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INTRODUCTION: Previous research has delved into the attitudes and behaviors of diverse professions regarding environmental sustainability. However, there needs to be more research specifically targeting radiographers. This study aims to survey radiographers' perceptions, practices, and barriers to change concerning environmental sustainability in radiology. METHODS: Institutional ethical approval was obtained (IRB-COHS-FAC-110-2024) and data collection was conducted using Google Forms (Google Inc., Mountain View, CA). The survey targeted 104 practicing radiographers across several countries. Questions were structured around five domains to gather insights into demographics, training in global warming and climate change, perceptions of sustainability and climate change, sustainability barriers, and current radiology practices on sustainability. Data analysis utilized descriptive and d inferential statistics. RESULTS: One hundred and four radiographers completed the study. Females had a significantly higher attendance rate in environmental protection campaigns (P = 0.01). The majority of respondents (68%) believe in climate change's knowledge and impact on the natural world. Our survey findings demonstrate that 74% of respondents believe there's a need to improve sustainability practices. The most commonly used strategies to decrease energy consumption and emissions were low-energy lighting (60%), real-time power monitoring tools (41%), and energy-efficient heating systems (32%). A significant concern regarding sustainability emerges among respondents: time (50%) and lack of leadership (48%) are prevalent concerns among the identified barriers. CONCLUSION: Participants are recognising the importance of environmental sustainability in radiology, but lack of leadership, support, authority, and facility limitations hinder their adoption. IMPACT ON PRACTICE: Radiology must prioritize environmental sustainability by providing resources and training for radiographers and collaborating with healthcare professionals, policymakers, and environmental experts to develop comprehensive strategies for a sustainable healthcare system.
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OBJECTIVES: Based on a narrative review of the literature to 1) assess the need for and 2) report methods to help deliver a sustainable approach to iodinated contrast media (ICM) administration. KEY FINDINGS: Acute ICM shortages have been noted in the literature. As demand for contrast-enhanced imaging continues to increase and access to raw materials becomes more limited, such events may increase. Evidence from the literature has documented a range of iodinated contrast reduction strategies. These include individualised contrast-media dosing, multi-dose bulk ICM vials, switching to alternative modalities or the increased use of non-contrast examinations. The optimisation of imaging parameters, the use of saline chasers, and alternative contrast agents should be further considered. Given the rising concerns regarding the presence and effects of ICMs in waste and drinking water, further consideration of strategies for managing waste and excreted ICMs are starting to emerge. CONCLUSIONS: Sustainable ICM practices are needed to help avoid supply shortages and to help protect our environment. Such practices must be led and supported locally, nationally, and internationally. Sustainable ICM practices must be reflected within professional Standards of Proficiencies and be adopted by all members of the multidisciplinary team. IMPLICATIONS FOR PRACTICE: Changes to working practices surrounding the sustainable use of ICMs will likely become commonplace. New methods to ensure optimised ICM dosage with minimal wastage will be more heavily featured in departmental practices. Correct disposal of waste and excreted ICMs will also form part of future changes to practice.
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INTRODUCTION: Autism Spectrum Disorder (ASD) poses unique challenges in healthcare settings, including radiographic examinations. This study aimed to assess the knowledge, attitudes, and practices (KAP) of radiographers in the United Arab Emirates (UAE) towards ASD children, a population with increased healthcare needs. METHODS: A cross-sectional survey was conducted online, targeting radiographers across the UAE. The instrument utilized was a comprehensive and validated self-administered questionnaire developed based on relevant literature. The questionnaire incorporated sections to gauge radiographers' knowledge about ASD, their attitudes towards working with ASD children, and their adherence to recommended practices during radiographic examinations. Descriptive and inferential statistics were employed to describe KAP and identify any influencing factors. RESULTS: Radiographers demonstrated a moderate level of knowledge regarding ASD. Despite the knowledge, misconceptions about ASD nature were common. The radiographers generally acknowledged the need for special care for ASD children during radiographic procedures. High confidence in working with ASD children was noted, particularly among older participants, despite a clear interest in further training. Good adherence to recommended practices was observed, with physical restraints not being a common practice. However, areas for improvement were identified, such as the use of visual aids. CONCLUSION: Despite a moderate level of knowledge and good practices, there is a need to improve UAE radiographers' understanding and handling of ASD children. IMPLICATIONS FOR PRACTICE: This study highlights the need for enhancing ASD-specific knowledge and training and integrating supportive tools in radiographic procedures. This comprehensive approach could significantly improve the radiographic service quality for ASD children in the UAE.
Subject(s)
Autism Spectrum Disorder , Child , Humans , Autism Spectrum Disorder/diagnostic imaging , Autism Spectrum Disorder/therapy , Health Knowledge, Attitudes, Practice , Cross-Sectional Studies , Allied Health Personnel , Diagnostic ImagingABSTRACT
OBJECTIVES: The aim of this paper is to illustrate the current status of imaging in high breast density as we enter a new decade of advancing medicine and technology to diagnose breast lesions. KEY FINDINGS: Early detection of breast cancer has become the chief focus of research from governments to individuals. However, with varying breast densities across the globe, the explosion of breast density information related to imaging, phenotypes, diet, computer aided diagnosis and artificial intelligence has witnessed a dramatic shift in new screening recommendations in mammography, physical examination, screening younger women and women with comorbid conditions, screening women at high risk, and new screening technologies. Breast density is well known to be a risk factor in patients with suspected/known breast neoplasia. Extensive research in the field of qualitative and quantitative analysis on different tissue characteristics of the breast has rapidly become the chief focus of breast imaging. A summary of the available guidelines and modalities of breast imaging, as well as new emerging techniques under study that can potentially provide an augmentation or even a replacement of those currently available. CONCLUSION: Despite all the advances in technology and all the research directed towards breast cancer, detection of breast cancer in dense breasts remains a dilemma. IMPLICATIONS FOR PRACTICE: It is of utmost importance to develop highly sensitive screening modalities for early detection of breast cancer.
Subject(s)
Breast Neoplasms , Artificial Intelligence , Breast/diagnostic imaging , Breast Neoplasms/diagnostic imaging , Female , Humans , Magnetic Resonance Imaging , MammographyABSTRACT
INTRODUCTION: Nosocomial infections add health-related and financial burdens on health systems. This study aims to evaluate the radiographers' knowledge of nosocomial infection control practices in Jordan. METHODS: A cross-sectional questionnaire-based assessment was conducted. The main domains of the knowledge based test were the nature of nosocomial infections, standard precautions, and infection control practices specific to the radiology department. Comparison of knowledge among radiographers was assessed using the Student t-test and ANOVA. Multiple linear regression was used to find predictors of the knowledge score. RESULTS: The final analysis included 100 radiographers from educational, private, and public hospitals. Mean knowledge score was 66.2% (SD: 20.3%, range: 25.0-100%). Questions with the lowest correctly scored were about the main source of infections (17%), recapping used needles (27%), gloves use (27%), the necessity of using overshoes (26%) and a cap (26%) when there is a risk of biological fluid splashes, the necessity of using sterile gloves (7%) and protective masks (5%) during all invasive procedures, the manoeuvrability around a sterile field (54%), and the safety of passing the imaging plate to the scrub nurse in order to place it under the radiographer's direction (37%). Predictors of knowledge score were the academic degree and training status (R2 = 0.21, P < 0.001). CONCLUSION: Knowledge of infection control practices among Jordanian radiographers was moderate. Future training should focus on handling used needles, the use of protective barriers, and the manoeuvrability around sterile fields. Improved academic curriculum and on-site training could enhance knowledge in infection control practices.
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Cross Infection/prevention & control , Health Knowledge, Attitudes, Practice , Infection Control/standards , Radiology , Adult , Cross-Sectional Studies , Female , Humans , Jordan , Male , Surveys and Questionnaires , WorkforceABSTRACT
Tracheostomy decannulation has always been considered a procedure with an attendant risk, especially in patients with a reduced upper airway diameter as is commonly observed in the obstructive sleep apnoea (OSA) population. We report on 4 cases where transoral robotic surgery (TORS) helped in the management of long-term cannulated patients. The aims of our paper are: 1. To demonstrate how the otolaryngology team can help identify patients at high risk for decannulation failure; and 2. To demonstrate how TORS may aid in the decannulation process of patients at high risk for failure due to severe tongue base hypertrophy. From our experience, TORS appears to offer an effective option to aid in the decannulation of patients with a severe hypertrophy of the base of tongue and floppy epiglottis.
Subject(s)
Device Removal , Robotic Surgical Procedures/methods , Tracheostomy , Adult , Aged , Catheterization/instrumentation , Female , Humans , Male , Middle Aged , Mouth , Risk AssessmentABSTRACT
BACKGROUND: There is a need for high-level evidence regarding the added value of laparoscopic (LLR) compared with open (OLR) liver resection. The aim of this study was to compare the surgical and oncological outcomes of patients with colorectal liver metastases (CRLM) undergoing LLR and OLR using propensity score matching to minimize bias. METHODS: This was a single-centre retrospective study using a prospective database of patients undergoing liver resection for CRLM between August 2004 and April 2015. Co-variates selected for matching included: number and size of lesions, tumour location, extent and number of resections, phase of surgical experience, location and lymph node status of primary tumour, perioperative chemotherapy, unilobar or bilobar disease, synchronous or metachronous disease. Prematching and postmatching analyses were compared. Surgical and oncological outcomes were analysed. RESULTS: Some 176 patients undergoing LLR and 191 having OLR were enrolled. After matching, 133 patients from each group were compared. At prematching analysis, patients in the LLR group showed a longer overall survival (OS) and higher R0 rate than those in the OLR group (P = 0·047 and P = 0·030 respectively). Postmatching analyses failed to confirm these results, showing similar OS and R0 rate between the LLR and OLR group (median OS: 55·2 versus 65·3 months respectively, hazard ratio 0·70 (95 per cent c.i. 0·42 to 1·05; P = 0·082); R0 rate: 92·5 versus 86·5 per cent, P = 0·186). The 5-year OS rate was 62·5 (95 per cent c.i. 45·5 to 71·5) per cent) for OLR and 64·3 (48·2 to 69·5) per cent for LLR. Longer duration of surgery, lower blood loss and morbidity, and shorter postoperative stay were found for LLR on postmatching analysis. CONCLUSION: Propensity score matching showed that LLR for CRLM may provide R0 resection rates and long-term OS comparable to those for OLR, with lower blood loss and morbidity, and shorter postoperative hospital stay.
Subject(s)
Colorectal Neoplasms , Laparoscopy/statistics & numerical data , Liver Neoplasms/secondary , Liver Neoplasms/surgery , Adult , Aged , Female , Hepatectomy/methods , Hepatectomy/mortality , Hepatectomy/statistics & numerical data , Humans , Kaplan-Meier Estimate , Laparoscopy/methods , Laparoscopy/mortality , Length of Stay/statistics & numerical data , Liver Neoplasms/mortality , Male , Middle Aged , Operative Time , Propensity Score , Prospective Studies , Retrospective Studies , Treatment OutcomeABSTRACT
AIM: To compare readers' performance in detecting architectural distortion (AD) compared with other breast cancer types using digital mammography. MATERIALS AND METHODS: Forty-one experienced breast screen readers (20 US and 21 Australian) were asked to read a single test set of 30 digitally acquired mammographic cases. Twenty cases had abnormal findings (10 with AD, 10 non-AD) and 10 cases were normal. Each reader was asked to locate and rate any abnormalities. Lesion and case-based performance was assessed. For each collection of readers (US; Australian; combined), jackknife free-response receiver operating characteristic (JAFROC), figure of merit (FOM), and inferred receiver operating characteristic (ROC), area under curve (Az) were calculated using JAFROC v.4.1 software. Readers' sensitivity, location sensitivity, JAFROC, FOM, ROC, Az scores were compared between cases groups using Wilcoxon's signed ranked test statistics. RESULTS: For lesion-based analysis, significantly lower location sensitivity (p=0.001) was shown on AD cases compared with non-AD cases for all reader collections. The case-based analysis demonstrated significantly lower ROC Az values (p=0.02) for the first collection of readers, and lower sensitivity for the second collection of readers (p=0.04) and all-readers collection (p=0.008), for AD compared with non-AD cases. CONCLUSIONS: The current work demonstrates that AD remains a challenging task for readers, even in the digital era.
Subject(s)
Breast Neoplasms/diagnostic imaging , Clinical Competence , Aged , Australia , Female , Humans , Mammography , Middle Aged , Observer Variation , Radiographic Image Enhancement , Sensitivity and Specificity , United StatesABSTRACT
OBJECTIVES: The purpose of this study was to assess and compare the dental health and oral hygiene status of subjects with unilateral and bilateral cleft lip and palate (BCLP). METHODS: Oral and dental examinations were carried out in 98 children with cleft lip and palate and 98 unaffected subjects matching in gender and age, using the standard dental indices dmft and DMFT. Plaque and gingival indices were scored using the plaque and gingival indices of Silness and Löe. RESULTS: The prevalence of dental caries was significantly higher in children with cleft lip and palate than their control in both permanent and deciduous teeth. Patients with BCLP experienced more dental caries than unilateral cleft lip and palate (UCLP) patients in both dentitions. Similarly, plaque accumulation and gingivitis were significantly higher in the cleft lip and palate patients compared with their controls. Only plaque accumulation was significantly higher in the BCLP patients than in the UCLP patients. CONCLUSION: Bilateral cleft lip and palate patients appear to be at a higher risk of caries experience and poorer in oral hygiene than those with UCLP patients. These findings not only provide a baseline for oral health parameters in patients with cleft lip and palate but also emphasize the need for intensive preventive measures of oral disease to optimize clinical outcome.
Subject(s)
Cleft Lip/complications , Cleft Palate/complications , Dental Caries/complications , Dental Plaque/complications , Oral Hygiene , Adolescent , Case-Control Studies , Child , Child, Preschool , DMF Index , Dental Plaque Index , Female , Functional Laterality , Health Status , Humans , Jordan , Male , Oral Health , Reference Values , Sex FactorsABSTRACT
AIM: The aims of this study were to assess and compare the dental development in patients with unilateral (UCLP) and bilateral (BCLP) cleft lip and palate. STUDY DESIGN: Dental developmental delay was compared between 40 UCLP patients (20 boys and 20 girls, average age 9.6 +/- 2.7 years) and 40 BCLP patients matched by sex and age (to the nearest 6 months). For the purpose of comparison, a total of 80 panoramic radiographs of unaffected group matching in age and sex were selected randomly. METHODS: Using panoramic radiographs, the seven left mandibular permanent teeth, second molar to central incisor, were rated on eight stage scales using the methods described by Demirjian et al. [1973]. The stage of each tooth was converted to the corresponding numeric value, and then all values were added to obtain a dental maturity score, which corresponded to a dental age. STATISTICS: The differences in developmental delay between the two cleft groups were determined using independent t-test. RESULTS: There was statistically significant difference (P<0.0001) between chronologic and dental age in cleft patients. The mean dental development delay in UCLP was 0.34 years and for BCLP was 0.61 years. BCLP patients were found to have a greater delay than UCLP patients (P<0.05). Girls showed an advanced dental development in both types of clefts. Comparison between the two cleft groups showed only significant difference in the amount of delay in female subjects. CONCLUSION: Dental development in UCLP and BCLP patients was significantly delayed compared to non cleft reference. Dental development in boys was significantly behind that of girls. A significant difference in the amount of delay between both cleft types was found only in female subjects.
Subject(s)
Cleft Lip/physiopathology , Cleft Palate/physiopathology , Tooth/growth & development , Case-Control Studies , Female , Humans , Jordan , MaleABSTRACT
The aim of this prospective study was to assess donor site morbidity associated with open iliac crest bone harvesting to graft secondary alveolar clefts. At a university teaching hospital, 64 Jordanian patients underwent secondary alveolar bone grafting with iliac crest bone harvest. The same standardized surgical technique was used over a 6-year period by a single maxillofacial surgeon. The duration of time until postoperative ambulation and length of hospitalization were recorded. A graded visual analog scale of 1-10 was used to score the patient's postoperative pain, and perception of surgical scar and procedure. More than 76% of the patients found that postoperative pain at the hip donor site was as or less than they had expected, and the median value for the worst pain was 4. About 42% of the patients found the hip donor site to be more painful than the mouth. About 91% of the patients reported walking within the first 24h postoperatively and 89% of the patients were able to walk with normal gait within 2 weeks of surgery. The procedure was considered to result in an esthetically acceptable donor site scar, which was rated highly by patients. Harvesting bone from the iliac crest is well tolerated by patients and has low morbidity.
Subject(s)
Bone Transplantation/methods , Cleft Lip/surgery , Cleft Palate/surgery , Tissue and Organ Harvesting/adverse effects , Adolescent , Adult , Alveoloplasty/methods , Child , Cicatrix/physiopathology , Cicatrix/psychology , Esthetics , Female , Follow-Up Studies , Gait/physiology , Hospitalization , Humans , Ilium/surgery , Length of Stay , Male , Pain Measurement , Pain, Postoperative/etiology , Patient Satisfaction , Prospective Studies , Time Factors , Walking/physiologyABSTRACT
The aim of this study was to report the results of long-term clinical and radiological follow up of the surgical management of central giant cell granuloma of the maxilla. A retrospective analysis was conducted on 12 patients--5 male and 7 female whose ages ranged from 9 to 41 years, with central giant cell granuloma of the maxilla treated between 1991 and 2000. The anterior maxilla was involved in five cases, seven cases were in the posterior region, and none crossed the midline. Four patients were asymptomatic and eight patients presented with pain, mobility of teeth, and rapidly enlarging facial swelling. Radiographically, all lesions were radiolucent; 58.3% were unilocular, and the borders were well-defined in 33.3%. Roots were commonly displaced by the lesion, but no root resorption was observed. Cortical perforation was seen clinically and on CT scan in four patients. All cases were treated with thorough curettage until healthy bone was encountered. In cases with cortical perforation the affected buccal and/or palatal mucosa was excised. When the maxillary sinus was affected or the lesion was bulging into the nose, the nasal mucosa was also removed. All patients were reviewed annually for a follow-up period of 2-9 years; the condition recurred in two patients. It is concluded that thorough curettage is a satisfactory method for the treatment of non-aggressive and aggressive central giant cell granuloma of the maxilla, with a low recurrence rate and favorable postoperative outcome.
Subject(s)
Granuloma, Giant Cell/surgery , Maxillary Diseases/surgery , Adolescent , Adult , Bone Resorption/diagnostic imaging , Child , Curettage , Facial Pain/etiology , Female , Follow-Up Studies , Granuloma, Giant Cell/diagnostic imaging , Humans , Longitudinal Studies , Male , Maxilla/surgery , Maxillary Diseases/diagnostic imaging , Maxillary Sinus/surgery , Mouth Mucosa/surgery , Nasal Mucosa/surgery , Radiography, Panoramic , Recurrence , Retrospective Studies , Tomography, X-Ray Computed , Tooth Mobility/etiology , Tooth Root/diagnostic imaging , Treatment OutcomeABSTRACT
Familial Mediterranean Fever (FMF) is a recessively inherited disorder, characterized by episodic fever, abdominal and arthritic pain, as well as other forms of inflammation. Some FMF patients present higher IgD serum levels, and it is not yet known whether such an elevation is related to specific genotypes or correlated with a specific phenotype. In order to evaluate the association between known FMF-related mutations and IgD levels in confirmed patients, as well as the correlation between those levels and the presence of specific clinical signs, genotypic analysis and IgD plasma measurements were performed for 148 Lebanese and Jordanian FMF patients. Most common mutational patterns were M694V heterozygotes (19%) and homozygotes (17%), and V726A heterozygotes (18%) and homozygotes (5%), with an additional 11% combining both mutations. Twenty-one patients had higher IgD levels (superior to 100 microg/ml). The risk for higher IgD levels was significantly associated with M694V homozygote status (OR = 6.25) but not with heterozygotic one (OR = 1). Similarly, the risk for higher IgD was also found with V726A homozygotes (OR = 2.2) but not with heterozygotes (OR = 1.05). The use of colchicine was not statistically associated with IgD levels. Clinically, hyper IgD was also found significantly associated with arthritis (OR = 18). Thus, homozygotic status for M694V, and to a lesser extent V726A, is associated with increased risk for higher IgD plasma levels, regardless of colchicine use. Elevated IgD plasma levels are also correlated with the severity of FMF manifestations, and especially with arthritis.
Subject(s)
Familial Mediterranean Fever/blood , Familial Mediterranean Fever/genetics , Cytoskeletal Proteins , DNA/genetics , Familial Mediterranean Fever/pathology , Genotype , Humans , Immunoglobulin D/blood , Mutation , Mutation, Missense , Proteins/genetics , Pyrin , Severity of Illness IndexABSTRACT
A prospective study was carried out on 210 cases of children under 10 years of age with fever. Cases of gastroenteritis, respiratory tract infections, and suspected sepsis in children seen or admitted to the pediatric hospital were studied. Clinical and microbiological data were recorded in a questionnaire or obtained from patient medical records. Most of the children with septicemia (71.3 per cent) were less than 1 year old. Focal source of bacteremia was gastroenteritis (40.4 per cent), pneumonia or bronchopneumonia (20 per cent), meningitis (7.4 per cent), and urinary tract infections (7.4 per cent). The predominant pathogens isolated from blood or stool specimens were gram-positive bacteria (53.3 per cent), mainly Streptococcus pneumoniae and coagulase-negative Staphylococcus spp. The gram-negative bacteria (45.6 per cent) were mainly Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae, Neisseria meningitidis, and Yersinia spp. One case of Candida albicans (1.1 per cent) was reported. Pasteurella pneumotropica was reported in two cases for the first time. The mortality rate was 4 per cent, mostly from septicemia cases. Long duration of hospitalization (> 10 days) and parenteral feeding were identified as risk factors. Resistance of the isolated pathogens to several commonly used antibiotics was observed. Empirical treatment with antibiotics is recommended only in life-threatening cases.
Subject(s)
Anti-Bacterial Agents/pharmacology , Bacteremia/epidemiology , Bacteremia/microbiology , Gram-Negative Bacteria/isolation & purification , Gram-Positive Bacteria/isolation & purification , Age Distribution , Analysis of Variance , Anti-Bacterial Agents/administration & dosage , Bacteremia/drug therapy , Child, Preschool , Developing Countries , Female , Humans , Incidence , Infant , Infant, Newborn , Jordan/epidemiology , Male , Microbial Sensitivity Tests , Probability , Prospective Studies , Risk Factors , Severity of Illness IndexABSTRACT
To determine the etiology of acute diarrhea in Jordanian children under 5 years of age, we examined stool samples from 265 children admitted to the pediatric ward at Princess Rahma Hospital for Children, Irbid, Jordan, for parasites, rotavirus and enteric bacteria. Using both traditional and molecular diagnostic techniques, we detected enteropathogens in 66.4% of patients with diarrhea. A single enteric pathogen was detected in 50.9% of the children, and multiple pathogens were detected in 15.5%. The prevalence of enteropathogens identified was as follows: rotavirus (32.5%), enteropathogenic Escherichia coli (12.8%), enteroaggregative E. coli (10.2), enterotoxigenic E. coli (5.7%), Shigella spp. (4.9%), Entamoeba histolytica (4.9%), Salmonella spp. (4.5%), Campylobacter jejuni/coli (1.5%), Cryptosporidium spp. (1.5%), enteroinvasive E. coli (1.5%), eae-, Ehly-positive E. coli (0.8%), Giardia lamblia (0. 8%) and Yersinia enterocolitica (0.4%). No Vibrio cholerae, Shiga toxin-producing E. coli, microsporidia, adenovirus or small round virus were detected. Findings from this study demonstrate that rotavirus and several types of diarrheagenic E. coli, which are not screened for during routine examinations of stool samples in public health laboratories, were the most frequently detected enteropathogens in these children. Our findings highlight the value of using a combination of traditional and molecular techniques in the diagnosis of diarrheal disease in this population.
Subject(s)
Bacteria/isolation & purification , Diarrhea/etiology , Eukaryota/isolation & purification , Rotavirus/isolation & purification , Acute Disease , Animals , Child, Preschool , DNA Primers , Diarrhea/epidemiology , Diarrhea/pathology , Escherichia coli/genetics , Escherichia coli/isolation & purification , Feces/microbiology , Feces/parasitology , Female , Hospitalization , Humans , Infant , Infant, Newborn , Jordan/epidemiology , Male , PrevalenceABSTRACT
Familial Mediterranean fever is an autosomal recessive disorder characterised by episodic fever, abdominal and pleuritic pain, serositis and arthritis. The FMF gene (MEFV) has been mapped to chromosome 16p13.3 and generates a protein found exclusively in granulocytes. Seventeen mutations have been reported up to the present in FMF patients. This study involves the screening of 14 mutations in 42 Jordanian patients by two methods: RFLP and ARMS. The most frequent mutations were M694V and V726A (20% and 14% of the alleles respectively), followed by M680I and E148Q (9.5% and 7% of the alleles respectively). The A744S mutation accounts for 2.5% and the M694I, T267I and F479L mutations account each for 1% of the alleles. E167D, R761H, P369S, I692del and M694del mutations were not found in this population. Forty-four percent of the alleles did not have any of the 14 mutations. The results show the diversity and the frequency of the mutations in the Jordanian patients, and open the way for further investigations on patients diagnosed to have FMF and in whom no mutations were found. Hum Mutat 15:384, 2000.
Subject(s)
Familial Mediterranean Fever/epidemiology , Familial Mediterranean Fever/genetics , Mutation/genetics , Adolescent , Adult , Alleles , Arabs/genetics , Armenia/ethnology , Child , Child, Preschool , Female , Genetic Testing/methods , Humans , Italy/ethnology , Jews/genetics , Jordan/epidemiology , Lebanon/ethnology , Male , Turkey/ethnologyABSTRACT
Cystic fibrosis is believed to be rare in Arabs. We report 202 cases (114 boys and 88 girls) diagnosed in Jordan over a period of 9 years. The mean age at diagnosis was 2.9 years. Classical presentation with growth failure, malabsorption and respiratory symptoms occurred in 75.4% of cases. Eighteen (10.8%) presented with hepatomegaly, 12 (7.2%) with meconium ileus and 11 (6.6%) had Pseudo-Bartter syndrome. Thirty-eight (23%) children died, most below the age of 1 year which may reflect a more severe disease in our population. Consanguineous marriage was present in 69% of cases. Genetic screening of 84 children and 66 parents revealed 24 different CFTR mutations with a DF508 mutation accounting for only 7.4%. Among the mutations detected, six were alleles identified for the first time. The fact that boys outnumber girls might reflect more deaths in girls due to the observed gender gap in CF mortality. It is possible that the low incidence of the DF508 mutation is due to a confounding effect and the high mortality in those carrying this mutation. The large number of different mutations reflects the ethnic diversity of the Jordanian population and the complex history of the country.
Subject(s)
Arabs , Cystic Fibrosis/ethnology , Adolescent , Age of Onset , Child , Child, Preschool , Consanguinity , Female , Follow-Up Studies , Humans , Infant , Jordan/epidemiology , Jordan/ethnology , MaleABSTRACT
The clinical picture of familial Mediterranean fever (FMF) has been appreciably expanded in the last 10 years. Over 8 years, we studied the expanded clinical profile of FMF in 476 children. Of these, 81% had abdominal pain, 41% chest pain, 42% arthritis, 12% severe myalgia, 12% skin manifestations, 4% scrotal swelling, 3% recurrent episodic fever, and one child (0.2%) developed recurrent hyperbilirubinaemia. Two (0.4%) children developed renal complications which were reversed by colchicine; however of 19 probands, 36 family members suffered from chronic renal failure. Our study indicates a familial predisposition to nephropathy in certain families with FMF. This study is the first to report the expanded clinical profile of FMF in a large group of Arab children, giving an opportunity to compare the findings with those in children with FMF in other ethnic groups, and to help in the study of genotype-phenotype correlation.
Subject(s)
Familial Mediterranean Fever/diagnosis , Abdominal Pain/etiology , Age of Onset , Amyloidosis/etiology , Child , Child, Preschool , Ethnicity , Familial Mediterranean Fever/complications , Familial Mediterranean Fever/ethnology , Female , Humans , Immunoglobulin D/analysis , Infant , Infant, Newborn , Jordan , Male , Pedigree , PrevalenceABSTRACT
OBJECTIVES: To study the natural course and outcome of recurrent episodic fever without serositis as a presenting feature of familial Mediterranean fever (FMF). PATIENTS: Of 309 children with FMF seen over a period of 5 years, 8 presented with recurrent episodes of fever without serositis, imposing a difficult diagnostic problem. RESULTS: The age at onset of fever ranged between 5 months and 8 years with a mean of 2.5 years. Five patients eventually developed serositis. The duration between onset of fever and onset of serositis ranged between 1.5-3 years with a mean of 2 years. Of the 3 patients who did not develop serositis, 2 had a family history of FMF. Therapeutic response to colchicine was dramatic in 7 children (one refused colchicine prophylaxis). CONCLUSION: Episodic fever alone without serositis is a presenting feature of FMF. In patients from Mediterranean ancestors and/or the presence of family history of FMF, a therapeutic diagnostic test with colchicine could be rewarding.