coping among university and college students: the moderating role of media-related exposure and stress.

: University and college students are not usually identified as a population at risk during the COVID-19 pandemic. Yet, there is growing evidence of their specific distress associated with facing multiple abrupt changes and the need for rapid adaptation to a variety of academic, social, and financial challenges. The extent of their exposure to COVID-19 media and the associated media-related stress may further impair students' perceived coping.

Exogenous Abscisic Acid Confers Salinity Tolerance in Chlamydomonas reinhardtii During Its Life Cycle.

The plant hormone abscisic acid (ABA) coordinates responses to environmental signals with developmental changes and is important for stress resilience and crop yield. However, fundamental questions remain about how this phytohormone affects microalgal growth and stress regulation throughout the different stages of their life cycle. In this study, the effects of ABA on the physiology of the freshwater microalga Chlamydomonas reinhardtii at its different life cycle stages were investigated.

Unconventional high-value products from microalgae: A review.

Microalgae have gained significant importance in biotechnology development, providing valuable goods and services in multiple applications. Although there is a rising market for most of these applications, the incorporation and introduction of microalgae into new venues will extend in the near future. These advances are due to the vast biodiversity of microalgal species, recent genetic engineering tools, and culture techniques.

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment.

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.

The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. Recently, a TMCO1 gene mutation was shown to be responsible for an autosomal recessive CFTD syndrome characterized by craniofacial dysmorphism, skeletal anomalies, and intellectual disability. In the current report, we describe two members of a consanguineous family from an Arab community in Israel who were clinically diagnosed as suffering from craniofacial dysmorphism, skeletal anomalies, intellectual disability, and epilepsy.

Exploration of Risk Factors for Type 2 Diabetes among Arabs in Israel.

Background: Type 2 Diabetes Mellitus (T2DM) is becoming increasingly prevalent and is considered to be a major public health threat worldwide. Behavioral and sociodemographic factors associated with T2DM vary within different societies.

Objective: The aim of this study is to determine the various behavioral and sociodemographic factors associated with T2DM in the Arab society in Israel.

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c.

An exploratory study of parent-child association in sensory modulation disorder involving ADHD-related symptoms.

Background: Sensory modulation disorder (SMD) and attention deficit hyperactivity disorder (ADHD) can co-occur and have overlapping symptoms, thus challenging practitioners. This study aimed to phenotypically explore parent-child associations in SMD, and the interplay between SMD- and ADHD-related symptoms in children with SMD and their parents.

Methods: A cross-sectional study examined 70 parents (n = 35 mothers; n = 35 fathers) and their 35 children with and without SMD, aged 4-6 years.

Effectiveness of Modified Constraint-Induced Movement Therapy Compared With Bimanual Therapy Home Programs for Infants With Hemiplegia: A Randomized Controlled Trial.

Objective: We examined the effectiveness of modified constraint-induced movement therapy (mCIMT) in treating infants with hemiplegic cerebral palsy and compared therapy outcomes with a nonconstraining bimanual therapy (BIM) of equal intensity.

Method: In a single-blinded randomized controlled trial, 33 infants with hemiplegia (mean corrected age = 11.1 mo, standard deviation = 2.