7 research outputs found
A family case report of Neurofibromatosis
Neurofibromatosis is a genetic disease inherited in an autosomal, dominant manner. The course of von Recklinghausen’s disease varies from patient to patient. Most cases are mild and uncomplicated. The diagnosis of NF1 is based on the criteria of the National Institutes of Health (NIH). Type 2 neurofibromatosis is inherited, in most cases autosomal dominantly. The abnormal allele can be inherited from either parent, with the risk of passing the gene on to the offspring from the parent, being 50%. This article describes the familial form of neurofibromatosis. In the case in question, all three sisters were found to be mutated in the NF1 gene by genetic testing. In the same family, the clinical manifestation of the disease may be different for sisters and children. Due to compliance with medical recommendations, the disease does not significantly affect the quality of life of the families affected
Diastasis recti abdominis — a review of treatment methods
Diastasis recti abdominis is a condition in which both rectus abdominis muscles disintegrate to the sides, this being acÂcompanied by the extension of the linea alba tissue and bulging of the abdominal wall. DRA may result in the herniation of the abdominal viscera, but it is not a hernia per se. DRA is common in the female population during pregnancy and in the postpartum period. There is a scant knowledge on the prevalence, risk factors, prevention or management of the abovemenÂtioned condition. The aim of this paper is to present the methods of DRA treatment based on the results of recent studies
Optimization of the cosmetic appearance of skin scar after caesarean section — part I: obstetric practice
Caesarean section (CS) is a surgical way of child delivery by cutting the abdomen and uterus. Although compared to natural childbirth, it carries a greater risk of complications, the percentage of performed cuts is still increasing. The consequence of this procedure is the surgical skin scar. The appearance of this scar depends on many factors, including appropriate pre- and intraoperative procedure, operator skills and experience. The aim of the work is to present actions aimed at increasing the aesthetics of the skin scar after CS including pre-, intra- and postoperative procedures
Zaćma wrodzona
Cataract is an eye disease that means opacification of the lens of the eye leading to partial or total blindness. It is common and treatable cause of blindness in children [1]. The prevalence of cataract in children worldwide ranges from 1 to 15 per 10,000. In developed countries, the incidence is 1 to 3 per 10,000 [2]. Cataracts can be detected using a prenatal ultrasound scan performed between 18 and 20 weeks of pregnancy [3,4,5]. Early detection of cataracts and rapid intervention are crucial in the development of normal vision, especially in newborns [4]. The article presents a case report of intrauterine ultrasonographic diagnosis of congenital cataract. Zaćma, inaczej katarakta to choroba oczu polegająca na zmętnieniu soczewki i związaną z tym częściową lub całkowitą ślepotę . Jest ona często występującą uleczalną przyczyną ślepoty u dzieci[1]. Częstość występowania katarakty u dzieci na świecie wynosi od 1 do 15 na 10 000. W krajach rozwiniętych częstość występowania wynosi 1 do 3 na 10 000 [2]. Zaćma może zostać wykryta za pomocą prenatalnego badania USG wykonanego pomiędzy 18. a 20. tygodniem ciąży [3,4,5]. Wczesne wykrycie zaćmy i szybka interwencja mają kluczowe znaczenie w rozwoju prawidłowego widzenia, szczególnie u noworodków [4]. W artykule przedstawiono opis przypadku wewnątrzmacicznego ultrasonograficznego rozpoznania zaćmy wrodzonej.