Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

Erosion and deposition are natural phenomena in many estuaries that can cause morphological changes, leading to navigation and offshore structure problems. Many previous studies have focused on investigating the morphological changes of estuaries depending on different parameters and their combined effects with erosion and deposition processes, such as maximum flow amplitude, waves, currents, tidal flow, storms, rising sea elevation, maximum turbidity, salinity, and bed roughness height as input parameters. These studies are based on field measurements and numerical simulations by using topographic surveys, soil samples, satellite images, geological data, and bathymetric maps with the aid of ArcGIS. Some of these studies examine the

The investigation of machine learning techniques for addressing missing well-log data has garnered considerable interest recently, especially as the oil and gas sector pursues novel approaches to improve data interpretation and reservoir characterization. Conversely, for wells that have been in operation for several years, conventional measurement techniques frequently encounter challenges related to availability, including the lack of well-log data, cost considerations, and precision issues. This study's objective is to enhance reservoir characterization by automating well-log creation using machine-learning techniques. Among the methods are multi-resolution graph-based clustering and the similarity threshold method. By using cutti

This note reported the first record of Spotted Flycatcher Muscicapa striata (Pallas, 1764) (Passeriformes, Muscicapidae) from the state of Odisha, India. This species was recorded from the north and western part of the country as well as from the Western Ghats, but this note reports the first record from the Eastern Ghats of India.

The purpose of the study is to investigate the effect of the constructivist model of yager in acquiring the geographical concepts among first intermediate students in geography. The study was carried on based on the null hypothesis, which states, there is no significant difference at the level of (0.05) between the experimental group that follows yager model in learning the principles of geography, and the control group that studies the same subject considering the traditional methods of learning, the. To do so, a sample of (70) first-intermediate student were chosen purposefully from two random class for the academic year (2016-2017) divided into two groups. The selected schools located at Al-rusafa side in the city of Baghdad, as well

In this study lattice parameters, band structure, and optical characteristics of pure and V-doped ZnO are examined by employing (USP) and (GGA) with the assistance of First-principles calculation (FPC) derived from (DFT). The measurements are performed in the supercell geometry that were optimized. GGA+U, the geometrical structures of all models, are utilized to compute the amount of energy after optimizing all parameters in the models. The volume of the doped system grows as the content of the dopant V is increased. Pure and V-doped ZnO are investigated for band structure and energy bandgaps using the Monkhorst–Pack scheme's k-point sampling techniques in the Brillouin zone (G-A-H-K-G-M-L-H). In the presence of high V content, the ban