Search Results (24)

Background: Pediatric syrups are frequently prescribed but may pose a risk to dental enamel due to their acidity and viscosity. Aim: To evaluate the erosive potential of commonly prescribed pediatric syrups on enamel from primary and permanent human teeth under ex vivo conditions. Design: Enamel–dentin blocks from sound primary and permanent teeth were assigned to nine groups (eight syrups and one control). Samples were immersed in their respective solutions four times daily for a 6-day exposure period. Mineral loss (ΔF) was assessed via Quantitative Light-Induced Fluorescence (QLF), surface roughness via profilometry, and morphological changes via scanning electron microscopy (SEM). Syrup pH and viscosity were also measured. Results: Significant ΔF changes were found only for dextromethorphan on primary enamel (p = 0.0054). No significant enamel loss was observed by profilometry. Surface roughness increased significantly with glycerin, distilled water, and azithromycin. Syrups showed a wide pH range (3.92–8.44) and varied viscosity, with ibuprofen and glycerin being the most viscous. Conclusions: Most pediatric syrups did not cause significant enamel demineralization or loss under short-term ex vivo exposure. However, increased surface roughness suggests that specific formulations may affect enamel texture, underscoring the need for preventive care in frequent users. Full article

Background: Maple syrup urine disease (MSUD) is a genetic disorder caused by mutations in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, leading to toxic buildup of branched-chain amino acids (BCAAs) and their ketoacid derivatives. While newborn screening (NBS) and molecular testing are standard diagnostic tools, they face challenges such as delayed results and false positives. Untargeted metabolomics has emerged as a complementary approach, offering comprehensive metabolic profiling and potential for novel biomarker discovery. We previously applied untargeted metabolomics to neonates with MSUD, identifying distinct metabolic signatures. Objective: This follow-up study investigates metabolic changes and biomarkers in pediatric MSUD patients and explores shared dysregulated metabolites between neonatal and pediatric MSUD. Methods: Dried blood spot (DBS) samples from pediatric MSUD patients (n = 14) and matched healthy controls (n = 14) were analyzed using LC/MS-based untargeted metabolomics. Results: In pediatric MSUD, 3716 metabolites were upregulated and 4038 downregulated relative to controls. Among 1080 dysregulated endogenous metabolites, notable biomarkers included uric acid, hypoxanthine, and bilirubin diglucuronide. Affected pathways included sphingolipid, glycerophospholipid, purine, pyrimidine, nicotinate, and nicotinamide metabolism, and steroid hormone biosynthesis. Seventy-two metabolites overlapped with neonatal MSUD cases, some exhibiting inverse trends between age groups. Conclusion: Untargeted metabolomics reveals that the metabolic profiling of MCUD pediatric patients different from that of their controls. Also, there are valuable age-specific and shared metabolic alterations in MSUD, enhancing the understanding of disease progression in MSUD patients. This supports its utility in improving diagnostic precision and developing personalized treatment strategies across developmental stages. Full article

Niaprazine is a sedative-hypnotic drug initially developed as an antihistamine and used for its notable sedative effects, particularly in children. Following its withdrawal from the market by the producer, the drug has been administered as magistral formulations available in syrup form, but there are several important disadvantages to this, including instability, taste issues, lack of controlled release, and the potential for unreliable dosing due to incomplete swallowing. There is also an increased risk of dental caries, as well as the fact that these formulations are not suitable for children who suffer from diabetes. The purpose of the current investigation is to prepare and characterize xanthan gum-based gels for the oral administration of niaprazine. Niaprazine gels appear as transparent-whiteish, non-sticky substances, with the drug uniformly dispersed throughout the systems. They are also stable over time. Dynamic rheology revealed their advantageous shear-thinning properties, which enable the formulation to be flexibly dosed orally through administration via syringe. During experimentation, the evaluation of the mucoadhesion features and the in vitro drug release profile were also performed. The results demonstrate that the formulation may represent an alternative to niaprazine syrup, allowing easy preparation, administration, and increased compliance in various categories of patients, including pediatric. Full article

Background/Objectives: This study aims to evaluate the efficacy and outcomes of renal replacement therapy (RRT) in pediatric patients with metabolic diseases, specifically focusing on the impact of hemodialysis (HD) and peritoneal dialysis (PD) on clinical parameters, toxin reduction, and long-term survival. Methods: This retrospective study included 10 pediatric patients (eight females and two males) treated at a pediatric nephrology department between 2020 and 2023. Patients diagnosed with metabolic disorders, including maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and glycogen storage disease (GSD), underwent RRT. Clinical data, demographic information, and biochemical parameters were collected and analyzed. Results: Among the patients, 50% were diagnosed with MSUD, 30% with MMA, and 20% with GSD. RRT, including HD and PD, was administered to manage acute metabolic crises. HD was particularly effective in rapidly reducing toxic metabolite levels. Patients treated with HD showed significant reductions in leucine and ammonium levels, with median reductions of 94.5% and 86%, respectively. Overall, 60% of the patients demonstrated long-term survival, highlighting the critical role of RRT in managing metabolic crises. In conclusion, RRT, including HD and PD, is crucial in managing pediatric metabolic disorders by effectively reducing toxic metabolite levels and improving clinical outcomes. Conclusions: The results of this study are consistent with previous research, highlighting the critical role of RRT in the acute management of metabolic crises and supporting its adoption as a standard treatment method. Full article

The longevity and acceptance of aesthetic dental materials are directly proportional to color stability. The aim of this study was to analyze the relationship between the use of multivitamins and the color stability of dental restorative materials. A total of 45 discs of nanohybrid composite, 45 of Reinforced Glass Ionomer (RGI), and 45 of Giomer were prepared. Subsequently, the samples were randomly divided into three solution groups (n = 15): Group 1—Sambucol Pediatric Syrup, Group 2—Hidropolivital Baby Drops, and Group 3—artificial saliva, which is preparation for patients with xerostomia. For 28 days, the specimens were immersed in 10 mL of each multivitamin for two minutes every 24 h. Color measurements were repeated on days 7, 14, 21, and 28. Statistical analysis was performed using the Jamovi software version 2.2.5, employing the Shapiro–Wilk test for normality and the Kruskal–Wallis test for non-parametric data. When comparing materials, statistically significant differences (p < 0.001) were observed between RGI and Giomer, and RGI and composite, but not between Giomer and composite (p = 0.716). The highest change was observed in RGI–Hidropolivital ΔE₀₀ = 3.27 (2.38–4.59) and the least in composite–Sambucol ΔE₀₀ = 0.72 (0.30–1.18). In conclusion, the exposure time and the multivitamin influence the color change of restorative materials. Full article

The treatment for Maple Syrup Urine Disease (MSUD) consists of a hypoproteic diet with integration therapy to limit leucine intake, ensuring adequate energy, macronutrients, and micronutrients to prevent catabolism and promote anabolism. We conducted a retrospective cross-sectional study at the Metabolic Rare Disease Unit, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. Patients with MSUD who were over 3 years old, not treated with liver transplantation, and who provided written consent, were included. The study aimed to describe the dietary treatment of patients with MSUD, evaluate growth data, and analyze the effect of a low-protein and semi-synthetic diet on body composition. Data on height, weight, BMI, waist circumference, food intake, physical activity, and DEXA scans were collected. Thirteen subjects (11 classic MSUD, 2 intermediate MSUD) were included, of which 5 < 18 years old. Results indicated that patients with MSUD follow a balanced diet and have body compositions like healthy subjects in terms of fat and lean mass. A high incidence of osteopenia was observed from a young age, with a positive correlation between protein intake and lean mass and a negative correlation between BCAA-free mixture consumption and bone mineral density z-score. The study highlights the positive effects and potential consequences of the semi-synthetic diet on the body composition of patients with MSUD. A similar study involving all Italian metabolic centers treating MSUD is recommended. Full article

Increased surface roughness and discoloration of the direct restorative materials used in pediatric patients affect the longevity of restorations and impair children’s oral health. Many factors can alter these properties. One of these factors is the intake of dietary supplements. It is crucial to predict the properties of restorative materials when exposed to dietary supplements to maintain the dental care of children. Thus, this study aimed to investigate the effect of various syrup-formed dietary supplements on the average surface roughness and color stability of current restorative materials used in pediatric dentistry. Seven different restorative materials (conventional glass ionomer [Fuji IX GP], resin-modified glass ionomer, [Fuji II LC], zirconia-reinforced glass ionomer [Zirconomer Improved], polyacid-modified composite resin [Dyract^®XTRA], bulk-fill glass hybrid restorative [Equia Forte HT Fill], conventional resin composite [Charisma Smart], and resin composite with reactive glass fillers [Cention N]) were tested. The specimens prepared from each type of restorative material were divided into five subgroups according to dietary supplements (Sambucol Kids, Resverol, Imunol, Umca, and Microfer). These specimens were immersed daily in supplement solution over a period of 28 days. Surface roughness and color difference measurements were performed at baseline and at the 7th and 28th days. The color difference and Ra values showed that there was an interaction among the type of restorative material, type of dietary supplement, and immersion time factors (p < 0.05). Whereas lower Ra values were found in the composite resin group, the highest Ra values were found in the conventional glass ionomer group. All supplements caused increasing color difference values, and Resverol and Umca showed higher discoloration values above the clinically acceptable threshold. The intake of dietary supplement type, the immersion time of the dietary supplement, and the restorative material type affected the surface roughness and color stability of the tested direct restorative materials. All of the experimental groups showed higher Ra values than clinically acceptable surface roughness values (0.2 µm). The color difference values also increased with the immersion time. Full article

Since the acceptability of a medicine can significantly impact therapeutic outcomes, this study aimed to determine and compare the preferences of children, parents, and healthcare professionals for the most commonly used pediatric oral medicine formulations (syrup, mini-tablets, oblong tablets, round tablets) addressing all pediatric age groups, 0–<18 years (y). This survey study employed sex-, age-, and participant group-adapted questionnaires for eight cohorts of participants, i.e., children 6–<12 y, adolescents 12–<18 y, parents of children in four age groups (0–<2 y, 2–<6 y, 6–<12 y, and 12–<18 y), nurses, and pediatricians. Descriptive statistics were used for data analysis. In the age groups 0–<2 y and 2–<6 y, mini-tablets were preferred over syrup by all participants. In the age group 6–12 y, solid dosage forms were also preferred over syrup by all participants. In the age group 12–<18 y, healthcare professionals preferred solid dosage forms over syrup. Parents preferred higher amounts of mini-tablets and syrup compared to round and oblong tablets, while adolescents’ preferences did not differentiate between these formulations. Based on the study results and in contrast to current practice, it is suggested to consider solid dosage forms for future age-appropriate medicinal products already for younger age groups. Full article

Strict adherence to a diet is an essential pillar of long-term treatment for many inborn errors of metabolism (IEMs). Tools that educate patients about dietary management can positively condition adherence and prevent morbidity. We designed a free online dietary calculation program (Odimet^®, version 2.1.) for IEMs patients in 2008, updated in 2022, that provides detailed information on the content of amino acids, protein, lipids, carbohydrates, vitamins and minerals in >3000 food products, including specific medical foods for IEM. We analyzed the statistics on visits to Odimet^® to evaluate its usefulness for long-term dietary management during a 5-year period focusing on three periods: pre-pandemic (15 March 2018–14 March 2020); pandemic 1 (15 March 2020–14 March 2021); and pandemic 2 period (15 March 2021–15 March 2023), in 120 patients with the following distribution: 84 patients with phenylketonuria (PKU); 12 with maple syrup urine disease (MSUD); 11 with urea cycle disorders (UCDs); and 13 with classical galactosemia. The evolutionary levels of their specific metabolic markers were evaluated, showing that globally, both pediatric and adult patients maintain a good metabolic control, even during a pandemic (median levels of phenylalanine in pediatric PKU patients 213.4 µmol/L and 482.3 µmol/L in adults; of leucine in MSUD patients: 144.2 µmol/L; of glutamine in UCDs: 726.8 µmol/L; and of galactose 1-phosphate levels in galactosemia: 0.08 µmol/L). The proportion of patients using Odimet^® ranges from 78–100%. An increase in the number of diets being calculated was observed during COVID-19 pandemic. Currently, 14,825 products have been introduced (3094 from the general database, and 11,731 added by users to their own profiles). In 2023 63 emergency dietary adjustments in the studied intoxication-type pathologies were calculated in Odimet^®. Our results suggest that its regular use contributes to maintaining metabolic stability in IEMs patients, allowing them to adapt their menus to their lifestyle, and represents a powerful complementary tele-health tool which can be used to perform remote real-time dietary follow-up. Full article

Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death. Different cardiac phenotypes have been described, among which dilated cardiomyopathy (DCM) is predominant. Despite recent progress in diagnosis and treatment, the natural history of patients with OAs remains unresolved, specifically with regard to the impact of cardiac complications. We therefore performed a retrospective study to address this issue at our Referral Center for Pediatric Inherited Errors of Metabolism. Methods: Sixty patients with OAs (propionic (PA), methylmalonic (MMA) and isovaleric acidemias and maple syrup urine disease) diagnosed from 2000 to 2022 were systematically assessed at baseline and at follow-up. Results: Cardiac anomalies were found in 23/60 OA patients, all with PA or MMA, represented by DCM (17/23 patients) and/or acquired long QT syndrome (3/23 patients). The presence of DCM was associated with the worst prognosis. The rate of occurrence of major adverse cardiac events (MACEs) at 5 years was 55% in PA with cardiomyopathy; 35% in MMA with cardiomyopathy; and 23% in MMA without cardiomyopathy. Liver transplantation was performed in seven patients (12%), all with PA or MMA, due to worsening cardiac impairment, and led to the stabilization of metabolic status and cardiac function. Conclusions: Cardiac involvement was documented in about one third of children diagnosed with classical OAs, confined to PA and MMA, and was often associated with poor outcome in over 50%. Etiological diagnosis of OAs is essential in guiding management and risk stratification. Full article

Respiratory tract infections (RTIs) are usually characterized by mucus hypersecretion. This condition may worsen and prolong symptoms and signs. For this reason, reducing mucus production and improving mucus removal represent relevant aspects of managing patients with RTIs. In this regard, mucoactive drugs may be effective. Mucoactive agents constitute a large class of compounds characterized by different mechanisms of action. Sobrerol is a monoterpene able to fluidify mucus, increase mucociliary clearance, and exert antioxidant activity. Sobrerol is available in various formulations (granules, syrup, nebulized, and suppository). Sobrerol has been on the market for over 50 years. Therefore, the present article revised the evidence concerning this compound and proposed new possible strategies. The literature analysis showed that several studies investigated the efficacy and safety of sobrerol in acute and chronic RTIs characterized by mucus hyperproduction. Seven pediatric studies have been conducted with favorable outcomes. However, the regulatory agencies recently reduced the treatment duration to three days. Therefore, a future study will test the hypothesis that a combination of oral and topical sobrerol could benefit children and adults with frequent respiratory tract infections. The rationale of this new approach is based on the concept that mucus accumulation could be a risk factor for increased susceptibility to infections. Full article

Background: Coronavirus disease 2019 (COVID-19) has rapidly spread worldwide and is characterized by different presentations ranging from asymptomatic to severe pneumonia. COVID-19 affects all age groups, including pediatric patients. We observed numerous children complaining of a cough post-COVID-19, even if it was trivial. The most reported persistent symptoms after recovery from COVID-19 were insomnia, coughing, fatigue, dyspnea, loss of taste and/or smell, and headache. To date, residual cough post-COVID-19 has been reported in pediatrics and adolescents. Method: we conducted a retrospective study, with a self-administered questionnaire by the patient or caregiver, 12 months post-COVID-19-infection. Result: A total of 94.8% of patients were Saudi citizens and were mainly from the southern region of Saudi Arabia (50.0%). Mothers (64.4%) submitted most of the results. The ages were as follows: 6–14 years (51.0%), 3–5 years (32.3%), and younger than 2 years of age (only 16.7%). Females accounted for 41.7% of those studied. Nearly half of the patients (48.5%) had had a previous COVID-19 infection in 2022, with only 2.1% infected in 2019. Only 27/194 (13.9%) patients required hospital admission, and 7 of them (4.2%) required intensive care treatment. A total of 179 (92.2%) patients still reported persistent symptoms 4 weeks post-COVID-19-infection. A cough was reported in 69.8% of patients, followed by cough and wheezing in 12.3%. The cough was described as dry in 78.0% and nocturnal in 54.1%, while 42.5% did not notice any diurnal variation. For those reporting residual cough, 39.3% found that it affected school attendance and daily activities, 31.1% reported associated chest pain, 51.9% associated it with wheezing, and 27.1% associated it with shortness of breath. For 54.4%, the residual cough lasted less than one month, while 31.4% reported a 1–2 month duration. Only 1.0% had a duration of cough of more than 3 months. For cough relief, 28.2% used bronchodilators, 19.9% used cough syrup, 16.6% used a combination of bronchodilators and steroid inhalers, and 1.7% used antibiotics. Surprisingly, 33% attempted herbal remedies for cough relief. Sesame oil was used the most (40.0%), followed by a mixture of olive oil and sesame oil (25.0%), and 21.7% used male frankincense. The majority (78.4%) sought medical advice for their post-infection cough, either from general pediatricians (39.5%) or via specialist pediatric pulmonology consultations (30.9%). A total of 11.0% with a residual cough reported having pets at home, while 27.2% reported secondhand smoke exposure in the household. Before infection with COVID-19, only 32.6% were diagnosed with asthma, while 68.2% reported a diagnosis of atopic skin. Conclusions: There was a high prevalence of residual cough post-COVID-19, extended for a minimum of two months, and the characteristics of the cough were very similar to those of asthmatic patients. There was still a high prevalence of using cough syrup and herbal remedies, especially olive oil, sesame oil, and male frankincense. A residual cough adversely affected school attendance in daily activities, and there was a high prevalence of other siblings in the family being affected. The study showed that a minority of patients were seen by the pulmonologist; luckily, long COVID was rare in our study, and so further studies are highly needed to confirm the association with asthma. More educational programs are highly needed regarding herbal remedies and cough syrup. Full article

Pantoprazole is a model substance that requires dosage form adjustments to meet the needs of all patients. Pediatric pantoprazole formulations in Serbia are mostly compounded as capsules (divided powders), while in Western Europe liquid formulations are more common. The aim of this work was to examine and compare the characteristics of compounded liquid and solid dosage forms of pantoprazole. Three syrup bases were used: a sugar-free vehicle for oral solution (according to USP43-NF38), a vehicle with glucose and hydroxypropyl cellulose (according to the DAC/NRF2018) and a commercially available SyrSpend Alka base. Lactose monohydrate, microcrystalline cellulose and a commercially available capsule filler (excipient II, composition: pregelatinized corn starch, magnesium stearate, micronized silicon dioxide, micronized talc) were used as diluents in the capsule formulations. Pantoprazole concentration was determined by the usage of the HPLC method. Pharmaceutical technological procedures and microbiological stability measurements were performed according to the recommendations of the EP10. Although dose appropriate compounding with pantoprazole is suitable using both liquid vehicles as well as solid formulations, chemical stability is enhanced in solid formulation. Nevertheless, according to our results, if liquid formulation is a pH adjusted syrup, it could be safely kept in a refrigerator for up to 4 weeks. Additionally, liquid formulations could be readily applied, while solid formulation should be mixed with appropriate vehicles with higher pH values. Full article

Maple syrup urine disease (MSUD) is a metabolic disorder characterized by a difficulty to digest and process proteins necessary for growth. To monitor and maintain the ideal growth of children with MSUD, caregivers need to carefully control the consumption of harmful branched-chain amino acids (BCAAs). The dietary limits of amino acids for MSUD patients are recommended and controlled by pediatricians and metabolic dietitians according to age, height, weight, and the prevailing percentage of amino acids in the body. This study introduces an intelligent dietary tool called MSUD Baby Buddy for caregivers of MSUD patients that tracks the amino acids intake out of baby formulas for babies 0–6 months old. This tool aims to provide accurate recommendations of the appropriate daily intake of protein and BCAAs based on the patients’ data, plasma BCAAs, and formula preferences. We use a knowledge-based system, including knowledge acquisition and verification, as well as knowledge management tool validation, and the ripple-down rules are employed for building the system. MSUD Baby Buddy can support the maintenance of adequate amino acid levels and increase awareness about the control of BCAAs. The average usability of MSUD Baby Buddy is 84.25, indicating that the tool is intuitive and may help caregivers to easily determine the recommended doses of formula based on patients’ biometric data and preferred formula. On the other hand, interviews with metabolic dietitians revealed some drawbacks, which were addressed to further improve the tool. MSUD Baby Buddy is expected to help caregivers of MSUD patients to independently track nutrient intake and reduce the number of visits to the pediatrician and metabolic dietitian. Full article

A metabolic disorder is due to a gene mutation that causes an enzyme deficiency which leads to metabolism problems. Maple Syrup Urine Disease (MSUD) is one of the most common and severe hereditary metabolic disorders in Saudi Arabia. Patients and families were burdened by complex and regular dietary therapy menus because of the lack of information on food labels, it was also difficult to keep track of MSUD’s typical diet. The prototype smart plate system proposed in this work may help patients with MSUD and their caregivers better manage the patients’ MSUD diet. The use of knowledge-based, food identification techniques and a device could provide a support tool for self-nutrition management in pediatric patients. The requirements of the system are specified by using questionaries. The design of the prototype is divided into two parts: software (mobile application) and hardware (3D model of the plate). The knowledge-based mobile application contains knowledge, databases, inference, food recognition, food plan, monitor food plan, and user interfaces. The hardware prototype is represented in a 3D model. All the patients agreed that a smart plate system connected to a mobile application could help to track and record their daily diet. A self-management application can help MSUD patients manage their diet in a way that is more pleasant, effortless, accurate, and intelligent than was previously possible with paper records. This could support dietetic professional practitioners and their patients to achieve sustainable results. Full article