A novel missense mutation (c.1006C>T) of SPG20 gene associated with Troyer syndrome

The number of gene mutations involved in the hereditary spastic paraplegias is rapidly growing due to the expansion of the frontiers of genomic research by next-generation DNA sequencing platforms. Nevertheless, a comprehensive genetic diagnosis method remains yet unavailable for these diseases. In the current research, an 8-year-old boy with short stature and developmental delay impairment, from a nonconsanguineous family, was referred to our genetic lab. Firstly, based on the physician recommendation, the patient was evaluated by tandem mass spectrometry (MS/MS) for the quantitative examination of amino acids, and then the patient was genetically investigated by karyotype analysis and whole-exome sequencing (WES) technique. Subsequently, targeted Sanger sequencing was applied to confirm the presence of the candidate variant in all the members of the family and screening the other patients for Troyer syndrome. Analysis of inherited metabolic disorders by tandem MS/MS showed the state of all the family members as normal and also karyotyping indicated no chromosomal aberration in the patient. Further investigation by WES technique indicated a homozygous missense variant in the SPG20 gene, c.1006C[T. Targeted sequencing result of the mutation confirmed homozygote state for the affected case and a heterozygote genotype for his parents. The mutation was classified as pathogenic. Detection of novel variants especially pathogenic variant in the SPG20 gene was associated with Troyer syndrome, which encodes a multifunctional protein termed Spartin, assist in improving genotype–phenotype correlation of genetic variants and may facilitate initial diagnosis of Troyer syndrome

[Assessment of visibility and extension rate of incisive branch of the inferior alveolar nerve in cone beam computed tomography imagings]

Background and Objective: Many surgeries are performed on anterior region of mandible. Incisive branch of the inferior alveolar nerve is located in the anterior region of mandible. The identification of various form of nerve is important for diagnosis and treatment plan. This study was carried out to the assessment of visibility and extension rate of incisive branch of the inferior alveolar nerve in cone beam computed tomography [CBCT] imagings

Methods: This descriptive - analytic study was performed on 105 CBCT images. The presences or absence of incisive branch of the inferior alveolar nerve and assessment of visibility and extension rate of mandibular incisive canal were studied

Results: In 79% extension of the incisive branch of the inferior alveolar nerve were observed. 18.07% of extensions were observed in one-side and 78.31% were bilateral. Extension of the incisive branch of the inferior alveolar nerve was observed to central, lateral and canine tooth in 59%, 26.5% and 14.5% respectively. There was no significant relation beween gender and age of subjects with extension of the incisive branch of the inferior alveolar nerve

Conclusion: Regarding the high visibility of the incisive nerve branches in the lower dental CBCT images this method can be used to evaluate the anterior region of mandible

Radiation exposure of the surgeons in sentinel lymph node biopsy

Sentinel node biopsy [SLNB] is the standard of care for breast cancer treatment and it is getting wide acceptance in Iran. The radiation safety of the procedure has been investigated under controlled conditions, but the standard dose of radiotracer and techniques are not always observed in the community setting. The aim of this study was to assess the magnitude of the absorbed doses of radiation to the hands of operating surgeons. Twenty consecutive SLNB procedures were studied. Radiation dose to the hands of the surgeons was measured by placing lithium fluoride thermoluminescent dosimeters [TLDs] in the surgeons' glove. The radiation dose to the abdomen and thyroid area was measured by placing TLDs at these areas. The injected dose of radiotracer, the time interval to the surgery and the duration of the surgery were recorded. The injected dose of radiotracer ranged from 0.1 to 5 mCi. The highest absorbed dose was recorded by TLD, placed on the non-dominant hand third finger [189.1 microSv]. Mean recorded doses were higher for non-dominant hand second finger [53.49 +/- 24.60 microSv]. The measured absorbed doses for the abdominal and thyroid area were lower than those for the fingers. This study has confirmed the procedure safety, even with high dose of radiotracer. Nevertheless, it is advisable to use the lowest dose of the radiotracer to avoid the waste of resources

[Comparative efficacy of 2% hydroquinone and melfade in treatment of melasma]

Melasma is an acquired hypermelanosis disease and can cause superficial problems in women if left untreated. The objective of this study was to compare the efficacy of 2% hydroquinone and Melfade in the treatment of Melasma. This is a randomized clinical trial study conducted at Kurdistan University of Medical Sciences in 2008. Sixty two women with Melasma disease were recruited and randomly assigned to two groups. Two percent hydroquinone was prescribed for the first group [n=31] and Melfade for the second group. After 12 weeks of daily drug consumption by the patients, they were examined by a dermatologist for assessment of recovery. The collected data was analyzed by the SPSS software. Response to treatment with hydroquinone and Melfadewas the same and no significant differences were found between the two groups. [P>0.05] Results of this study demonstrated that topical Melfade is as effective as 2% hydrquinone in treatment of Melasma, Therefore it can be considered as an alternative drug in the treatment of Melasma

Cyclosporine therapy for autoimmune hepatitis in children

The current immunosuppressive treatment of patients with autoimmune hepatitis [AIH] consists of prednisolone and azathioprine. Higli doses of prednisolone used for disease remission are not universally effective and have serious adverse effects. Some authors have provided evidence of AIH therapy in children and adults with cyclosporine [Neoral] should corticosteroid therapy become ineffective. Preliminary results using cyclosporine in a small group of patients have shown that this drug appears to be a good substitute for corticosteroids. We performed this study to assess the efficacy and safety of cyclosporine in induction of remission in children with AIH. This was a case series, interventional clinical trial that involved children with AIH. twelve children with a median age of 9 years, 3 months who were diagnosed according to international criteria as having definite AIH were recruited. Cyclosporine alone was administered at a dosage of 3.5-5 mg/kg in 3 daily doses for 5 months, followed by low dose prednisolone [0.3 mg/kg/d] for one month, then followed by combined low doses of prednisolone and azathioprine [1.5 mg/kg/d in two doses]. Patients discontinued cyclosporine after seven months. Biochemical remission of the disease was established by assessment of serum transaminase activity levels. Growth parameters that included Z-scores for height and weight, and adverse effects of the treatment were recorded, Of the 10 remaining patients, 7 had normalized alanine aminotransferase [ALT] activity levels by 4 months and all patients had normalized ALT levels by 9 months of treatment. Adverse effects of cyclosporine were mild and disappeared during weaning off the medication. Cyclosporine induced biochemical remission of the hepatic inflammatory/necrotic process in children with AIH. There were few, well-tolerated adverse effects. Longer follow-up of patients is necessary to establish possible long-term toxicity of cyclosporine

Measuring the economic attitude of hospital decision makers in Teaching, Private and hospitals affiliated with Social Insurance Organization in Tehran

Economic efficiency in any organization is based on economic attitude of the decision maker's board. Hospitals are important organizations in terms of health economic and activities related to decision making in an economic attitudes. Regarding the efficiency of Iranian hospitals and their wasteful performance, the present study intended to describe and analyze the economic attitude among decision makers in hospital boards. A cross-sectional approach was taken to the study of efficiency among hospitals. Study has focused on the board of decision maker's mentality about economic concepts particularly those relevant to the health and hospital economics. Teaching hospitals affiliated in Tehran, Iran and Shahid Beheshti Medical Science Universities, and hospitals affiliated with Social Insurance Organization and private hospitals in Tehran were determined as the sample of this study. Executive principals and managers in hospitals are together within the head nurses, accounting and administration officer were considered as members of decision makers board in hospitals. Total of 55 people interviewed as study population. Collected data was processed through SPSS software. Attitude spectrum among decision makers in hospitals board in the following dimensions were: Payment methods: Diagnosis Related Groups [DRG], Fee for Service [FFS], contract, salary, and per case. Financing methods included: DRG, Population Based Budget, FFE, Per capita, fixed [ordinary] and budget. Cost analysis methods composed: cost- effectiveness, cost- utility, cost- efficiency, and cost- profit. Budgeting methods were: Performance Based Budgeting, Plan Based Budgeting, Population Based Budgeting, zero Based Budgeting, and Historical/ Intermental Budgeting. Insurance system Performances included: Elimination of funding relationship between patient, Examination the expects of insured people from services, Supervision on Quality of services, Accreditation of service provider centers, determination of TAREFE and per capita, determination of medical guidelines. Per Capita determining Factors were: Cost accounting price, Inflammation, health price index, Demand on health service, Pattern of consumption, Out of pocket payment, Ability to pay. Assessing managers' attitude suggest a new prospective in crucial areas of hospital performance. These attitudes would be scientific weather the domain of knowledge will be expanded, so the development of relevant knowledge in hospital management area to make executive in a new patterns to the managers' attitudes

[Decrease in motivation of nursing students: a qualitative study]

Introduction: Motivation has been known as a most important factor in directing people for doing activities. Lack or low of motivation affect all domains of human functions and caused negative effects. The aim of this study was identifying perception of nursing students from decrease in theirs motivation to nursing

Methods: This study done with qualitative approach and using thematic analysis method. Twelve nursing students from the Fasa University of Medical Sciences were selected through purposive sampling and interviewed in three focus group interview. After data collection, all interviews were transcribed and reviewed and themes extracted. Then a list of themes prepared and similarity in meaning and concept were reviewed and based on centralization arranged in a sub-category. Then with reviewing again relevant sub-categories arranged in a category

Results: Using analysis of transcribes a significant number of preliminary themes and 6 main themes that each having few other sub-themes were extracted. The main themes included Socio-cultural, educational, managerial, research, communicational and contextual

Conclusion: The results of this study revealed that communication problems with students are the most important factor in lack or low motivation toward nursing. It is recommended that nursing instructors and managers considered above items for promoting motivation of students toward nursing

[Students perceptions of effective teaching in nursing education: a qualitative study]

Various definitions of teaching indicate the effort of training and education scientists for knowing teaching. Achieving to ideal and effective teaching involves connection between goals, teaching methods and students' learning. Effective teaching is critical for medical sciences student learning, especially in nursing students. The aim of this study was identifying perception of nursing students from effective teaching in nursing education. This study done with qualitative approach and using thematic analysis method. Eleven nursing students from the Fasa University of Medical Sciences were selected through purposive sampling and interviewed with focus group interview. After data collection, all interviews were transcribed and reviewed and themes extracted. Then a list of themes prepared and similarity in meaning and concept were reviewed and based on centralization arranged in a sub-category. Then with reviewing again relevant sub-categories arranged in a category. Using analysis of transcribes a significant number of preliminary themes and 8 main themes that each having few other sub-themes were extracted. The main themes included readiness, dynamically, valuing, individual characteristics of teacher, organization, evaluation, applicable and resources. The results of this study revealed that individual characteristics of teacher and communication with students are more significant factors in motivation and interest to learning and effective teaching. It is recommended that nursing instructors considered above items for curriculum planning in order to effectiveness of teaching and better learning

[ effects of video education on comfort and tolerability of patients undergoing coronary angiography]

Coronary angiography is a definite diagnostic evaluation for coronary artery disease and valvular heart disease. It is necessary to provide information to such patients in order to maximize their comfort and tolerability to the invasive procedure. The study aimed at assessing the effect of patients' education by video on comfort and tolerability of patients undergoing coronary angiography. Using quasi- experimental method with a pretest-posttest design, 128 patients with coronary artery diseases randomly assigned to two groups of control and experiment. The sample hadn't any experience of the procedure before. Control group received routine oral education by nurses and experimental group received an informative video on coronary angiography procedure as well as pre and post angiography interventions. Data were gathered through a 10-point rating visual analog scale [VAS] for comfort level and a 4-point rating scale to measure tolerability. No significant difference was found between the two groups, concerning demographic variables. It was revealed that the comfort level [P<0.001] and tolerability of the patient [P<0.05] in experimental group was higher than control group two, four and six hours after angiography [P<0.05]. The study indicated providing information on angiography through video could enhance patients' comfort and tolerability to the invasive procedure. It could result in shortened stay at hospital and increased satisfaction of patients

Triple-A syndrome [Allgrove syndrome] in Iranian children: report of 4 cases

Allgrove syndrome also known as triple-A syndrome is an autosomal recessive disorder characterized by alacremia, achalasia and ACTH-resistant adrenal insufficiency. Although this syndrome is rare, herein we report four cases with different clinical manifestations. They were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. The diagnosis of triple-A syndrome was confirmed after careful evaluations for vomiting

Assessment of motor units recruitment at the knee extensor muscles

Biomechanical conditions of limbs can affect on motor unit recruitment [MUR] markedly. Surface Electromyography [SEMG] is an approach for evaluation of muscle activities and onset time during different fimctions. The purpose of this study is to use SEMG for detection of central motor control in different functions of knee extensor muscles. Ten healthy subjects contributed in this study. They were done five repetitions of knee flexion/extension in open and close chain separately during recording of SEMG simultaneously. Integrated EMG [iEMG] of three middle repeated cycles were detected according to chain [open- close] and kind of contraction [concentric- eccentric].then the Average of three slope of iEMG compared to each other. There were not significant differences in MUR of three extensor muscles for concentric and eccentric contractions in open chain but vastus medialis and lateralis muscles showed significant changes in close chain [P<0.05]. Result showed that there were significant differences of MUR for two kind of muscle contractions between open and close chains [P<0.05]. Recruitment of motor units has not shown difference in open chain between concentric and eccentric contractions. This process indicates representative similarity of control pattern in two kind of contraction in open chain. Concentric contraction at close chain cycle has more MUR in comparison with eccentric contraction. It is equal to more interference of contractible compartment in concentric to eccentric contraction. This happens due to the nature of two kind of contraction particularly in close chain cycle. Comparison between two chains indicated that more motor units contribute in close chain [concentric and eccentric]. It means that motor unit recruitment increased due to effect of increase of load in close chain

Evaluation the course of [crisis management] for managers and staff members of unexpected disasters centers in Tehran

Education is the inseparable component of preparation in crisis and on the other hand, education evaluation is the inseparable component of education process for improving quantitatively and qualitatively. Therefore, the aim of this study is to evaluate the course of [crisis management] for both managers and staff members of unexpected disaster center. About 93 participants were selected randomly in this study. The data was collected by using of a questionnaire in three parts as [attitude towards crisis management], view assessment on the course implementation and finally [collecting suggestions for the course review]. Some participated managers had a positive view about crisis management. They considered it as a scientific-applied knowledge; however over half of them felt that it was not applicable in the country. About 80% of participants were interested in taking part in the supplementary courses and found it useful for their duties in crisis. The results have confirmed that participated managers had a positive viewpoint about the course. Also, they had this tendency to involve in the next planned courses regularly in both theoretical and workshop style. According to their beliefs, these workshops can improve the managers' decision making in crisis

[Evaluate the view of students of 10th overall maneuver of earthquake and safety in the schools]

Background: maneuver is the most useful strategy to decrease the toll and mortality in a disaster and also to raise the people's awareness in the society. Performing maneuver in schools is so important hence we have a young population in the country. Red Crescent society, maneuver founder, aims to evaluate participants' views and suggestions with the purpose of better planning and performing in future

Methods: in this research, there were selected about 1500 ones by using of both nonprobability sampling and questionnaire for data collection

Findings: according to the findings, about 60% of students were satisfied with the function of relief workers of Red Crescent and Fire Department; about 50% were fully satisfied with the provided programs; about 50% of participants declared that they never used of the relief trainings in previous maneuvers

Conclusion: the students were satisfied with the maneuver players function and programs. However, in order to better implementation there should be more emphasis on functional programs and safety training points

Effect endotracheal suction on superoxide dismutase and catalase activity in CABG patients

Executing some nursing and medicine activities, may increase the production of Free Radicals of Electrons, which results in a kind of oxidative stresses when Anti-oxidants fail to defend the body So the purpose of this study is to determine the effect of suction with a tube located inside the Trachea on the amount of Oxidative Stress Indexes on C.A.B.G patients. This is a clinical trial study. A number of 35 patients were under CABG and they had a endothrachial tube and were under Mechanical Ventilation. In this method, first blood sampling is performed in 3 times [before and right after the suction and 15 minutes after the suction]. Then, the amount of Catalyse Anti- Oxidants and Super Oxide Dismutase are measured. The results showed that means of Super Oxide Dismutase in periods of before and right after the suction and 15 minutes after the suction had a meaningful differences and a raising trend. [P<0.05]. However in the case of Catalyse in the same mentioned periods there was no significant. Suction is a radical bringing process, which apposes some changes on the activities of Anti-oxidants. When Anti- oxidants fail to defend [the body], oxidative stress emerges. Therefore, necessary amendment programs needed to amend the above-mentioned process according the scientific researches

[Comparison of growth parameters of infants of Ramadan fasted and non-fasted mothers]

The many advantages of exclusively breast feeding infants are documented: breast-feeding enhances the growth and development of breast fed infants. The impact of Ramadan fasting by breast-feeding mothers on the growth parameters of exclusively breast-fed infants is still not clear. The aim of this study was to evaluate the impact of maternal fasting during Ramadan on the growth parameters of their exclusively breast-fed infants. This cohort study was performed throughout Ramadan and for five months after, on healthy, exclusive breast-fed infants [n=116], aged between 15 days to 6 months, assigned into two groups based on their mothers fasting: Control group [n=80] and fasting group [infants with fasting mothers: n=36]. All infants underwent periodic physical examinations twice in Ramadan, 3 times in the second month and then twice monthly in next 4 months. The infant's growth status was evaluated by calculating each growth parameters [weight, height, head circumference] as a percentage of the median value for age, based on appropriate growth charts. The mean age of infants in the case group was 3.43 +/- 1.38 and in the control group was 2.31 +/- 1 45 months age being significantly different between the two groups [P<0.05]. Fifty-four [46.6%] were boys and this proportion was the same in both groups [P>0.05]. According to the repeated measures ANOVA, all growth parameters increased during the study period [P< 0.05] but the rate of increasing was the same for both groups [P>0.05]. Ramadan fasting by breastfeeding mothers did not adversely affect on the growth parameters of exclusively breast-fed infants

[Endoscopic sclerotherapy on variceal bleeding in children]

Since variceal bleeding due to portal hypertension is associated with a high mortality rate, effective treatment leads to improved survival. Endoscopic sclerotherapy is an effective treatment for bleeding esophageal varices, but it is associated with significant complications. To determine the efficacy and safety of endoscopic sclerotherapy, we evaluated the patients with variceal bleeding who underwent sclerotherapy in our center. This study was a case-series study in which, we evaluated 79 patients who referred for esophageal variceal bleeding and underwent sclerotherapy and completed the questionnaire. From79 patients, 52 [65.8%] were male, and 27 [34.2%] were female. The rate of success [arrest of acute bleeding by endoscopic sclerotherapy] was 100%, but it was 55.7%for long-terms clerotherapy; 53.3%of patients with liver disease, and 64.7%of patients with extraheaptic portal hypertension had suitable response; 58.3%of patients with Child A, 83.3%of those with Child B and 14.3%of Child C cirrhotic patients demonstrated appropriate response. In fundal varices, 15.2% were improved, 21.5% were accelerated and 43.3% showed no significant changes. During treatment, 31.6%had one of the complications of sclerotherapy. The rates of rebleeding and mortality were 54.4% and 8.9%, respectively. Although sclerotherapy reduced the mortality attributable to acute variceal bleeding, but the long-term effectiveness of sclerotherapy was not very high

[Fuchs heterochromic iridocyclitis and pellucid corneal marginal degeneration: a co-incidence or a developmental defect?]

To report a patient with Fuchs' heterochromic iridocyclitis and pellucid corneal marginal degeneration. A 37-year-old woman referred to Poostchi Eye Clinic, Shiraz, Iran with complaint of low vision in both eyes especially in the left side since many years ago. On ophthalmologic examination, best-corrected visual acuity was 20/50 in right eye with refraction of -6.50-7.5@90 and 20/80 in left eye with refraction of -8.50-11.00x90. Slitlamp examination revealed inferior thinning of cornea in both eyes and diffuse keratic precipitates on corneal endothelium, 1+ cell and flare in the anterior chamber and posterior subcapsular cataract in left eye. There was a moderate iris hetererchromia between the eyes which beside other findings was suggestive of Fuchs' heterochromic iridocyclitis. Corneal topography was in favor of pellucid marginal degeneration. To our knowledge this is the first case of pellucid marginal degeneration associated with Fuchs' heterochromic iridocyclitis in the literature. This may be a co-incidence or might have occurred due to a defect in embryonic ocular development

[ effect of maternal Ramadan fasting on growth parameters of their breast-fed infants]

Breast feeding is the best feeding pattern for infants. As a large number of mothers are fasting during the Ramadan, the aim of this study was to determine the impact of maternal Ramadan fasting on growth parameters of the infants whom fed only with maternal breast milk. This cohort study was performed from the beginning of Ramadan till the end of the following month in 1385. A total of 60 infants who fed only with maternal breast milk aged ranging from 15 days to 6 months were selected. Based on their mother fasting, they were divided in two groups of case [27 infants who their mothers were fasting] and control [33 infants who their mothers were not fasting]. The growth statue of the infants were evaluated using parameters weight, height, head circumference, during Ramadan and the following month. Using descriptive and analytical statistics, analysis of variance and independent t-tests data were analyzed. The mean age and sex of the infants was the same [P>0.05]. Weight, height and head circumference of the infants increased by 21, 7 and 6 percent, respectively during the study [P<0.05]. The repeated analysis variance showed that there was no significant difference in increasing of growth parameters between fasting and non-fasting mothers [P>0.05]. Ramadan fasting of mothers with exclusively breast-feeding infants did not adversely affect on the growth parameters of their infants

prevalence of obligatory anaerobic bacteria in oral cavity infections

Many infections of the oral cavity and adjacent structures involve anaerobic bacteria. Most infections involve multiple anaerobes and in many instances facultative organisms. Present study was conducted regarding to clinical aspects and complications of anaerobic bacterial infections in oral cavity. 72 Specimens were taken from oral cavity infections. Routine culture techniques and strict anaerobic techniques were used for isolation and identification of aerobic, facultative and obligatory anaerobic bacteria respectively. Cultures of all specimens were positive. Mono- bacterial and poly bacterial infections were repored in 1/3 and 2/3 of specimens, respectively. More than 65% of isolated organisms, were obligatory anaerobic belonging to the Peptostreptococcus, Prevotella, Fusobacterium Porphyromonas and Bacteriodes as well as facultative and aerobic species include Streptococcus, Staphylococcus interobacteriacea and Actinomes Israelii are also obtained. Many infections of the oral cavity and adjacent structures involve obligatory anaerobic bacteria. Regarding to results of present study, under the anaerobic atmospheric system, obligatory anaerobic bacteria were isolated and identified from clinical specimens of oral cavity infections, especially abscesses

[Comparison of the effect of different chewing gums and one mouth wash on the amount and PH of saliva in healthy individuals]

Saliva serves an important role in oral homeostasis. Protection against viruses, bacteria and fungus and dental remineralization are some roles of saliva. Xerostomia is a common complaint, especially among elderly woman and is usually the result of the salivary gland dysfunction. It may be beneficial to stimulate the salivary flow by sugar free chewing gums or substituting saliva by oral rinse, in patients with impaired salivary function. The purpose of this study was to evaluate the effect of stimulating materials such as, chewing gums and one oral rinse on the amount and pH of saliva. In this experimental study, 60 healthy individuals were randomly divided into four groups, each composed of 15. Before study, the mean amount and PH of the whole saliva were evaluated in 2 minutes. In group 1, 2 and 3 Orbit, Relax and Biotene chewing gums were used for 5 minutes, respectively. In the forth group, Biotene mouth wash was used for 30 seconds according to the manufacture's instruction. The mean amount of saliva in 2 minutes and mean of saliva PH were determined immediately and 45 minutes after use of the materials. Covarince analysis and the Least Significant Difference test were used for data comparison among groups and T-test was used for intra groups analysis. In all groups the mean amount of saliva increased immediately after using the materials, but after 45 minutes, though significantly higher than the initial one, the mean amount decreased. The mean of PH increased immediately after chewing the gums, but after 45 minutes use of the gums, only for Relax and Biotene gums, the mean of saliva PH was significantly higher than the initial record. Biotene in the form of mouthwash did not show any effect on PH of the saliva. Xylitol with mechanical factors such as chewing increases the amount of saliva and improves PH of the oral cavity. Relax and Biotene chewing gums, having no glucoses and contain only xylitol, due to the increase in amount of saliva and improvement of PH, should be considered as preferred chewing gums