Cystic fibrosis management in pediatric population-from clinical features to personalized therapy.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In 1949, it's been identified as a monogenic disease and was thought to primarily affect individuals of Northern European descent. It was the most prevalent autosomal recessive disease that shortens life. With the availability of multiple testing methodologies nowadays, there is a chance to create novel and enhanced treatment options. Even in the absence of a high sweat chloride test (SCT) result, the discovery of two causal mutations is diagnostic for cystic fibrosis (CF). For a CF diagnosis, however, at least two positive E sweat chloride tests are still required. In order to achieve early and active intervention to manage cystic fibrosis (CF) and its comorbidities, treatment regimens for pediatric patients should be evaluated, improved, and closely monitored. New developments in the treatment of cystic fibrosis (CF) have led to the development of medications derived from molecules that target the pathogenetic pathway of the illness. These options are very efficient and allow pediatric patients to receive individualized care. However, in order to better direct patient care and enhance patient outcomes, it is crucial to research uncommon CF mutations, which can provide crucial information about the prognosis of the disease and the relationships between genotype and phenotype. To ensure the success of creating novel, safer, and more efficient treatment approaches, a deeper understanding of the pathogeny of the illness is required. In the age of customized medicine, genetic research will be essential to improving patient care and quality of life for those with uncommon mutations.

New Insights into the Role of INSL-3 in the Development of Cryptorchidism.

Cryptorchidism, defined as the failure of at least one or both testicles to descend into the scrotal pouches, is the most frequent (1.6-9% at birth, 1/20 males at birth) congenital anomaly encountered in newborn males, resulting in one of the most frequent causes of non-obstructive azoospermia in men. Similar to other congenital malformations, cryptorchidism is thought to be caused by endocrine and genetic factors, combined with maternal and environmental influences. The etiology of cryptorchidism is unknown, as it involves complex mechanisms aiming to control the testicular development and descent from their initial intra-abdominal location in scrotal pouches. The implication of insulin-like 3 (INSL-3) associated with its receptor (LGR8) is critical. Genetic analysis discloses functionally deleterious mutations in INSL3 and GREAT/LGR8 genes. In this literature review, we discuss and analyze the implication of INSL3 and the INSL3/LGR8 mutation in the occurrence of cryptorchidism in both human and animal models.

Nosocomial Infections Affecting Newborns with Abdominal Wall Defects.

Abdominal wall defects are serious birth defects, with long periods of hospitalization and significant costs to the medical system. Nosocomial infection (NI) may be an additional risk factor that aggravates the evolution of newborns with such malformations. METHODS: in order to analyze the factors that may lead to the occurrence of NI, we performed a retrospective study over a period of thirty-two years (1990-2021), in a tertiary children's hospital; 302 neonates with omphalocele and gastroschisis were eligible for the study. RESULTS: a total of 33.7 % patients were infected with one or more of species of bacteria or fungi. These species were Enterobacteriaceae, Pseudomonas aeruginosa and Acinetobacter spp., Staphylococcus spp., Enterococcus spp. or Candida spp., but the rate of NI showed a significant decrease between the 1990-2010 and 2011-2021 period (p = 0.04). The increase in the number of surgeries was associated with the increase in the number of NI both for omphalocele and gastroschisis; in the case of gastroschisis, the age of over 6 h at the time of surgery increased the risk of infection (p = 0.052, marginal statistical significance). Additionally, for gastroschisis, the risk of NI was 4.56 times higher in the presence of anemia (p < 0.01) and 2.17 times higher for the patients developing acute renal failure (p = 0.02), and a hospitalization period longer than 14 days was found to increase the risk of NI 3.46-fold (p < 0.01); more than 4 days of TPN was found to increase the NI risk 2.37-fold (p = 0.015). Using a logistic regression model for patients with omphalocele, we found an increased risk of NI for those in blood group 0 (OR = 3.8, p = 0.02), in patients with a length of hospitalization (LH) of ≥14 days (OR = 6.7, p < 0.01) and in the presence of anemia (OR = 2.5, p = 0.04); all three independent variables in our model contributed 38.7% to the risk of NI. CONCLUSION: although in the past 32 years we have seen transformational improvements in the outcome of abdominal wall defects, there are still many factors that require special attention for corrections.

Exploring the Importance of Gender, Family Affluence, Parenting Style and Loneliness in Cyberbullying Victimization and Aggression among Romanian Adolescents.

The increasing phenomenon of cyberbullying among adolescents needs parental, educational, and social intervention. The study aimed to identify the prevalence of cyberbullying among Romanian adolescents and the importance of gender, family-related factors, self-esteem, and parental styles in both victims and perpetrators. A total of 835 adolescents aged 10-19 years were included in the research. An online questionnaire was specially constructed for this research, gathering socio-demographic and family-related data along with information about cyberbullying as a victim, aggressor, or bystander, and strategies used in order to deal with it. Four psychological scales were used to evaluate self-esteem, loneliness, cybervictimization/cyberaggression, and parental style. (3) Results showed that the most common age for a personal smartphone is M = 10.24 ± 2.43. The main reasons why students use these networks are primarily chatting and fun and less for academic tasks. During the week, adolescents spend 5.53 ± 2.75 h on social media, while during weekends, the duration of smartphone usage almost doubles. Girls are the most common victims of cyberbullying, and less than three-quarters of students believe that aggressors can be both girls and boys, and only a quarter of them have reported an incident. Family affluence, the relationship with parents and classmates, the presence of loneliness and sociodemographic factors were found to be in a strong relationship with the presence of aggression and/or victimization among adolescents. Cyberaggression was found to be positively correlated with the aggressive parental style and negatively correlated with the compassionate and avoidant parental styles. Results are crucial for identifying cyberbullying actors and preventing the negative effects of cyberbullying on psychological, social, and academic life for students, parents, and teachers.

uNGAL Predictive Value for Serum Creatinine Decrease in Critically Ill Children.

Acute kidney injury (AKI) occurs frequently in critically ill children, having an incidence of up to 26.9% and is associated with high morbidity and mortality in pediatric intensive care units (PICU). Currently, the decrease in the glomerular filtration rate is calculated using the serum creatinine levels. Nevertheless, there may be a 48 h delay between the renal injury and measurable increase in creatinine. Urinary neutrophil gelatinase-associated lipocalin (uNGAL) has been validated in relation to cardiopulmonary bypass in children, being able to detect AKI before the functional change proven by the rise in serum creatinine. Our aim was to study the utility of using uNGAL in the management of critical pediatric patients admitted to our hospital in a six month period, more specifically, its capacity to predict AKI development, alone and in the association with the renal angina index (RAI). Twenty-eight critically ill children aged from 1 day to 15 years have been included. We found that an increase in uNGAL in day 1 of admission in the PICU was significantly correlated with a decrease in creatinine clearance but not anymore in day 3. However, in our sample uNGAL did not show a significant predictability for AKI development nor the supplementary incorporation of RAI into the prediction model. Therefore, apart from cardiac surgery, the efficacy and utility or uNGAL in the management of critically ill children is still questionable. For the best prediction, we will need to incorporate not only the RAI or other PICU scores, but other biomarkers such as KIM-1, urinary cystatin, and IL 18 in larger samples.

Ovarian teratoma in a teenager causing ureterohydronephrosis: Case report and literature review.

RATIONALE: Teratomas are solid tumors that may occur in both gonadal and extragonadal locations, depending on the age of the child. Benign cystic teratomas are relatively common tumors among women of reproductive age, but they can occur at any age. The clinical presentation is not specific. They can be found incidentally when patients are investigated for other conditions or they can present as emergencies when the ovarian teratoma is torsioned or ruptured. PATIENT CONCERNS: We present the case of a 17-year-old adolescent girl that was seen in our emergency department on several occasions for recurrent episodes of abdominal pain ongoing for 6 months. DIAGNOSIS: An ultrasonography (US) was performed as an outpatient and a left ovarian mass was found along with right ureterohydronephrosis (UHN). Further assessment of the mass was done by abdominal and pelvic CT and tumoral markers. CT appearance was more suggestive of a teratoma. INTERVENTIONS: She underwent laparotomy with complete excision of the tumor. OUTCOME: The patient had an uneventful recovery. A renal US follow up showed reduction of the dilatation, demonstrating that the condition was secondary to tumor compression. LESSONS: In a teenager with nonspecific symptoms, a high suspicion index for tumors is mandatory. An early diagnosis and management avoid complications like UHN.

Third-Generation Cephalosporin-Loaded Chitosan Used to Limit Microorganisms Resistance.

From their discovery, antibiotics have significantly improved clinical treatments of infections, thus leading to diminishing morbidity and mortality in critical care patients, as well as surgical, transplant and other types of medical procedures. In contemporary medicine, a significant debate regarding the development of multi-drug resistance involves all types of pathogens, especially in acute care hospitals due to suboptimal or inappropriate therapy. The possibility of nanotechnology using nanoparticles as matrices to encapsulate a lot of active molecules should increase drug efficacy, limit adverse effects and be an alternative helping to combat antibiotic resistance. The major aim of this study was to obtain and to analyze physico-chemical features of chitosan used as a drug-delivery system in order to stop the antibiotic resistance of different pathogens. It is well known that World Health Organization stated that multidrug resistance is one of the most important health threats worldwide. In last few years, nano-medicine emerged as an improved therapy to combat antibiotic-resistant infections agents. This work relies on enhancement of the antimicrobial efficiency of ceftriaxone against gram(+) and gram(-) bacteria by antibiotic encapsulation into chitosan nanoparticles. Physicochemical features of ceftriaxone-loaded polymer nanoparticles were investigated by particle size distribution and zeta potential, Fourier-transform infrared spectroscopy (FTIR), Thermal Gravimetric Analysis (TG/TGA), Scanning Electron Microscopy (SEM) characteristics techniques. The obtained results revealed an average particle size of 250 nm and a zeta potential value of 38.5 mV. The release profile indicates an incipient drug deliverance of almost 15%, after 2 h of approximately 83%, followed by a slowed drug release up to 24 h. Characteristics peaks of chitosan were confirmed by FTIR spectra indicating a similar structure in the case of ceftriaxone-loaded chitosan nanoparticles. A good encapsulation of the antibiotic into chitosan nanoparticles was also provided by thermo-gravimetric analysis. Morphological characteristics shown by SEM micrographs exhibit spherical nanoparticles of 30-250 nm in size with agglomerated architectures. Chitosan, a natural polymer which is used to load different drugs, provides sustained and prolonged release of antibiotics at a specific target by possessing antimicrobial activity against gram(+) and gram(-) bacteria. In this research, ceftriaxone-loaded chitosan nanoparticles were investigated as a carrier in antibiotic delivery.

A histopathological diagnosis of mesenteric cystic lymphangioma, clinically misdiagnosed as simple mesenteric cyst - case report.

Abdominal cystic lymphangiomas are relatively rare congenital malformations, predominantly found in the pediatric age group. They are usually found in the head and neck of affected children. Lymphangioma of the small-bowel mesentery is rare, having been reported for less than 1% of all lymphangiomas. The gross and histopathological findings may resemble benign multicystic mesothelioma and lymphangiomyoma. The immunohistochemical study for factor VIII-related antigen, D2-40, calretinin and human melanoma black-45 (HMB-45) is essential for diagnosis. Factor VIII-related antigen and D2-40 are positive in lymphangioma but negative in benign multicystic mesothelioma. HMB-45 shows positivity in the smooth-muscle cells around the lymphatic spaces of the lymphangiomyoma. This report describes a case of a large mesenteric lymphatic cyst identified in the neonatal period. Early diagnosis was possible due to the prenatal imagistic methods. Fetal ultrasound identified in the 17th week of gestational life an abdominal tumor that increased with fetal growth. The anatomopathological differential diagnosis and modalities of treatment are also discussed.

Neisseria meningitidis Serogroup C Causing Primary Arthritis in a Child: Case Report.

INTRODUCTION: Neisseria meningitidis (N. meningitidis) is associated with severe invasive infections such as meningitis and fulminant septicemia. Septic arthritis due to N. meningitidis is rare and bone infections have been reported exceptionally. We report the case of a 1-year old girl who presented with a painful, swollen right knee, accompanied by fever and agitation. Arthrocentesis of the right knee, while patient was under anesthesia, yielded grossly purulent fluid, so we made arthrotomy and drainage. The culture from synovial fluid revealed N. meningitidis, sensitive to Ceftriaxone. The patient received intravenous antibiotherapy with Ceftriaxone. The status of the patient improved after surgical drainage and intravenous antibiotic therapy. She recovered completely after 1 month. CONCLUSION: This observation illustrates an unusual presentation of invasive meningococcal infection and the early identification of the bacteria, combined with the correct treatment, prevent the complications and even death.

Quality of life of patients with esophageal replacement for congenital and acquired esophageal anomalies.

AIM: To assess the long-term quality of life (QoL) and symptoms experienced by patients who underwent esophageal replacement for congenital and acquired children esophageal pathology. MATERIAL AND METHODS: The study group comprised 71 patients divided into 2 groups, group I: 34 patients who underwent gastric tube esophagoplasty, and group II: 37 patients who underwent colic tube esophagoplasty. QoL score was assessed using a 24-item original questionnaire covering aspects of eating, disease-specific symptoms, physical and psychological development, and social integration. RESULTS: QoL scores based on patient and parental responses were very close. Long-term postoperative functional outcomes for the two groups were comparable. CONCLUSIONS: The QoL scores and general life status were not influenced by the used technique and this pathology should be approached according to the particularity of each case and surgeon's personal experience and preference.