Inherited metabolic disorders (IMDs) are a diverse group of hereditary abnormalities that leads to a defect in metabolic pathway. Its diagnosis has been transformed by the innovations of molecular genetics and computational biology. Conventionally, diagnosis of IMDs is dependent on clinical findings and biochemical tests. Yet, these methods are limited due to a heterogeneity of such disorders and a large number of genes involved. The main objective of this review is to highlight the role of next-generation sequencing (NGS), including targeted gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS), in the diagnosis of IMDs and providing reliable information in identifying genetic causes, and to explore the integrated an

  The audience is one of the important practical elements in the theatrical show and its importance is not confined to its static activity as a receiver element only, rather it went beyond that issue as an effective and influential element in the proceedings of the show and the process of meaning construction, that it gains an active role in the construction and production of the connotation that influences and is influenced by the actor, where the communication channels are open between the two sides, consequently a kind of watching and joint interaction happens between them. Thus, it has become necessary for the actor to create a suitable environment for the onlookers in order for it to be an essential part of the show system. The

In the present work, the phthalic acid (phthH2) and 1.10 phenonthroline (phen), and their complexes were synthesized and isolated as [M(phth)(phen)2], Mn(II), Fe(II), Co(II), Ni(II) Cu(II), Zn(II), and Cd(II) ions. These complexes were characterized by elemental analysis, melting point, conductivity, percentage metal, UV–Vis, FT-IR, and magnetic moment measurements. The molar conductance indicates that all the metal complexes in DMSO are nonelectrolytic. phthalic acid (phtha), and 1,10-Phenanthroline (phen), behaved as bidentate, coordinating to the metal ion through their two oxygen and two pyridinyl nitrogen atoms respectively, as corroborated by. Electronic spectra, FTIR, spectroscopy amusement indicated that all the metal complexes ad

In this work, an estimation of the key rate of measurement-device-independent quantum key distribution (MDI-QKD) protocol in free space was performed. The examined free space links included satellite-earth downlink, uplink and intersatellite link. Various attenuation effects were considered such as diffraction, atmosphere, turbulence and the efficiency of the detection system. Two cases were tested: asymptotic case with infinite number of decoy states and one-decoy state case. The estimated key rate showed the possibility of applying MDI-QKD in earth-satellite and intersatellite links, offering longer single link distance to be covered.

Background: Cholera has been recognized as a killer disease since earliest time. The disease is caused by infection of the small intestine by Vibrio cholerae O1 and O1391 which is characterized by severe dehydrating diarrheal condition and is one disease in modern times that is epidemic, endemic and pandemic in nature. Objective: This study was carried out to detect and isolate V. cholerae from patients suffered from watery diarrhea, which may cause severe complications such as dehydration, shock followed by death. Materials and methods: stool specimens were collected from 308 patients with watery diarrhea. These samples were tested with many criteria such as TCBS agar, gram stain, biochemical tests and VITEK-2 system to improve the isolati

In this work, the effect of annealing temperature on the electrical properties are studied of p-Se/ n-Si solar cell, which p-Se are deposit by DC planar magnetron sputtering technique on crystal silicon. The chamber was pumped down to 2×10−5 mbar before admitting the gas in. The gas was Ar. The sputtering pressure varied within the range of 4x10-1 - 8x10-2mbar by adjusting the pumping speed through the opening control of throttle valve. The electrical properties are included the C-V and I-V measurements. From C-V measurements, the Vbi are calculated while from I-V measurements, the efficiency of solar cell is calculated.

The Aaliji Formation in wells (BH.52, BH.90, BH.138, and BH.188) in Bai Hassan Oil Field in Low Folded Zone northern Iraq has been studied to recognize the palaeoenvironment and sequence stratigraphic development. The formation is bounded unconformably with the underlain Shiranish Formation and the overlain Jaddala Formation. The microfacies analysis and the nature of accumulation of both planktonic and benthonic foraminifera indicate the two microfacies associations; where the first one represents deep shelf environment, which is responsible for the deposition of the Planktonic Foraminiferal Lime Wackestone Microfacies and Planktonic Foraminiferal Lime Packstone Microfacies, while the second association represents the deep-sea environme

Metal complexes chrome(III), manganese(II), iron(III), cobalt(II), nickel(II), cupper(II) and zinc(II) with diazonium of 3-amino-2-chloropyridine of general formula [2-Cl-C₅H₃N≡N]_n[MX_m], where n=2 or 3 for divalent and trivalent metal, m= 4 or 6  were synthesized. The complexes have been characterized by flame atomic absorption, (C.H.N), molar conductance, magnetic susceptibility UV-vis spectra, infrared spectra,¹H-NMR spectroscopy and thermo gravimetric analysis (TGA and DTA). The measurements showed that the divalent metal ion complexes (M²⁺) have (1:2) M:L ratio with tetrahedral geometry around metal ions while the trivalent metal ions (M³⁺) formed (1:3) m