Janusz Sierdziński

BACKGROUND: Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the natural history of the disease. The aim of this study is to describe patients included in the Polish Registry of SMA, with a focus on the course of type 3 SMA (SMA3) before the availability of disease-modifying treatments. RESULTS: 790 patients with SMA were included in the registry (173 with type 1 [SMA1], 218 with type 2 [SMA2], 393 with SMA3, and six with type 4 SMA [SMA4]), most (52%) of whom were adults. Data on SMN2 gene copy number were available for 672 (85%) patients. The mean age of onset was 5 months for SMA1, 11.5 months for SMA2, and 4.5 years for SMA3. In patients with SMA3, the first symptoms occurred earlier in those with three copies of SMN2 than in those with four copies of SMN2 (3.2 years vs. 6.7 years). The age of onset of SMA3 was younger in girls than in boys (3.1 years vs. 5.7 years), with no new cases observed in women older than 16 years. Male patients outnumbered female patients, especially among patients with SMA3b (49 female vs. 85 male patients) and among patients with SMA3 with four copies of SMN2 (30 female vs. 69 male patients). 44% of patients with SMA3 were still able to walk; in those who were not still able to walk, the mean age of immobilization was 14.0 years. Patients with SMA3a (age of onset < 3 years) and three copies of SMN2 had significantly worse prognosis for remaining ambulant than patients with SMA3b (age of onset ≥ 3 years) and four copies of SMN2. CONCLUSIONS: The Registry of SMA is an effective tool for assessing the disease course in the real world setting. SMN2 copy number is an important prognostic factor for the age of onset and ambulation in SMA3. Sex and age of disease onset also strongly affect the course of SMA. Data supplied by this study can aid treatment decisions.

BACKGROUND: Prior studies suggested that obstructive sleep apnea (OSA) promotes recurrence of arrhythmia in patients after atrial fibrillation (AF) ablation. METHODS: In this prospective, long-term, observational study, we enrolled 290 consecutive patients admitted for AF ablation. Prior to the ablation, all patients underwent a polygraphy sleep study for the diagnosis of OSA. After the procedure, patients were followed up for mean time of 30 months for AF reoccurrence. OSA was diagnosed when apnea-hypopnea index (AHI) was ≥5. Patients were subsequently divided into groups according to the OSA severity: mild OSA (AHI 5-15/h), moderate OSA (AHI >15 and ≤30/h), and severe (AHI >30/h). RESULTS: After excluding patients disqualified from the procedure, and those with central sleep apnea, the study population consisted of 251 patients, mean age 57.6 years [163 (64.9%) male]. OSA was present in 115 (45.8%) patients, while in 137 (54.6%) cases, we observed reoccurrence of AF. Recurrence was more often in patients with, than without, OSA (65.2 vs. 45.6%; p = 0.003). We also observed that along with rising OSA severity rose also the number of patients in whom AF was detected during the follow-up period (45.6 vs. 66.2 vs. 57.6 vs. 81.8%; p = 0.005; for non-OSA, mild, moderate, and severe, respectively). CONCLUSIONS: OSA is highly prevalent in AF patients. The presence of OSA lowers chances on successful AF ablation. Early screening, and treatment for OSA in AF patients, may improve low success rates of AF ablation procedures.

The COVID-19 pandemic outbreak influenced general and mental health worldwide. The objective of this study was to assess the anxiety level during the COVID-19 pandemic among pregnant women and compare it between COVID-infected and non-infected groups. We prospectively assessed the daily routine and anxiety level using a bespoke questionnaire and GAD-7 scale validated for pregnant women. With logistic regression, we established possible risk factors of generalized anxiety disorder spectrum and main causes of concern. The dataset included 439 responders of our survey. Of which, 21% had COVID-19 infection during pregnancy; 38% were screened for possible generalized anxiety disorder and the proportion was higher in women who suffered from COVID-19 (48% vs. 35%, p = 0.03). Pre-pregnancy anxiety or depression diagnosis and intentional social contact avoidance increased the risk of anxiety (aOR 3.4 and 3.2). Fetal wellbeing was the main concern for 66% of the responders. The COVID-19 pandemic and related restrictions substantially altered daily lives of pregnant women, exaggerating the prevalence of anxiety compared with the pre-COVID-19 studies (38% vs. 15%). COVID-19 infection during pregnancy was associated with increased levels of generalized anxiety scores. Patient-tailored psychological support should be a mainstay of comprehensive antenatal medical care in order to avoid anxiety- and stress-related complications.

BACKGROUND: Reproductive health is a part of a comprehensive definition of complete physical, mental and social well-being. Sex education is an important aspect of public health. Ignorance, due to the lack of sex education leads to risky sexual behaviors. METHODS: Our cross-sectional study was aimed at investigating a representative group of Polish women's knowledge about the physiology of the menstrual cycle, contraceptive methods, infertility and cervical cancer prevention. The data were collected by face-to-face interviews and an anonymous electronic questionnaire. RESULTS: The study group involved 20,002 respondents. Most of the women were of reproductive age (mean 27.7), parous (60.8%), of higher education (71%) and living in large cities (> 500 k citizens, 36.8%). 62.2% of the women gave correct answers to at least 5 of 7 questions concerning the physiology of the menstrual cycle. Three factors had a significant influence on the number of correct answers: higher education (p = 0.0001), more frequent gynecological appointments (p = 0.0001) and living in a larger city (p = 0.002). Women of higher education level had more often used some form of contraceptive method previously (87% vs. 78.4%, p = 0.001), recommended natural family planning methods to their peers (18.4% vs. 15%, p = 0.001) and regularly attended gynecological appointments (85.7% vs. 78.8%, p = 0.001) when compared with those women with lower educational levels. The three most effective contraceptive methods identified by respondents were: oral contraceptives (71.1% answers), intrauterine devices (50.2%) and parenteral hormonal contraceptives (30.4%). The effectiveness of natural family planning was more often emphasized by women who had never used any contraceptives before (20.1% vs 6.7%). Most of the participants (80.8%) believed that in-vitro fertilization is an effective infertility treatment and should be reimbursed in Poland. Also, 95.2% of the respondents reported that they had undergone a Papanicolaou test within the past 3 years, but only 3% of these women were aware of all the risk factors for cervical cancer mentioned in our survey. CONCLUSIONS: It is very important to improve comprehensive reproductive health education in Poland, especially among women of lower educational levels and living in small centers. In future, educational programs and gynecologists should focus on implementing and improving these aforementioned issues.

Urinary tract infections (UTIs) are one of childhood’s most common bacterial infections. The study aimed to determine the clinical symptoms, laboratory tests, risk factors, and etiology of different UTIs in children admitted to pediatric hospitals for three years. Methods: Patients with positive urine cultures diagnosed with acute pyelonephritis (APN) or cystitis (CYS) were analyzed for clinical symptoms, laboratory tests, risk factors, and etiology, depending on their age and sex. Results: We studied 948 children with UTIs (531 girls and 417 boys), with a median age of 12 (IQR 5−48 months). A total of 789 children had clinical symptoms; the main symptom was fever (63.4% of patients). Specific symptoms of UTIs were presented only in 16.3% of patients. Children with APN had shown significantly more frequent loss of appetite, vomiting, lethargy, seizures, and less frequent dysuria and haematuria than children with CYS. We found significantly higher median WBC, CRP, and leukocyturia in children with APN than with CYS. The risk factors of UTIs were presented in 46.6% of patients, of which 35.6% were children with APN and 61.7% with CYS. The main risk factor was CAKUT, more frequently diagnosed in children with CYS than APN, mainly in children <2 years. The most commonly isolated bacteria were Escherichia coli (74%). There was a higher percentage of urine samples with E. coli in girls than in boys. Other bacteria found were Klebsiella species, Pseudomonas aeruginosa, Proteus mirabilis, and Enterococcus species. Conclusions: Patients with APN were younger and had higher inflammatory markers. Often, fever is the only symptom of UTI in children, and other clinical signs are usually non-specific. The most common UTI etiology is E. coli, regardless of the clinical presentation and risk factors.