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author:("soltnf, Akbar")
1.  A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutations 
Background
Pseudohypoparathyroidism(PHP) is a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia resulting from PTH resistance. Different forms of PHP have been reported based on biochemical and clinical manifestation and genetic findings. Most of these forms are caused by defects in GNAS, an imprinted gene locus with multiple subunits. We reported a 12- year- old girl with unusual clinical manifestations of Pseudopseudohypoparathyroidism(PPHP).
Methods
After clinical and biochemical evaluations, the patients’ genomic DNA was isolated from peripheral blood leukocytes using salting out method. The whole coding sequences of GNAS gene including 13 exons were amplified by PCR. Quantitative PCR reactions were performed too.
Findings
We described a 12- year- old girl with Albright Hereditory osteodystrophy (AHO) phenotype, poor school performance, some abnormal movements, TSH resistance with normal serum calcium and phosphorus levels and normal Gsα bioactivity with no mutation in GNAS exons. Unusual neuropsychiatric findings in this patient were compatible with Asperger syndrome.
Conclusions
According to our findings this patient could not be categorized in any of PHP subgroups. Identifying of such individuals may be useful to discover different genetic patterns in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. It is important to identify patients in whom PHP is caused by novel GNAS mutations, as careful investigations of these findings will likely further our knowledge of this complex and this unique disorder. In addition this case presented with unusual neuropsychiatric findings which has not been reported up to now.
doi:10.1186/2251-6581-13-56
PMCID: PMC4067066  PMID: 24959527
Pseudohypoparathyroidism; GNAS mutation; Albright Hereditory osteodystrophy; Pseudopseudohypoparathyroidism
3.  Estimating the avoidable burden of certain modifiable risk factors in osteoporotic hip fracture using Generalized Impact Fraction (GIF) model in Iran 
Backgrounds
The number of hip fractures, the most common complication of osteoporosis, has increased rapidly over the past decades. The goal of this study is to estimate the avoidable burden of certain modifiable risk factor of the condition using the Generalized Impact Fraction (GIF) model, which has been suggested and used by epidemiologists to overcome the drawbacks associated with the use of Attributable Fraction index. In addition to preventing a risk factor or the avoidable fraction of burden, this index can also calculate the change in the burden, when a risk factor is altered.
Methods
International databases were searched through PubMed, CINAHLD, Embase using OVID and Google scholar. National resources were searched through IranDoc, IranMedex, SID and Journal sites. Other resources include abstract books and articles sent to the IOF congress. The following search strategy was used: (“Osteoporotic fracture” OR “Fragility Hip fracture” OR “Calcium” OR “vitamin D” OR “BMI” OR “lean body weight” OR “Physical activity” OR “exercise” OR “Smoke”) AND (“prevalence” OR “incidence” OR “relative risk”) and limited to “humans.”
Results
With regards to different scenarios already explained in modifying the studied risk factors, the greatest impact in reducing the prevalence of risk factors on osteoporotic hip fractures, was seen in low serum vitamin D levels, low physical activity and low intake of calcium and vitamin D, respectively. According to the fact that interventions for low serum vitamin D and low intake of calcium and vitamin D, are related to each other, it can be concluded that implementing interventions to change these two risk factors, in the easy, moderate and difficult scenarios, would result in approximately a 5%, 11% and 17% decrease in the burden of osteoporotic hip fractures, respectively. The addition of interventions addressing low physical activity in the easy, moderate and difficult scenarios, an 8%, 21% and 35% reduction in the burden of osteoporotic hip fractures would be reported, respectively.
Conclusion
Improving serum vitamin D levels, recommending the consumption of calcium and vitamin D supplementations and advocating physical activity are the most effective interventions to reduce the risk of osteoporotic hip fractures.
doi:10.1186/2251-6581-12-10
PMCID: PMC3598997  PMID: 23497489
Osteoporotic fracture; Fragility hip fracture; Calcium; Vitamin D; BMI; Physical activity; Smoke; Prevalence; Incidence
5.  SLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria 
Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC34A3 gene that encodes the renal type 2c sodium-phosphate cotransporter. Our objective was to define the clinical course of these cases in a family with HHRH and to screen for SLC34A3 gene in order to determine whether these mutations are responsible for HHRH.
Methods: After clinical and biochemical evaluations, the entire SLC34A3 gene was screened using PCR amplification followed by direct sequencing technique. In this paper, we describe a new kindred with HHRH and a case of progressive and complicated HHRH presenting at age 27 years.
Results: We found 101-bp deletion in intron 9 of the SLC34A3 gene. The index patient was homozygous for this mutation which has been previously reported in a Caucasian population. This is the first report for presence of SLC34A3 intron 9 deletion in an Iranian population.
Conclusions: These data showed that HHRH can be easily missed or underdiagnosed. Genetic evaluation of patients with familial hypercalciuria, hypophosphatemia and nephrolithiasis is needed for further information on the prevalence and management of this rare disorder.
Conflict of interest:None declared.
doi:10.4274/jcrpe.601
PMCID: PMC3386779  PMID: 22672866
Hypophosphatemia; hypercalciuria; hereditary hypophosphatemic rickets with hypercalciuria; nephrocalcinosis; SLC34A3 gene
6.  A comprehensive test of clinical reasoning for medical students: An olympiad experience in Iran 
Background:
Although some tests for clinical reasoning assessment are now available, the theories of medical expertise have not played a major role in this filed. In this paper, illness script theory was chose as a theoretical framework and contemporary clinical reasoning tests were put together based on this theoretical model.
Materials and Methods:
This paper is a qualitative study performed with an action research approach. This style of research is performed in a context where authorities focus on promoting their organizations’ performance and is carried out in the form of teamwork called participatory research.
Results:
Results are presented in four parts as basic concepts, clinical reasoning assessment, test framework, and scoring.
Conclusion:
we concluded that no single test could thoroughly assess clinical reasoning competency, and therefore a battery of clinical reasoning tests is needed. This battery should cover all three parts of clinical reasoning process: script activation, selection and verification. In addition, not only both analytical and non-analytical reasoning, but also both diagnostic and management reasoning should evenly take into consideration in this battery. This paper explains the process of designing and implementing the battery of clinical reasoning in the Olympiad for medical sciences students through an action research.
doi:10.4103/2277-9531.94420
PMCID: PMC3577397  PMID: 23555113
Clinical reasoning; medical expertise; clinical reasoning; assessment; olympiad; battery
7.  Conceptualization of category-oriented likelihood ratio: a useful tool for clinical diagnostic reasoning 
BMC Medical Education  2011;11:94.
Background
In the diagnostic reasoning process medical students and novice physicians need to be made aware of the diagnostic values of the clinical findings (including history, signs, and symptoms) to make an appropriate diagnostic decision. Diagnostic reasoning has been understood in light of two paradigms on clinical reasoning: problem solving and decision making. They advocate the reasoning strategies used by expert physicians and the statistical models of reasoning, respectively. Evidence-based medicine (EBM) applies decision theory to the clinical diagnosis, which can be a challenging topic in medical education.
This theoretical article tries to compare evidence-based diagnosis with expert-based strategies in clinical diagnosis and also defines a novel concept of category-oriented likelihood ratio (LR) to propose a new model combining both aforementioned methods.
Discussion
Evidence-based medicine advocates the use of quantitative evidence to estimate the probability of diseases more accurately and objectively; however, the published evidence for a given diagnosis cannot practically be utilized in primary care, especially if the patient is complaining of a nonspecific problem such as abdominal pain that could have a long list of differential diagnoses. In this case, expert physicians examine the key clinical findings that could differentiate between broader categories of diseases such as organic and non-organic disease categories to shorten the list of differential diagnoses. To approach nonspecific problems, not only do the experts revise the probability estimate of specific diseases, but also they revise the probability estimate of the categories of diseases by using the available clinical findings.
Summary
To make this approach analytical and objective, we need to know how much more likely it is for a key clinical finding to be present in patients with one of the diseases of a specific category versus those with a disease not included in that category. In this paper, we call this value category-oriented LR.
doi:10.1186/1472-6920-11-94
PMCID: PMC3341573  PMID: 22094044
8.  Evidence-based history taking under “time constraint” 
Physicians all through the world visit patients under time limitations. The most important troubled clinical skill under “time constraint” is the diagnostic approach. In this situation, clinicians need some diagnostic approaches to reduce both diagnostic time and errors. It seems that highly experienced physicians utilize some special tactics in this regard. Evidence-based medicine (EBM) as a relatively new paradigm for clinical practice stresses on using research evidences in diagnostic evaluations. The authors aimed to evaluate experts’ strategies and assess what EBM can add to these tactics. They reviewed diagnostic strategies of some veteran internists in their busy outpatient clinics and proposed an evidence-based diagnostic model engaging clinical experience and research evidence. It appears that every clinician utilizes a set of “key pointer” questions for decision-making. In addition to use of evidence-based resources for making differential diagnosis and estimating utility of various diseases, clinicians should use “key pointers” with significant likelihood ratios and from independent systems to reduce time and errors of history taking. Clinical trainees can improve their practice by constructing their own set of pointers from valid research evidences. Using this diagnostic model, EBM can help physicians to struggle against their “time constraint”.
PMCID: PMC3214363  PMID: 22091274
Clinical Competence; Diagnosis; Evidence-Based Medicine; Outpatient Clinics; Hospital; Time Management
9.  Perceived Barriers to Information Access Among Medical Residents in Iran: Obstacles to Answering Clinical Queries in Settings with Limited Internet Accessibility 
Studies performed in the US and other Western countries have documented that physicians generate many clinical questions during a typical day and rely on various information sources for answers. Little is known about the information seeking behaviors of physicians practicing in other countries, particularly those with limited Internet connectivity. We conducted this study to document the perceived barriers to information resources used by medical residents in Iran. Our findings reveal that different perceived barriers exist for electronic versus paper-based resources. Notably, paper-based resources are perceived to be limited by resident time-constraints and availability of resources, whereas electronic resources are limited by cost decentralized resources (such as PDAs) and accessibility of centralized, Internet access. These findings add to the limited literature regarding health information-seeking activities in international healthcare settings, particularly those with limited Internet connectivity, and will supplement future studies of and interventions in such settings.
PMCID: PMC2655820  PMID: 18693891
10.  Normative data of bone Mineral Density in healthy population of Tehran, Iran: A Cross sectional study 
Background
Osteoporosis is a major problem and is a hidden epidemic disease in the world. Early diagnosis by measurement of Bone Mineral Density (BMD) and treatment can prevent and reduce disease complications, especially fractures. As there is no comprehensive study in Iran, this study designed to assess BMD discrepancy in 20–69 yr Tehran population as well as prevalence of osteoporosis and osteopenia.
Methods
553 people (34% men, 66%women) from 50 Blocks in Tehran randomly selected. The assessment of BMD in spine and femur region performed through DXA method. All subjects clinically examined and their BMIs determined.
Results
The average spinal BMD score in men were more than in women. The peak bone mass of spine bone both in men and women occurred during 20–29 yr and reduction began from the age of 40. At the age of 60 to 69, loose of bone density was 19.6% in lumbar spine and 18.5% in femur of women and also 7.9% in lumbar spine and 14.6% in femur of men. Prevalence of osteoporosis in this age group in lumbar spine and femur was 32.4% and 5.9% in women and 9.4% and 3.1% in men respectively.
Conclusion
In all age groups, peak bone mass was lower than European or American population, whereas the rate of bone loss was as much as the some population and actually this process justifies the prevalence of osteoporosis and osteopenia in Tehran population.
doi:10.1186/1471-2474-6-38
PMCID: PMC1180448  PMID: 15992408
11.  Discordance in diagnosis of osteoporosis using spine and hip bone densitometry 
Background
Diagnostic discordance for osteoporosis is the observation that the T-score of an individual patient varies from one key measurement site to another, falling into two different diagnostic categories identified by the World Health Organization (WHO) classification system. This study was conducted to evaluate the presence and risk factors for this phenomenon in a large sample of Iranian population.
Methods
Demographic data, anthropometric measurements, and risk factors for osteoporosis were derived from a database on 4229 patients referred to a community-based outpatient osteoporosis testing center from 2000 to 2003. Dual-energy X-ray absorptiometry (DXA) was performed on L1–L4 lumbar spine and total hip for all cases. Minor discordance was defined as present when the difference between two sites was no more than one WHO diagnostic class. Major discordance was present when one site is osteoporotic and the other is normal. Subjects with incomplete data were excluded.
Results
In 4188 participants (3848 female, mean age 53.4 ± 11.8 years), major discordance, minor discordance, and concordance of T-scores were seen in 2.7%, 38.9% and 58.3%, respectively. In multivariate logistic regression analysis, older age, menopause, obesity, and belated menopause were recognized as risk factors and hormone replacement therapy as a protective factor against T-score discordance.
Conclusion
The high prevalence of T-score discordance may lead to problems in interpretation of the densitometry results for some patients. This phenomenon should be regarded as a real and prevalent finding and physicians should develop a particular strategy approaching to these patients.
doi:10.1186/1472-6823-5-3
PMCID: PMC555556  PMID: 15762986
13.  Vitamin D deficiency and causative factors in the population of Tehran 
BMC Public Health  2004;4:38.
Background
There are multiple studies in different countries regarding the prevalence of vitamin D deficiency. These studies showed high prevalence of vitamin D deficiency in Asian countries. This study tries to elucidate the prevalence of vitamin D deficiency and its influencing factors in population of Tehran.
Methods
1210 subjects 20–64 years old were randomly selected. 25 (OH) D serum levels were measured. Duration of exposure to sunlight, the type of clothing and level of calcium intake and BMI were quantified based on a questionnaire.
Results
A high percentage of vitamin D deficiency was defined in the study population. Prevalence of severe, moderate and mild Vitamin D deficiency was 9.5%, 57.6% and 14.2% respectively. Vitamin D serum levels had no significant statistical relation with the duration of exposure to sunlight, kind of clothing and BMI. Calcium intake in the normal vitamin D group was significantly higher than the other groups (714.67 ± 330.8 mg/day vs 503.39 ± 303.1, 577.93 ± 304.9,595.84 ± 313.6). Vitamin D serum levels in young and middle aged females were significantly lower than the older group.
Conclusions
Vitamin D deficiency has a high prevalence in Tehran. In order to avoid complications of vitamin D deficiency, supplemental dietary intake seems essential.
doi:10.1186/1471-2458-4-38
PMCID: PMC517720  PMID: 15327695
vitamin d deficiency; calcium intake; sunlight exposure

Results 1-13 (13)