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1.
Pediatr. catalan ; 77(1): 27-29, ene.-mar. 2017. tab, ilus
Article in Catalan | IBECS | ID: ibc-164710

ABSTRACT

Introducció: la pel•lagra, o malaltia de les 3D (dermatitis, diarrea, demència), es produeix per un dèficit de niacina (vitamina B3). És freqüent en països subdesenvolupats amb elevada prevalença de desnutrició, però és infreqüent en països desenvolupats, i en aquests afecta pacients amb malalties de base, fonamentalment alcohòlics amb desnutrició. Cas clínic: adolescent de 13 anys afectada d'anorèxia ner-viosa molt restrictiva que presentava una dermatitis fotosensible a la zona de l'escot (collar de Casal), produïda per un dèficit greu de niacina. Comentaris: hi ha pocs casos descrits de pel•lagra en relació amb trastorns de la conducta alimentària (anorèxia ner-viosa) i no s'ha trobat publicat cap cas en l'edat pediàtrica per aquest motiu. És interessant la presentació del cas, ja que pot tenir un desenllaç mortal si no rep tractament amb niacina


Introducción. La pelagra, o enfermedad de las 3D (dermatitis, diarrea, demencia), se produce por un déficit de niacina (vitamina B3). Es frecuente en países subdesarrollados con altas tasas de malnutrición, pero es infrecuente en países desarrollados, y en estos afecta a pacientes con patología de base, fundamentalmente a alcohólicos con malnutrición. Caso clínico. Adolescente de 13 años afecta de anorexia nerviosa muy restrictiva que presentaba una dermatitis fotosensible a nivel del escote (collar de Casal), producida por déficit grave de niacina. Comentarios. Se han descrito pocos casos de pelagra en relación con trastornos de conducta alimentaria (anorexia nerviosa) y no se ha encontrado publicado ningún caso en la edad pediátrica por dicho motivo. Es interesante la presentación del caso, que puede tener un desenlace mortal de no recibir tratamiento con niacina (AU)


Introduction. Pellagra, also known as the 3D disease, presents with diarrhea, dermatitis and dementia, and it is due to a deficit of niacin (vitamin B3). It is frequently seen in underdeveloped countries with high malnutrition rates, and it commonly affects people with chronic diseases, usually malnourished alcoholics. Case report. We describe the case of a 13 years old adolescent female with very restrictive anorexia nervosa who presented with a photosensitive dermatitis in the neck area (Casal necklace) due to a very severe niacin deficit. Comments. Reports of pellagra due to an eating disorder such anorexia nervosa are very rare in the literature, with no pediatric cases reported. If undiagnosed and treated, this disease can have a fatal outcome (AU)


Subject(s)
Humans , Female , Adolescent , Pellagra/complications , Pellagra/diagnosis , Pellagra/drug therapy , Anorexia Nervosa/complications , Nicotinic Acid Deficiency/complications , Nicotinic Acid Deficiency/etiology , Niacinamide/therapeutic use , Feeding and Eating Disorders/complications , Feeding and Eating Disorders/therapy , Malnutrition/complications
2.
Sci Rep ; 6: 24167, 2016 Apr 19.
Article in English | MEDLINE | ID: mdl-27090298

ABSTRACT

The enzyme FASN (fatty acid synthase) is potentially related with hypertension and metabolic dysfunction. FASN is highly expressed in the human placenta. We aimed to investigate the relationship circulating FASN has with blood pressure, maternal metabolism and newborn parameters in healthy pregnant women. Circulating FASN was assessed in 115 asymptomatic pregnant women in the second trimester of gestation along with C-peptide, fasting glucose and insulin, post-load glucose lipids, HMW-adiponectin and blood pressure (the latter was assessed in each trimester of gestation). At birth, newborns and placentas were weighed. FASN expression was also able to be assessed in 80 placentas. Higher circulating FASN was associated with lower systolic blood pressure (SBP), with a more favourable metabolic phenotype (lower fasting glucose and insulin, post load glucose, HbAc1, HOMA-IR and C-peptide), and with lower placental and birth weight (all p < 0.05 to p < 0.001). Placental FASN expression related positively to circulating FASN (p < 0.005) and negatively to placental weight (p < 0.05). Our observations suggest a physiological role of placental FASN in human pregnancy. Future studies will clarify whether circulating FASN of placental origin does actually regulate placental and fetal growth, and (thereby) has a favourable influence on the pregnant mother's insulin sensitivity and blood pressure.


Subject(s)
Fatty Acid Synthases/biosynthesis , Hypertension/enzymology , Insulin/metabolism , Placenta/enzymology , Adult , Blood Pressure/genetics , Fatty Acid Synthases/blood , Fatty Acid Synthases/genetics , Female , Gene Expression Regulation, Enzymologic , Glucose/metabolism , Humans , Hypertension/blood , Hypertension/genetics , Hypertension/pathology , Infant, Newborn , Insulin Resistance/genetics , Lipid Metabolism/genetics , Pregnancy
3.
Pediatr Res ; 64(1): 97-9, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18344906

ABSTRACT

Prenatal growth is known to affect glomerular function in adult life. It is unknown, however, whether this association is also present in children. In a cross-sectional study, we examined whether birth weight (BW) is associated with serum creatinine (measured by an improved Jaffe method) and GFR (estimated by the Haycock-Schwartz formula; eGFR) in 73 apparently healthy school-age children (35 boys and 38 girls; age 9.5 +/- 0.4 yr). All children were born after singleton term pregnancies (gestational age 39.6 +/- 0.2 wk) with normal BW (3.2 +/- 0.04 kg). A significant decrease in serum creatinine and increase in the eGFR was evident by tertiles of BW-SD score (SDS) (p = 0.001 and p < 0.0001). eGFR was correlated with BW-SDS (r = 0.45; p < 0.0001), so that each unit increase in BW-SDS was associated with an increase in eGFR of 10 (95% CI 5-14) ml/min per 1.73 m. In summary, estimates of glomerular function are in apparently healthy school-age children influenced by size at birth. These findings suggest early effects for the prenatal programming of renal function in humans.


Subject(s)
Birth Weight , Creatinine/blood , Fetal Development , Glomerular Filtration Rate , Kidney/physiology , Child , Cross-Sectional Studies , Female , Gestational Age , Humans , Kidney/embryology , Male , Models, Biological , Reference Values , Spain
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