Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Background: Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in .

Investigation of and of Gene in Individuals with Late-Onset Alzheimer's Disease in Iran.

Background: We aimed to investigate two polymorphisms, and of in Alzheimer's disease (AD).

Methods: In the present case-control research, we collected blood samples from 117 AD patients and 130 controls from Alzheimer's Hospital, residents of Tehran, Iran during the winter 2020 to autumn 2022. Following extraction of DNA, Genotyping of polymorphisms and were examined by sequencing and ARMS/PCR approaches.

Using Modern Learning Method to Teach Pharmacy Students Psychopharmacotherapy.

Background: Applying modern educational methods for digital native students seems necessary. Active learning strategies promote students' skills and knowledge. This study was conducted to design and evaluate active learning methods by teaching psychopharmacotherapy to pharmacy students.

Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.

Holoprosencephaly, a complicated brain abnormality arising from incomplete prosencephalon cleavage, affects both the forebrain and the face. Holoprosencephaly Type 11, with variable expression or partial penetrance, is caused by pathogenic variants associated with the disrupted Sonic Hedgehog ()-pathway. Herein, we aimed to describe a family with genetic nose problems.

CRISPR/Cas9 Gene Knockout in Medullary Thyroid Carcinoma Cell-lines: Optimization and Validation.

Background: Medullary Thyroid Cancer (MTC) is a very aggressive type of thyroid carcinoma. Mutation in proto-oncogene is demonstrated in MTC development. We aimed to knock-out of -oncogene using CRISPR/Cas9 genome editing method in MTC cell-lines.

Promoter Methylation of Tumor Suppressors in Thyroid Carcinoma: A Systematic Review.

Background: The tumor suppressor genes play a critical role in cellular and molecular mechanisms such as cell cycle processes, cell differentiation and apoptosis. Aberrant DNA methylation of tumor suppressor genes and subsequent gene expression changes have shown to be involved in the initiation and progression of various malignancies including thyroid malignancies. In this review, we investigated what is known about the impact of promoter hypermethylation on the key tumor suppressor genes known to be involved in cell growth and/or apoptosis of thyroid cancer.

A Retrospective Study of Serum Calcium Status in Tehran, Iran (105,128 Samples, from 2009-2018).

Background: Calcium is a necessary mineral for life to keep the body and bones healthy. Various factors including hormones, diet, age, and gender affect serum calcium status. The aim of this sturdy was to assess the serum calcium level (SCL) of Tehran population, which has about 10 million multi-Ethnic populations and represents from the whole country.

The Epigenetic Modification of in Papillary Thyroid Carcinoma and its Effects on Clinic-Pathological Features.

Background: Epigenetic alterations such as DNA methylation are known as the main cause of different types of cancers through inactivation of tumor suppressor genes, especially thyroid cancer. Identification of novel and effective markers are important in diagnosis and prevention of thyroid cancer. In the present study, the expression and methylation of Solute carrier family 5 member 8 () in Papillary Thyroid Carcinoma (PTC) in comparison to multinodular goiter (MNG) have been studied.

New evidence on tumor suppressor activity of PTEN and KLLN in papillary thyroid carcinoma.

This study aimed to address the hypothesis that the expression of PTEN and KLLN tumor suppressor genes could diminish in papillary thyroid cancer (PTC) compared to paired normal tissue (PNT) and multinodular goiter (MNG). PTEN and KLLN expressions were assessed at both mRNA and protein levels in 82 tissue samples, including 30 PTC, 30 PNT, and 26 MNG using SYBR-Green Real-Time PCR and enzyme-linked immunosorbent assay (ELISA), respectively. Bioinformatics studies were performed to evaluate the genomic location and the genes promoter region.

Association of Voriconazole Trough Plasma Concentration with Efficacy and Incidence of Hepatotoxicity in Iranian Patients with Hematological Malignancies.

There are conflicting data regarding the association between plasma concentration of voriconazole (VCZ) and both efficacy and safety. This study investigates the association of VCZ trough plasma level with clinical efficacy and hepatotoxicity in the Iranian population suffering hematological malignancies. This cross-sectional study was performed on adult Iranian patients (age ≥ 18 years) with hematological malignancies undergoing treatment with oral or intravenous VCZ for proven or probable invasive Plasma concentrations of VCZ were measured at two time points on day 4 and 14 during the study period.

In-Vitro Fertilization Impact on the Risk of Breast Cancer: A Review Article.

Background: Due to the increasing prevalence of infertility, the number of referrals to infertility treatment centers has also increased. Nowadays, assisted reproductive technology (ART), including in vitro fertilization (IVF), is a treatment for infertility or genetic problems. Considering the possible consequences of this method among women undergoing in vitro fertilization (IVF) and kids conceived by IVF, extensive research has been conducted in this regard.

CRISPR Pioneers Win 2020 Nobel Prize for Chemistry.

Over the last few years, the development of genome editing has revolutionized research on the human genome. Recent advances in developing programmable nucleases, such as meganucleases, ZFNs, TALENs and Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas, has greatly expedited the progress of gene editing from concept to clinical practice. The CRISPR has advantages over other nuclease-based genome editing tools due to its high accuracy, efficiency, and strong specificity.

Clinical and Laboratory Characteristics of a Large Iranian Kindred Afflicted with Von Hippel Lindau Disease.

Background: Von Hippel Lindau (VHL) disease is a hereditary disorder characterized by the development of benign or malignant tumors in the brain, spinal cord, eyes, adrenal medulla, kidney, pancreas, and many other organs. Advances in molecular diagnosis have led to the identification of the affected members of families at earlier stages. We present the clinical, laboratory, and genetic characteristics of five generations of a large Iranian kindred with VHL.

Expression of miR-127, miR-154, and miR-183 in Medullary Thyroid Carcinoma Tumors.

Background: Medullary thyroid cancer (MTC) accounts for 5%-10% of all thyroid cancers, but causes 13% of all thyroid cancer related deaths. MicroRNAs (miRs) have key functions in the development and progression of MTC. Altered expression of some miRs has been reported in many human cancers, including Thyroid cancer.

Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 () gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form.

is Downregulated and Hyper-Methylated in Papillary Thyroid Carcinoma Suggesting Its Role as a Tumor Suppressor Gene.

Background: Thyroid cancer is the fourth most common cancer in the world. Papillary thyroid carcinoma (PTC) accounts for 80% of all types of thyroid neoplasm. Epigenetic alterations such as DNA methylation are known as the main cause of different types of cancers through inactivation of tumor suppressor genes.

A Homozygote Mutation in Gene in an Iranian Patient with Oguchi Type One: A Case Report.

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography. Clinical diagnosis is confirmed through genetic test. Two known genes in pathogenesis of Oguchi disease are and GRK1.

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

Background: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive disorder caused by defects in the ADP-Ribosylhydrolase Like 2 (ADPRHL2; OMIM: 618170) gene. This gene encodes the ADP-ribosylhydrolase enzyme (ARH3) that eliminates the addition of poly-ADP ribose (PAR) in the cellular stress onto proteins in the ADP-ribosylation process in which adding one or more ADP-ribose moieties onto the target proteins in the post-translational modification have occurred. In this study, we report a new case of CONDSIAS in the Iranian population.

Strong Evidences of the Ovarian Carcinoma Risk in Women after IVF Treatment: A Review Article.

Background: In-vitro fertilization (IVF) has been very popular since the birth of the first "test-tube" baby. This method is the last hope and the most serious solution for couples with infertility problems. Although childbearing is a concern of many couples, it must always be noted that any method can also have disadvantages.

Clinical Role of Silymarin in Oxidative Stress and Infertility: A Short Review for Pharmacy Practitioners.

Silymarin (SMN) as an ancient plant has various therapeutic usage in many diseases. Almost all of its properties attributed to antioxidant and anti-inflammatory properties. Currently, infertility problems impose a heavy burden on many developing countries.

Evaluation of Medication Package Inserts in Iran.

Objective: Package inserts (PIs) provide information for the safe and effective use of medication. There is no study on the evaluation of PIs in Iran. The purpose of this study was to evaluate the completeness of PIs supplied with the 100 top-selling medications in Iran.

Out of Pocket Payment and Affordability of Medication for Geriatric Patients in Tehran, Iran.

Background: Considering the importance of high out-of-pocket (OOP) payment (OOPP), as a marker of health system performance, and affordability of medications in the elderly, this study was conducted to determine these issues.

Methods: In this cross-sectional study, prescriptions of patients aged 65 yr or older from 5 university-affiliated pharmacies in Tehran, Iran were evaluated from Jan to Mar 2014. Prescriptions were selected from four insurance organizations.