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1.
Clin Genet ; 91(2): 322-327, 2017 02.
Article in English | MEDLINE | ID: mdl-27623744

ABSTRACT

The aim of the study was to evaluate the impact of a regional population-based genetic testing program on the incidence of ovarian cancer in West Pomerania. Between 1999 and 2010, a total of 37,552 women ages 35 to 70 were tested for three BRCA1 founder mutations at the outpatient genetics clinic of the Pomeranian Medical University in Szczecin, Poland. A total of 641 women were found to carry a mutation (1.7%) and of these, 220 had a prophylactic oophorectomy (34.3%). A total of 12 women had an occult cancer diagnosed at the time of prophylactic oophorectomy (5.5%). We estimate that 26 more ovarian cancers would have been diagnosed by January 2015 in the absence of these oophorectomies and that an additional 25 cancers will be prevented in the future (total 51). During this period, 1611 ovarian cancers were diagnosed in the region; therefore we estimate that approximately 1.6% of ovarian cancers were prevented between 1999 and 2015 by our genetic testing program. We conclude that the prophylactic oophorectomies performed between 1999 and 2010 as a result of widespread BRCA1 mutation testing have reduced the incidence of ovarian cancer in Pomerania by a small amount (about 1.6%), and that the impact of genetic testing will increase in the coming years.


Subject(s)
BRCA1 Protein/genetics , Genetic Predisposition to Disease , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/genetics , Adult , Aged , Female , Founder Effect , Humans , Middle Aged , Ovarian Neoplasms/pathology , Ovarian Neoplasms/surgery , Ovariectomy , Poland
5.
Probl Med Wieku Rozwoj ; 9: 107-31, 1979.
Article in Polish | MEDLINE | ID: mdl-263533

ABSTRACT

In the previous work published in No 7 of "Development Period Medicine" ( Problemy Medycyny Wieku Rozwojowego ) the results of nitrogen balance studies in S-f-D infants fed different milk formulas were described. The present study concerns other protein metabolism indices in the same infants. The infants were divided into four groups according to the formula they were fed. The composition of formulas is shown in table I. In the infants besides the balance study, serum urea nitrogen, protein and albumin level, were estimated once a month. Also urea, creatine and creatinine, and hydroxyproline in 24-hours urine collections were examined. Excretion of creatine, creatinine and hydroxyproline was summarized in 5 boys from the group of 38 investigated infants in the first five months of life when meat-free diet was fed. The above mentioned indices permit for better assessment of the effect of the diet on protein metabolism and the requirement of protein for S-f-D infants. The results of protein metabolism indices were compared with the indices obtained in F.S. infants similarly fed. Group S of S-f-D infants was compared with group A of F.S. infants and the other groups of S-f-D infants were compared with each other. In S-f-D infants fed formula S, a lower level of serum urea nitrogen was observed in comparison with F.S. infants of group A in spite of greater protein intake in S-f-D infants. This should prove a greater protein requirement in S-f-D infants. Decreased protein content and cow's milk fat modification also had profitable influence on protein utilization because serum urea nitrogen and nitrogen in urine were low in S-f-D infants fed this formula. Urine urea nitrogen as a part of total urine nitrogen is bigger in group S and C infants, and the lowest in group G infants (formula with lower fat and total protein content). Serum protein and albumin level was generally higher in S-f-D infants than in FS ones. Particularly high level of these parameters was observed in group G infants. The most regular behaviour of age trend versus protein and albumin level was observed in S-f-D infants fed formula H and C, fast increase of values was observed in the first half of life. In the S-f-D infants which were given formulas with decreased content of protein H and C group lower excretion of creatine was noted. As in FS infants, a gradual increase of creatine with age and body weight was stated. In 24-hour urine collection creatine excretion was lower, particularly in the infants daily creatinine excretion was positively correlated with body weight, body length and age.(ABSTRACT TRUNCATED AT 400 WORDS)


Subject(s)
Dietary Proteins/metabolism , Fetal Growth Retardation/metabolism , Infant Food , Infant Nutritional Physiological Phenomena , Infant, Small for Gestational Age , Age Factors , Animals , Blood Proteins/analysis , Blood Urea Nitrogen , Cattle , Creatine/urine , Creatinine/urine , Dietary Fats/administration & dosage , Female , Growth , Humans , Hydroxyproline/urine , Infant , Infant, Newborn , Male , Milk , Nitrogen/metabolism , Pregnancy
6.
Probl Med Wieku Rozwoj ; 9: 75-87, 1979.
Article in Polish | MEDLINE | ID: mdl-263544

ABSTRACT

The small-for-Date (S-f-D) infants are treated as high risk infants with regard to some metabolic disorders. Special attention should be paid to disorders of energy metabolism. The S-f-D infants already at birth showed the symptoms and results of intrauterine undernutrition, analogical to protein-calorie malnutrition in infants with postnatal dystrophy. The most important effect of intrauterine undernutrition influencing energy metabolism of S-f-D infants were discussed. Higher calorie requirement and higher calorie losses than in full-size (FS) infants were underlined. It was noted that proper feeding may, to a great extent, lessen the results of deficits in gestational age, as well as to increase the survival ability and assure the best possible physical and mental development. As the knowledge of energy metabolism in infants, particularly in those born with intrauterine undernutrition, is insufficient the studies of calorie balance were undertaken. The investigations were carried out in 26 infants observed longitudinally and crossectionally . All infants were fed ad libitum unmodified fat and protein cow's milk formulas containing glucose instead of saccharose in the first trimester and from second trimester gluten--free flour instead of wheat flour. Other meals were given according to obligatory scheme of infants' nutrition. The results of calorie balance studies were compared with the roper data of FS infants in I trimester and II semester of life, which were described in our previous paper. The results of fat an nitrogen balances were also taken into consideration. It was found, that the calorie intake in S-f-D infants is higher, particularly in first months of life, than in FS infants. It is closely related to the degree of intrauterine dystrophy. In this respect S-f-D infants behave similarly as the infants with postnatal dystrophy, which are capable to catch-up by increased calorie intake in answer to previous undernutrition. The calorie excretion in feces is significantly higher inthe first months of life in S-f-D infants.(ABSTRACT TRUNCATED AT 400 WORDS)


Subject(s)
Dietary Fats/administration & dosage , Energy Intake , Fetal Growth Retardation/diet therapy , Infant Food , Infant Nutritional Physiological Phenomena , Infant, Small for Gestational Age , Age Factors , Animals , Body Weight , Cattle , Dietary Carbohydrates/administration & dosage , Dietary Proteins/administration & dosage , Female , Flour , Glucose/administration & dosage , Humans , Infant , Infant, Newborn , Milk Proteins/administration & dosage , Nutritional Requirements , Pregnancy
7.
Probl Med Wieku Rozwoj ; 8: 47-55, 1979.
Article in Polish | MEDLINE | ID: mdl-263663

ABSTRACT

Fat excretion and absorption in 38 healthy S-f-D born infants fed on 4 kinds of diet, differentiated with regard to fat quantity and quality as well as protein quality, were examined by means of three 24 hour fat balances. Higher fat intake, higher fat excretion in feces and lower index of its absorption, typical of these infants, were observed. Differences in relation to the infants born with normal body-weight were particularly distinct in the first six months of life. It was noted that the quantity of fat excretion in feces was influenced by the degree of fetal malnutrition. An advantageous influence of fat modification, which consisted in partial replacement of cow-milk fat with vegetable oil (soya oil) on fat excretion and absorption, was shown. Feeding higher fat formulas--3 g/100 ml and modified protein were also considered advantageous. It was noted that S-f-D infants, even in cases of feeding with modified fat formulas, at the end of the first year of life did not reach such values of the absorption index as infants born with normal body-weight. The conception that the triglyceride structure differing from that in the breast milk is the factor deteriorating cow-milk fat absorption in the infants was suggested and discussed.


Subject(s)
Dietary Fats/metabolism , Fetal Growth Retardation/metabolism , Infant Food , Infant Nutritional Physiological Phenomena , Infant, Low Birth Weight , Age Factors , Animals , Cattle , Dietary Carbohydrates/administration & dosage , Dietary Fats/administration & dosage , Dietary Proteins/administration & dosage , Female , Humans , Infant , Infant, Newborn , Milk , Pregnancy , Glycine max
8.
Probl Med Wieku Rozwoj ; 9: 62-74, 1979.
Article in Polish | MEDLINE | ID: mdl-263665

ABSTRACT

In available literature the results of calorie balance studies carried out systematically during the whole first year of life have not been found. As the knowledge of energy metabolism in infants is still insufficient the longitudinal calorie balance studies of healthy infants as well as of infants with various alimentary tract disorders, and these born with low body weight were undertaken. In this paper the results of calorie balance studies in 15 healthy, full-term and full-size infants are presented. A three-day calorie balance investigations were carried out once a month after 5-10 days of adaptation to the diet. Caloric values of really consumed food, the quantity of calories excreted in faces and urine was determined in the ballistic calorimetric bomb using the method of Miller and Payne. The infants were divided into three groups according to the composition of the test formulas, which were given for the first six months of life. From the third week of life all infants were given juices and vitamins, from the fourth month vegetable soup. In the second semester of life all the infants were fed the same standard diet according to the scheme of artificial feeding in Poland. The test standard diet according to the scheme of artificial feeding in Poland. The test formulas were isocaloric and they differed mainly with protein quantity as well as fat quantity and quality: in two formulas the cow's milk fat was totally replaced with soya oil. The main parameters of calorie balance--calorie intake, calorie excretion in feces and in urine, the metabolizable energy in kcal/kg b.w./24 hrs and as percent of calorie intake were estimated. the relation of gain in weight to calorie intake and caloric efficiency of milk formulas used was counted. The results were presented in tables and figures. In the discussion the relationship between some parameters of calorie balance were evaluated, particularly the relation between calorie intake and gain in weight. According to the data from literature the caloric efficiency of formulas containing vegetable oils is higher than of the formulas containing unmodified cow's milk fat and the daily gain in weight of infants fed fat modified formulas is better. In our investigations there were no differences in the caloric efficiency of formulas used.(ABSTRACT TRUNCATED AT 400 WORDS)


Subject(s)
Energy Intake , Infant Food , Infant Nutritional Physiological Phenomena , Milk , Age Factors , Animals , Body Weight , Cattle , Dietary Carbohydrates/administration & dosage , Dietary Fats/administration & dosage , Dietary Proteins/administration & dosage , Energy Metabolism , Female , Humans , Infant , Infant, Newborn , Male , Oils/administration & dosage , Glycine max
9.
Probl Med Wieku Rozwoj ; 9: 88-106, 1979.
Article in Polish | MEDLINE | ID: mdl-263666

ABSTRACT

The influences of formula composition (more fat or carbohydrates as a source of energy) upon protein utilization and other indices of protein metabolism was studied. 15 healthy, full-size infants were divided into three groups K,L,M, five infants in every group according, to the formula given to them. The composition of formulas is shown in table I. In the second half of the first year of life all the infants were fed according to schema of infants nutrition obligatory in Poland, based on unmodified cow's milk formulas. In these infants, staying at the Clinical Department from 2 weeks until 12 months, once a month nitrogen balance study was carried out and serum urea nitrogen, serum protein and albumin level, urine urea nitrogen, creatine and hydroxyproline in urine were examined. Results of these studies allow for more exact assessment of diet influence on protein metabolism and body composition. The results of the 3 groups presented in the tables were compared using t-Student's test at the level of significance a = 0,05. In the second half of the first year of life investigations aimed at finding eventual influence of formulas given in he first six month of life on metabolism indices. Intake of protein in infants fed formulas K and L amounted to 2,5 g/kg b.w., but the indices of protein utilization were different. In infants fed the formula in which cow's milk fat was totally replaced by soya oil, digestibility index--Di % was higher, as well as NPU and NBI indices, and serum protein and albumin level. In the second half of the first year of life in those infants nitrogen intake as well as nitrogen absorption were higher, than in infants fed unmodified cow's milk fat formula. Too low content of fat formula (1 g of fat/100 g formula) and high content of protein (3 g/100 g formula) is not profitable in protein utilization and physical development indices. Protein intake in infants of group M was 3,3 g/kg b.w./24 hrs, protein utilization was poorer, serum urea nitrogen was higher, more urine urea nitrogen and total nitrogen in urine was excreted. In these infants, as in group L infants, the quantity of hydroxyproline were lower, which was reflected by poorer indices of physical development. It seems to us, that among three studied formulas formula K had the most profitable influence on the totally investigated infant protein metabolism indices.(ABSTRACT TRUNCATED AT 400 WORDS)


Subject(s)
Dietary Proteins/metabolism , Energy Intake , Infant Food , Infant Nutritional Physiological Phenomena , Animals , Blood Proteins/analysis , Blood Urea Nitrogen , Cattle , Creatine/urine , Creatinine/urine , Dietary Carbohydrates/administration & dosage , Dietary Fats/administration & dosage , Dietary Proteins/administration & dosage , Female , Humans , Hydroxyproline/urine , Infant , Infant, Newborn , Milk , Nitrogen/metabolism , Oils/administration & dosage , Glycine max , Urea/metabolism
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