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1. Evaluation of surface properties of two remineralizing agents after modification by chitosan nano particles: An In vitro study

Author

Dina Mohamed Wahied, Naglaa Ezzeldin, Ali Abdelnabi, Maha Sherif Othman, and Mai Hesham Abd El Rahman

Subjects
calcium phosphates, chitosan, remineralization, scanning electron microscopy, Dentistry, RK1-715
Abstract

Background: Calcium phosphate-based systems have been introduced as promising bio-mimetic materials due to their close resemblance to the enamel. Chitosan and its derivatives have been an emerging biomaterial due to their additional antibacterial effect and promising re-mineralizing ability. Aim: The aim of this study is to evaluate the effect of chitosan nanoparticles on the remineralization of the demineralized enamel surface after being added to nano-hydroxyapatite and nano-calcium phosphate materials. Setting and Design: This was in vitro study. Materials and Methods: Twenty specimens of extracted permanent molars were collected, and then immersed in demineralizing solution, then distributed into four groups according to the remineralizing material. Group 1: Treated with Nano-beta-tricalcium phosphate (Nβ-TCP) gel, Group 2: Treated with Nβ-TCP with chitosan gel, Group 3: Treated with Nanohydroxyapatite (NHA) gel, and Group 4: Treated with NHA with chitosan gel. The surface hardness of the teeth was measured at baseline, after demineralization, and after remineralization. The structural changes in each group were analyzed using the scanning electron microscopy. Statistical Analysis: Shapiro–Wilk's test, one-way ANOVA followed by Tukey's post hoc test was used. Results: In all groups, there was a significant difference in mean Vickers hardness number (VHN) at different intervals, with the highest value found after treatment (301.64–395.65) VHN, followed by the baseline (236.97–276.15) VHN, while the lowest value was detected after demineralization (121.23–124.39) VHN. It was also indicated that baseline treatment, the Hardness percentage change (%) of the nano NHA + Chitosan group showed the highest significant value (55.10%), while the Nβ-TCP group exhibited the lowest significant value (9.56%). Conclusions: It can be concluded that NHA and NB-TCP modified by chitosan NPs as remineralizing agents of enamel surface hold promising results.

Published
2023
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2. Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Author

Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, and Khalid Hussain

Subjects
wolfram syndrome, wfs1, diabetes mellitus, diabetes insipidus, optic atrophy, sensorineural deafness, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.

Published
2021
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3. Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Author

Khalid Hussain, Meliha Demiral, Edip Unal, Dogus Vuralli, Riza Taner Baran, Mehmet Nuri Ozbek, Ayşe Nurcan Cebeci, Gonul Buyukyilmaz, Sophia Tahir, Maha Sherif, Atilla Cayir, Busra Cavdarli, Huseyin Demirbilek, and Sofia A. Rahman

Subjects
Wolfram syndrome, Endocrinology, Diabetes and Metabolism, wolfram syndrome, Pedigree chart, medicine.disease_cause, lcsh:Diseases of the endocrine glands. Clinical endocrinology, sensorineural deafness, Endocrinology, medicine, optic atrophy, Gene, Exome sequencing, Genetics, Mutation, lcsh:RC648-665, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, Disease gene identification, Stop codon, Chromosome 4, diabetes insipidus, Pediatrics, Perinatology and Child Health, diabetes mellitus, business, wfs1
Abstract

Objective Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnormalities, and neuropsychiatric disorders. We evaluated patients presented with an incomplete phenotype of WS1 using homozygosity mapping and subsequent whole-exome sequencing. Patients and methods Four unrelated consanguineous Turkish families (7 affected children), and their unaffected parents and siblings were evaluated. Homozygosity mapping (HZM) was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of "in silico" analyses, protein prediction, and functional consequences. Results Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, and absent from their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c. 1522_1523delTA) mutations in WFS1 gene. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers. Conclusion Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.

Published
2021

4. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

Author

Khalid Hussain, Sophia Tahir, Atilla Cayir, Maha Sherif, Caley Laxer, Huseyin Demirbilek, and Sofia Rahman

Subjects
0301 basic medicine, Adult, Male, Heterozygote, Adolescent, Turkey, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Nonsense, Cell Cycle Proteins, Consanguinity, 03 medical and health sciences, Young Adult, Endocrinology, medicine, Humans, Child, Gene, Alstrom Syndrome, media_common, Genetics, business.industry, Siblings, Homozygote, Proteins, Heterozygote advantage, medicine.disease, Prognosis, Phenotype, Pedigree, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, business, Novel mutation, Alström syndrome
Abstract

Background Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alstrom syndrome 1 (ALMS1) gene located at 2p13.1. Methods In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS. Results Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of ALMS1 gene. The consanguineous parents were sequenced and both were heterozygous for the same mutation. Conclusions This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in ALMS1 gene responsible for the complex phenotype of AS in these patients.

Published
2015

5. A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Author

Lieve Gj Leijssen, Maha Sherif, Khalid Hussain, Anabela Morais, Sophia Tahir, and Carla Pereira

Subjects
Pediatrics, medicine.medical_specialty, Mutation, TRMA, biology, business.industry, Megaloblastic anaemia, Case Report, Sensorineural deafness, medicine.disease_cause, medicine.disease, SLC19A2 mutation, Exon, Diabetes mellitus, SLC19A2, biology.protein, Medicine, Thiamine, Differential diagnosis, business
Abstract

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient’s diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms.

Published
2015

7. Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia

Author

Khalid Hussain, Riza Taner Baran, Pratik Shah, Maha Sherif, Mehmet Nuri Ozbek, Sophia Tahir, Ved Bhushan Arya, Ahmet Baran, Huseyin Demirbilek, and Nebahat Hatipoglu

Subjects
Male, Receptors, Neuropeptide, medicine.medical_specialty, Pituitary gland, Growth-hormone-releasing hormone receptor, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Context (language use), Biology, Biochemistry, Short stature, symbols.namesake, Endocrinology, Receptors, Pituitary Hormone-Regulating Hormone, Pituitary Gland, Anterior, Pregnancy, Internal medicine, medicine, Missense mutation, Humans, Family, Sanger sequencing, Human Growth Hormone, Biochemistry (medical), Brain, Chromosome Mapping, Infant, Disease gene identification, Body Height, Hypoglycemia, Pedigree, medicine.anatomical_structure, symbols, IGHD, Female, medicine.symptom
Abstract

Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD).This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of severe short stature in a large consanguineous family with IGHD.The index case presented with a hypoglycemic convulsion, following which eight members in two related consanguineous Turkish families were identified with IGHD. Homozygosity mapping identified the homozygous regions shared only among the affected individuals. Sanger sequencing of GHRHR, which resided in the shared homozygous region, was performed. In silico analysis of the pathogenic GHRHR variant was performed.The clinical presentation and hormonal analysis confirmed GH deficiency in all affected individuals. Magnetic resonance imaging scan of the pituitary gland showed anterior pituitary hypoplasia in five affected individuals in which the youngest was only 0.4 years old, but with normal pituitary size in three affected individuals. Homozygosity mapping showed two large homozygous regions on chromosome 7 shared only among affected individuals. Sanger sequencing of GHRHR gene present in one of these shared regions identified a novel homozygous missense mutation (p.C64G) segregating with the disease phenotype. In silico analysis predicted the mutation to be deleterious and disease causing.We describe a large consanguineous Turkish kindred with IGHD due to a novel homozygous missense GHRHR mutation. This is the first description of presentation with hypoglycemia and the earliest reported occurrence of anterior pituitary hypoplasia in patients with GHRHR mutation.

Published
2014

8. Evaluation of Surface Properties of Two Remineralizing Agents after Modification by Chitosan Nano Particles: An In vitro Study.

Author

Wahied DM, Ezzeldin N, Abdelnabi A, Othman MS, and El Rahman MHA

Abstract

Background: Calcium phosphate-based systems have been introduced as promising bio-mimetic materials due to their close resemblance to the enamel. Chitosan and its derivatives have been an emerging biomaterial due to their additional antibacterial effect and promising re-mineralizing ability., Aim: The aim of this study is to evaluate the effect of chitosan nanoparticles on the remineralization of the demineralized enamel surface after being added to nano-hydroxyapatite and nano-calcium phosphate materials., Setting and Design: This was in vitro study., Materials and Methods: Twenty specimens of extracted permanent molars were collected, and then immersed in demineralizing solution, then distributed into four groups according to the remineralizing material. Group 1: Treated with Nano-beta-tricalcium phosphate (Nβ-TCP) gel, Group 2: Treated with Nβ-TCP with chitosan gel, Group 3: Treated with Nanohydroxyapatite (NHA) gel, and Group 4: Treated with NHA with chitosan gel. The surface hardness of the teeth was measured at baseline, after demineralization, and after remineralization. The structural changes in each group were analyzed using the scanning electron microscopy., Statistical Analysis: Shapiro-Wilk's test, one-way ANOVA followed by Tukey's post hoc test was used., Results: In all groups, there was a significant difference in mean Vickers hardness number (VHN) at different intervals, with the highest value found after treatment (301.64-395.65) VHN, followed by the baseline (236.97-276.15) VHN, while the lowest value was detected after demineralization (121.23-124.39) VHN. It was also indicated that baseline treatment, the Hardness percentage change (%) of the nano NHA + Chitosan group showed the highest significant value (55.10%), while the Nβ-TCP group exhibited the lowest significant value (9.56%)., Conclusions: It can be concluded that NHA and NΒ-TCP modified by chitosan NPs as remineralizing agents of enamel surface hold promising results., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Contemporary Clinical Dentistry.)

Published
2023
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