Search PubMed⌕ Search

Biomedical subjects

A Dolezal

Publications and source records attributed to A Dolezal.

At least 19 recordsLinked to original sources
PubMed2004

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

INTRODUCTION: The increased level of phenylalanine (Phe) in maternal blood--hyperphenylalaninemia (mHPA) has a detrimental effect on the early development of healthy foetus (1965). The toxic effect causes spontaneous abortion or retards intrauterine growth, skeletal malformation, cardiac anomalies can appear. However the most frequent are microcephaly, mental retardation and hypotrophy. PATIENTS AND METHODS: Simultaneously with the introduction of obligatory "Newborn Screening Program" in CR also the facultative screening for mHPA was introduced ("Maternal Hyperphenylalaninemia Preventive Screening Program"). Since 1975 till now 222,990 healthy pregnant women (16-47 yrs) from city Prague and its area (cca 2 mil. inh.) have been screened for increased Phe in blood by Efron's chromatographic screening test (1964); Phe cut off value: 240 micromol/l. Nonfasting venous blood has been taken in 2nd-3rd month of pregnancy during the first antenatal visit. All positive cases have been verified with quantitative Phe estimation on amino acid analyzer incl. pterines analysis in urine. For differentiation of detected mHPAs the Güttler's scheme (1980) has been used. Mutations for Phe-hydroxylase gene analyzed by restriction enzyme digestion after Guldberg (1994). RESULTS: The average incidence of mHPA detected at the beginning of pregnancy was found 1:8675. The major part (65.3%) of all detected mHPA belongs to mild or moderate form of phenylketonuria (PKU) with most frequent PAH gene mutations R408W, Y414C, IVS11 nt8g-a, R158Q, IVS12ntlg-a and R261Q. 19.2% corresponds to atypical or classical PKU with prevailing mutation R408W. Only in 15.3% were detected non-PKU (persistent HPA) with mutations R408W, Y414C, IVS12ntlg-a, IV11nt8g-a and A403V. 28 offsprings born from pregnancies on low-phenylalanine diet (LPD) introduced at least 2 months before the conception and during the whole pregnancy show normal psychomotoric development. In 7 offsprings without LPD or after delayed introducing or on PLD or badly monitored showed malformations (microcephaly, hypotrophy, skeletal malformations) or died. DISCUSSION: Relatively high incidence of mHPA detected in healthy population of pregnant women of Prague area differs from findings of Buist (1989) or Levy (1994) from American pregnant women screened for mHPA from umbilical blood. We consider that screening performed at the beginning of pregnancy from nonfasting venous blood is more effective compared to umbilical blood from two reasons: the Phe level in maternal blood is increased during first trimester of pregnancy due to succing effect of placenta in comparison to decreased Phe level at the end of labour. Umbilical blood for screening of mHPA is not quite suitable to detect the atypical or mild forms of Phe disturbances which prevailed in our Slavonic population of pregnant women. (Tab. 5, Fig. 7, Ref. 16.)

Adolescent↗
PubMed2002

[Sexual life of women with hyperphenylalaninemia].

OBJECTIVE: Characteristics of sexual life in women with hyperphenylalaninemia. DESIGN: Anamnestic study. SETTING: Department of Obstetrics and Gynaecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of Clinical Biochemistry, Haemathology and Immunology of Hospital Na Homolce in Prague. METHODS: Characteristics of sexual life were studied in a group of 16 women with hyperphenylalaninemia. RESULTS: One fourth of the women lives without sex. In the rest of them sexual function is normal. CONCLUSION: One fourth of the women stays out of reproduction.

Adolescent↗
PubMed2002

[Anthropologic study of women with hyperphenylalaninemia].

OBJECTIVE: Anthropometric investigation in women with hyperphenylalaninemia. DESIGN: Retrospective clinical study. SETTING: Department of Obstetrics and Gynecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of clinical Biochemistry, Hematology and Immunology of Hospital Na Homolce in Prague. METHODS: 44 anthropometric and 12 anthroposcopic parameters were studied in a group of 16 women with reproduction normality. RESULTS: Smaller body heights, pathological body posture and dysplastic findings were found. CONCLUSION: Registered differences and dysplastic findings are motivating for studies in a larger group of women with hyperphenylalaninemia.

Adult↗
PubMed2000

[Homocysteinemia--its significance in gynecology and obstetrics].

OBJECTIVE: Metabolic study on plasmatic levels of homocysteine (Hcy) in healthy women during normal or pathological pregnancy accompanied with corresponding levels of Hcy in amniotic fluid and foetal sera. Increased levels of Hcy--hyperhomocysteinaemia is respected as an independent risk factor accelerating the early development of vessel damage and causing the neural tube defects (NTD). DESIGN: Basic study to get our own data about Hcy in Czech healthy and population at risk of pregnant and non-pregnant women. SETTING: Department of Obstetrics and Gynaecology, 1st Faculty of Medicine, Charles University, Prague. METHODS: Total homocysteine in plasma, amniotic fluid and foetal sera was estimated by chromatographic method with use of fluorescence detection. RESULTS: Normal homocysteine in preclimacteric healthy nonpregnant women is: 9.7 +/- 1.6 mumol/l with evident age-dependence. In healthy climacteric women are higher levels of Hcy (corresponding to the men values): 11.8 +/- 2.6 mumol/l. After use of hormonal contraceptives the plasmatic levels of Hcy decrease: 7.2 +/- 2.0 mumol/l. In physiological pregnancies Hcy reachs the lowest values: 4.4 +/- 1.7 mumol/l with any evident oscillations during pregnancy. In women in childbed period was Hcy 8.4 +/- 2.1 mumol/l observed. In pathological pregnanciesare its levels slightly elevated: 6.3 +/- 2.1 mumol/l, most evident in placental abruptions: 7.5 +/- 1.7 mumol/l. In pregnant women with susp. results of screening on M. Down only unsignificant increase of Hcy was observed: 6.12 +/- 2.4 mumol/l. In amnial fluids of healthy pregnant women are levels of Hcy are quite low: 4.1 +/- 1.2 mumol/l with any oscillations during pregnancy. In foetal sera of pregnancies at risk (NTD, susp., trisomy, inborn errors of metabolism): 3.6 +/- 1.4 mumol/l of Hcy was detected. The foetoplacental quotient for Hcy is 0.62. CONCLUSION: Average values for Hcy were established in physiological as well as in pathological pregnancies and till now only limited diagnostic significance has been observed. The hyperhomocysteinaemia mentioned in previous papers was not in NTD observed because our pregnant patients were regularly supplemented with all critical vitamins (folate, B6, B12).

Adolescent↗
PubMed1999

[Cesarean section and perinatal mortality 1993-1996 in a regional perinatology center].

During the period between 1993-96 the authors made at the Second Gynaecological and Obstetric Clinic 1099 caesarean sections. The investigated group was subjected to frequency analysis. The relationship with perinatal mortality and early neonatal mortality was assessed. In a group of 287 caesarean sections in 1996 the authors analyzed indication spectra and maternal morbidity. The results were compared with data in the literature. From the assembled data ensues that although the rate of caesarean sections practically does not change, perinatal mortality decreased significantly. This positive result is due mainly to better perinatal and neonatological care. In the indications for caesarean section the authors did not reveal statistically significant deviations from nationwide average figures.

Cesarean Section↗
PubMed1997

[Is the anti-selection initiative in reproductive medicine anti-biological?].

The human reproduction has the monotocial element of K strategy (nidifungous) with mature newborn mammals and also of the r strategy (nidiculous) with immature mammals. There are questions about "contra naturam" antiselective practice in the treatment of extremely premature newborns. Allometric equations were calculated form 93 species of mammals: Mneo = 0.03374 M0.946 and Gt = 68.536 M0.225 (Mneo is the body weight of newborns in kg, M is the body weight of the female in kg and Gt is the gestational period in days). According to these allometric equations the birthweight of newborns is from 1100 g to 1600 g and gestational age is from 22.4-24.5 weeks of gestation. The data from comparative zoology are in conformity with requirements of neonatologists to receive prematurity without further intra intrauterine pathologies. The postnatal care taken after extremely premature newborns replaces adaptive mechanisms which are present in immature mammalian newborns of r strategy. The neonatological practice has decreased the viability level to 24 weeks of gestation during the last 20 years. Further lowering to 22 weeks is possible in the near future.

Adaptation, Physiological↗
PubMed1997

[Activity of the 2nd Clinic of Gynecology and Obstetrics from its founding to the end of World War II (1920-1945)].

History of the IInd Gynaecological and Obstetric Clinic of 1st Faculty of Medicine, Charles University in Prague is recorded here from its establishment in 1920 to the end of World War II. The activities of the Clinic are depicted in characterization of prominent personalities who worked here in this period. The characterization is focussed mostly on head physicians and their clinical, pedagogical and scientific activities and their works published.

Czech Republic↗
PubMed1996

[Maternal hyperphenylalaninemia in a population of healty Czech women. 18 years' experience with mass screening, diet therapy and metabolic monitoring].

BACKGROUND: Elevated phenylalanine levels in maternal blood (hyperphenylalaninaemia) during pregnancy damages the developing foetal tissues. Early detection of pregnant women with hyperphenylalaninaemia and adherence to a low phenylalanine diet already before conception and throughout pregnancy can prevent this damage. The objective of the investigation are results achieved screening and strict monitoring of low phenylalanine dietetic treatment in detected pregnant women of the Prague population. METHODS AND RESULTS: 186 350 healthy women of the Prague population were examined by the chromatographic screening test in a venous blood sample during their first visit in a maternity welfare centre and 22 positive cases were detected (incidence 1:8470). In 86% mild, persistent or benign forms of phenylketonuria were involved. Nineteen patients were treated by a low phenylalanine diet and the phenylalanine tolerance was monitored as well as the nitrogen balance, amino acids in serum and urine, protein markers, trace elements, vitamins, lipids, the body mass index-BMI, changes of body weight after introduction of the dietetic treatment and treatment during pregnancy. A significant increase of the phenylalanine tolerance by 20 to 200% was found, mostly in the second half of pregnancy and reduced values of serum and urinary selenium. The decrease of body weight when the diet was introduced and the increment during pregnancy correlated with the BMI value. In the other investigated parameters no significant deviations were found. CONCLUSION: Fifteen healthy children with normal psychomotor development delivered by 12 mothers with hyperphenylalaninaemia provide evidence of the effectiveness of prenatal screening for hyperphenylalaninaemia during pregnancy.

Adolescent↗
PubMed1996

A new glucose sensor for use in whole blood.

Existing electrochemical glucose sensors are either single use sensors produced in mass fabrication technologies or rather big sensors for multiple use with membranes to be changed frequently. Single use means no sensor maintenance but has the disadvantage that quality control measurements cannot be done with the same sensor used for the sample. Generally also the cost per test is relatively high. Multiple use sensors give the possibility of closer quality control and they are generally cheaper than the single use sensors for higher sample frequency but have the disadvantage of frequent need of remembraning. This often means special training and is a health risk due to sensor contamination by biological fluids. We combined the advantages of both principles meaning that we developed a new glucose sensor for multiple use in an essentially planar technology - thus being able to be produced very cheap. The underlying basic working principle is using glucose oxidase and detecting hydrogen peroxide. Due to the carbon base of the sensor it has a large surface area and therefore a very high sensitivity (microamps range at biological glucose concentrations) although the sensor itself is very small needing only about 10 microL of sample. The sensor shows a linear range of up to 40 mmol/L, a life time in use of far more than 1000 human serum samples and correlation coefficients between plasma and whole blood of r = 0.99. Interferences are well within clinical acceptability. Thus we conclude that this sensor works well in undiluted human body fluids and due to the very cheap production processes the whole sensor can be exchanged when it is old thus eliminating any need for remembraning or special maintenance.

Blood Glucose↗