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Article: Children's Oral Health Status Among Urban and Rural Areas of Qassim Region, Saudi Arabia: A Cross-Sectional Study.

Alhudaithi, Abdullah S / Alsughier, Zeyad / Alzaidan, Hamad / Aldhelai, Thiyezen A

2023 Volume 15, Issue 10, Page(s) e47947

Abstract: Background: Dental caries is a disease that is quite common in children and has a negative impact on their oral health, mental health, and quality of life. This study aimed to collect and correlate information about oral health awareness, oral health ... ...

Abstract	Background: Dental caries is a disease that is quite common in children and has a negative impact on their oral health, mental health, and quality of life. This study aimed to collect and correlate information about oral health awareness, oral health status, and oral hygiene practices in the urban and rural areas of Saudi Arabia. Methods: The cross-sectional study was carried out among three dental clusters of Qassim from November 2022 to April 2023 in 12 schools on seven- to 12-year-old children. Data collection was done using the WHO Oral Health Questionnaire for Children. Results: The current investigation included 700 children, 360 males and 340 females. Both urban and rural parents were more educated. Most children in rural areas reported excellent gum health than in urban areas (48.2% and 41.3%, respectively). Pain was the most common cause of visiting the dentist in rural more than in urban areas (55.7% and 54.5%, respectively). A significantly higher frequency of sugar consumption was reported for rural children. Conclusion: Most rural and urban children take care of their teeth. The vast majority of them use a toothbrush and toothpaste to clean their teeth. However, the dental visit was not regular and only related to the toothache. They need more oral health education and promotion programs to improve the knowledge of oral health behavior in the Qassim region and the rest of Saudi Arabia.
Language	English
Publishing date	2023-10-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.47947
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Article ; Online: PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis

Shamseldin, Hanan E. / Derar, Nada / Alzaidan, Hamad / AlHathal, Naif / Alfalah, Abdullah / Abdulwahab, Firdous / Alzaid, Tariq / Alkeraye, Salim / Alobaida, Saud A. / Alkuraya, Fowzan S.

Hum Genet. 2023 Apr., v. 142, no. 4 p.477-482

2023

Abstract: Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed ... ...

Abstract	Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.
Keywords	histopathology ; homozygosity ; humans ; ichthyosis ; knockout mutants ; loci ; phenotype
Language	English
Dates of publication	2023-04
Size	p. 477-482.
Publishing place	Springer Berlin Heidelberg
Document type	Article ; Online
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-023-02527-3
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Article: Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.

Alghamdi, Malak A / Tohary, Mohammed / Alzaidan, Hamad / Imtiaz, Faiqa / Al-Hassnan, Zuhair N

JIMD reports

2021 Volume 62, Issue 1, Page(s) 91–96

Abstract: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis. Analysis of longitudinal data in such an ultra-rare disease is warranted to delineate genotype- ... ...

Abstract	Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis. Analysis of longitudinal data in such an ultra-rare disease is warranted to delineate genotype-phenotype correlations and management outcome. A retrospective analysis of 17 patients, from nine unrelated families, with SCOT deficiency who were followed up in the Medical Genetics Clinic at King Faisal Specialist Hospital and Research Centre was conducted. All the patients were homozygous for p.R468C in
Language	English
Publishing date	2021-09-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12248
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Article ; Online: PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Shamseldin, Hanan E / Derar, Nada / Alzaidan, Hamad / AlHathal, Naif / Alfalah, Abdullah / Abdulwahab, Firdous / Alzaid, Tariq / Alkeraye, Salim / Alobaida, Saud A / Alkuraya, Fowzan S

Human genetics

2023 Volume 142, Issue 4, Page(s) 477–482

Abstract	Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.
MeSH term(s)	Animals ; Humans ; Mice ; Ichthyosis/genetics ; Mice, Knockout ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Serine Endopeptidases/genetics
Chemical Substances	prostasin (EC 3.4.21.-) ; Serine Endopeptidases (EC 3.4.21.-)
Language	English
Publishing date	2023-01-30
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-023-02527-3
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Article: Novel pathogenic

Al-Hamed, Mohamed H / Alzaidan, Hamad / Hussein, Maged / Albaik, Lina / Qari, Alya / Sayer, John A / Imtiaz, Faiqa

Clinical kidney journal

2020 Volume 14, Issue 2, Page(s) 728–730

Language	English
Publishing date	2020-06-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2655800-2
ISSN	2048-8513 ; 2048-8505
ISSN (online)	2048-8513
ISSN	2048-8505
DOI	10.1093/ckj/sfaa090
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Article ; Online: COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Altassan, Ruqaiah / Sulaiman, Raashda A / Alfalah, Abdullah / Alwagiat, Waad / Megdad, Eman / Alqasabi, Dana / Handoom, Bedour / Almesned, Munirah / Al-Amri, Hassan / Alhassnan, Zuhair / Alsayed, Moeen-Aldeen / Alzaidan, Hamad / Rahbeeni, Zuhair / Derar, Nada / Al-Owain, Mohammed / Albanyan, Esam

European journal of medical genetics

2022 Volume 65, Issue 11, Page(s) 104602

Abstract: Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of ... ...

Abstract	Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.
MeSH term(s)	Acute Disease ; Adolescent ; Adult ; COVID-19/complications ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Male ; Metabolic Diseases/complications ; Metabolic Diseases/epidemiology ; Pancreatitis/complications ; Pandemics ; Retrospective Studies ; SARS-CoV-2 ; Young Adult
Language	English
Publishing date	2022-08-30
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2022.104602
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Article ; Online: AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Terhal, Paulien / Venhuizen, Anton J / Lessel, Davor / Tan, Wen-Hann / Alswaid, Abdulrahman / Grün, Regina / Alzaidan, Hamad I / von Kroge, Simon / Ragab, Nada / Hempel, Maja / Kubisch, Christian / Novais, Eduardo / Cristobal, Alba / Tripolszki, Kornelia / Bauer, Peter / Fischer-Zirnsak, Björn / Nievelstein, Rutger A J / van Dijk, Atty / Nikkels, Peter /

Oheim, Ralf / Hahn, Heidi / Bertoli-Avella, Aida / Maurice, Madelon M / Kornak, Uwe

American journal of human genetics

2023 Volume 110, Issue 9, Page(s) 1470–1481

Abstract: Sclerosing skeletal dysplasias result from an imbalance between bone formation and resorption. We identified three homozygous, C-terminally truncating AXIN1 variants in seven individuals from four families affected by macrocephaly, cranial hyperostosis, ... ...

Abstract	Sclerosing skeletal dysplasias result from an imbalance between bone formation and resorption. We identified three homozygous, C-terminally truncating AXIN1 variants in seven individuals from four families affected by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings included hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. In line with AXIN1 being a central component of the β-catenin destruction complex, analyses of primary and genome-edited cells harboring the truncating variants revealed enhanced basal canonical Wnt pathway activity. All three AXIN1-truncating variants resulted in reduced protein levels and impaired AXIN1 polymerization mediated by its C-terminal DIX domain but partially retained Wnt-inhibitory function upon overexpression. Addition of a tankyrase inhibitor attenuated Wnt overactivity in the AXIN1-mutant model systems. Our data suggest that AXIN1 coordinates the action of osteoblasts and osteoclasts and that tankyrase inhibitors can attenuate the effects of AXIN1 hypomorphic variants.
MeSH term(s)	Humans ; Tankyrases/genetics ; Tankyrases/metabolism ; Hip Dislocation ; Axin Protein/genetics ; Axin Protein/metabolism ; Wnt Signaling Pathway/genetics ; Osteosclerosis/genetics ; beta Catenin/metabolism
Chemical Substances	Tankyrases (EC 2.4.2.30) ; Axin Protein ; beta Catenin ; AXIN1 protein, human
Language	English
Publishing date	2023-08-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2023.07.011
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Article ; Online: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Averdunk, Luisa / Sticht, Heinrich / Surowy, Harald / Lüdecke, Hermann-Josef / Koch-Hogrebe, Margarete / Alsaif, Hessa S / Kahrizi, Kimia / Alzaidan, Hamad / Alawam, Bashayer S / Tohary, Mohamed / Kraus, Cornelia / Endele, Sabine / Wadman, Erin / Kaplan, Julie D / Efthymiou, Stephanie / Najmabadi, Hossein / Reis, André / Alkuraya, Fowzan S / Wieczorek, Dagmar

Journal of molecular medicine (Berlin, Germany)

2021 Volume 99, Issue 12, Page(s) 1755–1768

Abstract: Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. ...

Abstract	Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRS
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mutation, Missense ; Neurodevelopmental Disorders/genetics ; Phenotype ; Protein Conformation ; Tyrosine-tRNA Ligase/chemistry ; Tyrosine-tRNA Ligase/genetics ; Exome Sequencing
Chemical Substances	Tyrosine-tRNA Ligase (EC 6.1.1.1)
Language	English
Publishing date	2021-09-18
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1223802-8
ISSN	1432-1440 ; 0946-2716
ISSN (online)	1432-1440
ISSN	0946-2716
DOI	10.1007/s00109-021-02124-9
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Article ; Online: Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal of molecular medicine (Berlin, Germany)

2021 Volume 99, Issue 12, Page(s) 1769–1770

Language	English
Publishing date	2021-10-18
Publishing country	Germany
Document type	Published Erratum
ZDB-ID	1223802-8
ISSN	1432-1440 ; 0946-2716
ISSN (online)	1432-1440
ISSN	0946-2716
DOI	10.1007/s00109-021-02153-4
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Article: The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan, Zuhair N / Khalifa, Ola A / Bubshait, Dalal K / Tulbah, Sahar / Alkorashy, Maarab / Alzaidan, Hamad / Alowain, Mohammed / Rahbeeni, Zuhair / Al-Sayed, Moeen

Molecular genetics and metabolism reports

2018 Volume 15, Page(s) 50–54

Abstract: Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded ... ...

Abstract	Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidase encoded by
Language	English
Publishing date	2018-02-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2018.02.001
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