- Dettagli della rivista
- Pubblicato per la prima volta
- 01 Jan 2020
- Periodo di pubblicazione
- 4 volte all'anno
- Accesso libero
Pagine: 9 - 13
The possible implications of physical activity during the period of pregnancy have been much debated over recent decades. This brief appraisal integrates knowledge from an array of position papers, systematic reviews, meta-analyses, and recommendations provided by specialty board committees. The medical community is becoming more and more aware of the beneficial effects of mild and moderate physical activity on the mother and the fetus, including improved clinical correlates of subsequent vaginal delivery, as contrasted to the clearly unbeneficial effects of a sedentary lifestyle.
- Physical activity
- maternal health
- fetal health risks
- pregnancy outcome
Original articles/Prace oryginalne
- Accesso libero
Fragile x syndrome and,-dependent diseases - Clinical presentation, epidemiology and molecular background
Pagine: 14 - 21
Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients varies and depends mainly on the patient’s sex. Besides intellectual disorders, additional symptoms, such as psychomotor delay, a specific behavioral phenotype, or emotional problems are present in FXS patients.
In over 99% of the cases, the disease is caused by the presence of a dynamic mutation in the FMR1 gene localized on the X chromosome. Due to the expansion of CGG nucleotides (over 200 repeats), FMR1 gene expression is decreased and results in the significant reduction of the FMRP protein level. The CGG expansion to premutation range (55-200 CGG repeats) is equivalent to the FXS carrier status and may cause FMR1-dependent disorders − fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). In contrast to FXS, clinical symptoms of these diseases occur later in adulthood.
The aim of the article is to present the knowledge about the molecular background and epidemiology of fragile X syndrome and other FMR1-related disorders.
- zespół łamliwego chromosomu X
- fragile X syndrome
- Accesso libero
Pagine: 22 - 32
The presence of dynamic mutation in the FMR1 gene localized on the X chromosome (Xq28) is the major cause of Fragile X syndrome. As this syndrome is quite frequently diagnosed in patients with intellectual disability and autism spectrum disorders, the genetic testing of the FMR1 gene is a routine procedure performed in these patients. Molecular methods based on the PCR technique are used commonly, as they allow to identify normal (up to 54 CGG repeats, including grey zone alleles – 45-54 CGG repeats), premutation (55-200 CGG repeats) and full mutation (>200 CGG repeats) alleles.
The article presents the basic methods used in the molecular diagnosis of Fragile X syndrome and other FMR1-related disorders. The following methods are presented: a screening test with GeneScan analysis, TP-PCR based tests and methods used for methylation analysis. Their pros and cons, as well as the resulting interpretation are discussed. Moreover, there is a presentation of the molecular diagnostic scheme following European Molecular Genetics Quality Network guidelines used in the Department of Medical Genetics.
- mutacja dynamiczna
- dynamic mutation
- Accesso libero
Mutacja odpowiedzialna za dystonię torsyjną typu 1 wykazuje zdolność stymulacji wewnątrzkomórkowej agregacji zmutowanej huntingtyny
Pagine: 33 - 38
Torsion dystonia type 1 is the most common form of early-onset primary dystonia. Previous reports have suggested that torsin 1A, a protein mutated in this disease, might function as a chaperone that prevents the toxic aggregation of misfolded polypeptides.
The aim of this study was to verify the chaperone function of torsin 1A by investigating its ability to prevent the aggregation of huntingtin model peptides.
N-terminal mutant huntingtin fragments of different length were co-expressed in neuronal HT-22 and non-neuronal HeLa cells with either the wild-type or mutant (ΔE302/303) torsin 1A protein. The transfected cells were immunostained and analyzed for the presence of huntingtin aggregates using fluorescence microscopy.
The immunofluorescence analysis of huntingtin subcellular distribution within the transfected cells showed no significant difference between the huntingtin aggregation levels in cells co-expressing the wild-type torsin 1A and in control cells co-transfected with an empty vector. Instead, it was the increased level of huntingtin aggregation in the presence of the torsion dystonia-causing ΔE302/303 mutant that reached statistical significance in both neuronal and non-neuronal cells.
Either torsin 1A does not function as a chaperone protein or huntingtin is not an efficient substrate for such a hypothetical chaperone activity. However, the ability of mutant torsin 1A to stimulate the accumulation of aggregation-prone polypeptides might constitute an important source of ΔE302/303 pathogenicity and thus a potential target for future therapy.
- torsin 1A
- torsion dystonia
- chaperone proteins
- protein aggregation
- torsyna 1A
- dystonia torsyjna
- białka opiekuńcze
- agregacja białek
- Accesso libero
Neuroimaging results, short-term assessment of psychomotor development and the risk of autism spectrum disorder in extremely premature infants (≤28 GA) - A prospective cohort study (preliminary report)
Pagine: 39 - 48
Infants ≤28 GA are at particular risk of psychomotor and neurological developmental disorder. They also remain at a higher risk of developing autism spectrum disorder (ASD), characterized by persistent deficits in communication/social interactions and restricted, repetitive behaviors, activities and interests. Monitoring their development by a team of specialists (a neurologist, psychologist, psychiatrist) allows us to make an early diagnosis and to implement appropriate therapy. Neuroimaging studies during the neonatal period may be helpful in clarifying diagnosis and prognosis.
The aim of the study was to search for the interrelation between the results of neuroimaging and the neurological, psychological and psychiatric evaluation at the age of 2.
Neonates born at ≤28 weeks between 01.06.2013 and 31.12.2015 and hospitalized at NICU were enrolled. We present the results of the first 12 children who have attained 2 years of corrected age and have undergone both neuroimaging, and neurological, psychological and psychiatric assessments. Transfontanel ultrasound was performed according to general standards, MRI between 38 and 42 weeks of corrected age. Neurological examination based on the Denver scale, ASD screening with use of the STAT test and psychological DSR assessment were performed at 2 years of corrected age.
Median GA was 26 weeks and median weight 795 g. The ultrasound examination was normal in 9 cases (75%) and MRI in 4 (33%). Abnormalities in the cerebellum were the main additional information found in MRI as compared to US. Neurological examination was normal in 8 infants (67%), in 4 of whom neuroimaging was normal. In 4 (33%) infants the neurological examination was abnormal. Psychomotor development at an average level or above was found in seven (58%) children. In 4 of them neuroimaging was normal, whereas 3 had ventricular dilatation and haemorrhagic infarct. There were no abnormalities within the cerebellum in this group. In the remaining 5 children (42%) psychomotor development was rated as delayed. All of them had cerebellar haemorrhage. An increased risk of ASD was observed in 4 children who developed cerebellar hemorrhage.
1. The use of MRI at a term-equivalent age may contribute to the prognosis of neurodevelopmental outcomes in extremely premature infants, allowing risk stratification and thus enhancing early monitoring of a child’s development and functional status 2. There is a clear tendency towards abnormal psychomotor development and positive screening for ASD to co-occur with abnormal MRI findings in the cerebellum.
- neuroimaging studies
- noworodek przedwcześnie urodzony
- ocena rozwoju
- badania neuroobrazowe
- Accesso libero
Pagine: 49 - 57
As far as infectious factors are concerned, Cytomegalovirus is considered one of the most common causes of progressive hearing impairment and neurological disorders among children. The increasing number of CMV infections creates the necessity of quick diagnosis and treatment that may reduce the consequences or even completely resolve the condition. It is essential that the diagnostic team consists of not only neonatologists but also obstetricians/perinatologists. In many countries, including Poland, screening is not being carried out among pregnant women, which delays the diagnosis and the begining of antiviral treatment or might even indispose the therapy.
- wirus cytomegalii
- Accesso libero
Stężenie frakcji kostnej fosfatazy zasadowej (BALP) i zewnątrzkomórkowej domeny receptora HER-2 (ECD/HER-2) w surowicy krwi, podczas leczenia dzieci i młodzieży z mięsakiem kościopochodnym
Pagine: 58 - 64
The aim of this study was to assess the usefulness of bone-specific alkaline phosphatase (BALP) and the extracelluar domain of human epidermal growth factor receptor 2 (ECD/HER-2) measurements in pediatric patients with osteosarcoma as prospective prognostic and predictive markers for monitoring the treatment and early detection of disease recurrence.
We studied 22 patients (5 girls, 17 boys) aged 7-20 years with osteosarcoma (OS) treated at the Institute of Mother and Child in Warsaw. All the patients were evaluated for the serum levels of BALP and ECD/HER-2 before treatment, during pre- and postoperative chemotherapy and after the completion of treatment. Healthy children (n=22) were the reference group. The levels of BALP and ECD/HER-2 were measured using immunoenzymatic methods.
The values of BALP and ECD/HER-2 proteins were higher (p<0.01; p<0.05, respectively) in patients with osteosarcoma at the time of diagnosis compared with the control group. The values of both markers significantly decreased during chemotherapy in most patients with remission. In contrast to ECD/HER-2, the value of BALP after therapy was higher in patients with progression than with remission (p<0.001).
Our results demonstrate the different pattern of BALP and ECD/HER-2 proteins during clinical treatment in patients with osteosarcoma. Higher values of BALP may characterize the progression of the disease and unfavourable prognosis. Further longitudinal studies are necessary to confirm the prognostic values of BALP and ECD/HER-2 proteins in this group of patients.
- bone tumor
- prognostic marker
- guz kości
- marker prognostyczny
- wiek młodzieńczy
- Accesso libero
Pagine: 65 - 70
One of the possible consequences of incarcerated inguinal hernia in boys is testicular ischemia because of the prolonged compression of spermatic cord structures by the sac contents, resulting in ipsilateral testicular atrophy. This complication is well described in the literature and occurs in 5-34% of patients. The incidence of testicular atrophy secondary to incarcerated hernia is estimated to be 2-3%. Testicular necrosis as the result of hernia incarceration is, however, an extremely rare clinical setting. We present 4 male infants aged 3-10 weeks with inguinal hernia incarceration which led to ipsilateral testicular loss. All the boys had to be operated on because of irreducible incarcerated hernia and in all the cases testicular necrosis was found intraoperatively. The time of incarceration before surgical intervention ranged from 4 to 12 hours (mean 6.75). Our data show that every case of hernia incarceration in a very young male infant requires rapid diagnosis and proper intervention, i.e. surgical treatment, instead of repeated attempts of manual reduction. Ultrasound examination should estimate not only blood flow through the incarcerated intestinal loop, but also through the ipsilateral testis. Moreover, during the operation of the incarcerated hernia in a boy it is necessary to estimate the ipsilateral testis.
- hernia incarceration
- testicular necrosis
- inguinal hernia
- uwięźnięcie przepukliny
- martwica jądra
- przepuklina pachwinowa
- Accesso libero
Pagine: 71 - 74
True phimosis is overdiagnosed due to the failure to distinguish it from physiological phimosis, which is a normal developmental non retractability of the foreskin. The non-retractile prepuce in children is a cause of parental anxiety and concern. This leads to the majority of the children undergoing surgical procedures. Pathological phimosis needs to be differentiated from physiologic phimosis to avoid unnecessary circumcision. In recent years, topical steroid application use in cases of non-retractile prepuce has shown a good success rate and is well accepted by the parents. It has low risks, is cost effective and avoids anaesthetic and surgical complications.
This is an observational study of 100 children with non-retractile foreskin who were managed by local application of topical steroid cream (0.1% Mometasone) over a period of 6 weeks. The non-retractibility was classified according to Kikiro’s classification. These patients were analyzed on the basis of age at presentation, complaints at the first presentation, grade of phimosis at first presentation (as per Kikiro’s classification), results of the topical steroid application as assessed at 6 weeks after starting application and after stopping of the steroid administered for 6 weeks. The results were analyzed on the basis of the resolution of symptoms and the decrease in Kikiro’s grade. Those patients in whom there was no response to treatment or who developed recurrence after stopping steroid treatment underwent circumcision. A total of 19 patients required surgical intervention in the form of circumcision. The use of topical steroids yields satisfactory results in patients with a non-retractile prepuce. It could be a first-line treatment for management in such cases and is an effective alternative designed to avoid unnecessary circumcision.
Review articles/Prace poglądowe
- Accesso libero
Pagine: 75 - 80
Due to specific anatomy of children are more vulnerable to the carcinogenic effects of ionizing radiation from chest X-rays. Lung ultrasound (LUS) is a validated procedure which can easily be used in diagnosing pathologies of the neonatal lung. However, experimental studies have shown that low frequency ultrasound may induce pulmonary capillary hemorrhage (PCH).
To evaluate the potential relationship between lung ultrasound and pulmonary hemorrhage in very low birth weight infants.
We analysed the medical records of very low birth weight infants admitted to our neonatal tertiary centre between 2008 and 2011 (group 1), when CXR was the main procedure used to evaluate the respiratory system, and between 2013 and 2016 (group 2), when LUS became a routine procedure, replacing the chest X-ray.
297 infants were enrolled in the first group and 286 in the second group, respectively. There was no difference in the frequency of pulmonary hemorrhages between the two groups (p=1). In the first group there was only one episode of PCH and in the second group no PCH was seen. Statistically significant differences were seen in a number of patients with pulmonary hemorrhage risk factors: surfactant administration (p<0.001), mechanical ventilation (p=0.0003), and hemodynamically significant patent ductus arteriosus (p=0.025).
Routine lung ultrasound appears to be safe in very low birth weight infants; there were no episodes of pulmonary hemorrhage.
- pulmonary capillary hemorrhage
- lung ultrasound
- very low birth weight infant
- krwotok płucny
- ultrasonografia płuc
- bardzo niska masie urodzeniowej
- Accesso libero
Pagine: 81 - 87
Urinary tract diseases are in the group of the most commonly diagnosed medical conditions in pediatric patients. Many diseases with different etiologies are accompanied by pain, fever, hematuria, or urinary tract dysfunction. Those most common ones in children are urinary tract infections and congenital malformation. They can also represent tumors or changes caused by systemic diseases. Clinical tests and even more often additional imaging studies are required to make a proper diagnosis of urinary tract diseases. Just a few decades ago urography, cystography or voiding cystourethrography were the main methods in diagnostic imaging of the urinary tract. Today’s imaging methods supported by digital radiographic and fluoroscopy systems, high sensitivity detectors with quantum detection, advanced algorithms eliminating motion artifacts, modern medical imaging monitors with a resolution of three or even eight megapixels significantly differ from conventional radiographic methods. The methods that are currently usually performed are: computed tomography, magnetic resonance imaging, isotopic methods and ultrasonography using elastography and new solutions in Doppler imaging.
Modern techniques are currently focused on reducing radiation exposure with better imaging capabilities. The development of these techniques became an essential diagnostic aid in nephrological and urological practice. The aim of this paper is to present the latest solutions that are currently used in the diagnostic imaging of urinary tract diseases.
- diagnostic imaging
- urinary tract diseases
- diagnostyka obrazowa
- choroby układu moczowego
- Accesso libero
Pagine: 88 - 93
Urolithiasis in the pediatric population represents a major challenge associated with both the diagnosis and therapy of the condition. Over the past 25 years, the incidence has increased. The average age of pediatric patients with stones is about 7-8 years and the recurrence rate is 24%-50%. More than 80% of the stones are eliminated spontaneously. The remaining ones require conservative or surgical treatment. Choosing the most appropriate treatment depends on many factors. Surgical procedures in children are the same as in adults. These include extracorporeal shockwave lithotripsy (ESWL), ureterolithotripsy (URSL), retrograde intrarenal surgery (RIRS), percutaneous nephrolithotomy (PCNL) and laparoscopic or open surgery. ESWL is a method of choice for the treatment of stones with a diameter of ≤20 mm located in the upper urinary tract, while PCNL is used in the treatment of deposits ≥1.5 cm located in the upper pole of the kidney, deposits of ≥1.0 cm located in the lower pole of the kidney, as well as hard stones such as cystic or struvite ones. URSL/RIRS is a method for ureteral and renal stones. Open surgery is indicated in cases when anatomical anomalies coexist with urolithiasis, or when the use of PCNL or ESWL is impossible. The ideal procedure should be effective, safe and allow the complete evacuation of the stones after the 1st procedure.
- kamica układu moczowego