Publications by authors named "Sima Mozafar-Jalali"

3 Publications

  • Page 1 of 1

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.

J Dermatol Sci 2017 Oct 13;88(1):134-138. Epub 2017 May 13.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

Background: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies.

Objective: A large multiplex family with NDNC was referred for genetic counselling. Thorough genetic evaluation was performed.

Methods: PCR-Sanger sequencing was carried out for the coding exons and exon-intron boundaries of the FZD6 gene. Co-segregation analysis, in silico evaluation and computational protein modeling was accomplished.

Results: A homozygous 1bp deletion variant, c.1859delC (p.Ser620Cysfs*75), leading to a truncating protein was found in the patient. Parents were heterozygous for the variant. The variant was found to be co-segreagting with the phenotype in the family. Computational analysis and protein modeling revealed its pathogenic consequence by disturbing the cytoplasmic domain structure and signaling through loss of phosphorylation residues. The variant met the criteria of being pathogenic according to the ACMG guideline.

Conclusions: This is the first report of the genetic diagnosis of NDNC in Iran. We also report a novel pathogenic variant. The study of the FZD6 gene is recommended as the first step in the diagnostic routing of the autosomal recessive NDNC patients with enlarged nails.
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http://dx.doi.org/10.1016/j.jdermsci.2017.04.017DOI Listing
October 2017

Intraperitoneal dexamethasone as a new method for relieving postoperative shoulder pain after gynecologic laparoscopy.

Int J Fertil Steril 2012 Apr 19;6(1):59-64. Epub 2012 Jun 19.

Department of Obstetrics and Gynecology, Arash Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: In this study, we tried to show the efficacy of Intraperitoneal dexamethasone on relieving shoulder pain after gynecologic laparoscopy.

Materials And Methods: In this double-blind randomized clinical trial, 63 patients who were candidates for gynecologic laparoscopy were included. At the end of the procedure patients randomly received 16 mg dexamethasone (n=31) or placebo (n=32) intraperitoneally. Visual analogue scale (VAS) was used for clinical evaluation of pain severity during 24 hours after laparoscopy . A physician, who was not aware whether patients were treated with drug or placebo, evaluated the patients.

Results: The severity of pain in the dexamethasone group within 0, 2, 4, 8, 12, 24 hours after procedure was significantly less than in the placebo group (p<0.001). The average consumption of opioids as analgesic/ sedative in the placebo group was more than the dexamethasone group (p=0.025).

Conclusion: Findings of this study show that the prescription of 16 mg of dexametha- sone (single dose) in the peritoneal cavity may significantly reduce the severity of pain after Laparoscopy in comparison with placebo and may decrease the need for narcotics as pain relief (Registration Number: IRCT201105306640N1).
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4260641PMC
April 2012

Endometrial ablation with the NovaSure system in Iran.

Int J Gynaecol Obstet 2011 Jul 19;114(1):73-5. Epub 2011 Apr 19.

Department of Gynecology, Arash Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Objective: To evaluate the rate of response to treatment with the NovaSure endometrial ablation device among Iranian women with menorrhagia.

Methods: Twenty 35-50-year-old women with menorrhagia who were referred to Arash Hospital, Tehran, Iran, in 2008 were enrolled. They underwent endometrial ablation via the NovaSure system and were followed-up for 2 years.

Results: The incidence of amenorrhea was 30.0% at the end of the 2-year follow-up period. Hypomenorrhea was reported by 40.0% of women. The mean number of days of bleeding per month decreased significantly, from 30.0 ± 6.4 days before treatment to 3.1 ± 2.6 days after 2 years (P < 0.001). The severity of bleeding decreased significantly within 2 years after treatment (P < 0.001). In total, 85.0% of women were satisfied and 90.0% had responded to treatment-as defined by amenorrhea, hypomenorrhea, or return to normal menstruation.

Conclusion: The NovaSure system is effective and should be considered by gynecologists for the treatment of menorrhagia.
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http://dx.doi.org/10.1016/j.ijgo.2010.12.023DOI Listing
July 2011