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Agenesis of the corpus callosum is a rare congenital condition, present at birth, characterized by the partial or complete absence of the corpus callosum. Although the exact causes are usually unknown, the condition can be inherited either as an autosomal recessive trait or as an X-linked dominant trait [1]. Alternatively, it may result from an infection or injury during the 20th to 22nd weeks of pregnancy, which can lead to disruptions in the development of the fetal brain, or it may be caused by toxic factors, such as fetal alcohol syndrome [2]. We present the case of a 2-month-old male patient with acute surgical pathology that began at birth and rapidly progressed to severe infection, requiring sustained antibiotic treatment and assisted respiration. The presence of muscular hypotonia and tonic-clonic seizures at home, following the first hospitalization, necessitated readmission to another university clinic, where he was also diagnosed with agenesis of the corpus callosum. The management of this case required special attention to clinical manifestations, rapid identification of complications, appropriate therapeutic management, and essential collaboration among members of the medical team. [ABSTRACT FROM AUTHOR]

Background and Objectives: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these patients. Materials and Methods: Eighteen patients with PKU from two Romanian reference centers were compared to eighteen non-PKU controls, matched for age and gender. The comparisons used weight-for-height, weight-for-age, height/length-for-age, and body mass index-for-age z-scores from birth to three years of age. Results: The PKU study group consisted of nine boys and nine girls, with a median follow-up period of thirty-six months (interquartile range = 9.75). While median values of all four growth metrics remained within the normal range across the entire study period, weight-for-age z-scores were significantly lower in PKU patients throughout most of the study (p < 0.001). Conclusions: The persistent lower weight-for-age z-scores of the PKU patients compared to controls indicate that ongoing monitoring and potential adjustments in dietary therapy may be necessary to further optimize growth outcomes. [ABSTRACT FROM AUTHOR]

Food neophobia involves avoiding new foods due to reluctance, aversion, or disgust. The Food Neophobia Scale (FNS) is the most reliable and common adult food neophobia test. It helps compare food neophobia across cultures by being translated into numerous languages. This study adapted, translated, and validated the FNS for Romania. This translated version was piloted in November 2023 on 59 students in the medical field from two distinct Romanian cities. Between December 2023 and February 2024, 375 adults were surveyed, representing Romania's population within a 90% confidence interval. The average age of responders was 38.07 years, with a standard deviation of 10.75 and a 4:1 female-to-male sex ratio. The Cronbach's alpha test was used to validate the questionnaire. Our study found that the mean FNS value was 31.86; most Romanian respondents (69.20%) were neutral towards trying new foods, with a significant portion being neophobes (18.21%) outnumbering neophiles (12.59%). When compared to international study results, Romanian adults, on average, exhibited a higher percentage of neophobes compared to those in Korea (13%), Hungary (16.8%), Italy (17%), and Brazil (17.5%), but a lower percentage than those in Lebanon (21.5%). The findings indicate that the translated scale can be utilized to assess neophobia among Romanian speakers. [ABSTRACT FROM AUTHOR]

Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the AIRE gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of AIRE gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions. [ABSTRACT FROM AUTHOR]

In pediatric care, the range of potential diagnoses for arthritis can be relatively extensive, primarily involving infectious and inflammatory causes and, to a lesser extent, oncological conditions. Specifically, when addressing inflammatory causes, differentiating between Juvenile Idiopathic Arthritis (JIA) and Reactive Arthritis (ReA) can prove to be challenging during the first weeks, owing to the lack of specific antibodies in several JIA subtypes. This single-center retrospective study of 108 children with arthritis aimed to evaluate in greater detail the complete blood count (CBC) profiles of children with JIA and ReA in greater detail. The most significant differences were noted in terms of the Systemic Immune-Inflammation Index (SII), with higher values in the JIA group. Moreover, within the JIA group, SII displayed a significant positive correlation with conventional inflammatory biomarkers, specifically C-reactive protein (ρ = 0.579) and Erythrocyte Sedimentation Rate (ρ = 0.430). It was the only independent factor associated with the presence of JIA after adjusting for age (p = 0.030). Also, even with the moderate diagnostic value, the discriminating capacity of SII was superior to those of each of its component CBC parameters according to receiver operating characteristic (ROC) analysis. In summary, this study identified elevated SII values in the JIA group compared to the ReA group, indicating the potential utility of SII as an adjuvant discriminatory marker between these two arthritis forms. [ABSTRACT FROM AUTHOR]

Diabetic ketoacidosis (DKA), a common onset modality of type 1 diabetes mellitus (T1DM), can lead, in rare instances, to the development of cerebral edema, which is the leading cause of mortality in T1DM. Aside from the identification of several demographic and clinical risk factors for cerebral edema, attention has also been drawn to the possible link between systemic inflammation and neuroinflammation. This single-center retrospective study of 98 children with severe DKA aimed to investigate the possible relationship between neutrophil-to-lymphocyte ratio NLR) levels and the presence of cerebral edema. Patients were classified into three groups: alert (n = 28), subclinical cerebral edema (n = 59), and overt cerebral edema (n = 11). Lower blood pH and elevated NLR and blood urea were correlated with the presence of cerebral edema (p < 0.001). After a multivariable risk adjustment for possible confounding factors, such as age, pH, corrected sodium, and BUN, the NLR remained positively associated with cerebral edema (p = 0.045). As such, NLR may be an additional instrument to help practitioners target patients with a higher risk of severe cerebral edema. These patients would benefit from more rigorous neurologic surveillance, enabling the prompt identification of early signs of cerebral edema. [ABSTRACT FROM AUTHOR]