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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar neveen a.soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Survival of <i>Staphylococcus aureus</i>in Bio-Yoghurt

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Open Journal of Applied Sciences 2019年第7期9卷 564-572页

作者： neveen S. M. soliman Lamiaa I. Ahmed Department of Food Hygiene & Control Faculty of Veterinary Medicine Cairo University Giza Egypt

Introduction: Due to the increasing demand for natural probiotic products, yogurt is the most popular type of fermented dairy products. Aim: Yoghurt produced using probiotic bacteria and its effect on Staphylococcus aureus as a pathogenic microorganism is discussed as compared with traditional yoghurt. Material and method: The influence of yoghurt using starter culture on S. aureus during manufacture and storage for three brands of Lab. made yoghurt (A, B and C) was judged as excellent concerning the total acceptability. Result: The inoculated S. aureus decreases in number by the end of the storage period. In addition, the best effect of inhibition was observed in brand (B) using yoghurt starter with Lactobacillus acidophilus, followed by brand (C) using yoghurt starter L. acidophilus together with Bifidobacterium bifidum and the least effect was belonging to brand (A) using yoghurt starter only. This inhibitory effect may be attributed either to the probiotic bacteria itself or to the antibacterial substances secreted by them. Conclusion: The authors recommended the consumption of bio-yoghurt as it is not only palatable but also, safe due to improved hygienic quality.

关键词： Yoghurt Probiotics Lactobacillus acidophilus Bifidobacterium bifidum

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Prevalence of Some Deteriorating Microorganisms in Some Varieties of Cheese

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Open Journal of Applied Sciences 2019年第7期9卷 620-630页

作者： Ayah B. Abdel-Salam neveen S. M. soliman Department of Food Hygiene and Control Faculty of Veterinary Medicine Cairo University Giza Egypt

Aim: This work throws light on the deteriorating microorganisms in some varieties of cheeses [hard cheese (Ras cheese), and processed cheese]. Material and Method: Thirty Ras cheese and processed cheese samples were collected randomly and subjected to chemical & microbiological examination to determine its contamination with deteriorating microorganisms. Results: Chemical examination showed that the mean titratable acidity % of Ras and Processed cheese samples were 0.5 ± 0.073 and 0.93% ± 0.062%, respectively, while salt % were 3.4 ± 0.078 and 1.03% ± 0.05%, respectively. Most of samples were contaminated with high numbers of Coliforms, yeast, mold, proteolytic, lipolytic and Enterococci. Conclusion: There are poor hygienic measures during production, processing and handling of cheese.

关键词： Titratable Acidity Salt Proteolytic Microorganisms Coliforms Enterococci

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The Value of Speckle Tracking Strain Imaging at Recovery Period of Dobutamine Stress Echocardiography

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World Journal of Cardiovascular Diseases 2019年第3期9卷 223-235页

作者： Mosaad M. Abushabana neveen I. Samy Mahmoud A. soliman Walaa Fareed El Mahalla General Hospital MOH El-Mahalla Egypt Cardiovascular Disease Department Faculty of Medicine Menoufia University Shebeen El-Kom Egypt

Background: Dobutamine stress echocardiography (DSE) is a well-established method for detecting myocardial ischemia. The classic echocardiographic findings of ischemia are new or worsening abnormalities of radial wall thickening. However, interpretation of these findings is subjective and dependent on experience. Speckle tracking strain imaging (STI) has been introduced as a novel method to overcome these limitations. Objective: The aim of the study is to evaluate the value of speckle tracking imaging (STI) by estimating the mean global longitudinal systolic (GLS) and the mean global circumferential systolic (GCS) strain imaging at recovery period of dobutamine stress echocardiography for prediction of significant coronary artery disease (CAD) in patients with chest discomfort. Methods: Fifty three patients presented for evaluation of chest discomfort underwent dobutamine stress echocardiography and coronary angiography at Cardiology Department,Menoufia University Hospital. The mean global left ventricular longitudinal systolic strain (GLS) at apical views—3 chambers, 4 chambers & 2 chambers apical views and global left ventricular circumferential systolic strain (GCS) at short axis view at level of papillary muscle were measured at rest and during recovery period of dobutamine stress echocardiography using automated functional imaging (AFI). Coronary angiography was done for all patients. Significant coronary artery lesion was defined as having a ≥ 70% diameter stenosis on coronary angiography. Patients were divided into two groups based on the presence or absence of significant coronary artery lesion into CAD positive (+ve) group vs. CAD negative (-ve) group. Results: In both groups,there were no statistically significant differences in the clinical characteristics and baseline conventional transthoracic echocardiography. GLS and GSC at recovery were lower in the CAD (+ve) group than in the CAD (-ve) group (-16.69% ± 1.10% vs -19.05% ± 1.41% p ). GLS and GCS durin

关键词： Coronary Artery Disease Dobutamine Stress Echocardiography Speckle Tracking Imaging Coronary Angiography

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Tumor necrosis factor-α and interleukin-6 in cirrhotic patients with spontaneous bacterial peritonitis

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World Journal of Gastrointestinal Pathophysiology 2012年第5期3卷 92-98页

作者： Muhammed AM Suliman Fawzy MH Khalil Salam SA Alkindi Anil V Pathare Ali AA Almadhani neveen AAI soliman Department of Medicine Sohar HospitalSohar 311Oman Department of Medicine Benha UniversityBenha 13511Egypt Department of Haematology Sultan Qaboos UniversityMuscat 123Oman

AIM: To evaluate the role of tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) in cirrhotic patients who have hepatic and renal impairment with spontaneous bacterial peritonitis (SBP).

关键词： Tumor necrosis factor Interleukin-6 Spontaneous bacterial peritonitis Cirrhosis Tumor necrosis factor

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