Publications by authors named "Maryam Najafi"

33 Publications

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Brain 2021 06;144(5):1422-1434

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.
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http://dx.doi.org/10.1093/brain/awab041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8219359PMC
June 2021

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Brain 2021 04;144(3):769-780

Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.
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http://dx.doi.org/10.1093/brain/awaa459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041041PMC
April 2021

The associations between dietary patterns and cardiovascular risk factors among adults: A cross-sectional study.

Clin Nutr ESPEN 2020 12 16;40:300-308. Epub 2020 Oct 16.

Department of Community Nutrition, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, Iran; Nutrition Research Center, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

Objective: Cardiovascular diseases (CVDs) are the major causes of death, worldwide. Although for decades the associations between individual foods and nutrients and CVDs have been investigated, little attention has been paid to dietary patterns. Therefore, this study was conducted to examine the association between dietary patterns and CVD risk factors among Iranian adults.

Methods: This cross-sectional study was performed on 236 adults who attended public health centers. Dietary intakes were collected using a valid food frequency questionnaire. Sociodemographic characteristics, anthropometric measures, and biochemical biomarkers were measured using standardized methods. Dietary patterns derived using the factor analysis. Logistic regression assessed the odds of CVD risk factors across tertiles of data-driven dietary patterns.

Results: We identified three dietary patterns. After adjusting for possible confounders, we observed that participants in the third category of the healthy dietary pattern (HDP) had lower odds of low HDL-C (OR = 0.26; 95% CI: 0.10-0.64) compared to those in the first category. Adherence to the mixed pattern was associated with increased odds of high serum TC in men only (OR = 3.69; 95% CI: 1.06-12.81). However, women with higher adherence to the Western dietary pattern (WDP) had higher odds of high serum TG (OR = 5.61; 95% CI: 1.69-18.59), and those with a greater adherence to HDP had lower odds of low HDL-C (OR = 0.25; 95% CI: 0.07-0.98).

Conclusion: This study showed that adherence to HDP may protect against a low level of HDL-C, whereas mixed and Western-type diets may contribute to high serum TG levels. Future longitudinal studies are needed to assess the potential causality of the observed associations.
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http://dx.doi.org/10.1016/j.clnesp.2020.09.001DOI Listing
December 2020

The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.

Arch Iran Med 2020 07 1;23(7):445-454. Epub 2020 Jul 1.

Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: To describe the protocol for developing a national inherited retinal disease (IRD) registry in Iran and present its initial report.

Methods: This community-based participatory research was approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held. The final MDS was handed over to an engineering team to develop a web-based software. In the pilot phase, the software was set up in two referral centers in Iran. Final IRD diagnosis was made based on clinical manifestations and genetic findings. Ultimately, patient registration was done based on all clinical and non-clinical manifestations.

Results: Initially, a total of 151 data elements were approved with Delphi technique. The registry software went live at www. IRDReg.org based on DHIS2 open source license agreement since February 2016. So far, a total of 1001 patients have been registered with a mean age of 32.41±15.60 years (range, 3 months to 74 years). The majority of the registered patients had retinitis pigmentosa (42%, 95% CI: 38.9% to 45%). Genetic testing was done for approximately 20% of the registered individuals.

Conclusion: Our study shows successful web-based software design and data collection as a proof of concept for the first IRD registry in Iran. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned. These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease.
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http://dx.doi.org/10.34172/aim.2020.41DOI Listing
July 2020

An analysis of factors associated with graft topographic outcomes after deep anterior lamellar keratoplasty.

Int Ophthalmol 2020 Oct 18;40(10):2449-2459. Epub 2020 May 18.

Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Boostan 9 St., Pasdaran Ave., Tehran, 16666, Iran.

Purpose: To investigate the correlations between preoperative, operative, and postoperative factors and corneal graft topographic parameters after deep anterior lamellar keratoplasty (DALK) performed in keratoconus-affected eyes.

Methods: This prospective, interventional study enrolled 44 eyes. Graft topographic parameters, including keratometric astigmatism and the surface regularity index (SRI), were assessed after complete suture removal. Univariate analyses were used to evaluate the effects of preoperative factors (donor quality, donor and recipient age, keratoconus severity), operative factors (graft size, donor button roundness, roundness and centration of the donor-recipient junction), and postoperative factors (time point of suture removal) on postoperative topographic parameters.

Results: The roundness of the donor-recipient junction after complete suture removal had a significant association with the roundness of the donor button after trephination (P = 0.04) and the amount of graft decentration relative to the limbus (P = 0.03). A significant correlation was found between the value of graft decentration relative to the limbus and postoperative keratometric astigmatism (P = 0.001) and between the roundness of the donor-recipient junction and the postoperative SRI (P = 0.02). The flat axis of the keratometric astigmatism and the longer axis of the graft lay in the direction of graft displacement. Other investigated factors had no significant association with postoperative topographic indices.

Conclusion: Graft displacement relative to the limbus and roundness of the donor-recipient junction were the main predictors of graft astigmatism and regularity, respectively, after DALK. Noncircularity of the donor button after trephination could increase the graft surface irregularity indirectly by influencing the roundness of the surgical wound.
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http://dx.doi.org/10.1007/s10792-020-01424-2DOI Listing
October 2020

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Brain 2020 05;143(5):1447-1461

Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.

Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.
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http://dx.doi.org/10.1093/brain/awaa085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241960PMC
May 2020

Outcomes of big-bubble deep anterior lamellar keratoplasty for pediatric keratoconus.

Int Ophthalmol 2020 May 23;40(5):1253-1259. Epub 2020 Jan 23.

Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Boostan 9 St, Pasdaran Avenue, Tehran, 16666, Iran.

Purpose: To evaluate the outcomes and complications of deep anterior lamellar keratoplasty (DALK) performed for pediatric keratoconus.

Methods: This retrospective study enrolled 44 consecutive eyes of 39 keratoconus-affected children (≤ 18 years of age). All patients underwent big-bubble DALK from March 2004 to June 2016. The outcome measures included postoperative best spectacle-corrected visual acuity (BSCVA), manifest refraction, keratometry readings, and complications.

Results: The mean participant age was 16.8 ± 1.4 years, and the mean follow-up period was 68.5 ± 39.9 months. Successful big bubble was achieved in 33 eyes (75.0%), while the surgical technique was predescemetic DALK in 11 (25.0%). The mean BSCVA changed from 1.34 ± 0.49 LogMAR preoperatively to 0.24 ± 0.10 LogMAR postoperatively (P < 0.001). The mean keratometry decreased from 59.54 ± 5.17 D preoperatively to 46.23 ± 2.17 D postoperatively (P < 0.001). The complications encountered during the study period were intraoperative Descemet's membrane perforation (n = 5, 11.4%), the Urrets Zavalia syndrome (n = 1, 2.3%), graft epithelial problems (n = 3, 6.8%), subepithelial graft rejection (n = 5, 11.4%), high intraocular pressure (n = 8, 18.2%), and traumatic wound dehiscence (n = 2, 4.6%). Suture-related complications included premature loosening (n = 13, 29.6%), broken sutures (n = 12, 27.3%), suture-tract vascularization (n = 6, 13.6%), suture-associated abscesses (n = 5, 11.4%), and suture cheese wiring (n = 2, 4.6%). A clear graft was found in 40 eyes (90.9%) at the last follow-up examination.

Conclusion: This study showed promising results with big-bubble DALK in keratoconus-affected children. A frequent and close follow-up with dedicated parental involvement is essential for the early recognition and management of postoperative complications.
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http://dx.doi.org/10.1007/s10792-020-01291-xDOI Listing
May 2020

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2019 11 24;105(5):1048-1056. Epub 2019 Oct 24.

Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein. Functional experiments, including in silico analysis of the protein structure, in vitro assessment of cell surface expression, and in vitro knockdown, revealed potential mechanisms of pathogenicity of the variants, including loss of protein function and decreased neurite outgrowth. Our data indicate that appropriate expression of NTNG2 plays an important role in neurotypical development.
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http://dx.doi.org/10.1016/j.ajhg.2019.09.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849109PMC
November 2019

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Brain 2019 10;142(10):2948-2964

Department of Clinical and Experimental Medicine, University of Messina, Sicily.

Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by the NFASC gene, and its alternative isoforms Nfasc186 and Nfasc140 (located in the axonal membrane at the node of Ranvier) and Nfasc155 (a glial component of the paranodal axoglial junction). We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement, who were found by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous variants in NFASC. Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expression was also observed in association with two non-synonymous variants affecting the fibronectin type III domain. Cell aggregation studies revealed a severely impaired Nfasc155-CNTN1/CASPR1 complex interaction as a result of the identified variants. Immunofluorescence staining of myelinated fibres from two affected individuals showed a severe loss of myelinated fibres and abnormalities in the paranodal junction morphology. Our results establish that recessive variants affecting the Nfasc155 isoform can affect the formation of paranodal axoglial junctions at the nodes of Ranvier. The genetic disease caused by biallelic NFASC variants includes neurodevelopmental impairment and a spectrum of central and peripheral demyelination as part of its core clinical phenotype. Our findings support possible overlapping molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease, but the observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function.
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http://dx.doi.org/10.1093/brain/awz248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763744PMC
October 2019

Cultural competence in nursing: A concept analysis.

Int J Nurs Stud 2019 Nov 2;99:103386. Epub 2019 Aug 2.

Candidate of English Language Teaching, Department of English Language, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran. Electronic address:

Background: Cultural competence is one of the principal foundations of clinical nursing. It has not yet been clearly defined and analysed and there are different views regarding this issue.

Objective: Analyzing the concept of cultural competence in nursing.

Design: A concept analysis.

Data Sources: The literature was searched using electronic databases including PubMed, ScienceDirect, Scopus, ProQuest, Google Scholar, CINAHL, Wiley, Ovid, Magiran, and SID with no date limitation. Any quantitative or qualitative studies published in English or Persian, which were focused on cultural competence in nursing were included in the study.

Review Methods: Walker and Avant's strategy for concept analysis was used. The attributes, antecedents, consequences, and uses of the concept were identified.

Results: A total of 43 articles were included. The six defining attributes of cultural competence were cultural awareness, cultural knowledge, cultural sensitivity, cultural skill, cultural proficiency, and dynamicity. Antecedents included cultural diversity, cultural encounter and interaction, cultural desire, cultural humility, general humanistic competencies, educational preparation, and organizational support. The consequences of cultural competence were also identified: those related to care receivers, those related to care providers, and health-related consequences.

Conclusion: A theoretical definition and a conceptual model of cultural competence were developed. The attributes, antecedents, and consequences of cultural competence identified in this study can be used in nursing education, research, and managerial and organizational planning.
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http://dx.doi.org/10.1016/j.ijnurstu.2019.103386DOI Listing
November 2019

Configuration of recipient corneal cut after mechanical trephination in keratoconus.

Int Ophthalmol 2019 Nov 9;39(11):2553-2559. Epub 2019 Apr 9.

Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Boostan 9 St., Pasdaran Ave., Tehran, 16666, Iran.

Purpose: To determine the roundness of recipient corneal cuts after mechanical trephination and to investigate possible factors that could affect the corneal bed configuration in deep anterior lamellar keratoplasty (DALK).

Methods: This study enrolled 85 eyes with keratoconus that underwent DALK. Recipient corneas were partially trephined using a new, unused, disposable Hessburg-Barron suction trephine. Photographs that best represented the recipient corneal cut were selected, and ImageJ software was used to evaluate the roundness of recipient bed. The effect of potential variables on the roundness of cuts was investigated using the univariate analyses.

Results: The mean patient age was 31.0 ± 9.0 years. The mean recipient trephine size was 8.04 ± 0.29 mm (range 7.5-8.50 mm). The recipient cut roundness was 0.922 ± 0.070, varying from 0.78 to 1.0. The roundness of the corneoscleral limbus (0.874 ± 0.074) which represented the shape of recipient cornea was the main predictor of the configuration of recipient cut (r = 0.84, P < 0.001). Other preoperative characteristics investigated were mean keratometry (P = 0.63), keratometric astigmatism (P = 0.18), central corneal thickness (P = 0.64), keratoconus severity (P = 0.37), and trephine size (P = 0.50) that demonstrated no significant associations with the roundness of cut.

Conclusions: The recipient corneal cut after mechanical trephination may not be circular. The roundness of recipient bed was primarily affected by the roundness of corneoscleral limbus, indicating that the shape of recipient cut tends to follow the original shape of the cornea.
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http://dx.doi.org/10.1007/s10792-019-01103-xDOI Listing
November 2019

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in have been identified as causative to date. A 57 kb deletion encompassing parts of is most commonly identified in Caucasians but this allele has not been identified in individuals of Eastern Mediterranean, Middle Eastern, Persian, or Arab origin to date. Implementing whole exome sequencing (WES) in a consanguineous Iranian family, we identified this large deletion affecting in a patient initially presenting with hypokalemic metabolic alkalosis symptoms and considerable proteinuria. We show WES is a cost and time efficient genetic diagnostics modality to identify the underlying molecular pathology in Cystinosis individuals and provide a summary of all previously reported CTNS alleles in the Middle east population. Our work also highlights the importance to consider the 57-kb deletion as underlying genetic cause in non-European populations, including the Middle East. Limited diagnostic modalities for Cystinosis in developing countries could account for the lack of previously reported cases in these populations carrying this allele. Further, our findings emphasize the utility of WES to define genetic causes in clinically poorly defined phenotypes and demonstrate the requirement of Copy number variation (CNV) analysis of WES data.
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http://dx.doi.org/10.3389/fped.2019.00089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437787PMC
March 2019

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Like for other rare genetic disorders, implementation of Next Generation Sequencing (NGS) technologies has greatly facilitated genetic diagnostics and counseling over the last years. In this study, we describe the clinical, biochemical and genetic characteristics of patients from 15 Iranian families with a clinical diagnosis of Bartter Syndrome.

Results: Age range of patients included in this study was 3 months to 6 years and all patients showed hypokalemic metabolic alkalosis. 3 patients additionally displayed hypercalciuria, with evidence of nephrocalcinosis in one case. Screening by Whole Exome Sequencing (WES) and long range PCR revealed that 12/17 patients (70%) had a deletion of the entire CLCNKB gene that was previously identified as the most common cause of Bartter Syndrome in other populations. 4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene. 1 case (5%) remained unsolved.

Conclusions: Our findings demonstrate deletion of CLCNKB is the most common cause of Bartter syndrome in Iranian patients and we show that age of onset of clinical symptoms as well as clinical features amongst those patients are variable. Further, using WES we were able to prove that nearly 1/4 patients in fact suffered from Pseudo-Bartter Syndrome, reversing the initial clinical diagnosis with important impact on the subsequent treatment and clinical follow up pathway. Finally, we propose an algorithm for clinical differential diagnosis of Bartter Syndrome.
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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019

Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.

Avicenna J Med Biotechnol 2018 Oct-Dec;10(4):273-276

Genome Research Division, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 KL, Nijmegen, The Netherlands.

Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the and . It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Here, for the first time, association of pathogenic variant c.2860C>T in gene in an Iranian family with positive history of CFEO-M1A was reported.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252030PMC
December 2018

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Hum Mutat 2019 03 25;40(3):267-280. Epub 2018 Dec 25.

Department of Genetic, Medicine and Development, University of Geneva Medical Faculty, Geneva, Switzerland.

Next-generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the underlying disease mechanisms. Using whole exome (WES) and whole genome sequencing (WGS) in four independent families with hypotonia, neurodevelopmental delay, facial dysmorphism, loss of white matter, and thinning of the corpus callosum, we identified four previously unreported homozygous truncating PPP1R21 alleles: c.347delT p.(Ile116Lysfs*25), c.2170_2171insGGTA p.(Ile724Argfs*8), c.1607dupT p.(Leu536Phefs*7), c.2063delA p.(Lys688Serfs*26) and found that PPP1R21 was absent in fibroblasts of an affected individual, supporting the allele's loss of function effect. PPP1R21 function had not been studied except that a large scale affinity proteomics approach suggested an interaction with PIBF1 defective in Joubert syndrome. Our co-immunoprecipitation studies did not confirm this but in contrast defined the localization of PPP1R21 to the early endosome. Consistent with the subcellular expression pattern and the clinical phenotype exhibiting features of storage diseases, we found patient fibroblasts exhibited a delay in clearance of transferrin-488 while uptake was normal. In summary, we delineate a novel neurodevelopmental syndrome caused by biallelic PPP1R21 loss of function variants, and suggest a role of PPP1R21 within the endosomal sorting process or endosome maturation pathway.
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http://dx.doi.org/10.1002/humu.23694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370506PMC
March 2019

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive erebellar, cular, cranioacial and enital features (COFG syndrome).

J Med Genet 2019 05 28;56(5):332-339. Epub 2018 Nov 28.

Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.

Background: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.

Objective: A homozygous truncating variant in has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families.

Results: We identified four homozygous loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly.

Conclusion: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis.
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http://dx.doi.org/10.1136/jmedgenet-2018-105623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581149PMC
May 2019

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Kidney Int Rep 2018 Nov 29;3(6):1454-1463. Epub 2018 Jul 29.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.

Introduction: Monogenetic renal diseases, including recessively inherited nephrotic syndromes, represent a significant health burden despite being rare conditions. Precise diagnosis, including identification of the underlying molecular cause, is especially difficult in low-income countries and/or if affected individuals are unavailable for biochemical testing. Whole-exome sequencing (WES) has opened up novel diagnostic perspectives for these settings. However, sometimes the DNA of affected individuals is not suitable for WES due to low amounts or degradation.

Methods: We report on the use of parental WES with implementation of specific stepwise variant filtering to identify the underlying molecular cause of the childhood-onset nephrotic syndrome as nephrosialidosis resulting from a mutation in .

Results: Sequencing both parents enabled a nephrosialidosis diagnosis in the deceased child. To date, only 16 other cases of nephrosialidosis have been reported in the literature, with only 1 genetically confirmed case. After we reviewed the clinical information of all reported cases, we found that most patients presented with proteinuria, which started at between 2 and 3 years of age. Renal pathology showed mainly focal segmental glomerulosclerosis (FSGS)with vacuolated cells, and steroid treatment was always unsuccessful. Hepatomegaly was present in nearly all cases, whereas corneal clouding and a cherry red spot on the macula was observed in only approximately 50% of cases. Fourteen of 16 previously reported cases were no longer alive at the time of reporting.

Conclusions: Our findings demonstrate the power of parental WES to diagnose rare genetic diseases, such as childhood-onset nephrotic syndrome. We further provide a comprehensive overview of the clinical course of nephrosialidosis and raise awareness of this ultra-rare condition as an underlying cause of FSGS.
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http://dx.doi.org/10.1016/j.ekir.2018.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224678PMC
November 2018

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

BMC Med Genet 2018 11 12;19(1):196. Epub 2018 Nov 12.

Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.

Background: IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes with autosomal recessive inheritance. These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.

Methods: Genomic DNA from Iranian probands from two families with consanguineous parental background and overlapping CAGSSS features were subjected to exome sequencing and bioinformatics analysis.

Results: Exome sequencing and data analysis revealed a novel homozygous missense variant (c.2625C > T, p.Pro909Ser, NM_018060.3) within a 14.3 Mb run of homozygosity in proband 1 and a novel homozygous missense variant (c.2282A > G, p.His761Arg) residing in an ~ 8 Mb region of homozygosity in a proband of the second family. Patient-derived fibroblasts from proband 1 showed normal respiratory chain enzyme activity, as well as unchanged oxidative phosphorylation protein subunits and IARS2 levels. Homology modelling of the known and novel amino acid residue substitutions in IARS2 provided insight into the possible consequence of these variants on function and structure of the protein.

Conclusions: This study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2. Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II esophageal achalasia and proposes that a variable sensorineural hearing loss onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1. Our findings support that even though biallelic IARS2 pathogenic variants can result in a distinctive, clinically recognisable phenotype in humans, it can also show a wide range of clinical presentation from severe pediatric neurological disorders of Leigh and West syndrome to both non-syndromic cataract and cataract accompanied by skeletal dysplasia.
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http://dx.doi.org/10.1186/s12881-018-0709-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233262PMC
November 2018

Emergency Department Response in Dealing with Crimean-Congo Hemorrhagic Fever Patients.

Iran J Public Health 2018 Sep;47(9):1430-1431

Dept. of Medical Entomology and Vector Control, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174061PMC
September 2018

Expression of Pluripotency Markers, SOX2 and OCT4, in Pterygium Development.

Crit Rev Eukaryot Gene Expr 2018 ;28(2):155-162

Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.

Pterygium is a common ocular surface disease characterized by the abnormal epithelial proliferation, matrix remodeling, vascularization and the migration of the lesion. Although the etiology of pterygium is elusive, recent studies have focused on the role of limbal stem cells (LSCs) damage and effects of UVB. This study aimed to determine the expression levels of pluripotent markers of SOX2 and OCT4 in primary pterygium and normal conjunctiva. Using real time polymerase chain reaction (PCR), the SOX2 and OCT4 expressions were compared in primary pterygium and normal conjunctiva. This study assessed the correlation between SOX2 mRNA expression and OCT4 mRNA expression, as well as the association between the clinicopathological indices and both gene expression levels. The relative mRNA expression levels of OCT4 genes in primary pterygium were significantly reduced compared to the normal conjunctiva tissues. The association between OCT4 gene expression and the clinicopathological indices reported significant laterality (P = .004) and marginal growth activity indices (P = .063). The univariate correlation between the SOX2 and OCT4 expressions was statistically significant (P = .001). The present study emphasized the downregulation of pluripotent marker OCT4 genes in the pterygium. It is speculated that these results may predict a new avenue for exploring the role of stem cell deficiency in the development of pterygium.
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http://dx.doi.org/10.1615/CritRevEukaryotGeneExpr.2018024658DOI Listing
August 2019

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Hum Genet 2018 Jul 7;137(6-7):479-486. Epub 2018 Jul 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.
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http://dx.doi.org/10.1007/s00439-018-1901-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478175PMC
July 2018

Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists.

J Dent (Shiraz) 2017 Jun;18(2):73-81

Dept. of Periodontology, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran.

Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016. The inclusion criterion was the dental etiology and/or dental treatment. Out of 1260 articles, only 37 articles met the inclusion criteria. OMD can be caused or exacerbated through different dental treatments within which anyone is likely to be involved due to various reasons. Some novel methods employed to relieve this syndrome have led to certain cure or improvement of symptoms in several cases. OMD patients may refer to dentists with involuntary jaw movements and intraoral presentations. Thus, the dentists should be aware of the symptoms and signs and refer the suspicious cases. Dentists should also be familiar with special considerations when managing OMD patients.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463774PMC
June 2017

Greater adherence to the dietary approaches to stop hypertension (DASH) dietary pattern is associated with lower blood pressure in healthy Iranian primary school children.

Eur J Nutr 2018 Jun 21;57(4):1449-1458. Epub 2017 Mar 21.

Nutrition Research Center, School of Nutrition and Food Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.

Purpose: The dietary determinants of children blood pressure (BP) are poorly understood. We examined the association between adherence to the dietary approaches to stop hypertension (DASH) dietary pattern and BP in healthy Iranian primary school children.

Methods: This cross-sectional study was conducted among a representative sample (n = 407) of healthy Shirazi students aged 6-12 years. Subjects' systolic and diastolic BP were measured by a validated oscillometric BP monitor. Usual dietary intakes over the past 12 months were assessed using a valid and reproducible 168-item semi-quantitative food frequency questionnaire via face-to-face interviews. A DASH score was calculated for each subject based on his/her energy-adjusted intakes of 8 major dietary components emphasized or minimized in the DASH dietary pattern. The higher the DASH score of a subject, the more his/her adherence to the DASH dietary pattern.

Results: After controlling for several potential confounders in the analysis of covariance models, multivariable-adjusted means of systolic and mean BP of subjects in the highest tertile of DASH score were significantly lower than those in the lowest tertile (for systolic BP: mean difference -6.2 mmHg, P = 0.010; and for mean BP: mean difference -5.4 mmHg, P = 0.013). Furthermore, a similar but statistically insignificant difference was found in terms of multivariable-adjusted means of diastolic BP (mean difference -3.9 mmHg, P = 0.146).

Conclusions: The findings suggest that greater adherence to the DASH dietary pattern is associated with lower BP in healthy Iranian primary school children. However, future prospective studies of adequate methodological quality are warranted to confirm these findings.
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http://dx.doi.org/10.1007/s00394-017-1423-1DOI Listing
June 2018

Crosstalk between SHH and stemness state signaling pathways in esophageal squamous cell carcinoma.

J Cell Commun Signal 2017 Jun 30;11(2):147-153. Epub 2016 Nov 30.

Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.

The expression of GLI1 as a downstream gene of sonic hedgehog (Hh) pathway, studied in a variety of cancers including esophageal squamous cell carcinoma (ESCC). However, the interaction of Hh with other developmental pathways needs to be elucidated. In this study, we aimed to investigate the correlation of GLI1 expression with transcription factors (TFs) of stem cell signaling pathways, and their association with clinico-pathological data of ESCC. Using real-time PCR, we assessed the expression of GLI1 mRNA in 49 ESCC patients, and analyzed the correlation between GLI1 and selected TFs. The results showed overexpression of GLI1 in ESCC tissues in significant correlation with lymph node metastasis. The GLI1 up-regulation was also correlated to the SOX2 and SIZN1 (Smad-interacting zinc finger protein) expression. These correlations may confirmed the role of GLI1 in crosstalk among different cell signaling pathways in ESCC. To our knowledge, this is the first study to demonstrate the correlation of GLI1 expression with stemness marker and BMP signaling in ESCC.
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http://dx.doi.org/10.1007/s12079-016-0366-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440343PMC
June 2017

Contribution of LATS1 and LATS2 promoter methylation in OSCC development.

J Cell Commun Signal 2017 Mar 19;11(1):49-55. Epub 2016 Oct 19.

Departement of Biology, University of Sistan and Baluchestan, P.O. Box 98155-987, Zahedan, Iran.

The aberrant DNA methylation of the tumor suppressor genes involved in DNA Damage Response (DDR) signaling and cell cycle regulation may lead to the tumorigenesis. Our purpose here is to analyze the promoter methylation and mRNA expression levels of LATS1 and LATS2 (LATS1/2) genes in OSCC. Promoter methylation status of LATS1/2 genes was evaluated in 70 OSCC paraffin-embedded tissues and 70 normal oral samples, using Methylation Specific PCR (MSP). LATS1/2 mRNA expression profiles were also investigated in 14 OSCC patients and 14 normal samples, using real-time PCR. In both candidate genes, promoter methylation assessment revealed significant relationship between cases and controls (OR = 2.24, 95 % CI = 1.40-3.54, P = 0.001; LATS1 and OR = 15.5, 95%CI = 3.64-64.76, P < 0.001; LATS2). As well as, the evaluation of mRNA expression levels showed decreased expression in OSCC tissues in compare to control tissues. (Mean ± SD 1.74 ± 0.14 in OSCC versus 2.10 ± 0.24 in controls, P < 0.001; LATS1 and Mean ± SD 1.36 ± 0.077 in OSCC versus 1.96 ± 0.096 in controls, P < 0.001; LATS2). To the best our knowledge, this is the first report regarding the down-regulation of LATS1/2 through promoter methylation in OSCC. It is suggested to explore the down-stream transcription factors of both genes for finding the molecular mechanism of this deregulation in OSCC.
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http://dx.doi.org/10.1007/s12079-016-0356-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362570PMC
March 2017

SOX1 is correlated to stemness state regulator SALL4 through progression and invasiveness of esophageal squamous cell carcinoma.

Gene 2016 Dec 27;594(2):171-175. Epub 2016 Aug 27.

Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran. Electronic address:

SOX1, as a tumor suppressor, play anti-tumorigenecity role in different cells and its expression is inhibited in a variety of cancers. The aim of this study was to evaluate SOX1 expression and its correlation with cancer stem cell (CSC) markers in ESCC. Using real time PCR, the relative comparative expression of SOX1 in 40 ESCC samples was assessed compared to related margin normal tissues, and its correlation with CSC markers including SALL4, SOX2, and MEIS1 was analyzed statistically. The results revealed significant under-expression of SOX1 in ESCC in significant correlation with different indices of poor prognosis including depth of tumor invasion (P=0.02), Stage of tumor cell progression (P=0.05), and number of involved lymph node metastasis (P=0.05). Furthermore, the under-expression of SOX1 was associated significantly with SALL4 overexpression. This study was the first to evaluate SOX1 underexpression and its association with poor prognosis in ESCC. Since correlation of SOX1 and SALL4 was detected in advanced stages of ESCC progression, as well as high invasive and aggressive tumor tissues, it may be extrapolated that SOX1 expression may have critical role in inhibition of ESCC invasiveness and aggressiveness especially in advanced stages of the disease.
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http://dx.doi.org/10.1016/j.gene.2016.08.045DOI Listing
December 2016

Evaluation of LATS1 and LATS2 Promoter Methylation with the Risk of Pterygium Formation.

J Ophthalmol 2016 28;2016:5431021. Epub 2016 Jan 28.

Department of Ophthalmology, Al-Zahra Eye Hospital, Zahedan University of Medical Sciences, Zahedan 98167-43463, Iran.

Purpose. Pterygium is a serious eye problem in countries with high exposure to UV. However, despite numerous studies, the molecular etiology of pterygium is unclear. Recent studies have indicated that LATS1 and LATS2 genes are involved in DDR signaling pathways against continuous UV exposure. Our aim was to evaluate the LATS1 and LATS2 promoter methylation with the risk of pterygium formation. Methods. We evaluated the promoter methylation status of LATS1 and LATS2 using methylation-specific PCR technique. Also, mRNA expression of LATS1 and LATS2 was assessed in 14 cases of pterygium and 14 normal specimens by real-time PCR. Results. Promoter methylation of LATS1 and LATS2 was detected significantly between pterygium tissues and normal tissues [LATS1; OR = 4.9; 95% CI: 1.54 to 15.48, P = 0.003; LATS2; OR = 7.1; 95% CI: 1.53 to 33.19, P = 0.004]. The gene expression analysis showed a statistically significant difference between pterygium tissues and healthy controls for both LATS1 and LATS2 (P < 0.05). Conclusions. The data of this study is the first report regarding the effect of promoter methylation of the LATS1 and LATS2 in the pterygium. To confirm these data, doing further studies in various genetic populations with large sample sizes using advanced molecular techniques is proposed.
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http://dx.doi.org/10.1155/2016/5431021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4749796PMC
March 2016

The Effectiveness of Emotionally Focused Couples Therapy on Sexual Satisfaction and Marital Adjustment of Infertile Couples with Marital Conflicts.

Int J Fertil Steril 2015 Oct-Dec;9(3):393-402. Epub 2015 Oct 31.

Abadan College of Medical Sciences and Health Services, Abadan, Iran.

Background: The purpose of this investigation is to determine the efficacy of emotionally focused couples therapy (EFT-C) on enhancement of marital adjustment in infertile couples.

Materials And Methods: This was a semi-experimental study with a pre- and post-test design. We selected 30 infertile couples (60 subjects) by purposive sampling. Couples were randomly assigned to two groups, sample and control. Each group consisted of 15 couples who had marital maladjustment and low sexual satisfaction. Couples answered the marital adjustment and sexual satisfaction questionnaires at baseline after which the sample group received 10 sessions of EFT-C.

Results: Results of pre-test and post-test showed that EFT-C significantly impacted marital adjustment and sexual satisfaction.

Conclusion: EFT-C had a significant effect on enhancement of satisfaction, cohesion and affectional expression. This approach impacted physical and emotional sexual satisfaction of infertile couples.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671378PMC
http://dx.doi.org/10.22074/ijfs.2015.4556DOI Listing
December 2015

A Western dietary pattern is associated with higher blood pressure in Iranian adolescents.

Eur J Nutr 2017 Feb 3;56(1):399-408. Epub 2015 Nov 3.

Department of Community Nutrition, School of Nutrition and Food Sciences, Research Center for Health Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.

Purpose: The dietary determinants of adolescent blood pressure (BP) are not well understood. We determined the association between major dietary patterns and BP in a sample of Iranian adolescents.

Methods: This cross-sectional study was conducted among a representative sample (n = 557) of Shirazi adolescents aged 12-19 years. Participants' systolic and diastolic BP was measured using a validated oscillometric BP monitor. Usual dietary intakes during the past 12 months were assessed using a valid and reproducible 168-item semiquantitative food frequency questionnaire through face-to-face interviews. Principal component factor analysis was used to identify major dietary patterns based on a set of 25 predefined food groups.

Results: Overall, three major dietary patterns were identified, among which only the Western pattern (abundant in soft drinks, sweets and desserts, salt, mayonnaise, tea and coffee, salty snacks, high-fat dairy products, French fries, and red or processed meats) had a significant association with BP. After adjusting for potential confounders in the analysis of covariance models, multivariable adjusted means of the systolic and mean BP of subjects in the highest tertile of the Western pattern score were significantly higher than those in the lowest tertile (for systolic BP: mean difference 6.9 mmHg, P = 0.001; and for mean BP: mean difference 4.2 mmHg, P = 0.003). A similar but statistically insignificant difference was observed in terms of diastolic BP.

Conclusions: The findings suggest that a Western dietary pattern is associated with higher BP in Iranian adolescents. However, additional large-scale prospective studies with adequate methodological quality are required to confirm these findings.
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http://dx.doi.org/10.1007/s00394-015-1090-zDOI Listing
February 2017
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