33 research outputs found
Juvenile hyaline fibromatosis: impact of periodontal care on quality of life and a patient perspective
Post Treatment of UASB Reactor Effluent in an Integrated Duckweed and Stabilization Pond System for Treating of Domestic Wastewater
Abstract: Post-treatment of effluent from an Up-flow Anaerobic Blanket (UASB) reactor, which was fed with domestic sewage, has been conducted in an integrated pond system. The UASB reactor was operated at a hydraulic retention time of 8 hrs, the effluent of which was directed to three series of ponds operated in parallel. The system consisted of a series of Duckweed pond (DW P) and stabilization ponds (SP). The main objective of post-treatment is removal of bacterial pathogens and further polishing of effluent quality. The results obtained indicated the superiority of the treatment scheme consisted of 2DW P, 2AP, 2DW P) are efficient with regard to organic pollutants removal as 2 2 reflected residual COD and BOD values (COD: 75mg0 /l, and BOD: 23.7mg0 /l). Also, 83.1 % of TSS were removed. Percentage removal of fecal coliform was around 99.99%. Residual FC counts in the final effluent concentration were extremely variable, ranging from 3E+01 to 7E+03 per 100ml with an average value 8E+02per 100ml. However duckweed ponds with long retention time can be competitive in reducing pathogens. It was demonstrated that duckweed bio-mass production and wastewater treatment for reuse in irrigation can be achieved in one simple system. The highest duckweed production (23g dry weight/m .d) has been recorded in the first (2DW P) and (23.46g dry 2 weight/m .d) of the second (2DW P). From the available data it can concluded that a treatment system 2 consisting of UASB reactor followed by a series of duckweed and algal ponds is highly recommended for small communities such as rural areas and small cities
Laparoscopic splenectomy and LigaSure
Laparoscopic splenectomy (LS) is a preferred choice, especially for hematologic diseases. We present the advantages of the use of LigaSure (energy-based equipment that works by applying a precise amount of bipolar energy and pressure to the tissue, achieving a permanent seal) for achieving a precise hemostasis, thus making the LS easier. We have performed LS using LigaSure on 10 patients (4 female, 6 male; mean age, 36 years [range, 16-58]) between December 2002 and August 2003. All patients had ITP. There were no conversion to open surgery. Mean dimensions of spleens were 99 x 49 mm (range, 85 x 36-118 x 60). Intraoperative blood loss was no more than 100 mL in any patients (range, 20-100; mean, 60). The average operative time was 93 minutes (range, 60-155). There were no complications in the postoperative period. The average postoperative stay was 4.3 days (range, 3-7). LS using LigaSure is a safe and time-sparing procedure with almost no complications in this small initial series
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients
Abstract Background Hemophilia A (HA) is an inherited Xâlinked recessive coagulation disorder caused by factor VIII (F8) deficiency. F8 rearrangements involving intron 22 (int22) and intron 1 (int1) account for almost half of severe HA phenotype also a hotspot exon 14 provides numerous mutational patterns. This study aims to identify F8 gene mutations among Egyptian HA patients. Methods DNA samples from 60 HA patients were screened for int22 and int1 rearrangements using simplified inverse shifting PCR (ISâPCR) followed by exon 14 sequencing. Also, four uncharacterized patients were studied by targeted exome sequencing. Results In 33.3% of the studied patients, we identified three int22 rearrangements, three exon 14 mutations (two frameshift; one novel (NM_000132.3:c.2734_2735delAA, p.(N912Ffs*6)), a second reported mutation (NM_000132.3:c.3091_3094delAGAA, p.(K1031Lfs*9)), and one nonsense mutation (NM_000132.3:c.2440C>T, p.(R814*)). All identified mutations were detected in patients with severe HA phenotype. Targeted exome sequencing could not detect any known pathogenic variants. Conclusion Intron 22 rearrangement and exon 14 mutations correlate with most severe hemophilia A Egyptian patients
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low number of patients, hindering full phenotypic spectrum identification. Disease-causing variants in elements of major developmental pathways, e.g., Ectodysplasin/NFκB, Wnt, and Tp63 pathways, have been identified in fewer than half of ED phenotypes. Whole-exome sequencing (WES) was performed for ten Egyptian ED patients presenting with tooth agenesis, normal sweating, scalp hypotrichosis, and sharing characteristic facial features. WES was followed by in silico analysis of the effects of novel detected genetic variants on mRNA and protein structure. The study identified four novel rare pathogenic and likely pathogenic TSPEAR variants, a gene which was recently found to be involved in ectodermal organogenesis. A novel in-frame deletion recurred in eight patients from six unrelated families. Comparing our cohort to previously reported TSPEAR cohorts highlighted the influence of ethnicity on TSPEAR phenotypic affection. Our study expands the clinical and mutational spectrum of the growing TSPEAR associated phenotypes, and pinpoints the influence of WES and in silico tools on identification of rare disease-causing variants