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https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#1
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28218156/risk-factors-for-death-during-a-resurgence-of-influenza-a-h1n1-pdm09-in-punjab-state-in-2013
#2
Tripurari Kumar, Deepak Bhatia, Pinnaka Venkata Maha Lakshmi, Kayla F Laserson, Jai Prakash Narain, Rajesh Kumar
BACKGROUND: In 2013, high mortality from influenza-A (H1N1) pdm09 (pH1N1) was observed in Punjab, India. OBJECTIVES: To describe cases and deaths of 2013 pH1N1 positives, to evaluate the high case fatality ratio and risk factors for pH1N1-associated mortality among the hospitalized cases in Punjab for 2013. METHODS: A case-control study was conducted and compared those who died from confirmed pH1N1 with those who survived in the hospital between January 1, 2013, and April 30, 2013...
January 2017: Indian Journal of Public Health
https://www.readbyqxmd.com/read/28210569/infant-acute-myocarditis-mimicking-acute-myocardial-infarction
#3
Maher Jedidi, Samia Tilouche, Tasnim Masmoudi, Maha Sahnoun, Youssef Chkirbène, Sarra Mestiri, Lamia Boughamoura, Mohamed Ben Dhiab, Mohamed Kamel Souguir
Myocarditis is an inflammatory disease of the myocardium with heterogeneous clinical manifestations and progression. In clinical practice, although there are many methods of diagnosis of acute myocarditis, the diagnosis remains an embarrassing dilemma for clinicians. The authors report the case of 9-month-old infant who was brought to the Pediatric Emergency Department with sudden onset dyspnea. Examination disclosed heart failure and resuscitation was undertaken. The electrocardiogram showed an ST segment elevation in the anterolateral leads with a mirror image...
October 2016: Autopsy & case reports
https://www.readbyqxmd.com/read/28199928/spectrophotometric-determination-of-meclizine-hydrochloride-and-pyridoxine-hydrochloride-in-laboratory-prepared-mixtures-and-in-their-pharmaceutical-preparation
#4
Maha M Ibrahim, Eman S Elzanfaly, Mohamed B El-Zeiny, Nesreen K Ramadan, Khadiga M Kelani
In this paper, three rapid, simple, accurate and precise spectrophotometric methods were developed for the determination of meclizine hydrochloride in the presence of pyridoxine hydrochloride without previous separation. The methods under study are dual wavelength (DWL), ratio difference (RD) and continuous wavelet transform (CWT). On the other hand, pyridoxine hydrochloride (PYH) was determined directly at 291nm. The methods obey Beer's law in the range of (5-50μg/mL) for both compounds. All the methods were validated according to the ICH guidelines where the accuracy was found to be 98...
February 8, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28197216/introducing-the-comprehensive-unit-based-safety-program-for-mechanically-ventilated-patients-in-saudi-arabian-intensive-care-units
#5
Raymond M Khan, Maha Aljuaid, Hanan Aqeel, Mohammed M Aboudeif, Shaimaa Elatwey, Rajeh Shehab, Yasser Mandourah, Khalid Maghrabi, Hassan Hawa, Imran Khalid, Ismael Qushmaq, Asad Latif, Bickey Chang, Sean M Berenholtz, Sultan Tayar, Khloud Al-Harbi, Amin Yousef, Anas A Amr, Yaseen M Arabi
Over the past decade, there have been major improvements to the care of mechanically ventilated patients (MVPs). Earlier initiatives used the concept of ventilator care bundles (sets of interventions), with a primary focus on reducing ventilator-associated pneumonia. However, recent evidence has led to a more comprehensive approach: The ABCDE bundle (Awakening and Breathing trial Coordination, Delirium management and Early mobilization). The approach of the Comprehensive Unit-based Safety Program (CUSP) was developed by patient safety researchers at the Johns Hopkins Hospital and is supported by the Agency for Healthcare Research and Quality to improve local safety cultures and to learn from defects by utilizing a validated structured framework...
January 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28195084/calretinin-expression-as-a-reliable-prognostic-marker-in-different-molecular-subtypes-of-breast-carcinoma
#6
Mayada Saad Farrag, Amro Awad El-Karef, Maha Mohammed Amin, Nagwa Mokhtar Helal, Omar Farouk Ali, Nesrine Saad Farrag
BACKGROUND: Calretinin (CR), a known mesothelial marker, is expressed in both epithelial and mesenchymal malignancies including breast cancer. AIMS: We aimed to measure the frequency of CR expression in correlation with other clinicopathological parameters of different molecular subtypes of invasive breast carcinoma and to study its prognostic implications in this common cancer. STUDY DESIGN: Tissue microarrays were constructed from 225 tissue samples of breast carcinoma cases...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28191891/mutations-in-donson-disrupt-replication-fork-stability-and-cause-microcephalic-dwarfism
#7
John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, Jennie E Murray, Dimitrios K Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M A Mottram, Clare V Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel C Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S Alsaif, Ariella Amar, Natalie J Prescott, Michael B Bober, Angela Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Yousuf Al-Aama, Janine Altmüller, Mohammed Al Balwi, Angela F Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, Bertram D Henderson, Emma Hobson, Peter Nürnberg, E Ferda Percin, Angela Peron, Luigina Spaccini, Alan J Quigley, Seema Thakur, Carol A Wise, Grace Yoon, Maha Alnemer, Pavel Tomancak, Gökhan Yigit, A Malcolm R Taylor, Martin A M Reijns, Michael A Simpson, David Cortez, Fowzan S Alkuraya, Christopher G Mathew, Andrew P Jackson, Grant S Stewart
To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protection factor and report biallelic DONSON mutations in 29 individuals with microcephalic dwarfism. We demonstrate that DONSON is a replisome component that stabilizes forks during genome replication. Loss of DONSON leads to severe replication-associated DNA damage arising from nucleolytic cleavage of stalled replication forks...
February 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28185016/association-between-paraoxonase-1-gene-q192r-and-l55m-polymorphisms-in-systemic-lupus-erythematosus-sle-and-anti-phospholipid-syndrome-aps-in-a-population-from-cairo-of-egypt
#8
Alshaymaa Ahmed Ibrahim, Dalia El-Lebedy, Ingy Ashmawy, Maha Abdel Hady
Paraoxonase-1 (PON1) is involved in the oxidative stress process that cause tissue damage observed in systemic lupus erythematosus (SLE) and anti-phospholipid syndrome (APS). The aim of the present study was to investigate the association of PON1 Q192R and L55M polymorphisms with risk of SLE and associated APS among Egyptian sample. The study included 120 SLE patients (45 without APS and 75 with APS) and 120 healthy subjects. PON1 Q192R and L55M polymorphisms were genotyped by real-time PCR. No significant differences in Q192R genotypes or allele frequencies were found between patients and controls (p = 0...
February 9, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28182588/the-effect-of-different-methods-of-leucoreduction-on-plasma-coagulation-factors
#9
Azza A Aboul Enein, Hala A Abdel Rahman, Mohamed M M Abdel Maged, Maha H El Sissy
Removal of leucocytes from blood products, namely leucoreduction, improves the safety of blood transfusion by reducing adverse events associated with the incidental transfusion of leucocytes. Coagulation factors might be compromised during leucoreduction because of exposure of plasma to a variety of filter materials. The aim of the current study was to assess the effect of different methods of prestorage leucofiltration (apheresis and whole blood filters) on prothrombin time, international normalized ratio, partial thromboplastin time and factors V and VIII...
March 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28182327/microangiopathic-hemolytic-anemia-due-to-adamts-13-loss-in-idiopathic-systemic-capillary-leak-syndrome-reply
#10
Daniel C Moreira, Jorge Di Paola
We sincerely appreciate Dr Thachil's letter, which provides further insight into the case we recently published, in which ADAMTS-13 was likely lost in third-space fluid in a patient with idiopathic systemic capillary leak syndrome (SCLS) and that this loss was proposed as a novel mechanism for microangiopathic hemolytic anemia (MAHA) [1]. As mentioned in the original publication, identifying high levels of ADAMTS-13 in the transudate fluid would have proven the proposed mechanism, but unfortunately a sample of the transudate fluid was not available...
February 9, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28179710/retrograde-bullet-migration-from-inferior-vena-cava-into-right-common-iliac-vein-following-gunshot-a-case-report
#11
Ibrahim Zahid, Hamza Abdur Rahim Khan, Omar Irfan, Benish Fatima, Maha Tahir, Muhammad Tariq, Fazal Wahab Khan, Saulat Fatimi
Bullet embolization cases are rare and even rarer are its retrograde migration in the veins. We report the case of a 14 year old male with a gunshot wound to the left side of his chest. CT scan revealed bilateral haemothorax and foreign body in the right common iliac vein. The patient was immediately taken to the operating theatre and median sternotomy performed. Bullet entry tear was found in the inferior vena cava however, the bullet was found lodged in the right common iliac vein and slipped down against the flow of blood...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#12
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28176474/monoclonal-gammopathy-of-renal-significance-triggering-atypical-haemolytic-uraemic-syndrome
#13
REVIEW
Usman Mahmood, Nicole Isbel, Peter Mollee, Andrew Mallett, Sridevi Govindarajulu, Ross Francis
Haemolytic uraemic syndrome is a rare condition with an overall incidence of one to two cases in a population of 100 000 and approximately 10% of these cases are classified as atypical. Atypical haemolytic uraemic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by microangiopathic haemolytic anaemia (MAHA), thrombocytopenia and acute kidney injury. aHUS can be genetic, acquired or idiopathic (negative genetic screening and no environmental triggers). We describe a case of aHUS triggered by monoclonal gammopathy of renal significance (MGRS) successfully treated with plasmapheresis and a bortezomib-based chemotherapy regimen, resulting in marked improvement in renal function and other markers of haemolysis...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28165809/ocular-ketoconazole-loaded-proniosomal-gels-formulation-ex-vivo-corneal-permeation-and-in-vivo-studies
#14
Ghada A Abdelbary, Maha M Amin, Mohamed Y Zakaria
CONTEXT: Vesicular drug carriers for ocular delivery have gained a real potential. Proniosomal gels as ocular drug carriers have been proven to be an effective way to improve bioavailability and patient compliance. OBJECTIVE: Formulation and in vitro/ex vivo/in vivo characterization of ketoconazole (KET)-loaded proniosomal gels for the treatment of ocular keratitis. MATERIALS AND METHODS: The effect of formulation variables; HLB value, type and concentration of non-ionic surfactants (Tweens, Spans, Brijs and Pluronics) with or without lecithin on the entrapment efficiency (EE%), vesicle size and in vitro KET release was evaluated...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28162058/prevalence-of-epilepsy-in-74-949-school-children-in-khartoum-state-sudan
#15
Inaam N Mohamed, Maha A Elseed, Ahlam A Hamed, Manar E Abdel-Rahman, Sarah M El-Sadig, Ilham M Omer, Abdelgadir H Osman, Ammar E Ahmed, Zein A Karrar, Mustafa A Salih
BACKGROUND: Data on childhood epilepsy in Sudan are scarce and the only published study on its prevalence was published in 1983. This study aimed to determine the current prevalence of epilepsy in school children in Khartoum State. METHODS: This is an analytical population-based, cross-sectional study conducted in Khartoum State, Sudan. The study included students in the basic (primary) schools aged 6-14 years. Simple random sampling was used to draw a cluster of four of the seven localities comprising Khartoum State...
February 6, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28156166/formulation-in-vitro-characterization-and-clinical-evaluation-of-curcumin-in-situ-gel-for-treatment-of-periodontitis
#16
Maha M A Nasra, Heba M Khiri, Heba A Hazzah, Ossama Y Abdallah
This study aimed to develop syringeable in-situ curcumin (cur) gel for the treatment of periodontal pockets as well as to evaluate the clinical efficacy of Cur in-situ gel formulation. Different in-situ gel formulations of Cur were prepared using 30% of pluronic F127, and 1% of carbopol P934. The formulations were evaluated regarding gelation temperature, pH, viscosity, syringeability study, in-vitro release and chemical stability of cur. The effect of aging of gel formulations for 3months in refrigerator was investigated...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28152614/phytochemical-and-pharmacological-variability-in-golden-thistle-functional-parts-comparative-study-of-roots-stems-leaves-and-flowers
#17
Ilias Marmouzi, Miloud El Karbane, Maha El Hamdani, Mourad Kharbach, Hanae Naceiri Mrabti, Rachid Alami, Souhail Dahraoui, Meryem El Jemli, Zhor Ouzzif, Yahia Cherrah, Soufiane Derraji, My El Abbes Faouzi
Scolymus hispanicus or the Golden Thistle, locally known as 'Guernina' or 'Taghediwt', is one of the most appreciated wild vegetables in Morocco. This study aims to characterise the functional chemical and pharmacological variability of Scolymus hispanicus parts (roots, stems, leaves and flowers). The chemical analysis revealed higher content of α-tocopherol in the flowers (2.79 ± 0.07 mg/100 g) and lead to the identification of 3 flavonoids and 13 phenolic acids, with high content of gallic acid in leaves (187...
February 2, 2017: Natural Product Research
https://www.readbyqxmd.com/read/28133924/safety-and-efficacy-of-intramuscular-human-placenta-derived-mesenchymal-stromal-like-cells-cenplacel-pda-002-in-patients-who-have-a-diabetic-foot-ulcer-with-peripheral-arterial-disease
#18
Stephanie C Wu, Richard Pollak, Robert G Frykberg, Wei Zhou, Maha Karnoub, Vladimir Jankovic, Steven A Fischkoff, Denesh Chitkara
The objective of this study was to examine the safety of cenplacel (PDA-002) in patients with peripheral arterial disease (PAD) and a diabetic foot ulcer (DFU). Cenplacel is a mesenchymal-like cell population derived from full-term human placenta. This phase 1, dose-escalation study investigated cenplacel in diabetic patients with chronic DFUs (Wagner grade 1 or grade 2) and PAD [ankle-brachial index (ABI) >0·5 and ≤0·9], enrolled sequentially into each of four dose cohorts (3 × 10(6) , 10 × 10(6) , 30 × 10(6) and 100 × 10(6) cells; administered intramuscularly on study days 1 and 8 in combination with standard of care)...
January 30, 2017: International Wound Journal
https://www.readbyqxmd.com/read/28130911/the-relationship-of-serum-hemojuvelin-and-hepcidin-levels-with-iron-level-and-erythropoietin-requirement-in-prevalent-hepatitis-c-virus-positive-hemodialysis-patients
#19
Heba W El Said, Khaled H Abou Seif, Yasser S Ahmed, Hesham A Abou Elleil, Tamer W El Said, Maha A Behairy, Mohamed M Mohamed, Fatma A Ahmed
BACKGROUND: Iron overload is frequently reported in hemodialysis (HD) patients particularly those with chronic hepatitis C virus (HCV) infection. Soluble Hemojuvelin (sHJV) has recently emerged as one of the significant regulators of iron homeostasis and hepcidin expression. AIMS: to evaluate the potential associations of sHJV and hepcidin with inflammation, iron parameters and Erythropoietin requirement in prevalent HD patients with HCV. METHODS: Serum sHJV and hepcidin were measured in 60 prevalent HD patients with [group I (n = 30)] and without [group II (n = 30)] HCV, and controls (n = 30) by enzyme-linked immunosorbent assay...
January 28, 2017: Nephrology
https://www.readbyqxmd.com/read/28127273/quit-tobacco-clinics-in-bahrain-smoking-cessation-rates-and-patient-satisfaction
#20
Randah Ribhi Hamadeh, Jamil Ahmed, Maha Al-Kawari, Sharifa Bucheeri
BACKGROUND: One third of Bahraini adult males and 7.0% of females use all types of tobacco. The prevalence rates of cigarette and shisha smoking are 11.0 and 6.0%, respectively. Tobacco cessation programs are essential to help smokers quit. The objectives of this study were to determine the quit rates among male attendees of quit tobacco clinics (QTC) in Bahrain and describe related factors. METHODS: We used a cross sectional study design to interview194 male tobacco smokers who had received care from two QTC...
2017: Tobacco Induced Diseases
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