amin safa

Cardiac abnormalities are common complications in Transfusion Dependent Thalassemia (TDT).
This study aimed to assess functional and structural cardiac abnormalities in TDT patients in Zabol, Sistan and Baluchistan province in south-east of Iran.
Patients and This cross-sectional study was conducted on 85 TDT patients selected via simple random sampling. Demographic information was obtained using a questionnaire. Additionally, clinical and laboratory data were extracted from medical records. Cardiac assessment was conducted by standard Doppler echocardiography. After all, the data was statistically analyzed using the SPSS statistical software, version 19.
In this study, 54 participants (63.5%) were female and 31 ones (36.5%) were male. The participants’ mean age was 19.2 ± 6.1 years. In addition, 58 patients (68.2%) had at least one cardiac abnormality. The mean of Left Ventricular Ejection Fraction (LVEF) was 60.3 ± 8.5% (range: 40 - 80%). The most common cardiac conditions were Tricuspid Regurgitation (TR) (58.8%), Left Ventricular Diastolic Dysfunction (LVDD) (43.5%), Pulmonary valve Insufficiency (PI) (35.3%), and Mitral Regurgitation (MR) (32.9%). Moreover, Left Ventricular Systolic Dysfunction (LVSD), Aortic Insufficiency (AI), and pericard effusion were detected in 6 (7.1%), 2 (2.4%), and 2 patients (2.4%), respectively. The results revealed a significant association between LVDD and splenomegaly, splenectomy, hepatomegaly, chelation therapy, and anti-HCV positivity. Indeed, anti-HCV positivity was significantly associated with MR and lower LVEF. Patients with positive anti-HCV results presented a higher risk of cardiac dysfunction (OR = 4.1, 95% CI: 0.8 - 19.8, P = 0.022) and LVEF The results indicated anti-HCV positivity as a significant risk factor for heart dysfunction in TDT patients. Thus, cardiac functionality is recommended to be assessed regularly in TDT patients.

Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are Phosphopenic and Calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is the X-linked dominant hypophosphatemic rickets (HR) caused by a mutation in PHEX gene. The FGF23, DMP1, and PHEX are among the most important genes in the etiology of HR disorder. The interaction of these genes is essential for proper bone mineralization. However, the underlying mechanism is not comprehensively known. For data collection, we searched the most recent articles in Science Direct, PubMed and Google Scholar using Hypophosphatemia, Mutation, PHEX and FGF23 as keywords. The search results revealed that most of the articles have mainly focused on various types of mutations causing hypophosphatemia in different populations. However, there was a lack of enough studies elucidating the interaction of genes involved in this disorder. This review mainly focuses on the various types of phosphopenic rickets and genetic mutations of various agents crucial for bone mineralization and how these mutations exert their effects on biochemical agents like vitamin D and PTH. It also reviews the available treatment and molecular techniques for managing this disorder.

Multiple sclerosis (MS) has not been comprehensively characterized in the 21th century yet. MS is an autoimmune neurodegenerative disease of the central nervous system (CNS) with unknown etiology. It is a heterogeneous disease both in the course and clinical symptoms and in the clinical response to treatment. Pharmacogenomics has potential to impress the treatment strategies of the diseases. It is related to the targeted populations that are genetically identifiable with the therapeutic interventions and it permits to elicit quick and optimized curative outcomes alongside the least possible side effects. In the case of successful manipulation of the personalized medicine, the trial-and-error approach for the treatment of diseases such as MS would no longer be mandatory. Moreover, pharmacogenetic and pharmacogenomic investigations contribute to the determination of genetic background of individual patients and may open new horizons to the personalized medicine. By identifying the various biological and social determinants of MS outcomes, personalized medicine could be applied in medical interventions and psychosocial manifestations, exercise and nutrition. Application of this highly personalized approach is promising and hopefully would culminate in cost-effective care.

Context: As a globally major health problem, tuberculosis (TB) causes almost two million cases of death annually. Epidemiological studies demonstrate that a third of the world’s individuals is infected with Mycobacterium tuberculosis.
Evidence Acquisition: Approximately 10% of infected patients with M. tuberculosis develop chronic manifestation as TB. Due to HIV coinfection and emerging the drug-resistant TB, the disease has been increasing and its control has been frustrated in several parts of the world.
Current diagnostic techniques and therapeutic tools for TB are not satisfactory. Consequently, it is urgently essential to establish new therapies concerning vaccines, immunotherapeutic agents to provide prosperous attempts for TB controlling. To achieve this goal, it is required to be armed with comprehensive understanding of immunobiology and immunopathogenesis of TB. This would be beneficial in designing new immune-based protections, drug discoveries, personalized medicine by choosing highly-effective immunotherapeutic interventions, identification and development of novel drug candidates.
Hopefully, immunotherapies could be advantageous in modulating the immune system in patients with TB, providing efficient control of M. tuberculosis infection perpetuation and, therefore, its pathogenesis. This review herein attempts to describe the function of immune system in response to TB that is of the therapeutical and clinical importance. Moreover, new insights based on therapeutics to resolve TB with immunological orientation will be discussed.

Multiple sclerosis (MS) is a chronic inflammatory disorder of the CNS characterized by destruction of the myelin sheath, gliosis and progressive neurological dysfunction. The regulatory T (Treg) cells play a major role in the control of the autoimmunity and inflammation. The forkhead box p3 (FOXP3) is a central molecule in the function of Treg cells that play an important role in the immunoregulation. The aim of this study was to investigation single nucleotide polymorphism (SNP), rs2232365, in FOXP3 gene in patients with multiple sclerosis.
In a case-control study, peripheral blood samples were collected from 90 patients with MS (46 men and 94 women with different patterns of disease) from January 2014 to April 2015 in the Afzalipoor Hospital, Kerman (a city located in the southeast of Iran). In a total, 90 healthy subjects were also enrolled into the investigation as a control group. The healthy subjects were recruited among blood donations of the Kerman Transfusion Organization and interviewed regarding CNS disease, and none of them had any history of CNS diseases or other relevant disorders. The SNP rs2232365 in FOXP3 gene was assessed by single specific primer-polymerase chain reaction (SSP-PCR) method. Finally, statistical analysis was performed using SPSS version 22 (Chicago, IL, USA).
In both patients and healthy control groups, there was significant difference among subjects with GG, AG, and AA genotypes at rs2232365 in FOXP3 gene. The frequencies of AA and AG genotypes at rs2232365 in the FOXP3 gene were significantly higher in MS group as compared with healthy subjects (P The results of the present study suggest that SNP rs2232365 may influence the susceptibility to multiple sclerosis. Therefore, SNP rs3761548 may directly or indirectly alter the level of the FOXP3 protein expression in Treg cells.