Dietary Guidelines for Vitamin D : A vitamin D intake requirement of 14 µg/day would maintain 97.5% of 25(OH)D >50 nmol/L.

http://alexandrossfa.blogspot.com/2017/05/dietary-guidelines-for-vitamin-d.html

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Endocrine Emergencies : 1. THYROID STORM, 2. MYXEDEMA COMA, 3. DIABETIC KETOACIDOSIS, 4. ACUTE ADRENAL CRISIS

http://alexandrossfa.blogspot.com/2017/05/endocrine-emergencies-1-thyroid-storm-2.html

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Hypersensitivity pneumonitis (HP) : Dyspnea and cough

http://alexandrossfa.blogspot.com/2017/05/hypersensitivity-pneumonitis-hp-dyspnea.html

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Comparative transcriptomics in human and mouse

Next-generation sequencing technologies have enabled the comprehensive characterization of human and mouse genomes, including at the transcriptional level. This article reviews the degree of conservation of human and mouse transcriptomes, along with the challenges of identifying when the mouse is a suitable model of human physiology.

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Genetic testing: The diagnostic power of RNA-seq

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Genome organization: In the beginning there was order

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The X chromosome in space

Three-dimensional genome organization can shape gene expression by facilitating interactions between regulatory elements. The authors review the process of X-chromosome inactivation with a focus on chromatin organization and subnuclear localization of the active and inactive X chromosomes, as well as the potential roles of long non-coding RNAs.

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The origin of Metazoa: a unicellular perspective

Multicellular organisms rely on a complex interplay between diverse cell types, but how multicellularity evolved from unicellular ancestors has long been a debated research question. In this Review, the authors describe how comparative and functional genomics have provided valuable insights into the transition between unicellularity and multicellularity, including how various molecular networks have been adopted for multicellular life.

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Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome. We describe the evolution of her clinical features with age, and review published clinical data of patients with POGZ mutations to systematically analyze the clinical spectrum associated with mutations. Our finding expands the clinical and molecular spectrum of POGZ mutations. Revision of the literature indicate that moderate to severe ID, microcephaly, variable CNS malformations, reduced growth, brachytelephalangy, and facial dysmorphism represent recurrent features associated with POGZ mutations.

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Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency

Trisomy 13 (T13) is a congenital chromosomal disorder that is usually fatal within 2 years of birth, and only a few patients have been reported to reach adolescence. Here, we report a male long-term survivor of T13, currently 15 years of age, with a several-year history of extensive acne conglobata (AC) with abscesses on the face and neck. Methicillin-resistant Staphylococcus aureus was consistently isolated from the pustular lesions. Serum IgM levels were extremely low at 10 mg/dl. There were no abnormalities in neutrophil and total B cell number, or in serum IgA and IgG levels. Increased CD8+ T cell counts and inversion of the CD4/CD8 ratio were observed repeatedly. The patient's clinical features and laboratory data support a diagnosis of selective IgM deficiency (SIgMD) with concurrent AC. Immunoglobulin replacement therapy elevated serum IgM levels to the normal range and reduced the severity of AC. We suggest that T13 may represent a syndromic disorder associated with multiple organ malformation and a risk of developing immunodeficiency involving SIgMD. Because pediatric SIgMD is rare and an immunological abnormality in T13 patients has not previously been reported, we describe the patient's clinical course.

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Paroxysmal theta power reactivity is related to survival in anoxic vegetative state patients

Disorders of consciousness (DOC) due to severe acute brain injuries (e.g., anoxic encephalopathy) are defined by loss of consciousness and absence of reactivity to external stimuli. DOC patients are often classified as being in a state of coma, a vegetative state (VS) or a minimally consciousness state (MCS) (Schorr et al., 2015). A shift in awareness from VS to MCS includes clinically-defined behaviors such as visual fixation, directed reaction to stimuli, and congruent emotional responses. However, these cognitively mediated behaviors appear inconsistently, making it difficult to reliably identify them as non-reflexive behaviors (Fingelkurts et al., 2011).

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Enhanced air dispersion modelling at a typical Chinese nuclear power plant site: Coupling RIMPUFF with two advanced diagnostic wind models

Publication date: September 2017
Source:Journal of Environmental Radioactivity, Volumes 175–176
Author(s): Yun Liu, Hong Li, Sida Sun, Sheng Fang
An enhanced air dispersion modelling scheme is proposed to cope with the building layout and complex terrain of a typical Chinese nuclear power plant (NPP) site. In this modelling, the California Meteorological Model (CALMET) and the Stationary Wind Fit and Turbulence (SWIFT) are coupled with the Risø Mesoscale PUFF model (RIMPUFF) for refined wind field calculation. The near-field diffusion coefficient correction scheme of the Atmospheric Relative Concentrations in the Building Wakes Computer Code (ARCON96) is adopted to characterize dispersion in building arrays. The proposed method is evaluated by a wind tunnel experiment that replicates the typical Chinese NPP site. For both wind speed/direction and air concentration, the enhanced modelling predictions agree well with the observations. The fraction of the predictions within a factor of 2 and 5 of observations exceeds 55% and 82% respectively in the building area and the complex terrain area. This demonstrates the feasibility of the new enhanced modelling for typical Chinese NPP sites.



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