Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental disorders (NDD), corroborating the concept of the NDD continuum. There is a lack of studies to understand the whole genetic spectrum in individuals with DLD. Previously, we recruited 61 probands with severe DLD from 59 families and examined 59 of them and their families using microarray genotyping with a 6.8% diagnostic yield. Herein, we investigated 53 of those probands using whole exome sequencing (WES). Additionally, we used polygenic risk scores (PRS) to understand the within family enrichment of neurodevelopmental difficulties and examine the associations between the results of language-related tests in the probands and language-related PRS. We identified clinically significant variants in four probands, resulting in a 7.5% (4/53) molecular diagnostic yield. Those variants were in PAK2, MED13, PLCB4, and TNRC6B. We also prioritized additional variants for future studies for their role in DLD, including high-impact variants in PARD3 and DIP2C. PRS did not explain the aggregation of neurodevelopmental difficulties in these families. We did not detect significant associations between the language-related tests and language-related PRS. Our results support using WES as the first-tier genetic test for DLD as it can identify monogenic DLD forms. Large-scale sequencing studies for DLD are needed to identify new genes and investigate the polygenic contribution to the condition.

Evaluation of Acute Outcomes and Factors Influencing the Care of Chest Trauma in a District General Hospital in the United Kingdom.

Background The rate of chest trauma admissions under the Queen Hospital Burton Orthopedic team has been steadily increasing, surpassing other hospital trusts. Patients are managed locally by the Orthopedic department, unlike in major trauma centres. Understanding the management outcomes and patient factors in this setting is crucial for enhancing patient safety. Methodology A retrospective analysis of 139 patients with chest trauma referred to the QHB Orthopedic team from October 2017 to May 2021 was conducted using the Meditech-V6 electronic medical records system (Meditech, Westwood, US). This study aims to evaluate the outcomes of patients admitted with chest trauma and improve current practices. The objectives include assessing patient factors influencing outcomes, initiating discussions with a major trauma centre, and enhancing the quality of care for chest trauma patients. Results The mechanism of injury in all cases of chest injuries was blunt trauma, accounting for 100% of the cases. The specific mechanisms of injury observed in the study included falls from standing, falls from height, road traffic collisions, and assault. The study comprised 139 individuals, 128 of whom were diagnosed with rib fractures, and 11 who did not have any rib fractures. In addition, two patients were hospitalized with bilateral rib fractures, both of which were life-threatening. Tragically, one of these cases resulted in the death of the patient. With regard to outcomes, 67% of the patients received a consultation at Royal Stoke Hospital (RSH). Eight individuals were transferred to RSH for further management, while the remaining 131 patients were not transferred. Eighty-seven individuals were discharged from the hospital, indicating successful recovery and readiness for discharge. However, it is noteworthy that nine patients experienced complications during their hospital stay, highlighting the potential challenges and risks associated with chest trauma management. Tragically, seven patients succumbed to their injuries and passed away.  Conclusions The majority of patients in this study were aged 65 and over and presented with multiple comorbidities, indicating the complex medical profile of this population. However, despite the presence of life-threatening injuries and the associated risks, only a minority of patients in the study were transferred to a designated trauma centre. This raises concerns about the adequacy of the current transfer protocols and the potential impact on patient outcomes.

Systematic Review of Current Approaches to Tibia Plateau: Best Clinical Evidence.

If not treated adequately, tibia plateau fractures result in premature osteoarthritis and lifelong disability. The advent of newer implants and techniques to improve outcomes has necessitated the development of different surgical approaches. A Medline and EMBASE search (June 2020) was conducted to identify publications during the last 10 years that focused on surgical approaches for proximal tibia fractures/ tibia plateau management. A total of 2107123 and 2715399 articles were found related to fractures in this area with 133 and 103 review articles looking at the approach on MEDLINE and EMBASE, respectively. This article reviews the continued development of the surgical approaches to aid understanding for surgeons and identify areas for future research to help improve outcomes. Although the anterolateral approach is the most commonly applied surgical technique, having the knowledge of newer approaches (medial, posteromedial, posterolateral, or direct posterior) in the armamentarium is necessary to treat the vast array of fracture patterns. There has been a shift amongst trauma surgeons of using a combination of approaches for complex tibia plateau fractures.

Machine learning detects EEG microstate alterations in patients living with temporal lobe epilepsy.

PURPOSE: Quasi-stable electrical distribution in EEG called microstates could carry useful information on the dynamics of large scale brain networks. Using machine learning techniques we explored if abnormalities in microstates can identify patients with Temporal Lobe Epilepsy (TLE) in the absence of an interictal discharge (IED). METHOD: 4 Classes of microstates were computed from 2 min artefact free EEG epochs in 42 subjects (21 TLE and 21 controls). The percentage of time coverage, frequency of occurrence and duration for each of these microstates were computed and redundancy reduced using feature selection methods. Subsequently, Fishers Linear Discriminant Analysis (FLDA) and logistic regression were used for classification. RESULT: FLDA distinguished TLE with 76.1% accuracy (85.0% sensitivity, 66.6% specificity) considering frequency of occurrence and percentage of time coverage of microstate C as features. CONCLUSION: Microstate alterations are present in patients with TLE. This feature might be useful in the diagnosis of epilepsy even in the absence of an IED.

A rapidly expanding massive lipoma of the toe.

Lipoma is one of the most common benign soft tissue tumors. The most common location of lipomas is in areas of abundant adipose tissue. Reports of a lipoma in the foot exist, but toe lipomas are rare. The case presented is one of a large, expanding lipoma engulfing the lateral aspect of the third toe and the whole of the third web space. It measured 10 cm in diameter. This was successfully removed surgically. To the best of our knowledge, the size of this lipoma is probably one of the largest ever reported in the toes of an adult.