Objective − 17q12 deletion syndrome is a rare genetic disease characterized by neurodevelopmental disorders, genital and renal abnormalities, and maturity-onset diabetes of the young type 5 (MODY5).Case Report − This case report details the case of a 13-year-old female with moderate intellectual disability, Mayer-Rokitansky-Küster-Hauser syndrome, multicystic dysplastic kidneys, and MODY5. Genetic testing revealed a 1.52-megabase heterozygous deletion on chromosome 17q12, encompassing the HNF1B and LHX1 genes, which was found to be inherited from the mother. Conclusion − This case underscores the importance of early genetic testing and multidisciplinary approach in managing the multisystemic manifestations of 17q12 deletion syndrome. Early diagnosis and appropriate management are crucial for improving the outcomes and quality of life for affected individuals.
The purpose of survey questionnaire testing is to ensure that the questionnaire is effective, reliable, and valid research instrument. It should accurately reflect the intended construct and provide stable and consistent results. In recent years, there has been a growing emphasis on the importance of survey questionnaire testing; however, relatively little methodological research and guidance about testing methods is provided. Our goal is to present the methods available for questionnaire testing in brief and give some advice on how to use them.Conclusion – Testing a survey questionnaire before its deployment is crucial in ensuring the data's accuracy and consistency. There are various testing methods available that address the content and technical quality of the research instrument.
Objective − The aim of this study is to raise awareness about External Occipital Protuberance (EOP) enlargement in children, its typically benign anatomical variant, and the importance of considering associated conditions in diagnosis and management.Case Report − We reviewed the cases of four male patients, presenting with EOP enlargement. Among the cases, one involved a newborn diagnosed with Menkes disease, a rare genetic disorder affecting copper transport, which was associated with occipital exostosis. The other three cases involved adolescents with varying degrees of EOP enlargement, linked to factors such as prior trauma and excessive screen time. Conclusion − While EOP enlargement is generally a benign anatomical variant, this study underscores the importance of differential diagnosis, particularly in the pediatric population. Clinicians should be aware of the potential, albeit rare, associations with serious conditions such as Menkes disease. A comprehensive approach to diagnosis and management is recommended, especially in symptomatic cases.
Objectives − Type 1 Diabetes Mellitus (DM1) requires demanding treatment in order to achieve good metabolic control. Our aim was to assess whether either method of insulin administration (multiple daily administrations of insulin analogues (MDIA) or continuous subcutaneous insulin infusion (CSII)) is associated with better health-related quality of life (HRQoL).Methods − We conducted a cross-sectional study. Patients aged 10-18 years with a disease duration of at least six months were included. HRQoL was assessed by having patients and their caregivers complete the DISABKIDS-37 questionnaire.Results − Of the 40 patients included, 22 (55%) had CSII. There were no statistically significant differences between subscale scores and overall HRQoL between patients or between parents of patients with CSII or MDIA. CSII patients and parents scored better on all subscales and on the total scale, although without statistically significant differences. There were no statistically significant differences in the subscale scores and overall HRQoL reported by the patients and their parents, but there was a strong correlation between the children’s and parents’ scores (R=0.770; P<0.01), which was similar in patients with CSII or MDIA (R=0.735 vs R=0.790).Conclusion − Although we did not identify statistically significant differences, there was a trend towards a better HRQoL associated with the use of CSII, both from the perspective of the adolescents and their parents. This could influence therapeutic choice. Consistency between the assessments of adolescents and their carers was observed. The choice between MDIA and CSII should be based on individual preferences in order to optimize the HRQoL of adolescents with DM1.
Objectives − This study examined perceived changes in diabetes management among adolescents with type 1 diabetes as they transition from childhood to adolescence, focusing on self-management, parental involvement, physical activity, and treatment reflections.Patients and Methods − Qualitative description employing individual semi-structured interviews was utilized with 19 adolescents. Interview data were processed using a content analysis approach.Results − Most adolescents managed their diabetes independently, drawing from years of experience. While some adhered to medical advice, others made independent decisions, prioritizing convenience, or habits. Parental roles varied, from regular supervision to granting autonomy. Many adolescents appreciated parental support, feeling it provided security, though some experienced it as overbearing or insufficient. They had increased independence in managing their diabetes as they grew older. Acceptance of the disease improved with time, aided by technological advancements. Challenges included increased insulin needs and food intake during adolescence, but overall, they felt more confident and responsible in self-management. Despite advancements in technology, practical challenges persist in managing diabetes during physical activity.Conclusion − Adolescents with diabetes generally develop effective self-management skills and appreciate increasing autonomy, though adherence to medical advice varies. Continued parental support and advanced diabetes technologies play crucial roles in their management. Personalized treatment and balanced parental involvement are needed to increase adherence.
Objective − Duodenal atresia with apple-peel intestinal atresia remains a difficult and complex condition, even with advances in medical and surgical therapies. Due to the significant difference in etiology, the association between these two types of atresia is very rare and is associated with a high rate of mortality. Only twelve of these cases have been described so far in English literature, most often with a poor outcome. Our patient survived and is doing well.Case Report − Here, we present a premature infant in whom intestinal atresia was suspected prenatally. On the first day of life, based on clinical, radiographic and ultrasound examination, suspicion was confirmed and surgical intervention was performed. It was discovered that the proximal part of the duodenum blindly ends with a large dilation. The proximal jejunum also ends blindly and the distal small intestine wraps around a single mesenteric vessel in a spiral fashion reminiscent of an “apple-peel.” At the first operation (on the first day of life), a double enterostomy of the proximal duodenum and the proximal jejunum was performed. On the second operation (on day 10), the continuity of the digestive intestine was established by end-to-end duodeno-jejunal anastomosis. Progress in body mass was confirmed during the postoperative period and normal stool was formed on a regular basis.Conclusion − Based on our case, possible reasons for the good outcome of patients with these rare forms of intestinal atresia are prenatal suspicion, early postnatal diagnosis, and early surgical intervention. Further studies should investigate the possibility of a common cause of duodenal atresia and apple-peel atresia to facilitate early diagnosis and early treatment.
Objective − The report presents a case of an adolescent girl with vertigo resulting from unilateral vestibular hypofunction, diagnosed after extensive pediatric and otorhinolaryngological evaluations.Case Report − A seventeen-year-old female adolescent sought medical assistance at the pediatric emergency hospital service on several occasions within one year due to feelings of weakness and darkened vision occurring during abrupt standing, exposure to heat, and stress. Symptoms were initially attributed to school obligations, low blood pressure, and the menstrual cycle. After an episode that also involved a brief loss of consciousness, an extensive neurological evaluation was conducted, excluding epileptogenic causes. Subsequent diagnostic procedures included evoked visual potential tests, psychological assessments, laboratory blood tests, thyroid hormone assays, and Borrelia burgdorferi serology, all yielding normal results. Finally, otorhinolaryngological examinations were performed, including pure tone audiometry, tympanometry, video head impulse tests, videonystagmography, and vestibular evoked myogenic potential tests. These tests indicated symptoms arising from unilateral labyrinthine hypofunction of the inner ear. The patient underwent vestibular rehabilitation, resulting in symptom resolution and confirmed functional recovery.Conclusion − Diagnosing vertigo in adolescence is challenging, as impaired balance can manifest as a symptom of various diseases. Presentation with atypical symptoms for peripherally caused balance disorders complicates diagnosis. Otorhinolaryngologists and audio-vestibular diagnosticians play pivotal roles in establishing accurate diagnoses.
Objectives − This study aims to compare the clinical and analytical presentation of Central precocious puberty (CPP), considering age.Methods − An observational, cross-sectional study was conducted on children diagnosed with CPP at a level III hospital, between January 2002 and April 2022. Clinical, auxological, sociodemographic, laboratory, and imaging parameters were analyzed.Results − Out of the 52 children studied, the majority were girls (N=44). The median age of puberty onset in girls was 6.79 years and the mean age at first consultation of 8.13 years, with a significantly lower age at hospital referral (7.65 years; P=0.045) compared to boys. Idiopathic etiology was predominant in both. In girls, breast development appeared at older mean ages (P=0.009), while pubic hair growth and accelerated growth were associated with younger ages at puberty onset (P=0.021; P=0.018, respectively). Basal and peak levels of gonadotropin hormones were higher in girls, although not statistically significant. In girls, age at puberty onset correlated negatively with standard deviation of body mass index (P=0.023), while age at first consultation correlated positively with bone age (P<0.001), and was associated with younger ages at Gonadotropin-Releasing Hormone stimulation test (P=0.020).Conclusion − This study provides innovative and relevant findings that enhance understanding of CPP presentation according to age, thereby improving clinical management of this condition.
Objective − This case report was written with the purpose of educating neonatal caregivers with regard to the early detection of osteomyelitis in order to start treatment quickly and avoid the devastating consequences later with lifelong disability.Case Report − We present a 20-day-old newborn with a lack of spontaneous movement of the right arm, which first occurred 5 days prior. The newborn was diagnosed with Erb’s palsy, and physiotherapy was started. Upon re-examination, he did not move his right arm, his shoulder was slightly swollen, he was afebrile, and C-reactive protein was elevated. The initial radiographic finding was normal, but the ultrasound evaluation found evidence of proximal humerus osteomyelitis. Over the next two days, the condition did not improve despite the included therapy (vancomycin and amikacin). Then, joint drainage surgery was performed. The radiographic finding upon discharge showed significant destruction of the proximal humerus and shoulder joint. At the age of 12 months, the range of motion in the affected shoulder joint was less than in the left.Conclusion − Regular arm mobility in the early postpartum days, pseudoparalysis on examination, a swollen and raised shoulder, pain during passive movements, a positive ultrasound examination, and a high level of C-reactive protein are data that can reliably indicate the onset of osteomyelitis of the proximal humerus and help in the differential diagnosis between osteomyelitis and Erb’s palsy. The lack of timely diagnosis of osteomyelitis and the delayed inclusion of therapy can lead to late consequences, such as significant destruction of the proximal humerus and the shoulder joint.
Objective – This study examines the correlation between demographic characteristics (age and gender), attitudes toward sexting, and peer pressure and sexting behavior among adolescents.Materials and Methods – The current study was conducted among 359 adolescents ages 15-17 in Bosnia and Herzegovina, with data collected again one year after baseline. Participants completed questionnaires on demographic data, sexting behavior, attitudes toward sexting, and peer pressure.Results – Descriptive analyses showed that although adolescents have negative attitudes toward sexting, they do participate in sexting, reporting more receiving (62.95 % –64.06 %) than sending (30.91 % – 32.31 %) and posting (8.91 % – 8.63 %) sexts. Regression analysis revealed that age, gender, attitudes toward sexting and the influence of peer pressure in the fields of risky behavior and parental relationships are significant predictors of various types of sexting. Attitudes toward sexting and peer pressure to engage in risky behavior were also a predictor of sexting behavior one year later. Conclusion – The findings highlight the importance of addressing attitudes toward sexting and peer pressure in future preventive interventions related to sexting.
Objective − We report the case of an 8-year-old girl with acral peeling skin syndrome.Case Report − A previously healthy 8-yearold girl presented with a history of flaccid bullous lesions on the plantar surface of her feet, and subsequent peeling and scarring since she was 12 months old. A biopsy of the plantar lesion was carried out and histological examination revealed an acral skin flap characterized only by the presence of an intracorneal bullous cleft, with hypogranulosis and focal parakeratosis. A genetic study was carried out, identifying two pathogenic heterozygous variants in the TGM5 gene. The clinical presentation, histological and genetic examination confirmed the diagnosis of acral peeling skin syndrome.Conclusion − Acral peeling skin syndrome is not a widely known pathology, which means that cases of acral peeling skin syndrome can be misdiagnosed as Epidermolysis bullosa simplex, especially when a genetic study is not available. Particularly in younger children, it is important not to underestimate the diagnosis of acral peeling skin syndrome, given the different prognostic implications between the two diagnoses.
Objective − Vaccine components have the potential to induce allergic reactions, although such reactions are infrequent, especially anaphylactic reactions, which are very rare (occurring at a rate of 1 per million vaccine doses). The objective of this study was to assess objectively the frequency of allergic reactions to vaccine components in children with suspected allergic reactions to vaccine components. Materials andMethods − We retrospectively analyzed the medical records of 209 patients aged 1 to 18 years with suspected allergic reactions to vaccine components, who underwent the standardized diagnostic procedures and tests to common allergens and vaccine components at Srebrnjak Children`s Hospital, Zagreb, Croatia. Results − Of the 209 children vaccinated in the hospital setting, only two (0.95%) developed side effects during their hospital stay, and 2.63% with a positive history of IgE mediated vaccine allergy were positive for one of the components of the vaccine. Local reactions to the vaccine were the most frequent adverse events in our patients. 62.6% of them were referred due to a positive history of egg protein allergy. Conclusion − Allergic reactions to vaccine components are rare and mild in most cases. In patients with a suggestive history, it is important to choose appropriate diagnostic tests to determine if vaccination can be performed safely. Only patients at risk of egg protein anaphylaxis generally require medically supervised vaccination in a hospital facility. Patients with a history or a documented and immediate allergic reaction (<4 h) require an allergy workup to avoid the risk of repeated anaphylaxis after further administration.
Objective − The aim of the study was to assess the knowledge and attitudes toward vaccination among Croatian high school students and to investigate influence of internet and social networks on the reported knowledge and attitudes.Materials and Methods − A convenient sample of 1012 adolescents aged 17 to 19 years was included in the study. Data regarding sociodemographic factors, habits of informing oneself regarding the health status, vaccination and vaccines and knowledge of and attitudes toward vaccination were collected.Results − The study showed that Croatian adolescents most often obtained information regarding vaccination from the internet, although they reported health professionals to be the most reliable source. Adolescents reported poor knowledge about vaccination. Better knowledge was reported by adolescents who inform themselves about vaccination through scientific literature or school teachers than those who use the internet and social contacts. Results showed that the negative attitude toward vaccination was associated with the internet as the source of information, female gender and poor knowledge about vaccination.Conclusion − Adolescent mostly get information about vaccination on the internet as the easiest accessible source. Efforts should be made to make relevant sources of information more available to adolescents since good knowledge correlates with positive attitude toward vaccination.
Objective − To investigate the effect of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy on physical condition in children with cystic fibrosis (CF) during a 12month period.Materials and Methods − This is a retrospective cohort study including children aged ≥5 years treated with Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) or Lumacaftor/ Ivacaftor (LUM/IVA). A six-minute walk test (6MWT) was performed at baseline and at the 3-month follow-ups. Changes in spirometry and sweat chlorides, and body mass index (BMI) were also observed. Collected data were analysed for changes in 6MWT results in correlation with other parameters. The 6MWT results were compared to those predicted for healthy peers. Missing values were replaced using imputation.Results − Study includes 34 patients (median age 14 years); 28 received ELX/TEZ/ IVA, and 6 LUM/IVA. The average 6MWT walking distance (6MWD) increased from 519.3±107.7 m at baseline to 620.0±99.5 m after 12 months (P<0.0001). The 12 month 6MWD values matched those expected for healthy peers. The increase in BMI z-score (P=0.019) and ppFEV1 (P<0.0001) visible at the 3-month followup was sustained throughout the rest of the year. Sweat chloride concentration decreased (P< 0.0001); after 12 months 13/34 subjects had values below 60 mmol/L. No correlation between 6MWD and other parameters was observed.Conclusion − Significant improvement in 6MWT results was already visible at three months following the initiation of CFTR modulator treatment. After 12 months patients performed 6MWT at a level indistinguishable from that expected of healthy peers.
Objective − This study looked into the relationship between maternal factors and the timely initiation of complementary feeding for infants. Material and Methods − A cross-sectional study was conducted from September to December 2022 on 196 mothers and their children aged 6-23 months. This study collected data through a questionnaire that included sociodemographic informa- tion, the Infant and Young Child Feeding Questionnaire for Child Care Providers (IYCF-CCPQ), the Iowa Infant Feeding At- titude Scale (IIFAS), and the time of initiation of complementary feeding.Results − This study included 196 mothers, with 128 (55.1%) having adequate knowledge of complementary feeding and 112 mothers (59.7%) had a negative view of infant feeding. The rate of timely initiation of complementary feeding was 71.4%. The mothers’ knowledge of infant feeding did not predict the timely initiation of complementary feeding (OR=1.18; 95% CI=0.62-2.26). However, maternal attitudes toward infant feeding were linked to the timely initiation of complementary feeding (OR=2.14; 95% CI=1.14-4.02). Conclusions − Mothers with positive attitudes toward infant feeding were twice as likely to start complementary feeding on time as those with negative at- titudes. Counseling mothers on the importance of timely initiation of complementary feeding is therefore required to improve mothers’ attitudes toward providing complementary foods to their infants in accordance with health recommendations.
Objectives − Most viral respiratory tract infections (VRTI) are seasonal diseases and frequently severely affect public health by causing seasonal epidemics and pandemics, also in newborns. The objective of this study was to analyse the relation of meteorological factors to the occurrence of neonatal VRTI and to estimate their predictive role for VRTI seasonality.Patients and methods − The retrospective observational cohort study enrolled 228 newborns (56% male and 29% preterm) aged up to 44 postmenstrual weeks, hospitalized due to acute VRTI between January 2015 and December 2020 in the central Slovenian region. The meteorological data for the same geographical region and time period were assessed, and correlation, multiple regression and cut-off values were analysed. Results − A typical seasonal distribution of VRTI from December to March was observed and the large majority of cases were due to respiratory syncytial virus (RSV) infection. Low air temperature, high relative humidity, shorter daily solar radiation and increased cloud cover were associated with an increased risk of neonatal, either RSV or non-RSV VRTI.Conclusions − Meteorological factors, particularly air temperature and relative humidity, were associated with neonatal VRTI occurrence in the temperate climate of central Slovenia. The average daily air temperature below 4.9 and 3.8 °C could predict the onset of the VRTI and RSV VRTI season, respectively. These factors could be used as real-time predictive warning, especially for RSV season onset and the need to begin RSV immunoprophylaxis in vulnerable newborns.
Objectives − Post infectious glomerulonephritis (PIGN) is the most common type of nephritis in children. Presentation is variable, and most cases initially have low serum complement C3. Membranoproliferative glomerulonephritis (MPGN) is a chronic nephritis less frequently seen in children and is also associated with low serum C3. While management of PIGN is predominantly supportive, MPGN usually requires immunosuppressive therapy. Differentiating PIGN from MPGN at presentation is difficult. Early diagnosis can help inform evaluation and treatment decisions.Materials and Methods − This is a retrospective study of all children 1-21 years of age diagnosed with PIGN and MPGN, treated by nephrologists at Nationwide Children’s Hospital between January 2014 and December 2019. Clinical data, results of kidney function, complement levels, urine testing and biopsy were collected. Children with other types of glomerulonephritis were excluded.Results − Fifty-seven children were included (43 with PIGN and 14 with MPGN). PIGN children were younger at presentation (median age: 7 vs 9.5 years, P=0.0159) and more likely to have a C3 level <40 mg/dl compared to MPGN children (P=0.0031). Most children with PIGN (74.42%) had normal complement levels within 12 weeks after diagnosis compared to 35.71% of children with MPGN. More children with MPGN had evidence of chronic kidney disease as compared to PIGN children, who were more likely to have a full kidney recovery. Conclusions − Younger children with more significant hypocomplementemia at presentation were more likely to have PIGN than MPGN. We recommend earlier evaluation for MPGN in adolescents with milder degrees of hypocomplementemia (>40 mg/dl).
