Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. In view of the diagnostic challenges, we studied the clinical, neuroradiological, and biochemical features of 15 patients (11 females and 4 males) with SLC35A2-CDG from various centers. We describe nine novel pathogenic variations in SLC35A2. All affected individuals presented with a global developmental delay, and hypotonia, while 70% were nonambulatory. Epilepsy was present in 80% of the patients, and in EEG hypsarrhythmia and findings consistent with epileptic encephalopathy were frequently seen. The most common brain MRI abnormality was cerebral atrophy with delayed myelination and multifocal inhomogeneous abnormal patchy white matter hyperintensities, which seemed to be nonprogressive. Thin corpus callosum was also common, and all the patients had a corpus callosum shorter than normal for their age. Variable dysmorphic features and growth deficiency were noted. Biochemically, normal mucin type O-glycosylation and lipid glycosylation were found, while transferrin mass spectrometry was found to be more specific in the identification of SLC35A2-CDG, as compared to routine screening tests. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, our data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2.

[Analysis of pregnancy and labor course in patients after preterm premature rupture of membranes]. / Analiza przebiegu ciazy i porodu po przedwczesnym peknieciu pecherza plodowego w ciazy niedonoszonej.

OBJECTIVE OF THE STUDY: The aim of this study was to compare the pregnancy and labor course in patients hospitalized due to PROM in relation to patients with membrane rupture at term of labor. MATERIALS AND METHODS: The study group consisted of 70 gravidas hospitalized in the Department of Pathological Pregnancy. The control group consisted of 70 patients. Special attention was paid to: time of PROM, pregnancy outcome and mode of delivery, obstetrical history, the symptoms of intrauterine infection. CONCLUSIONS: 1. The ascending infection after PROM was the most common indication for pregnancy termination. 2. There is a significant difference in pathological obstetrical history between patients hospitalized due to PROM and control group. 3. There is no significant difference in mode of delivery between study and control group.

[Assessment of mothers' knowledge about breastfeeding]. / Ocena znajomosci zagadnien zwiazanych z karmieniem piersia wsród poloznic.

OBJECTIVES: The aim of this study was to assess the level of knowledge of problems referring to breastfeeding among women in childbirth. MATERIALS AND METHODS: The study was based on a questionnaire, which consisted of 20 questions with multiple choice answers. 108 women in puerperium were surveyed-54 in the Obstetrical Ward in Puck and the same number in the I Clinic of Obstetrics and Gynaecology in Warsaw. The results were analysed according to age, education and attendance to labour school. Statistical analysis was performed afterwards. RESULTS: For all the surveyed women, breastfeeding is a natural need and an important element of the emotional bond with a newborn. For 78.7% of the women questioned, the priority of breastfeeding was the health of their baby, 16.7% point to the advantages of the optimal composition of human milk, 37% of mothers found breastfeeding convenient. On the other hand, 37% consider artificial milk only a substitute. For 60% of women magazines were the source of education, books 53.7%, acquaintances and family 32.4%. Only a small percentage (24.1%) of women took advantage of labour classes, although it is an extremely successful method of teaching. 17.6% of women were not looking for any information about breastfeeding during the pregnancy. CONCLUSIONS: Differences in preferences and level of knowledge between women from big and small centre were shown, although there was no difference in access to it. Magazines and books, not medical staff, were the most popular source of information. The level of knowledge depends on education and labour class attendance. It seems that the system of lactational guidance should be extended on obstetrical wards, concentrating especially on women with poorest education.

Management and treatment of HIV infected pregnant women in Poland.

Currently, in Poland the number of women infected by human immunodeficiency virus (HIV) is still increasing. The majority of them are in the reproductive age. It is well known that mother-to-child transmission of HIV can occur during pregnancy, delivery and postnatally through breastfeeding. The risk of transmission is related to maternal health, obstetric factors and infant prematurity. The management of pregnant women infected with HIV in Poland involves: recognizing HIV infection early by promoting HIV testing of all pregnant women; minimizing the risk of vertical transmission of HIV by using maternal antiretroviral therapy during pregnancy and labour, followed by six weeks of neonatal zidovudine therapy and performing elective caesarean section. Adequate care requires also specialized laboratory monitoring and appropriate psychological and social support. Some modifications of standards in routine care of pregnant HIV seropositive women are necessary. For HIV infected women more attention to pre-conception counselling should also be paid.