Oral manifestations in a boy with X-linked reticulate pigmentary disorder

X-linked reticulate pigmentary disorder (XLPDR) is a rare, multi-systemic disease with only a limited number of families described in the literature. XLPDR has a genetic origin and the gene has been mapped to Zp22p21. Dental features resemble those of hypohidrotic ectodermal dysplasia. A case of a 3-years-old boy is described

Oral manifestation of Goltz-Gorlin syndrome in a young girl

Introduction Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene. We report the case of a young female, focusing on the dental features. Aim To describe the oral manifestation of a rare disorder that resembles ectodermal dysplasia (ED). Case report Clinical, radiological and genetic findings revealed common features of Goltz-Gorlin syndrome and pure ED. Oro-dental characteristics of the patient mostly corresponded to those described in the literature. However, previously unreported oro-dental findings such as taurodontism, peg-shaped teeth and microdontia are considered unusual for Goltz-Gorlin syndrome, but similar to the dental features of hypohidrotic ED. Clinical characterization of the patient by a multidisciplinary approach is described and a comprehensive review of the literature is presented

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

: Niemann-Pick C disease (NPCD) is a rare autosomal recessive neurovisceral disorder with a heterogeneous clinical presentation. Cholestan-3β,5α,6β-triol and 7-ketocholesterol have been proposed as biomarkers for the screening of NPCD. In this work, we assessed oxysterols levels in a cohort of Italian patients affected by NPCD and analyzed the obtained results in the context of the clinical, biochemical and molecular data. In addition, a group of patients affected by Niemann-Pick B disease (NPBD) were also analyzed. NPC patients presented levels of both oxysterols way above the cut off value, except for 5 siblings presenting the variant biochemical phenotype who displayed levels of 3β,5α,6β-triol below or just above the cut-off value; 2 of them presented also normal levels of 7-KC. Both oxysterols were extremely high in a patient presenting the neonatal systemic lethal phenotype. All NPB patients showed increased oxysterols levels. In conclusion, the reported LC-MS/MS assay provides a robust non-invasive screening tool for NPCD. However, false negative results can be obtained in patients expressing the variant biochemical phenotype. These data strengthen the concept that the results should always be interpreted in the context of the patients' clinical picture and filipin staining and/or genetic studies might still be undertaken in patients with normal levels of oxysterols if symptoms are highly suggestive of NPCD. Both oxysterols are significantly elevated in NPB patients; thus a differential diagnosis should always be performed in patients presenting isolated hepatosplenomegaly, a common clinical sign of both NPCD and NPBD

Structured activity and multiple group memberships as mechanisms of increased depression among young people not in employment, education or training

Aims Young people Not in Employment, Education and Training (NEET) are at increased risk of depression, yet mechanisms of this association are poorly understood. We hypothesised that being NEET has both behavioural and social identity consequences and that reductions in structured activity and multiple group memberships underlie increased depression in this group. Our purpose was to assess first whether depression was greater for NEET compared to non‐NEET young people from the same geographical locality, and secondly, whether a loss of structured activity leading to a reduction in multiple group memberships explains the NEET‐depression association. Methods The present study was a cross‐sectional between‐groups design using convenience sampling. Measures of depression, structured activity and multiple group memberships were obtained from 45 NEET young people and 190 university students (non‐NEET). Results The NEET group reported significantly more depression symptoms compared to the non‐NEET student control group. A path model specifying NEET status as a predictor of depression, with this association mediated by a reduction in structured activity and fewer multiple group memberships (standardised indirect = 0.03, unstandardised indirect = 0.62, P = 0.052, 95% bias corrected confidence intervals [0.21,1.44]), provided excellent fit to our data: χ2(3) = 0.26, P = 0.968, comparative fit index (CFI) = 1.00, root mean square error of approximation (RMSEA)<0.01, standardized root mean square residual (SRMR) = 0.01). Conclusions Our findings suggest that depression is elevated amongst NEET young people compared to non‐NEET students from the same locality. The association between NEET status and depression was partially mediated by reduced structured activity and its association with reduced multiple group memberships. Although using cross‐sectional data, our findings suggest social interventions may be a key resource in ameliorating depression amongst NEET young people; through preserving engagement in structured activity and the wellbeing benefits derived from arising multiple group memberships. Methods: The present study was a cross-sectional between-groups design using convenience sampling. Measures of depression, structured activity and multiple group memberships were obtained from 45 ‘NEET’ young people and 190 university students (Non-‘NEET’). Results: The NEET group reported significantly more depression symptoms compared to the Non-NEET student control group. A path model specifying NEET status as a predictor of depression, with this association mediated by a reduction in structured activity and fewer multiple group memberships (standardised indirect = 0.03, unstandardised indirect= 0.62, p= .052, 95% Bias Corrected CIs [0.21; 1.44]), provided excellent fit to our data χ2(3)= 0.26, p= .968, CFI= 1.00, RMSEA< .01, SRMR= .01, AIC= 2,792.75, BIC= 2,818.20). Conclusions: Our findings suggest depression is elevated amongst NEET young people compared to Non-NEET students from the same locality. The association between NEET status and depression was partially mediated by reduced structured activity and its association with reduced multiple group memberships. Although cross-sectional, our findings suggest social interventions may be a key resource in ameliorating depression amongst NEET young people; through preserving engagement in structured activity and the wellbeing benefits derived from arising multiple group memberships

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR &lt; 60 mL/min/1.73 m2) or eGFR reduction &gt; 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR &lt; 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR &gt; 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening