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1.
J Assist Reprod Genet ; 39(2): 357-367, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35079943

ABSTRACT

Spontaneous abortion occurs in 8-20% of recognized pregnancies and usually takes place in the first trimester (7-11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We present the results of oligonucleotide array application in a cohort of 62 miscarriage cases. The inclusion criteria for the study were the loss after 8th week of pregnancy and the appearance of recurrent miscarriages. DNA was extracted from trophoblast or fetal skin fibroblasts. In the 62 tested materials from recurrent miscarriages, the detection rate was 56.5% (35/62). The most commonly found were aneuploidies (65%) (chromosomal trisomy 14, 16, 18, 21, and 22), Turner syndrome, and triploidy (17.1%). Other chromosomal abnormalities included pathogenic and likely pathogenic structural aberrations: 1) pathogenic: deletion 7p22.3p12.3 and duplication 9p24.3p13.2 inherited from the normal father, deletion 3q13.31q22.2 and deletion 3q22.3q23 of unknown inheritance and duplication of 17p12 inherited from father with foot malformation; 2) likely pathogenic variants: deletion 17p13.1 inherited from normal mother, deletion 5q14.3 of unknown inheritance and de novo deletion 1q21.1q21.2. Among these aberrations, six CNVs (copy number variants) were responsible for the miscarriage: deletion 7p22.3p12.3 and duplication 9p24.3p13.2, deletion 3q13.31q22.2 and deletion 3q22.3q23, and deletion 17p13.1 and deletion 1q21.1q21.2. Other two findings were classified as incidental findings (deletion 5q14.3 and 17p12 duplication). Our research shows that 17% of the aberrations (6/35 abnormal results) that cannot be identified by the routine kariotype analysis are structural aberrations containing genes important for fetal development, the mutations of which may cause spontaneous abortion.


Subject(s)
Abortion, Habitual , Chromosome Aberrations , Abortion, Habitual/genetics , Comparative Genomic Hybridization , DNA Copy Number Variations/genetics , Female , Humans , Pregnancy , Trisomy
2.
Ann Agric Environ Med ; 24(2): 222-228, 2017 May 11.
Article in English | MEDLINE | ID: mdl-28664698

ABSTRACT

[b]Abstract Introduction[/b]. Functional food plays an important role in the prevention, management and treatment of chronic diseases. One of the most interesting techniques of functional food production is extrusion-cooking. Functional foods may include such items as puffed cereals, breads and beverages that are fortified with vitamins, some nutraceuticals and herbs. Due to its pharmacological activity, chamomile flowers are the most popular components added to functional food. OBJECTIVE: Quantitative analysis of polyphenolic antioxidants, as well as comparison of various methods for the extraction of phenolic compounds from corn puffed cereals, puffed cereals with an addition of chamomile (3, 5, 10 and 20%) and from [i]Chamomillae anthodium. [/i] [b]Materials and Methods[/b]. Two modern extraction methods - ultrasound assisted extraction (UAE) at 40 °C and 60 °C, as well as accelerated solvent extraction (ASE) at 100 °C and 120 °C were used for the isolation of polyphenols from functional food. Analysis of flavonoids and phenolic acids was carried out using reversed-phase high-performance liquid chromatography and electrospray ionization mass spectrometry (LC-ESI-MS/MS). [b]Results and Conclusions[/b]. For most of the analyzed compounds, the highest yields were obtained by ultrasound assisted extraction. The highest temperature during the ultrasonification process (60 °C) increased the efficiency of extraction, without degradation of polyphenols. UAE easily arrives at extraction equilibrium and therefore permits shorter periods of time, reducing the energy input. Furthermore, UAE meets the requirements of 'Green Chemistry'.


Subject(s)
Chamomile/chemistry , Chemical Fractionation/methods , Food Additives/isolation & purification , Plant Extracts/isolation & purification , Polyphenols/isolation & purification , Chemical Fractionation/instrumentation , Chromatography, High Pressure Liquid , Food Additives/analysis , Food Analysis , Functional Food/analysis , Plant Extracts/analysis , Polyphenols/analysis , Tandem Mass Spectrometry , Zea mays/chemistry
3.
Article in English | MEDLINE | ID: mdl-16145954

ABSTRACT

The major causes of deaths all over the world are circulatory system diseases, neoplasms and injuries. Each man can become a participant of the event which results in life-threatening emergencies and the most immediate possible actions are essential. The period of time for starting efficient life-restoration actions is very short, estimated at 4-5 minutes. Ambulance Service is a medical organization created to apply aid in life-threatening emergencies. The standards of the developed western countries determine the arrival time at 7-10 minutes from the call time. Both first-aid applied by the accident witnesses and efficient actions of ambulance service have significance for effective pre-hospital aid and increasing the chances of survival of people in need. The study analysed emergency records of the ambulance cars of the Regional Unit of Ambulance Service - Sródmiescie Station in Lublin in the year 2000. 3,723 calls were recorded. In 142 cases complete resuscitation actions were carried out due to circulatory and respiratory arrest. The records selected this way went through a detailed analysis. In 3.8% of the interventions of emergency teams the necessity of applying advanced life support was observed. The time of arrival at the scene, transport of the patient to the admission room as well as efficiency of resuscitation comply with the European standards. The efficiency of resuscitation actions estimated at 51.4% depended on the age of the patient, the cause of circulatory and respiratory arrest and ambulance arrival time. Taking up basic life support by witnesses of the event was observed in 2.8% of cases, in 8.5% aid was applied by the medical staff members who happened to be at the scene.


Subject(s)
Ambulances/statistics & numerical data , Cardiovascular Diseases/mortality , Emergency Medical Services/statistics & numerical data , Respiratory Insufficiency/mortality , Aged , Cause of Death , Cooperative Behavior , Female , First Aid/mortality , Humans , Male , Middle Aged , Poland/epidemiology , Survival Rate , Time and Motion Studies , Treatment Outcome
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