We have updated the dataset of the molecular spectrum of the β-thalassemia (β-thal) in Upper
Egypt. Buccal swabs were analyzed from 94 unrelated patients with β-thal major (β-TM) using
reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction
(ARMS-PCR). The most frequent mutation was IVS-I-110 (G>A) (57%). The IVS-I-110, IVS-I-6
(T>C) and IVS-I-1 (G>A) mutations accounted for 87% of the β-thal anomalies. The codon 39
(C>T) and frameshift codon (FSC) 6 (–A) (GAG>–GG) mutations were only detected in Al-Minya
and Qina, respectively. We did not observe the IVS-II-745 (C>G) or –101 (C>T) mutations. Fortythree
percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete
the mutation map of β-thal in Egypt restricted to Cairo and the Nile Delta regions. This study will
help to develop preventative programs for Upper Egyptians. It addressed the genetic drift of the β-thal
gene mutations in Africa, Asia, and Europe.

Background: Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many inborn errors of metabolism are amenable to treatment with early diagnoses. Till now, more than 500 metabolic disorders have been detected. Although individual metabolic disorders are rare, the incidence of overall metabolic disorders is high. Results: It was found that 70/200 cases (35 %) had confirmed inborn errors of metabolism, and another 8 cases (4%) suspected to have inborn errors of metabolism; 15/200 (7.5%) cases had mild elevation of phenylalanine level, while 107/200 (53.5%) had another diagnosis rather than metabolic disorders. Urea cycle defect was diagnosed in 20/70 (28.5%), maple syrup urine disease in 18/70 (25.7%), organic acidemia in 15/70 (21.4%), and non-ketotic hyperglycinemia in 1/70 (1.4 %) case. Also, 15/70 (21.4 %) cases had fatty acid oxidation defect. Lastly, one female case (1.4 %) was diagnosed to have disorder of pyrimidine deficiency. Conclusion: Diagnosis of inborn errors of metabolism was confirmed in 35% of neonates, and 4% was suspected to have metabolic disorders. These results showed that inherited metabolic disorders are not rare. The development of a nationwide screening program for metabolic disorders is mandatory for early detection of these potentially treatable disorders. Keywords: Neonatal screening, Inborn errors of metabolism (IEM), Metabolic disorders, Aminoacidopathies, Fatty acid oxidation defects, Tandem mass spectrometry.

Background: Our study aimed to evaluate the clinical utility of detecting plasma
microRNAs (miR-21 & miR-92a) for diagnosis of colorectal cancer patients and its
relation to tumor staging. Patients and Methods: Quantitative real-time RT-PCR was
applied to determine the relative expression level of miR-21 and miR-92a in serum.
The sensitivity and specificity of these markers were evaluated by receiver operating
characteristic (ROC) curve analysis. Final staging of colorectal cancer cases was
assigned according to results of histopathologic examination of surgically resected
specimens. Results: This study included 52 cases of colorectal cancer (CRC), 20 cases
of precancerous colorectal lesions, and 20 healthy controls. Both Plasma miR-21 and
Plasma miR-92a were significantly higher in CRC group compared to both the control
group and precancerous group. Also, they were significantly higher in advanced CRC
stages than early CRC stages. The sensitivity and specificity of miR-21 for
discriminating CRC from controls were found to be 90.38% and 100.0%, respectively.
However, for miR-92a, sensitivity and specificity were found to be 94.23% and
100.0%, respectively. For discriminating CRC cases from precancerous lesions, the
sensitivity and specificity of miR-21 were found to be 75.08% and 95.0%,
respectively. However, for miR-92a, sensitivity and specificity were found to be
80.77% and 100.0%, respectively. Conclusions: both plasma miR-21 and miR-92a
have significant value for early detection of CRC as non-invasive screening molecular
biomarkers with high sensitivity and specificity. They also help for differentiation
between patients with benign and malignant colorectal lesions and those with early
and advanced CRC.

Background

The Radiological Society of North America (RSNA) recently published a chest CT classification system and Dutch Association for Radiology has announced Coronavirus disease 2019 (COVID-19) reporting and data system (CO-RADS) to provide guidelines to radiologists who interpret chest CT images of patients with suspected COVID-19 pneumonia. This study aimed to compare CO-RADS and RSNA classification with respect to their sensitivity and reliability for diagnosis of COVID-19 pneumonia.

Results

A retrospective study assessed consecutive CT chest imaging of 359 COVID-19-positive patients. Three experienced radiologists who were aware of the final diagnosis of all patients, independently categorized each patient according to CO-RADS and RSNA classification. RT-PCR test performed within one week of chest CT scan was used as a reference standard for calculating sensitivity of each system. Kappa statistics and intraclass correlation coefficient were used to assess reliability of each system. The study group included 359 patients (180 men, 179 women; mean age, 45 ± 16.9 years). Considering combination of CO-RADS 3, 4 and 5 and combination of typical and indeterminate RSNA categories as positive predictors for COVID-19 diagnosis, the overall sensitivity was the same for both classification systems (72.7%). Applying both systems in moderate and severe/critically ill patients resulted in a significant increase in sensitivity (94.7% and 97.8%, respectively). The overall inter-reviewer agreement was excellent for CO-RADS (κ = 0.801), and good for RSNA classification (κ = 0.781).

Conclusion

CO-RADS and RSNA chest CT classification systems are comparable in diagnosis of COVID-19 pneumonia with similar sensitivity and reliability.

Background

A major role of CT in COVID-19 pneumonia is to assess disease severity and progress. In this study, we aimed to assess the validity, reliability, and survival outcomes of simple chest computed tomography (CT) score in the evaluation of the severity of lung involvement in coronavirus disease 2019 (COVID-19) compared with the current chest CT score.

Results

This retrospective analysis included 213 patients (121 men and 92 women; mean age, 46 ± 15.6 years; range, 1–85 years). The ROC curve was used to compare the validity of both scores. Interreader agreement (IRA) for both scores was calculated using Cohen’s kappa statistic. The survival analysis of both scores was investigated using the Kaplan–Meier survival analysis. The simple score showed a comparable validity with the current score (AUC = 0.89 and 0.90, respectively; p = 0.61). The ROC analysis demonstrated that a simple score of > 3 and a current score of > 12 were potential predictors of death with sensitivity values of 81.8% and 86.4% and specificity values of 96.3% and 93.7%, respectively. The simple score showed a higher IRA compared with the current score (κ = 0.645 and 0.458, respectively). Both scores were comparable for predicting survival outcomes.

Conclusion

The simple score was non-inferior for predicting survival outcome, compared with the current chest CT score. Furthermore, we suggest that the simple score should be used as it is simpler and more consistent.

Background

In the last decade, flow diverter (FD) devices are one of the widely used endovascular methods in the treatment of intracranial aneurysms. As the frequency of its use is increasing progressively, we thought that studies concerned with the use of FD at specific locations are helpful to clarify the efficacy and safety of FD as a treatment option in cerebral aneurysms. We represent our experiences in the treatment of posterior communicating artery (PCOM) aneurysms by FD devices aiming to assess its angiographic efficacy (complete aneurysm occlusion) and its related complications. This is a retrospective study of 47 patients harboring 47 PCOM aneurysms treated with Pipeline Embolization Device (PED). Acutely ruptured and non-saccular aneurysms were excluded from the study. Short- and mid-term radiological and clinical outcomes were analyzed.

Results

Procedure-related complications were observed in five patients (two ischemic events, two transient ischemic attacks (TIA), and one ipsilateral distal hemorrhage) with no procedure-related mortality. Complete aneurysm occlusion was encountered in 87.2%. In multivariable analysis, large-sized aneurysm and incorporated vessels were an independent predictor of non-occlusion (P = 0.026 and P = 0.035 respectively). A favorable clinical outcome (modified Rankin Scale, 0–2) was observed in 45/47 patients (95.7%); the incidence of postoperative complications was an independent predictor of unfavorable clinical outcomes (P = 0.048).

Conclusion

PED stent provides a high occlusion rate in the treatment of PCOM aneurysms with good post-treatment clinical outcomes.

Background

This study aimed to investigate the chest computed tomography (CT) characteristics and laboratory findings in patients with confirmed COVID-19 pneumonia and to evaluate their relationship with clinical outcome.

This retrospective study assessed 164 consecutive CT chests of COVID-19 patients during April 2020. The chest CT and laboratory data were analyzed. The primary endpoint was patient survival either died or survived. The relationship between CT and laboratory findings was correlated to patient outcome.

Results

The study group included 164 patients (86 male, 78 women; average age, 44.3 ± 16.5 years) whose RT-PCR were positive for COVID-19. Only 120 (73.2%) patients had pulmonary manifestations. Ground glass opacities of peripheral distribution and multifocal affection were the major CT finding in COVID-19 patients. Univariate analysis revealed that CT severity score, D-dimer level, age, total leucocytic count, and absolute lymphocytic count were predictive for death.

Conclusion

CT has an emerging role in the diagnosis of COVID-19 pneumonia and in assessing disease severity. CT severity score, D-dimer, total leucocytic count, and absolute lymphocytic count significantly predict patient survival.

Background

Brachial plexus injury occurs following birth trauma or adult trauma as well, surgical repair is important to regain upper limb function, and preoperative evaluation with MRI is important and considered the accurate and safe imaging modality.

Thirty-seven patients with clinically suspected obstetric (15 patients) or adult traumatic (22 patients) brachial plexus injury were included in our study; all of them underwent MRI examination including T1WI, T2WI, STIR, DWIBS, 3D STIR SPACE, and MR myelography sequences.

Results

In obstetric cases, MRI sensitivity, specificity, and accuracy for preganglionic injury were 63%, 89%, and 82%, respectively, while for postganglionic lesions, MRI sensitivity, specificity, and accuracy were 60%, 99%, and 95%, respectively. In adult cases, MRI sensitivity, specificity, and accuracy for preganglionic injury were 96%, 95%, and 95% respectively, while for postganglionic injury, MRI sensitivity, specificity, and accuracy were 60%, 100%, and 99%, respectively.

Conclusion

MRI represents a safe, non-invasive, diagnostic modality having the multiplanar capability and better soft tissue characterization.

Purpose: We aimed to assess the efficacy and safety of flow-diverter stents (FDs) in the management of posterior circulation cerebral aneurysms and compare FD efficacy between anterior and posterior circulation aneurysms.

Methods: We searched the PubMed, Scopus, Cochrane, and Web of Science databases for relevant studies through March 2020. Studies assessing FDs for posterior circulation aneurysms that included ≥20 treated aneurysms were included. Moreover, the studies compared FD efficacy between anterior and posterior circulation aneurysms were included. Data regarding angiographic aneurysmal occlusion, procedural complications, mortality, and morbidity were extracted and pooled in a random-effects meta-analysis model.

Results: Fourteen studies with a total of 659 patients and 676 posterior circulation aneurysms were included. The pooled rate of aneurysmal occlusion at long-term angiographic follow-up was 78% [95% confidence interval (CI), 71-85]. The pooled rates of intraparenchymal hemorrhage, ischemia, and procedure-related mortality and neurological morbidity were 2%, 8%, 7%, and 6%, respectively. Complete occlusion occurred in 82.4% of the posterior circulation aneurysm subgroup and 77.5% of the anterior circulation aneurysm subgroup. The difference was not significant (relative risk 1.01; 95% CI, 0.86-1.19; p = 0.91). Regression analysis showed that elderly patients and females had higher morbidity.

Conclusion: Posterior circulation aneurysms can be effectively treated with FDs with comparable occlusion rates to those in anterior circulation aneurysms. However, periprocedural complications are not negligible.