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Objective: Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism-intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin., Methods: In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. The mutational analysis by direct sequencing of the tubulin folding cofactor E gene was performed for the patients and their families, as well as their fetuses using genomic DNA., Results: Twenty-eight out of 29 cases had parental consanguinity. Twenty-seven cases presented with hypocalcemia seizure and two were referred because of poor weight gain and were found to have asymptomatic hypocalcemia. The dysmorphic features, hypocalcemia in the setting of low to normal parathyroid hormone levels and high phosphorus led to the diagnosis of these cases. Sequencing analysis of the tubulin folding cofactor E gene revealed a homozygous 12-bp deletion (c.155-166del) for all patients. Following that, prenatal diagnosis was performed for eight families, and two fetuses with a homozygous 12-bp deletion were identified., Conclusion: These results make it much easier and faster to diagnose this syndrome from other similar dysmorphisms and also help to detect carriers, as well as prenatal diagnosis of Sanjad-Sakati syndrome in high-risk families in this population., (Copyright © 2018. Published by Elsevier Editora Ltda.)

Background: Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives were to investigate clinical phenotypes and performed molecular studies in Iranian patients with MPS VI, for the first time, in the southwestern Iran., Methods: We studied 14 cases from 10 unrelated kindreds with MPS VI that were enrolled during 8 years. The mutational analysis of coding and flanking regions of ARSB gene was performed for the patients and their families using genomic DNA from whole blood by direct sequencing., Results: All cases had parental consanguinity. Except one who had Fars ethnicity and presented with a very mild degree of coarse face, but normal otherwise, even near normal height, all were from Arab ethnicity with characteristic phenotypes including severe facial changes, cardiac involvement and dysostosis multiplex. Sequencing analysis of ARSB gene revealed four pathogenic homozygote mutations, including a novel nonsense mutation c.281C>A (p.Ser94X) in 9 patients, as well as, a known nonsense mutation c.753C>G (p.Try251X) in 3 cases, and two missense mutations c.904G>A (p.Gly302Arg) and c.454C>T (p.Arg152Trp) in two cases. The type of mutations affected the severity patient's phenotypes., Conclusions: These findings increased the genetic databases of Iranian patients with MPS VI and would be so much helpful for the high-risk families to speed the detection of carriers with accuracy and perform the prenatal test of disorder with cost-effective in this population., (Copyright © 2019. Published by Elsevier B.V.)

Objectives: Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues and short stature. To date, more than 160 different mutations have been reported in the ARSB gene., Materials and Methods: Here, we analyzed 4 Iranian and 2 Afghan patients, with dysmorphism indicating MPS VI from North-east Iran. To validate the patients' type of MPS VI, urine mucopolysaccharide and leukocyte ARSB activity were determined. Meanwhile, genomic DNA was amplified for all 8 exons and flanking intron sequences of the ARSB gene to analyze the spectrum of mutations responsible for the disorder in all patients., Results: Abnormal excretion of DS and low leukocyte ARSB activity were observed in the urine samples of all 6 studied patients. In direct DNA sequencing, we detected four different homozygous mutations in different exons, three of which seem not to have been reported previously: p.H178N, p.H242R, and p.*534W. All three novel substitutions were found in patients with Iranian breed. We further detected the IVS5+2T>C mutation in Afghan siblings and four different homozygous polymorphisms, which have all been observed in other populations., Conclusion: results indicated that missense mutations were the most common mutations in the ARSB gene, most of them being distributed throughout the ARSB gene and restricted to individual families, reflecting consanguineous marriages., Competing Interests: The authors declare that they have no competing interests.

Background: Periodontitis is a disease of tooth supporting tissues, and Gram-negative Bacteria are the main cause of this. Propolis has antibacterial, anti-inflammatory, and antioxidant effects due to its high polyphenol and flavonoids content. The aim of this study is the formulation of a mucoadhesive gel containing concentrated extract of propolis for treatment of periodontitis., Materials and Methods: Formulations containing carbopol 940, sodium carboxymethylcellulose (NaCMC), hydroxypropyl methylcellulose K4M, and propolis extract were prepared. Among ten prepared formulations, five formulations had acceptable and proper physical appearance and uniformity; thus, they were selected for physicochemical tests (centrifugal, thermal change, cooling and heating, freeze and thaw, thermal stress, and pH evaluation), quantification of flavonoids, viscosity, mucoadhesion, drug release, and syringeability tests. We investigated the antibacterial activity of F 10 (carbopol 940 1%, NaCMC 3%) against Porphyromonas gingivalis using the disk diffusion method., Results: Phenolic content was measured 39.02 ± 3.24 mg/g of concentrated extract as gallic acid and flavonoid content was determined 743.28 ± 12.1 mg/g of concentrated extract as quercetin. Highest viscosity (3700 cps) and mucoadhesion (21 MPa) were seen in F 10 . Study of release profile in F 10 also revealed that propolis could release from this system in more than 7 days. All of the five selected formulations had ease of syringeability in 21-gauge needle for drug delivery into periodontal pocket. In the disk diffusion method, F 10 produced significant growth inhibition zones against P. gingivalis ., Conclusion: Controlled release of drug into periodontal pocket helps effective treatment and recovery, higher persistence and reduces drug use frequency. Increase of carbopol 940 leads to viscosity and mucoadhesion elevation and accordingly decreases of release rate. F 10 was the best formulation because of highest viscosity and mucoadhesion and lowest release rate. It had efficient function in treatment of periodontitis, so we recommend it for clinical evaluation., Competing Interests: The authors of this manuscript declare that they have no conflicts of interest, real or perceived, financial or non-financial in this article.