Concurrent SHORT syndrome and 3q duplication syndrome

Boaz, Alexander M.,Grasso, Salvatore A.,DeRogatis, Michael J.,Beesley, Ellis N. Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

CAN ACOUSTIC RANCHING OF FISH BECOME A VIABLE TECHNOLOGY?

Boaz Zion,Assaf Barki 한국수산과학회 양식분과 2015 한국수산과학회 양식분과 학술대회 Vol.2015 No.5

Medical student selection process enhanced by improving selection algorithms and changing the focus of interviews in Australia: a descriptive study

Boaz Shulruf,Gary Mayer Velan,Sean Edward Kennedy 한국보건의료인국가시험원 2022 보건의료교육평가 Vol.19 No.-

Purpose The study investigates the efficacy of new features introduced to the selection process for medical school at the University of New South Wales, Australia: (1) considering the relative ranks rather than scores of the Undergraduate Medicine and Health Sciences Admission Test and Australian Tertiary Admission Rank; (2) structured interview focusing on interpersonal interaction and concerns should the applicants become students; and (3) embracing interviewers’ diverse perspectives. Methods Data from 5 cohorts of students were analyzed, comparing outcomes of the second year in the medicine program of 4 cohorts of the old selection process and 1 of the new process. The main analysis comprised multiple linear regression models for predicting academic, clinical, and professional outcomes, by section tools and demographic variables. Results Selection interview marks from the new interview (512 applicants, 2 interviewers each) were analyzed for inter-rater reliability, which identified a high level of agreement (kappa=0.639). No such analysis was possible for the old interview since it required interviewers to reach a consensus. Multivariate linear regression models utilizing outcomes for 5 cohorts (N=905) revealed that the new selection process was much more effective in predicting academic and clinical achievement in the program (R2=9.4%–17.8% vs. R2=1.5%–8.4%). Conclusion The results suggest that the medical student selection process can be significantly enhanced by employing a non-compensatory selection algorithm; and using a structured interview focusing on interpersonal interaction and concerns should the applicants become students; as well as embracing interviewers’ diverse perspectives.

Concurrent SHORT syndrome and 3q duplication syndrome

Alexander M. Boaz,Salvatore A. Grasso,Michael J. DeRogatis,Ellis N. Beesley 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syn-drome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly re-ferred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental dis-ability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with ἀndings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Al-though there is no speciἀc treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Concurrent SHORT syndrome and 3q duplication syndrome

Alexander M,Boaz,Salvatore A,Grasso,Michael J,DeRogatis,Ellis N,Beesley 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.1

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syn-drome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly re-ferred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental dis-ability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Al-though there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

Comparison of Clinical Characteristics of Patients With Gastroesophageal Reflux Disease Who Failed Proton Pump Inhibitor Therapy Versus Those Who Fully Responded

( Ram Dickman ),( Mona Boaz ),( Shoshanna Aizic ),( Zaza Beniashvili ),( Ronnie Fass ),( Yaron Niv ) 대한소화기기능성질환·운동학회(구 대한소화관운동학회) 2011 Journal of Neurogastroenterology and Motility (JNM Vol.17 No.4

Background/Aims Refractory gastroesophageal reflux disease (GERD) is very common, affecting up to 40% of the patients receiving proton pump inhibitor (PPI) therapy. However, there is not much information about the clinical characteristics of these patients. The aim of the study is to compare the clinical characteristics of PPI responders vs non-responders. Methods Consecutive GERD patients receiving PPI once or twice daily were evaluated by a questionnaire and a personal interview regarding their demographics, habits, clinical characteristics and endoscopic findings. The patients were divided into 3 groups: Patients who fully responded to PPI once daily (Group A, n = 111), patients who failed PPI once daily (Group B, n = 78) and patients who failed PPI twice daily (Group C, n = 56). Results A total of 245 patients (59.3% females, 52 ± 17.2 years of age) were included in this study. Cross-group differences (A vs B vs C) were detected for hiatal hernia (33% vs 51% vs 52%, P = 0.011); erosive esophagitis (19% vs 51% vs 30%, P < 0.0001); cough (24% vs 44% vs 43%, P = 0.007); sleep disturbances (19% vs 30% vs 38%, P = 0.033); chest symptoms (21% vs 35% vs 41%, P = 0.010); Helicobacter pylori status (25% vs 33% vs 48%, P < 0.0001), disease duration (1.6 ± 0.8 vs 1.9 ± 1.0 vs 2.0 ± 1.1 years, P = 0.007), performed lifestyle interventions (68.5% vs 46.7% vs 69.6%, P = 0.043) and compliance (84% vs 55% vs 46%, P < 0.0001). Conclusions PPI failure (either once or twice daily) appears to be significantly associated with atypical GERD symptoms, disease duration and severity, H. pylori status, obesity, performed lifestyle interventions and compliance as compared with PPI responders. (J Neurogastroenterol Motil 2011;17:387-394)

An expert-led and artificial intelligence system-assisted tutoring course to improve the confidence of Chinese medical interns in suturing and ligature skills: a prospective pilot study

Ying-Ying Yang,Boaz Shulruf 한국보건의료인국가시험원 2019 보건의료교육평가 Vol.16 No.-

PurposeLack of confidence in suturing/ligature skills due to insufficient practice and assessments is common among novice Chinese medical interns. This study aimed to improve the skill acquisition of medical interns through a new intervention program. MethodsIn addition to regular clinical training, expert-led or expert-led plus artificial intelligence (AI) system tutoring courses were implemented during the first 2 weeks of the surgical block. Interns could voluntarily join the regular (no additional tutoring), expert-led tutoring, or expert-led+AI tutoring groups freely. In the regular group, interns (n=25) did not receive additional tutoring. The expert-led group received 3-hour expert-led tutoring and in-training formative assessments after 2 practice sessions. After a similar expert-led course, the expert-led+AI group (n=23) practiced and assessed their skills on an AI system. Through a comparison with the internal standard, the system automatically recorded and evaluated every intern’s suturing/ligature skills. In the expert-led+AI group, performance and confidence were compared between interns who participated in 1, 2, or 3 AI practice sessions. ResultsThe end-of-surgical block objective structured clinical examination (OSCE) performance and self-assessed confidence in suturing/ligature skills were highest in the expert-led+AI group. In comparison with the expert-led group, the expert-led+AI group showed similar performance in the in-training assessment and greater improvement in the end-of-surgical block OSCE. In the expert-led+AI group, the best performance and highest post-OSCE confidence were noted in those who engaged in 3 AI practice sessions. ConclusionThis pilot study demonstrated the potential value of incorporating an additional expert-led+AI system-assisted tutoring course into the regular surgical curriculum.

Comparison of the effects of simulated patient clinical skill training and student roleplay on objective structured clinical examination performance among medical students in Australia

Silas Taylor,Matthew Haywood,Boaz Shulruf 한국보건의료인국가시험원 2019 보건의료교육평가 Vol.16 No.-

PurposeOptimal methods for communication skills training (CST) are an active research area, but the effects of CST on communication performance in objective structured clinical examinations (OSCEs) has not been closely studied. Student roleplay (RP) for CST is common, although volunteer simulated patient (SP) CST is cost-effective and provides authentic interactions. We assessed whether our volunteer SP CST program improved OSCE performance compared to our previous RP strategy. MethodsWe performed a retrospective, quasi-experimental study of 2 second-year medical student cohorts’ OSCE data in Australia. The 2014 cohort received RP-only CST (N=182) while the 2016 cohort received SP-only CST (N=148). The t-test and analysis of variance were used to compare the total scores in 3 assessment domains: generic communication, clinical communication, and physical examination/procedural skills. ResultsThe baseline characteristics of groups (scores on the Australian Tertiary Admission Rank, Undergraduate Medicine and Health Sciences Admission Test, and medicine program interviews) showed no significant differences between groups. For each domain, the SP-only CST group demonstrated superior OSCE outcomes, and the difference between cohorts was significant (P<0.01). The superiority of volunteer SP CST over student RP CST in terms of OSCE performance outcomes was found for generic communication, clinical communication, and physical examination/procedural skills. ConclusionThe better performance of the SP cohort in physical examination/procedural skills might be explained by the requirement for patient compliance and cooperation, facilitated by good generic communication skills. We recommend a volunteer SP program as an effective and efficient way to improve CST among junior medical students.

Olive Leaf Extract as a Hypoglycemic Agent in Both Human Diabetic Subjects and in Rats

Julio Wainstein,Tali Ganz,Mona Boaz,Yosefa Bar Dayan,Eran Dolev,Zohar Kerem,Zecharia Madar 한국식품영양과학회 2012 Journal of medicinal food Vol.15 No.7

Olive tree (Olea europaea L.) leaves have been widely used in traditional remedies in European and Mediterranean countries as extracts, herbal teas, and powder. They contain several potentially bioactive compounds that may have hypoglycemic properties. To examine the efficacy of 500 mg oral olive leaf extract taken once daily in tablet form versus matching placebo in improving glucose homeostasis in adults with type 2 diabetes (T2DM). In this controlled clinical trial, 79 adults with T2DM were randomized to treatment with 500 mg olive leaf extract tablet taken orally once daily or matching placebo. The study duration was 14 weeks. Measures of glucose homeostasis including Hba1c and plasma insulin were measured and compared by treatment assignment. In a series of animal models, normal, streptozotocin (STZ) diabetic, and sand rats were used in the inverted sac model to determine the mechanism through which olive leaf extract affected starch digestion and absorption. In the randomized clinical trial, the subjects treated with olive leaf extract exhibited significantly lower HbA1c and fasting plasma insulin levels; however, postprandial plasma insulin levels did not differ significantly by treatment group. In the animal models, normal and STZ diabetic rats exhibited significantly reduced starch digestion and absorption after treatment with olive leaf extract compared with intestine without olive leaf treatment. Reduced digestion and absorption was observed in both the mucosal and serosal sides of the intestine. Though reduced, the decline in starch digestion and absorption did not reach statistical significance in the sand rats. Olive leaf extract is associated with improved glucose homeostasis in humans. Animal models indicate that this may be facilitated through the reduction of starch digestion and absorption. Olive leaf extract may represent an effective adjunct therapy that normalizes glucose homeostasis in individuals with diabetes.

Development and validation of the student ratings in clinical teaching scale in Australia: a methodological study

Pin-Hsiang Huang,Anthony John O’Sullivan,Boaz Shulruf 한국보건의료인국가시험원 2023 보건의료교육평가 Vol.20 No.-

Purpose This study aimed to devise a valid measurement for assessing clinical students’ perceptions of teaching practices. Methods A new tool was developed based on a meta-analysis encompassing effective clinical teaching-learning factors. Seventy-nine items were generated using a frequency (never to always) scale. The tool was applied to the University of New South Wales year 2, 3, and 6 medical students. Exploratory and confirmatory factor analysis (exploratory factor analysis [EFA] and confirmatory factor analysis [CFA], respectively) were conducted to establish the tool’s construct validity and goodness of fit, and Cronbach’s α was used for reliability. Results In total, 352 students (44.2%) completed the questionnaire. The EFA identified student-centered learning, problem-solving learning, self-directed learning, and visual technology (reliability, 0.77 to 0.89). CFA showed acceptable goodness of fit (chi-square P<0.01, comparative fit index=0.930 and Tucker-Lewis index=0.917, root mean square error of approximation=0.069, standardized root mean square residual=0.06). Conclusion The established tool—Student Ratings in Clinical Teaching (STRICT)—is a valid and reliable tool that demonstrates how students perceive clinical teaching efficacy. STRICT measures the frequency of teaching practices to mitigate the biases of acquiescence and social desirability. Clinical teachers may use the tool to adapt their teaching practices with more active learning activities and to utilize visual technology to facilitate clinical learning efficacy. Clinical educators may apply STRICT to assess how these teaching practices are implemented in current clinical settings.