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Developmental Period Medicine

Joanna Samotyjek, Beata Jurkiewicz, Andrzej Krupa
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...
2018: Developmental Period Medicine
Artur Maliborski, Arkadiusz Zegadło, Małgorzata Placzyńska, Małgorzata Sopińska, Marianna Lichosik, Katarzyna Jobs
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...
2018: Developmental Period Medicine
Mateusz Jagła, Olga Krzeczek, Aleksandra Buczyńska, Zuzanna Zakrzewska, Przemko Kwinta
OBJECTIVE: Introduction: 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). Aim of the study: To evaluate the potential relationship between lung ultrasound and pulmonary hemorrhage in very low birth weight infants...
2018: Developmental Period Medicine
Deepa Makhija, Hemanshi Shah, Charu Tiwari, Pankaj Dwiwedi, Suraj Gandhi
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...
2018: Developmental Period Medicine
Teresa Dudek-Warchoł, Wojciech Gług, Aleksandra Kurek, Przemysław Bombiński, Stanisław Warchoł
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...
2018: Developmental Period Medicine
Magdalena Rychłowska-Pruszyńska, Joanna Gajewska, Jadwiga Ambroszkiewicz, Marek Karwacki, Katarzyna Szamotulska
OBJECTIVE: Aim: 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. PATIENTS AND METHODS: Material and methods: 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...
2018: Developmental Period Medicine
Dorota Lisowska-Mikołajków, Agata Mikołajków, Jędrzej Reczuch, Barbara Królak-Olejnik
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...
2018: Developmental Period Medicine
Magdalena Rutkowska, Monika Bekiesińska-Figatowska, Grażyna Kmita, Iwona Terczyńska, Katarzyna Polak, Marcin Kalisiak, Dorota Prażmowska, Eliza Kiepura, Sylwia Szkudlińska-Pawlak, Małgorzata Seroczyńska, Ewa Helwich
OBJECTIVE: 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...
2018: Developmental Period Medicine
Marta Jurek, Ewa Obersztyn, Michał Milewski
OBJECTIVE: Introduction: 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 the study: 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. PATIENTS AND METHODS: Materials and methods: 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...
2018: Developmental Period Medicine
Aleksandra Landowska, Sylwia Rzońca, Jerzy Bal, Monika Gos
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...
2018: Developmental Period Medicine
Aleksandra Landowska, Sylwia Rzońca, Jerzy Bal, Monika Gos
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...
2018: Developmental Period Medicine
Miriam Katz
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...
2018: Developmental Period Medicine
Przemysław Bombiński, Michał Brzewski, Stanisław Warchoł, Marek Gołębiowski
BACKGROUND: Low-dose CT Urography (LD-CTU) has become a standard procedure in urinary tract abnormalities in children, especially when MR Urography is not available. Standard one-phase CTU is performed in excretory phase. There is also a split-bolus technique, which combines two or even three phases during one scan and provides more clinical information without higher radiation exposure. It can be implemented for congenital anomalies of kidneys and urinary tract (CAKUT) in children, however, this application is not deeply discussed in scientific literature...
2017: Developmental Period Medicine
Tamara Zofia Walczak, Magdalena Chrzan-Dętkoś
AIM: The aim of the study was to examine the relationship between anxiety, the severity of post-traumatic stress disorder (PTSD) symptoms in mothers and hot and cool executive functions of their children who were born very prematurely. MATERIAL AND METHODS: The group consisted of 20 mothers and their children born before 32 weeks of pregnancy. The intensity of anxiety in mothers was measured using the State-Trait Anxiety Inventory (STAI), while the severity of symptoms of PTSD was assessed using the Impact of Event Scale - Revised (IES-R)...
2017: Developmental Period Medicine
Jayesh Desale, Hemanshi Shah, Vikrant Kumbhar, Gursev Sandlas
Desmosis coli is a rare pathology presenting as slow transit constipation. In this case we would like to discuss the presentation and management of desmosis coli. A 14-month-old female hailing from western India with a history of chronic constipation presented with acute massive abdominal distension and vomiting. At laparotomy, a hugely dilated transverse and sigmoid colon with a transition zone at the lower sigmoid was found. A transverse stoma was done after taking multiple sero-muscular biopsies. The patient underwent re-exploration on day 14 because of the non-functioning of the stoma and a fixed bowel loop...
2017: Developmental Period Medicine
Nikolay A Shcherbina, Liudmyla А Vygivska
OBJECTIVES: To study the state of immunity in pregnancies associated with urogenital infection and complicated by intrauterine infection. MATERIAL AND METHODS: The comparative study involved the examination of 250 pregnant women with urogenital infection and ultrasonographic signs of intrauterine infection and their newborns in order to assess the state of cellular and humoral immunity components and nonspecific resistance. A direct prospective examination of pregnant women was carried out in the 2nd and 3rd trimesters of gestation...
2017: Developmental Period Medicine
Grażyna Krzemień, Agnieszka Turczyn, Małgorzata Pańczyk-Tomaszewska, Aleksandra Jakimów-Kostrzewa, Agnieszka Szmigielska
In patients with autosomal dominant polycystic kidney disease (ADPKD) coexisting abnormalities of the urinary tract are considered rare. Only a few patients with ADPKD and congenital abnormalities of the kidney and urinary tract- renal agenesis, hypoplasia, aplasia, horseshoe kidney, ectopic multicystic dysplasic kidney, or subpelvic junction obstruction were reported. Renal agenesis occurs in approximately 1 in 1.500.000-3.000.000 patients with ADPKD. We report a boy with ADPKD and renal agenesis diagnosed at the age of 12 years...
2017: Developmental Period Medicine
Katarzyna Walicka-Serzysko, Magdalena Postek, Dorota Sands
Small airways are the site of pathological changes often in an early stage in many diseases such as asthma or cystic fibrosis. However this part of the airways is overlooked in conventional respiratory function tests and it is therefore often referred to as "silent lung zone". This paper presents the theoretical background of MBNW multi-breath nitrogen washout in the diagnosis of minor respiratory diseases. The technical issues related to the preparation of pediatric patients for the test. Clinical applications of the MBNW test results are still subject to a number of studies...
2017: Developmental Period Medicine
Nina Mól, Magdalena Zasada, Małgorzata Klimek, Przemko Kwinta
AIM: To continue the prospective follow-up cohort study on the somatic development and lipid metabolic parameters of 11-year-old-children born with extremely low birth weight and to compare them with the results obtained in the study of 7-year-old children from the same group. MATERIAL AND METHODS: 204 newborns with birth weight ≤1000 g were born in the Malopolska voivodship between 1.09.2002 and 31.08.2004. From this group 115 (56%) children died during infancy and 89 (44%) infants survived...
2017: Developmental Period Medicine
Joanna Żółkowska, Kamil K Hozyasz, Maria Nowacka
Phenylketonuria (PKU) is the autosomal recessive deficiency of phenylalanine hydroxylase resulting in the accumulation of phenylalanine (Phe) in blood and in the brain. Phe restriction in a patient's diet is determined depending on the amount of Phe intake which allows for stable blood Phe levels within the therapeutic range of 120-360µmol/L. In clinical practice the empirical determination of Phe tolerance relies on frequent assessment of blood Phe concentrations in relation to Phe intake from food records...
2017: Developmental Period Medicine
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