Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy

2021 ◽  
Author(s):  
Bader H. Shirah ◽  
Nahla M. Alshaikh ◽  
Ayman Shawli ◽  
Muhammad Imran Naseer
Keyword(s):  
Joubert Syndrome ◽  
Molecular Characteristics

Electron microscopy of crystalline structure in thermotropic random copolymers

1991 ◽  
Vol 49 ◽  
pp. 1054-1055
Author(s):  
Afzana Anwer ◽  
S. Eilidh Bedford ◽  
Richard J. Spontak ◽  
Alan H. Windle
Keyword(s):  
Electron Microscopy ◽  
Crystalline Structure ◽  
Liquid Crystalline ◽  
Elevated Temperatures ◽  
Random Copolymers ◽  
Molecular Characteristics ◽  
Scanning Calorimetry ◽  
X Ray ◽  
Identical Monomer ◽  
Periodic Layer

Random copolyesters composed of wholly aromatic monomers such as p-oxybenzoate (B) and 2,6-oxynaphthoate (N) are known to exhibit liquid crystalline characteristics at elevated temperatures and over a broad composition range. Previous studies employing techniques such as X-ray diffractometry (XRD) and differential scanning calorimetry (DSC) have conclusively proven that these thermotropic copolymers can possess a significant crystalline fraction, depending on molecular characteristics and processing history, despite the fact that the copolymer chains possess random intramolecular sequencing. Consequently, the nature of the crystalline structure that develops when these materials are processed in their mesophases and subsequently annealed has recently received considerable attention. A model that has been consistent with all experimental observations involves the Non-Periodic Layer (NPL) crystallite, which occurs when identical monomer sequences enter into register between adjacent chains. The objective of this work is to employ electron microscopy to identify and characterize these crystallites.

Joubert syndrome: long-term follow-up

2004 ◽  
Vol 46 (10) ◽  
Author(s):  
Peter R Hodgkins ◽  
Christopher M Harris ◽  
Fatima S Shawkat ◽  
Dorothy A Thompson ◽  
Kling Chong ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Long Term Follow Up

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

Effects of gamma ray on some molecular characteristics of in vitro regenerated Gerbera jamesonii Bolus

1970 ◽  
Vol 39 (2) ◽  
pp. 207-214
Author(s):  
Nazma Akter ◽  
RH Sarker ◽  
MI Hoque
Keyword(s):  
Gamma Ray ◽  
Molecular Characteristics ◽  
Gerbera Jamesonii

DOI: 10.3329/bjb.v39i2.7490Bangladesh J. Bot. 39(2): 207-214, 2010 (December)

MICROCHEMICAL ANALYSIS OF HUMAN TIBIAL GROWTH CARTILAGE IN VARIOUS FORMS OF DWARFISM

1972 ◽  
Vol 69 (4) ◽  
pp. 659-688 ◽  
Author(s):  
V. Stanescu ◽  
R. Stanescu ◽  
J. A. Szirmai
Keyword(s):  
Growth Plate ◽  
Chondroitin Sulphate ◽  
Epiphyseal Plate ◽  
Molecular Characteristics ◽  
Growth Disorders ◽  
Normal Children ◽  
Collagen Concentration ◽  
Vitamin D Resistant Rickets ◽  
Pooled Samples ◽  
Tibial Epiphyseal

ABSTRACT Microchemical determinations of glycosaminoglycans and collagen were preformed in isolated histological zones from sections of tibial epiphyseal plate biopsies obtained from children with growth disorders (pituitary dwarfism, congenital myxoedema, Turner's syndrome, Noonan's syndrome, mucopolysaccharidosis type VI, vitamin D resistant rickets and achondroplasia). Alternate sections were used for histochemical localization of glycosaminoglycans and proteins. The values were compared with those found in comparable zones of the growth plate from normal children of the same age. The chondroitin sulphate concentration (% of defatted dry wt.) in the normal epiphyseal plate increased from the resting zone towards the proliferating/hypertrophic zone; collagen exhibited a reverse trend. In some of the pathological biopsies the concentration of chondroitin sulphate was slightly decreased whereas that of collagen was slightly increased. A marked increase in the collagen concentration was found in achondroplasia. The solubility profiles of the cetylpyridinium complexes of the chondroitin sulphate fraction showed three main peaks with slight but characteristic differences in the various zones of the normal cartilage plate. Significant shifts in the proportion of these peaks were observed in several pathological biopsies, indicating possible deviations from the normal molecular characteristics of the chondroitin sulphate. Analysis of the main chondroitin sulphate fraction, obtained from pooled samples of normal tibial growth plate after fractionation on the macroscale, indicated that all three peaks contained both chondroitin-4 sulphate and chondroitin-6 sulphate and that they probably differed in their molecular weight.

Comparative Study of Highly Pathogenic Avian Infl uenza Strains Isolated in Ukraine in 2005 and 2008

2014 ◽  
Vol 1 (1) ◽  
pp. 68-71
Author(s):  
A. Gerilovych ◽  
B. Stegniy ◽  
A. Stegniy ◽  
M. Stegniy ◽  
K. Smietanka ◽  
...  
Keyword(s):  
Western Europe ◽  
Rna Extraction ◽  
Experimental Studies ◽  
Molecular Characteristics ◽  
Eastern European ◽  
Highly Pathogenic ◽  
Genetic Lineages ◽  
Phylogenetic Studies ◽  
Polymerase Chain ◽  
Pathogenic H5n1

Objective. To research the molecular characteristics of two HPAI strains – A/Ch/Syvash/02/05/H5N1 and A/Ch/Krasnogvardeysk/58/08/H5N1, which were identifi ed as representatives of the highly pathogenic H5N1 viruses. Methods. RNA extraction, real-time polymerase chain reaction (PCR). Results. The phylogenetic studies revealed that the above mentioned strains belong to two various genetic lineages originated from the Eastern European strains isolated in 2005, but differ from the viruses introduced to the Central and Western Europe in 2005/2006, and also the lineages consisting of H5N1 viruses isolated in the Europe and Middle East in late 2007. Conclusions. Relying on experimental studies, it can be concluded that the strains of A/Ch/Syvash/02/05/H5N1 and A/Ch/Krasnogvardeysk/58/08/H5N1 are highly pathogenic.

Clinical Features and Hepatic Molecular Characteristics in NAFLD and NASH Patients Compared to Normal Weight Healthy Individuals

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 260-LB
Author(s):  
MALTE P. SUPPLI ◽  
KRISTOFFER RIGBOLT ◽  
SANNE VEIDAL ◽  
SARA HEEBØLL ◽  
MIA DEMANT ◽  
...  
Keyword(s):  
Clinical Features ◽  
Normal Weight ◽  
Molecular Characteristics ◽  
Healthy Individuals
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