Cystic fibrosis newborn screening enables diagnosis of elder siblings of recalled infants--additional benefit.

The different clinical manifestations of cystic fibrosis, with variable intensity and timing, often delay the diagnosis of this genetic autosomal recessive disorder. Many countries have introduced newborn screening for cystic fibrosis to facilitate diagnosis prior to the development of the disease. The advantages and harms of such screening programmes are regularly reassessed. In the five families presented in this article the elder siblings of screened infants were diagnosed thanks to CF NBS. This is an example of a benefit for children not even directly covered by the screening programme, adding another CF NBS advantage to the balance

Bilateral sweat tests with two different methods as a part of cystic fibrosis newborn screening (CF NBS) protocol and additional quality control.

Infants with positive CF newborn screening (NBS) results are called to a CF Centre for verification. Those, in whom the sweat test is elevated, undergo further medical procedures. The aim of our study was to evaluate the applicability of Nanoduct - a new system measuring sweat conductivity and giving immediate results in a CF NBS protocol. Measurements with Nanoduct were compared with the classic pilocarpine method. During 3 years 487 infants from CF NBS had both sweat tests performed on the same day, at the same CF centre. CF infants had a mean conductivity of 99.8 Âą 1 8.8 mmol/L and a mean chloride concentration of 74.0 Âą 18.4 mmol/L. Non-CF infants values were 29.8 Âą 7.7 mmol/L and 19.2 Âą 6.6 mmol/L respectively. A good correlation between both tests was found (95% confidence level (CI); r=0.87). The optimal cut off, based on follow up experience of screened children, for conductivity tests was 50 mmol/L and for chloride concentration was 34 mmol/L (no lost CF, 11 false positive) with 100% sensitivity and 97.5 % specificity. In conclusion Nanoduct is a very useful and reliable tool in CF NBS protocol, allowing more time efficient organization of the diagnostic and training procedures. Simultaneous bilateral sweat testing with two different methods (concentration and conductivity) provides an extra quality control system

Outcomes of vitrectomy in severe complications of proliferative diabetic retinopathy

INTRODUCTION. The aim of our study is to describe the anatomical and functional results of pars plana vitrectomy (PPV) among diabetic patients treated due to tractional retinal detachment (TRD) or non-clearing vitreous haemorrhage (VH). MATERIALS AND METHODS. A retrospective analysis was made of clinical data of 45 eyes treated with 23G PPV for TRD (17 eyes) or VH (28 eyes). Preoperative and final visual outcomes and postoperative complications were recorded. The mean follow-up period was 12 months. RESULTS. The postoperative visual acuity (VA) improved significantly in 60% of eyes, but remained unchanged or was worse in 40%. Improvement of VA was more pronounced in the VH group. PPV was performed with silicone oil tamponade in 66.5%, air tamponade in 29%, and gas tamponade in 4.5%. Postoperative complications included: retinal re-detachment (seven eyes), secondary glaucoma (nine eyes), and recurrent VH (two eyes). CONCLUSIONS. PPV is an effective treatment method of complications of severe proliferative diabetic retinopathy inter alia the TRD and VH. Because surgical management of TRD and VH is demanding, anatomical and functional results are limited by complications.

Evaluation of antenatal quality of life of hospitalized women with the use of Mother-Generated Index – pilot study

Abstract Objectives: The objectives of this study included: 1. evaluation of the Polish version of Mother Generated-Index (MGI) as a tool for measuring antenatal Health Related Quality of Life (HRQL) of hospitalized women; 2. identification of factors influencing antenatal quality of life of hospitalized women; 3. assessment of correlations between MGI and SF-36v2, and between MGI and EQ-5D. Material and methods: MGI is a three-step questionnaire. Respondents were asked to name important areas of life that had been affected by their pregnancy (step 1) and then to assess, on the scale from 0 to 10, their positive or negative value (step 2). In Step 3, the women ranked the importance of the areas by allocating a total of 20 ‘spending points’ among them. The sub-index MGI1 is defined as the mean of the Step 2 scores, the sub-index MGI2 is defined as the weighted mean of Step 2 scores with weights given in Step 3. Using SF-36v2, EQ-5D, MGI questionnaires and socioeconomic survey we studied the HRQL of 99 pregnant women hospitalized in ICZMP in Łódź. Results: Sub-index MGI1 was included between 1.83 and 10 with mean 5.86 (SD 1.71). Sub-index MGI2 was between 0 and 10, with mean 6.70 (SD 2.34). Sub-indexes of MGI were significantly (

Prevalence of uterine malformations and their impact on fertility

Aim: Uterine malformations belong to the most common congenital abnormalities within the female reproductive system. Their mean prevalence in the general population is 2-4%. The incidence of uterine malformation leads to impaired fertility and a number of obstetric complications such as threatening preterm delivery, pelvic and transverse presentation, premature departure of amniotic fluid, intrauterine growth restriction, threatening rupture of the uterus, caesarean section. The aim of this review is to analyze the influence of an individual uterine malformation on female fertility. Material and methods: The study involved 124 women hospitalized at Research Institute of the Polish Mother’s Memorial Hospital in Lodz between the years 1994-2007. The patients were divided into 6 groups on the basis of the diagnosed defect. Results and conclusion: In our study, the most common defect was uterus bicornis, diagnosed in 46,7% of cases. The worst obstetric outcome was found among patients with septate uterus. The highest number of miscarriages and fertility problems occurs among those women. Nevertheless, there are positive data on the treatment of this defect. It would be recommendable to extend the diagnosis of the uterine malformations, especially in women with fertility problems, because early diagnosis and appropriate treatment allow to obtain satisfactory obstetric outcomes

West Nile Virus infection in perinatology

West Nile Virus causes one of the so-called emerging infectious diseases and is considered to be one of the major epidemic problems in many countries. Most of the WNV-infected-people do not develop clinical symptoms. Nevertheless, Infection with WNV can lead to severe neurological diseases, classically associated with West Nile fever. Among several neurological manifestations that have been observed, encephalitis is the most typical presentation. Transplacental passage is one of the confirmed transmission ways, but neonatal infection by breast feeding is also probable. Congenital WNV infection has been accompanied by bilateral chorioretinitis and severe malformation of the fetal central nervous system. At present, due to the lack of sufficient data, possibilities to conclude on the nature of the relationship between WNV infection and fetal malformations are limited

Advanced rectal cancer

W pracy opisano przypadek 42-letniego mężczyzny leczonego z powodu uogólnionego raka odbytnicy. Chorego początkowo zakwalifikowano do chemioterapii paliatywnej kapecytabiną, ale ze względu na gwałtowne pogorszenie stanu ogólnego podczas 4. tygodnia cyklu zmieniono leczenie na schemat FOLFIRI (irynotecan, leukoworyna, fluorouracyl - wlew 48-godzinny) i uzyskano po pierwszym cyklu znaczną poprawę. Ze względu na gwałtowny przebieg choroby zdecydowano dołączyć bewacyzumab, przy czym schemat chemioterapii zmieniono na IFL (irynotekan, leukoworyna, fluorouracyl - bolus). Uzyskano znaczną poprawę stanu ogólnego pacjenta z ustąpieniem wszystkich objawów choroby oraz obiektywną odpowiedź częściową (regresja zmian w płucach na podstawie badań obrazowych - 80%). Należy podkreślić bardzo dobrą odpowiedź na stosowany schemat chemioterapii.We present the case of a 42-year-old male patient treated for advanced rectal cancer. The treatment was initiated with capecitabine monotherapy with palliative intent, but in view of a dramatic progression during the fourth week of treatment cycle, chemotherapy regimen was changed to FOLFIRI (irinotecan, leucovorin, fluorouracil - 48 hours continuous infusion). By the end of the first treatment cycle a marked improvement was observed. Due to the aggressive course of disease we decided to change the chemotherapy regimen to IFL (irinotecan, leucovorin, fluorouracil - bolus) with bevacizumab. The patient's general condition improved markedly and all his symptoms resolved along with a partial objective response (80% regression of the lung lesions was observed on CT scan - partial remission). A spectacular response to chemotherapy regimen administered should be underlined

SARS-CoV infection and pregnancy

SARS is a highly contagious infection, caused by new coronavirus SARS-CoV. Immunopathological mechanisms responsible for the reaction to SARS-CoV infection have not yet been fully elucidated. Cytokine profile of SARS patients showed marked elevation of Th1 cytokine, interferon γ, inflammatory cytokines for at least 2 weeks after the onset of the disease. The clinical manifestation of SARS in patients has been of varied nature. Fever of more then 38°C, lasting more then 24 hours, is the most frequently encountered symptom. Other symptoms are non specific and they may include: sore throat, myalgia and nausea. The results of the radiologicalinvestigation may appear normal . Infants born to pregnant women with SARS did not appear to have acquired the infection through vertical transmission. However, direct contact with the maternal body fluid which contained SARS-CoV, has put the infants in great danger of perinatal infection. Ribavirin and corticosteroids are usually suggested for the treatment of SARS. However, the ribavirin therapy increases the risk of teratogenic effects in newborns of pregnant women with SARS. Therefore, the usage of this drug is not recommended during pregnancy and lactation