Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy.

BACKGROUND: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and signs, posing a diagnostic challenge. Whole-exome sequencing is vital in the diagnosis of these cases. CASE: Three unrelated cases presenting as either encephalopathy or cardiomyopathy have been diagnosed to harbor a common pathogenic variant c.370G > A in COQ4. COQ4 encodes a key structural component for stabilizing the multienzymatic CoQ biosynthesis complex. This variant is detected only among East and South Asian populations. CONCLUSIONS: Based on the population data and our case series, COQ4-related mitochondriopathy is likely an underrecognized condition. We recommend including the COQ4 c.370G > A variant as a part of the screening process for mitochondriopathy in Chinese populations.

Oligodendrogliomas in pediatric and teenage patients only rarely exhibit molecular markers and patients have excellent survivals.

Although oligodendrogliomas appear histologically similar in adult and pediatric patients, the latter have only been rarely studied and most of those studies did not have long follow-up. We examined 55 oligodendroglial tumors from pediatric and teenage patients for their biomarkers with formalin-fixed paraffin-embedded tissues and studied their survival status. None of the tumors harbored 1p/19q codeletion or IDH mutation. Mutations in TERTp (4%), BRAF (11%), FGFR1 (3%) and H3F3A (5%), fusions of BRAF (8%) and FGFR1 (8%) were found sparingly and almost all in a mutually exclusive manner. Molecular events were exclusively found in tumors with classic oligodendroglial histology. Survival analysis showed remarkably excellent prognosis compared to the adult counterparts. 5-year overall survival was 95% in our cohort with median follow-up of 8.1 years and in nine patients with follow-up more than 10 years, the 10-year overall survival was 100%. The 5-year and 10-year progression-free survivals of our cohort were 89 and 77%, respectively. FGFR1 fusion seemed to confer a poor prognosis in pediatric oligodendrogliomas. Patients receiving adjuvant chemotherapy (p = 0.046) or harboring Grade II histology (p < 0.001) had longer interval to recurrence. Our study demonstrated the distinct indolent clinical course of pediatric and teenage oligodendrogliomas compared to the adult tumors. Molecular markers commonly seen in adult oligodendrogliomas and other pediatric low-grade gliomas were only rarely seen. Since there is no clinical or molecular evidence suggesting that pediatric "oligodendrogliomas" are the same as adult oligodendrogliomas albeit histologic similarity, a case can be made for their separation from adult oligodendrogliomas in the next WHO classification.

Qualitative Evaluation of a High-Resolution 3D Multi-Sequence Intracranial Vessel Wall Protocol at 3 Tesla MRI.

BACKGROUND AND PURPOSE: Intracranial vessel wall imaging using MRI has great potential as a clinical method for assessing intracranial atherosclerosis. The purpose of the current study was to compare three 3T MRI vessel wall sequences with different contrast weightings (T1w, PD, T2w) and dedicated sagittal orientation perpendicular to the middle cerebral artery, to the reconstructed sagittal image from a transverse 3D T1w volumetric isotropically reconstructed turbo spin-echo acquisition (VIRTA), and provide a clinical recommendation. MATERIALS AND METHODS: The above-mentioned sequences were acquired in 10 consecutive Chinese ischemic stroke or TIA patients (age: 68 years, sex: 4 females) with angiographic-confirmed MCA stenosis at 3T. Institutional review board approval was obtained. Two raters qualitatively scored all images on overall image quality, presence of artifacts, and visibility of plaques. Data were compared using Repeated measures ANOVA and Sidak's adjusted post hoc tests. RESULTS: All sequences except the T2w sequence were able to depict the walls of the large vessels of the Circle of Willis (p<0.05). T1w sagittal oblique VIRTA showed significantly more artifacts (p<0.01). Peripherally located plaques were sometimes missed on the sagittal sequences, but could be appreciated on the transverse T1w VIRTA. CONCLUSION: With the 3T multi-sequence vessel wall protocol we were able to assess the intracranial plaque with two different image contrast weightings. The sequence of preference to include in a clinical protocol would be the transverse 3D T1w VIRTA based on absence of artifacts, larger coverage including the whole Circle of Willis, and excellent lesion depiction.

Brachialis periosteal avulsion injury: case report with magnetic resonance imaging findings.

Brachialis periosteal avulsion injury is an uncommon injury occurring in young children. The injury may be misinterpreted or overlooked because of misleading or subtle radiological findings. A case of 7-year-old child with post-traumatic elbow pain and subtle findings on elbow radiography is presented. The injury was initially misinterpreted as an avulsion fracture of the medial epicondyle. Following radiological review, a diagnosis of brachialis periosteal avulsion injury was made. The radiographic and magnetic resonance imaging (MRI) findings of this injury are presented to stress the value of comparing the radiographic findings with previous imaging and to increase awareness of this uncommon injury.

Computed tomography features of Stenotrophomonas maltophilia pneumonia in patients with neutropenic fever: report of two cases.

Stenotrophomonas maltophilia (S. maltophilia) is a rare yet important global emerging nosocomial pathogen with multi-drug resistance. To the best of our knowledge, there is only one case report describing the computer tomography (CT) features of S. maltophilia pneumonia. In this article we will compare the features in the published case to those found in our patients. The importance of thoracic CT in febrile neutropenic patients will also be discussed.

Analyzing risk response dynamics on the web: the case of Hurricane Katrina.

Using a unique data set that documented the hourly web-surfing behavior of over 140,000 Internet users in five southeastern states in August 2005, we explore the dynamics of information gathering as Hurricane Katrina developed and then hit South Florida and the Northern Gulf Coast. Using both elementary statistical methods and advanced techniques from functional data analysis,((1)) we examine both how storm events (such as the posting of warnings) affected traffic to weather-related websites, and how this traffic varied across locations and by characteristics of the web user. A general finding is that spatial-temporal variation in weather-site web traffic generally tracked the timing and scale of the storm threat experienced by a given area. There was, however, considerable variation in this responsiveness. Residents in Florida counties that had been most directly affected by Hurricane Dennis just a month earlier, for example, displayed more active visitation rates than those who had been less affected. We also find evidence of a gender effect where male users displayed a disproportionately larger rate of visitation to weather sites given the onset of storm warnings than females. The implications of this work for the broader study of behavioral risk response dynamics during hazards are explored.