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

This study aimed to prepare a program (physical-nutritional) for women with polycystic ovary, as well as to identify the effect of this program on some body measurements and the incidence of polycystic ovarian syndrome in the research sample. A total of 12 women (aged 20-25 years) with Polycystic Ovary Syndrome (PCOS) participated in the randomized controlled trial design. They were divided equally into two groups (experimental and control group). The experimental group received the physical-nutritional program accompanying the treatment program, while the control group received only the instructions of the specialist doctor and the treatment program prepared by them. The two researchers applied their nutritional progr

Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were reported all over the world. Here, I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Neuroimaging confi

This study is descriptive and theory of Dawn syndrome as the problem of research lies in the need to identify the identification of the causes of Dawn syndrome and its symptoms and methods of dealing with it, which has become a problem that needs treatment, especially after the numbers have become high in Iraq, which has not yet taken the necessary importance for treatment and care.

The objectives of the research were summarized in the identification of the most important causes of Dawn syndrome and its symptoms and diagnosis and ways or methods of dealing with people with Dawn syndrome in order to develop therapeutic plans for him.

Background: Joint hypermobility  was first mentioned by Hippocrates as an isolated feature, when he described the Celts' Incapacity to Pull a Bowstring or Throw a Dart, Due to The Slackness of Their Limbs

Objective: to determine the prevalence of mitral valve prolapse(MVP)in patients with benign hypermobility syndrome (BJHS).

Type of the study: Cross –sectional study.

Methods: Ninety patients with BJHS were included in this study. Full cardiological assessment was done for all of them,  which  include clinical examination, electrocardiography and echocardiography. Cardiac assessment was done for another sixty age and sex matched (

Background: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder affecting women of reproductive age. Oxidative stress may contribute to its pathogenesis. Paraoxonase-1 (PON1) is an antioxidant enzyme associated with high-density lipoprotein, and its genetic polymorphisms may alter enzyme activity. This study aimed to investigate the association between PON1 L55M polymorphism (rs854560) and PCOS in Iraqi women.Methods: This case-control study included 80 women aged 20–35 years who were in good general health   and matched for age and body mass index (BMI). Genomic DNA was extracted using a commercial kit. The PON1 L55M polymorphism was amplified by polymerase chain reaction and genotyped by direct sequen

Irisin is a novel myokine and adipokine, its role during pregnancy and its association with some metabolic risk factors especially pre-pregnancy body mass index (pre-BMI) need more evaluation. The aim of the study is to find whether the pre-BMI could predict irisin levels during normal pregnancy and to clarify associations of irisin with some pathological parameters.

Irisin levels were estimated by ELISA in sera of 59 normal pregnant women who enrolled from December 2016 to May 2017 at Maternity Hospital, Zakho city, Kurdistan region (Iraq). Thirty-two normal-weight pregnant (pre-BMI≤24.9 kg/m², Age=24.03 mean±3.7standard deviation) and 27 overweight/obese-pregnant (pre-BMI>25 kg/m², Age=27.6 mean±3.9

Polycystic ovary syndrome (PCOS), also known as a common polygenic endocrine condition, affects the ovaries and results in infertility and abortion. Dyslipidemia, Diabetes, hypertension, endometrial cancer, and other illnesses may all be made more likely by PCOS. Various drugs are used to treat PCOS, but they have several drawbacks and cannot effectively cure the condition. Therefore, and due to its strong antioxidant activity, anti-obesity, anti-inflammation, and other actions, the flavonoid quercetin has been proven to have health-promoting properties. The purpose of the study was to assess quercetin's impact activity in the treatment of PCOS - induced rats. A PCOS rat model was developed using testosterone.  Female albino Wistar

The multisystem inflammatory syndrome in children (MIS-C) considers a post-infectious immunological response to coronavirus illness (COVID-19) that was originally identified in the United Kingdom and later identified in other countries.  A previously healthy 3-month-old boy was admitted to hospital context with -5-day history of fever, gastrointestinal symptoms [diarrhea, vomiting of normal gastric contents], hypoactivity, and poor oral intake, but so far no history of covid-19 active disease. The infant was dehydrated, with macular non-blanching skin rash everywhere over his body and widespread non-pitting edema. With supportive measures, methylprednisolone and IV immunoglobulin, the child improved, with his fever, skin rash, and labor

Selenium is naturally present in the human body, animals, and plants, and is one of the important elements in their growth and maintenance. Recently, the nanoform of selenium has attracted attention due to its low toxicity and a high degree of adsorption compared to its organic and inorganic forms. The current study aimed to examine the effect of Cress leaves (Lepidium sativum L.) extract in combination with selenium nanoparticles in alleviating polycystic ovary syndrome in letrozole-induced PCOS in adult female rats. Nonthermal or cold plasma was used in the synthesis of selenium nanoparticles. Subsequently, the produced nanoparticles were identified, the 30 rats were divided into 6 equal groups, the first group was healthy (negative contr