Confirmation of paternity despite three genetic incompatibilities at chromosome 2

DNA testing in cases of disputed paternity is a routine analysis carried out in genetic laboratories. The purpose of the test is to demonstrate similarities and differences in analyzed genetic markers between the alleged father, mother, and a child. The existence of differences in the examined loci between the child and the presumed father may indicate the exclusion of biological parenthood. However, another reason for such differences is genetic mutations, including chromosome aberrations and genome mutations. The presented results relate to genetic analyses carried out on three persons for the purposes of disputed paternity testing. A deviation from inheritance based on Mendel’s Law was found in 7 out of 53 STR-type loci examined. All polymorphic loci that ruled out the paternity of the alleged father were located on chromosome 2. Additional analysis of 32 insertion–deletion markers (DIPplex, Qiagen) and sequencing of 94 polymorphic positions of the single nucleotide polymorphism (SNP) type (Illumina, ForenSeq) did not exclude the defendant’s biological paternity. A sequence analysis of STR alleles and their flanking regions confirmed the hypothesis that the alleles on chromosome 2 of the child may originate only from the mother. The results of the tests did not allow exclusion of the paternity of the alleged father, but are an example of uniparental maternal disomy, which is briefly described in the literature

Acute subglottic laryngitis. Etiology, epidemiology, pathogenesis and clinical picture

In about 3% of children, viral infections of the airways that develop in early childhood lead to narrowing of the laryngeal lumen in the subglottic region resulting in symptoms such as hoarseness, a barking cough, stridor, and dyspnea. These infections may eventually cause respiratory failure. The disease is often called acute subglottic laryngitis (ASL). Terms such as pseudocroup, croup syndrome, acute obstructive laryngitis and spasmodic croup are used interchangeably when referencing this disease. Although the differential diagnosis should include other rare diseases such as epiglottitis, diphtheria, fibrinous laryngitis and  bacterial tracheobronchitis, the diagnosis of ASL should always be made on the basis of clinical criteria

Recommendations for the management of tuberculosis in children — KOMPASS TB. Part 1: Tuberculosis prevention

Since the second half of the 20th century the incidence of tuberculosis has been declining in Poland. Despite this, current epidemiological data still support the need for the continued mass BCG vaccination in Poland in the near future. Apart from the protection against severe hematogenous forms of tuberculosis, vaccination lowers the risk of infection with Mycobacterium tuberculosis. Primary and acquired immunodeficiency, including immunity disorders associated with an ongoing treatment, are contraindications to BCG vaccination. The most common adverse effects following BCG vaccination are reactions at the site of injection and in regional lymph nodes, which usually does not require treatment. Methods of tuberculosis prevention, particularly recommended in low-incidence countries, include: diagnostic investigations of patients who had contacts with pulmonary tuberculosis as well as an active detection and treatment of latent Mycobacterium tuberculosis infection. Latent tuberculosis infection can be identified on the basis of positive results of the tuberculin skin test or interferon-gamma release assays after the active disease has been ruled out. This condition does require prophylactic treatment

Risk factors of pelvic organ prolapsed in women qualified to reconstructive surgery – the Polish multicenter study

To evaluate the prevalence rate of various pelvic floor disorders among patients treated in 8 academic centers in Poland due to pelvic organ prolapse (POP). Results: The mean age of affected women with POP was 61,25 years (median 61), and mean BMI – 27.62 (median – 27.29). 80% of women were menopausal. Mean time of symptoms related to disease was 65,6 months; whereas the time relapsed from first doctor diagnosis of POP to hospital admission was 50.6 months. 97.4% affected women were multiparous. Only 1.21% women with POP were nulliparous. Family history of prolapse was found in 13.4% of patients, whereas familial positive history of urinary incontinence was 10%. Lower urinary tract symptoms (LUTS) among the analyzed group were as follows: frequency – almost 50%, urgency 32.2%, feeling of improper voiding – 29,6% and voiding difficulty – 17.7%. Functional disorders of lower bowel were found in 43% of patients and the most prevalent symptom was constipation (31%), followed by empting difficulty (12%), dyschesia (9%), and urge stool empting (7.7%). Cardiovascular diseases were found among 43% of respondents, whereas pulmonary diseases with chronic coughing were present in 20% of the analyzed population. Subjective POP symptoms reported by women were as follows: feeling of heaviness in lower abdomen – 37.8%, perineal pain – 27.8%, lumbosacral pain – 34.2%, and abdominal pain – 28.4%. Female sexual disorders were reported by 9,8% women and dyspareunia was found in 7.6% of responders. POP was the main reason for sexual abstinence only in 1 out of 10 patients. More than 30% of patients from the study group underwent previously pelvic surgery due to various reasons. POP related quality of life measured by VAS (Visual Analogue Scale) was 61.4 points (median – 60). The most common finding during gynecological examination was cystocele – 96.5%, followed by rectoenterocele – 92.7%, and central defect – 79%. Mean POP quantification was stage III in POP-Q scale. LUTS symptoms (urinary incontinence, urgency and voiding difficulties) were present among 81% of patients whereas lower gastrointestinal disorders (constipation, fecal incontinence, dyschesia) were found in 43% of women affected by POP

Rekomendacje postępowania w gruźlicy u dzieci — KOMPAS TB. Część 1 — profilaktyka gruźlicy

Od drugiej połowy XX wieku obserwuje się w Polsce systematyczny spadek liczby zachorowań na gruźlicę. Mimo to aktualne wskaźniki epidemiologiczne uzasadniają kontynuację powszechnych szczepień BCG w naszym kraju w najbliższych latach. Poza ochroną przed ciężkimi, krwiopochodnymi postaciami gruźlicy, szczepienie to zmniejsza ryzyko zakażenia prątkiem gruźlicy. Przeciwwskazania do szczepienia BCG to między innymi pierwotne i nabyte niedobory odporności, w tym zaburzenia immunologiczne związane ze stosowanym leczeniem. Do najczęstszych niepożądanych odczynów po szczepieniu BCG należą zmiany w miejscu szczepienia i zmiany odczynowe w lokalnych węzłach chłonnych, zazwyczaj niewymagające leczenia. Metody zapobiegania gruźlicy, szczególnie zalecane w krajach o niskiej zapadalności na tę chorobę, to: diagnostyka osób stykających się z chorym na gruźlicę płuc oraz aktywne wykrywanie i leczenie utajonego zakażenia prątkiem gruźlicy. Utajone zakażenie prątkiem gruźlicy rozpoznaje się na podstawie dodatnich wyników odczynu tuberkulinowego (OT) lub testu wydzielania interferonu gamma, po wykluczeniu gruźlicy aktywnej. Stan ten wymaga leczenia profilaktycznego.Od drugiej połowy XX wieku obserwuje się w Polsce systematyczny spadek liczby zachorowań na gruźlicę. Mimo to aktualne wskaźniki epidemiologiczne uzasadniają kontynuację powszechnych szczepień BCG w naszym kraju w najbliższych latach. Poza ochroną przed ciężkimi, krwiopochodnymi postaciami gruźlicy, szczepienie to zmniejsza ryzyko zakażenia prątkiem gruźlicy. Przeciwwskazania do szczepienia BCG to między innymi pierwotne i nabyte niedobory odporności, w tym zaburzenia immunologiczne związane ze stosowanym leczeniem. Do najczęstszych niepożądanych odczynów po szczepieniu BCG należą zmiany w miejscu szczepienia i zmiany odczynowe w lokalnych węzłach chłonnych, zazwyczaj niewymagające leczenia. Metody zapobiegania gruźlicy, szczególnie zalecane w krajach o niskiej zapadalności na tę chorobę, to: diagnostyka osób stykających się z chorym na gruźlicę płuc oraz aktywne wykrywanie i leczenie utajonego zakażenia prątkiem gruźlicy. Utajone zakażenie prątkiem gruźlicy rozpoznaje się na podstawie dodatnich wyników odczynu tuberkulinowego (OT) lub testu wydzielania interferonu gamma, po wykluczeniu gruźlicy aktywnej. Stan ten wymaga leczenia profilaktycznego

Symbiosis in industry. Basic problems of eco-industrial parks

The main goal of sustainable development is to make the whole anthroposphere friendly to the ecosphere and to lead to full cooperation between them. This type of activities undertakes industrial ecology. One of the fields of industrial ecology interest is a cooperation of enterprises with the aim of decreasing of the anthropogenic pressure on the environment. The way to do that is to set up a sort of ecosystems from the man made elements. Symbiotic connections between them are the first steps on this way. Symbiosis in its common sense is a co-action between two organisms - subjects in broadened meaning - with their mutual benefit. The same occurrence may take place in the industrial sphere. Consequently one can recognize an industrial unit as an ecosystem. Building such ecosystems within industrial subjects is not an easy task because of a variety of interacting elements. While building sucha system several aspects of activity of production and service units must be taken into account managing, technical, operational, psychological, landscaping, social, law and other problems. Basically there are two patterns of originating symbiotic connections: a spontaneous process between enterprises and a process stimulated by an external initiator e.g. local authority, business association. Developing industrial symbiosis is subjected to severa} conditions. One of them is a distance between particular subjects. Situation when production units are placed in proximity is the most conducive. So that, the most suitable place for an evolvement of the idea of industrial symbiosis appears to be an industrial park (IP). IP is a well-defined area where several enterprises act under particular regulations. In generał there are two situations when IP is considered: an already existing park and a park in the course of an establishing. In the first case the IP is often placed on premises of an bankrupted enterprise. In the second one the proprietor breaks up the land into lots, and encourages potentia! investors. In both cases creation of symbiotic connections encounters manifold problems. The fundamental one is how to introduce symbiosis into an industrial park. An IP with a developed symbiotic network can be recognized as an eco-industrial park (EIP). When planning EIP it is necessary to take into account a set of factors that one can classify as juridical, technical, economical, environmental, social, organizational etc. Synergy in the whole operational sphere is the most important advantage of the undertaking. Enterprises voluntarily joint to establish symbiotic relationships, constitute a kind of eco-overlap in an industrial park but still it could be recognized as an EIP. Symbiotic network within an IP increases a complexity of the system, which is perceived by participants as a difficulty. Confidence may alleviate the inconvenience. Beside of that there are several obstacles to symbiotic connections development. Superficial understanding of sustainability constitutes a real barrier to symbiosis

Use of arbuscular mycorrhiza in organic farming

Arbuscular mycorrhiza is symbiosis formed between host plant and soil fungi. Mycorrhiza helps the plant grow, facilitates access to nutrients, protects against the harmful effects of pathogens. Its widespread use attracted both scientists and farmers. Over time, it was noted that the presence of arbuscular mycorrhiza reduces the need for fertilizing plants. This has been used in ecological agriculture - as an alternative to intensive agriculture degrading the environment. Subsequent research proved only a positive impact on both partners. With the development of organic agriculture began to pay greater attention to the quality of the soil. Concluded that the quality of the soil increases with soil biodiversity. However, concern for biodiversity requires proper management of natural resources. Only use of arbuscular mycorrhiza minimizing fertilizer and crop rotation provide appropriately selected the most productive agricultural ecosystems.Mikoryza arbuskularna jest symbiozą pomiędzy rośliną - gospodarzem a grzybem mikoryzowym. Mikoryza pomaga roślinie wzrastać, ułatwia dostęp do składników odżywczych, ochrania ją przed szkodliwym wpływem patogenów. Jej szerokie zastosowanie zainteresowało zarówno naukowców jak i rolników. Z upływem czasu zauważono, że obecność mikoryzy arbuskularnej obniża potrzebę nawożenia roślin. Znalazło to zastosowanie w rolnictwie ekologicznym – jako alternatywie dla degradującego środowisko rolnictwa intensywnego. Kolejne badania dowodziły tylko pozytywnego wpływu mikoryzy na obu partnerów. Natomiast wraz z rozwojem rolnictwa ekologicznego zaczęto zwracać większą uwagę na jakość gleby. Uznano, że jakość gleby wzrasta wraz ze wzrostem bioróżnorodności gleby. Jednakże dbałość o bioróżnorodność wymaga odpowiedniego gospodarowania zasobami naturalnymi. Dopiero zastosowanie mikoryzy arbuskularnej, zminimalizowanie nawożenia oraz odpowiednio dobrany płodozmian zapewniły największą produktywność ekosystemów rolnych

The evaluation of the possibilities of using individual gametes qualities to personal identification in mammals using the example of mice and stallions

Pomiary morfologiczne plemników mają bardzo szerokie zastosowanie w badaniach nad przyczynami bezpłodności. Ocena kształtu plemnika może być czynnikiem decydującym o wykorzystaniu gamety do metod wspomaganego zapłodnienia lub procesu sztucznego zapłodnienia (in vitro) zarówno u ludzi, jak i u zwierząt.W pracy podjęto próbę określenia czy da się zindywidualizować osobniki na podstawie analizy morfologicznej ich plemników. Do realizacji tego celu wykorzystano 17 rozmazów z ejakulatów różnych ogierów oraz 16 rozmazów nasienia pochodzące od samców myszy (po 4 preparaty od jednego osobnika) stada niekrewniaczego i 8 rozmazów od samców myszy (po 4 preparaty od jednego osobnika) ze szczepów wsobnych. Ocenie poddano wybrane parametry morfologiczne główek plemników u myszy szczepów wsobnych i ogiera: długość, szerokość, powierzchnia całkowita, natomiast u myszy ze stada outbred: długość, szerokość w połowie długości, szerokość maksymalna, powierzchnia całkowita.Analiza wymienionych parametrów wykazała istotne statystycznie różnice w obrębie ejakulatów ogierów, myszy heterozygotycznych oraz pomiędzy szczepami wsobnymi. Wyniki niniejszych analiz mogą sugerować kolejny kierunek w badaniach związanych z morfologią plemników – indywidualizacją osobników na podstawie próbek nasienia.Sperm morphology measurements are widely used in research on the causes of infertility. Shape rating of the sperm may be a factor in determining the use of gametes for assisted fertilization method or the process of artificial insemination (in vitro) in both humans and animals.The study attempts to determine whether it is possible to individualize individuals on the basis of morphological analysis of their own sperm. To realize this purpose the 17 smears from ejaculates of different stallions and 16 sperm smears derived from male mice (four preparations from one animal) from an outbred herd and 8 semen smears from male mice (4 each from one individual) inbred strains were examined. Selected sperm head morphology parameters were evaluated in inbred mouse strains and stallion: length, width, total area, while the mice in the outbred herd: length, width half length, maximum width, the total area.The analysis of these parameters showed statistically significant differences within stallion ejaculates, heterozygous mice and between inbred strains. The results of these analyzes may suggest another direction in the study of sperm morphology - individualization of individuals on the basis of semen samples