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Article: Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Al Masseri, Zainab / AlSayed, Moeenaldeen

Molecular genetics and metabolism reports

2022 Volume 31, Page(s) 100864

Abstract: Background: GNAO1: Materials and methods: We recruited and retrospectively reviewed five patients from two families seen at King Faisal Specialist Hospital and Research Centre in Riyadh (KFSHRC).: Results: All patients presented with severe ... ...

Abstract	Background: GNAO1 Materials and methods: We recruited and retrospectively reviewed five patients from two families seen at King Faisal Specialist Hospital and Research Centre in Riyadh (KFSHRC). Results: All patients presented with severe neurodevelopmental disorder, followed by progressive dystonia and hyperkinetic movements. In addition, none of the patients had seizures which was consistent with NEDIM phenotype. The specific diagnosis was not clinically entertained and was only found on whole exome sequencing (WES), which identified two variants (c.724-8G > A & c.709G > A). Both variants were previously reported as pathogenic de novo in patients with NEDIM, and one was reported as parental gonadal mosaicism. Conclusion: We report these variants as additional variants in
Language	English
Publishing date	2022-04-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2022.100864
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Article ; Online: Lymphatic Chyle Duct Injury and Identification During Laparoscopic Sleeve Gastrectomy Preventing Postoperative Chylous Ascites.

Abokhozima, Ahmed / Zidan, Mohamed H / Abo Elmagd, Ahmed / Alokl, Mohammed / Altabbaa, Hashem / Al Sayed, Mohamed / Selim, Aliaa

Obesity surgery

2024 Volume 34, Issue 5, Page(s) 1995–2000

Abstract: We present a case of intraoperative detection of an iatrogenic chyle duct injury during laparoscopic sleeve gastrectomy. The chyle duct injury was identified and managed by ligature, preventing postoperative chylous ascites. ...

Abstract	We present a case of intraoperative detection of an iatrogenic chyle duct injury during laparoscopic sleeve gastrectomy. The chyle duct injury was identified and managed by ligature, preventing postoperative chylous ascites.
MeSH term(s)	Humans ; Chylous Ascites/etiology ; Chylous Ascites/prevention & control ; Chyle ; Obesity, Morbid/surgery ; Laparoscopy/adverse effects ; Gastrectomy/adverse effects
Language	English
Publishing date	2024-04-08
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1070827-3
ISSN	1708-0428 ; 0960-8923
ISSN (online)	1708-0428
ISSN	0960-8923
DOI	10.1007/s11695-024-07215-3
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Zs.A 3381: Show issues

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Article ; Online: Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

Balobaid, Ameera / Imtiaz, Faiqa / Ramzan, Khushnooda / Afzal, Sibtain / AlSayed, Moeenaldeen

Genetic testing and molecular biomarkers

2023 Volume 27, Issue 5, Page(s) 142–148

Abstract: Background: ...

Abstract	Background:
MeSH term(s)	Infant, Newborn ; Pregnancy ; Female ; Humans ; Phenylalanine Hydroxylase/genetics ; Phenylalanine Hydroxylase/therapeutic use ; Saudi Arabia ; Genotype ; Phenotype ; Phenylketonurias/genetics ; Phenylketonurias/diagnosis ; Phenylketonurias/drug therapy ; Mutation/genetics ; Alleles
Chemical Substances	Phenylalanine Hydroxylase (EC 1.14.16.1)
Language	English
Publishing date	2023-04-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	2486664-7
ISSN	1945-0257 ; 1945-0265
ISSN (online)	1945-0257
ISSN	1945-0265
DOI	10.1089/gtmb.2022.0218
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Zs.A 5195: Show issues

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Article ; Online: Knowledge and attitudes regarding non-invasive prenatal testing among women in Saudi Arabia.

Bawazeer, Shahad / AlSayed, Moeenaldeen / Kurdi, Wesam / Balobaid, Ameera

Prenatal diagnosis

2021 Volume 41, Issue 10, Page(s) 1343–1350

Abstract: Objectives: To explore women's knowledge and attitudes regarding NIPT, its implications, the factors affecting their decision to undergo the test and actions taken following a positive result.: Methods: In this descriptive study, women who were ... ...

Abstract	Objectives: To explore women's knowledge and attitudes regarding NIPT, its implications, the factors affecting their decision to undergo the test and actions taken following a positive result. Methods: In this descriptive study, women who were offered NIPT through the foetal maternal clinic, were asked to complete an anonymous questionnaire about NIPT. The questionnaire consisted of 29 statements and covered four areas: demographics, knowledge, attitudes and decision-making. Results: A total of 150 women who were offered NIPT participated in this study. The results showed that generally women had poor knowledge of critical aspects of NIPT. This included the conditions tested for, the implications of the test and its limitations. Over 90% of women were in favour of NIPT and it being offered to all women of advanced maternal age while 66% of the tested women agreed to having confirmatory invasive testing in the case of a positive result. Conclusion: This study shows that the acceptance rate for NIPT is high despite incomplete understanding of the benefits and limitations of the test. The study findings support the need for education regarding this test through dedicated genetic counselling sessions in order to ensure that an informed decision can be made.
MeSH term(s)	Adolescent ; Adult ; Decision Making ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Middle Aged ; Noninvasive Prenatal Testing/methods ; Noninvasive Prenatal Testing/standards ; Saudi Arabia ; Surveys and Questionnaires
Language	English
Publishing date	2021-06-27
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.5991
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Zs.A 1625: Show issues

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Article: Dialysis Access-Associated Steal Syndrome in High-Risk Patients Undergoing Surgery for Hemodialysis Access: A Systematic Review and Meta-Analysis of Preventive Operative Techniques.

Alqahtani, Saeed S / Aljaber, Fahad K / Alsuwailem, Bader Y / AlMashouq, Yazeed A / AlHarbi, Bander G / Elawad, AlSayed M

Cureus

2023 Volume 15, Issue 11, Page(s) e49612

Abstract: This systematic review and meta-analysis examine preventive operative techniques in high-risk patients undergoing surgery for hemodialysis access to mitigate the risk of Dialysis Access-Associated Steal Syndrome (DASS). Chronic kidney disease often leads ...

Abstract	This systematic review and meta-analysis examine preventive operative techniques in high-risk patients undergoing surgery for hemodialysis access to mitigate the risk of Dialysis Access-Associated Steal Syndrome (DASS). Chronic kidney disease often leads to end-stage renal disease (ESRD), necessitating dialysis. Successful vascular access is crucial for efficient dialysis, but complications, such as DASS, pose significant challenges. DASS redirects arterial blood flow, affecting populations undergoing arteriovenous access surgery. This study aims to assess preventive strategies, including distal revascularization with interval ligation (DRIL) and extension techniques. A systematic search of PubMed, Cochrane Library, EMBASE, and Web of Science until 2022 identified 11 relevant studies. The inclusion criteria comprised non-pediatric hemodialysis patients reporting outcomes related to patency and complications. The data were analyzed using Review Manager 5.3.5 (The Nordic Cochrane Centre, The Cochrane Collaboration, Copenhagen). Meta-analysis indicated a significant association between DASS and arteriovenous fistula (AVF) or arteriovenous graft (AVG) procedures. Radiocephalic AVF (RC-AVF) and distal endovascular AVF procedures were favored. Various interventions addressed venous narrowing, including simple plication and loop interposition. The Modified by Inserted Latex Link for Endovascular Repair (MILLER) technique, DRIL, Extension Technique, and Proximalization of Arterial Inflow (PAI) were assessed for arterial bypass graft and blood supply preservation. This study underscores the importance of individualized strategies in preventing DASS during hemodialysis access surgery. Prophylactic measures, such as the extension technique, show promise, while DRIL remains effective in treatment. Ongoing research is imperative for optimizing outcomes in this complex patient population.
Language	English
Publishing date	2023-11-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.49612
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Article ; Online: The role of percutaneous ultrasound-guided true-cut needle biopsy in patients with sheet-like pleural thickening

Al Sayed M Tealeb / Mohamad S Shehata / Ismail M Alwakil

Al-Azhar Assiut Medical Journal, Vol 17, Iss 4, Pp 331-

2019 Volume 338

Abstract: Background Pleural biopsy for histological confirmation is the standard diagnostic procedure for pleural diseases. Aim To identify the role of percutaneous ultrasound (US)-guided true-cut needle biopsy in patients with sheet-like pleural thickening. ... ...

Abstract	Background Pleural biopsy for histological confirmation is the standard diagnostic procedure for pleural diseases. Aim To identify the role of percutaneous ultrasound (US)-guided true-cut needle biopsy in patients with sheet-like pleural thickening. Patients and methods A prospective interventional simple controlled trial was conducted on 60 patients with computed tomographic evidence of pleural thickening. Percutaneous US-guided pleural biopsies using a true-cut needle were performed for pathological tissue characterization; complications were recorded. Results All patients were diagnosed, with only five (8%) patients found to have self-limiting pneumothorax, with no need for a chest tube. Fifty-three percent of patients had a histopathological diagnosis of mesothelioma, 14% had a histopathological result of adenocarcinoma, whereas 33% had chronic fibrosing pleuritis. Conclusion The US-guided procedure has a major advantage as it is being real time, rapid, available bedside, and well tolerated, and no serious complications were observed in good case selection and procedure.
Keywords	closed pleural biopsy ; computed tomography ; medical thoracoscopy ; ultrasound ; Internal medicine ; RC31-1245
Subject code	610 ; 616
Language	English
Publishing date	2019-01-01T00:00:00Z
Publisher	Wolters Kluwer Medknow Publications
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Mucopolysaccharidoses: overview of neuroimaging manifestations.

Nicolas-Jilwan, Manal / AlSayed, Moeenaldeen

Pediatric radiology

2018 Volume 48, Issue 10, Page(s) 1503–1520

Abstract: The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual ... ...

Abstract	The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe. The skeletal and central nervous systems are particularly affected. The typical clinical presentation includes organomegaly, dysostosis multiplex with short trunk dwarfism, mental retardation and developmental delay. In this article, we review the neuroimaging manifestations of the different types of mucopolysaccharidoses including the dysostosis multiplex of the skull and spine as well as the various central nervous system complications. These include white matter injury, enlargement of the perivascular spaces, hydrocephalus, brain atrophy, characteristic enlargement of the subarachnoid spaces as well as compressive myelopathy. The correlation between several of the neuroimaging features and disease severity remains controversial, without well-established imaging biomarkers at this time. Imaging has, however, a crucial role in monitoring disease progression, in particular craniocervical junction stenosis, cord compression and hydrocephalus, because this allows for timely intervention before permanent damage occurs.
MeSH term(s)	Child ; Humans ; Mucopolysaccharidoses/diagnostic imaging ; Neuroimaging/methods
Language	English
Publishing date	2018-05-11
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	124459-0
ISSN	1432-1998 ; 0301-0449
ISSN (online)	1432-1998
ISSN	0301-0449
DOI	10.1007/s00247-018-4139-3
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Zs.A 927: Show issues

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Article ; Online: Drip Irrigation and Compost Applications Improved the Growth, Productivity, and Water Use Efficiency of Some Varieties of Bread Wheat

Alshallash, Khalid S. / Makled, Khaled M. / Saeed, Khldoon F. / Shehab, Abdesalam A. / Farouk, Al Sayed M. / Hamdy, Ashraf E.

Agronomy. 2022 Dec. 31, v. 13, no. 1

2022

Abstract: In hyper-arid and arid zones, management of crop water requirements is considered a vital component for sustaining crop production. The efficiency of the irrigation method and the application of many kinds of organic matter are practices that should be ... ...

Abstract	In hyper-arid and arid zones, management of crop water requirements is considered a vital component for sustaining crop production. The efficiency of the irrigation method and the application of many kinds of organic matter are practices that should be followed in Egypt to maximize the use of irrigation water. Two field experiments were conducted during the two successive winter seasons of 2020/2021 and 2021/2022 to study the effect of drip irrigation systems and of several types of compost on yield and yield attributes of four cultivars of wheat in newly reclaimed sandy soils. Studied factors were irrigation levels based on the amount of water evapotranspiration (ET) (I₁, I₂, I₃) and the application of compost types (Com₁, Com₂ and Com₃) on four bread wheat cultivars. The parameters measured at each irrigation level were: heading date (day), plant height (cm²), number of spikes/m², number of grains/spike, 1000-grain weight (g), grain yield (t/fed.), Biological yield (kg/fed.) and harvest index (%). The farmyard manure (Com₃) gave the maximum values under irrigation shortages, reflected in producing the maximum values for traits measured in the 2020/2021 season as compared to (Com₁) or (Com₂) applications, which scored lower values for the traits for the different cultivars for wheat. The interaction (I₁, I₂) × Com₃ × (Mis₁, Mis₂) led to a significant increase during both seasons for all the yield and yield components studied. A drip irrigation system at the level of 80% of ET and application of Com₃ is recommended to optimize wheat productivity from the unit area. The savings in water irrigation would allow expansion of the cultivated area to decrease the gap between local crop production and local requirements.
Keywords	agronomy ; animal manures ; composts ; cultivars ; cultivation area ; evapotranspiration ; grain yield ; harvest index ; irrigation rates ; irrigation water ; microirrigation ; organic matter ; plant height ; water use efficiency ; wheat ; Egypt
Language	English
Dates of publication	2022-1231
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2607043-1
ISSN	2073-4395
ISSN	2073-4395
DOI	10.3390/agronomy13010139
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: The neuroimaging findings of monocarboxylate transporter 1 deficiency.

Nicolas-Jilwan, Manal / Medlej, Rita / Sulaiman, Raashda A / AlSayed, Moeenaldeen

Neuroradiology

2020 Volume 62, Issue 7, Page(s) 891–894

Abstract: Monocarboxylate transporter 1 (MCT1) deficiency was first described in 2014 by Hasselt et al. as a novel genetic cause of recurrent ketoacidosis. Patients present in the first year of life with acute episodes of ketoacidosis triggered by fasting or ... ...

Abstract	Monocarboxylate transporter 1 (MCT1) deficiency was first described in 2014 by Hasselt et al. as a novel genetic cause of recurrent ketoacidosis. Patients present in the first year of life with acute episodes of ketoacidosis triggered by fasting or infections. Patients with homozygous mutations are known to have a more severe phenotype with mild to moderate developmental delay and an increased prevalence of epilepsy. There is only one recent report of the neuroimaging findings of this disorder as reported by Al-Khawaga et al. (Front Pediatr. 7:299, 2019). We report the neuroimaging abnormalities in two siblings with similar clinical presentation of recurrent ketoacidosis, seizures, and developmental delay. Whole exome sequencing in the younger sibling confirmed a known pathogenic homozygous mutation in MCT1, also known as SLC16A1 gene. Brain MRI showed a similar very distinctive pattern of signal abnormality at the gray-white matter junction, basal ganglia, and thalami in both patients. Both siblings had agenesis of the corpus callosum. Knowledge of this pattern of brain involvement might contribute to an earlier diagnosis and timely management of this rare and under recognized disorder.
MeSH term(s)	Brain Diseases/diagnostic imaging ; Brain Diseases/genetics ; Child, Preschool ; Consanguinity ; Developmental Disabilities/genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; Ketosis/genetics ; Monocarboxylic Acid Transporters/deficiency ; Neuroimaging/methods ; Seizures/genetics ; Siblings ; Symporters/deficiency
Chemical Substances	Monocarboxylic Acid Transporters ; Symporters ; monocarboxylate transport protein 1
Language	English
Publishing date	2020-04-21
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	123305-1
ISSN	1432-1920 ; 0028-3940
ISSN (online)	1432-1920
ISSN	0028-3940
DOI	10.1007/s00234-020-02435-7
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Zs.A 658: Show issues

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Article ; Online: Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Azribi, Fathi / Abdou, Ehab / Dawoud, Emad / Ashour, Mohamed / Kamal, Amgad / Al Sayed, Mohamed / Burney, Ikram

BMC cancer

2021 Volume 21, Issue 1, Page(s) 1350

Abstract: Background: Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of ... ...

Abstract	Background: Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region, we aim to describe the prevalence of BRCA1/BRCA2 PSVs in patients with OC across different countries in the Gulf region. Methods: The PREDICT study was an observational, prospective, epidemiological study, which consecutively recruited women with ovarian, primary peritoneal, and fallopian tube cancers from the following Gulf countries over the period from July 2017 to July 2019; United Arab Emirates (UAE), Kuwait, and Oman. The study was approved by the local ethics committee of participating centers. The BRCA1/BRCA2 PSVs were assessed by tissue genetic testing using next-generation sequencing (NGS). Results: A total of 105 women were included with a median age at diagnosis of 52 years (IQR 44.5 - 61.0). Nearly 11.4% of patients reported a family history of ovarian or breast cancer, while 4.7% of patients reported a family history of other cancers. Most of the patients (70.3%) had advanced disease (FIGO stage III/IV) at presentation. Eighty-eight patients (84%) were successfully tested for somatic BRCA1/BRCA2 PSVs. Fifteen patients (17%) were found to have PSVs in either BRCA1, BRCA2, or both genes; of them, 10 patients (11.2%) had BRCA1 somatic PSVs alone, eight patients (9.1%) had BRCA2 somatic PSVs, while three patients (2.9%) had both PSVs. Five patients with BRCA1/BRCA2 somatic PSVs had germline PSVs tests, and three of them tested positive. Concerning treatment, 87.6% of patients received perioperative chemotherapy and 6.6% as first-line palliative chemotherapy. Eighty-seven (82.9%) patients underwent debulking surgery, with no residual disease in 42.5% of patients. Conclusion: Our study showed that the prevalence of BRCA1/BRCA2 somatic PSVs in patients with OC is higher than the reported global figures (2-8%). However, more studies are warranted to further elucidate the prevalence of BRCA1/BRCA2 somatic and germline PSVs, as well as other relevant genetic alterations, to better understand their impact on OC patient outcomes in Gulf countries. Trial registration: NCT03082976 .
MeSH term(s)	Adult ; Aged ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Chemotherapy, Adjuvant ; Cross-Sectional Studies ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Genetic Testing/statistics & numerical data ; Germ-Line Mutation ; Humans ; Kuwait/epidemiology ; Middle Aged ; Neoadjuvant Therapy ; Oman/epidemiology ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/therapy ; Ovariectomy ; Ovary/pathology ; Ovary/surgery ; Prevalence ; Prospective Studies ; United Arab Emirates/epidemiology
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
Language	English
Publishing date	2021-12-20
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Observational Study
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-021-09094-8
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