Does the duration of video-EEG recording influence diagnostic yield in pediatric epilepsy: Results from a single center study.

AIM: This exploratory study examines the association of the duration of electroencephalography (EEG) recordings to diagnostic yield in children undergoing evaluation for seizures. METHOD: Clinical and EEG data on three hundred and ten patients (167 males and 143 females) were reviewed retrospectively. 134 (43.2%) children with focal-onset seizures, and 59 (19%) children with generalized-onset seizures. The mean duration of recordings in studies interpreted as "diagnostic" was compared to studies that were interpreted as "non-diagnostic". EMU recordings were also compared to routine EEG studies to identify the relationship between routine EEG and diagnostic studies. RESULTS: The principal finding of this study indicates that a longer duration of monitoring is more likely to be associated with a positive diagnostic yield. Mean duration of recording in children with a "non-diagnostic study" was 31.05 hours versus 44.27 hours; p < 0.001 in a "diagnostic study". EMU recordings are likely to be diagnostic with longer epilepsy duration (2.6 years vs 3.7 years; p < 0.01). A diagnostic EEG from a prolonged recording is more likely to be achieved in children with abnormal routine EEG and focal-onset seizures. p < 0.001. INTERPRETATION: Tailoring the optimal duration of EEG recordings and factoring in confounding variables will reduce the need for repeated studies, improving diagnostic utility and permitting efficient utilization of resources.

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Background: Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/synthetase enzyme secondary to pathogenic variations in the SUCLG1 and SUCLA2 genes is a subtype of MDDS that presents with neurological manifestations and a specific biochemical profile. Methods: This cross-sectional series describes five patients with MDDS secondary to pathogenic variations in the SUCLG1 and SUCLA2 genes from two tertiary care centers in Canada and India. Clinical data concerning the course, investigations, and outcome were gathered through chart reviews. Results: All subjects presented in early infancy with neurological manifestations, including movement disorder, psychomotor regression, developmental delay, hearing loss, behavioral issues, or a combination thereof. Elevated methylmalonic acid metabolites, an abnormal acylcarnitine profile, and lactic acidemia were noted in the biochemical profile of each patient (n = 5/5, 100%). Molecular genetic testing disclosed the presence of pathogenic homozygous mutations in four subjects and compound heterozygosity in one subject. Conclusion: MDDS associated with SUCLG1 and SUCLA2 genes can be detected biochemically by the presence of methylmalonic aciduria besides the elevation of lactate, C3, C4DC, and C5-OH acylcarnitine. Conducting metabolic workups including MMA and acylcarnitine profiles in patients with heterogeneity of clinical symptoms associated with the presence of this biochemical marker may potentially reduce the time to diagnosis and management.

Dental caries experience in patients with aggressive periodontitis compared to those with chronic periodontitis.

OBJECTIVE: It has been reported that caries prevalence in patients with aggressive periodontitis (ie, juvenile periodontitis) might be higher than that in matched controls. However, the available results are inconclusive. The aim of this study was to assess this relationship by comparing caries experience among subjects with generalized aggressive periodontitis (AgP) and those with chronic periodontitis (CP) and to identify reasons for tooth loss in both groups. METHOD AND MATERIALS: A convenient sample of subjects with AgP (210) and CP (332) was evaluated for decayed, missing, and filled teeth (DMFT) by both clinical and radiographic methods. Statistical analysis was performed by t test and ANOVA. RESULTS: The AgP subjects have significantly less caries experience than the CP subjects older than 20 (P < .001). Tooth loss was mainly due to periodontal disease in AgP subjects and caries in CP subjects. CONCLUSION: Subjects with AgP have significantly less caries experience than subjects with CP over 20 years of age (P < .001).

Cephalometric measurements and facial deformities in subjects with beta-thalassaemia major.

This study was performed to identify cephalometric and facial features of patients with beta-thalassaemia major. A total of 54 thalassaemic subjects were examined for craniofacial deformities, including 37 patients (24 males and 13 females, aged 5-16 years) who had lateral cephalometric radiographs. The thalassaemic groups were compared with a normal control group matched for sex and dental age, using a t-test. All thalassaemic patients had a Class II skeletal base relationship. The average ANB angle was significantly larger than the controls in dental stages 2 and 3 (P < 0.05). Mandibular base length (Ar-Gn) was significantly less in thalassaemic patients than in controls, with the greatest differences (P < 0.001) found in the younger age group. The maxilla was of normal length (PNS-ANS, Ptm'-ANS') and appeared prominent (3.3 mm in males and 5.1 mm in females) due to a reduced cranial base length (Ar'-S') and a short mandible (Ar'-P'). Vertically, thalassaemic patients showed a significantly increased maxillary/mandibular planes angle in all groups, with differences ranging between 6.19 and 12.55 degrees (P < 0.001). Thalassaemic patients also showed a reduced posterior facial height (S-Go, Ar-Go) and increased anterior facial proportions. Of the 54 thalassaemic patients examined, 17 per cent had severe facial disfigurements (grade 3).