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Genetics of congenital and infantile nephrotic syndrome

World Journal of Pediatrics 2019年第2期15卷 198-203页

作者： Sara Nawfal Sharief nada Abdullatif Hefni Walaa Ali Alzahrani Iman Ibrahim Nazer Marwa Abdullah Bayazeed Khalid A.Alhasan Osama Y.Safdar Sherif M.El-Desoky Jameela Abdulaziz Kari King Abdulaziz University JeddahKingdom of Saudi Arabia College of Medicine Pediatric DepartmentKing Saud UniversityRiyadhKingdom of Saudi Arabia Department of Pediatrics Faculty of MedicinePediatric Nephrology Center of ExcellenceKing Abdulaziz UniversityPO Box 80215Jeddah 21589Kingdom of Saudi Arabia

Background Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene *** study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our *** also discussed our different approach secondary to culture and *** A retrospective single-center study of all children diagnosed as NS before the age of l year over a duration of over one *** Twenty-nine children (12 boys) were included in the *** median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS).Consanguinity was present in 90% of *** genetic analysis' results were only available for 20 *** underlying causative homozygous mutation was detected in 18 children (90%):NPHS1 (9),NPHS2(2),LAMB2(3),PLCE1(1),WT1(1),and ITSN1 novel mutation (2).One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the *** CNS cases were all managed with intermittent intravenous albumin infusion,ACEi,diuretics,and *** of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited *** one child achieved partial remission,while 15 children died at a median (range) age of 5.8 (1.25-29) *** remaining 14 children were followed up for an average of 36 (3.9-120) *** children progressed to end-stage kidney disease and PD was performed in only two *** NPHS1 is the main underlying cause of CNS and INS in our study *** and INS were associated with high morbidity and mortality.

关键词： Congenital nephrotic Infantile nephrotic Genetics Outcome

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Glycosidically Bound Volatile Compounds of Satureja montana L.,*** Ten.,*** *** Endemic *** SiliC

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Advances in Biological Chemistry 2015年第7期5卷 235-238页

作者： Valerija Dunkic Ivana Radovanovic nada Bezic Elma Vuko Department of Biology Faculty of ScienceUniversity of SplitSplitCroatia

In this paper, the glycoconjugated volatile compounds of four Croatian Satureja species (Satureja montana L., S. cuneifolia Ten., S. subspicata Vis. and endemic S. visianii Silic) were investigated. Content and composition of these compounds were examined depending on the stage of plant development. GC and GC–MS analysis of volatile aglycones revealed twenty-one compounds. Thymoquinone, geraniol and carvacrol were detected in all vegetative phases of the investigated plants. Other quantitatively important aglycones were eugenol and thymol of S. montana, phenyl ethyl alcohol, benzene acetaldehyde, borneol, α-terpineol, thymol and eugenol of S. cuneifolia, phenyl ethyl alcohol, benzene acet-aldehyde, terpinen-4-ol, α-terpineol and β-ionone of S. subspicata and camphor, thymol and 8a-acetoxylemolol of S. visianii. Moderate similarity in the chemical composition of essential oils and volatile aglycones of investigated plant species indicate that many biologically active compounds are glycosylated and accumulate as non-volatile glycosides.

关键词： Satureja montana S.cuneifolia S.subspicata S.visianii Glicosydically Bound Volatiles Free Aglycones

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<i>In silico</i>analysis of influence of the missense mutation P629S on the molecular interaction and 3D properties of PIK3R5

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Advances in Biological Chemistry 2013年第4期3卷 408-417页

作者： Jameela Shinwari Asma I. Tahir Saeed Bohlega nada AlTassan Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh KSA Department of Neurosciences King Faisal Specialist Hospital and Research Centre Riyadh KSA

PIK3R5 is the regulatory subunit of Phosphoinositide 3-kinase γ (PI3Kγ) that is responsible for phosphory-lating membrane lipids to activate the AKT pathway. PIK3R5 binds Gβγ and facilitates the interaction with p110γ catalytic subunit (PIK3CG) during PI3Kγ activation. The identification of PIK3R5 P629S mutation in AOA2 patients indicated a potential defect in the AKT pathway resulting from impaired PIK3R5 interaction with Gβγ and PIK3CG, defective AKT pathway can result in cerebellar cell death causing neurological symptoms. Our in silico macromolecular docking of the wild type and mutant PIK3R5 protein models with ligand revealed an energy requirement to maintain the mutant complexes compared to no energy required to maintain the wild type complexes, in addition, the mutant structures were loose compared to rigid wild type structures, such structural changes may impair the molecular function of the PIK3R5 and hence affect the AKT pathway.

关键词： PIK3R5 Missense Mutation Protein Modelling Protein-Protein Docking PIK3CG Gβγ

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Clinical and epidemiological characteristics of norovirus gastroenteritis among hospitalized children in Lebanon

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World Journal of Gastroenterology 2016年第48期22卷 10557-10565页

作者： nada M Melhem Hassan Zaraket Khalil Kreidieh Zeinab Ali Moza Hammadi Soha Ghanem Farah Hajar Amjad Haidar Adlette Inati Mariam Rajab Hassan Fakhouri Bassam Ghanem Ghassan Baasiri Ghassan Dbaibo Center for Infectious Diseases Research Faculty of Medicine American University of Beirut Medical Laboratory Sciences Program Faculty of Health Sciences American University of Beirut Department of Experimental Pathology Immunology and Microbiology American University of Beirut Faculty of Medicine Department of Pediatrics and Adolescent Medicine Faculty of Medicine American University of Beirut Medical Center Department of Pediatrics Nini Hospital Department of Pediatrics Makassed General Hospital Department of Pediatrics Rafik Hariri University Hospital Department of Pediatrics Nabatieh Governmental Hospital Department of Pediatrics Hammoud Hospital

AIM To assess the burden of norovirus(No V) and to determine the diversity of circulating strains among hospitalized children in Lebanon. METHODS Stool samples were collected from children presenting with acute gastroenteritis to six major hospitals in Lebanon. A total of 739 eligible stool samples, testing negative for diarrhea caused by rotavirus as a possible viral pathogen, were collected between January 2011 and June 2013. A standardized questionnaire including demographic, epidemiological and clinical observations was used at the time of hospitalization of children presenting with diarrhea. Viral RNA was extracted from stool samples followed by reverse transcription polymerase chain reaction and nucleotide sequencing of a fragment of the viral protein 1 capsid gene. Multiple sequence alignments were carried out and phylogenetic trees were constructed using the MEGA 6 *** Overall, 11.2% of stool samples collected from children aged < 5 years tested positive for No V genogroups Ⅰ(GⅠ) and Ⅱ(GⅡ). GⅡ accounted for 10.6% of the gastroenteritis cases with only five samples being positive for GⅠ(0.7%). The majority of hospitalized children showed symptoms of diarrhea, dehydration, vomiting and fever. Upon sequencing of positive samples and based on their clustering in the phylogenetic tree, 4/5 of GⅠ gastroenteritis cases were designated GⅠ.3 and one case as GⅠ.4. GⅡ.4 was predominantly detected in stool of our study participants(68%). We report a JB-15/KOR/2008 GⅡ.4 Apeldoorn 2008-like variant strain circulating in 2011; this strain was replaced between 2012 and 2013 by a variant sharing homology with the Sydney/NSW0514/2012/AUS GⅡ.4 Sydney 2012 and Sydney 2012/FRA GⅡ.4 strains. We also report the co-circulation of non-GⅡ.4 genotypes among hospitalized children. Our data show that No V gastroenteritis can occur throughout the year with the highest number of cases detected during the hot *** The majority of No V-associated viral gastroenteri

关键词： Norovirus Reverse transcription polymerase chain reaction Sequencing Norovirus genogroup Ⅰ Norovirus genogroup Ⅱ Lebanon

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Electro Analytical Determination of Di Hydroxybenzene Isomers Using Glassy Carbon Electrode

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Journal of Chemistry and Chemical Engineering 2014年第7期8卷 654-661页

作者： Mahmoud Khodari Ahmed Abd El-Rady Ekram Rabee nada Nabil Chemistry Department Faculty of Science South Valley University Qena 83523 Egypt

In this study, the electrochemical oxidation of CT （catechol）, HQ （hydroquinone） and RS （resorcinol） was investigated using cyclic and linear sweep voltammetries at GCE （glassy carbon electrode）. The GCE showed an excellent electro activity and reversibility towards the oxidation of these isomers at different conditions. HQ and CT showed one defined oxidation peak and one defined reduction peak while RS showed one defined oxidation peak. These isomers were determined also in their binary and tertiary mixtures. The calibration curves for CT, HQ and RS were obtained in the ranges of 5 × 10-6 to 1 × 10-3 ***-3, 5 × 10-6 to 5 × ***-3 and 1 × 10-5 to 1× 10-3 ***-3, respectively. The detection limits were 9 ×10-7, 3 × 10-7, 6 × 10-6 ***3 for CT, HQ and RS, respectively. At the optimal experimental conditions, these isomers were determined in different water samples. Also, the removal of catechol from aqueous solution by adsorption on activated charcoal and alumina was studied. After 24 h, 88.7% and 65.9% of catechol was removed using charcoal and alumina, respectively.

关键词： Di hydroxybenzene isomers glassy carbon electrode electroanalytical chemistry removal ofcatechol adsorption.

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Oculo Orbital Complications of Sinusitis

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Open Journal of Ophthalmology 2016年第1期6卷 34-42页

作者： nada Otmani Serheir Zineb Housbane Sami Oudidi Abdellatif Bennani Othmani Mohamed Hassan II Hospital Fez Morocco Faculty of Medicine Casablanca Morocco

The ocular-orbital complications of sinusitis constitute a diagnostic and therapeutic urgency that requires a correct multidisciplinary assumption. Objectives: The description of clinical and therapeutic data of the orbital complications of acute sinusitis. Methods: Our work is based on a retrospective study of 86 cases of ocular-orbital complications of sinusitis hospitalized at the ENTdepartment of Hassan II Hospital in Fes (Morocco), between the years of 2006 and 2014. Results: It is about 56 men and 30 women. The average age was 24 years, with the extremes of 3 years and 65 years. The average time of consultation was 13 dates. The achievement was frontal-ethmoido in 26 cases, and it is about a pan sinusitis in 24 cases. About 13% and 7% of cases were classified respectively in the stage III and the stage IV of chandler. The surgery was done for 24 cases. Bacteriological sample was performed among 24 patients and allowed to isolate a streptococcus (3.5%), and a staphylococcus (5.8%), and a poly microbial flora for 15.1% of patients. A death in sepsis panel was noted for a patient who presented a thrombosis of cavernous sinus. And we have noted a persistent left exophthalmia without the diminution of visual acuity for another patient. Conclusion: The orbital complications of sinusitis require a multi-disciplinary medical approach associated to ear specialist, ophthalmologist, and neuro-radiology. A precocious diagnosis, an appropriate anti-biotic therapy, and sometimes an associated surgical treatment, can significantly diminish the mortality and the morbidity related to this pathology.

关键词： Oculo Orbital Sinusitis Complication CT Scan Endoscopic Surgery

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Uranium Concentrations in Surface Soil Samples for Selected Regionsin AI-Anbar Governorate （Iraq） Using CR-39 Track Detector

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Journal of Physical Science and Application 2016年第1期6卷 67-70页

作者： nada Fadhil Tawfiq Hazim Louis Mansour Mahmood Salim Karim Department of Physics Al-Nahrain University Baghdad lraq Department of Physics Al-Mustansiriyah University Baghdad Iraq

In the present work, uranium concentrations were measured in twenty surface soil samples forselected regions in AI-Anbargovernorate using fission track etch technique, CR-39 track detector was used for registration of induced fission tracks. The results show that, the uranium concentrations ranged from 4.61 ppm, 56.93 Bq/kg （AL-Falluja AL-Jolan District） to 1.81 ppm 22.35 Bq/kg （Anah）with an average 3.42±0.79 ppm, 41.76±9.04 Bq/kg. The present results have shown that the uranium concentrations in the studied surface soil samples were less than the allowed limit 11.7 ppm recommended by UNSCEAR, 1993.

关键词： Uranium concentration CR-39 track detector fission tracks surface soil.

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Quantitative analysis of cefixime via complexation with palladium(Ⅱ) in pharmaceutical formulations by spectrophotometry

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Journal of Pharmaceutical Analysis 2013年第4期3卷 248-256页

作者： Syed Najmul Hejaz Azmi Bashir Iqbal nada Said Hassan Al-Humaimi Iman Rashid Saif Al-Salmani Noora Ali Saad Al-Ghafri Nafisur Rahman Department of Applied Sciences Chemistry SectionHigher College of Technology Department of Chemistry Aligarh Muslim University

An optimized and validated spectrophotometric method has been developed for the determination of cefixime in pharmaceutical formulations. The method is based on the complexa- tion reaction between cefixime and palladium ion in the presence of acidic buffer solution （pH 3） in ethanol-distilled water medium at room temperature. The complex absorbed maximally at 352 nm. Beer＇s law is obeyed in the working concentration range of 2.5-35 μg/mL with apparent molar absorptivity of 1.015×104 L/mol cm and Sandell＇s sensitivity of 0.001 μg/cm2/0.001 absorbance unit. The limits of detection and quantitation for the proposed method are 0.175 and 0.583μg/mL, respectively. The effect of common excipients used as additives has been studied in the determination of cefixime. The proposed method has been successfully applied for the determina- tion of cefixime in pharmaceutical formulations. The results obtained by the proposed method were statistically compared with the reference method using t and F values and found no significant difference between the two methods.

关键词： Spectrophotometry Cefixime Palladium ion Pd(II)-cefixime complex

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Estimation of Natural Radioactivity of Some Medicinal or Herbal Plants Used in Iraq

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Detection 2015年第1期3卷 1-7页

作者： Laith A. Najam nada F. Tafiq Fouzey H. Kitah Physics Department College of Science University of Mosul Mosul Iraq Physics Department College of Science Al-Nahrain University Baghdad Iraq Ministry of Science and Technology Baghdad Iraq

Nine medicinal or herbal plants used in Iraq were analyzed to determine natural radioactivity. The radionuclides were determined by Gross alpha, beta and gamma spectrometry Proportional counter + NaI(Tl) detector type(XLB5) and gamma-ray spectroscopy with (HPGe) techniques. The activity concentration of 40K ranged from 124.1 Bq/kg in (Crust sample) to 88.3 Bq/kg in (Chamomile sample), for gross alpha ranged from (N.D.) in (Flax sample) to 0.4 cpm in (Anise sample), while for beta ranged from 5.7 cpm in (Flax sample) to 25.6 cpm in (Latency sample) and for gamma ranged from 0.6 cpm in (Thyme sample) to 5.10 cpm in (Coriander and Flax samples).

关键词： Medicinal Plants Alpha Cross Natural Radioactivity Beta Cross Gamma Spectroscopy

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Atypical Presentation of Acanthamoeba Keratitis in a Contact Lens Wearer

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Open Journal of Ophthalmology 2020年第4期10卷 261-267页

作者： nada Al-Yousuf Khalid Al Sindi Shaima Hashim Hasan Alsetri Catherine Dombroski Department of Ophthalmology King Abdullah Medical City Arabian Gulf University Manama Kingdom of Bahrain Departments of Pathology Blood Bank and Laboratory Medicine King Hamad University Hospital Muharraq Kingdom of Bahrain Department of Ophthalmology Salmaniya Medical Complex Manama Kingdom of Bahrain Department of Chemistry and Biochemistry University of California Los Angeles CA USA

Acanthamoeba keratitis is a serious infection that can lead to loss of vision. It is highly challenging and often poses a diagnostic dilemma, causing delay in diagnosis and treatment. We report herewith the clinical and histopathology findings of a patient with an atypical presentation of acanthamoeba keratitis in Bahrain. The patient is a 16-year-old Bahraini teenager who was a cosmetic contact lens wearer. She presented with clinical signs and symptoms of microbial keratitis, which was initially misdiagnosed elsewhere as a case of herpetic corneal infection. Her corneal biopsy confirmed the clinical diagnosis as acanthamoeba keratitis. The patient was started on anti amoebic treatment. The infection got eradicated. The cornea healed with a central scar. Eventually, she underwent penetrating keratoplasty. This case report serves to raise awareness of this rare condition. Clinicians should have a high index of suspicion when diagnosing such cases among contact lens wearers. Early diagnosis and treatment are crucial to prevent serious complications.

关键词： Acanthamoeba Keratitis Contact Lens Perineuritis Hypopyon

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