Neutral-lipid storage disease: a new disorder of lipid metabolism.

Abstract

BRITISH MEDICAL JOURNAL 8 MARCH 1975 553 fetal breathing movements; but further control studies will have to be done to exclude the possibility of the degree of inhalation varying with the type of cigarette.Cigarette smoking in pregnancy is suspected of being detrimental to the fetus. Statistical surveys have shown that the babies are smaller at birth (Butler et al., 1972) and suggested an increase in prematurity and perinatal mortality. It is not easy to relate our observations on the acute effects of smoking two cigarettes to the long-term epidemiological reports. Nevertheless, physiological factors such as hypoxia and hypoglycaemia, which might be expected to have a detrimental effect on the fetus, also reduce the normal incidence of fetal breathing movements in animals and man (Boddy and Dawes, 1975; Boddy et al., 1975). Whether the similar effect of cigarette smoking is to be interpreted in the same way is as yet a matter for conjecture. The size of the transient change observed (see fig.) was less than the normal diurnal variation in the incidence of fetal breathing.We make this report because clinical physiologists and obstetricians in several countries are beginning to use fetal breathing movements as an index of health. These observations are best made some hours after the last cigarette has been smoked to exclude the acute effects of this variable.This work was carried out with the aid of a grant from the Medical Research Council. We thank Professors G. S. Dawes and Alec Turnbull for their help, the consulting staff of the department of obstetrics for access to their patients, the nursing staff, and the subjects. who volunteered for the study.

CGI-58 Interacts with Perilipin and Is Localized to Lipid Droplets

“…Similar results were obtained with HeLa cells (data not shown). These results suggest that the effects of point mutations of CGI-58 were not restricted to the adipocytes or preadipocytes, consistent with the observation that the symptoms of CDS involve multiple organs and systems (33)(34)(35).…”

“…CGI-58 has been reported as a causal gene for CDS [MIM 275630]) (32). CDS is a rare autosomal recessive form of nonbullous congenital ichtyosiform erythroderma (NICE) and is characterized by the intracellular accumulation of LDs in many types of tissues (33)(34)(35). The CGI-58 protein sequence is largely conserved from rodents to humans (Fig.…”

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

“…Diseases that are classically regarded as ichthyosis in the previously published scientific literature and that will continue to be included are shown in Figs 4 and 5. They include Sjögren-Larsson syndrome 75,76 ( Fig 5, B), Refsum syndrome, 77,78 neutral lipid storage disease with ichthyosis (also referred to as ChanarinDorfman syndrome) (Fig 5, G), 40,79,80 ichthyosis folliculariseatrichiaephotophobia syndrome (Fig 5, D), 81,82 Conradi-Hünermann-Happle syndrome (CDPX2) (Fig 5, F ), 83,84 multiple sulfatase deficiency, 85,86 congenital reticular ichthyosiform erythroderma also referred to as ichthyosis variegata 87 (or ichthyosis en confettis 88 ) (Fig 4, E ), and ichthyosis prematurity syndrome 89,90 (Fig 5, E ). In ichthyosis prematurity syndrome, affected pregnancies exhibit abnormal amniotic fluid both on ultrasound imaging and clinically.…”

Functional Cardiac Lipolysis in Mice Critically Depends on Comparative Gene Identification-58

“…(a) The development of cardiomyopathy is always present in humans (and mice) harboring mutated ATGL alleles, whereas cardiomyopathy has not been described for humans carrying mutated CGI-58 alleles (20). (b) CGI-58 mutations cause a severe skin barrier defect in humans and mice (21,22), and accordingly, the disease was designated as NLSD with ichthyosis, formerly named Chanarin-Dorfman syndrome (23). Nevertheless, muscle weakness is described in some NLSD with ichthyosis case reports.…”