Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
Background: Phytotherapy is the usage of herbal species with medicinal properties for the management of various diseases. Gingivitis and periodontitis are diseases that involve the role of both the bacteria and the host immune response. Over the years, various researches have shown the importance of herbal products in the management of periodontal diseases. Aims of the study: To evaluate the efficacy of locally applied Salvia officinalis gel as adjunctive in the treatment of chronic periodontitis. Subjects and methods: Fourteen patients (10 males and 4 females) with chronic periodontitis were enrolled in the present study with total number of twenty-eight periodontal pockets utilizing a split mouth design, the pockets were divided i
... Show MoreBackground: Thyroid surgery is most common endocrine surgery in general surgical practice. Objectives: the aim of this work is to evaluate the feasibility, benefits and outcomes of open mini-incision thyroidectomy and compared the results with that of conventional thyroidectomy. The comparison between the two groups was in term of incision length, amount of blood loss, time of operation, postoperative pain, hospital stay and the cosmetic outcomes.Type of the study: this is a single-blinded randomized controlled studyMethods: This study compared the advantages and outcomes of 22 patients subjected to mini-incision thyroidectomy (Group A) with the equal numbers of patients subjected to conventional thyroidectomy (Group B).Results: the oper
... Show MoreThirteen isolates were collected from various clinical sources during the periodfrom 22/10/2017 to 22/12/2017. All the isolates were diagnosed based on the microscopic and biochemical propertiesby Vitek-2 Compact system. All isolates formed biofilm 100%, with 30% of isolatesbiofilm produced strongly and 70% on medium. The results of the present study have shown the presence of Curli fimbriae genes in E. cloacae bacteria from cases of urinary tract infections, infected patient with blood bacteremia and inflammation of wounds. Curli fimbriae is considered to be an important factor in the virulence of E.cloacae bacteria, which plays an important role in adhering and combining cells on solid surfaces to form the biofilmand helps in the adhesion
... Show MoreBackground: There are many congenital anomalies associated with cleft lip and/or palate. This research is to study the prevalence of congenitally missing teeth and supernumerary teeth in this population group. Materials and Method: One hundred eight cleft lip and/or palate Iraqi patients had participated in this study (57 male, 51 female), 3-12 years of age. 26 of them had orthopantomogram were within (6-12) years of age were inspected for congenitally missing teeth and supernumerary teeth. Patients whom age range 3-5 years were checked for the congenitally missing teeth by clinical examination with strongly insisting the teeth were not missed due to caries or trauma. Results: There were 19(73.076%) patients with 41 congenitally missing tee
... Show MoreThe present study was Conducted to evaluate the effect of amixture of three species of arbuscular mycorrhizal fungi ( Glomus etunicatum , G. leptotichum and Rhizophagus intraradices ) in Influence on the percentage of the components of NPK and protein of tomato leaves and roots infected with Fusarium oxysporum f.sp. Lycopersici wich cause Fusarial wilt disease , planted for 8 weeks in the presence of the organic matter ( peatmose) , using pot cultures in aplastic green house , Results indicated significant increase in the percentage of the elements of NK and protein of tomato leaves and roots In the control treatment (C), While the percentage of the element P was after infection with the pathogen 4 weaks after mycorrhizal colonization in al
... Show MoreIntroduction. The coexistence of non-small cell lung cancer (NSCLC) and chronic obstructive pulmonary disease (COPD) is commonly observed, primarily due to overlapping risk factors like smoking and environmental exposures. This dual diagnosis introduces complex clinical scenarios, often associated with worsened outcomes and heightened vulnerability to treatment-related side effects. Immune checkpoint inhibitors, especially atezolizumab, have emerged as pivotal agents in enhancing clinical outcomes for individuals diagnosed with NSCLC. Recent evidence suggests that atezolizumab remains effective and well-tolerated in NSCLC patients with coexisting COPD. This review evaluates the efficacy and safety of atezolizumab in NSCLC patients with coex
... Show MoreAbstract The present study was Conducted to evaluate the effect of amixture of three species of arbuscular mycorrhizal fungi ( Glomus etunicatum , G. leptotichum and Rhizophagus intraradices ) in Influence on the percentage of the components of NPK and protein of tomato leaves and roots infected with Fusarium oxysporum f.sp. Lycopersici wich cause Fusarial wilt disease , planted for 8 weeks in the presence of the organic matter ( peatmose) , using pot cultures in aplastic green house , Results indicated significant increase in the percentage of the elements of NK and protein of tomato leaves and roots In the control treatment (C), While the percentage of the element P was after infection with the pathogen 4 weaks after mycorrhiza
... Show MoreThis study wass carried out to investigate the incedence of powdery mildew disease on ornamental plants (Nasturtium) Tropaeolum majus L. caused by Oidiopsis haplophylli in some nurseries of Baghdad area and in fields at college of Agriculture /University of Baghdad. This study was conducted in tow succesive seasons of 2011-2012 (April and May). The survey indicated that the Mildew disease existe in the following nurseries (Al-Adhamiya 97.5% ,Palestine street 93.8%, Zayouna 86.0%, and 100% in two fields at college of Agriculture. It has been found that the disease severity was developed in Agriculture college fields successively from 12-4-2011 to 20-5-2011 and from 12-4-2012 to 20-5-2012 (18.0–98.0 % and 22.7–96.0% )for the two sea
... Show More