Molecular characterization of X chromosome fragility in idiopathic mental retardation

Background: Fragile X syndrome [FXS] is the most common form of inherited mental retardation. Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients is relatively high. Cytogenetic diagnosis of FXS is unreliable since it is ineffective for the diagnosis of premutated males or females. Proper molecular diagnosis is a pre-requisite for providing proper counseling advice

Subjects and methods: Sixty-four males with idiopathic mental retardation, ranging in age from 4.2 to 19 years [10.92+/- 4.00] were clinically pre-selected, based on scoring protocol comprising eight features of the syndrome, before molecular testing. A rapid polymerase chain reactionbased screening was applied for detection of expanded FMR1 alleles. Samples that did not yield the normal band lengths were subjected to a second PCR screen. The secondary screen utilizes a chimeric primer demonstrating the presence or absence of an expanded allele

Results: Amplification of FMRI gene by PCR of tested patients revealed that 8 cases [12.5%] have full mutation and 6 cases [9.4%] have premutation. A wide range of Fra X-scoring ranging from 1 to 7 features was detected in examined cases. Significant clinical features included large prominent ears, hyperextensibility of joints and macroorchidism in post pubertal males

Conclusions: A simplified checklist of fragile X should be used for patients with idiopathic MR and those patients above score 3 should be tested for FXS. The diagnostic assay may be used as a screening method for fragile X syndrome being rapid and cost effective compared to other techniques. In addition, screening of all relatives of proven patients should be performed to detect clinically unidentified cases for provision of proper counseling and optimal management of detected cases

Primary plasmacytoma involving mediastinal lymph nodes: a diagnostic mimicry of primary mediastinal lymphoma

Plasmacytomas could involve any organ, and at times might pose a diagnostic challenge when the site of involvement is unusual, or if the presentation is similar to other diseases. Wedescribe a 48- year-old man presenting with worsening shortness of breath and chest discomfort with radiologic evidence of mediastinal enlargement, mimicking a lymphoma with mediastinal involvement. An excisional biopsy of a mediastinal lymph node showed a plasma-cell infiltrate strongly positive for CD138, with a flow-cytometry analysis showing a population of lambda-restricted neoplastic plasma cells. He failed to respond to 50 Gy involved-field radiotherapy, but achieved a partial response to combination chemotherapy. He underwent high-dose chemotherapy with melphalan [200 mg/m[2]] followed by lenalidomide maintenance, and is in complete remission 18 months postautografting. This case illustrates a unique and rare presentation of primary lymph-node plasmacytomas involving the mediastinum potentially mistaken as lymphoid malignancy. Clinicians should be aware of the plasma-cell origin of the mediastinal neoplastic process

Comparison of serum zinc between type 2 diabetic patients and non diabetic people: [short report]

Disturbances of zinc [Zn] homeostasis have been associated with several diseases including diabetes mellitus. The aim of the present study was to compare the serum level of zinc in diabetic type 2 patients with those of non-diabetic control subjects. In this cross-sectional study, 35 diabetic patients referred to the Rafsanjan Diabetes Clinic and 35 healthy non-diabetic controls were selected using simple random sampling method. Both groups aged >/= 30 and had a similar gender distribution. A pre-designed questionnaire was completed for each participant. A fasting blood sample was individually drawn for fasting blood sugar [FBS] and Zn measurement. The data was then analysed using student's t test. Results of this study demonstrated that the difference in mean serum level of zinc between the two groups was statistically significant, 10.58 +/- 2.27 micro/dl for patient group versus 16.62 +/- 5.04 micro g/dl for control group [p=0.001]. There were no marked differences in terms of age and gender distribitions except that for the FBS level. Our findings showed that the serum level of Zn in the diabetic patients is lower than control group. Further studies are warranted to determine whether zinc supplementation can be used as an adjunct in diabetes management

Internal evaluation of Social Medicine Department of Rafsanjan Medical School

Situation assessment during the implementation process will create favorable feedback that makes clear to what extent the implemented program has been successful in achieving the predetermined goals. Therefore, the internal evaluation of Social Medicine Department of Rafsanjan School of Medicine was aimed at understanding the strengths and weaknesses points in order to improve weaknesses and reinforce strengths. In this descriptive study, different parameters were evaluated including; relevant criteria for the head and middle manager of the group, technical facilities and equipments, library facilities and services, analysis of students' comments regarding educational curriculum i.e. theory, apprenticeship and internship cpourses, faculty members' structure and their curriculum vita [CV] and finally, the group colleagues' comments about the faculty members' teaching quality. Markers associated with each criterion were determined in a checklist form and compared using the Gorman table. Evaluation results showed that the mean scores for the aforementioned parameters were 4.89, 4.46, 5, 2.77, 4.79, 4.56, 4.15, 2.53 and 2.30 respectively. The overall rank for internal evaluation of the group, 3.83, was considered good based on the Gorman ranking criterion. According to the results, the group rank was strong and very strong for most of the parameters. However, the group rank was satisfactory and borderline for the parameters of library facilities and services and students' comments regarding educational curriculum in apprenticeship and internship cpourses. The findings of this study put a higher responsibility on the Social Medicine Department to have a complete revision of the educational curriculum in apprenticeship and internship courses for medical students and to seek to eliminate weaknesses and enhance strengths points and take the appropriate action to equip and support the library

[Anthropometric characteristics of Rafsanjan primary schoolchildren based on body mass index and waist circumference in 2008]

Background and Aims: Anthropometric indices are among common tools used in assessing nutritional status in children. This study was done to determine anthropometric indices of Rafsanjan schoolchildren by using Body Mass Index and Waist Circumference and height

Methods: In this cross-sectional study, 1275 primary schoolchildren were selected using two stage random sampling method. Demographic questionnaire was completed. Then weight, height and waist circumference [WC] were measured by standard scale and tape respectively. Overweight and underweight were defined based on BMI scores and were compared using CDC [Center for Disease Control and Prevention] chart. Stunting was detected using percentiles of stature for age. Abdominal obesity was defined based on WC percentile for age and gender presented by IDF [International Diabetes Federation]. Data were analyzed by using Chi Square and t-student tests

Results: According to our finding, about 13.3% of children were underweight and 16.1% of them were stunting, 11.5% were at risk of overweight and 9.4% were overweight. Girls were significantly more stunting than boys [17.7%, Vs. 13.6%, P= 0.04]. Abdominal obesity was seen among 6.4% of students and it was seen more in boys compared to girls [8.4% Vs. 5%, P=0.016]

Conclusion: Our findings showed that underweight, stunting and overweight are common health problems among schoolchildren of Rafsanjan

Genetic study of congenital limb anomalies among Egyptian children

This study has been conducted to reveal genetically-determined factors that underlie the development of congenital limb anoma1…m9ng a sample of Egyptian infants and children. These data might prove useful' in taking preventive measures and/or providing proper counseling to concerned families. The study comprised studying 140 [One hundred and forty] Egyptian children with congenital limb anomalies. They consisted of [98] males and [42] females ranging in age from 10 days to 18 years. All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination. In addition, specific radio-imaging studies and laboratory investigations were done for cases necessitating further diagnostic workup. The results of the study revealed that isolated limb anomalies were found in [55] patients representing [39.3%] of cases. The remaining eighty five [85] patients constituting [60.7%] of enrolled cases comprised two groups: those with limb defects as part of a well defined genetic syndrome [Syndromic limb defects] [76 patients-54.3%] and those with limb defects as part of a chromosomal aberration syndrome [9 patients-6.4%]. Genealogical data of the study revealed that parental consanguinity is found in [47.3%] of cases with isolated limb defects, in [72.3%] of cases with syndromic limb defects and in [44.4%] of cases with limb defects due to chromosomal abnormalities. Valid history of prenatal drug intake by the mother was found in [43.6%] of cases with isolated limb defects, in [25%] of syndromic limb defects and in none of the cases with chromosomal abnormalities. Detailed analysis of data of the study drew useful recommendations regarding many aspects like the possibility of prenatal diagnosis of most cases as well as the availability of many curative and/or palliative intervention measures for early detected and managed cases. Of prime importance, however, is the urgent need of alerting gynecologists and obstetricians taking care of pregnant women to the important role played by iatrogenic prescription of drugs during pregnancy in causation of many types of congenital limb anomalies. Cessation of this non-based evidence medical attitude is necessary and can result in a significant reduction in drug-induced congenital limb anomalies among newbornsmedical attitude is necessary and can result in a significant reduction in drug-induced congenital limb anomalies among newborns

[Evaluation of anthropometric features in adolescent girls of Rafsanjan, Iran - 2007]

Anthropometric measures are the most frequently tools for assessing both nutritional and public health status. These indexes help recognizing individuals who are at risk of obesity and underweight. Appropriate interventional approaches could then be achieved. The present study aims to evaluate nutritional status of adolescent girls [11-18 years] in Rafsanjan using anthropometric indexes. In this cross sectional study, 1221 adolescent girls were randomly selected using a multiphase sampling method. Study checklist was completed after receiving a written consent form, in a face-to-face interview. The weight, height and waist circumference [WC] were measured by standard scale tape accurately. BMI was calculated based on the weight, height and obesity as well as overweight was defined based on BMI scores using CDC chart. Abdominal obesity was also detected based on WC percentile for age. Data were analyzed using SPSS-12 software and Chi-square tests and Pearson correlation coefficient are used where appropriate. Mean age of respondents was 14.3 +/- 1.7 years, and 11.2% and 2.4% of subjects were overweight and obese, respectively. Our findings showed that 11.3% were malnourished. The proportion of respondents with overweight and obesity in the two groups of secondary and high school pupils were significantly different [P<0.05]. Respondents living in urban area were more frequently overweight than respondents had abdominal obesity. Results showed correlation between BMI and waist circumference [r=0.08, P<0.01]. Our findings showed that overweight, obesity and underweight are common health problems among secondary and high school pupils of Rafsanjan. Researchers suggest other risk factors including hypertension and metabolic syndrome are likely involved

Assessing nutritional status of students in Rafsanjan University of Medical Sciences using anthropometric indices [2007]

Nutritional assessment is an important method in public health for measuring health status of people in community. The aim of this study was to evaluate nutritional status of students of Rafsanjan University of Medical Sciences [RUMS] using anthropometric indices: Body Mass Index [BM1], Waist Circumference [WC] and Mid Upper Arm Circumference [MUAC]. This cross sectional study was done on 694 students of RUMS in 2007. Appropriate tools were used for measuring weight, height, waist circumference and mid upper arm circumference. Obesity and abdominal obesity were detected based on the scores of BMI and WC. Also malnutrition was defined according to the scores of MUAC. Data were analyzed using t test and Pearson correlation coefficient methods. Results showed that 10.7% [n=14] and 1.4% [n=10] of respondents were overweight and obese, respectively. Seven point eight percent of students [n=54] had abdominal obesity. There was a significant correlation between BMI and WC [r=0.81, p=0.01] Also 13% of the students [90] were underweight. Three point sixteen percent of girls [n=18] and 7.1% of boys [n=90] were malnourished based on MUAC measurement. There was a significant correlation between real BMI and estimated BMI by the MUAC [p=0.001, r=0.84]. There was also a correlation between BMI scores and MUAC [r=0.83, p=0.001]. Overweight, obesity and under weight due to malnutrition are important health problems among the students of RUMS. It seems that using MUAC can estimate BMI in adults

Epidemiology of animal bites in Rafsanjan, southeast of Islamic Republic of Iran, 2003-05

The incidence of animal bites in the Islamic Republic of Iran has been increasing in recent years. In a descriptive study of 1542 patients referred to a health centre in Rafsanjan city from 2003 to 2005, the incidence of animal bites in the area was estimated as 180, 195 and 241 per 100 000 in 2003, 2004 and 2005 respectively. Of the patients, 74% were bitten by dogs, 23% by cats and 3% by other animals [monkeys, rats, foxes, bats, donkeys, etc.]. The mean time delay from injury to initial management was 15.1 [SD 29.8] hours. Rabies vaccine was given to 85% of cases, rabies vaccine plus rabies immunoglobulin to 15% and tetanus toxoid vaccine to 66%

[Effects of Ramadan fasting on diabetes mellitus: a review article]

In islam, there are several objectives for fasting which include spiritual, psychological, social and physiological health promotion. However fasting is prohibited for women with special physiological status, patients, children, and elderly people. This study has reviewed the effects of fasting on metabolic control of diabetic patients, published in literature. In this study pubmed, sciruse, findarticles, irandoc, Sir base and Google search engines have been searched for publication on the related subject. We used key words of Ramadan, Moslem, metabolic control and diabetes mellitus to search these database. The outcome of our search showed great diversity among the results reported by different authors. Some reported that Fasting reduces some of the biochemical index and increased HDL cholestol. Other surveys concluded that fasting causes hypoglycaemia. Based on the results of many studies, Fasting did not change FBS, Insulin, C-peptide, TG, HbA1C, fructosamine, but it could lead to Hypoglycemia and reduction of body weight. According to many studies, fasting is prohibited for IDDM patients and it is needed for NIDDM patients to be evaluated before fasting. Patients must be aware of the effect of diet, drugs regimen and physical activity. We also suggest both studies in national and international scales

[Blood pressure status and its association with obesity and abdominal obesity in students of Rafsanjan university of medical sciences in 2007]

Obesity is associated with cardiovascular risk factors including hypertension, type 2 diabetes mellitus and hyperlipidaemia. The present study aimed to the evaluate status of blood pressure and its association with obesity and abdominal obesity in students of Rafsanjan University of Medical Sciences [RUMS]. In this cross-sectional study 694 respondents were recuited using census method. Hypertension and obesity were detected using JNC7 and WHO classification, respectively. Chi[2] test and Pearson coefficient were applied where appropriate. Results of this study demonstrated that 27.4% and 28% respondents had systolic [120>mmHg] and diastolic [>80mmHg] high blood pressure, respectively. Forty point five of overweight students and 60% of obese students had high blood pressure. These differences were statistically significant [p<0.05]. Additional high diastolic blood pressure was found in 36.5% and 60% of overweight and obese students, respectively [p<0.05]. According to BMI scores, 10.7% and 1.4% of students were overweight and obese. 8.8% of girls and 3.17% of boys had abdominal obesity. There was a significant correlation between abdominal obesity and systolic [r=0.28, [=0.01] and diastolic [r=0.18, p=0.01] blood pressure. This study showed that hypertension, obesity and abdominal obesity are health problems in students. Interventional approaches for changing in life style and university nutritional programs are needed

Relationship between frequency of child and growth in the second year

The importance of breast-feeding is well-known over the first two-year of the life. Although, the complementary feeding is the main source of energy during the above-mentioned period and breast-feeding itself cannot supply the child nutritional requirements, as a consequence, complementary feeding provides seventy percent of the daily child requirements. It seems that a decrease in the frequency of complementary feeding over the first 2-year of the life would lead to an increase in the frequency of breast-feeding. We conducted a cross-sectional and descriptive study which was performed via a simple randomized sampling on 404 first to second year infant referred to health centers of Rafsanjan city. A detailed-questionnaire and physical exam were performed. X2 test and Fisher's exact test were used. Our study showed a significant correlation between the frequency of daily breast-feeding and height in the second year of the life [p<0.009]. However, there was no significant correlation between the frequency of daily breast-feeding and weight in the second year of the life. Our study showed that complementary feeding did not fulfill the sufficient calories which itself leads to child shortness in height. It was observed that insufficient complementary feeding would lead to an increased frequency of breast-feeding

[Using body mass index [BMI] to assess nutritional status in Afghan immigrant children in Shahriyar region]

To measure Body Mass Index [BMI] in Afghan immigrant children in 2005. In this survey we selected 606 Afghan children aged 6-14 years and measured their weights and heights. After calculating body mass index [BMI], we categorized the subjects as underweight, normal, or obese. This study showed that 97 cases [16%] had low weight, 429 [81.2%] fell within the normal range and 17 [2.8%] were over-weight. Low weight was more common in girls than in boys [15.2% vs. 16.9%] but the difference was not statistically significant. Also, the prevalence of low weight was greater in children born in Iran [17.3%] than in those born in Afghanistan [15.2%]. Children with birth ranks of >/= 3 were more likely to have low weight in comparison to first-and second-born subjects [17% vs. 15.3%], but the difference was not statistically significant. In light of the high prevalence of malnutrition in Afghan immigrant children, interventional and educational programs are needed to improve health and nutrition status in Afghan immigrants

Quantitative analysis of iron supplementation and some of its factors affecting infants [6-24 months age] at Rafsanjan health center in the year 2001

Iron deficiency and anemia are among the most problems encountered the general hygiene system in the world because infants under 2 years of age are at risk of having iron deficiency. Therefore it is necessary to supplement the infant with iron as an important prophylactic method for anemia. The supplementation of infant with iron is routinely done in health centers of iran. Although, iron drop supplement is available for children, some mothers don't provide this necessary nutritional element for their infants. This study was conducted to evaluate the iron supplemental dose, and compliance of mothers in giving iron drop to their infants. In addition, we looked for possible demographic characters of mothers and their reasons that prevent their infants from accessing the iron drop. This descriptive study was performed on 1200 infants [6-24 months who were referred to health care centers of Rafsanjan city in 2001. Systematic randomized sampling method was used for the study. A questionnaire containing demographic characters of mothers and infants, daily intake of iron drop, as well as lack of iron drop intake along with mother's reasons such as blackening of teeth, black stool, lack of Iron drop, unfavorable taste, mothers forgetfullness, lack of need for iron in infants, and lack of recommendation by physicians. The data were gathered and analyzed by using SPSS 12 soft ware, T and X[2] tests. -Among 1200 infants investigated 61% were taking the iron drop daily [95% Cl, 58-64]. The most common reason for not taking the supplement daily was blackening of teeth 25.1% [95% CI, 21-29] and the least frequent one was black stool 1.5% [95% CI, 0-3]. The relationship between avoding daily intake of iron drop and infant age, growth level, level of mother's education, mother's job and here age were significant but it was not significant for sex. Considering the importance of infant daily intake of the iron drop and lack of logical reasons of mothers to give the supplement to their infants, a meticulous and intensive public campaign is needed to augment awareness of the mother to provide the iron for their infant either as a supplement or in the infant's food. Nevertheless, infants who don't have enogh of this necessary element in their diet should be examined for iron deficiency and subsequent treatment

Gene analysis and carrier detection of Duchenne muscle dystrophy in Egyptian families

Duchenne and Becker muscular dystrophy [D/BMD] are X-linked recessive disorders resulting from mutations in the DMD gene. Since there is no cure or effective treatment for progressive muscular dystrophy, prevention of the disease is important and strongly depends on carrier status in-formation. Two-thirds of DMD/BMD cases are familial, thus female relatives are candidates for carrier-risk assessment. Segregation analysis of polymorphic short tandem [CA]n repeats [STR-[CA]n] was used to establish and compare the haplotypes of DMD patients with those of their at-risk relatives in order to determine the carrier status. However, 59 D/BMD index families and 35 of their at-risk female relatives were analyzed using the ion-pair reversed phase high performance liquid chromatography [IP-RP-HPLC] method. Comparison between the results of CPK of the carriers and linkage analysis revealed that values higher than the normal level were compatible in 100% of the cases with the carrier status. On the other hand, normal values do not distinguish between the healthy and carrier populations. In conclusion, the unlabeled IP-RP-HPLC-STR assay represents an excellent molecular tool for carrier-status identification and consequently the genetic counseling for the early prevention of such diseases

[Knowledge, attitude and practice of health workers on family planning in Rafsanjan-1383]

The community involvement is among the key issues in the success of family planning programs and this is closely related to their level of knowledge and awareness. It is therefore, very important to assess the level of knowledge, attitude and practice of the different groups of people especially those who have a key role, such as Health Workers, in the family planning programs. A questionnaire including 32 items was designed to assess the level of knowledge attitude and practice of the Health Workers in Rafsanjan province [n=170] regarding family planning. Trained interviewers interviewed the relevant population and the results were analyzed by SPSS. The results indicate that the knowledge and attitude of the Health Workers on family planning has been appropriate Correct responses were given to most of questions on knowledge and attitude [70%]. Health Workers' practice was also appropriate [70%] comparing the results of the study with those of a decade ago on the same population was indicated a big improvement. In the end, regarding the key role of the population studied on family planning in rural communities, holding in-service training programs to promote knowledge, attitude and practice of the Health Workers is suggested

Mast cell-mediated angiogenesis in chronic venous leg ulcers

The male patients, aged 30-55 years, of chronic venous leg ulcers and 10 healthy controls of the same age were studied for angiogenesis and mast cell changes. The surface area [SA] of the newly formed thin walled capillary vessels were counted, using counting graticule, in relation to skin SA. All patients exhibited angiogenesis. The mast cells were greatly increased [57954/mm3] and this increase was highly significant [P <0.01], and their activities were marked