Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. She was diagnosed with phenotypic CGL at age 7 months. At age...

BACKGROUND Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are ...

Time varying correlations are often estimated with multivariate generalized autoregressive conditional heteroskedasticity (GARCH) models that are linear in squares and cross products of the data. A new class of multivariate models called dynamic conditional correlation models is proposed. These have the  exibility of univariate GARCH models coupled with parsimonious parametric models for the c...

Logistic regression1 has been widely used in direct marketing applications to develop response and conversion models. Although attractively simple, logistic regression has been criticized for failing to capture the nonlinearity, and therefore possibly not leading to satisfactory results. Introduced by Hastie and Tibshirani, Generalized Additive Model2 (GAM) provides the ability to detect the no...

The generalized wordlength pattern (GWLP) introduced by Xu and Wu (2001) for an arbitrary fractional factorial design allows one to extend the use of the minimum aberration criterion to such designs. Ai and Zhang (2004) defined the J-characteristics of a design and showed that they uniquely determine the design. While both the GWLP and the J-characteristics require indexing the levels of each f...

Lipodystrophies are a group of diseases characterized by loss of fat tissue and are associated with insulin resistance. A six-year-old girl followed with the diagnosis of autoimmune hepatitis showed a severe loss of fat tissue, hyperinsulinemia, impaired glucose tolerance, hypertriglyceridemia and low serum complement 4 (C4) levels. She had coarse facial features with generalized loss of subcut...

A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the c...

This note describes generalized expectation (GE) criteria, a framework for incorporating preferences about model expectations into parameter estimation objective functions. We discuss relations to other methods, various learning paradigms it supports, and applications that can leverage its flexibility.

Obesity is characterized by accumulation of excess body fat, while lipodystrophy is characterized by loss or absence of body fat. Despite their opposite phenotypes, these two conditions both cause ectopic lipid storage in non-adipose tissues, leading to lipotoxicity, which has health-threatening consequences. The exact mechanisms underlying ectopic lipid storage remain elusive. Here we report t...