Genetic or nutritional disturbances in folate-related pathways and epigenetic interactions

Author(s):  
Daniel Leclerc ◽  
Rima Rozen
Teratology ◽  
1990 ◽  
Vol 41 (4) ◽  
pp. 405-413 ◽  
Author(s):  
R. L. Brent ◽  
D. A. Beckman ◽  
M. Jensen ◽  
T. R. Koszalka

1947 ◽  
Vol 25e (2) ◽  
pp. 53-85 ◽  
Author(s):  
J. N. Crawford ◽  
J. A. G. Reid

The authors present observations on nutritional disturbances that they made on Canadian troops over a period of 44 months, during which time they were prisoners of war in the hands of the Japanese. The presentation is made against a background of dietary intake, energy output, and intercurrent infection. The chronological sequence of the development of signs and symptoms is shown. The impression of the authors as to the specific deficiency involved in each of these is indicated, where such an impression exists. The effect of dietary deficiency upon the various systems is shown, and a composite picture of the deficiency syndrome is presented, with remarks upon various aspects of it. The response to minimal treatment is described.


PEDIATRICS ◽  
1958 ◽  
Vol 21 (6) ◽  
pp. 929-940
Author(s):  
Helen K. Berry ◽  
Betty S. Sutherland ◽  
George M. Guest ◽  
Barbara Umbarger

Three children with phenylketonuria between the ages of 2½ and 4½ years have been treated with three different diets low in content of phenylalanine during the past 18 months. In Diets I and III restriction of phenylalanine was accomplished by use of casein hydrolysates from which phenylalanine had been removed and other amino acids added. In Diet II intake of phenylalanine was limited by restriction of total intake of protein in the diet. Diets II and III were commercial preparations. All diets were fed in semisolid form combined with natural foods. After an initial period of hospitalization for regulation of intake of phenylalanine, treatment was carried out at home. Except during the early months of treatment intake of phenylalanine was not severely restricted. Nutritional disturbances were encountered as a result of apparent amino acid deficiencies in Diet I. Inadequate caloric intake and low intake of protein also contributed to poor nutritional status at one stage in the treatment. Biochemical abnormalities characteristic of phenylketonuria were improved when phenylalanine was restricted in the diets of the three children. All three showed improvement in motor ability, increased awareness, lengthened attention span, decreased tenseness and irritability. No change in mental status on objective testing was demonstrated. The improvement in behavior motor control, and ease of handling was such that the parents were unwilling for the children to receive diets with normal content of phenylalanine. This reaction of the parents should be taken into consideration whenever administration of a diet low in content of phenylalanine is considered.


1940 ◽  
Vol 7 (1) ◽  
pp. 20-32 ◽  
Author(s):  
A. R. Ronald

2021 ◽  
Author(s):  
Dana Samir Al Kudsi ◽  
Sara Zeyad Hamad ◽  
Hanan Mohamed Al Keldi ◽  
Abdelhamid Kerkadi ◽  
Abdelali Agouni ◽  
...  

Cardiometabolic risk (CMR) factors increase the likelihood of developing cardiovascular diseases (CVD). In Qatar, 24% of the total deaths are attributed to CVDs. Several nutritional disturbances have been linked to high risk of CVD. Many studies have discussed the effects of zinc (Zn) and copper (Cu) on CMR factors; however, evidence has been controversial. This investigated the association between CMR factors and the status of Zn, Cu, and Zn/Cu ratio. A total of 575 Qatari adults (≥18 years) were obtained from Qatar Biobank. Plasma levels of Zn and Cu were determined using inductively coupled plasma mass spectrometry (ICP-MS). Anthropometric data and CMR factors were determined using standard methods. Adjusted associations between minerals and CMR were estimated by logistic regression. The associations’ strength was tested using partial correlation. Zn was not strongly correlated (p-value˃0.01) or significantly associated with CMR factors and metabolic syndrome (MetS). Cu levels correlated positively with body mass index (BMI) (0.23; p˂0.001), pulse rate (PR) (0.18; p˂0.001), total cholesterol (0.13; p=0.01), and high-density lipoproteins (HDL) (0.27; p˂0.001); and negatively with diastolic blood pressure (DBP) (−0.13; p=0.01). High Cu significantly decreased the risk of MetS (0.121; p˂0.001). Furthermore, Zn/Cu ratio positively correlated with waist circumference (0.13; p=0.01), systolic blood pressure (0.13; p˂0.01), and DBP (0.14; p˂0.01); and negatively with BMI (−0.19; p˂0.001), PR (−0.17; p˂0.001), and HDL (−0.27; p˂0.001). High Zn/Cu ratio increased the prevalence of low HDL (4.508; p˂0.001) and MetS (5.570; p˂0.01). These findings suggest that high Cu levels are associated with a protective effect on DBP, HDL, and MetS and that high plasma Zn/Cu ratio is associated with the risk of low HDL and MetS. We recommend future studies to focus on minerals status among abdominally obese and prediabetic subjects because of the probable link between low serum Zn and Cu and insulin resistance and CVD.


2018 ◽  
Vol 01 (01) ◽  
pp. 056-059
Author(s):  
Vineetha Raghu ◽  
Anita N. Nagadi ◽  
Ashwini Chethan Kumar

AbstractRapunzel syndrome is a rare disease in which a trichobezoar extends into the duodenum or distal small intestine. It is associated with compulsive eating of indigestible substances or pica and is more common in cases of underlying psychiatric disturbances. If left untreated, gastrointestinal bezoars with or without the Rapunzel syndrome may lead to several complications such as ulceration, perforation, peritonitis, pancreatitis, biliary obstruction, severe nutritional disturbances, and rarely intestinal obstruction. We present an exceptionally rare case of Rapunzel syndrome caused by a large cotton thread bezoar in an adolescent girl, associated with multiple jejunal intussusceptions. Further, we present a literature review of this entity. An interesting association of bezoar with intussusception is explained. Since a history of pica may not be forthcoming in all cases, it is important to be familiar with the imaging characteristics, complications, and management of bezoars.


1979 ◽  
Vol 38 (1) ◽  
pp. 143-150 ◽  
Author(s):  
M. E. J. Barratt ◽  
Patricia J. Strachan ◽  
P. Porter

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