ITPA related developmental encephalopathy: Key role of neuroimaging

A 4-month-old girl presented with poor head control. She was born at term without complications. Parents were nonconsanguineous but from the same village. Her neurological examination revealed normal deep tendon reflexes with flexor plantar responses. She had microcephaly (head circumference 36 cm, -3.5 SD) and also dysmorphic features including a high arched palate, long philtrum, anteverted auricles. Metabolic studies including ammonia, serum amino acids, urine organic acids, acylcarnitine profile, lactate, pyruvate levels, and thyroid function studies were normal. Magnetic resonance imaging (MRI) of the brain showed delayed myelination (hyperintensities in the posterior limb of internal capsule) in the T2- weighted image and restricted diffusion in the posterior limb of the internal capsule, optic radiation, cerebral peduncles, substantia nigra, the pyramidal tracts in the midbrain, and cerebellar white matter [Figure 1]. After one month of follow-up, the patient exhibited intractable tonic seizures. Interictal electroencephalogram showed focal spike and slow waves in the left occipital region. She was treated with phenobarbital, levetiracetam, and topiramate. Whole–exome sequencing (WES) analysis revealed a homozygous pathogenic splice-site variant c. 124 + 1G > A located in intron 2 of ITPA gene (PVS1, PM2, PP3, PP5). This variant had been reported previously (rs376142053).{Figure 1

Morphometric Analysis of Greater Palatine Canal by Computed Tomography

Aim: The greater palatine canal connects to the oral cavity through the greater palatine foramen. Preoperatively identifying the morphology of the greater palatine canal and greater palatine foramen is very important to avoid possible complications during surgery. This study aimed to evaluate the greater palatine canal and surrounding anatomical structures using computed tomography. Material and Methods: Images from 100 patients (35 female and 65 male) who had previously undergone computed tomography for various reasons were evaluated. The study data were divided into three age groups, <20 years, 20-60 years, and >60 years. Morphological parameters measured in this study included; diameter measurement from the widest part of the canal, length of the canal, beginning diameter of the canal, the ends diameter of the canal, localization of the canal entrance with respect to the third molar tooth, distance of the canal entrance to palatine suture. The values obtained from the measurements were compared in terms of age group, gender, and side. Results: The mean length of the canalis palatinus major was 15.19±4.38 mm. The diameter of the widest part of the canal and the end of the canal, and the distance between the canal entrance and the sutura palatina increased with age, but these increases were not statistically significant. Conclusion: Proper administration of anesthesia through the greater palatine foramen in maxillofacial surgeries and related applications requires a detailed understanding of the anatomy of the greater palatine canal, and the results of the present study will contribute to the understanding of this anatomy

Use of phase-contrast MRI to measure aortic stiffness in young-onset hypertension: a pilot study

Young-onset hypertension is defined as hypertension diagnosed before the age of40 years. Aortic pulse wave velocity is an indication of aortic stiffness. MRI assessment has beenwell verified compared to invasive pressure recordings for evaluating aortic pulse wave velocity.In this study, we aimed to determine whether aortic stiffness played a role in the aetiology ofyoung-onset hypertension by calculating pulse wave velocity using MRI. Methods: We enrolled20 patients diagnosed with young-onset hypertension and 20 volunteers without hypertension.Aortic pulse wave velocity was measured by cardiac MRI and protocol for the pulse wave veloc-ity measurement involved the use of a 1.5 T scanner to acquire velocity-encoded, phase-contrasttransverse aortic cine images. Sagittal oblique images used to measure the distance (ΔX)between the ascending aorta and descending aorta for the calculation of pulse wave velocity.The aortic flow versus time curves of ascending aorta and descending aorta were automaticallyobtained from the phase-contrast MRI images. Using these curves, the temporal shift (ΔT)was measured by Segment Medviso. Findings: The mean pulse wave velocity was 8.72(SD 2.34) m/second (range: 7–12.8 m/second) for the patient group and 5.96 (standarddeviation 1.86) m/second (range: 4.8–7.1 m/second) for the control group. The pulse wavevelocity values were significantly higher in the patient group compared to the control group(p < 0.001). Interpretation: Aortic stiffness may play a role in the aetiology of young-onsethypertension and serve as a non-invasive and reliable screening tool when measured by MRI. (PDF) Use of phase-contrast MRI to measure aortic stiffness in young-onset hypertension: a pilot study. Available from: https://www.researchgate.net/publication/359083437_Use_of_phase-contrast_MRI_to_measure_aortic_stiffness_in_young-onset_hypertension_a_pilot_study#fullTextFileContent [accessed Feb 28 2023].No sponso