The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico-radiological findings. This study aims to show the benefit of using the clinico-radiological findings for early diagnosis of children with MSUD, and confirming this diagnosis using the tandem mass spectrometry (MS/MS), in order to avoid deleterious outcome. METHODS: A prospective cohort study conducted in the period from August 2016 to December 2020. Twenty-one children were included either by selective screening or by high-risk screening. All children had clinical and neurodevelopmental evaluation, brain magnetic resonance imaging (MRI) assessment, and blood amino acids analysis at diagnosis. Patients were followed clinically. RESULTS: Most children had acute onsets neuro-developmental symptoms, with wide range of brain parenchyma involvement on MRI (hyperintensity). Diagnosis of MSUD was confirmed by detecting high serum levels of leucine/isoleucine (mean value 2085.5 µmol/L) in all patients, and elevated levels of serum valine in (81%) of children. In addition, all children showed elevated leucine: alanine ratio, and leucine: phenylalanine ratio. CONCLUSIONS: The characteristic clinico-radiological features can help in the early diagnosis of MSUD children, thus preventing the delay in laboratory diagnosis and improving their outcomes.

Non-Invasive Prediction of Coronary Artery Disease by Multiple Abdominal Fat and Anthropometric Indices: Revisit.

PURPOSE: The aim of this study was to evaluate the efficiency of multiple abdominal fat indices measured by ultrasound and anthropometric indices to predict the presence and severity of coronary artery disease (CAD) assessed by coronary angiography. PATIENTS AND METHODS: All participants subjected to clinical and laboratory assessments. Anthropometric measurements were taken followed by an ultrasound examination to measure fat thickness at multiple abdominal areas. Lastly, selective coronary angiography performed by the Judkins technique. Statistical analysis was performed to detect the association between all variables and CAD, followed by regression analysis, and Odds ratio (OR) was used to quantifies the strength of the association between two events. RESULTS: From the abdominal indices, the posterior right perinephric fat thickness (PRPFT) above the best cutoff value had the highest hazard ratio (HR: 12.3, p = 0.001), followed by visceral adipose tissue volume (VAT) (HR: 10.7, p < 0.001), waist circumference (WC) (HR: 6.7, p = 0.001), visceral fat thickness (VFT) (HR: 5.7, p = 0.002), and body mass index (BMI) (HR: 5.48, p = 0.017). It also showed an independent association between the severity of CAD and WC (HR: 4.28, p = 0.012), VFT (HR: 3.7, p = 0.032), VAT (HR: 3.7, p = 0.034), and waist to height ratio (WHtR) (HR: 3.3, p = 0.033). CONCLUSION: Posterior perinephric fat thickness and visceral adipose tissue volume measured by ultrasound are strong noninvasive predictors for coronary artery disease, followed by body mass index, waist circumference and visceral fat thickness.

Coincidence of Concha Bullosa with Nasal Septal Deviation; Radiological Study.

Introduction Concha bullosa (CB) is the most common sinonasal anatomical variation reported in literature, it occurs most often in the middle turbinate. Causes of development are not clearly identified but coincident prevalence with deviated nasal septum (DS) is common. Objective To study the relationship between DS and development of CB. Methods A prospective study including 40 patients with DS, CT scans were thoroughly analyzed to detect the presence of CB, its type, and laterality. Effect of degree of septal deviation from the midline and level of deviation in the axial plane were also addressed. Results The study included 40 patients with DS; 15 of them had associated CB; the lamellar type of CB was the most prevalent followed by the true type. Conclusion Incidence of CB was higher in patients with increased angle of septal deviation and with lower level of deviation in the axial plane.

Radiological requirements for surgical planning in cochlear implant candidates.

OBJECTIVE: This study is concerned with clarification of radiological findings that should be addressed and reported in patients listed for cochlear implant (CI) operation. These findings may force a surgeon to consider modifications of the surgical approach by a CI surgeon. MATERIALS AND METHODS: The study was performed from January 2015 to January 2016. It included 50 patients with severe-to-profound sensorineural hearing loss who fulfilled the criteria for CI. Patients underwent CI surgery in the Department of Otolaryngology. All patients underwent preoperative computed tomography (CT) and magnetic resonance imaging (MRI) assessment in the Department of Diagnostic Radiology. Combined examination of the CT and MRI by the radiologist and the surgeon was advocated. RESULTS: Many anatomical variants were observed regarding the pattern of mastoid pneumatization, position of middle cranial fossa dura, sigmoid sinus position jugular bulb position, and the size and position of the mastoid segment of facial nerve canal. Labyrinthitis ossificans was seen in 3 patients (6%), otospongiosis in 1 patient (2%), and dilated vestibular aqueduct and endolymphatic sac in 9 patients (18%). CONCLUSION: Cochlear implantation is a major treatment modality in patients with severe-to-profound sensorineural hearing loss. Radiological evaluation is integral in surgery planning.