Medicina
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Case Reports
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Background and Objectives: The pathogenic variants of SLC9A6 are a known cause of a rare, X-linked neurological disorder called Christianson syndrome (CS). The main characteristics of CS are developmental delay, intellectual disability, and neurological findings. This study investigated the genetic basis and explored the molecular changes that led to CS in two male siblings presenting with intellectual disability, epilepsy, behavioural problems, gastrointestinal dysfunction, poor height, and weight gain. ⋯ Results: Sequencing and bioinformatical analysis revealed a novel donor splice site variant (NC_000023.11(NM_001042537.1):c.899 + 1G > A) that leads to a frameshift and a premature stop codon. Protein structure modelling showed that the truncated protein is unlikely to form any functionally relevant SLC9A6 dimers. Conclusions: Molecular and bioinformatical analysis revealed the impact of a novel donor splice site variant in the SLC9A6 gene that leads to truncated and functionally disrupted protein causing the phenotype of CS in the affected individuals.
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Background and Objectives: surgery for substernal goitre is still debated in the literature, due to the wide range of surgical options. This article outlines the findings of our extensive experiences, which include 264 cases of patients with “goitre plongeant“, and compares postoperative complications, despite surgical approaches. Material and Methods: preoperative planning and anatomical landmarks are described to determine the potential need of a combined approach. ⋯ Conclusions: cervicotomy should be the gold standard technique for exploring intrathoracic goitre with a digital dissection, which, in almost all cases, enables the externalization of the mediastinal portion associated. Sternotomy is related to a higher rate of complications, so it should be performed only in selected cases. Management in large-volume centres may be more appropriate.
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Background and Objectives: Since the COVID-19 pandemic, the number of cases of post-infectious olfactory dysfunction (PIOD) has substantially increased. Despite a good recovery rate, olfactory dysfunction (OD) becomes persistent in up to 15% of cases and further research is needed to find new treatment modalities for those patients who have not improved on currently available treatments. Social media has emerged as a potential avenue for patient recruitment, but its role in recruiting patients with smell dysfunction remains unexplored. ⋯ Twenty-seven subjects (45.8%) tried other medications to improve olfaction, but only 6 participants (22.2%) reported an improvement. All subjects expressed their propensity to participate in future studies with most of them (38; 64.4%) willing to be enrolled either in medical and surgical studies or to be part of a randomised study design (11; 18.6%). Conclusions: Using the AbScent Facebook platform we successfully selected a population of subjects with persistent and severe OD that have failed to improve on available treatments and are willing to participate in further clinical trials.
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Background and Objectives: The aim of this study was to evaluate short-term continuous positive air pressure (CPAP) treatment for health-related quality of life (HRQL) in patients with obstructive sleep apnea. Materials and Methods: Our subjects were 18−65 years old, diagnosed with moderate-to-severe obstructive sleep apnea and treated with CPAP between January 2020 and June 2021 in Hospital of Lithuanian University of Health Sciences Kaunas clinics. All the patients completed the Epworth Sleepiness Scale (ESS), the 36-Item Short Form Health Survey (SF-36), the and Pittsburgh Sleep Quality Index (PSQI) before and after 3 months of treatment. ⋯ The ESS also changed significantly from a pretreatment mean score of 10.9 ± 5.7 to −5.3 ± 3.2 (p = 0.002) after 3 months. Conclusions: Improvement in HRQL is seen even after a short treatment period with CPAP. Questionnaires are a good tool to evaluate CPAP treatment efficacy.
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Background and Objectives: Flail chest typically results from major trauma to the thoracic cage and is accompanied by multiple rib fractures. It has been well documented that surgical fixation of rib fractures can decrease both morbidity and mortality rates. This study aimed to evaluate the effectiveness of a dedicated APS Rib Fixation System, which features a pre-contoured design based on anatomical rib data of the Asian population. ⋯ APS plates demonstrated fewer cases of plate fractures and screw dislocations than Mini plates (OR = 0.091, p = 0.008). Conclusions: The pre-contoured design of the APS plate demonstrated a superior rib implant failure rate as compared to the traditional Mini bone plate. Our study indicates that the APS plate may serve as an effective surgical tool for the treatment of flail chest.