novel variant in the endothelin-converting enzyme-like 1 [ECEL1] gene in an Emirati child

Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D

Clinical Presentation and Intervention: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted include ptosis and microretrognathia. Importantly, left orchidopexy was also observed and corrected surgically. Whole exome sequencing revealed that the patient is homozygous for the novel c.1184+1G>T variant in endothelin-converting enzyme-like 1 [ECEL1]

Conclusion: This is a case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D. The child was born to consanguineous Emirati parents heterozygous for the novel ECEL1 mutation

impact of automating laboratory request forms on the quality of health care services

In recent decades, healthcare organizations have undergone a significant transformation with the integration of Information and Communication Technologies within healthcare operations to improve healthcare services. Various technologies such as Hospital Information Systems [HIS], Electronic Health Records [EHR] and Laboratory Information Systems [LIS] have been incorporated into healthcare services. The aim of this study is to evaluate the completeness of outpatients' laboratory paper based request forms in comparison with an electronic laboratory request system. This study was carried out in the laboratory department at King Abdulaziz Medical City [KAMC], National Guard Health Affairs, Riyadh, Saudi Arabia. We used a sample size calculator for comparing two proportions. We estimated the sample size to be 228 for each group. Any laboratory requests including paper and electronic forms were included. We categorized the clarity of the forms into understandable, readable, and unclear. A total of 57 incomplete paper forms or 25% were identified as being incomplete. For electronic forms, there were no incomplete fields, as all fields were mandatory, therefore, rendering them complete. The total of understandable paper-based laboratory forms was 11.4%. Additionally, it was found that the total of readable was 33.8% and the total for unclear was 54.8%, while for electronic-based forms, there were no unclear forms. Electronic based laboratory forms provide a more complete, accurate, clear, and understandable format than paper-based laboratory records. Based on these findings, KAMC should move toward the implementation of electronic-based laboratory request forms for the outpatient laboratory department

Utilizing health analytics in improving the performance of healthcare services: a case study on a tertiary care hospital

Among the most common and chronic problems in the healthcare system worldwide is the crowding of emergency rooms [ER]; leading to many serious complications. King Faisal Specialist Hospital and Research Center utilized health analytics methods to identify areas of deficiency and suggest potential improvements to ER performance. The project implemented solutions and monitored two indicators; ER length of stay [LOS], reflecting efficiency, and percentage of patients leaving without treatment, reflecting effectiveness of the ER. A retrospective analysis of 26,948 ER encounters in 2014 was done in January 2015. Analytics techniques were used to suggest process redesign based on results. Two recommendations were implemented; a Fast-Track for lower acuity ER patients and an internal waiting area, for those patients who can stay vertical and spare an ER bed. 32.8% of ER patients had lower acuity levels and less than 0.5% of them were admitted to the hospital. After implementing the two solutions, the total ER LOS was reduced from 20 h in 2014 to less than 12 h in 2016; 40% improvement. The percentages of patients left without being seen stayed around 3.5%, while the percentages of patients left before complete treatment was significantly reduced from 13.5% in 2014 to 5.5% in 2016. Consequently, the total percentage of patients left without treatment was reduced from 17% in 2014 to 9% in 2016, with 50% improvement. All other factors were the same, including numbers of ER visits, Patient Acuity Level, working staff, working hours, and the count of ER beds. Health analytics methods can be used to identify areas of deficiency, potential improvements, and recommend effective solutions to positively enhance ER performance. More solutions should be examined such as team triaging, patients palmar scanning, and placing a physician in triage. Additionally, more indicators should be monitored, such as the effectiveness of ER treatment-including the rates of revisits

Optimization of coronary sinus lead position in cardiac resynchronization therapy guided by three dimensional Echocardiography

Background: Cardiac resynchronization therapy [CRT] is now an established effective treatment for patients with advanced heart failure. One approach to improve CRT outcome may be determination of the degree of dsynchrony before CRT as a predictor for CRT response. Conversely, the focus may be on an improved positioning of CRT left ventricular [LV] lead

Aim of the study: We aimed at our study to define the rule of three-dimensional echocardiography in determining the optimal site of LV pacing lead

Patients and Methods: The current study was conducted on 30 patients with heart failure who had received CRT in Ain Shams University Hospitals in the period from 2012 to 2014. All patients were subjected to thorough history taking, complete general and local examination, conventional 2D echo and 3D echo analysis. The latest wall to reach the minimal volume was determined. The patients were classified after CRT insertion into group A with concordance between the delayed LV area and LV lead position and group B with discordance between them. Our patients were followed up for 6 months duration

Results: Our findings demonstrated that the response to CRT resulted in improvement of NYHA class [p-value 0.04], LV EF by 2D and 3D echocardiography [P value <0.001 for both] with significant increase in LV 3D SV [p value 0.001], and significant reduction of LA diameter [p-value 0.03], LVESD diameter, 2D and 2D LVESV [P value 0.026, 0.026 respectively], however there was no any statistically significant difference between both groups

Conclusions: No additional benefit of selecting LV lead position pre CRT insertion to be concordant with the latest myocardial segment in reaching the minimal systolic volume assessed by 3D echocardiography

Expression of CD 44 and MIB-1 in serous and mucinous ovarian tumors

In ovarian cancer, alterations in the extracellular environment are critical for tumor Initiation, progression and intra-peritoneal dissemination. Some markers have been used to study the progression of ovarian tumors, one of them is CD44 which shown to play critical roles in ovarian ameer metastasis. Tumor proliferation is known to be important factor in tumor growth. This can be measured by assessment of expression of MIB-1 protein in the tumor cells. To examine the immunohistochemical expression of CD44 and MIB-1 in a spectrum of serous and mucinous ovarian tumors [benign, borderline and malignant tumors] and to evaluate the correlation between intensity of markers expression with relevant clinicopathological criteria [Age, size, hilaterality, gross picture and stage]. Immunohistochemical staining of 120 samples [65 benign, 10 borderline, 30 malignant and 15 metastatic deposits] of spectrum of serous and mucinous ovarian tumors for CD44 and MIB-1 was performed using tissue microarray [TMA] and statistical analyses was done with SPSS [chi-square test]. In whole tumors, expression of [1] 44 in tumor cells [CD-44-T] was low in 20[80%] and high in 5[20%] of benign tumors, low in [70%] and high in 3[30%] of borderline tumors, and low in 24 [83%] and high in 5[17%] of malignant tumors with no significant association in transition from benign to malignant tumours [P 0.70]. Stromal CD44 [CD-44-S] expression was low in 33[94%] and high in 2[6%] of benign mmors, low in 8[80%] and high in 2[20%] of borderline tumors and low in 23[77%] and high in [23%] of malignant tumors with significant association in transition from benign to borderline to 14[CD44-M] showed reactivity in 9[25%] of benign tumors,5[50%] of borderline tumors and 21[72%] of malignant tumors with high significant association in transition from benign to malignant tumors [P<0.001]. In whole tumors, twenty three specimens [31%] showed high PI. All benign tumors had low PI. High significant association was detected between high PI and transition from benign to borderline to malignant tumors [P<0.001] with significant positive correlation between MIB-1 and CD44-M [P 0.013]. Our findings indicates that stromal and membranous expression of with transition from benign to borderline to malignant tumor, so increase in CD44 may play an important role in tumor progression and can be a target of more effective therapies

Effect of changing the kilovoltage peak on radiographic caries assessment in digital and conventional radiography

PURPOSE: This study aimed to investigate the effect of changing the kilovoltage peak (kVp) on the radiographic assessment of dental caries. MATERIALS AND METHODS: Seventy-five extracted posterior teeth with proximal caries or apparently sound proximal surfaces were radiographed with conventional E-speed films and a photostimulable phosphor system using 60 kVp and 70 kVp for the caries assessment. The images were evaluated by three oral radiologists and compared with the results of the stereomicroscope analysis. RESULTS: No statistically significant difference was found between 60 kVp and 70 kVp for the caries detection, determination of caries extension into dentin, and caries severity in either the conventional or the digital images. Good to very good inter-observer and intra-observer agreements were found for both kilovoltage values on the conventional and digital images. CONCLUSION: Changing the kilovoltage between 60 kVp and 70 kVp had no obvious effect on the detection of proximal caries or determination of its extension or severity.

Multiple fibromyxomas of the jaws: A case report

Fibromyxoma of the jaw is a rare benign mesenchymal odontogenic tumor with locally aggressive behavior. In the present report, a 13-year-old female patient presented to our university hospital with delayed eruption of some of her teeth. A panoramic radiograph taken at the initial examination revealed four pericoronal radiolucencies related to the four third molars. Thereafter, a magnetic resonance imaging (MRI) examination was performed. After the surgical removal of these molars, the microscopic examination diagnosed the four lesions as fibromyxomas. Here, we have discussed the clinical, panoramic radiography, MRI, and histopathological findings of the case.

impact of gender on difficulty of classical open cholecystectomy

Cholecystectomy demands attention, and expectation of abnormal anatomy in the veins, arteries or ducts. Prediction of difficult cholecystectomy does not only helpin patient counseling but also helps the surgeon to prepare better for the technical difficulties that may be encountered[1-3]. To find out whether there is impact of gender on the difficulty of surgery during open cholecystectomy. This is a prospective hospital based study. Patients who presented to Ibn Sina Hospital for open cholecystectomy during the period from April 2011 to April 2012 were included in this study. Special emphasis was put on gender, the operative time, difficulty of surgery and complications of open cholecystectomy. A pre-tested questionnaire was filled during interview of patients and operating surgeons. A total 327 operations were included in the study. Of them there were 34[64.2%] males and 99[36.1%] females presented early i.e. after the first diagnosis was made. The mean operative time was 44.6 min for males and 43.57 min for females. Difficult surgery was described in 6[11.3%] of male and 23[8.4%] females. There was no significant statistical difference in the operative time, difficulty of operation and complication rate between males and females

Magnetic resonance imaging for primary fistula in ano

This was a prospective study designed to determine the therapeutic impact of magnetic resonance imaging [MRI] in primary fistula in ano, and to assess its effect on outcome. Thirty patients with suspected primary fistula in ano underwent preoperative MRI, and the findings were revealed during surgery following examination under anaesthesia [EUA]. Any effect on operative approach was noted. Outcome was assessed at a median of 12 months. Two patients had sinuses, one had no sepsis and 27 had fistulas: five superficial, seven intersphincteric, 14 trans-sphincteric and one suprasphincteric. MRI and EUA agreed in 15 patients and MRI findings altered the surgical approach in a further three [10 per cent]; two of the latter patients were believed to have a sinus at EUA, which MRI correctly identified as a fistula, allowing definitive treatment. The therapeutic impact of MRI was therefore 10 per cent. Persisting disagreement between MRI and EUA in 12 patients mostly related to minor discrepancies in classification. Only one patient required further unplanned surgery, which was for skin-bridging rather than any new sepsis. In experience hands, MRI has a therapeutic impact of 10 per cent for primary fistula in ano, precipitating surgery that is likely to reduce recurrence in a small, but important, proportion of patients