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Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). NDI can be inherited or acquired. NDI can result from genetic abnormalities, such as mutations in the vasopressin V2 receptor (AVPR2) or the aquaporin-2 (AQP2) water channel, or acquired causes, such as chronic lithium therapy. Congenital NDI is a rare condition. Mutations in AVPR2 are responsible for approximately 90% of patients with congenital NDI, and they have an X-linked pattern of inheritance. In approximately 10% of patients, congenital NDI has an autosomal recessive or dominant pattern of inheritance with mutations in the AQP2 gene. In 2% of cases, the genetic cause is unknown. The main symptoms at presentation include growth retardation, vomiting or feeding concerns, polyuria plus polydipsia, and dehydration. Without treatment, most patients fail to grow normally, and present with associated constipation, urological complication, megacystis, trabeculated bladder, hydroureter, hydronephrosis, and mental retardation. Treatment of NDI consist of sufficient water intake, low-sodium diet, diuretic thiazide, sometimes in combination with a cyclooxygenase (COX) inhibitor (indomethacin) or nonsteroidal anti-inflammatory drugs (NSAIDs), or hydrochlorothiazide in combination with amiloride. Some authors note a generally favorable long-term outcome and an apparent loss of efficacy of medical treatment during school age. [ABSTRACT FROM AUTHOR]

Background: Acute respiratory failure refers to a condition in which the respiratory system is unable to adequately supply oxygen to the body to effectively remove carbon dioxide, leading to impaired gas exchange and potentially life-threatening complications. This condition can result from various factors such as respiratory infections, lung diseases, neuromuscular disorders, or trauma, and it can present with symptoms such as increased respiratory effort, tachypnea, cyanosis and altered mental status. Objective: The purpose of this study is to assess the correspondence in between the clinical presentations and the paraclinical findings in pediatric patients experiencing acute respiratory failure. Material and methods: For this study, a retrospective study was conducted including 160 patients admitted to Pediatric Clinic I Targu-Mures diagnosed with acute respiratory failure during the period 01.01.2023 to 01.01.2024. The patients were between 28 days and 18 years old. The following data was extracted from each patient's medical record: sex, age, clinical manifestations, laboratory results, diagnosis, and treatment. Results : 70% of the cases presented SpO2 under 92% at admission. The most frequently encountered clinical symptom was dyspnea (39%), followed by coughing (31%) and fever (30%). The most frequent pathological element observed during the physical examination was paleness (56%), followed by tachypnea (53%), intercostal retraction and tachycardia (50%), decreased vesicular murmur (45%), perioral and perinasal cyanosis (42%), suprasternal retraction (37%), crepitant rales (33%) and harsh vesicular murmur (30%). Statistical analysis revealed indicators of correspondence between certain variables, demonstrating a statistically significant correlation in between children with asthma and pericarditis (r=, p<0,001), chest X-ray with diffuse opacities and Acinetobacter etiological agent (r=, p<0,01) as well as VSR etiological agent and sibilant rales (r=, p<0,001). Conclusions: Most pediatric patients with respiratory failure tend to present SpO2 values below 92%. Common clinical symptoms include dyspnea and cough, associated with paleness and tachypnea. The statistical correlations suggest potential relationships between specific etiological agents and clinical manifestations, which can aid in diagnosis and treatment planning. [ABSTRACT FROM AUTHOR]

Introduction: Infant mortality, measuring the deaths of newborns in their first year of life, holds a special position in demographic analysis. Romania is among the EU countries with the highest child mortality rate and the lowest life expectancy at birth, although the infant mortality rate has decreased by 50% in 2009 compared to 2000. The purpose of the paper is to analyze the medical and social factors responsible for child mortality by analyzing epidemiological, demographic, pediatric medical conditions and living conditions. Material and methods: Retrospective study. The study group includes 94 patients, aged 0-18 years, hospitalized and deceased at the Emergency County Hospital Tîrgu-Mureş, between 2013-2017. The followed parameters: age, sex, birthplace, living conditions, family, cause of death, associated diseases. Results: Majority of deaths were of infants under 1 year (55%). Difficulty in access of health services and hospitalization in severe conditions explains the 3-fold increase in deaths among rural patients (73%), plus the fact that only 30% had adequate living conditions. Associated cardiovascular diseases (18% congenital heart diseases), malignancies (10%) and neurological diseases (21%) are risk factors for death. Sepsis (62.2%) and lower respiratory tract infections (77.66% pneumonia) were the main cause of death. Conclusions: Improving access to medical services, living conditions, parents education are factors that can reduce the mortality rate among children. [ABSTRACT FROM AUTHOR]

Introduction: A diabetic ketoacidosis patient with no history of diabetes can be difficult to diagnose because most children present vague symptoms. Purpose: The study is justified by the increased incidence of ketoacidosis in children with type 1 diabetes and the severity of possible failure without intervention on time. Materials and methods: A retrospective study of pediatric patients, who were admitted to First and Second Pediatrics Clinic of Mures County. The data collected include the demographic data, clinical and biochemical characteristics, different correlations were established. Results: The highest number of cases was observed in 2017. Patients aged 10-15 years (41.7%) and urban area (53%) more frequently experience episodes of ketoacidosis. The causes for the recurrent ketoacidosis episode are the presence of associated pathology (more frequently in the respiratory system), the inadequacy of insulin doses and inappropriate diet. The mean age of those who refuse insulin is 15.5 years ± 1.3DS. Polyuria, polydipsia and fatigability are present at onset in almost all patients. Abdominal pain is important to consider because there is a risk of diagnostic errors (2 cases - 4.1%). Most patients have symptoms between 7-14 days until diagnosis (40.82%). The mean blood glucose for the inaugural episode was 540 mg/dl and the glycosylated hemoglobin was 12.4 ± 2.1% DS. Conclusions: In newly diagnosed patients, DKA may be "inaugural", and in patients with known diabetes, precipitating factors are insulin delivery errors or infectious diseases. [ABSTRACT FROM AUTHOR]