117 results match your criteria: "Medical Genetic Research Center[Affiliation]"

Importance: As average life expectancy increases, the role of beauty in quality of life (QOL) becomes more important. Invasive rejuvenation methods, such as cosmetic surgery and botulinum toxin injections, do not address the underlying causes of facial aging, are expensive, and carry inherent risks. Acupuncture, as a holistic alternative, may offer a safer method for facial rejuvenation by addressing the overall health of the body.

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Mitochondria are semi-autonomous organelles present in several copies within most cells in the human body that are controlled by the precise collaboration of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) encoding mitochondrial proteins. They play important roles in numerous metabolic pathways, such as the synthesis of adenosine triphosphate (ATP), the predominant energy substrate of the cell generated through oxidative phosphorylation (OXPHOS), intracellular calcium homeostasis, metabolite biosynthesis, aging, cell cycles, and so forth. Previous studies revealed that dysfunction of these multi-functional organelles, which may arise due to mutations in either the nuclear or mitochondrial genome, leads to a diverse group of clinically and genetically heterogeneous disorders.

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A review of controversial issues about the terminology on male infertility and reproductive function, which is currently used, as well as proposals for updating clinical guidelines for the diagnosis and treatment of male infertility and men in infertile couples are presented in the article. An algorithm is described, the elements of which ensure referral of patients based on the possibility and timing of restoration of reproductive function, taking into account the reproductive health of a woman, as well as increasing the likelihood of successful treatment aimed at the birth of a healthy child.

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Multiple endocrine neoplasia type 2B (MEN 2B) is a rare variant of hereditary tumor syndromes caused by germinal mutations in the proto-oncogene RET. One of the components of the syndrome is multiple neurinomas, the early detection of  which is not always given due attention. We present a description of the case of MEN 2B, manifested in the first months of life by intestinal ganglioneuromatosis.

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Aim: To assess the relationship between plasma chitotiosidase (CHIT) level and mortality in hospitalized patients with COVID-19.

Materials And Methods: 347 hospitalized patients with COVID-19 were enrolled in our single-center cohort prospective observational study. On the first day of hospitalization the patients were assessed by the level of CHIT in the venosus blood to addition to default laboratory examinations.

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Meningioma is the most common primary tumor of the central nervous system. Traditional classification is based on histological properties of tumors and distinguishes different grades of meningioma malignancy. However, knowledge about different molecular mechanisms of tumor provided new data on genetic features of meningiomas.

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Objective: Diabetes in pregnancy is a prevalent disease that can affect the central nervous system of the fetus by hyperglycemia. This study aimed to investigate the impact of maternal diabetes on neuronal apoptosis in the superior colliculus (SC) and the lateral geniculate nucleus (LGN) in male neonates born to diabetic mothers.

Materials And Methods: In this experimental study, female adult rats were separated into three groups: control, diabetic (induced using an intraperitoneal injection of streptozotocin), and insulin-treated diabetic [diabetes controlled by subcutaneous neutral protamine hagedorn (NPH)-insulin injection].

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Maternal diabetes decreases the expression of α2-adrenergic and M2 muscarinic receptors in the visual cortex of male rat neonates.

J Chem Neuroanat

October 2023

Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Aims: This study investigates the impact of maternal diabetes on the expression of α2-adrenergic and M2 muscarinic receptors in the primary visual cortex of male offspring born to diabetic rats.

Main Methods: In adult female rats, a single dose of intraperitoneal streptozotocin (STZ) was used to induce diabetes (Diabetic group). Diabetes was controlled with insulin in the Insulin-treated group.

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Objectives: Diabetes during gestation is one of the most common pregnancy complications and has adverse effects on offspring, including a negative impact on the offspring's central nervous system (CNS). Diabetes is a metabolic disease associated with visual impairment. Due to the importance of the lateral geniculate body (LGB) in the visual pathway, the present study examined the effect of maternal diabetes on the expression of gamma-aminobutyric acid (GABA and GABA) and metabotropic Glutamate (mGlu2) receptors in the LGB of male neonates of diabetic rats.

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Neurotransmitters and their receptors are key molecules in information transfer between neurons, thus enabling inter-areal communication. Therefore, multimodal atlases integrating the brain's cyto- and receptor architecture constitute crucial tools to understand the relationship between its structural and functional segregation. Cholinergic muscarinic M receptors have been shown to be an evolutionarily conserved molecular marker of primary sensory areas in the mammalian brain.

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Maternal diabetes decreases the expression of GABA, GABA and mGlu2 receptors in the visual cortex of male rat neonates.

Neurosci Lett

July 2023

Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Aims: This study examines the impact of maternal diabetes on the expression of GABA, GABA, and mGlu2 receptors in the primary visual cortex layers of male rat newborns.

Main Methods: In diabetic group (Dia), diabetes was induced in adult female rats using an intraperitoneal dose of Streptozotocin (STZ) 65 (mg/kg). Diabetes was managed by daily subcutaneous injection of NPH insulin in insulin-treated diabetic group (Ins).

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Objectives: Few studies have examined the molecular alterations in the auditory pathway of infants of diabetic mothers, notwithstanding the fact that maternal diabetes may have an impact on the development of the neonatal peripheral and central nervous systems. Male newborn rats were studied to determine how maternal diabetes affected the expression of gamma-aminobutyric acid (GABA and GABA) and metabotropic glutamate (mGlu2) receptors in the inferior colliculus (IC) in this research.

Methods: Female rats were given a single intraperitoneal injection of streptozotocin (STZ) at a 65 mg/kg dose to develop a model of diabetic mothers.

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Background And Aim: Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disease (LSD) caused by a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs), mainly in the central nervous system. Trehalose has been proposed as a potential therapeutic agent to attenuate neuropathology in MPS III. We conducted a single- arm, open-label study to evaluate the efficacy of trehalose treatment in patients with MPS IIIA and MPS IIIB.

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The distribution pattern of M2 and Adrenergic receptors on inferior colliculi in male newborns of diabetic rats.

Neurosci Lett

September 2022

Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Aims: Despite the high prevalence of diabetes in the world, its possible effects throughut pregnancy on neonatal auditory nervous system development are still unknown. In the present research, maternal diabetes' impact on the M2 and Adrenergic receptors expression in the inferior colliculus (IC) of male newborn rats was investigated.

Main Methods: Female rats were grouped into three: sham, insulin-treated diabetic, and diabetic.

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The article presents the results of analysis of specialized medical care of children with life threatening and chronic progressive rare (orphan) diseases resulting in life span shortening or disability. The possibility of medication support of children with rare diseases. The development of patient routing system considering characteristics of particular disease and possibilities of the subjects of the Russian Federation is one of most important directions of enhancement of needed medical care support.

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Article Synopsis
  • Niemann-Pick disease types A and B are caused by a deficiency in the acid sphingomyelinase enzyme, leading to lipid accumulation in tissues, and trehalose is being investigated for its potential therapeutic effects.
  • A clinical trial involved five patients receiving intravenous trehalose (15 g/week) for three months, evaluating changes in quality of life, serum biomarkers, and lung imaging.
  • Preliminary results showed improvements in quality of life and serum biomarker levels, along with imaging enhancements in some patients, although these changes were not statistically significant due to the small sample size.
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Cytogenetic Studies of 608 Couples with Recurrent Spontaneous Abortions in Northeastern Iran.

Iran J Pathol

July 2021

Department of Hematology and Blood Bank, Faculty of Medicine, Cancer Molecular Pathology Research Center, Ghaem Medical Center Mashhad University of Medical Sciences, Mashhad, Iran.

Background & Objective: One of the major genetic causes of recurrent spontaneous abortions is parental chromosomal abnormalities. The objectives of the study were to determine, compare and analyze the incidence and distribution of chromosomal abnormalities in couples with recurrent miscarriages from Northeastern Iran.

Methods: This study was conducted at Ghaem Hospital, Mashhad, Iran.

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Developmental regulation and lateralization of N-methyl-d-aspartate (NMDA) receptors in the rat hippocampus.

Neuropeptides

October 2021

Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

N-methyl-d-aspartate receptors (NMDARs) are expressed abundantly in the brain and play a crucial role in the regulation of central nervous system (CNS) development, learning, and memory. During early neuronal development, NMDARs modulate neurogenesis, neuronal differentiation and migration, and synaptogenesis. The present study aimed to examine the developmental expression of NMDARs subunits, NR1 and NR2B, in the developing hippocampus of neonatal rats during the first two postnatal weeks.

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Objectives: Dermatopontin (DPT) is an extracellular matrix protein that plays roles in increasing the activity of transforming growth factor-β (TGF-β) and induction of cell quiescence. These roles suggest a tumor suppressor function for DPT. This study aimed to investigate changes in DPT gene expression in colorectal cancer providing a better understanding of its carcinogenesis.

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Background: Congenital hyperinsulinism (CHI) is a heterogeneous disease with various underlying genetic causes. Among different genes considered effective in the development of CHI, , and genes are among the important genes, especially in a population with a considerable rate of consanguineous marriage. Mutational analysis of these genes guides clinicians to better treatment and prediction of prognosis for this rare disease.

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Background: Menopause is the natural termination of menstruation which affects the quality and important aspects of women's life.

Objective: To evaluate the effect of regular resistance training (Ex) with vitamin D (Vit. D) and calcium (Ca) supplements in the postmenopausal period on muscle tissue in rats.

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The article is devoted to the differential diagnosis of chylous pleural effusion. The spectrum of traumatic and non-traumatic causes of chylothorax is discussed in detail. Examples of necessary diagnostic measures are given for the accumulation of milky fluid in the pleural cavity in order to verify chylothorax.

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Unlabelled: Metabolic syndrome (MS) is a complex of interrelated metabolic disorders leading to the development of abdominal obesity, hyperglycemia, insulin resistance, and dyslipidemia. To develop new methods for the prevention and treatment of MS, it seems appropriate to simulate this disease using a high-calorie diet that induces many of its symptoms. As a therapeutic and prophylactic agent, it is promising to use low-intensity electromagnetic radiation (EMR) of ultra-high frequency (UHF), which can have a stimulating effect on metabolic and regenerative processes and strengthen the mechanisms of their regulation.

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Background & Objective: Primary amenorrhea refers to the absence of menstruation in females of reproductive by age 16 when the development of secondary sexual characteristics is evident (breast development, pubic hair) or by age 14 when there are no secondary sexual characteristics are present. Primary amenorrhea can occur in several quite different reasons. Common hormonal causes of primary amenorrhea include constitutional delay, hypothalamic or pituitary disorders, chronic systemic disease, and primary ovarian insufficiency, some endocrine gland disorders, and other causes.

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The study was carried out to analyze detection of rare diseases that are not included into listings of rare (orphan) diseases to be treated at the expense of budget resources of the Russian Federation Russian Federation (hereinafter referred as rare diseases out of reimbursement). The analysis of detection of patients with rare diseases out of reimbursement in Russian Federation was carried out. The information was collected and summarized on the basis of open sources by the way of formalized personal request to the heads of patient and public organizations providing care of patients with rare diseases out of reimbursement.

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