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Article: Role of Adenotonsillectomy and Tonsillectomy in Children with Down Syndrome Who Develop Obstructive Sleep Apnea by Obesity as a Risk Factor.

Ali Khan, Imran

2022 Volume 2022, Page(s) 8074094

Abstract: Down syndrome (DS) or trisomy 21 is caused due to the presence of additional chromosome 21 in humans. DS can exist either as free trisomy 21 (nondisjunction), Robertsonian translocated DS, or as mosaic DS. Obstructive sleep apnea (OSA) is a complex ... ...

Abstract	Down syndrome (DS) or trisomy 21 is caused due to the presence of additional chromosome 21 in humans. DS can exist either as free trisomy 21 (nondisjunction), Robertsonian translocated DS, or as mosaic DS. Obstructive sleep apnea (OSA) is a complex condition with serious health implications for pediatric individuals with DS. OSA is common in DS, and when it is present, it appears to be extreme. Obesity and snoring are some of the OSA risk factors for children associated with DS and OSA. Adenotonsillectomy is one of the surgical protocols applied in children, which is useful in lowering the OSA in which obesity is commonly connected within normal and DS children. Tonsillectomy is the alternative procedure of surgery connected with postoperative respiratory complications, and adenotonsillectomy was found to be a safe surgical method in children and improves the quality of life. The main aim of this review is to bridge the gap between the role of OSA in normal children (46, XX/XY) and DS children (47, XX/XY+21) characterized by the presence of chromosomes and exactly what is the involvement with adenotonsillectomy and tonsillectomy when obesity is a risk factor. The treatment for OSA and obesity is rehabilitative and reversible; however, DS can be managed but not resolved because the disorder occurs from the existence of an extra chromosome during the failure of homologous chromosomal pairing separation during maternal meiosis I. This review concludes that there is a treatment for OSA and obesity and that DS children can be prevented from being obese or experiencing OSA but cannot be turned to normal chromosomes due to an extra trisomy 21. According to this review, children with DS and OSA/OSAS, as well as concomitant complications, can be treated.
Language	English
Publishing date	2022-05-06
Publishing country	Egypt
Document type	Journal Article ; Review
ZDB-ID	2495026-9
ISSN	1687-9759 ; 1687-9740
ISSN (online)	1687-9759
ISSN	1687-9740
DOI	10.1155/2022/8074094
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Ali Khan, Imran

Heliyon

2021 Volume 7, Issue 9, Page(s) e07903

Abstract: Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in infants. NDM occurs due to a single-gene mutation in neonates. A common source for developing NDM in an infant is the existence of mutations/variants in ... ...

Abstract	Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in infants. NDM occurs due to a single-gene mutation in neonates. A common source for developing NDM in an infant is the existence of mutations/variants in the
Language	English
Publishing date	2021-08-30
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2835763-2
ISSN	2405-8440
ISSN	2405-8440
DOI	10.1016/j.heliyon.2021.e07903
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Article ; Online: Molecular Effect of Variants in Toll-like Receptor 4 Gene in Saudi Patients with Type 2 Diabetes Mellitus.

Alkudmani, Zeina S / Alshammary, Amal F / Ali Khan, Imran

Cells

2023 Volume 12, Issue 19

Abstract: Single-nucleotide polymorphisms (SNPs) in the Toll-like receptor 4 ( ...

Abstract	Single-nucleotide polymorphisms (SNPs) in the Toll-like receptor 4 (
MeSH term(s)	Humans ; Toll-Like Receptor 4/genetics ; Genetic Predisposition to Disease ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/complications ; Saudi Arabia ; Alleles
Chemical Substances	Toll-Like Receptor 4
Language	English
Publishing date	2023-09-23
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12192340
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Article: Molecular role of non-exonic variants in

Alageel, Arwa A / Alshammary, Amal F / Ali Khan, Imran

Frontiers in endocrinology

2023 Volume 14, Page(s) 1303747

Abstract: Introduction: Non-diabetic women with polycystic ovarian syndrome (PCOS) often have abnormal insulin regulation. Calpain 10 (CALP10) is a biomarker of type 2 diabetes mellitus, with some of its single-nucleotide polymorphisms (SNPs) influencing PCOS ... ...

Abstract	Introduction: Non-diabetic women with polycystic ovarian syndrome (PCOS) often have abnormal insulin regulation. Calpain 10 (CALP10) is a biomarker of type 2 diabetes mellitus, with some of its single-nucleotide polymorphisms (SNPs) influencing PCOS development. Methods: In this case-control study on 90 women each with and without PCOS, we explored the molecular role of five CALP10 SNPs using biochemical parameters and Sanger sequencing analyses. Results: Different genetic models, genotypes, and allele frequencies were significantly associated with UCSNP-19 (rs3842570; p=0.01), UCSNP-44 (rs2975760; p=0.009), UCSNP-56 (rs2975762; p<0.0001), and UCSNP-63 (rs5030952; p=0.0003) in women with PCOS. The multiple logistic regression model showed a strong association of CALP10 SNPs with fasting blood glucose (p<0.001). ANOVA showed significant associations with various biochemical parameters such as FSH (p=0.0001) in UCSNP-19 (rs3842570), FI (p=0.002), TG (p=0.01) in UCSNP-56 (rs2975762) and FBG (p=0.001), FI (p=0.004), FSH (p=0.02) & LDLc (p=0.04) in UCSNP-63 (rs5030952) SNPs. Haplotype analysis also revealed significant associations between different combinations of alleles in the studied 5 SNPs in women with PCOS (p<0.05). Generalized multifactor dimensionality reduction analysis showed the best gene-gene interactions among the five SNPs in CALP10I (p<0.05). However, dendrogram and graphical depletion models found no strong association in women with PCOS. Conclusion: In conclusion, this study confirms rs3842570, rs2975760, rs2975767, and rs5030952 SNPs in CALP10 gene is associated in diagnosed PCOS women in the Saudi Arabia.
MeSH term(s)	Humans ; Female ; Polycystic Ovary Syndrome/genetics ; Diabetes Mellitus, Type 2 ; Case-Control Studies ; Saudi Arabia/epidemiology ; Follicle Stimulating Hormone ; Calpain
Chemical Substances	calpain 10 (EC 3.4.22.-) ; Follicle Stimulating Hormone (9002-68-0) ; Calpain (EC 3.4.22.-)
Language	English
Publishing date	2023-12-27
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2023.1303747
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Article ; Online: Saudi Community-Based Screening Study on Genetic Variants in

Alshammary, Amal F / Al-Hakeem, Malak Mohammed / Ali Khan, Imran

Genes

2023 Volume 14, Issue 4

Abstract: Background: Diabetes (hyperglycemia) is defined as a multifactorial metabolic disorder in which insulin resistance and defects in pancreatic β-cell dysfunction are two major pathophysiologic abnormalities that underpin towards gestational diabetes ... ...

Abstract	Background: Diabetes (hyperglycemia) is defined as a multifactorial metabolic disorder in which insulin resistance and defects in pancreatic β-cell dysfunction are two major pathophysiologic abnormalities that underpin towards gestational diabetes mellitus (GDM). Materials and methods: In this case-control study, 100 women with GDM and 100 healthy volunteers (non-GDM) were recruited. Genotyping was performed using polymerase chain reaction (PCR), followed by restriction fragment length analysis. Validation was performed using Sanger sequencing. Statistical analyses were performed using multiple software packages. Results: Clinical studies showed a β-cell dysfunction positive association in women with GDM when compared to non-GDM women ( Conclusions: This study confirms that the SNPs rs7903146 (
MeSH term(s)	Pregnancy ; Humans ; Female ; Diabetes, Gestational/genetics ; Diabetes Mellitus, Type 2/genetics ; Case-Control Studies ; Saudi Arabia ; Polymorphism, Single Nucleotide
Language	English
Publishing date	2023-04-16
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14040924
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Article ; Online: A conceptual model of factors associated with health-related quality of life in men and women with knee osteoarthritis in Riyadh, Saudi Arabia: A multicenter cross-sectional study.

Vennu, Vishal / Alshammary, Amal F / Farzan, Raed / Ali Khan, Imran

Medicine

2023 Volume 102, Issue 30, Page(s) e34175

Abstract: This study used a conceptual model to examine the factors influencing physical, mental, and overall health-related quality of life (HRQoL) in women and men aged 45 and older with knee osteoarthritis (KOA) in Saudi Arabia. In this multicenter cross- ... ...

Abstract	This study used a conceptual model to examine the factors influencing physical, mental, and overall health-related quality of life (HRQoL) in women and men aged 45 and older with knee osteoarthritis (KOA) in Saudi Arabia. In this multicenter cross-sectional study, we randomly included 356 individuals aged 45 years or above with doctor-confirmed KOA from the orthopedic and physiotherapy departments of the 5 tertiary hospitals in Riyadh, Saudi Arabia, between March 2016 and March 2017. We split all participants into men (n = 146) and women (n = 210) based on gender. A conceptual model was developed using the HRQoL influential potential factors, such as age, sex, education, occupation, and way of eating (sociodemographic), and clinical factors, such as osteoarthritis knee and its severity, duration, pain, and body mass index. The 36-item short form health survey and its subscales of the physical composite scale and mental composite scale were used to evaluate overall HRQoL, physical, and mental health, respectively. We used unadjusted multiple linear regression analyses to investigate the associations between gender-specific potential factors and HRQoL outcomes. Women and men aged between 60 and 64 years were more strongly associated significantly with less physical composite scale score by -3.17, (standard error [SE] = 1.71, P = .021) and -3.18 (SE = 1.69, P = .023) respectively, followed by the primary school or less education by -3.40 (SE = 1.27, P = .0002), severe KOA of -8.94 (SE = 0.99, P < .001), eating on the floor bending the knee of -3.93 (SE = 1.63, P = .042), and pain of -2.39 (SE = 0.26, P < .0001). Women and men with primary school or less education significantly had low mental composite scale and 36-item short form health survey scores of -3.07 (SE = 1.22, P = .041) and -3.23 (SE = 0.99, P = .018), respectively, followed by severe KOA of -4.07 (SE = 1.22, P = .001) and -6.50 (SE = 0.83, P < .0001) and eating on the floor, extending the knee at -3.35 (SE = 1.74, P = .043). Risk factors like age, education, pain, body mass index, and severe KOA are linked to poor physical, mental, and overall HRQoL among women and men in Saudi Arabia.
MeSH term(s)	Male ; Humans ; Female ; Middle Aged ; Osteoarthritis, Knee/epidemiology ; Osteoarthritis, Knee/etiology ; Quality of Life ; Cross-Sectional Studies ; Saudi Arabia/epidemiology ; Pain/etiology
Language	English
Publishing date	2023-07-27
Publishing country	United States
Document type	Multicenter Study ; Journal Article
ZDB-ID	80184-7
ISSN	1536-5964 ; 0025-7974
ISSN (online)	1536-5964
ISSN	0025-7974
DOI	10.1097/MD.0000000000034175
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Article ; Online: Evaluation of

Saif, Ghada A Bin / Alshammary, Amal F / Ali Khan, Imran

Medicina (Kaunas, Lithuania)

2023 Volume 59, Issue 4

Abstract: Background and ... ...

Abstract	Background and Objectives
MeSH term(s)	Humans ; Vitiligo/epidemiology ; Vitiligo/genetics ; Catalase/genetics ; Saudi Arabia/epidemiology ; Case-Control Studies ; Genotype ; Genetic Predisposition to Disease/genetics
Chemical Substances	Catalase (EC 1.11.1.6)
Language	English
Publishing date	2023-04-04
Publishing country	Switzerland
Document type	Meta-Analysis ; Journal Article
ZDB-ID	2188113-3
ISSN	1648-9144 ; 1010-660X
ISSN (online)	1648-9144
ISSN	1010-660X
DOI	10.3390/medicina59040708
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Article ; Online: Saudi Community-Based Screening Study on Genetic Variants in β-Cell Dysfunction and Its Role in Women with Gestational Diabetes Mellitus

Alshammary, Amal F. / Al-Hakeem, Malak Mohammed / Ali Khan, Imran

Genes (Basel). 2023 Apr. 16, v. 14, no. 4

2023

Abstract	Background: Diabetes (hyperglycemia) is defined as a multifactorial metabolic disorder in which insulin resistance and defects in pancreatic β-cell dysfunction are two major pathophysiologic abnormalities that underpin towards gestational diabetes mellitus (GDM). TCF7L2, KCNQ1, and KCNJ11 genes are connected to the mechanism of β-cell dysfunction. The purpose of this study was to investigate the genes associated with β-cell dysfunction and their genetic roles in the rs7903146, rs2237892, and rs5219 variants in Saudi women diagnosed with type 2 diabetes mellitus and GDM. Materials and Methods: In this case-control study, 100 women with GDM and 100 healthy volunteers (non-GDM) were recruited. Genotyping was performed using polymerase chain reaction (PCR), followed by restriction fragment length analysis. Validation was performed using Sanger sequencing. Statistical analyses were performed using multiple software packages. Results: Clinical studies showed a β-cell dysfunction positive association in women with GDM when compared to non-GDM women (p < 0.05). Both rs7903146 (CT vs. CC: OR-2.12 [95%CI: 1.13–3.96]; p = 0.01 & T vs. C: (OR-2.03 [95%CI: 1.32–3.11]; p = 0.001) and rs5219 SNPs (AG vs. AA: OR-3.37 [95%CI: 1.63–6.95]; p = 0.0006 & G vs. A: OR-3.03 [95%CI: 1.66–5.52]; p = 0.0001) showed a positive association with genotype and allele frequencies in women with GDM. ANOVA analysis confirmed that weight (p = 0.02), BMI (p = 0.01), and PPBG (p = 0.003) were associated with rs7903146 and BMI (p = 0.03) was associated with rs2237892 SNPs. Conclusions: This study confirms that the SNPs rs7903146 (TCF7L2) and rs5219 (KCNJ11) are strongly associated with GDM in the Saudi population. Future studies should address the limitations of this study.
Keywords	alleles ; case-control studies ; computer software ; genotype ; genotyping ; gestational diabetes ; hyperglycemia ; insulin resistance ; noninsulin-dependent diabetes mellitus ; pathophysiology ; polymerase chain reaction
Language	English
Dates of publication	2023-0416
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14040924
Database	NAL-Catalogue (AGRICOLA)

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Article: Evidence from genetic studies among rs2107538 variant in the

Alshammary, Amal F / Alshammari, Abdulrahman M / Alsobaie, Sarah F / Alageel, Arwa A / Ali Khan, Imran

Saudi journal of biological sciences

2023 Volume 30, Issue 6, Page(s) 103658

Abstract: Type 2 diabetes mellitus (T2DM) is a chronic and metabolic disorder that affects the adult population. Chemokines are proinflammatory cytokines that play a role in the development of chronic diseases such as obesity, gestational diabetes, and T2DM. The C- ...

Abstract	Type 2 diabetes mellitus (T2DM) is a chronic and metabolic disorder that affects the adult population. Chemokines are proinflammatory cytokines that play a role in the development of chronic diseases such as obesity, gestational diabetes, and T2DM. The C-C Motif Chemokine Ligand 5 (
Language	English
Publishing date	2023-04-23
Publishing country	Saudi Arabia
Document type	Journal Article
ZDB-ID	2515206-3
ISSN	2213-7106 ; 1319-562X
ISSN (online)	2213-7106
ISSN	1319-562X
DOI	10.1016/j.sjbs.2023.103658
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Article: Examining the Genetic Role of rs8192675 Variant in Saudi Women Diagnosed with Polycystic Ovary Syndrome.

Alsobaie, Sarah / Alageel, Arwa A / Ishfaq, Tahira / Ali Khan, Imran / Alharbi, Khalid Khalaf

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 20

Abstract: Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. ... ...

Abstract	Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. The
Language	English
Publishing date	2023-10-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13203214
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