Síndrome de quilomicronemia: aspectos genéticos y revisión de la literatura / Chylomicronemia syndrome: genetic aspects and literature review

Chylomicronemia syndrome is a metabolic condition characterized by severe hypertriglyceridemia and fasting chylomicronemia, secondary to an alteration in the ability to metabolize triglycerides. It can respond to different etiologies, the most frequent being multifactorial. Familial chylomicronemia syndrome, on the other hand, represents an infrequent cause of chylomicronemia syndrome, showing an autosomal recessive inheritance pattern. It's caused by pathogenic variants in genes related to chylomicron's metabolism, mainly LPL1 gene. One of the main associated risks is the occurrence of acute pancreatitis, which can also have a recurrent course. The primary therapy goal in patients with this condition is prevention of pancreatitis and related comorbidities. The treatment basis consists in reduce chylomicron formation by restriction of dietary fat, in association with physical activity and pharmacologic therapy. It is important to distinguish the etiology of chylomicronemia syndrome since it has repercussions in terms of response to treatment, complications, and recurrence risk. (AU)

Estudios genéticos sobre espina Bífida en Chile: por dónde comenzar?: [revisión] / Genetic studies of spina bifida in Chile: where do we start?: [review]

Neural tube defects (NTDs) are a group of congenital anomalies that affect the central nervious system. Spina Bifida (SB) is the most frecuent NTD in live births andi t is usually associated to disease, disability; and mortality. NTDs are considered as a multifactorial disease. Women who use folic acid periconceptionally are at a 50-70% reduced risk for NTD-affected pregnancies. More than 80 candidates genes to SB are been studied, someones related to folic acid metabolic pathway. MTHFR gene is the gene more studied in NTDs. Its allele 677T is asóciate to higher risk to NTD. It is important to study polymorphisms in MTHFR gene in Chile because Chilean population has dfferent ethnic origen from others previous studied populations.

Conocimiento sobre el ácido fólico en la prevención de defectos de cierre del tubo neural: una encuesta a mujeres que viven en Santiago de Chile / Awareness of post partum women on the effects of folie acid in the prevention of congenital anomalies

Background: Wheat flour in Chile is fortified with folie acid and pregnant women are also supplemented with the vitamin, but the population level of knowledge or awareness about this vitamin and its use by pregnant women is unknown. Aim: To assess the level of knowledge that postpartum women from Santiago de Chile have about folie acid. Material and methods: A questionnaire about folie acid and its efects on the prevention of neural tube defects was developed adapting questionnaires designed abroad. It was applied by medical students to puerperal women, hospitalized in public hospitals. Results: The questionnaire was applied to 342 women aged 26 ± 7 years. Sixty one percent were housewives and 55 percent completed high school education. Forty seven percent of these women had heard about folie acid, 9.6 percent knew that it was able to prevent congenital defects and only one received an adequate supplementation during pregnancy. Women aged 25 to 34 years and those with an adequate medical care during pregnancy had a significantly better knowledge about folie acid and its role in the prevention of congenital anormalies. The more commom means to receive information about folie acid were midwifes (34 percent), mass media (28 percent) and doctors (20 percent). Two hundred eleven women (62 percent) agreed to take folie acid in a future gestation and 58 percent preferred to do so using fortified foods. Conclusions: Post partum women from Santiago have a poor knowledge about the relevance of folie acid supplementation.

[Awareness and knowledge of the use of folic acid in the prevention of neural tube defects: a survey of women living in Santiago, Chile]. / Conocimiento sobre el ácido fólico en la prevención de defectos de cierre del tubo neural: una encuesta a mujeres que viven en Santiago de Chile.

BACKGROUND: Wheat flour in Chile is fortified with folie acid and pregnant women are also supplemented with the vitamin, but the population level of knowledge or awareness about this vitamin and its use by pregnant women is unknown. AIM: To assess the level of knowledge that postpartum women from Santiago de Chile have about folic acid. MATERIAL AND METHODS: A questionnaire about folic acid and its effects on the prevention of neural tube defects was developed adapting questionnaires designed abroad. It was applied by medical students to puerperal women, hospitalized in public hospitals. RESULTS: The questionnaire was applied to 342 women aged 26 +/- 7 years. Sixty one percent were housewives and 55% completed high school education. Forty seven percent of these women had heard about folic acid, 9.6% knew that it was able to prevent congenital defects and only one received an adequate supplementation during pregnancy. Women aged 25 to 34 years and those with an adequate medical care during pregnancy had a significantly better knowledge about folic acid and its role in the prevention of congenital anomalies. The more common means to receive information about folic acid were midwives (34%), mass media (28%) and doctors (20%). Two hundred eleven women (62%) agreed to take folic acid in a future gestation and 58% preferred to do so using fortified foods. CONCLUSIONS: Post partum women from Santiago have a poor knowledge about the relevance of folic acid supplementation.

Conocimiento y uso de ácido fólico periconcepcional: estudio comparativo entre puérperas adolescentes y adultas en Santiago de Chile / Knowledge and use of periconceptional folic acid

Introduction: intake of Folic Acid (FA) before conception and during early pregnancy reduces the incidence of neural tube defects (NTD). In Chile the management of the pregnant adolescent women is a relevant public health problem. So, the aim of this study was to determine the level of knowledge and intake of FA in a sample of adolescent and older parturient. Methods: a survey was conducted in one group of teenagers (group A) and another group of older puerperal (group B) corresponding to four public maternities of Santiago. Results: finally, 79 teenagers and 263 older women were surveyed. Both groups showed a poor knowledge about the benefit of intake of FA during this period. Regarding the control before pregnancy, we found an attendance of 10.1 percent in the group A and 24.7 percent in the group B, whereas only 5.1 percent of the group A and 1.9 percent of the group B had an intake of FA according to the medical recommendation. Conclusion: our patients have scanty information about the benefits of the periconceptional intake of FA. It seems necessary to design new methods and tools in order to increase the use of the FA in women of childbearing age, especially in the groups at risk for NTD.

Estudio genético de una familia chilena con tres fenotipos dentales diferentes / Genetic studies of a Chilean family with three different dental anomalies

Background: Congenital dental anomalies can affect up to 25 percent of the population. Aim: To report the genetic study of a family with dental anomalies. Material and methods: We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. Results: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. Conclusions: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.

[Genetic studies of a Chilean family with three different dental anomalies]. / Estudio genético de una familia chilena con tres fenotipos dentales diferentes.

BACKGROUND: Congenital dental anomalies can affect up to 25% of the population. AIM: To report the genetic study of a family with dental anomalies. MATERIAL AND METHODS: We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. RESULTS: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. CONCLUSIONS: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.

[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]. / Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi.

BACKGROUND: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in the imprinting center. AIM: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. PATIENTS AND METHODS: Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. RESULTS: Twenty three (51.1%) patients had a deletion, 13 (28.9%) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. CONCLUSIONS: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS.

Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi / Clinical, genetic and molecular features in 45 patients with Prader-Willi Syndrome

Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25percent to uniparental disomy and 1percent to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods: Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1percent) patients had a delection, 13 (28.9percent) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS .

Progeria / Progeria

La progeria o síndrome de Hutchinson-Gilford es un síndrome poco frecuente. Consiste en la aparición de signos de envejecimiento en niños entre su primer y segundo año de vida. La mayoría de los casos de progeria son esporádicos, lo cual plantea la posibilidad de un patrón de herencia autosómico dominante por mutación de novo. El diagnóstico diferencial de esta entidad debe plantearse con cualquiera de los otros síndromes progeroides descritos en la literatura. Se presenta una revisión actualizada sobre el tema haciendo énfasis en la aproximación diagnóstica del cuadro