Medical Journal of The Islamic Republic of Iran (MJIRI)

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Usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. The disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. It appears to be more common among Jewish individuals and consanguinous marriages. While it is rare in the general population (3 cases per 100,000 population), it is significantly prevalent among those who are deaf. Most patients are forced to give up their profession around age 30 or 40 or earlier, either because of advancing failure of sight leading to blindness at age 50 or 60, or due to the other disabilities of the condition. Although a wide variety of treatments have been tried including surgery, endocrine therapy, vitamins, and transplants, at present the disease cannot be cured nor its course significantly altered. A program for prevention through high risk diagnostic screening, coupled with genetic counseling, is both feasible and practical. In this report, we present two siblings with this syndrome, as well as a general review of the history and literature concerning this disorder.

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Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abnormal. His brother had the same manifestations but with less severity and after subtotal thyroidectomy, the pathology report revealed follicular carcinoma. The youngest brother had hearing loss since childhood but a normal sized thyroid. We report three patients and compare the frequency of their symptoms with that reported in the literature.

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As IgM and IgA-enriched preparations are needed to complete the immunotherapeutic spectrum, a simple procedure is described for the preparation of IgM and IgA enriched immunoglobulins. Fraction III which was prepared by cold ethanol fractionation was treated by octanoic acid followed by ethanol precipitation and ion-exchange chromatography using Sephadex DEAE A-50 and 0.1 M tris-D.35M NaCI buffer, pH 8.1, resulting in recovery of 85 % IgM, 84% IgA and 33 % IgG. The comparison of our results with immunoglobulins' percentage in plasma indicates that IgM and IgA -enrichment was obtained by three times.

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MeduIIary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between true sporadic MTC and a new mutation familial case is important for future clinical management of both the patient and family. The susceptibility gene for hereditary MTC is the RET proto-oncogene. DNA analysis for germline mutations of the RET proto-oncogene was performed in a series of 24 patients with MTC [apparently sporadic MTC (20 cases), familial MTC (2 cases), MEN 2A (one case) and MEN 2B (one case)] to determine whether they were true sporadic cases or hereditary forms. Genomic DNA was amplified using polymerase chain reaction (PCR) and oligonucleotide primers for exons 10 & I 1. The PCR products were examined by restriction enzymes analysis to detect the mutations. One of the 20 patients with apparent sporadic MTC had exon 10 mutation (Cys-620 Arg) and exon I I mutation (Cys- 634 Trp) was also found in the index case with MEN 2A. No mutation was detected in the other patients. Three of six evaluated members of the MEN 2A patient had the same mutation. We conclude that routine application of RET proto-oncogene testing should be included in all cases of apparent sporadic MTC.

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   ABSTRACT

  Human blood and blood products is the source of a wide range of medicinal products used for the treatment and prevention of a variety of injuries and disease. Despite stringent routine measures and filters employed, residual pathogen infectivity remains an important challenge in the field of blood transfusion. In this article various measures and technologies that can be applied in order to reduce the residual risk are reviewed.

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  Abstract

  Background: To improve the debilitating features of Parkinson disease (PD) different

  medical and surgical approaches are available. Subthalamic nucleus deep brain

  stimulation (STN-DBS) was appeared to be a promising method during last two

  decades. This study aimed to evaluate early motor outcomes of this procedure in first

  trial of Iranian patients .

  Methods: Thirty-seven consecutive patients with advanced Parkinson disease with

  poor response to common medical agents underwent bilateral STN-DBS. For assessment of motor function parameters Unified Parkinson Disease Rating scale III (UPDRS III) was used. We compared total scores and subscores in three measurements performed as 1) preoperative off-medication, 2) preoperative on-medication and 3) six months postoperative on stimulation and on medication. Reduction in drug consumption was assessed with regard to administered doses of L-Dopa before and after surgery in stable states .

  Results: 26 men and 10 women with mean age of 50 years were evaluated (one person

  expired before 6-month follow-up). Mean total scores of UPDRSIII were calculated

  as 5.2±54.52, 2.88±18.22 and 3±12.8 in three measurements, respectively (p=0.003 ).

  PostHoc analyses showed significant improvement among all measurements. Analysis

  of subscores also revealed significant amelioration in rigidity, resting tremor, hand

  movement, leg agility, finger tap and rapid alternating movement in on-medication

  phases of pre- and post-operation (all with p<0.01). The mean administered L-Dopa

  were224±1296 mg/d and 174±782 mg/d before and after surgery, with significant decline

  ( p<0.001) in administered L-dopa dose .

  Conclusion: The results indicate that bilateral STN-DBS can lead to significant

  short-term improvement of the motor symptoms especially in some debilitating symptoms such as rigidity and tremor in advanced PD. It also accompanies with remarkable reduction in needed doses of drugs. The findings support other studies with similar follow - up interval however, continuous evaluations are needed for long-lasting effects .

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 Abstract

 Background: Enchondroma, is the most frequent bone tumor of the hand , but chondrosarcoma is rare at this location .There is a high possibility of correct diagnosis of enchondroma and differentiating from its malignant counterpart by precise clinical and radiologic assessment without biopsy, a subject of debate in the literature . At the present study we substantially investigate this problem, in our patients.

 Methods: Case records, radiographs, and histology of 52 solitary enchondroma patients who underwent operation in our hospital between 1998 and 2010, were reviewed. Special attention paid to pre and post –op diagnoses, and compared with each other.

 Results: Eighty-six percent of our patients were between the second to fourth decades of life, with a slight female predominance. In all, the primary diagnosis of enchondroma according to clinical presentation and radiographic appearance, supported by intraoperative gross appearance of tumor, and confirmed histologically by permanent section analysis. There was no mismatch between radiologic and histologic diagnosis.

 Conclusion: we concluded that correct diagnosis of enchondroma is almost always possible by precise clinical and radiographic assessment with no need for histologic confirmation before definitive treatment.

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 Abstract

 Background: The measurement of hand grip strength has several clinical applications to evaluate chronic hand disability, response to treatment, and work capacity after hand injury.

 Methods: We measured hand grip strength of 41 adults and compared their maximum strength with radiographic indices.

 Results: There was a significant relationship between hand grip strength and carpal height, third metacarpal and capitate length (All p-values<0.05).

 Conclusions: In addition to established factors such as sex, upper limb muscle and joint status, wrist radiographic indices are significantly determinants of hand power grip.

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 We present an exceedingly rare case of left Monteggia-Galeazzi fracture-dislocation and right Monteggiadistal radius fracture occurring simultaneously in a 20-year old male patient who had fallen 13 meters from a building. The combination of Monteggia and Galeazzi fracture-dislocation in the same forearm is very rare and, to the best of our knowledge, simultaneous bilateral Monteggia and Galeazzi or distal radius fracture in the same patient, have never been reported.

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Abstract

 

Background: Radiography is the most widely available imaging modality. Precise evaluations of wrist x-ray can help diagnosis and evaluate the prognosis of many wrist disorders.

 

Methods: We measured length, angles and indices in 150 posteroanterior and lateral wrist x-rays to determine normal dimensions and variations according to age and sex. All x-rays were made with standard exposure, with the wrist and forearm in a neutral position.

 

Results: The average carpal height ratio was 0.52±0.03 with the Youm method and 1.5±0.09 with the Nattrass method. Mean ulnar variance was +0.99±1.6 mm and mean radial inclination was 25±4 degrees. The average radial tilt was 10±5.1 degrees. Mean scapholunate angle was 50±8.4 degrees (normal range 40 -60).

 

Conclusion: Carpal height, third metacarpal and capitate length were smaller in women than in men. There was a significant positive relationship between all dimensions. Our data base may be used to follow-up in conditions such as carpal instability, osteoarthritis and osteonecrosis, as well as for clinical research.

 

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 Fracture of the proximal humerus associated with vascular injury has rarely been reported in children, and only two cases have been reported in the literature. In adults this combination has been reported more frequently. We present the case of a 14 year old boy with proximal humeral epiphyseal separation and axillary artery injury.

 

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Background: To investigate thyroid function in preeclamptic patients in comparison with normal pregnant women.

 

Methods: In this analytical cross-sectional study free Thyroxine (T4), and Thyroid Stimulating Hormone (TSH) levels were measured in 100 preeclamptic patients and were compared with Free T4 and TSH levels in 101 normal pregnant women in their third trimester of pregnancy. Patients with thyroid or other systemic disorders were excluded from this study.

 

Results: A significant difference in concentration of free T4 levels (0.729 ±0.324 ng/ dl versus 0.929± 0.314 ng/dl, p <0.001) was observed in the preeclamptic group compared with the normotensive group, but the mean TSH level was not significantly different (2.935±1.16 mIU/L versus 2.339±1/15 mIU/L, p = 0.170).

 

Conclusion: Women who develop preeclampsia are more likely to have lower normal limits of thyroid function during their final weeks of pregnancy.

 

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  The process of determining the minimum pass level to separate the competent students from those who do not perform well enough is called standard setting. A large number of methods are widely used to set cut-scores for both written and clinical examinations. There are some challenging issues pertaining to any standard setting procedure. Ignoring these concerns would result in a large dispute regarding the credibility and defensibility of the method. The goal of this review is to provide a basic understanding of the key concepts and challenges in standard setting and to suggest some recommendations to overcome the challenging issues for educators and policymakers who are dealing with decision-making in this field.

 

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  Radial polydactyly, the most common digital duplication in Asian and white populations, has a wide range of manifestations. Its classification is useful for planning and assessing surgical treatment. Our patient had four thumbs, duplicated radial carpal bones, and a bifurcated radius. This presentation is not covered by any of the current classifications. To the best of our knowledge, this is the first case of such characteristics reported to date. Consequently, we propose some modifications in the nomenclature and classification of radial polydactyly.

 

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Background: Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with a high risk of malignancy in childhood. This syndrome is an autosomal dominant cancer predisposing syndrome due to a germline mutation in the TP53 tumor suppressor gene.

  Methods: In this study, a representative family case of Li-Fraumeni syndrome is described. The proband of this family was a 43-year-old male who had osteosarcoma of the mandible and a positive family history of cancer.  His mother died at the age of 29 of brain cancer; his sister died at the age of 18 of breast cancer; his brother died at the age of 36 of liver cancer; and another sister of his died at the age of 16 of leukemia. Complete sequence analysis of the TP53 and PTEN genes was performed in this family. We used standard diagnostic tools such as sequencing and multiplex ligation-dependent probe amplification (MLPA) to analyze these two genes in this family. The exons and flanking exon-intron junctions of the TP53 and PTEN genes were sequenced.

  Results: We detected a germline mutation in the TP53 gene in this family that was previously reported as somatic mutation in LFS in the catalogue of somatic mutations in cancer (COSMIC). In addition, according to the International Agency for Research of Cancer (IARC) database, a 19-year-old male patient with sarcoma was recently reported to have this germline mutation. We also found two new IVS variations in the PTEN gene, one of which can be a suggestive evidence of an effect on the splicing of PTEN.

  Conclusion: Genomic modifications for tumor risk and genotype-phenotype correlations in LFS are still to be identified. We believe every new finding in this area can provide new insights into the pathogenesis and progression of Li-Fraumeni syndrome.

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Background: Fecal occult blood test (FOBT) is one of the common screening tests for colorectal cancer. This study was designed to determine the socio-cognitive determinants related to FOBT uptake for colorectal cancer screening based on intervention mapping (IM).
Methods: A total of 500 individuals aged over 50 years were randomly selected to participate in this study in Kermanshah, Iran, in 2016. Data were collected by interviews based on a questionnaire and analyzed by SPSS16 using bivariate correlation, linear, and logistic regression models.
Results: Of the 500 respondents, 468 (93.6%) signed the consent form and voluntarily participated in the study. Almost 11.1% of the participants had a history of FOBT uptake. Socio-cognitive variables accounted for 38% of the variation in the outcome measure of the intention to uptake FOBT. Perceived self-efficacy (OR = 3.345 & 95% CI: 1.342, 8.339), perceived susceptibility (OR = 2.204& 95% CI: 1.320, 3.680), attitude (OR = 1.674& 95% CI: 1.270, 2.137), and perceived severity (OR = 1.457& 95% CI: 0.954, 2.224) were the strongest predictors of fecal occult blood test uptake.
Conclusion: IM-based analysis of behavior may provide insights to design interventions for modifying individuals’ beliefs about the usefulness of FOBT uptake to prevent colorectal cancer.
 
 

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Background: A few studies have been done regarding the validity and reliability of the Mini-Peer Assessment Tool across various specialties. This study was conducted to determine the reliability, content and construct validity of Mini-Peer Assessment Tool to assess the competency of emergency medicine residents.
   Methods: This study was carried out to investigate the psychometric properties of the mini-PAT tool to evaluate the professional competencies of emergency medicine residents in educational hospitals affiliated to Tehran University of Medical Sciences. The initial Mini-Peer Assessment Tool was translated into Persian. After that, the content validity index and content validity ratio determined by consulting 12 professors of emergency medicine. The construct validity was determined with exploratory factor analysis and investigation of the correlation coefficient on 31 self and 248 peer assessment cases.
The reliability of the mini peer assessment tool was determined by internal consistency and item deletion by using Cronbach’s alpha coefficient. Reliability was also assessed by determining the agreement between the two tools of self-assessment and peer assessment by using the diagram Bland and Altman.
   Results: The results showed content validity ratio (CVR) of the items ranged from 0.56 to 0.83, and the content validity index (CVI) of the items ranged from 0.72 to 0.90. The reliability of the self-assessment and peer-assessment tools were 0.83 and 0.95 respectively and there was a relative agreement between the self-assessment method and the peer assessment method. Finally, the tool underwent exploratory factor analysis resulting extraction into two factors namely ‘clinical competencies’ and ‘human interactions’ in the peer assessment tool. In the self-assessment tool, the factors of ‘good practice’ and ‘technical competence’ were extracted.
  Conclusion: The results of the present study provided evidence of the adequacy of content validity, reliability of the contextually customized mini-peer assessment tool in assessing the competencies of emergency medicine residents.
 

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Background: Coronavirus disease 2019 (COVID-19) is a contagious disease caused by a newly identified coronavirus. Our knowledge about the survival rate and prognostic factors of the disease is not established well. The purpose of this study was to evaluate the predictors of COVID-19 mortality in Hamadan province in western Iran.
   Methods: In this study, we included all laboratory-confirmed COVID-19 cases with known treatment outcomes in Hamadan province, Iran, between 20, 2020, to May 10, 2020. Demographic, clinical, laboratory data, and treatment outcomes were obtained from computerized medical records and compared between survived cases and patients with death outcomes. Univariable and multivariable logistic regression models were used to determine the predictors of death.
   Results: From 749 investigated patients, 77 patients (10.28%) died during the treatment. The Mean age of patients was 53.97±19.04 years. Multivariable logistic regression showed that males had 2.07 (95% CI: 1.73, 2.54) fold higher odds of death. Those with 60 years old and more had 6.49 (95% CI: 4.53, 7.93) fold higher odds of death. Patients with an underlying disease had 7.14 (95% CI: 6.94, 7.38) fold higher odds of death, and patients who were hospitalized in the ICU ward had 2.24 (95% CI: 1.75, 2.90) times higher odds of COVID-19 related mortality.
   Conclusion: The potential predictors of death in COVID-19 cases, including the male gender, older age, and having an underlying disease could help physicians to identify patients with poor prognoses at an early stage and better management of them.
 

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Background: Effective leadership is critical for the performance of health care teams and their intended outcomes for patient care. Given that team leadership is a modifiable and teachable skill, there is a need for a better understanding of this multidimensional behavior to inform future leadership training for health care action (HCA) teams. This systematized review identifies reported observed leadership behaviors in HCA teams, defined as interdisciplinary teams which complete vital tasks in complex, time-pressured, and dynamic situations,
   Methods: We searched CINAHL, MEDLINE, Scopus, PsycINFO, and Web of Science for peer-reviewed, English language articles using single and combinations of keywords including leadership, health care action team, and teamwork, individually. We included articles published until June 2021 without any specific beginning date.
   Results: From 242 records, 13 articles were included in the review. We categorized our findings of team leadership behaviors in HCAs based on an existing framework of three dimensions: transition processes, action processes, and interpersonal skills. The most-reported behaviors for transition processes were encouraging team members’ input, (re)assessing the team’s situation, and confirming team members’ understandings. The action processes dimension consisted of behaviors that included monitoring the progress of the patient, managing resources, asking for help when needed, coaching/supervising, and assisting team members as needed. Finally, closed-loop communication and facilitating team members speaking up behaviors were categorized as interpersonal skills.
   Conclusion: Although team leadership has been an area of focus in the field of health professions education, little attention has been paid to identifying the observable behaviors of effective team leaders in an HCA team. The study identified several new essential team leadership behaviors that had not been previously described, including seeking feedback, shared decision making, and aspects of interpersonal communication.  The findings can inform educators in planning and implementing strategies to enhance HCA team leadership training, with the ultimate potential to improve health care.