Background Although pulmonary involvement is important orbidity in Gaucher disease (GD), it is previously reported to be rare. Moreover, no epidemiological studies described its prevalence specifically in children. The clinical spectrum and risk determinants for this complication and its long‐term response to therapy are unknown. Aim To assess the prevalence of clinical and radiological pulmonary involvement in pediatric GD patients and its relation to Gaucher severity and genotype. Methods Forty‐eight GD patients were studied focusing on pulmonary and neurological manifestations with assessment of severity scoring index (SSI; a Gaucher specific scale). Detailed enzyme replacement therapy (ERT) history was taken regarding dose, duration, and effect on pulmonary manifestations. Genotype was performed to 30 patients. Radiological investigations included plain chest‐radiography (CXR), high‐resolution CT (HRCT), and hepatic and splenic volumes. Results Fifteen patients had type 1 (31.2%) and 33 patients had type 3 GD (68.8%). The most common mutation was L483P detected in 25 patients (83.3%). Sixteen patients had recurrent chest wheeze (33%). CXR showed pulmonary findings in 17 patients (35.4%) while HRCT‐chest showed affection in 31 patients (64.6%). The ground‐glass pattern was present in 14 patients (29.1%), reticulonodular infiltration in 9 patients (18.8%), air trapping in 6 patients (12.5%), and bronchiectatic changes in two patients (4.2%). Univariate logistic regression analysis for predictors of abnormal HRCT‐chest was negatively correlated with platelets (P = .01) and hemoglobin (P = .018) and positively correlated with recurrent chest wheezing (P = .019), abnormal CXR (P = .007), and SSI (P = .009). Conclusion Pulmonary involvement is a prevalent morbidity of GD with variable presentations. CXR for early detection of pulmonary involvement in GD is safe and highly predictive.
BackgroundCardiac magnetic resonance (CMR) is an extremely accurate and useful modality that can give much data about myocardial damage after acute myocardial infarction and consequently can give a good idea about long-term prognosis. Unfortunately, this modality is still underused in Egypt. We tried to assess the prognostic significance of different parameters derived from CMR in Egyptian patients presenting with ST-elevation myocardial infarction (STEMI) treated by primary percutaneous intervention (PPCI). Twenty-five patients who presented with acute STEMI and were successfully reperfused by PPCI within 12 h from symptoms onset were included. CMR was performed 2–4 days after PPCI. Six months of long-term follow-up for major adverse cardiovascular events (re-infarction, new-onset heart failure and cardiac death) was done. CMR-derived parameters (edema volume, area at risk, infarction volume, infarction percentage, microvascular obstruction volume, microvascular obstruction percentage, myocardial salvage and myocardial salvage index) were analyzed in relation to incidence of major adverse cardiovascular events (MACE).ResultsSeven patients suffered from MACE. Univariate logistic regression analysis showed a significant correlation between edema volume (P = 0.04), area at risk (P = 0.05), infarction percentage (P = 0.05) and the occurrence of MACE. Multivariate logistic regression analysis showed that infarction percentage (P = 0.05) is the best parameter that can predict MACE.ConclusionInfarction percentage is potentially the most important prognosticator derived from CMR in Egyptian patients with acute STEMI successfully reperfused by PPCI.
Background Little is known about changes in the pancreas as the course of type 1 diabetes progresses. Recently, shear wave elastography (SWE) emerged as a tool for assessing pancreatic stiffness in chronic pancreatitis and pancreatic cancer with a few studies assessing it in diabetes. Objective To compare pancreatic SWE in children with recent-onset and long-standing type 1 diabetes to healthy controls and to correlate it with diabetes duration, glycated hemoglobin (HbA1C), functional B cell reserve (fasting C-peptide) and diabetic complications. Materials and methods Fifty children with type 1 diabetes (25 with recent-onset and 25 with long-standing type 1 diabetes) and 50 controls were enrolled. Diabetes duration, insulin therapy, fundoscopic examination of the eyes and the neuropathy disability score were assessed. Fasting C-peptide, lipids, HbA1C and urinary albumin-creatinine ratio were measured. Pancreatic SWE was measured using the General Electric Logiq P9 ultrasound system. Results The mean SWE of the studied children with recent-onset type 1 diabetes was 4.81±0.62 kilopascals (Kpa), those with long-standing type 1 diabetes was 7.10±1.56Kpa and for controls was 5.57±0.27 Kpa (P<0.001). SWE was positively correlated to diabetes duration (P<0.001) and negatively correlated to fasting C-peptide (P<0.001). Regarding diabetes complications, SWE was positively correlated to frequency of severe hypoglycemia (P=0.005), HbA1C (P=0.03), low-density lipoproteins (P<0.001) and cholesterol (P<0.001) and significantly related to diabetic neuropathy (P=0.04) and nephropathy (P=0.05). Diabetes duration, fasting C-peptide, HbA1C and frequency of severe hypoglycemia were the significant independent variables related to SWE increase by multivariable regression analysis. Conclusion Pancreatic SWE changes significantly with duration of type 1 diabetes, being lowest in those with recent-onset type 1 diabetes and highest in those with long-standing type 1 diabetes, particularly those with diabetic nephropathy and neuropathy.
Background Nodular goiter is the most frequent disease of the thyroid gland, it may affect up to 50% of adults and elderly people, Although malignancy only occurs in about 5% of thyroid nodules, the detection rate of papillary thyroid carcinoma has increased consistently both in women and men and in all ethnic groups Thus, the task of differentiating malignant from benign nodules is necessary. Ultrasound elastography (USE) is a non-invasive, completely painless for the patient and can be easily performed even during routine ultrasound examinations. It assesses lesion stiffness by evaluating tissue distortion in response to stress. Objective Study the role of strain elastography in the characterization of benign and malignant nature of the thyroid nodule Compare the sensitivity and specificity of ultrasound elastography (USE) and fineneedle aspiration cytology (FNAC) as preoperative predictor of malignancy in order to decrease the need for FNAC. Cytology report is the gold standard/ histopathology report if available. Patients and Methods Type of Study: Cross-sectional study. Study Setting: The study was conducted at Ain Shams University Hospitals. Patients: 32 patients, 16 benign, and 16 malignant Patients with thyroid nodules proven by FNAC referred to Ain Shams University Radiology Unit. Results After analysis of strain index (SI) and the elasto score with FNAC we found the cut of point for thyroid malignancy was >1.4 and >2 respectively. The sensitivity and specificity of strain index (SI) for thyroid malignancy diagnosis were 100% and 75%, respectively. The positive and negative predictive values were 80% and 100%, respectively its p-value was 0.000, being a highly significant test.The US-elastography score’s sensitivity and specificity for thyroid malignancy diagnosis both were 81.25%. The positive and negative predictive values both were 81.2%, its pvalue was 0.000, being a highly significant test. After the Postoperative histopathology which is done to only ten patients of the 32 patients with available results (31.3%), 4 of them were benign (12.5%), and six were malignant (18.8%), We conclude that the Elasto ratio is the most sensitive diagnostic test with NPP (negative predictive value) of 100 % being the best screening test while the FNAC is the most specific test with PPV(positive predictive value) of 100 % being the best diagnostic test while the elasto score’s p-value was 0.065, being a a non-significant test. Despite this good diagnostic performance, USE with SI assessment not yet meets all requirements for an optimal diagnostic tool as its specificity is only 75%, while that of FNAC is almost reaching 100% compared to the postoperative histopathology Conclusion Strain elastography was highlighted as a good tool for pre-operative differentiation of benign from malignant lesions showing high sensitivity and moderate specificity compared to other studies, thus further decreasing thyroid biopsies and surgeries. The most reliable tool in our study was the elasto ratio having the highest sensitivity. Ultrasound examination in combination with elastography is a well-tolerated, non-invasive, and cost-effective diagnostic tool in the pre-operative assessment of thyroid nodules, which is able to enhance the accuracy of assessing the risk of malignancy in thyroid nodules and for selecting nodules for FNAC, thus can be used to postpone the FNAC to decrease the amount of the unnecessary FNAC.
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