Missense mutations of the lamin A/C gene, LMNA, have been recently identified in Dunnigan-type familial partial lipodystrophy (FPLD), which belongs to a heterogeneous group of rare disorders affecting adipose tissue distribution and metabolism. In this study, we sequenced the LMNA coding region from patients presenting with FPLD or other forms of lipodystrophy. We identified two heterozygous mutations in exon 8, R482W and R482Q, in FPLD patients (six families and one individual) with various clinical presentations. In addition, we found a novel heterozygous mutation (R584H) in exon 11, encoding specifically the lamin A isoform, in a patient with typical FPLD. Clinical and biochemical investigations in FPLD patients revealed that the expression and the severity of the phenotype were markedly dependent on sex, with female patients being more markedly affected. In subjects with generalized lipoatrophy, either congenital (13 case subjects) or acquired (14 case subjects), or Barraquer-Simon syndrome (2 case subjects), the entire LMNA coding sequence was normal. Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD.

BackgroundThe incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D.MethodsCases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child’s environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods.ResultsWe found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age.ConclusionsThe found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas.Trial registrationClinical-Trial.gov NCT02212522. Registered August 6, 2014. Electronic supplementary materialThe online version of this article (doi:10.1186/s12889-016-3690-9) contains supplementary material, which is available to authorized users.

Purpose We assessed early hemodynamic characteristics of various types of retinal vein occlusion using color Doppler imaging and spectral analysis. Methods We measured the maximum systolic and diastolic blood flow velocities and the resistance index (RI) in the central retinal artery and the maximum and minimum blood flow velocities in the central retinal vein of affected eyes and contralateral unaffected eyes in 102 adults (63 men and 39 women; mean age, 61 ± 14.6 years) who presented with retinal vein occlusion. Sixty‐three control subjects (27 men and 36 women; mean age, 50 ± 22.1 years) were also investigated. Results No significant differences in hemodynamic characteristics were found between the control subjects' eyes and the patients' unaffected eyes. In the 18 cases of ischemic central retinal vein occlusion, the mean diastolic arterial flow velocity (p = 0.005) and venous flow velocity (p < 0.04) were lower and the mean RI was higher (p = 0.0002) in the affected eyes than in the unaffected contralateral eyes. In the 51 cases of nonischemic central retinal vein occlusion, the mean diastolic arterial flow velocity (p < 0.0001) and venous flow velocity (p < 0.0001) also were lower and the mean RI (p < 0.0001) was higher in the affected eyes than in the unaffected contralateral eyes. These variables were different in the ischemic versus nonischemic types of central retinal vein occlusion. In the 33 cases of branch retinal vein occlusion, no significant differences were observed in arterial or venous blood flow velocities in the affected versus unaffected eyes. The mean RI in the affected eyes was significantly higher (p = 0.009) in patients with central versus branch retinal vein occlusion. Conclusions These results suggest that previous arterial disorders were not involved in the pathogenesis of central retinal vein occlusion in these patients. The findings also support the value of Doppler imaging and spectral analysis in the diagnosis and evaluation of retinal vein occlusion and confirm the involvement of arterial flow in venous occlusion. © 2000 John Wiley & Sons, Inc. J Clin Ultrasound 28:28–33, 2000.

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