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

Abstract

The  common types of movement disorders are ; dystonia which is a syndrome  of  repetitive muscle contractions. While , Huntington disease is autosomal dominant progressive neurodegenerative disorder, which is characterized by involuntary movements (“chorea”).

Tetrabenazine therapy has been shown to effectively control this movements compared with placebo.

Design the proper dosing approach for patients treated with tetrabenazine with genotype polymorphisms and their hepatic effect on patients.

A prospective case controlled study was carried on 50 patients whom    divided into 2 groups :first group involved 25 patients who had cho

BACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of

This paper aims to improve the voltage profile using the Static Synchronous Compensator (STATCOM) in the power system in the Kurdistan Region for all weak buses. Power System Simulation studied it for Engineers (PSS\E) software version 33.0 to apply the Newton-Raphson (NR) method. All bus voltages were recorded and compared with the Kurdistan region grid index (0.95≤V ≤1.05), simulating the power system and finding the optimal size and suitable location of Static Synchronous Compensator (STATCOM)for bus voltage improvement at the weakest buses. It shows that Soran and New Koya substations are the best placement for adding STATCOM with the sizes 20 MVAR and 40 MVAR. After adding STATCOM with the sizes [20MVAR and 40MV

ABSTRACT Background: work-related musculoskeletal disorders represent an important occupational health issues among dentists especially neck and low back complaints. Biomarkers of tissue damage as results of occupational physical demands could be used for detection of work related musculoskeletal disorders. Aim: The aim of this study was to assess work- related musculoskeletal disorders, physical work load index, selected salivary biomarkers (Creatine kinase and C - reactive protein) and to find the relation among them. Subjects and Methods: Study participants are consisted of 112 dentists. They were selected from college of dentistry /Baghdad University, health care center in Bagdad city. They were of both gender and aged between 40-45 yea

AIM: The aim of this study was to measure the prevalence of myeloproliferative disorders in a sample of Iraqi patients and to measure the changes in patients’ blood parameters. BACKGROUND: Myeloproliferative disorders are a group of neoplasms affecting the bone marrow progenitor cells characterized by excess cells with a risk of transforming to acute leukemia. There is a gap in knowledge about the prevalence of Iraqi population. Thus, we investigated the prevalence and distribution of different types of myeloproliferative disorders in a sample of Iraqi patients. MATERIALS AND METHODS: Cross-sectional study is done at the National Center of Hematology from November 2019 till March 2020 on 75 patients who were diagnosed

Background. Temporomandibular dysfunction syndrome (TMD) is a common disease among dental patients. It occurs as a consequence of malfunction of the tempromandibular and/or surrounding facial muscles. LED red light therapy is not been well established, and it is important to find out the role of this technique in the treatment of temporomandibular disorders. Aim of the Study. To evaluate the efficacy of the LED red light in the treatment of the tempromandibular dysfunction syndrome. Material and Methods. Fifty students of the College of Dentistry/University of Baghdad with myofacial pain associated with Tempromandibular Disorder volunteered to participa

Background. Temporomandibular dysfunction syndrome (TMD) is a common disease among dental patients. It occurs as a consequence of malfunction of the tempromandibular and/or surrounding facial muscles. LED red light therapy is not been well established, and it is important to find out the role of this technique in the treatment of temporomandibular disorders. Aim of the Study. To evaluate the efficacy of the LED red light in the treatment of the tempromandibular dysfunction syndrome. Material and Methods. Fifty students of the College of Dentistry/University of Baghdad with myofacial pain associated with Tempromandibular Disorder volunteered to participa

Background: Oral squamous cell carcinoma (OSCC) remains a lethal and deforming disease, with a significant mortality and a rising incidence in younger and female patients. It is thus imperative to identify potential risk factors for OSCC and oral PMDs and to design an accurate data collection tool to try to identify patients at high risk of OSCC development. 14 factors consistently found to be associated with the pathogenesis of OSCC and oral PMDs. Eight of themwere identified as high risk (including tobacco, alcohol, betel quid, marijuana, genetic factors, age, diet and immunodeficiency) and 6 low risk (such as oral health, socioeconomic status, HPV, candida infection, alcoholic mouth wash and diabetes) were stratified according to severit