A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).

INTRODUCTION:  DExH-Box Helicase 30 (DHX30) is a gene that codes for proteins. It belongs to the class of RNA secondary structure unwinding helicases known as DExH-boxes. There have been numerous reports of pathogenic DHX30 variants. Most mutations, but not all, result in severe phenotypic abnormalities. The most common symptoms are severe motor developmental delay, intellectual disability, sleep disturbances, autism spectrum disorder, seizures, and gait abnormalities. OBJECTIVE: The objectives of reporting this case are: To report a novel mutation giving rise to NEDMIAL and to update the literature regarding the manifestation of the case of a rare condition (NEDMIAL). CASE PRESENTATION:  We report the case of a 12-year-old female who presented with similar complaints of severe motor impairment, seizures, intellectual disability, and absent language and was later diagnosed on Next-Generation Sequencing (NGS) with an autosomal dominant neurodevelopmental disorder (NEDMIAL). CONCLUSION:  We report a case of neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) with a De novo novel DHX30 mutation (p.Pro796Leu) detected by whole exome sequence. We suggest upgrading the variant classification of DHX30:p.Pro796Leu to likely pathogenic, according to the evidence found in our patient. To the best of our knowledge, this is the first reported case of this mutation and disorder in the Middle East.

Effectiveness and Safety of Laser-Assisted Removal of Inferior Vena Cava (IVC) Filters in a Single Tertiary Care Center.

INTRODUCTION: Laser sheath-assisted removal of inferior vena cava (IVC) filters with long dwelling time is a technique that utilizes laser-tipped sheaths. The laser light only penetrates vascular tissue by one hundred microns, causing the target tissues to disintegrate into particles less than 5 microns in size. This approach reduces the energy used during difficult retrieval procedures, allowing permanent filters to be removed in less fluoroscopic and procedural time overall. MATERIALS AND METHODS: The radiology information system and electronic health records were used in this retrospective cohort study to retrieve the data. A total of nine consecutive patients who underwent laser-assisted filter removal utilizing GlideLightTM were included in the study between January 2016 and January 2017. The study took place at King Abdulaziz Medical City in Riyadh. In this study, five patients were male and four were female with ages ranging from 19 to 57 years with a median age of 31. RESULTS: During the period of the study, a total of nine patients had their IVC filters removed using a laser. The success rate was 100%. The indications were trauma (n=4) followed by deep vein thrombosis (DVT) (n=3) and one patient indication was prolonged immobilization. The dwelling time ranged from seven to 70 months, with a dwelling median of 19 months. CONCLUSION: A laser sheath might be necessary for closed-cell filters in order to improve the likelihood of a successful and secure retrieval. Technical efficiency, filter type, the necessity of applying a laser sheath based on an open versus closed filter design, dwell times, and unfavorable results. As a result, after typical procedures failed to successfully retrieve IVC filters with long dwell durations, laser-assisted filter removal is thought to be practical and safe.