A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental disorder characterized by distinct dysmorphic facies, skeletal anomalies, and failure to thrive. CdLS type 5 (CdLS5) is caused by the HDAC8 gene mutations on chromosome Xq13.1 with X-linked dominant inheritance. We report our observation of an individual with CdLS5 with de novo missense mutation presenting with a novel phenotype of generalized dystonia. A four-month-old girl, second born to a non-consanguineous couple, presented with developmental delay, failure to thrive, and spastic quadriparesis. She had a history of intrauterine growth retardation in the third trimester of pregnancy. Facial gestalt was suggestive of CdLS. She had marked axial and appendicular dystonia. A skeletal survey and magnetic resonance imaging (MRI) with magnetic resonance spectroscopy (MRS) brain studies were normal. Genetic testing revealed a heterozygous missense variation c.628G>C in the HDAC8 gene. She was treated with trihexyphenidyl and clonazepam, followed by syndopa. On follow-up assessment at 22 months of age, the dystonia gradually improved but not entirely over time with medication. It is already known that single gene disorders, including SCN1A, SCN2A, KCNQ2, PRRT2, and pyridoxine deficiency, can result in isolated dystonia; we add CdLS5 (HDAC8 variation) to this expanding spectrum.

Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature.

A 3-year-old boy, firstborn to nonconsanguineous parents, presented with motor development delay and floppiness of bilateral lower limbs since birth. No significant family history presented at time of check-up. He could stand with support, eat with a spoon without spillage, and speak in two-word sentences. There was no history suggestive of cranial nerve impairment. Examination revealed normal head circumference, dry, scaly skin lesions on the trunk, distal weakness with sluggish deep tendon reflexes in bilateral lower limbs, and a high stepping gait. Nerve conduction studies revealed demyelinating polyneuropathy. Brain stem-evoked response audiometry testing revealed auditory neuropathy. Clinical exome sequencing revealed a known pathogenic variant of 3325C > T in the SH3TC2 gene suggestive of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with a novel variant of 2218C > T in the FLG gene. We have reviewed the available literature for reported associations of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris. This is probably the first reported association of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with bilateral hearing loss.

Harnessing the Flexibility of Lightweight Cellulose Nanofiber Composite Aerogels for Superior Thermal Insulation and Fire Protection.

Thermally insulating materials from renewable and readily available resources are in high demand for ecologically beneficial applications. Cellulose aerogels made from lignocellulosic waste have various advantages. However, they are fragile and breakable when bent or compressed. In addition, cellulose aerogels are flammable and weather-sensitive. Hence, to overcome these problems, this work included the preparation of polyurethane (PU)-based cellulose nanofiber (CNF) aerogels that had flexibility, flame retardancy, and thermal insulation. Methyl trimethoxysilane (MTMS) and water-soluble ammonium polyphosphate (APP) were added to improve the cross-linking, hydrophobicity, and flame-retardant properties of aerogels. The flexibility of chemically cross-linked CNF aerogels is enhanced through the incorporation of polyurethane via the wet coagulating process. The aerogels obtained during this study have exhibited low weight (density: 35.3-91.96 kg/m3) together with enhanced hydrophobic properties, flame retardancy, and decreased thermal conductivity (26.7-36.7 mW/m K at 25 °C). Additionally, the flame-retardant properties were comprehensively examined and the underlying mechanism was deduced. The aerogels prepared in this study are considered unique in the nanocellulose aerogel category due to their integrated structural and performance benefits. The invention is considered to substantially contribute to the large-scale manufacture and use of insulation in construction, automobiles, and aerospace.

Recent advances in hydrophobic nanocellulose aerogels for oil spill applications: A review.

In a rapidly growing world, petroleum is used extensively in various industries, and the extraction, processing, and transportation of petroleum generates large amounts of petroleum-containing wastewater. Conventional oil/water separation methodologies are often ineffective and costly. Nanocellulose-based aerogels (NA) have emerged as a possible solution to this problem. However, hydrophobic modification is required for effective use in oil/water separation. This review on materials commonly used in these processes and outlines the requirements for adsorbent materials and methods for creating unique lipophilic surfaces. New trends in hydrophobization methods for NA are also discussed. Additionally, it includes the development of composite nanocellulose aerogels (CNAs) and cellulose based membrane specially developed for oil/water (o/w) separation considering different separation requirements. This analysis also examines how CNAs have evolved by introducing special properties that facilitate oil collection or make the adsorbent recyclable. We also discuss the difficulties in creating effective NAs for these important applications in a changing society, as well as the difficulties in creating oil recovery equipment for oil spill cleanup.