10 results on '"Reem Hasnah"'
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2. Epidemiology, genetic landscape and classification of childhood diabetes mellitus in the State of Qatar
- Author
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Basma Haris, Saras Saraswathi, Sara Al‐Khawaga, Reem Hasnah, Amira Saeed, Shihab Mundekkadan, Noor Hamed, Houda Afyouni, Tasneem Abdel‐Karim, Shayma Mohammed, Amel Khalifa, Maryam Al‐Maadheed, Mahmoud Al‐Zyoud, Ahmed Shamekh, Ahmed Elawwa, Fawziya Al‐Khalaf, Sabri Boughorbel, Goran Petrovski, and Khalid Hussain
- Subjects
Epidemiology ,Pediatric diabetes ,Type 1 diabetes ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Abstract Aims/Introduction To study the epidemiology, genetic landscape and causes of childhood diabetes mellitus in the State of Qatar. Materials and methods All patients (aged 0–18 years) with diabetes mellitus underwent biochemical, immunological and genetic testing. American Diabetes Association guidelines were used to classify types of diabetes mellitus. The incidence and prevalence of all the different types of diabetes mellitus were calculated. Results Total number of children with diabetes mellitus was 1,325 (type 1 n = 1,096, ≥1 antibody; type 2 n = 104, type 1B n = 53; maturity onset diabetes of the young n = 20; monogenic autoimmune n = 4; neonatal diabetes mellitus n = 10;, syndromic diabetes mellitus n = 23; and double diabetes mellitus n = 15). The incidence and prevalence of type 1 diabetes were 38.05 and 249.73 per 100,000, respectively, and for type 2 were 2.51 and 23.7 per 100,000, respectively. The incidence of neonatal diabetes mellitus was 34.4 per 1,000,000 live births, and in indigenous Qataris the incidence was 43.6 per 1,000,000 live births. The prevalence of type 1 diabetes and type 2 diabetes in Qatari children was double compared with other nationalities. The prevalence of maturity onset diabetes of the young in Qatar was 4.56 per 100,000. Conclusions This is the first prospective and comprehensive study to document the epidemiology and genetic landscape of childhood diabetes mellitus in this region. Qatar has the fourth highest incidence of type 1 diabetes mellitus, with the incidence and prevalence being higher in Qatari compared with non‐Qatari. The prevalence of type 2 diabetes mellitus is also higher in Qatar than in Western countries. The incidence of neonatal diabetes mellitus is the second highest in the world. GCK is the most common form of maturity onset diabetes of the young, and a large number of patients have type 1B diabetes mellitus.
- Published
- 2021
- Full Text
- View/download PDF
3. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar
- Author
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Sara Al‐Khawaga, Idris Mohammed, Saras Saraswathi, Basma Haris, Reem Hasnah, Amira Saeed, Hakeem Almabrazi, Najeeb Syed, Puthen Jithesh, Ahmed El Awwa, Amal Khalifa, Fawziya AlKhalaf, Goran Petrovski, Essam M. Abdelalim, and Khalid Hussain
- Subjects
Fanconi–Bickel Syndrome (FBS) ,GCK ,HNF1B ,INS ,pancreatic agenesis ,Permanent neonatal diabetes (PNDM) ,Genetics ,QH426-470 - Abstract
Abstract Background Neonatal diabetes mellitus (NDM) is a rare condition that occurs within the first six months of life. Permanent NDM (PNDM) is caused by mutations in specific genes that are known for their expression at early and/or late stages of pancreatic beta‐ cell development, and are either involved in beta‐cell survival, insulin processing, regulation, and release. The native population in Qatar continues to practice consanguineous marriages that lead to a high level of homozygosity. To our knowledge, there is no previous report on the genomics of NDM among the Qatari population. The aims of the current study are to identify patients with NDM diagnosed between 2001 and 2016, and examine their clinical and genetic characteristics. Methods To calculate the incidence of PNDM, all patients with PNDM diagnosed between 2001 and 2016 were compared to the total number of live births over the 16‐year‐period. Whole Genome Sequencing (WGS) was used to investigate the genetic etiology in the PNDM cohort. Results PNDM was diagnosed in nine (n = 9) patients with an estimated incidence rate of 1:22,938 live births among the indigenous Qatari. Seven different mutations in six genes (PTF1A, GCK, SLC2A2, EIF2AK3, INS, and HNF1B) were identified. In the majority of cases, the genetic etiology was part of a previously identified autosomal recessive disorder. Two novel de novo mutations were identified in INS and HNF1B. Conclusion Qatar has the second highest reported incidence of PNDM worldwide. A majority of PNDM cases present as rare familial autosomal recessive disorders. Pancreas associated transcription factor 1a (PTF1A) enhancer deletions are the most common cause of PNDM in Qatar, with only a few previous cases reported in the literature.
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- 2019
- Full Text
- View/download PDF
4. A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency
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Sara Al-Khawaga, Jehan AlRayahi, Faiyaz Khan, Saras Saraswathi, Reem Hasnah, Basma Haris, Idris Mohammed, Essam M. Abdelalim, and Khalid Hussain
- Subjects
SLC16A1 ,MCT1 ,ketoacidosis ,hypoglycemia ,heterotopia ,white matter disease ,Pediatrics ,RJ1-570 - Abstract
The solute carrier family 16 member 1 (SLC16A1) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. Inactivating recessive homozygous or heterozygous mutations in the SLC16A1 gene were described in patients with recurrent ketoacidosis and hypoglycemia, a potentially lethal condition. In the brain where MCT1 is highly localized around axons and oligodendrocytes, glucose is the most crucial energy substrate while lactate is an alternative substrate. MCT1 mutation or reduced expression leads to neuronal loss due to axonal degeneration in an animal model. Herein, we describe a 28 months old female patient who presented with the first hypoglycemic attack associated with ketoacidosis starting at the age of 3 days old. Whole exome sequencing (WES) performed at 6 months of age revealed a c.218delG mutation in exon 3 in the SLC16A1 gene. The variant is expected to result in loss of normal MCT1 function. Our patient is amongst the youngest presenting with MCT1 deficiency. A detailed neuroimaging assessment performed at 18 months of age revealed a complex white and gray matter disease, with heterotopia. The threshold of blood glucose to circumvent neurological sequelae cannot be set because it is patient-specific, nevertheless, neurodevelopmental follow up is recommended in this patient. Further functional studies will be required to understand the role of the MCT1 in key tissues such as the central nervous system (CNS), liver, muscle and ketone body metabolism. Our case suggests possible neurological sequelae that could be associated with MCT1 deficiency, an observation that could facilitate the initiation of appropriate neurodevelopmental follow up in such patients.
- Published
- 2019
- Full Text
- View/download PDF
5. Epidemiology, genetic landscape and classification of childhood diabetes mellitus in the State of Qatar
- Author
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Noor Hamed, Fawziya Al-Khalaf, Sara Al-Khawaga, Khalid Hussain, Tasneem Abdel-Karim, Goran Petrovski, Sabri Boughorbel, Reem Hasnah, Amira Saeed, Houda Afyouni, Shihab Mundekkadan, Ahmed Elawwa, Basma Haris, Maryam Al-Maadheed, Amel Khalifa, Saras Saraswathi, Mahmoud Alzyoud, Shayma Mohammed, and Ahmed Shamekh
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,Adolescent ,endocrine system diseases ,Epidemiology ,Endocrinology, Diabetes and Metabolism ,Type 2 diabetes ,Maturity onset diabetes of the young ,Diseases of the endocrine glands. Clinical endocrinology ,Neonatal diabetes mellitus ,Diabetes mellitus ,Prevalence ,Internal Medicine ,medicine ,Humans ,Childhood Diabetes Mellitus ,Prospective Studies ,Child ,Qatar ,Type 1 diabetes ,business.industry ,Incidence ,Incidence (epidemiology) ,Infant, Newborn ,Infant ,Articles ,General Medicine ,medicine.disease ,RC648-665 ,Diabetes Mellitus, Type 1 ,Diabetes Mellitus, Type 2 ,Child, Preschool ,Original Article ,Female ,business ,Pediatric diabetes - Abstract
Aims/Introduction To study the epidemiology, genetic landscape and causes of childhood diabetes mellitus in the State of Qatar. Materials and methods All patients (aged 0–18 years) with diabetes mellitus underwent biochemical, immunological and genetic testing. American Diabetes Association guidelines were used to classify types of diabetes mellitus. The incidence and prevalence of all the different types of diabetes mellitus were calculated. Results Total number of children with diabetes mellitus was 1,325 (type 1 n = 1,096, ≥1 antibody; type 2 n = 104, type 1B n = 53; maturity onset diabetes of the young n = 20; monogenic autoimmune n = 4; neonatal diabetes mellitus n = 10;, syndromic diabetes mellitus n = 23; and double diabetes mellitus n = 15). The incidence and prevalence of type 1 diabetes were 38.05 and 249.73 per 100,000, respectively, and for type 2 were 2.51 and 23.7 per 100,000, respectively. The incidence of neonatal diabetes mellitus was 34.4 per 1,000,000 live births, and in indigenous Qataris the incidence was 43.6 per 1,000,000 live births. The prevalence of type 1 diabetes and type 2 diabetes in Qatari children was double compared with other nationalities. The prevalence of maturity onset diabetes of the young in Qatar was 4.56 per 100,000. Conclusions This is the first prospective and comprehensive study to document the epidemiology and genetic landscape of childhood diabetes mellitus in this region. Qatar has the fourth highest incidence of type 1 diabetes mellitus, with the incidence and prevalence being higher in Qatari compared with non‐Qatari. The prevalence of type 2 diabetes mellitus is also higher in Qatar than in Western countries. The incidence of neonatal diabetes mellitus is the second highest in the world. GCK is the most common form of maturity onset diabetes of the young, and a large number of patients have type 1B diabetes mellitus., This is the first comprehensive, prospective study from the Middle East North Africa region to systematically study the causes of diabetes in every child in the State of Qatar. The State of Qatar has the fourth highest incidence of type 1 diabetes in the world. The incidence of type 2 diabetes is much higher in Qatar than in Western countries. Both type 1 and type 2 diabetes are more common in the Qatari population than the non‐Qatari population. Mutations in GCK were the most common cause of maturity onset diabetes of the young, and mutations in the PTF1A and INS genes were the most common cause of neonatal diabetes in this population.
- Published
- 2021
6. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
- Author
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Satoshi Kubo, Jill M. Fritz, Hayley M. Raquer-McKay, Rhea Kataria, Ivan Vujkovic-Cvijin, Ahmad Al-Shaibi, Yikun Yao, Lixin Zheng, Juan Zou, Alex D. Waldman, Xinyi Jing, Taylor K. Farley, Ann Y. Park, Andrew J. Oler, Adrian K. Charles, Melanie Makhlouf, Eman H. AbouMoussa, Reem Hasnah, Luis R. Saraiva, Sundar Ganesan, Abdulrahman Ahmed Al-Subaiey, Helen Matthews, Emilio Flano, Hyun Hee Lee, Alexandra F. Freeman, Asena Pınar Sefer, Ersin Sayar, Erkan Çakır, Elif Karakoc-Aydiner, Safa Baris, Yasmine Belkaid, Ahmet Ozen, Bernice Lo, Michael J. Lenardo, and ÇAKIR, Erkan
- Subjects
Male ,Primary Immunodeficiency Diseases ,Immunology ,ADAM17 Protein ,Mice ,Immunology and Allergy ,Animals ,Humans ,Pseudomonas Infections ,Child ,Macrophages ,Kubo S., Fritz J. M. , Raquer-McKay H. M. , Kataria R., Vujkovic-Cvijin I., Al-Shaibi A., Yao Y., Zheng L., Zou J., Waldman A. D. , et al., -Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.-, Nature immunology, 2021 ,Enterobacteriaceae Infections ,Infant, Newborn ,Colitis ,Mice, Inbred C57BL ,HEK293 Cells ,A549 Cells ,Child, Preschool ,Mutation ,Pseudomonas aeruginosa ,Citrobacter rodentium ,Cytokines ,Female ,Carrier Proteins ,Signal Transduction - Abstract
We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in two kindreds with recurrent infections in different organs. One patient had recurrent pneumonia but no colon involvement, another had recurrent infectious hemorrhagic colitis but no lung involvement and the other two experienced recurrent respiratory infections. Loss of iRHOM2, a rhomboid superfamily member that regulates the ADAM17 metalloproteinase, caused defective ADAM17-dependent cleavage and release of cytokines, including tumor-necrosis factor and amphiregulin. To understand the diverse clinical phenotypes, we challenged Rhbdf2
- Published
- 2021
7. Deconstructing the mouse olfactory percept through an ethological atlas
- Author
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Luis R. Saraiva, Diogo Manoel, Richard C. Gerkin, Senthil Selvaraj, Abbirami Sathappan, Charles J. Arayata, Reem Hasnah, Sahar I. Da'as, Joel D. Mainland, Melanie Makhlouf, and Doua Abdelrahman
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0301 basic medicine ,Olfactory perception ,genetic structures ,media_common.quotation_subject ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Article ,03 medical and health sciences ,Mice ,0302 clinical medicine ,Ascomycota ,Perception ,Animals ,media_common ,Odor perception ,musculoskeletal, neural, and ocular physiology ,Olfactory Perception ,Smell ,030104 developmental biology ,Odor ,Odorants ,Percept ,General Agricultural and Biological Sciences ,Neuroscience ,psychological phenomena and processes ,030217 neurology & neurosurgery - Abstract
Odor perception in non-humans is poorly understood. Here, we generated the most comprehensive mouse olfactory ethological atlas to date, consisting of behavioral responses to a diverse panel of 73 odorants, including 12 at multiple concentrations. These data revealed that mouse behavior is incredibly diverse and changes in response to odorant identity and concentration. Using only behavioral responses observed in other mice, we could predict which of two odorants was presented to a held-out mouse 82% of the time. Considering all 73 possible odorants, we could uniquely identify the target odorant from behavior on the first try 20% of the time and 46% within five attempts. Although mouse behavior is difficult to predict from human perception, they share three fundamental properties: first, odor valence parameters explained the highest variance of olfactory perception. Second, physicochemical properties of odorants can be used to predict the olfactory percept. Third, odorant concentration quantitatively and qualitatively impacts olfactory perception. These results increase our understanding of mouse olfactory behavior and how it compares to human odor perception and provide a template for future comparative studies of olfactory percepts among species.
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- 2020
8. Deconstructing the mouse olfactory percept through an olfactory ethological atlas
- Author
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Melanie Makhlouf, Doua Abdelrahman, Senthil Selvaraj, Richard C. Gerkin, Diogo Manoel, Abbirami Sathappan, Joel D. Mainland, Reem Hasnah, Charles J. Arayata, Saraiva Lr, and Sahar I. Da'as
- Subjects
Olfactory perception ,Odor perception ,genetic structures ,Odor ,sense organs ,Biology ,Percept ,Neuroscience ,psychological phenomena and processes - Abstract
Odor perception in non-humans is poorly understood. Here, we generated the most comprehensive murine olfactory ethological atlas to date, consisting of behavioral responses to a diverse panel of 73 odorants, including 12 at multiple concentrations. These data revealed that the mouse behavior is incredibly diverse, and changes in response to odor identity and intensity. Using only behavioral responses, ~30% of the 73 odorants could be identified with high accuracy (>96%) by a trained classifier. Mouse behavior occupied a low-dimensional space, consistent with analyses of human olfactory perception. While mouse olfactory behavior is difficult to predict from the corresponding human olfactory percept, three fundamental properties are shared: odor valence is the primary axis of olfactory perception; the physicochemical properties of odorants can predict the olfactory percept; and odorant concentration quantitatively and qualitatively impacts olfactory perception. These results provide a template for future comparative studies of olfactory percepts among species.
- Published
- 2020
9. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar
- Author
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Amel Khalifa, Hakeem Almabrazi, Reem Hasnah, Saras Saraswathi, Essam M. Abdelalim, Basma Haris, Puthen V. Jithesh, Goran Petrovski, Idris Mohammed, Najeeb Syed, Fawziya Al-Khalaf, El Awwa A, Amira Saeed, Khalid Hussain, and Sara Al-Khawaga
- Subjects
Blood Glucose ,Male ,HNF1B ,INS ,Pediatrics ,medicine.medical_specialty ,lcsh:QH426-470 ,Neonatal diabetes ,Fanconi–Bickel Syndrome (FBS) ,pancreatic agenesis ,Permanent neonatal diabetes (PNDM) ,Osteochondrodysplasias ,Germinal Center Kinases ,Diabetes Mellitus ,medicine ,Humans ,Qatar ,Glucose Transporter Type 2 ,GCK ,Whole Genome Sequencing ,business.industry ,Incidence ,Infant, Newborn ,Infant ,Original Articles ,Fanconi Syndrome ,Pedigree ,lcsh:Genetics ,Diabetes Mellitus, Type 1 ,Enhancer Elements, Genetic ,Phenotype ,PTF1A ,Female ,Original Article ,Wolcott–Rallison Syndrome (WRS) ,business ,Epiphyses ,Gene Deletion ,Transcription Factors ,Whole Genome Sequencing (WGS) - Abstract
Background Neonatal diabetes mellitus (NDM) is a rare condition that occurs within the first six months of life. Permanent NDM (PNDM) is caused by mutations in specific genes that are known for their expression at early and/or late stages of pancreatic beta‐ cell development, and are either involved in beta‐cell survival, insulin processing, regulation, and release. The native population in Qatar continues to practice consanguineous marriages that lead to a high level of homozygosity. To our knowledge, there is no previous report on the genomics of NDM among the Qatari population. The aims of the current study are to identify patients with NDM diagnosed between 2001 and 2016, and examine their clinical and genetic characteristics. Methods To calculate the incidence of PNDM, all patients with PNDM diagnosed between 2001 and 2016 were compared to the total number of live births over the 16‐year‐period. Whole Genome Sequencing (WGS) was used to investigate the genetic etiology in the PNDM cohort. Results PNDM was diagnosed in nine (n = 9) patients with an estimated incidence rate of 1:22,938 live births among the indigenous Qatari. Seven different mutations in six genes (PTF1A, GCK, SLC2A2, EIF2AK3, INS, and HNF1B) were identified. In the majority of cases, the genetic etiology was part of a previously identified autosomal recessive disorder. Two novel de novo mutations were identified in INS and HNF1B. Conclusion Qatar has the second highest reported incidence of PNDM worldwide. A majority of PNDM cases present as rare familial autosomal recessive disorders. Pancreas associated transcription factor 1a (PTF1A) enhancer deletions are the most common cause of PNDM in Qatar, with only a few previous cases reported in the literature.
- Published
- 2020
10. Prognostic values of the mRNA expression of natural killer receptor ligands and their association with clinicopathological features in breast cancer patients
- Author
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Reem Hasnah, Mohamad Saad, Ghina Taouk, Ali Abouelghar, and Manale Karam
- Subjects
0301 basic medicine ,Innate immune system ,business.industry ,medicine.medical_treatment ,Cell ,Immunotherapy ,medicine.disease ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,medicine.anatomical_structure ,Breast cancer ,Oncology ,Downregulation and upregulation ,Cancer cell ,medicine ,Cancer research ,Cytotoxic T cell ,business ,Receptor ,030215 immunology - Abstract
// Ali Abouelghar 1 , Reem Hasnah 2 , Ghina Taouk 3 , Mohamad Saad 4 and Manale Karam 5 1 Cancer Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar 2 Department of Biological Sciences, Carnegie Mellon University in Qatar, Doha, Qatar 3 Cancer Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar 4 Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar 5 Cancer Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar Correspondence to: Manale Karam, email: mdoldur@hbku.edu.qa Keywords: natural killer cells; breast cancer; NK receptor ligands; Kaplan-Meier plotter; prognosis Received: February 12, 2018 Accepted: May 14, 2018 Published: June 05, 2018 ABSTRACT Background: Natural killer (NK) cells are lymphocytes of the innate immune system that have potent cytotoxic activity against tumor cells. NK cell recognition and activity towards cancer cells are regulated by an integrated interplay between numerous inhibitory and activating receptors acting in concert to eliminate tumor cells expressing cognate ligands. Despite strong evidence supporting the role of NK cells in breast cancer (BC) control, BC still develops and progresses to form large tumors and metastases. A major mechanism of BC escape from NK immunity is the alteration of the expression of NK receptor ligands. The aim of this study was to determine whether NK receptor ligands’ mRNA expression might influence prognosis in BC patients and whether these effects differ by molecular subtypes and clinicopathological features. Methods: We used the KM plotter platform to analyze the correlation between mRNA expression of 32 NK receptor ligands and relapse-free survival (RFS) and overall survival (OS) in 3951 and 1402 BC patients, respectively. The association with tumor subtypes and clinicopathological features was determined. BC samples were split into high and low expression groups according to the best cutoff value and the two patient cohorts were compared by Kaplan–Meier survival plots. The hazard ratios with 95% confidence intervals and log rank P values were calculated and FDR-adjusted for multiple testing correction. The data was considered to be statistically significant when FDR-adjusted P value < 0.05. Results: High mRNA expression of around 80% of ligands for NK activating and inhibitory receptors associated with better RFS, which correlated with longer OS for only about half of the NK-activating ligands but for most NK-inhibitory ligands. Also, five NK-activating ligands correlated with worse prognosis. These prognostic values were differentially associated with the BC clinical criteria. In addition, the favorable prognostic influence of NK-activating ligands’ upregulation, as a whole, was mainly significantly associated with HER2-positive and basal-like subtypes, lymph node positive phenotype, and high-grade tumors. Conclusions: NK receptor ligands appear to play an important role in defining BC patient prognosis. Identification of a group of patients with worse prognosis expressing high levels of NK-activating ligands and low levels of NK-inhibitory ligands makes them ideal potential candidates for NK-based immunotherapy to eliminate residual tumor cells, prevent relapse and improve patient survival.
- Published
- 2018
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