Rare among Rare: Phenotypes of Uncommon CMT Genotypes

(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, MORC2, HINT1, LITAF, GARS, and autosomal dominant GDAP1 are responsible for only a minority of CMT cases. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes (BSCL2, MORC2, HINT1, LITAF, GARS, autosomal dominant GDAP1). We studied 17 patients from 8 unrelated families. All subjects underwent neurologic evaluation and genetic testing by next-generation sequencing on an Ion Torrent PGM (Thermo Fischer) with a 44-gene custom panel. (3) Results: the following variants were found: BSCL2 c.263A > G p.Asn88Ser (eight subjects), MORC2 c.1503A > T p.Gln501His (one subject), HINT1 c.110G > C p.Arg37Pro (one subject), LITAF c.404C > G p.Pro135Arg (two subjects), GARS c.1660G > A p.Asp554Asn (three subjects), GDAP1 c.374G > A p.Arg125Gln (two subjects). (4) Expanding the spectrum of CMT phenotypes is of high relevance, especially for less common variants that have a higher risk of remaining undiagnosed. The necessity of reaching a genetic definition for most patients is great, potentially making them eligible for future experimentations.

MOSAIC+: a cross-linguistic model of verb-marking in typically developing children and children with Developmental Language Disorder

This study extends an existing cross-linguistic model of verb-marking error in children’s early multi-word speech (MOSAIC) by adding a novel mechanism that defaults to the most frequent form of the verb where this accounts for a high proportion of forms in the input. Our simulations show that the resulting dual-factor model not only provides a better explanation of the data on typically developing (TD) children, but also captures the cross-linguistic pattern of verb-marking error in children with Developmental Language Disorder (DLD), including the tendency of English-speaking children to show higher rates of Optional Infinitive (OI) errors and the tendency of Dutch-, German- and Spanish-speaking children to show higher rates of agreement errors. The new version of MOSAIC thus provides a unified cross-linguistic model of the pattern of verb-marking error in TD children and children with DLD.

Frequency of various forms of spondylodiscitis on spinal column segments

Introduction: The term spinal infections or spinal column infections usually include processes localized in various parts of spinal column, parts of vertebrae as well as in intervertebral disc. There are three main types of spondylodiscitis. Bacterial spondylodiscitis (vertebral osteomyelitis) is inflammatory process usually involving two (neighboring) vertebrae and intervertebral disc causing the space for the disc between the vertebrae to be narrowed down. The aim of this paper is to present the frequency of various forms of spondylodiscitis on spinal column segments following laboratory, microbiological and radiological diagnostic procedures.Patients and methods: Descriptive research method was used in the work, as it was deemed appropriate for this type of research analysis. Diagnostic procedures used include: laboratory tests, microbiological analysis, MRI scans of cervical spine, MRI scans of thoracic spine, MRI scans of L/S spinal column.Results: Out of 307 patients included in the research, in 109 occurrences spondylodiscitis was verified on various parts of spinal column. Brucellosis spondylodiscitis represents the most frequent form (in 86% of patients), and the majority of occurrences was localized at lumbosacral part of spinal column. During the research, quite unusually, there was also one occurrence of spondylodiscitis with paravertebral abscess on cervical part of spinal column. It is also a type of brucellosis spondylodiscitis. The use of magnetic resonance imaging appears to be gold standard in diagnostics of spondylodiscitis, especially following the application of contrast agent and the use of T1 FS (fat saturation) sequences along with standard tomograms in times T1 and T2. The majority, up to 262 (85.3%) of Elisa tests were related to brucellosis. In 245 out of 307 cases, the result was positive, that is in direct relation to the fact that various forms of brucellosis are present in the areas being examined.Conclusion: Research results indicated that spondylodiscitis was diagnosed in all segments of spinal column. The most frequent occurrences are on L/S part of spinal column and the most frequent form of brucellosis is spondylodiscitis.

A rare case of proximal short limb dwarfism-rhizomelic chondrodysplasia punctata type-2

Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare peroxisomal disorder (autosomal recessive inheritance) due to altered phytanic acid alpha oxidation and plasmalogen synthesis. RCDP 1 is the most frequent form of RCDP. It is a peroxisomal biosynthesis disorder. RCDP 2 and RCDP 3 are disorders of individual peroxisome enzyme. Authors described a case of RCDP type 2 in a 13 months old girl with characteristic features of typical chondrodysplastic facies, bilateral cataract, rhizomelic shortening of limbs, growth and global developmental delay; radiological features showed epiphyseal stippling. Genetic analysis showed apparent homozygous deletion of c.1848delC after full sequencing of her GNPAT genes.

Where Epigenetics Meets Food Intake: Their Interaction in the Development/Severity of Gout and Therapeutic Perspectives

Gout is the most frequent form of inflammatory arthritis in the world. Its prevalence is particularly elevated in specific geographical areas such as in the Oceania/Pacific region and is rising in the US, Europe, and Asia. Gout is a severe and painful disease, in which co-morbidities are responsible for a significant reduction in life expectancy. However, gout patients remain ostracized because the disease is still considered “self-inflicted”, as a result of unhealthy lifestyle and excessive food and alcohol intake. While the etiology of gout flares is clearly associated with the presence of monosodium urate (MSU) crystal deposits, several major questions remain unanswered, such as the relationships between diet, hyperuricemia and gout flares or the mechanisms by which urate induces inflammation. Recent advances have identified gene variants associated with gout incidence. Nevertheless, genetic origins of gout combined to diet-related possible uric acid overproduction account for the symptoms in only a minor portion of patients. Hence, additional factors must be at play. Here, we review the impact of epigenetic mechanisms in which nutrients (such as ω-3 polyunsaturated fatty acids) and/or dietary-derived metabolites (like urate) trigger anti/pro-inflammatory responses that may participate in gout pathogenesis and severity. We propose that simple dietary regimens may be beneficial to complement therapeutic management or contribute to the prevention of flares in gout patients.

INVESTIGATING LEXICAL BUNDLES IN THE CORPORA OF ENGLISH AND INDONESIAN RESEARCH ARTICLES WITH THE SKETCH ENGINE

The low publication rate of Indonesian researchers in reputable international journals, particularly in arts and humanities,is caused, among others, by difficulties they faced in producing precise expository texts in English, which are differentfrom texts in Indonesian. The present study examines lexical bundles in the corpora of English and Indonesian researcharticles (RA) on literature and linguistics to describe the similarities and differences of conventionalized phraseology inthe scientific genre of English and Indonesian by using corpus software, namely Sketch Engine. The study focuses onthe frequency, structural and functional characteristics of lexical bundles using a mixed-method research design. TheEnglish corpus comprises 1,351,048 words derived from 124 RA, while the Indonesian corpus consists of 637,910 wordscollected from 124 RA. We found that three-word lexical bundles are more prevalent than four-word lexical bundles inboth corpora. Based on the structural forms, prepositional-based bundles are the most frequent form in English RA, whilenoun-based bundles are the most common form in Indonesian RA. There were no participant-oriented bundles foundin the Indonesian RA corpus in terms of functional classification, whereas the English RA corpus involved more variedfunctional categories of lexical bundles. The findings provide an understanding of phraseological combinations in Englishand Indonesian scientific writing, characterizing disciplinary discourse as well as native and non-native English speakers’rhetorical style, and have pedagogical implications for EAP practitioners.

Evaluation of the frequency and patterns of thyroid dysfunction in patients with metabolic syndrome

Background Metabolic syndrome (MetS) and thyroid dysfunction have a degree of close association, and each of them affects the other. Due to the associated cardiovascular events, MetS has increased morbidity and mortality. The study tried to detect the frequency of thyroid function in patients with MetS. This is a case control study that recruited 100 patients with MetS and 100 healthy control subjects. Results Patients with MetS had significantly higher body mass index and waist circumference. Also, frequency of thyroid dysfunction was significantly higher in MetS group (32% vs. 9%; P<0.001). The most frequent form of thyroid dysfunction was subclinical hypothyroidism: 21% of the MetS group and 6% of the control group. Out of the studied patients with MetS, 13 (13%) patients had three criteria, 55 (55%) patients had four criteria, and 32 (32%) patients had five criteria for MetS. Conclusion Patients with MetS are vulnerable to develop thyroid dysfunction mainly subclinical hypothyroidism. So, it is recommended to perform regular screening for those patients as regard thyroid dysfunction.

Creating a Path for Systematic Investigation of Children With Cortical Visual Impairment Who Use Augmentative and Alternative Communication

Purpose There is limited information about how to support children with cortical visual impairment (CVI) who require augmentative and alternative communication (AAC). An initial review designed to explore the available evidence was used to outline critical needs in moving research and intervention forward for children who use AAC and have CVI. Method Previous systematic reviews, six databases, and theses and dissertations were systematically searched, along with reviews of the resulting works cited. An initial yield of 575 articles was narrowed to 10, which discussed AAC interventions that included children with CVI. Results Three interventions were technology based, and seven were instructional based. The use of textured microswitches was the most frequent form of technology intervention, with the frequency of switch activations being the most frequently coded outcome. Overall, the studies represent explorations in the area rather than systematic lines of inquiry. Conclusions While evidence shows at least some children with CVI have been included in AAC research to date, the inclusion is more incidental than deliberate. Issues such as clear descriptions of the vision capabilities and needs of participants may have impacted study results.

Giant Cell Arteritis: Real-life Experience

Giant cell arteritis (GCA), the most frequent form of vasculitis in the elderly, still poses questions regarding optimal treatment. Because of the risk of permanent vision loss, the revised European League Against Rheumatism recommendation of 2018 stresses that glucocorticoid (GC) therapy should start as soon as a diagnosis of GCA is strongly suspected.1

COGNIC - A Mobile Device Application Used for Cognitive Stimulation in Older People with Dementia

Dementia is characterized by marked cognitive impairment and is a prevalent mental illness among older people. Alzheimer’s disease is the most frequent form of dementia, affecting memory and other cognitive functions. Although there is no cure for the disease, there are treatments that can relieve cognitive symptoms and control the behavior of affected individuals. In recent years, there has been a progressive increase in the use of applications designed for smartphones and tablets for the non-pharmacological treatment of dementia. This article describes the development of an application for mobile devices with the Android® platform operating system based on guidelines established in the literature to be used by health professionals who provide care for older people with a diagnosis of mild to moderate dementia due to Alzheimer’s disease. The application was evaluated employing usability tests and questionnaires, the results of which indicated that the application met the proposed objectives, validating the guidelines established in the literature for the development of applications for this population.