METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease.
RESULTS: We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS.
CONCLUSIONS: MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.
MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
METHODS: Children undergoing FB were prospectively enrolled. Their FB was digitally recorded and assessed (two clinicians blinded to each other and clinical history) for six features: secretion amount (six-point scale), secretion color (BronkoTest, 0-8), mucosal oedema (0-3), ridging (0-3), erythema (0-3), and pallor (0-3) based on pre-determined criteria. We correlated (Spearman's rho) each feature with bronchoalveolar lavage (BAL) neutrophil percentage (neutrophil%). BScore was then derived using models with combinations of the six features that best related to airway BAL neutrophil%. The various models of BScore were plotted against BAL neutrophil% using receiver operating characteristic (ROC) curves.
RESULTS: We analyzed 142 out of 150 children enrolled. Eight children were excluded for unavailability of BAL cytology or FB recordings. Chronic/recurrent cough was the commonest indication for FB (75%). The median age was 3 years (IQR, 1.5-5.3 years). Secretion amount (r = 0.42) and color (r = 0.46), mucosal oedema (r = 0.42), and erythema (r = 0.30) significantly correlated with BAL neutrophil%, P 10%).
CONCLUSION: This prospective study has developed the first validated bronchitis scoring tool in children based on bronchoscopic visual inspection of airways. Further validation in other cohorts is however required.
Materials and Methods: GCF of 160 individuals (4-15 years of age) was collected by the extracrevicular method. They were categorized into four groups (40 per each group). Group I: subjects with primary dentition (4-5 years of age), Group II: 40 subjects in early transition period (6-8 years), Group III: 40 individuals in the late transition period (9-11 years), and Group IV: 40 individuals with permanent dentition (12-15 years). MIP-lα and MIP-1β levels were determined in the samples of GCF by ELISA method. Data were analyzed by software SPSS Version 20 (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY: USA).
Results: MIP-1α and MIP-1β were detected in all samples. The highest mean MIP-1α and MIP-1β concentrations in GCF were detected in the early transition period, while the lowest concentrations were seen in primary dentition group. The chemokine levels were higher in girls than in boys in Group III. There was a substantial rise of MIP-1α and MIP-1β levels during eruption.
Conclusions: Since levels of MIP-1α and MIP-1β in GCF are positively associated with tooth eruption, they may perhaps be deemed as novel biomarkers in the eruption process.
PATIENTS AND METHODS: Adult men with hypospadias repair in childhood were recruited (n = 55; aged 19.9 [IQR 19.2-22.1]). Coping styles were determined with the Utrecht Coping List (UCL) and results compared with a reference group of male students (n = 55, age 20-30 years, no medical history). Sub analysis of coping styles of the hypospadias groups was done based on three items: severity of hypospadias, time of last hypospadias surgery and occurrence of postoperative complications.
RESULTS: Compared to the reference groups, patients with hypospadias had higher scores on Avoidance (P