en
jalali
1395
4
1
gregorian
2016
7
1
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online
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fulltext
en
Down Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed.
Down syndrome, trisomy 21, prenatal diagnosis, chromosome abnormality, cell-free fetal DNA (cffDNA), noninvasive prenatal screening (NIPS)
125
133
http://ijmcmed.org/browse.php?a_code=A-10-781-1&slc_lang=en&sid=1
2016/05/10
1395/2/21
2016/07/2
1395/4/12
Mohammad
Kazemi
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
m_kazemi@med.mui.ac.ir
0031947532846007730
0031947532846007730
No
Mansoor
Salehi
Medical Genetic Center of Genome, Isfahan, Iran.
m_salehi@med.mui.ac.ir
0031947532846007731
0031947532846007731
Yes
Majid
Kheirolahi
Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
mkheirollahi@med.mui.ac.ir
0031947532846007732
0031947532846007732
No
en
MAP3K1 May be a Promising Susceptibility Gene for Type 2 Diabetes Mellitus in an Iranian Population
Considering that MAPK (mitogen- activated protein kinase) signaling pathway has an important role in the progression of inflammatory cytokine secretion in type 2 diabetes mellitus (T2DM), we have recently investigated the reported genetic polymorphism from genome wide association study in MAP3K1 (mitogen-activated protein kinase kinase kinase 1) in diabetes as an important member of MAPK signaling. This study aimed to investigate the possible association of rs10461617 at the upstream of MAP3K1 gene in an Iranian case-control study with the risk of T2DM. The study population was comprised of 342 unrelated Iranian individuals including 177 patients with T2DM and 165 unrelated healthy control subjects. Genotyping was performed using PCR-RFLP and confirmed with sequencing. In a logistic regression analysis, the rs10461617A allele was associated with a significantly higher risk of T2DM assuming the log- additive model (OR: 1.44, 95% CI: 1.01-2.05, P = 0.039). In conclusion, we provided the first evidence for the association of rs10461617 at the upstream of MAP3K1 with the risk of T2DM in an Iranian population.
Type 2 diabetes mellitus, genome- wide association study, MAP3K1, cytokines
134
140
http://ijmcmed.org/browse.php?a_code=A-10-822-1&slc_lang=en&sid=1
2016/05/102016/06/1
1395/3/12
2016/07/22016/07/2
1395/4/12
Shahram
Torkamandi
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
shahram.torkamandi@gmail.com
0031947532846007733
0031947532846007733
No
Milad
Bastami
Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
0031947532846007734
0031947532846007734
No
Hamid
Ghaedi
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
0031947532846007735
0031947532846007735
No
Fateme
Moghadam
Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
0031947532846007736
0031947532846007736
No
Reza
Mirfakhraie
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
0031947532846007737
0031947532846007737
No
Mir Davood
Omrani
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
davood_omrani@yahoo.co.uk
0031947532846007738
0031947532846007738
Yes
en
Salvia officinalis (Sage) Leaf Extract as Add-on to Statin Therapy in Hypercholesterolemic Type 2 Diabetic Patients: a Randomized Clinical Trial
The efficacy and safety of Salvia officinalis combined with statin have not been evaluated in dyslipidemic diabetes mellitus type 2 (DDMT2) so far. The plant extract antioxidant activity was determined by the DPPH radical scavenging assay. The total flavonoid, total phenolic and quercetin contents of the capsules containing the plant extract were also measured. Moreover, the effects of 2-month extract intake (500 mg capsule three times a day) as add-on to daily use of 15 mg glyburide, 2000 mg metformin and 10 mg atorvastatin on the blood levels of fasting glucose (FG), 2 h postprandial glucose (2hPPG), glycosylated hemoglobin (HbA1c), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), triglyceride, high-density lipoprotein cholesterol (HDL-C), serum aspartate aminotransferase (AST), serum alanine aminotransferase (ALT), creatinine and body mass index were studied in 50 patients and compared with the placebo group (n=50).The extract IC50 in the DPPH assay was 87.26±0.003 µg/mL (mean±SD), whereas the ascorbic acid IC50 was 5.626± 0.001 µg/mL (mean±SD). The total flavonoid, total phenolic and quercetin contents of the capsule containing the plant extract were 39.76±3.58 mg of rutin equivalents (mean±SD), 30.33±1.23 mg of gallic acid (mean±SD) and 0.13 mg, respectively. The extract lowered FG, 2hPPG, HbA1c, TC, LDL-C and triglyceride levels, but increased HDL-C level compared to the placebo at the endpoint (P<0.05). The extract did not affect the other parameters significantly and no adverse effect was reported. The extract has substantial antioxidant activity which may be beneficial for the prevention of the cardiovascular complications of DDMT2. Moreover, addition of the extract to statin therapy is apparently safe and further improves lipid profile.
Salvia officinalis, statin, dyslipidemia, diabetes mellitus
141
148
http://ijmcmed.org/browse.php?a_code=A-10-780-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/10
1395/2/21
2016/07/22016/07/22016/08/14
1395/5/24
Saeed
Kianbakht
Medicinal Plants Research Center, Institute of Medicinal Plants, ACECR, Karaj, Iran.
skianbakht@yahoo.com
0031947532846007739
0031947532846007739
Yes
Farzaneh
Nabati
Medicinal Plants Research Center, Institute of Medicinal Plants, ACECR, Karaj, Iran.
nabati_f3@yahoo.com
0031947532846007740
0031947532846007740
No
Behrooz
Abasi
Diabetes Clinic, Karaj, Iran.
behroozabas@gmail.com
0031947532846007741
0031947532846007741
No
en
Beneficial Effects of a Protein Rich Diet on Coping Neurotransmitter Levels During Ampicillin-Induced Neurotoxicity Compared to Propionic-Acid Induced Autistic Biochemical Features
This study examined the effects of a protein rich diet on coping neurotransmitter levels in orally administered ampicillin–induced neurotoxic rats compared with propionic acid (PA) models of autism. 40 young male western albino rats were divided into four groups. The first group served as control and received phosphate buffered saline orally; the second group serving as autistic model was treated with oral dose of PA (250 mg/kg body weight/day for 3 days); the third group was treated with the neurotoxic dose of ampicillin (50 mg/kg for three weeks); the fourth group received the same dose of ampicillin and was fed with special protein rich diets. Noradrenaline, dopamine, serotonin glutamate, glutamine and interleukin 6 (IL-6) were measured in the brain homogenate of all tested groups. Specified doses of PA and ampicillin significantly (P<0.001) decreased noradrenaline, dopamine, and serotonin levels when compared to control. Also glutamate, IL-6 levels were significantly (P<0.001) increased in PA treated group while non-significant increase was found in ampicillin treated group. Non-significant increase of glutamine was found in PA treated group with a significant increase in ampicillin treated group. The effects of ampicillin on these parameters were found to be potentiated when the rats were fed on a protein rich diet. Our results end with the conclusion that dietary protein level may be a useful tool to find out a path to restrict neurotransmitter alterations in neurodevelopmental disorders like autism.
Ampicillin, propionic acid, neurotransmitter, brain
149
159
http://ijmcmed.org/browse.php?a_code=A-10-751-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/25
1395/2/6
2016/07/22016/07/22016/08/142016/07/4
1395/4/14
Ramesa
Shafi Bhat
Department of Biochemistry, Science College, King Saud University, Riyadh, Saudi Arabia.
0031947532846007742
0031947532846007742
Yes
Kaushal
Kishore. Chandrul
Department of Pharmaceutical Science, Shri Venkateshwara University, Gajraula, Amroha, Uttar Pradesh, India.
0031947532846007743
0031947532846007743
No
Afaf
El-Ansary
Department of Biochemistry, Science College, King Saud University, Riyadh, Saudi Arabia.
rbhat@ksu.edu.sa
0031947532846007744
0031947532846007744
No
en
Utility of Specific IgE to Ara h 2 in Italian Allergic and Tolerant Children Sensitized to Peanut
Emerging data suggest that measurement of serum IgE to peanut components can be clinically helpful and more accurate than IgE to whole peanut to predict peanut allergy. Not all studies have used prospective samples, multiple components and oral challenges. Currently, there are no data on this topic involving Italian children. 32 patients (23 males; median age 9 years) with reported history for peanut allergy and evidence of peanut sensitization (skin prick test to peanut extract ≥ 3mm) have been analyzed for serum IgE to whole peanut and recombinant allergen components Ara h 1, 2, 3, 8, and 9 with Immuno CAP and completed an open oral food challenge with peanut. 12 (37.5%) children had a positive challenge to peanut and were considered allergic. No differences were seen between the median values of IgE to peanut, Ara h 1, 3, 8 and 9 in allergic and tolerant children to peanut challenge. Noteworthy, 5 of 20 tolerant children had IgE to peanut> 15 kUA/l which is commonly considered a predictive value of peanut allergy. Conversely, a significant difference was seen when comparing the median value of IgE to Ara h 2 in the two groups: 0.75 kUA/l (IQR: 0.22-4.34 kUA/l) in allergic children versus 0.1 kUA/l (IQR: 0.1-0.12 kUA/l) in tolerant ones (P< 0.001). IgE levels to Ara h 2 are significantly higher in children that react to oral peanut challenge. Our findings in Italian children have been in line with recent reports in various populations of Northern Europe, the US and Australia and add confirmatory evidence that analysis of IgE to Ara h 2 could reduce the need for peanut challenge in suspected allergic patients.
Allergy, Ara h 2, peanut, specific Ig E
160
166
http://ijmcmed.org/browse.php?a_code=A-10-762-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/252016/05/1
1395/2/12
2016/07/22016/07/22016/08/142016/07/42016/07/9
1395/4/19
Pasquale
Comberiati
Department of Scienze Chirurgiche, Odontostomatologiche e Materno-infantili, section of Paediatrics, University of Verona, Italy.
0031947532846007745
0031947532846007745
No
Laura
Colavita
Department of Paediatrics, Unit of Genetics and Pediatric Immunology, University Hospital of Messina, Italy.
lauracol85@gmail.com
0031947532846007746
0031947532846007746
Yes
Federica
Minniti
Department of Scienze Chirurgiche, Odontostomatologiche e Materno-infantili, section of Paediatrics, University of Verona, Italy.
0031947532846007747
0031947532846007747
No
Paiola
Giulia
Department of Scienze Chirurgiche, Odontostomatologiche e Materno-infantili, section of Paediatrics, University of Verona, Italy.
0031947532846007748
0031947532846007748
No
Carlo
Capristo
Department of Paediatrics, Faculty of Medicine, Second University of Naples, Naples, Italy.
0031947532846007749
0031947532846007749
No
Cristoforo
Incorvaia
Allergy/Pulmonary Rehabilitation, ICP Hospital, Milan, Italy.
0031947532846007750
0031947532846007750
No
Giampietro Peroni
Diego
Department of Clinical and Experimental Medicine, section of Paediatrics, University of Pisa, Italy.
0031947532846007751
0031947532846007751
No
en
Rapid Induction of Neural Differentiation in Human Umbilical Cord Matrix Mesenchymal Stem Cells by cAMP-elevating Agents
Human umbilical cord matrix (hUCM) is considered as a promising source of mesenchymal stem cells (MSCs) due to several advantages over other tissues. The potential of neural differentiation of hUCM-MSCs is of great interest in the context of treating neurodegenerative diseases. In recent years, considerable efforts have been made to establish in vitro conditions for improving the differentiation of hUCM-MSCs toward neuronal cells. In the present study, we evaluated the neural differentiation potential of hUCM-MSCs in the presence of cAMP-elevating agents forskolin and 3-isobutyl-1-methylxanthine (IBMX). hUCM-MSCs were isolated from fetal umbilical cord and characterized by flow cytometry analysis for mesenchymal specific markers. Mesodermal differentiation potential was assessed through selective media with lineage-specific induction factors. For assessment of neural differentiation, cells were cultured in the presence of cAMP-elevating agents for 8 and 24 h. The neuronal differentiated MSCs were characterized for neuronal specific markers by immunocytochemistry and western blotting. Isolated hUCM-MSCs were found positive for mesenchymal markers (CD73, CD90, and CD105) while negative for hematopoietic markers (CD34 and CD45) .Following neural induction, most cells represented neural-like cells morphology. Neural markers including β-tubulin III (Tuj-1), neuron-specific enolase (NSE), microtubule-associated protein-2 (MAP-2) and nestin were expressed in treated cells with respect to control group. The astrocyte specific marker, glial fibrillary acidic protein (GFAP) was also shown by immunofluorescence in treated cells. (These findings demonstrate that hUCM-MSCs have the ability to rapidly differentiate into neural cell types of neuron-like cells and astrocytes by cAMP-elevating agents without the presence of growth factors.
Umbilical cord matrix mesenchymal stem cells, neural differentiation, cAMP
167
177
http://ijmcmed.org/browse.php?a_code=A-10-854-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/252016/05/12016/06/17
1395/3/28
2016/07/22016/07/22016/08/142016/07/42016/07/92016/08/14
1395/5/24
Atefeh
Shahbazi
Department of Stem Cells and Developmental Biology at Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
ghazal.shahbazii@gmail.com
0031947532846007830
0031947532846007830
No
Fatemeh
Alikarami
Department of Hematology, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
fatemehalikarami43@gmail.com
0031947532846007831
0031947532846007831
No
Saeid
Kargozar
Department of Tissue Engineering and Applied Cell Sciences, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.
kargozarsaeid@gmail.com
0031947532846007832
0031947532846007832
No
Mohammad Hossein
Asadi
Department of Anatomy, School of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran.
asadi_mhd@yahoo.com
0031947532846007833
0031947532846007833
No
Mohammad Taghi
Joghataei
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran.
joghataei@iums.ac.ir
0031947532846007834
0031947532846007834
No
Mansoureh
Soleimani
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran.
mansourehsoleimani@gmail.com
0031947532846007835
0031947532846007835
No
Majid
Safa
Department of Hematology, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
safa.m@iums.ac.ir
0031947532846007836
0031947532846007836
Yes
en
Genistein Induces Apoptosis and Inhibits Proliferation of HT29 Colon Cancer Cells
Soybean isoflavone genistein has multiple anticancer properties and its pro-apoptotic and anti-proliferative effects have been studied in different cancer cells. However, the mechanisms of action of genistein and its molecular targets on human colon cells have not been fully elucidated. Therefore, caspase-3 and p38 mitogen-activated protein kinase (p38 MAPK) as the main therapeutic targets were investigated in this study at both gene expression and protein levels in HT29 colon cancer cells. The caspase-3 and p38 MAPK gene expression levels were examined by real time PCR whereas flow cytometry technique was performed to determine their intracellular protein levels. The caspase-3 enzyme activity was obtained by colorimetric method while the gelatinase activity of matrix metalloproteinase-2 (MMP2) was determined by zymography. In addition, MTT test, wound healing assay and clonogenic assay were carried out to determine the effect of genistein on HT29 cell viability, migration, and proliferation, respectively. Genistein induced apoptotic death in HT29 cells through activation of caspase-3 pathway at the transcriptional, protein, and enzymatic levels. Moreover, genistein inhibited the proliferation of HT29 cells by reducing of both p38 MAPK gene expression and its active phosphorylated protein level. Also, we showed that genistein strongly suppressed the metastatic potency of HT29 colon cancer cells via the reduction of MMP2 activity. Based on the results of this study, we conclude that genistein may exhibit its anticancer properties on HT29 colon cancer cells by modulating caspase-3 and p38 MAPK pathway at different transcriptional and protein levels.
Apoptosis, Caspase-3, Colonic neoplasms, Genistein, p38 Mitogen-Activated Protein Kinases
178
191
http://ijmcmed.org/browse.php?a_code=A-10-794-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/252016/05/12016/06/172016/05/17
1395/2/28
2016/07/22016/07/22016/08/142016/07/42016/07/92016/08/142016/07/11
1395/4/21
Gholamreza
Shafiee
Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
g.r_shafiee@yahoo.com
0031947532846007759
0031947532846007759
No
Massoud
Saidijam
Department of Molecular Medicine and Human Genetics, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan-Iran
sjam110@yahoo.com
0031947532846007760
0031947532846007760
No
Heidar
Tavilani
Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
tavilani@gmail.com
0031947532846007761
0031947532846007761
No
Neda
Ghasemkhani
Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
neda.ghasemkhani@gmail.com
0031947532846007762
0031947532846007762
No
Iraj
Khodadadi
Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
khodadadi@umsha.ac.ir
0031947532846007763
0031947532846007763
Yes
en
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
Hermansky-Pudlak syndrome, HPS1, albinism
192
195
http://ijmcmed.org/browse.php?a_code=A-10-772-1&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/252016/05/12016/06/172016/05/172016/05/9
1395/2/20
2016/07/22016/07/22016/08/142016/07/42016/07/92016/08/142016/07/112016/06/11
1395/3/22
Soudeh
Ghafouri-Fard
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
s.ghafourifard@sbmu.ac.ir
0031947532846007764
0031947532846007764
No
Feyzollah
Hashemi-Gorji
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
gorji@sbmu.ac.ir
0031947532846007765
0031947532846007765
No
Vahid Reza
Yassaee
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
v.yassaee-grc@sbmu.ac.ir
0031947532846007766
0031947532846007766
No
Nasrin
Alipour
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
alipour@sbmu.ac.ir
0031947532846007767
0031947532846007767
No
Mohammad
Miryounesi
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
mmiryounesi123@gmail.com
0031947532846007768
0031947532846007768
Yes
en
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
No abstract is needed for letter to the editor
Emery-Dreifuss, muscular dystrophy, X-linked, EMD, Iranian
196
198
http://ijmcmed.org/browse.php?a_code=A-10-718-2&slc_lang=en&sid=1
2016/05/102016/06/12016/05/102016/04/252016/05/12016/06/172016/05/172016/05/92016/07/20
1395/4/30
2016/07/22016/07/22016/08/142016/07/42016/07/92016/08/142016/07/112016/06/112016/08/14
1395/5/24
Azadeh
Ahmadifard
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
azadeh.ahmadifard@gmail.com
0031947532846007769
0031947532846007769
No
Javad
Jamshidi
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
j.jamshidi@fums.ac.ir
0031947532846007770
0031947532846007770
No
Abbas
Tafakhori
Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
abbas.tafakhori@gmail.com
0031947532846007771
0031947532846007771
No
Zeinab
Falsafi
Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
zyfalasafi235@gmail.com
0031947532846007772
0031947532846007772
No
Hossein
Darvish
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
darvish_mg@yahoo.com
0031947532846007773
0031947532846007773
Yes