Multi-Template Mesiotemporal Lobe Segmentation: Effects of Surface and Volume Feature Modeling.

Numerous neurological disorders are associated with atrophy of mesiotemporal lobe structures, including the hippocampus (HP), amygdala (AM), and entorhinal cortex (EC). Accurate segmentation of these structures is, therefore, necessary for understanding the disease process and patient management. Recent multiple-template segmentation algorithms have shown excellent performance in HP segmentation.

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries. These patients display 8 different in-frame or out-of-frame mutations of NCF4 that are homozygous in 11 of the families and compound heterozygous in another.

Cytoplasmic CD3 expression in infant acute megakaryoblastic leukemia: A new ambiguous lineage subtype?

Several conventions have been established in order to define and characterize Mixed Phenotype Acute Leukemia (MPAL). However, megakaryocytic markers have not been included in the definition of MPAL neither in the European Group for the Immunological Characterization of Leukemias (EGIL) proposal nor in any of the WHO Classification of Tumors issues. We report four pediatric acute leukemia (AL) cases (prevalence: 0.

Joystick of the Talus for Correcting Malalignment During Arthroscopic Ankle Arthrodesis: A Surgical Tip.

Ankle arthrodesis has been widely reported as an effective solution in treating tibiotalar joint osteoarthritis. The arthroscopic tibiotalar approach for arthrodesis has also been proven to give excellent results in terms of bone fusion rates and reduction of wound-related pain and complications. Historically, ankle malalignment has represented one of the main contraindications for the arthroscopic procedure, but interestingly some investigators have shown that the coronal joint deformity may be addressed arthroscopically as well.

High-Temperature Structural Evolution in the BaMoW NbO System and Correlation with Ionic Transport Properties.

The evolution of the hybrid structure between 9R hexagonal perovskite and palmierite in the entire BaMoW NbO solid solution (where x = 0, 0.25, 0.5, 0.

Analysis of the Pseudouridimycin Biosynthetic Pathway Provides Insights into the Formation of C-nucleoside Antibiotics.

Pseudouridimycin (PUM) is a selective nucleoside-analog inhibitor of bacterial RNA polymerase with activity against Gram-positive and Gram-negative bacteria. PUM, produced by Streptomyces sp. ID38640, consists of a formamidinylated, N-hydroxylated Gly-Gln dipeptide conjugated to 5'-aminopseudouridine.

Role of Tendoscopy in Treating Stage II Posterior Tibial Tendon Dysfunction.

Background: Stage II tibialis posterior tendon dysfunction (PTTD) resistant to conservative therapies is usually treated with invasive surgery. Posterior tibial tendoscopy is a novel technique being used in the assessment and treatment of posterior tibial pathology. The aims of this study were (1) to clarify the role of posterior tibial tendon tendoscopy in treating stage II PTTD, (2) to arthroscopically classify spring ligament lesions, and (3) to compare the arthroscopic assessment of spring ligament lesions with magnetic resonance imaging (MRI) and ultrasonographic (US) data.

Fibular Intra-articular Resection During Arthroscopic Ankle Arthrodesis: The Surgical Technique.

Ankle arthrodesis is still considered the gold standard in the treatment of advanced painful ankle osteoarthritis. More than 3 decades ago, it was performed under arthroscopy; thereafter, many authors have reported excellent results and a low complication rate. Despite the significant improvements in surgical techniques, nonunion remains a problematic and relatively frequent event.

Tendoscopy of Achilles, peroneal and tibialis posterior tendons: An evidence-based update.

Background: Tendoscopy has been proposed in treating several conditions affecting tendons around the ankle. We reviewed literature to investigate the efficacy of Achilles, peroneal and tibialis posterior tendoscopy.

Methods: Following the PRISMA checklist, the Medline, Scopus and EMBASE databases were searched, including studies reporting patients affected by disorders of Achilles, peroneal and tibialis posterior tendons and treated by tendoscopy (or tendoscopic-assisted procedures).

Topographic principles of cortical fluid-attenuated inversion recovery signal in temporal lobe epilepsy.

Objective: In drug-resistant temporal lobe epilepsy (TLE), relative to the large number of whole-brain morphological studies, neocortical T2 changes have not been systematically investigated. The aim of this study was to assess the anatomical principles that govern the distribution of neocortical T2-weighted fluid-attenuated inversion recovery (FLAIR) signal intensity and uncover its topographic principles.

Methods: Using a surface-based sampling scheme, we mapped neocortical FLAIR intensity of 61 TLE patients relative to 38 healthy controls imaged at 3 T.

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls.

Anterolateral Arthroscopic Posterior Subtalar Arthrodesis: The Surgical Technique.

The effectiveness of subtalar arthrodesis has been well documented in treating degenerative subtalar joint disease. The arthroscopic subtalar approach for arthrodesis has also been proved to give excellent results in terms of bone fusion rates and reduction of wound-related pain and complications. To date, the main concerns about arthroscopy have regarded incision-related neurologic complications such as lesions of the tibial, fibular, and sural nerves.

The ALMANACH Project: Preliminary results and potentiality from Afghanistan.

Introduction: ALMANACH (ALgorithms for the MANagement of Acute CHildhood illnesses) is an electronic version of IMCI (Integrated Management of Childhood Illness) running on tablets. ALMANACH enhances its concept, it integrates well into health staff's daily consultation work and facilitates diagnosis and treatment. ALMANACH informs when to refer a child or to perform a rapid diagnostic test (RDT), recommends the right treatment dosage and synchronizes collected data real time with a Health Management Information System (DHIS2) for epidemiological evaluation and decision making.

Histological and MRI markers of white matter damage in focal epilepsy.

Growing evidence highlights the importance of white matter in the pathogenesis of focal epilepsy. Ex vivo and post-mortem studies show pathological changes in epileptic patients in white matter myelination, axonal integrity, and cellular composition. Diffusion-weighted MRI and its analytical extensions, particularly diffusion tensor imaging (DTI), have been the most widely used technique to image the white matter in vivo for the last two decades, and have shown microstructural alterations in multiple tracts both in the vicinity and at distance from the epileptogenic focus.

The role of arthroereisis of the subtalar joint for flatfoot in children and adults.

Subtalar arthroereisis has been reported as a minimally-invasive, effective and low-risk procedure in the treatment of flatfoot mainly in children but also in adults.It has been described as a standalone or adjunctive procedure, and is indicated in the treatment of flexible flatfoot, tibialis posterior tendon dysfunction, tarsal coalition and accessory navicular syndrome.Different devices for subtalar arthroereisis are currently used throughout the world associated with soft-tissue and bone procedures, depending on the surgeon rather than on standardised or validated protocols.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

This corrects the article DOI: 10.1038/ng.3898.

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Unlabelled: In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters.

The spectrum of structural and functional network alterations in malformations of cortical development.

Neuroimaging studies of malformations of cortical development have mainly focused on the characterization of the primary lesional substrate, while whole-brain investigations remain scarce. Our purpose was to assess large-scale brain organization in prevalent cortical malformations. Based on experimental evidence suggesting that distributed effects of focal insults are modulated by stages of brain development, we postulated differential patterns of network anomalies across subtypes of malformations.

Histological fibrosis may predict the failure of core decompression in the treatment of osteonecrosis of the femoral head.

Purpose: Osteonecrosis of femoral head (ONFH) is histopathologically characterized by necrotic areas associated with reactive fibrosis, trabecular bone remodeling and thickening zones. Our double goal was to evaluate if: 1) main ONFH risk factors were related to specific histological specimen patterns 2) different histological patterns were related to the final outcome after a core decompression (CD) procedure.

Methods: This observational longitudinal cohort study respected the STROBE statement.

A meta-analysis on progressive atrophy in intractable temporal lobe epilepsy: Time is brain?

Objective: It remains unclear whether drug-resistant temporal lobe epilepsy (TLE) is associated with cumulative brain damage, with no expert consensus and no quantitative syntheses of the available evidence.

Methods: We conducted a systematic review and meta-analysis of MRI studies on progressive atrophy, searching PubMed and Ovid MEDLINE databases for cross-sectional and longitudinal quantitative MRI studies on drug-resistant TLE.

Results: We screened 2,976 records and assessed eligibility of 248 full-text articles.

Germline hypomorphic CARD11 mutations in severe atopic disease.

Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections, we found eight individuals, from four families, with novel heterozygous mutations in CARD11, which encodes a scaffolding protein involved in lymphocyte receptor signaling. Disease improved over time in most patients.

A new anterior inferior coronal patellar plica.

Purpose: To date, four synovial plicae are classically described in the knee. We report a previously undescribed new inferior patellar plica, named "bib-like plica" (BLP, referring to its morphology) related to specific symptoms of atypical recurrent anterior knee pain in the presence of a locked or pseudo-locked knee. We describe this anatomical structure, and assess its clinical relevance in daily practice in terms of clinical pattern and long-term follow-up outcome after arthroscopic excision.

Preferential susceptibility of limbic cortices to microstructural damage in temporal lobe epilepsy: A quantitative T1 mapping study.

The majority of MRI studies in temporal lobe epilepsy (TLE) have utilized morphometry to map widespread cortical alterations. Morphological markers, such as cortical thickness or grey matter density, reflect combinations of biological events largely driven by overall cortical geometry rather than intracortical tissue properties. Because of its sensitivity to intracortical myelin, quantitative measurement of longitudinal relaxation time (qT) provides and an in vivo proxy for cortical microstructure.

An original fibular shortening osteotomy technique in tibiotalar arthrodesis.

Tibiotalar arthrodesis (TTA) is the gold-standard treatment for advanced ankle osteoarthritis. We describe an original fibular shortening osteotomy (FSO) performed during TTA, to allow complete talar ascension and reduce the nonunion rate. Forty-two FSOs were associated to TTA (19 fixed by cross-screwing and 23 by anatomic plates) and assessed clinically and radiographically.