A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G>T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human.     

Evaluation of the usefulness of phage amplification technology in the diagnosis of patients with paucibacillary tuberculosis

The present study was undertaken to assess the performance of the Fast Plaque TB(TM) (FPTB) test in the diagnostically difficult group of paucibacillary tuberculosis (TB) and to compare its results with the conventional bacteriological methods. The study was conducted on a total of 139 patients, who were negative for TB in sputum-smear examination. Bronchoalveolar lavage (BAL) or pleural biopsy specimens collected from these patients were subjected to smear examination, LJ culture and FPTB test. The smear, culture and the FPTB positivity rates were compared between patients with pulmonary and pleuro-pulmonary involvement. The FPTB test was found to register an overall sensitivity of 58.8% and specificity of 97.9%. The positive and negative predictive values of the test were 98.1 and 56.5, respectively. Among patients with paucibacillary TB, on head-to-head comparison, we found that the sensitivity and specificity values of the FPTB test were marginally better than smear-microscopy and inferior to culture on LJ media.     

Developmental changes in unimanual and bimanual aiming movements

The aim of this study was twofold: (a) analyze the development of reaction time (RT) and movement time (MT) for bimanual and unimanual movements and (b) investigate the interaction of age and sex on the changes in RT and MT. Participants (5-, 8-, and 11-year-olds) were asked to aim at target buttons under three conditions of movement: unimanual, bimanual symmetrical, and bimanual nonsymmetrical. As expected, RTs for bimanual symmetrical movements were shorter than RTs for unimanual and bimanual nonsymmetrical movements in the 5-year-olds. By the age of 8, bimanual nonsymmetrical movements still yielded longer RTs than unimanual and bimanual symmetrical movements, which no longer differed from each other. Regarding MT, in the 2 younger groups there was an advantage of unimanual over bimanual symmetrical movements. The latter were executed faster than nonsymmetrical movements at all ages. These results suggest that the evolution of RT and MT with age reflects development of interhemispheric transfer of information. It appears that the functional improvement of such transfer, which depends on the corpus callosum, progressively enables contralateral motor inhibition and the coordination of complex bilateral movements. The exchange of movement feedback information could mature more slowly than that of feed-forward information, explaining the extended time course of MT evolution.     

Discovery of Small Molecule Kappa Opioid Receptor Agonist and Antagonist Chemotypes through a HTS and Hit Refinement Strategy

Herein we present the outcome of a high throughput screening (HTS) campaign-based strategy for the rapid identification and optimization of selective and general chemotypes for both kappa (κ) opioid receptor (KOR) activation and inhibition. In this program, we have developed potent antagonists (IC(50) < 120 nM) or agonists of high binding affinity (K(i) < 3 nM). In contrast to many important KOR ligands, the compounds presented here are highly modular, readily synthesized and, in most cases, achiral. The four new chemotypes hold promise for further development into chemical tools for studying the KOR or as potential therapeutic lead candidates.     

Parent stress, parenting competence and family-centered support to young children with an intellectual or developmental disability

A family-centered approach to the support of families with a young child with an intellectual or developmental disability has been widely adopted in the last decade. While some of the foundational assumptions of family-centered theory have been tested, there remain considerable gaps in the research evidence for this approach. While parenting stress and competence have been examined in the general family support literature, these variables have received little attention in the family-centered support literature. This pilot study examined the relationship between parent stress and parenting competence and family-centered support. The results suggest that important components of family-centered practice are significantly associated with parent stress, but that a meaningful association between parenting competence and family-centered practice is yet to be demonstrated.     

Meningoencephalitis associated with COVID-19: a systematic review

Journal of NeuroVirology - With the growing number of COVID-19 cases in recent times. significant set of patients with extra pulmonary symptoms has been reported worldwide. Here we venture out to...     

Invasive IPMN and MCN: Same Organ, Sifferent Outcomes?

Background

The efficacy of surgery for invasive mucinous neoplasms is unclear. We examined the natural history of invasive mucinous cystic neoplasms (MCN) and invasive intraductal papillary mucinous neoplasms (IPMN) in patients who underwent pancreatic resection.

Methods

The Surveillance, Epidemiology, and End Results (SEER) database (1996–2006) was queried for cases of resected invasive MCN and IPMN. Demographics, tumor characteristics, and overall survival were examined using log-rank analysis and multivariate Cox regression model.

Results

Of 185 MCN cases and 641 IPMN cases, 73% and 48%, respectively, were women (P < 0.0001). Most (73%) IPMN were in the head of the pancreas; most (64%) MCN were in the tail/body (P < 0.0001). Lymph node metastasis was more common for IPMN than MCN (46% vs. 24%, P < 0.0001). Overall survival after resection was better for patients with stage I MCN vs. stage I IPMN (P = 0.0005), and it was better for patients with node-negative MCN vs. node-negative IPMN (P = 0.0061). There was no significant difference in survival of patients with stage IIA MCN vs. stage IIA IPMN (P = 0.5964), stage IIB MCN vs. stage IIB IPMN (P = 0.2262), or node-positive MCN vs. node-positive IPMN (P = 0.2263). Age older than 65 years (hazards ratio (HR) 1.71, P = 0.0046), high tumor grade (HR 2.68, P < 0.0001), higher T stage (HR 2.11, P < 0.0001), and IPMN histology (HR 1.90, P = 0.0040) predicted worse outcome in node-negative patients.

Conclusions

Our findings suggest that survival is better after resection of invasive MCN versus invasive IPMN when disease is localized within the pancreas, but this difference disappears in the presence of nodal metastasis or extrapancreatic extension.     

Digital atlas of the zebra finch (Taeniopygia guttata) brain: A high‐resolution photo atlas

We describe a set of new comprehensive, high‐quality, high‐resolution digital images of histological sections from the brain of male zebra finches (Taeniopygia guttata) and make them publicly available through an interactive website ( http://zebrafinch.brainarchitecture.org/ ). These images provide a basis for the production of a dimensionally accurate and detailed digital nonstereotaxic atlas. Nissl‐ and myelin‐stained brain sections are provided in the transverse, sagittal, and horizontal planes, with the transverse plane approximating the more traditional Frankfurt plane. In addition, a separate set of brain sections in this same plane is stained for tyrosine hydroxylase, revealing the distribution of catecholaminergic neurons (dopaminergic, noradrenergic, and adrenergic) in the songbird brain. For a subset of sagittal sections we also prepared a corresponding set of drawings, defining and annotating various nuclei, fields, and fiber tracts that are visible under Nissl and myelin staining. This atlas of the zebra finch brain is expected to become an important tool for birdsong research and comparative studies of brain organization and evolution. J. Comp. Neurol. 521:3702–3715, 2013. © 2013 Wiley Periodicals, Inc.     

Die Akutversorgung von Brandverletzten

Burn injuries can be caused by thermal, electrical, chemical, or mechanical trauma or radiation and are relatively rare, as they represent only about 1% of all emergencies. They are caused by accidents at home, during recreational activities, or in the occupational environment. Minor burn traumas are much more common than severe burn injuries with their systemic and potentially life-threatening effects. Altogether, these circumstances may result in a lack of routine for treating such injuries properly by physicians and their colleagues in the emergency room or intensive care unit. A clearly outlined concept for preclinical and clinical treatment can be the keystone of successful further clinical progress. The following article summarizes the current guidelines for first medical aid at the injury scene, burn stabilization and assessment in the emergency room, and the interdisciplinary approach for further clinical care. The treatment of dermatologic emergencies (acute epidermolytic syndromes) or caustic injuries by chemical agents is similar to the treatment of burn victims in many aspects but must be adapted in selected cases.