Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...

The Fourier transforms of Laguerre functions play the same canonical role in wavelet analysis as do the Hermite functions in Gabor analysis. We will use them as analyzing wavelets in a similar way the Hermite functions were recently by Gröchenig and Lyubarskii in Gabor frames with Hermite functions, C. R. Acad. Sci. Paris, Ser. I 344 157-162 (2007). Building on Seip ́s work Beurling type density...

Triacylglycerol is a universal storage molecule for metabolic energy in living organisms. However, Dictyostelium amoebae, that have accumulated storage fat from added fatty acids do not progress through the starvation period preceding the development of the durable spore. Mutants deficient in genes of fat metabolism, such as fcsA, encoding a fatty acid activating enzyme, or dgat1 and dgat2, spe...

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subc...

OBJECTIVE To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS AND METHODS Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. RESULTS Lep...

Congenital generalized lipodystrophies (CGLs) are very rare autosomal recessive disorders which have four types. Of the four CGL types, BSCL2 (Berardinelli–Seip Congenital lipodystrophy type 2) is the result of mutations in the BSCL2/seipin gene. BSCL2 that is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, ...

To examine the prognosis of patients who present with very advanced HIV-induced immunodeficiency, and their response to highly active antiretroviral therapy (HAART), a series of 101 treatment naïve patients from the Serbian cohort of HIV infected patients, who presented with a CD4 count of </= 50/microL before commencing HAART, was retrospectively analyzed and factors influencing response to HA...