Editorial Board

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Society

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Table of Contents

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Focus on Children With Behavior Problems

Positive mental health in children includes achieving appropriate developmental, emotional, and social milestones and using coping skills to function successfully at home, school, and in the community. Unfortunately, approximately 13% to 20% of children in the United States have a mental health problem, and many of these problems have a direct impact on their behavior (Perou et al., 2013). It is estimated that 25% of children will have a mental health problem sometime during their childhood or adolescence.

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Child Behavioral Health: Are We There Yet?

Happy New Year! As we begin 2016, a wonderful resolution would be to provide easy access to mental and behavioral services and to offer comprehensive management for children in need of mental health care. Unfortunately, for many reasons, this goal is currently unattainable. We continue to face a shortage of appropriately prepared mental and behavioral health providers, stigma still exists in the acceptance of a diagnosis, and many other barriers obstruct the process of identifying and treating children with behavioral and mental health problems.

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Clonorchis sinensis ova in bile juice cytology from a patient with severe hyperbilirubinemia and portal vein thrombosis

Infection with the trematode Clonorchis sinensis is the most common human fluke infection in East Asian populations. Although this infection is associated with obstructive jaundice or choledocholithiasis, portal vein thrombosis has not been reported. Here, we report the first case of a 60-year-old man who had both C. sinensis infection and portal vein thrombosis with severe hyperbilirubinemia (75.4 mg/dl). He initially presented with abdominal pain and jaundice. Computed tomography revealed gallstones, common bile duct calculus, and thrombus in the left main branch of the portal vein. A nasobiliary tube was inserted under endoscopic retrograde cholangiography. Cytology of the bile juice revealed many C. sinensis eggs. The abdominal pain and jaundice improved following choledocholithotomy and combination treatment with a chemotherapeutic agent and anti-coagulant. This case suggests that inflammation around the portal vein as a result of C. sinensis infection has the potential to evoke portal vein thrombosis. Such cases should be treated with both a chemotherapeutic agent and anti-coagulant therapy. In conclusion, the possibility of infection with C. sinensis should be considered in patients presenting with hyperbilirubinemia and portal vein thrombosis, particularly in East Asian populations. Diagn. Cytopathol. 2015. © 2015 Wiley Periodicals, Inc.

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Cytodiagnosis of distant metastases from follicular thyroid carcinoma

Introduction

Follicular carcinoma of the thyroid is second most common primary malignancy of the thyroid gland after papillary carcinoma and metastasis is uncommonly seen in these patients.

Aims and objectives

To describe the cytomorphologic features for the accurate diagnosis of distant metastases from follicular carcinoma of thyroid.

Materials and methods

A total of 10 aspirates reported as metastatic follicular carcinoma of thyroid were reviewed for the available clinical and radiological details.

Results

All the patients were females. Six of these patients presented with subcutaneous and soft tissue swellings, one presented with a lung mass, one with right breast swelling, one with lumbar vertebral lesion and one with left iliac bone involvement. The cytology smears revealed tumour cells predominantly arranged in a repetitive microfollicular pattern with some scattered individually and in sheets. The tumour cells were small, had mild nuclear pleomorphism, round nuclei, low nuclear-cytoplasmic ratio, fine chromatin, inconspicuous nucleoli, and scanty to moderate amount of cytoplasm with some showing marginal vacuoles with "fire-flare" appearance. Occasional microfollicles showed scanty eosinophilic colloid in the center.

Conclusions

Identification and establishment of a correct clinical diagnosis of a distant metastasis from a follicular thyroid carcinoma is a challenging task. We believe that with prior knowledge of characteristic cytologic features, such metastases can be rapidly and accurately diagnosed by fine needle aspiration cytology. Diagn. Cytopathol. 2015. © 2015 Wiley Periodicals, Inc.

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Assessment of cytotechnologist–cytopathologist interpretative agreement using the Bethesda system for reporting thyroid cytopathology

Background

The Bethesda system for reporting thyroid cytopathology was proposed to provide a clinically relevant framework for interpretations to improve interobserver agreement. Limited data is available regarding the level of interobserver agreement between groups of cytotechnologists (CTs) and cytopathologists (CPs) examining the same thyroid fine needle aspirate (FNA) samples.

Methods

Retrospective review of 1,229 thyroid FNAs from 976 patients between 03/2010 and 08/2012 was performed. FNAs received preliminary evaluation by a CT followed by final interpretation by a CP. We calculated Cohen's Kappa coefficient to measure agreement between CTs and CPs, and analyzed levels of discrepancy using delta analysis.

Results

Overall Kappa between CTs and CPs was 0.79 (95%CI: 0.76–0.83). Kappa values were higher for the nondiagnostic (0.89), benign (0.83), and malignant (0.91) categories than for other categories. Overall Kappa did not show a trend over time, and inversely correlated with the percentage of intermediate grade lesions (coefficient of −0.8; P < 0.01). CTs overcalled more cases (n = 71) than undercalled (n = 29) (P < 0.001), as compared to CPs, with a Δ1 ratio of 2.2 and Δ2 ratio of 3.5. Most two-level discrepancies were related to follicular lesions (19/21) (P = 0.0002). Differences in sample adequacy assessment occurred in 2% of cases.

Conclusion

Overall, there was a high level of interpretative agreement between CTs and CPs, which remained stable over time, including judgments regarding specimen adequacy. Agreement was most robust for the benign and malignant categories. Our data supports the current practice of allowing CTs to perform on-site adequacy evaluation of thyroid FNAs. Diagn. Cytopathol. 2015. © 2015 Wiley Periodicals, Inc.

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Scabies and Global Control of Neglected Tropical Diseases

In 1991, Taplin et al. published a seminal study from Panama showing that mass drug administration of the then newly available permethrin cream dramatically reduced the high rates of endemic scabies in island communities. In this issue of the Journal, Romani and colleagues report the results of the…

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Effect of Atlas Vertebrae Realignment in Subjects with Migraine: An Observational Pilot Study

Introduction. In a migraine case study, headache symptoms significantly decreased with an accompanying increase in intracranial compliance index following atlas vertebrae realignment. This observational pilot study followed eleven neurologist diagnosed migraine subjects to determine if the case findings were repeatable at baseline, week four, and week eight, following a National Upper Cervical Chiropractic Association intervention. Secondary outcomes consisted of migraine-specific quality of life measures. Methods. After examination by a neurologist, volunteers signed consent forms and completed baseline migraine-specific outcomes. Presence of atlas misalignment allowed study inclusion, permitting baseline MRI data collection. Chiropractic care continued for eight weeks. Postintervention reimaging occurred at week four and week eight concomitant with migraine-specific outcomes measurement. Results. Five of eleven subjects exhibited an increase in the primary outcome, intracranial compliance; however, mean overall change showed no statistical significance. End of study mean changes in migraine-specific outcome assessments, the secondary outcome, revealed clinically significant improvement in symptoms with a decrease in headache days. Discussion. The lack of robust increase in compliance may be understood by the logarithmic and dynamic nature of intracranial hemodynamic and hydrodynamic flow, allowing individual components comprising compliance to change while overall it did not. Study results suggest that the atlas realignment intervention may be associated with a reduction in migraine frequency and marked improvement in quality of life yielding significant reduction in headache-related disability as observed in this cohort. Future study with controls is necessary, however, to confirm these findings. Clinicaltrials.gov registration number is NCT01980927.

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Extraction of Protein-Protein Interaction from Scientific Articles by Predicting Dominant Keywords

For the automatic extraction of protein-protein interaction information from scientific articles, a machine learning approach is useful. The classifier is generated from training data represented using several features to decide whether a protein pair in each sentence has an interaction. Such a specific keyword that is directly related to interaction as "bind" or "interact" plays an important role for training classifiers. We call it a dominant keyword that affects the capability of the classifier. Although it is important to identify the dominant keywords, whether a keyword is dominant depends on the context in which it occurs. Therefore, we propose a method for predicting whether a keyword is dominant for each instance. In this method, a keyword that derives imbalanced classification results is tentatively assumed to be a dominant keyword initially. Then the classifiers are separately trained from the instance with and without the assumed dominant keywords. The validity of the assumed dominant keyword is evaluated based on the classification results of the generated classifiers. The assumption is updated by the evaluation result. Repeating this process increases the prediction accuracy of the dominant keyword. Our experimental results using five corpora show the effectiveness of our proposed method with dominant keyword prediction.

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Pesticides and Health in Vegetable Production in Kenya

This paper investigates the determinants of pesticide-related cost of illness (COI) and acute symptoms, using a balanced panel of 363 farmers interviewed from seven major vegetable producing districts of Kenya. Finding shows that the incidences of pesticide-related health impairments have increased. Variation in number of symptoms and symptom severity significantly explained COI. The personal protective equipment (PPE), education level, record keeping, and geographical location considerably determined health impairments. Encouraging the proper use of PPE and record keeping of pesticide use could greatly reduce poisoning cases and COI.

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IJMS, Vol. 16, Pages 29417-29435: Exposure to Iron Oxide Nanoparticles Coated with Phospholipid-Based Polymeric Micelles Induces Biochemical and Histopathological Pulmonary Changes in Mice

The biochemical and histopathological changes induced by the exposure to iron oxide nanoparticles coated with phospholipid-based polymeric micelles (IONPs-PM) in CD-1 mice lungs were analyzed. After 2, 3, 7 and 14 days following the intravenous injection of IONPs-PM (5 and 15 mg Fe/kg bw), lactate dehydrogenase (LDH) activity, oxidative stress parameters and the expression of Bax, Bcl-2, caspase-3 and TNF-α were evaluated in lung tissue. An increase of catalase (CAT) and glutathione reductase (GR) activities on the second day followed by a decrease on the seventh day, as well as a decline of lactate dehydrogenase (LDH), superoxide dismutase (SOD) and glutathione peroxidase (GPx) activity on the third and seventh day were observed in treated groups vs. controls. However, all these enzymatic activities almost fully recovered on the 14th day. The reduced glutathione (GSH) and protein thiols levels decreased significantly in nanoparticles-treated groups and remained diminished during the entire experimental period; by contrast malondialdehyde (MDA) and protein carbonyls increased between the 3rd and 14th day of treatment vs. control. Relevant histopathological modifications were highlighted using Hematoxylin and Eosin (H&E) staining. In addition, major changes in the expression of apoptosis markers were observed in the first week, more pronounced for the higher dose. The injected IONPs-PM generated a dose-dependent decrease of the mouse lung capacity, which counteracted oxidative stress, thus creating circumstances for morphopathological lesions and oxidation processes.

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IJMS, Vol. 16, Pages 29436-29445: miR-29a Participated in Nacre Formation and Immune Response by Targeting Y2R in Pinctada martensii

miR-29a is a conserved miRNA that participates in bone formation and immune response in vertebrates. miR-29a of Pinctada martensii (Pm-miR-29a) was identified in the previous research though deep sequencing. In this report, the precise sequence of mature Pm-miR-29a was validated using miRNA rapid amplification of cDNA ends (miR-RACE) technology. The precursor sequence of Pm-miR-29a was predicted to have 87 bp. Stem loop qRT-PCR analysis showed that Pm-miR-29a was easily detected in all the tissues, although expressions in the mantle and gill were low. The microstructure showed the disrupted growth of the nacre after Pm-miR-29a over-expression, which was induced by mimic injection into P. martensii. Results of the target analysis indicated that neuropeptide Y receptor type 2 (Y2R) was the potential target of Pm-miR-29a. Meanwhile, Pm-miR-29a mimics could obviously inhibit the relative luciferase activity of the reporter containing 3′ UTR (Untranslated Regions) of the Y2R gene. Furthermore, the expression of Y2R was downregulated whereas expressions of interleukin 17 (IL-17) and nuclear factor κB (NF-κB) were upregulated after Pm-miR-29a over-expression in the mantle and gill, thereby suggesting that Pm-miR-29a could activate the immune response of the pearl oyster. Results showed that Pm-miR-29a was involved in nacre formation and immune response by regulating Y2R in pearl oyster P. martensii.

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IJMS, Vol. 16, Pages 29398-29416: Silica Nanoparticles Induce Oxidative Stress and Autophagy but Not Apoptosis in the MRC-5 Cell Line

This study evaluated the in vitro effects of 62.5 µg/mL silica nanoparticles (SiO2 NPs) on MRC-5 human lung fibroblast cells for 24, 48 and 72 h. The nanoparticles' morphology, composition, and structure were investigated using high resolution transmission electron microscopy, selected area electron diffraction and X-ray diffraction. Our study showed a decreased cell viability and the induction of cellular oxidative stress as evidenced by an increased level of reactive oxygen species (ROS), carbonyl groups, and advanced oxidation protein products after 24, 48, and 72 h, as well as a decreased concentration of glutathione (GSH) and protein sulfhydryl groups. The protein expression of Hsp27, Hsp60, and Hsp90 decreased at all time intervals, while the level of protein Hsp70 remained unchanged during the exposure. Similarly, the expression of p53, MDM2 and Bcl-2 was significantly decreased for all time intervals, while the expression of Bax, a marker for apoptosis, was insignificantly downregulated. These results correlated with the increase of pro-caspase 3 expression. The role of autophagy in cellular response to SiO2 NPs was demonstrated by a fluorescence-labeled method and by an increased level of LC3-II/LC3-I ratio. Taken together, our data suggested that SiO2 NPs induced ROS-mediated autophagy in MRC-5 cells as a possible mechanism of cell survival.

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IJMS, Vol. 16, Pages 29446-29453: New Insights to Clathrin and Adaptor Protein 2 for the Design and Development of Therapeutic Strategies

The Amyloid Precursor Protein (APP) has been extensively studied for its role as the precursor of the β-amyloid protein (Aβ) in Alzheimer's disease (AD). However, our understanding of the normal function of APP is still patchy. Emerging evidence indicates that a dysfunction in APP trafficking and degradation can be responsible for neuronal deficits and progressive degeneration in humans. We recently reported that the Y682 mutation in the 682YENPTY687 domain of APP affects its binding to specific adaptor proteins and leads to its anomalous trafficking, to defects in the autophagy machinery and to neuronal degeneration. In order to identify adaptors that influence APP function, we performed pull-down experiments followed by quantitative mass spectrometry (MS) on hippocampal tissue extracts of three month-old mice incubated with either the 682YENPTY687 peptide, its mutated form, 682GENPTY687 or its phosphorylated form, 682pYENPTY687. Our experiments resulted in the identification of two proteins involved in APP internalization and trafficking: Clathrin heavy chain (hc) and its Adaptor Protein 2 (AP-2). Overall our results consolidate and refine the importance of Y682 in APP normal functions from an animal model of premature aging and dementia. Additionally, they open the perspective to consider Clathrin hc and AP-2 as potential targets for the design and development of new therapeutic strategies.

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Cover_spine

Publication date: December 2015
Source:Cancer Genetics, Volume 208, Issue 12





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Editorial Board

Publication date: December 2015
Source:Cancer Genetics, Volume 208, Issue 12





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Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

Abstract

Spinocerebellar ataxia type 36 (SCA36) is a new SCA subtype recently reported in Japanese and Spanish pedigrees. To assess the frequency and clinical characteristics of SCA36 in patients from Mainland China, we combined the repeat-primed polymerase chain reaction method and Southern blot analysis to detect the GGCCTG hexanucleotide repeats of NOP56 in 364 probands with SCA, 126 probands with hereditary spastic paraplegia (HSP) and 99 probands with amyotrophic lateral sclerosis (ALS). Systematic and targeted clinical evaluations and investigations were conducted in the SCA36 patients. As a result, eight autosomal dominant spinocerebellar ataxia (ADCA) pedigrees (a total of 13 patients) and one sporadic SCA (S-SCA) patient were identified as SCA36 in the SCA cohort, accounting for approximately 1.60% of the cases in the ADCA group and 0.32% of those in the S-SCA group in Mainland China. The characteristics include late onset and slow progression accompanied by acoustic impairments and "possible" amyotrophic lateral sclerosis phenotype in patients from Mainland China.

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The Genetics and Pathogenesis of Thoracic Aortic Aneurysm Disorder and Dissections

Abstract

Major advances have been made over the last twenty years to better elucidate the molecular basis of aortic aneurysmal diseases. Thoracic aortic aneurysm disorder and dissections (TAADs) have a high mortality rate, and one-fifth of TAADs patients have a high familial prevalence of the disease. Clinical presentations of TAADs are different, from no symptom to aortic insufficiency that may result in sudden death. The identification of the genetic factors associated with familial TAADs is beneficial for screening and early intervention of TAADs and provides a paradigm for the study of inherited blood vessel disorders. Defects in multiple genes have been identified as causing TAADs. Many genes/alleles are associated with clinical presentations of TAADs; however, the roles of these gene defects in the pathogenesis of TAADs remain unclear. Genetic studies are now beginning to shed light on the key molecules that regulate the extracellular matrix and cytoskeleton in smooth muscle cells and transforming growth factor-beta signaling pathways involved in TAADs pathogenesis. Deciphering the molecular basis of TAADs will improve our understanding of the basic physiology of aortic function and will provide knowledge of the causative genes/alleles and typical manifestations, which will benefit clinical decision-making going forward.

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Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

Abstract

The cytoplasmic dynein-dynactin genes are attractive candidates for neurodegenerative disorders given their functional role in retrograde transport along neurons. The cytoplasmic dynein heavy chain (DYNC1H1) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (DCTN1) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia. However, the involvement of other dynactin genes with inherited peripheral neuropathies (IPN) namely, hereditary sensory neuropathy, hereditary motor neuropathy and Charcot-Marie-Tooth disease is under reported. We screened eight genes; DCTN1-6 and ACTR1A and ACTR1B in 136 IPN patients using whole exome sequencing (WES) and high resolution melt (HRM) analysis. Eight nonsynonymous variants (including one novel variant) and three synonymous variants were identified. Four variants have been reported previously in other studies, however segregation analysis within family members excluded them from causing IPN in these families. No variants of disease-significance were identified in this study suggesting the dynactin genes are unlikely to be a common cause of IPNs. However, with the ease of querying gene variants from exome data, these genes remain worthwhile candidates to assess unsolved IPN families for variants that may affect the function of the proteins.

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Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

Abstract

Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous non-progressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. A variable intra-familial phenotype and pected autosomal recessive inheritance prompted molecular diagnosis by whole-exome sequencing. Variant analysis focused on rare homozygous changes, revealed a missense variant in MYBPC1, NM_002465:c.556G>A (p.E286K), affecting the last nucleotide of exon 8. This novel variant was not observed in the common variant databases and co-segregated as expected within the extended family.

MYBPC1 encodes a slow skeletal muscle isoform, essential for muscle contraction. Heterozygous mutations in this gene are associated with distal arthrogryposis types 1b and 2, whereas a homozygous nonsense mutation is implicated in one family with lethal congenital contractural syndrome 4. We present a novel milder MYBPC1 homozygous phenotype.

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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

Abstract

The acidic fibroblast growth factor (FGF) intracellular binding protein (FIBP) interacts directly with the fibroblast growth factor FGF1. Although FIBP is known to be implicated in the FGF-signaling pathway, its precise function remains unclear. Gain-of-function variants in several FGF receptors (FGFRs) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense FIBP variant. The patient's fibroblasts exhibit FIBP cDNA degradation and an increased proliferation capacity compared with controls. The phenotype defines a new multiple congenital abnormalities (MCA) syndrome, overlapping with the heterogeneous group of overgrowth syndromes with macrocephaly. The different clinical features can be explained by the alteration of the FGFR pathway. Taken together, these results suggest the implication of FIBP in a new autosomal recessive MCA.

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Origin of mutation in sporadic cases of severe haemophilia A in Sweden

Abstract

Introduction

Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably due to mosaicism.

Aims

To define the origin of mutation in sporadic cases of HA, reveal possible sex-specific differences in mutagenesis and identify potential mosaics among non-carrier mothers.

Methods

Sanger sequencing characterized the mutations and microsatellite haplotyping determined the origin of the X chromosome carrying the mutation in 3 generations of 45 families with sporadic severe HA. Droplet digital polymerase chain reaction (ddPCR) was used in five cases to reveal mosaicism mutations not found on conventional DNA sequencing.

Results

In 23/45 families the mother carried the mutation and in 5/28 families the grandmother was also a carrier. The X chromosome was of grandpaternal origin in 17/23 cases. One of five tested mothers was a mosaic with a mutation frequency of 7%.

Conclusion

In 40/45 families the sporadic case resulted from a mutation in the last two generations. In 82% (23/28) the carrier mothers had a de novo mutation where the X chromosome was of paternal origin in 74% (17/23). ddPCR is a potentially powerful and promising analysis for mosaicism in HA.

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Assessment of PAX6 alleles in 66 families with aniridia

Abstract

We report on PAX6 alleles associated with a clinical diagnosis of classical aniridia in 81 affected individuals representing 66 families. Allelic variants expected to affect PAX6 function were identified in 61 families (76 individuals). Ten cases of sporadic aniridia (10 families) had complete (8 cases) or partial (2 cases) deletion of the PAX6 gene. Sequence changes that introduced a premature termination codon into the open reading frame of PAX6 occurred in 47 families (62 individuals). Three individuals with sporadic aniridia (3 families) had sequence changes (1 deletion, 2 run-on mutations) expected to result in a C-terminal extension. An intronic deletion of unknown functional significance was detected in one case of sporadic aniridia (1 family), but not in unaffected relatives. Within these 61 families, single nucleotide substitutions accounted for 30/61 (49%), indels for 23/61 (38%), and complete deletion of the PAX6 locus for 8/61 (13%). In five cases of sporadic aniridia (5 families), no disease-causing mutation in the coding region was detected. In total, 27 unique variants were identified that have not been reported in the LOVD database. Within the group assessed, 92% had sequence changes expected to reduce PAX6 function, confirming the primacy of PAX6 haploinsufficiency as causal for aniridia.

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Health risks for ataxia-telangiectasia mutated heterozygotes: A systematic review, Meta-analysis and evidence-based guideline

Abstract

Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder with immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. Logically, blood relatives may also carry a pathogenic ATM mutation. Female carriers of such a mutation have an increased risk of breast cancer. Other health risks for carriers are suspected, but have never been studied systematically. Consequently, evidence-based guidelines for carriers are not available yet.

We systematically analyzed all literature and found that ATM mutation carriers have a reduced life expectancy due to mortality from cancer and ischemic heart diseases (RR 1.7, 95%CI 1.2-2.4) and an increased risk of developing cancer (RR 1.5, 95%CI 0.9-2.4), in particular breast cancer (RR_women 3.0, 95%CI 2.1-4.5), and cancers of the digestive tract. Associations between ATM heterozygosity and other health risks have been suggested, but clear evidence is lacking.

Based on these results, we propose that all female carriers 40–50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer. Furthermore, all carriers should be made aware of lifestyle factors that contribute to the development of cardiovascular diseases and diabetes.

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Ethnic differences in cross-sectional associations between impaired glucose regulation, identified by oral glucose tolerance test or HbA1c values, and cardiovascular disease in a cohort of European and South Asian origin

Eastwood, SV; Tillin, T; Mayet, J; Shibata, DK; Wright, A; Heasman, J; Beauchamp, N; Eastwood, SV; Tillin, T; Mayet, J; Shibata, DK; Wright, A; Heasman, J; Beauchamp, N; Forouhi, NG; Hughes, AD; Chaturvedi, N; - view fewer (2015) Ethnic differences in cross-sectional associations between impaired glucose regulation, identified by oral glucose tolerance test or HbA1c values, and cardiovascular disease in a cohort of European and South Asian origin. Diabetic Medicine 10.1111/dme.12895 . (In press). Green open access

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What do community health workers have to say about their work, and how can this inform improved programme design? A case study with CHWs within Kenya

Oliver, M; Geniets, A; Winters, N; Rega, I; Mbae, SM; (2015) What do community health workers have to say about their work, and how can this inform improved programme design? A case study with CHWs within Kenya. Global Health Action , 8 10.3402/gha.v8.27168 . Green open access

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Growth and hormonal profiling in children with congenital melanocytic naevi

Waelchi, R; Williams, J; Cole, T; Dattani, M; Hindmarsh, P; Kennedy, H; Martinez, A; Waelchi, R; Williams, J; Cole, T; Dattani, M; Hindmarsh, P; Kennedy, H; Martinez, A; Khan, S; Semple, R; White, A; Sebire, N; Healy, E; Moore, G; Kinsler, V; - view fewer (2015) Growth and hormonal profiling in children with congenital melanocytic naevi. British Journal of Dermatology 10.1111/bjd.14091 . (In press). Green open access

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Framework and guidelines for implementing the proposed IUCN Environmental Impact Classification for Alien Taxa (EICAT)

Hawkins, CL; Bacher, S; Essl, F; Hulme, PE; Jeschke, JM; Kuehn, I; Kumschick, S; Hawkins, CL; Bacher, S; Essl, F; Hulme, PE; Jeschke, JM; Kuehn, I; Kumschick, S; Nentwig, W; Pergl, J; Pysek, P; Rabitsch, W; Richardson, DM; Vila, M; Wilson, JRU; Genovesi, P; Blackburn, TM; - view fewer (2015) Framework and guidelines for implementing the proposed IUCN Environmental Impact Classification for Alien Taxa (EICAT). Diversity and Distributions , 21 (11) pp. 1360-1363. 10.1111/ddi.12379 . Green open access

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Exploring the Feasibility of Service Integration in a Low-Income Setting: A Mixed Methods Investigation into Different Models of Reproductive Health and HIV Care in Swaziland

Church, K; Wringe, A; Lewin, S; Ploubidis, GB; Fakudze, P; Integra, Initiative; Mayhew, SH; (2015) Exploring the Feasibility of Service Integration in a Low-Income Setting: A Mixed Methods Investigation into Different Models of Reproductive Health and HIV Care in Swaziland. PLoS One , 10 (5) , Article e0126144. 10.1371/journal.pone.0126144 . Green open access

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Vertex classification for non-uniform geometry reduction.

Fernando dos Santos Fradinho Duarte de Oliveira, J.; (2008) Vertex classification for non-uniform geometry reduction. Doctoral thesis, University of London. Green open access

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Retinal pigment epithelial cells mitigate the effects of complement attack by endocytosis of C5b-9

Georgiannakis, A; Burgoyne, T; Lueck, K; Futter, C; Greenwood, J; Moss, SE; (2015) Retinal pigment epithelial cells mitigate the effects of complement attack by endocytosis of C5b-9. Journal of Immunology , 195 (7) pp. 3382-3389. 10.4049/jimmunol.1500937 . Green open access

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A Systematic Literature Review of Studies Analyzing Inequalities in Health Expectancy among the Older Population

Pongiglione, B; De Stavola, BL; Ploubidis, GB; (2015) A Systematic Literature Review of Studies Analyzing Inequalities in Health Expectancy among the Older Population. PLoS One , 10 (6) , Article e0130747. 10.1371/journal.pone.0130747 . Green open access

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Encouraging 5-year olds to attend to landmarks: a way to improve children's wayfinding strategies in a virtual environment

Lingwood, J; Blades, M; Farran, EK; Courbois, Y; Matthews, D; (2015) Encouraging 5-year olds to attend to landmarks: a way to improve children's wayfinding strategies in a virtual environment. Frontiers in Psychology , 6 p. 174. 10.3389/fpsyg.2015.00174 . Green open access

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Deaf children's non-verbal working memory is impacted by their language experience

Marshall, C; Jones, A; Denmark, T; Mason, K; Atkinson, J; Botting, N; Morgan, G; (2015) Deaf children's non-verbal working memory is impacted by their language experience. Frontiers in Psychology , 6 , Article 527. 10.3389/fpsyg.2015.00527 . Green open access

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The Good School Toolkit for reducing physical violence from school staff to primary school students: a cluster-randomised controlled trial in Uganda

Devries, KM; Knight, L; Child, JC; Mirembe, A; Nakuti, J; Jones, R; Sturgess, J; Devries, KM; Knight, L; Child, JC; Mirembe, A; Nakuti, J; Jones, R; Sturgess, J; Allen, E; Kyegombe, N; Parkes, J; Walakira, E; Elbourne, D; Watts, C; Naker, D; - view fewer (2015) The Good School Toolkit for reducing physical violence from school staff to primary school students: a cluster-randomised controlled trial in Uganda. The Lancet Global Health , 3 (7) e378-e386. 10.1016/S2214-109X(15)00060-1 . Green open access

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Case 38-2015: A 21-Year-Old Man with Fatigue and Weight Loss

Presentation of Case. Dr. Gregory L. Hundemer (Medicine): A 21-year-old man was admitted to this hospital because of fatigue, weight loss, and lesions in the lungs and liver on radiographic imaging. The patient had been in excellent health, running 3 to 5 miles daily and competing in sports, until…

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South Korea’s Thyroid-Cancer "Epidemic" — Turning the Tide

To the Editor: In 2014, we reported on the rate of thyroid-cancer diagnoses in South Korea that was 15 times as high in 2011 as the rate in 1993. This increase resulted when fee-for-service providers added thyroid screening with ultrasonography to other cancer-screening tests paid for by the…

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Squamous-Cell Carcinoma of the Nail Bed

Figure 1.

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Thyroid Nodules

Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the authors' clinical recommendations. Stage. A 40-year…

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Recruitment and retention in obesity prevention and treatment trials targeting minority or low-income children: a review of the clinical trials registration database

Background: Efforts to recruit and retain participants in clinical trials are challenging, especially in studies that include minority or low-income children. To date, no studies have systematically examined recruitment and retention strategies and their effectiveness in working successfully with this population. We examined strategies employed to recruit or retain minority or low-income children in trials that included an obesity-related behavior modification component. Methods: First, completed home-, community-, and school-based trials involving minority or low-income children aged 2–17 years were identified in a search of the ClinicalTrials.gov registry. Second, a PubMed search of identified trials was conducted to locate publications pertinent to identified trials. Recruitment and retention rates were calculated for studies that included relevant information. Results: Our final analytic sample included 43 studies. Of these, 25 studies reported recruitment or retention strategies, with the amount of information varying from a single comment to several pages; 4 published no specific information on recruitment or retention; and 14 had no publications listed in PubMed. The vast majority (92 %) of the 25 studies reported retention rates of, on average, 86 %. Retention rates were lower in studies that: targeted solely Hispanics or African Americans (vs. mixed races of African Americans, whites, and others); involved children and parents (vs. children only); focused on overweight or obese children (vs. general children), lasted ≥1 year (vs. <1 year), were home or community-based (vs. school-based), included nutrition and physical activity intervention (vs. either intervention alone), had body mass index or other anthropometrics as primary outcome measures (vs. obesity-related behavior, insulin sensitivity, etc.). Retention rates did not vary based on child age, number of intervention sessions, or sample size. Conclusions: Variable amounts of information were provided on recruitment and retention strategies in obesity-related trials involving minority or low-income children. Although reported retention rates were fairly high, a lack of reporting limited the available information. More and consistent reporting and systematic cataloging of recruitment and retention methods are needed. In addition, qualitative and quantitative studies to inform evidence-based decisions in the selection of effective recruitment and retention strategies for trials including minority or low-income children are warranted.

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The effect of iodine supplementation in pregnancy on early childhood neurodevelopment and clinical outcomes: results of an aborted randomised placebo-controlled trial

Background: Concern that mild iodine deficiency in pregnancy may adversely affect neurodevelopment of offspring has led to recommendations for iodine supplementation in the absence of evidence from randomised controlled trials. The primary objective of the study was to investigate the effect of iodine supplementation during pregnancy on childhood neurodevelopment. Secondary outcomes included pregnancy outcomes, maternal thyroid function and general health. Methods: Women with a singleton pregnancy of fewer than 20 weeks were randomly assigned to iodine (150 μg/d) or placebo from trial entry to birth. Childhood neurodevelopment was assessed at 18 months by using Bayley Scales of Infant and Toddler Development (Bayley-III). Iodine status and thyroid function were assessed at baseline and at 36 weeks' gestation. Pregnancy outcomes were collected from medical records. Results: The trial was stopped after 59 women were randomly assigned following withdrawal of support by the funding body. There were no differences in childhood neurodevelopmental scores between the iodine treated and placebo groups. The mean cognitive, language and motor scores on the Bayley-III (iodine versus placebo, respectively) were 99.4 ± 12.2 versus 101.7 ± 8.2 (mean difference (MD) −2.3, 95 % confidence interval (CI) −7.8, 3.2; P = 0.42), 97.2 ± 12.2 versus 97.9 ± 11.5 (MD −0.7, 95 % CI −7.0, 5.6; P = 0.83) and 93.9 ± 10.8 versus 92.4 ± 9.7 (MD 1.4, 95 % CI −4.0, 6.9; P = 0.61), respectively. No differences were identified between groups in any secondary outcomes. Conclusions: Iodine supplementation in pregnancy did not result in better childhood neurodevelopment in this small trial. Adequately powered randomised controlled trials are needed to provide conclusive evidence regarding the effect of iodine supplementation in pregnancy.Trials registrationThe trial was registered with the Australian New Zealand Clinical Trials Registry at http://ift.tt/17L6Qgm. The registration number of this trial is ACTRN12610000411044. The trial was registered on 21 May 2010.

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The Immune Response — Learning to Leave Well Enough Alone

The immune system in the body walks a tightrope. It must recognize millions of potential danger signals. But having devised ways to recognize danger, it must also devise ways to ensure that it does not attack targets that could result in self-harm. For the most part, it succeeds admirably;…

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Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features

The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver–Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS. We now report on a second patient with a similar phenotype and a de novo 7q32.2 microdeletion including MEST affecting the paternal allele. This confirms the central role of imprinted genes in 7q32.2 in the etiology of a growth retardation phenotype associated with SRS features. © 2015 Wiley Periodicals, Inc.

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Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study

Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. Numerous instances, however, of long-term survival of children with T13 or T18 have prompted some clinicians to pursue aggressive treatment instead of the traditional approach of palliative care. The purpose of this study is to assess current mortality data for these conditions. This multi-state, population-based study examined data obtained from birth defect surveillance programs in nine states on live-born infants delivered during 1999–2007 with T13 or T18. Information on children's vital status and selected maternal and infant risk factors were obtained using matched birth and death certificates and other data sources. The Kaplan–Meier method and Cox proportional hazards models were used to estimate age-specific survival probabilities and predictors of survival up to age five. There were 693 children with T13 and 1,113 children with T18 identified from the participating states. Among children with T13, 5-year survival was 9.7%; among children with T18, it was 12.3%. For both trisomies, gestational age was the strongest predictor of mortality. Females and children of non-Hispanic black mothers had the lowest mortality. Omphalocele and congenital heart defects were associated with an increased risk of death for children with T18 but not T13. This study found survival among children with T13 and T18 to be somewhat higher than those previously reported in the literature, consistent with recent studies reporting improved survival following more aggressive medical intervention for these children. © 2015 Wiley Periodicals, Inc.

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Phenotypes of 8q13.2–q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome

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Mass Drug Administration for Scabies Control in a Population with Endemic Disease

Scabies, a skin condition that is recognized by the World Health Organization as a disease of public health importance, is a substantial contributor to global morbidity and mortality. Scabies is caused by a microscopic mite (Sarcoptes scabiei var. hominis) and is transmitted primarily through…

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Endobronchial Valves for Emphysema without Interlobar Collateral Ventilation

Bronchoscopic lung-volume reduction with the use of one-way endobronchial valves has emerged as a potential treatment for patients with severe emphysema. This treatment was previously investigated in the randomized, controlled Endobronchial Valve for Emphysema Palliation Trial (VENT), which showed…

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Comprehensive pulmonary rehabilitation in home-based online groups: a mixed method pilot study in COPD

Background: Comprehensive multidisciplinary pulmonary rehabilitation is vital in the management of chronic obstructive pulmonary disease (COPD) and is considered for any stage of the disease. Rehabilitation programmes are often centre-based and organised in groups. However, the distance from the patient's home to the centre and lack of transportation may hinder participation. Rehabilitation at home can improve access to care for patients regardless of disease severity. We had previously studied the technology usability and acceptability of a comprehensive home rehabilitation programme designed for patients with very severe COPD receiving long-term oxygen therapy. The acceptability of such comprehensive home programmes for those with less severe COPD, who may be less homebound, is not known. The aims of this feasibility study were to assess patient acceptability of the delivery mode and components of a comprehensive pulmonary rehabilitation programme for any stage of COPD, as well as the technology usability, patient outcomes and economic aspects. Methods: Ten participants with COPD in the Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade I–IV were enrolled in a 9-week home programme and divided into two rehabilitation groups, with five patients in each group. The programme included exercise training and self-management education in online groups of patients, and individual online consultations. The patients also kept a digital health diary. To assess the acceptability of the programme, the patients were interviewed after the intervention using a semi-structured interview guide. In addition the number of sessions attended was observed. The usability of the technology was assessed using interviews and the System Usability Scale questionnaire. The St George's Respiratory Questionnaire (SGRQ) was used to measure health-related quality of life. Results: The mode of delivery and the components of the programme were well accepted by the patients. The programme provided an environment for learning from both healthcare professionals and peers, for asking questions and discussing disease-related issues and for group exercising. The patients considered that it facilitated health-enhancing behaviours and social interactions with a social group formed among the participants. Even participants who were potentially less homebound appreciated the home group and social aspects of the programme. The participants found the technology easy to learn and use. The acceptability and usability results were consistent with those in our previous study of patients with very severe COPD. Only the mean change in the SGRQ total score of −6.53 (CI 95 % −0.38 to −12.68, p = 0.04) indicates a probable clinically significant effect. Economic calculations indicated that the cost of the programme was feasible. Conclusions: The results of this study indicate that comprehensive pulmonary rehabilitation delivered in home-based online groups may be feasible in COPD. The mode of delivery and components of the programme appeared to be acceptable across patients with different disease severity. The results in terms of patient outcomes are inconclusive, and further assessment is needed.

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