Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature / 소아과

PURPOSE: Short stature affects approximately 2%–3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. METHODS: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. RESULTS: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. CONCLUSION: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

Coblation tonsillectomy versus dissection tonsillectomy: a randomized prospective clinical study

Introduction: tonsillectomy has been practiced since antiquity. It continues to be one of the most commonly performed surgical procedure. Tonsillectomy produces an open wound that heals by secondary intention. The major postoperative morbidity problems are haemorrhage and pain. Coblation tonsillectomy being a relatively recent introduced technique depends on applying radiofrequency current with lower frequency than bipolar diathermy, allowing for significantly less painful and more rapid healing of tonsillar fossae

Aim of work: is to compare between the traditional dissection tonsillectomy and coblation tonsillectomy. This implies all aspects of surgery including operative time, postoperative course and incidence of complications

Patients and methods: during the period from January to August 2014 a sixty patients [29 males and 3 1 females] were scheduled for tonsillectomy. Their ages ranged from 5 to 16 years with the mean age 8.2 +/- 3.5 years. Patients enrolled in this study were divided into two groups. Group A: [30] underwent surgery using the conventional dissection ligation method, while Group B: [30] underwent Coblation tonsillectomy

Results: the mean score for the operative time was 33.8 minutes in [group A] as compared to 41.5 minutes in [group B] while the mean score for intra-operative blood loss was 104.5 ml in [group A] and 36.4 ml in [group B].Postoperative mean visual analogue scale [VAS] scores of pain for Group A were 7, 7.3, 6.73, 5.8, 5.3,4.87 and 4.5 in the first seven postoperative days respectively, while Mean scores for Group B were 7, 5.97, 5, 4.06, 3.87, 3.13 and 3 in the first seven postoperative days respectively. Regarding as return of normal swallowing [score 4] was achieved on the sixth day [mean 6.16 day] in Group A, and on the fourth day in Group B [mean 3.97 day]. On the seventh postoperative day, the percentage of normal pink mucosal lining was found to be 50% of the tonsillar bed in Group A, as compared to 75% in the coblation group [Group B]. Reactionary haemorrhage occurred in one case in the coblation group in comparison to two cases in the conventional group

Conclusion: coblation tonsillectomy proved to be safe and effective; however, reducing cost and addressing its postoperative complication rate are mandatory before considering it as the modality of choice for this commonly performed procedure

prognostic value of triple negative in stage II/III breast cancer

Breast cancer is no longer seen as a single disease but rather a multifaceted disease composed of distinct biological subtypes with diverse natural history, clinical, pathological and molecular features. Recent attention has been directed at molecular classification of breast cancer. To evaluate the prognostic value of triple negative subtype in stage II/III breast cancer. To define the role of clinical stage in pro gnosis of breast cancer We used immuno-histochemical technique to divide 255 cases of breast cancer, stages II and III, into four subtypes according to estrogen receptor/progesterone receptor [ER/PR] and Her-2 expression. Triple-negative subtype comprised 76.5% of the cases with 12.3% recurrence rate. Luminal A subtype also carried a poor out come with 16. 7% recurrence rate. Triple negative subtype has the worst overall and disease-free survival in stage II/III breast cancer. Clinical stage is still an independent prognostic factor in breast cancer of all types

Cost-effectiveness of low-dose continuous infusion gemcitabine plus cisplatin versus standard dose gemcitabine plus cisplatin in stage III and IV non-small cell lung cancer

The purpose of this study was to assess the efficacy of low-dose continuous infusion gemcitabine 200 mg/m[2] once weekly on three consecutive out of 4 weeks for 6 cycles compared to the standard-dose gemcitabine 1000 mg/m[2] plus cisplatin in stage III and IV non-small cell lung cancer. Experimental Forty patients of non-small cell lung cancer with stage III and IV who are indicated for chemotherapy received low-dose continuous infusion gemcitabine 200 mg/m[2] plus cisplatin compared to forty patients of non-small cell lung cancer with stage III and IV who received the standard dose gemcitabine 1000 mg/m[2] plus cisplatin. The maximum duration of infusion of gemcitabine in combination with cisplatin was 24 hours with a dose of 200 mg / m[2] / day once weekly on three consecutive out of 4 weeks for 6 cycles. Cisplatin was given once every cycle with a dose of 100 mg/m[2]. This was compared to the standard-dose of gemcitabine 1000 mg/m[2] combined with cisplatin 100 mg/m[2] every 3 weeks for 6 weeks. Severe stomatitis, oesophagitis and myelosuppression were the worst common dose-limiting toxicities. Febrile neutropenia was observed in 8 out of the 40 patients who had received low-dose continuous infusion of gemcitabine as they developed bacteraemia. Occasional nausea, vomiting and diarrhea were also reported in both arms. There were 6 complete responses and 4 partial responses in the arm who received low-dose continuous infusion compared to 8 patients who had complete response and 4 patients with partial response in the standard dose arm. Low-dose continuous infusion gemcitabine for 24 hours with a dose of 200 mg/m[2]/day once weekly on three consecutive out of 4 weeks for 6 cycles gives results that are comparable to those of the standard-dose of gemcitabine but with a higher toxicity profile

Pre-operative chemo-radiotherapy followed by surgery compared to surgery alone in patients with stage II and III esophageal cancer

Current primary treatment options for esophageal cancer are surgery only or concomitant chemo-radiotherapy [CRT] and the long-term survival of patients with locally-advanced disease is rare. Pre-operative concomitant CRT seems to be beneficial, mostly in patients who achieve a complete pathologic response [pCR] after CRT. In this study the efficiency and toxicity of pre-operative CRT in patients with locally-advanced esophageal cancer was analyzed as well as the influence of CRT on the survival. Thirty patients with stages II and III esophageal cancer were randomly assigned to surgery alone and another 30 patients were assigned to surgery after 80 mg/m[2] cisplatin on day 1, 800 mg/m[2] fluorouracil on days 1 - 4, with concurrent radiotherapy of 45 Gy given in 22 fractions over 4.5 weeks. The primary end-point was progression-free survival and the secondary end-points were overall survival, tumor response, toxic effects, patterns of failure and quality of life. Progression-free survival and overall survival did not differ between both groups [PFT P=0.16, Median survival P=0.34]. The chemo-radiotherapy and surgery group had more complete resections with clear margins than did the surgery alone group [24 of 30 [80%] versus 14 of 30 [47%], P= 0.001], and had fewer positive lymph nodes [11 of 30 [37%] versus 20 of 30 [67%], P= 0.012]. Neo-adjuvant chemo-radiation [NCRT] followed by surgery is associated with a small non-statistically significant improvement in the overall survival. Whether this benefit is sufficient to warrant the considerable expense and risk associated with NCRT should be the subject of further larger randomized trials

Overexpression of glutaredoxin-2 from cyanobacterium synechocystis PCC 6803 in Escherichia coli conferring enhanced salt stress tolerance

Glutaredoxin [Grx], widely found in bacteria, plants, and mammalian cells, is an electron carrier for ribonucleotide reductase and a general glutathione-disulfide reductase of importance for redox regulation. Cyanobacterium Synechocystis strain PCC 6803 contains two genes [slr1562 and ssr2061] encoding two glutaredoxins [Grx1 and Grx2, respectively]. The amino acid sequences deduced from both proteins share high identity with those of Grxs from other organisms. In the present study, we found that the steady-state transcript levels of ssr2061 were increased in the wild-type of Cyanobacterium cells under oxidative stress conditions imposed by high salinity [NaCl], chilling or application of H[2]O[2], methylviologen or t-butyl hydroperoxide. Moreover, the protein Grx2 encoded by ssr2061 was successfully overexpressed as a soluble fraction in Escherichia coli JM109. The transformed Escherichia coli cells showed high tolerance to NaCl [over than 700 mM] mediating growth inhibition compared to cells transformed with the vector alone]

Induction of somatic embryogensis and DNA fingerprinting of Jojoba

In-vitro induction of somatic embryogenesis and regeneration ability of jojoba [Simmondsia chinensis [Link] Schneider] plant were investigated using two different types of explants, i.e., immature zygotic embryos and leaf disks, and different culture media. Compact embryogenic callus was induced on Murashige and Skoog [MS] medium supplemented with various concentrations of 2, 4-dichlorophenoxyacetic acid [2, 4-D] and sucrose. Embryogenic callus was developed from immature zygotic embryos on MS medium containing 1.0 mg/l 2, 4-D, 0.1 mg/l 6-benzyl aminopurine [BA] and 4% sucrose. Induced calli were subcultured on MS medium supplemented with [4% or 6%] sucrose and 0.1, 0.5 and 1.0 mM kinetin for plant regeneration. Somatic embryos at the globular, heart-shaped, torpedo, and cotyledonary stages were developed. Embryogenic callus and hence different stages of somatic embryos were developed from leaf segments on MS medium supplemented with 3%, 4% or 6% sucrose, 1.0 mg/l 2, 4-D and 0, 0.1, 0.5 or 1.0 mg/l BA. Leaf-derived embryogenic calli did not mature on any of the maturation/germination media examined even after 4 weeks of culture. Random amplified polymorphic DNA [RAPD] technique was used to investigate the patterns and distribution of genetic variability in natural field-grown cuttings of jojoba plants. Five oligonucleotide primers were used to screen five randomly selected jojoba samples for analysis. Total DNA extracted from field-grown cutting leaves was used as template in the PCR reaction. The five primers used showed a highly polymorphic nature of the studied plants. It is concluded that jojoba plants in the natural habitate of Egypt may belong to different genotypes, none of them could differentiate to complete plantlets by tissue culture

Osmotic demyelination syndrome [pontine and extrapontine] following liver transplantation

Osmotic myelinolysis is a rare, acute, demyehnating process that involves the pons [central pontine myelinolysis] and other locations of the central nervous system [extrapontine myelinolysis].lt is more prevalent following liver transplantation. We report a case of central Pontine and extrapontine myelinolysis occurring in a 13 year old girl following liver transplantation for HCV related end stage liver disease

Staff nurses' perception of job empowerment and organizational commitment at Assiut Health Insurance Hospital [El-Mabarrah]

This study was conducted in an attempt to explore the relationship between the staff nurses [100] perceived job empowerment and their commitment to the organization based on Kanter's structural theory of the organizational behavior. Data were collected from Assiut Health Insurance Hospital [El-Mabarrah] using the demographic data sheet, organizational description opinionaire [ODO], organizational commitment questionnaire [OCQ] and a modified version of the condition of work effectiveness questionnaire [CWEQ]. The results revealed a strong positive relationship between the nurses' perception of access to the opportunities and their commitment to the organization. In addition, the overall empowerment was correlated positively with the nurses' perception of their immediate manager's power

Evaluation of laparoscopic trans-abdominal preperitoneal repair of recurrent inguinal hernia

Fifteen adult male patients with recurrent inguinal hernia were treated with laparoscopic transabdominal preperitorteal repair [TAPP]. Controllable intraoperative complications were recorded in 3 patients [20%] with no conversion to open. No major postoperative complications were encountered. The mean operative time was 77.3 minutes. The mean time of ambulation out of the bed was 10.3 hours and the mean hospital stay was 19.8 hours. The mean time to return to usual social activity was 8.5 days. During the short period of follow up [6-24 months] no recurrence was reported. Long term follow up is needed for proper evaluation of this new procedure