Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 16 de 16
Filter
1.
Acad Radiol ; 2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38839458

ABSTRACT

RATIONALE AND OBJECTIVES: This study aimed to evaluate the accuracy and reliability of educational patient pamphlets created by ChatGPT, a large language model, for common interventional radiology (IR) procedures. METHODS AND MATERIALS: Twenty frequently performed IR procedures were selected, and five users were tasked to independently request ChatGPT to generate educational patient pamphlets for each procedure using identical commands. Subsequently, two independent radiologists assessed the content, quality, and accuracy of the pamphlets. The review focused on identifying potential errors, inaccuracies, the consistency of pamphlets. RESULTS: In a thorough analysis of the education pamphlets, we identified shortcomings in 30% (30/100) of pamphlets, with a total of 34 specific inaccuracies, including missing information about sedation for the procedure (10/34), inaccuracies related to specific procedural-related complications (8/34). A key-word co-occurrence network showed consistent themes within each group of pamphlets, while a line-by-line comparison at the level of users and across different procedures showed statistically significant inconsistencies (P < 0.001). CONCLUSION: ChatGPT-generated education pamphlets demonstrated potential clinical relevance and fairly consistent terminology; however, the pamphlets were not entirely accurate and exhibited some shortcomings and inter-user structural variabilities. To ensure patient safety, future improvements and refinements in large language models are warranted, while maintaining human supervision and expert validation.

2.
Radiol Case Rep ; 17(6): 2006-2010, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35432668

ABSTRACT

Page kidney is a pathologic phenomenon in which extrinsic compression of renal parenchyma from a subcapsular collection causes secondary systemic hypertension, via activation of the renin-angiotensin-aldosterone system. Following the first description of Page kidney, the condition was most often recognized following blunt trauma to the flank. Increasingly, non-traumatic and iatrogenic etiologies of Page kidney have been described. We present a case of Page kidney as a complication of image-guided native renal parenchymal core needle biopsy. The current literature on etiologies, pathophysiology, and treatment options for Page kidney are summarized.

3.
Clin Imaging ; 65: 138-142, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32485598

ABSTRACT

OBJECTIVE: Radiologists comprise approximately 3.6% of US physicians while ranked 6th-8th in medicolegal claims. Studies suggest that by the age of 60, about half of all radiologists will be sued at least once. Given this likelihood, it is surprising how little attention is paid to teaching of medicolegal issues. It is hypothesized that most trainees emerge from residency with only a vague notion of the medicolegal issues inherent in radiology. METHODS: All of the radiology attendings, trainees and alumni in our tertiary care teaching hospital were surveyed via an electronic questionnaire. Respondents were surveyed on overall knowledge of job-related medicolegal issues and willingness to receive additional education. The survey also included two real life medicolegal scenarios and the radiologists were asked to choose the most likely outcome. RESULTS: A questionnaire was sent to total of 359 trainees, attendings and alumni. There were 168 responses, constituting a 46.7% response rate, F:M 48:112. Only 41% of the respondents were aware that by the age of 60, half of them would be involved in at least one lawsuit. All knew the most common causes of malpractice claims; however, one-fourth were not aware of available medicolegal resources offered by radiological organizations; 85% of the respondents expressed willingness to attend medicolegal CME courses. All residents surveyed believed that medicolegal lectures should be included in their didactics. CONCLUSION: There is a dearth of knowledge among radiologists on job-related medicolegal topics. This survey suggests that incorporating additional medicolegal topics into the non-interpretive skills curriculum of residents and medicolegal CME for graduates would be well received.


Subject(s)
Radiology/education , Curriculum , Humans , Internship and Residency , Liability, Legal , Physicians , Radiography , Radiologists , Radiology/legislation & jurisprudence , Surveys and Questionnaires
4.
J Clin Imaging Sci ; 10: 9, 2020.
Article in English | MEDLINE | ID: mdl-32257585

ABSTRACT

OBJECTIVE: The objective of the study was to evaluate the safety and efficacy of percutaneous cholecystostomy (PC) in treating critically ill patients with emphysematous cholecystitis who were deemed poor surgical candidates. MATERIALS AND METHODS: The Institutional Review Board exemption was obtained for this retrospective study. Patients with emphysematous cholecystitis who were deemed to be poor operative candidates by the treating surgeon and underwent PC placement between May 2008 and April 2017 at a single institution were identified through a medical records search. Demographics, laboratory values, imaging data, procedural technique, complications, hospitalization course, clinical outcome, and survival data were obtained. RESULTS: Ten consecutive patients were included, with a mean age of 75.0 ± 12.2 years, including six men and four women. The most common comorbidity was diabetes (60%, 6/10) followed by hypertension (40%, 4/10). Intraluminal or intramural gas as well as gallbladder wall thickening were noted in all patients. Procedure technical success rate was 100%. There was a complete resolution of symptoms in 90% (9/10) of patients at a mean of 2.9 ± 1.4 days post-procedure. Thirty-day survival rate was 90% (9/10); one patient died on the 6th post- procedure day from sepsis. Two more deaths occurred within a year after PC from unrelated causes. About 50% (5/10) of patients underwent elective cholecystectomy at a median interval of 69 days post-procedure. In 40% (4/10) of patients, cholecystostomy was the definitive treatment, with tube removal at a median of 140 days post- procedure. CONCLUSION: PC appears to be a safe and generally effective alternative management option in patients with emphysematous cholecystitis that is considered very high risk for surgery.

5.
J Am Coll Radiol ; 17(8): 1014-1024, 2020 Aug.
Article in English | MEDLINE | ID: mdl-31954708

ABSTRACT

PURPOSE: To assess impact of electronic medical record-embedded radiologist-driven change-order request on outpatient CT and MRI examinations. METHODS: Outpatient CT and MRI requests where an order change was requested by the protocoling radiologist in our tertiary care center, from April 11, 2017, to January 3, 2018, were analyzed. Percentage and categorization of requested order change, provider acceptance of requested change, patient and provider demographics, estimated radiation exposure reduction, and cost were analyzed. P < .05 was used for statistical significance. RESULTS: In 79,310 outpatient studies in which radiologists determined protocol, change-order requests were higher for MRI (5.2%, 1,283 of 24,553) compared with CT (2.9%, 1,585 of 54,757; P < .001). Provider approval of requested change was equivalent for CT (82%, 1,299 of 1,585) and MRI (82%, 1,052 of 1,283). Change requests driven by improper contrast media utilization were most common and different between CT (76%, 992 of 1,299) and MRI (65%, 688 of 1,052; P < .001). Changing without and with intravenous contrast orders to with contrast only was most common for CT (39%, 505 of 1,299) and with and without intravenous contrast to without contrast only was most common for MRI (26%, 274 of 1,052; P < .001). Of approved changes in CT, 51% (661 of 1,299) resulted in lower radiation exposure. Approved changes frequently resulted in less costly examinations (CT 67% [799 of 1,198], MRI 48% [411 of 863]). CONCLUSION: Outpatient CT and MRI orders are deemed incorrect in 2.9% to 5% of cases. Radiologist-driven change-order request for CT and MRI are well accepted by ordering providers and decrease radiation exposure associated with imaging.


Subject(s)
Magnetic Resonance Imaging , Outpatients , Humans , Physical Examination , Radiologists , Tomography, X-Ray Computed
6.
Radiographics ; 39(5): 1501-1523, 2019.
Article in English | MEDLINE | ID: mdl-31398088

ABSTRACT

Doppler US is an essential component of nearly all diagnostic US procedures. In this era of increased awareness of the effects of ionizing radiation and the side effects of iodine- and gadolinium-based contrast agents, Doppler US is poised to play an even bigger role in medical imaging. It is safe, cost-effective, portable, and highly accurate when performed by an experienced operator. The sensitivities and specificities of Doppler US for detecting blood flow and determining the direction and velocity of blood flow in various organs and vascular systems have increased dramatically in the past decade. With use of advanced flow techniques that are available for use with most modern equipment, US can provide vascular information that is comparable to or even more accurate than that obtained with other cross-sectional and interventional modalities. However, there remains concern that US (including newer more advanced flow-evaluating techniques) will not be used to its full potential owing to dependence on operator skill and expertise. Thorough understanding of image optimization techniques and expanded knowledge of the physical principles, instrumentation, application, advantages, and limitations of this modality are of utmost importance. The authors provide a simple practical guide for optimizing images for vascular flow detection by reviewing various cases and focusing on the parameters that should be optimized. Online supplemental material is available for this article. ©RSNA, 2019 See discussion on this article by Pellerito.


Subject(s)
Blood Flow Velocity , Image Enhancement/methods , Ultrasonography, Doppler , Hemorheology , Humans
7.
Acta Radiol ; 59(9): 1074-1081, 2018 Sep.
Article in English | MEDLINE | ID: mdl-29378421

ABSTRACT

Background Non-invasive monitoring of autologous vein graft (VG) bypass grafts is largely limited to detecting late luminal narrowing. Although magnetic resonance imaging (MRI) delineates vein graft intima, media, and adventitia, which may detect early failure, the scan time required to achieve sufficient resolution is at present impractical. Purpose To study VG visualization enhancement in vivo and delineate whether a covalently attached MRI contrast agent would enable quicker longitudinal imaging of the VG wall. Material and Methods Sixteen 12-week-old male C57BL/6J mice underwent carotid interposition vein grafting. The inferior vena cava of nine donor mice was treated with a gadolinium-diethylenetriaminepentaacetic acid (Gd-DTPA)-based contrast agent, with control VGs labeled with a vehicle. T1-weighted (T1W) MRI was performed serially at postoperative weeks 1, 4, 12, and 20. A portion of animals was sacrificed for histopathology following each imaging time point. Results MRI signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were significantly higher for treated VGs in the first three time points (1.73 × higher SNR, P = 0.0006, and 5.83 × higher CNR at the first time point, P = 0.0006). However, MRI signal enhancement decreased consistently in the study period, to 1.29 × higher SNR and 2.64 × higher CNR, by the final time point. There were no apparent differences in graft morphometric analyses in Masson's trichrome-stained sections. Conclusion A MRI contrast agent that binds covalently to the VG wall provides significant increase in T1W MRI signal with no observed adverse effects in a mouse model. Further optimization of the contrast agent to enhance its durability is required.


Subject(s)
Blood Vessel Prosthesis Implantation/methods , Carotid Arteries/surgery , Contrast Media/pharmacology , Gadolinium DTPA/pharmacology , Vena Cava, Inferior/transplantation , Animals , Disease Models, Animal , Magnetic Resonance Imaging/methods , Male , Mice , Mice, Inbred C57BL , Signal-To-Noise Ratio
8.
Jpn J Radiol ; 34(2): 140-7, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26670593

ABSTRACT

PURPOSE: To evaluate the role of coronary artery calcium scoring (CACS) and/or coronary CT angiography (CCTA) in asymptomatic elderly patients with high pretest probability for coronary artery disease (CAD). MATERIALS AND METHODS: Forty-eight consecutive asymptomatic elderly (>65 years) subjects who had a high pretest probability and underwent CACS/CCTA were included. Each CCTA was evaluated for adequacy for assessment of coronary stenosis. Significant stenosis (>50% diameter narrowing) was assessed on evaluable CT images and by invasive catheter angiography (ICA). RESULTS: All subjects were men with mean CACS of 880 ± 1779. Among those with low (0-99), intermediate (100-399), and high (400-999) CACS, ICA-verified significant stenosis was present in 8% (1/13), 23% (2/13), and 67% (8/12), respectively. Among those with very high CACS (≥ 1000) (n = 10), 90% of CCTAs were not evaluable for stenosis. CONCLUSION: In asymptomatic elderly subjects with high pretest probability, CACS followed by CCTA may be considered for those with intermediate to high CACS.


Subject(s)
Calcinosis/diagnostic imaging , Computed Tomography Angiography , Coronary Angiography , Coronary Artery Disease/diagnostic imaging , Aged , Female , Humans , Male , Radiographic Image Interpretation, Computer-Assisted
9.
J Cardiovasc Comput Tomogr ; 10(2): 179-83, 2016.
Article in English | MEDLINE | ID: mdl-26714669

ABSTRACT

BACKGROUND: If undetected, infrarenal Abdominal Aortic Aneurysm (AAA) growth can lead to rupture, a high-mortality complication. Some AAA patients exhibit inhomogeneous luminal contrast attenuation at first-pass CT angiography (CTA). This study assesses the association between this observation and aneurysm growth. METHODS: Sixty-seven consecutive pre-repair AAA CTAs were included in this retrospective study. The "Gravitational Gradient" (GG), defined as the ratio of the mean attenuation in a region-of-interest placed posteriorly to that in a region-of-interest placed anteriorly within the lumen of the aortic aneurysm on a single axial slice, and the maximum aneurysm diameter were measured from each CT data set. "AAA Contrast Inhomogeneity" was defined as the absolute value of the difference between the GG and 1.0. Univariate and multivariate logistic regression was used to assess the association of aneurysm growth >0.4 and >1.0 cm/year to AAA Contrast Inhomogeneity, aneurysm diameter, patient characteristics and cardiovascular co-morbidities. RESULTS: AAA Contrast Inhomogeneity was not correlated to aneurysm diameter (p = 0.325). In multivariable analysis that included initial aneurysm diameter and AAA Contrast Inhomogeneity, both factors were significantly associated with rapid aneurysm growth (initial diameter: p = 0.029 and 0.011, and, AAA Contrast Inhomogeneity: p = 0.045 and 0.048 for growth >0.4 cm/year and >1 cm/year respectively). CONCLUSIONS: AAA Contrast Inhomogeneity is a common observation in first-pass CTA. It is associated with rapid aneurysm growth, independent of aneurysm diameter.


Subject(s)
Aorta, Abdominal/diagnostic imaging , Aortic Aneurysm, Abdominal/diagnostic imaging , Aortography/methods , Computed Tomography Angiography , Multidetector Computed Tomography , Aged , Aged, 80 and over , Disease Progression , Female , Humans , Logistic Models , Male , Middle Aged , Multivariate Analysis , Predictive Value of Tests , Radiographic Image Interpretation, Computer-Assisted , Retrospective Studies , Risk Factors
10.
Radiographics ; 35(7): 1965-88, 2015.
Article in English | MEDLINE | ID: mdl-26562233

ABSTRACT

While use of advanced visualization in radiology is instrumental in diagnosis and communication with referring clinicians, there is an unmet need to render Digital Imaging and Communications in Medicine (DICOM) images as three-dimensional (3D) printed models capable of providing both tactile feedback and tangible depth information about anatomic and pathologic states. Three-dimensional printed models, already entrenched in the nonmedical sciences, are rapidly being embraced in medicine as well as in the lay community. Incorporating 3D printing from images generated and interpreted by radiologists presents particular challenges, including training, materials and equipment, and guidelines. The overall costs of a 3D printing laboratory must be balanced by the clinical benefits. It is expected that the number of 3D-printed models generated from DICOM images for planning interventions and fabricating implants will grow exponentially. Radiologists should at a minimum be familiar with 3D printing as it relates to their field, including types of 3D printing technologies and materials used to create 3D-printed anatomic models, published applications of models to date, and clinical benefits in radiology. Online supplemental material is available for this article.


Subject(s)
Models, Anatomic , Printing, Three-Dimensional , Radiology/methods , Audiovisual Aids , Humans , Phantoms, Imaging , Printing, Three-Dimensional/economics , Printing, Three-Dimensional/instrumentation , Printing, Three-Dimensional/trends , Prosthesis Design , Resins, Synthetic , Rheology , Software , Surgery, Computer-Assisted , Tissue Engineering/methods , Tomography, X-Ray Computed
11.
Plast Reconstr Surg ; 136(5): 1082-1089, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26505709

ABSTRACT

BACKGROUND: Chronic rejection leading to allograft loss remains a significant concern after facial allotransplantation. Chronic rejection may occur without clinical signs or symptoms. The current means of monitoring is histologic analyses of allograft biopsy specimens, which is both invasive and impractical. Prior data suggest that chronic rejection is associated with changes in intima and media thickness of vessels in arms and solid organ allografts; such data have not been published for face transplant recipients. METHODS: The authors used a 48-MHz transducer to acquire images of the bilateral facial, radial, dorsalis pedis and, if applicable, sentinel flap arteries in five face transplant recipients (8 months to 4.5 years after transplantation) and five control subjects. The authors assessed the intima, media, and adventitia thickness plus lumen and the total vessel diameter and area. RESULTS: Face transplant recipients had thicker intima in all sites compared with controls, but the ratio of the intimal thickness of facial and radial arteries was similar in face transplant recipients compared with controls (1.00 versus 0.95; p = 0.742). Intraobserver correlation showed reliable reproducibility of the measurements (r = 0.935, p ≤ 0.001). Interobserver correlation demonstrated reproducibility of intima measurements (r = 0.422, p ≤ 0.001). CONCLUSION: The authors demonstrate that ultrasound biomicroscopy is feasible for postsurgical monitoring, and have developed a new benchmark parameter, the facial artery-to-radial artery intimal thickness ratio, to be used in future testing in the setting of chronic rejection. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, IV.


Subject(s)
Facial Transplantation/adverse effects , Graft Rejection/immunology , Monitoring, Immunologic/methods , Transplant Recipients , Transplantation Immunology/physiology , Allografts , Facial Transplantation/methods , Female , Follow-Up Studies , Humans , Male , Monitoring, Physiologic/methods , Observer Variation , Time Factors , Tomography, X-Ray Computed/methods , Tunica Intima/pathology , Ultrasonography, Doppler
12.
Acad Radiol ; 22(12): 1555-61, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26391859

ABSTRACT

RATIONALE AND OBJECTIVES: The purpose was to evaluate clinical characteristics associated with low confidence in diagnosis of acute pulmonary embolism (PE) as expressed in computed tomography pulmonary angiography (CTPA) reports and to evaluate the effect of confidence level in PE diagnosis on patient clinical outcomes. MATERIALS AND METHODS: This study included radiology reports from 1664 consecutive CTPA considered positive for acute PE (8/2003-5/2010). All reports were retrospectively assessed for the level of confidence in diagnosis. Baseline characteristics and outcomes (therapies related to PE and short-term mortality) were compared between high and low confidence groups. Multivariable logistic and Cox regression analyses were used to analyze the relationship between the confidence level and outcomes. RESULTS: One-hundred sixty of 1664 (9.6%) reports had language that reflected a low confidence in PE diagnosis. The low confidence group had smaller (segmental and subsegmental) suspected emboli (prevalence, 72.5% vs. 50.7%; P < .001) and more comorbidities. The low confidence group had a lower likelihood of receiving PE-related therapies (adjusted odds ratio [OR], 0.18; 95% confidence interval, 0.10-031, P < .001), but there was no change in the all-cause and PE-related 30-day and/or 90-day mortality (OR of death for low confidence, 0.81-1.13, P values > .5). CONCLUSIONS: Roughly 10% of positive CTPA reports had uncertainty in PE findings, and patients with reports categorized as low confidence had smaller emboli and more comorbidities. Although the low confidence group was less likely to receive PE-related therapies, patients in this group were not associated with higher probability of short-term mortality.


Subject(s)
Angiography/methods , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/mortality , Tomography, X-Ray Computed , Uncertainty , Acute Disease , Adult , Aged , Comorbidity , Female , Humans , Male , Middle Aged , Prevalence , Pulmonary Embolism/therapy , Retrospective Studies
13.
Iran J Allergy Asthma Immunol ; 12(2): 176-81, 2013 May 15.
Article in English | MEDLINE | ID: mdl-23754357

ABSTRACT

Primary immunodeficiency diseases (PID) consist of a group of long-term illnesses which had permanent psychiatric effects on the patients and their parents. This study was designed to find out the most important origins and aspects of stressor in parents of PID patients.To assess the impact of psychiatric aspects in parents of PID patients, a valid and reliable questionnaire was compiled based on patients' complaints and consulting professionals in PID and psychology.Fathers of 26 PID patients (17 male and 9 female) were enrolled in this study. According to the result of this study, anxiety for long duration of disease of child (mean score= 4.42), anxiety for incurable diseases of child (mean score=4.23) and anxiety for side effects and complication of treatments on child (mean score=4.08) were the most important stressors of parents.The comparison between specific PID groups showed that there were significant differences between total score of groups (XLA= 92.8±31.2, CVID=78.7±19.5 and other types of PID= 90.7±22.5, p-value =0.37).Survey for finding fundamental stressors and continuation of psychological counseling are necessary to achieve successful management of PID patients and their parents.


Subject(s)
Caregivers/psychology , Immunologic Deficiency Syndromes/psychology , Parents/psychology , Adolescent , Child , Child, Preschool , Female , Humans , Male , Surveys and Questionnaires
14.
Viral Immunol ; 25(2): 161-5, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22413915

ABSTRACT

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders with varied immunologic phenotypes and clinical manifestations. Patients with CVID are mainly characterized by decreased serum immunoglobulin levels, and increased susceptibility to recurrent bacterial infections, autoimmune disorders, and malignancies. Here we present a CVID patient who has developed a clinical polyclonal lymphocytic infiltration phenotype associated with severe and irreversible pancytopenia with unknown etiology. Progressive unilateral loss of vision and cytomegalovirus retinitis indicated the cause of patient's pancytopenia.


Subject(s)
Common Variable Immunodeficiency/complications , Cytomegalovirus Retinitis/complications , Macrophage Activation Syndrome/complications , Child , Child, Preschool , Common Variable Immunodeficiency/immunology , Common Variable Immunodeficiency/pathology , Cytomegalovirus Retinitis/immunology , Cytomegalovirus Retinitis/pathology , Humans , Infant , Infant, Newborn , Macrophage Activation Syndrome/immunology , Macrophage Activation Syndrome/pathology , Male
15.
Iran J Allergy Asthma Immunol ; 10(1): 47-51, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21358015

ABSTRACT

Patients with primary antibody deficiencies (PAD) are susceptible to recurrent and chronic infections and a variety of complications. This study was performed to assess quality of life (QoL) of PAD patients who were under long term treatment and regular follow-up.Thirty six adults with proved diagnosis of PAD, who had received regular intravenous immunoglobulin replacement therapy, were enrolled in this study. The QoL of selected PAD patients was measured by Medical Outcomes Study 36-item Short-Form (SF-36) Health Survey questionnaire.The patients with PAD showed significantly reduced scores in physical component in comparison with healthy age-sex matched control subjects (60.2±20.1 vs. 85.5±4.7, P<0.001). Mental component score was also significantly decreased in the patient's group (59.8±19.5 vs. 72.3±3.4, P=0.002). There was a reverse association between SF-36 scores and number of infections episodes (r=-0.73 P=0.003). The patients with long delay diagnosis showed significantly lower SF-36 scores (r=-0.62, P=0.003).The patients with PAD who were diagnosed timely and managed appropriately seem to have lower complications and better QoL. However, the patients with severe phenotypes and long delay in diagnosis showed lower QoL, even in medical management.


Subject(s)
Immunoglobulins, Intravenous/therapeutic use , Immunologic Deficiency Syndromes/therapy , Immunologic Factors/therapeutic use , Quality of Life , Adolescent , Adult , Case-Control Studies , Communicable Diseases/etiology , Communicable Diseases/psychology , Delayed Diagnosis , Female , Humans , Immunologic Deficiency Syndromes/complications , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/psychology , Iran , Male , Middle Aged , Phenotype , Recurrence , Surveys and Questionnaires , Time Factors , Treatment Outcome , Young Adult
16.
J Clin Immunol ; 29(6): 769-76, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19575287

ABSTRACT

BACKGROUND: Hyper-immunoglobulin M (HIGM) syndromes are a heterogeneous group of primary immunodeficiency disorders, characterized by recurrent infections associated with decreased serum levels of immunoglobulin G (IgG) and IgA and normal to increased serum levels of IgM. These patients have immunoglobulin class switch recombination defects, caused by mutations in several genes. METHODS: In order to investigate clinical and immunological manifestations of HIGM in Iran, 23 Iranian patients with an age range of 5 months to 35 years, who were followed up over a period of 17 years, were studied. Fourteen of the 23 patients were screened for CD40L, AICDA, UNG, and CD40 gene mutations, using polymerase chain reaction followed by direct sequencing. RESULTS: All patients, except one, initially presented with infectious diseases; the most common manifestations were respiratory tract infections. Six different CD40L mutations were identified, five were novel, one splicing (IVS1+2T>C), three missense (T254M, G167R, L161P), and two frame shift deletions (T29fsX36 and D62fsX79). In addition, one novel AICDA mutation (E122X) was detected. No mutation was found in six out of 14 analyzed patients. CONCLUSION: CD40L mutations comprise the most common type of immunoglobulin class switch recombination defects. There are several patients with HIGM phenotype, in which the underlying genetic defects remain to be identified. Other defects such as those in components of the mismatch repair mechanism could be potential candidates for the latter.


Subject(s)
CD40 Ligand/genetics , Cytidine Deaminase/genetics , Hyper-IgM Immunodeficiency Syndrome/genetics , Mutation , Adolescent , Adult , CD40 Antigens/genetics , Child , Child, Preschool , DNA Mutational Analysis , Humans , Infant , Infections , Iran , Uracil-DNA Glycosidase/genetics , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...