Investigating Potential Correlations between Calcium Metabolism Biomarkers and Periprocedural Clinical Events in Major Cardiovascular Surgeries: An Exploratory Study.

Background: There is emerging but conflicting evidence regarding the association between calcium biomarkers, more specifically ionized calcium and the prognosis of intensive care unit (ICU) postoperative cardiac patients. Methods: Our study investigated the relationship between ionized calcium, vitamin D, and periprocedural clinical events such as cardiac, neurologic and renal complications, major bleeding, vasoactive-inotropic score (VIS), and length of ICU and hospitalization. Results: Our study included 83 consecutive subjects undergoing elective major cardiac surgery requiring cardiopulmonary bypass. The mean age of the participants was 64.9 ± 8.5 years. The majority of procedures comprised isolated CABG (N = 26, 31.3%), aortic valve procedures (N = 26, 31.3%), and mitral valve procedures (N = 12, 14.5%). A difference in calcium levels across all time points (p < 0.001) was observed, with preoperative calcium being directly associated with intraoperative VIS (r = 0.26, p = 0.016). On day 1, calcium levels were inversely associated with the duration of mechanical ventilation (r = -0.30, p = 0.007) and the length of hospital stay (r = -0.22, p = 0.049). At discharge, calcium was inversely associated with length of hospital stay (r = -0.22, p = 0.044). All calcium levels tended to be lower in those who died during the 1-year follow-up (p = 0.054). Preoperative vitamin D levels were significantly higher in those who experienced AKI during hospitalization (median 17.5, IQR 14.5-17.7, versus median 15.3, IQR 15.6-20.5, p = 0.048) Conclusion: Fluctuations in calcium levels and vitamin D may be associated with the clinical course of patients undergoing cardiac surgery. In our study, hypocalcemic patients exhibited a greater severity of illness, as evidenced by elevated VIS scores, and experienced prolonged mechanical ventilation time and hospital stays. Additional larger-scale studies are required to gain a deeper understanding of their impact on cardiac performance and the process of weaning from cardiopulmonary bypass, as well as to distinguish between causal and associative relationships.

Ovarian Cancer-Insights into Platinum Resistance and Overcoming It.

Ovarian cancer is the most lethal gynecologic malignancy. Platinum-based chemotherapy is the backbone of treatment for ovarian cancer, and although the majority of patients initially have a platinum-sensitive disease, through multiple recurrences, they will acquire resistance. Platinum-resistant recurrent ovarian cancer has a poor prognosis and few treatment options with limited efficacy. Resistance to platinum compounds is a complex process involving multiple mechanisms pertaining not only to the tumoral cell but also to the tumoral microenvironment. In this review, we discuss the molecular mechanism involved in ovarian cancer cells' resistance to platinum-based chemotherapy, focusing on the alteration of drug influx and efflux pathways, DNA repair, the dysregulation of epigenetic modulation, and the involvement of the tumoral microenvironment in the acquisition of the platinum-resistant phenotype. Furthermore, we review promising alternative treatment approaches that may improve these patients' poor prognosis, discussing current strategies, novel combinations, and therapeutic agents.

Body size influences heart rate in children aged 6 to 18 years old.

Previous research established age-related normal limits for children's heart rates (HRs). However, children of the same age can have significantly different HRs, depending on whether they are overweight or underweight, tall or short. Studies on children HR have failed to find a clear correlation between HR and body size. The goal of our study was to create Z scores for HR based on weight (W), height (H), body mass index (BMI), and body surface area (BSA) and compare them to normal age-related HR limits. Electrocardiograms were recorded from a total of 22,460 healthy children ranging in age from 6 to 18 years old using BTL machines. A comparison was made between different age groups, in function of W, H, BMI, and BSA, based on the HR that was automatically detected by using the digitally stored electrocardiogram. Z scores were computed for each of the categories that were mentioned. Incremental Z score values between -2.5 and 2.5 were calculated to establish upper and lower limits of HR. The BSA's estimation of HR is the most accurate of the available methods and can be utilized with accuracy in clinical practice. Z scores for HR in children differ in function of the age, W, H, BMI and BSA. The best estimation is based on BSA. The novelty of our study is that we developed Z scores for HR in relation to body size, age and sex, producing a standardized, consistent, and reproducible result without requiring practitioners to learn and remember cutoff values for a wide range of variables across age groups and sexes. Z scores minimize observer and institutional bias, hence generating uniform and reproducible standards.

Low Atrial Rhythm in a Large Cohort of Children from Transylvania, Romania.

Low atrial rhythm (LAR) is an ectopic rhythm originating in the lower part of the right or left atrium. Prior observational studies attempted to quantify the prevalence of low atrial rhythm in the pediatric population, but the observed prevalence was highly variable with relatively small sample sizes. We aimed to characterize low atrial rhythm and determine its prevalence in a large population of 24,316 asymptomatic children from northwestern Transylvania. We found a prevalence of 0.6% (145 children) for low atrial rhythm. Children with LAR had a significantly lower heart rate (mean 78.6 ± 8.3 bpm), than the control sinus rhythm group (85.02 ± 4.5 bpm). Furthermore, a shorter PR interval was seen in children with LAR (132.7 ± 12.7 ms) than in the children from the control group (141.7 ± 5.4; p = 0.0001).There was no significant association between gender and the presence of left LAR (LLAR) or right LAR (RLAR) (p = 0.5876). The heart rate of children with LLAR was significantly higher (81.7 ± 11.6 bpm) than that of the children with LRAR (77.6 ± 11.1 bpm) (p = 0.037). Pediatric cardiologists should recognize low atrial rhythm and be aware that asymptomatic, healthy children can exhibit this pattern, which does not require therapeutic intervention.

Multisystemic Inflammatory Syndrome in Children, A Disease with Too Many Faces: A Single-Center Experience.

BACKGROUND AND AIM: Multisystemic inflammatory syndrome in children (MIS-C) is a rare and severe condition associated with Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV-2) infection in children with onset approximately 4-6 weeks after infection. To date, the precise mechanism that causes MIS-C is not known and there are many questions related to the etiology, risk factors, and evolution of this syndrome. We aimed to describe the clinical manifestations, treatment methods, and disease evolution and analyze the main risk factors for MIS-C in children hospitalized in our clinic. MATERIAL AND METHODS: We performed a retrospective study including children with MIS-C followed-up in the 2nd Pediatric Clinic of the Emergency Clinical Hospital for Children Cluj-Napoca, Romania, for 13 months (November 2020-December 2021). RESULTS: We included in our cohort 34 children (mean age 6.8 ± 4.6 years) who met MIS-C criteria: high and prolonged fever associated with organ dysfunction (heart, lungs, kidneys, brain, skin, eyes, bone marrow or gastrointestinal organs), and autoantibodies and/or polymerase chain reaction positives for SARS-CoV-2. Nineteen patients (55.88%) had a severe form of the disease, with multiorgan failure and shock, and myocardial or respiratory failure. The number of organs affected in the severe forms was significantly higher (more than 6 in 73.70%) than in mild forms (2-3 in 60%). Cardiac dysfunction, hypoalbuminemia, hypertriglyceridemia and hyponatremia were more important in severe forms of MIS-C. These patients required respiratory support, resuscitation with fluid boluses, vasoactive drugs, or aggressive therapy. All patients with mild forms had fully recovered compared to 63.16% in severe forms. The others with severe forms developed long-term complications (dilation of the coronary arteries, premature ventricular contraction, or myocardial fibrosis). Two patients had an extremely severe evolution. One is still waiting for a heart transplant, and the other died (hemophagocytic lymphohistiocytosis syndrome with multiorgan failure). CONCLUSIONS: From mild to severe forms with multiorgan failure, shock, and many other complications, MIS-C represents a difficult challenge for pediatricians, who must be aware of the correct diagnosis and unpredictable, possibly severe evolution.

Influenza A, Influenza B, and SARS-CoV-2 Similarities and Differences - A Focus on Diagnosis.

In late December 2019, the first cases of viral pneumonia caused by an unidentified pathogen were reported in China. Two years later, SARS-CoV-2 was responsible for almost 450 million cases, claiming more than 6 million lives. The COVID-19 pandemic strained the limits of healthcare systems all across the world. Identifying viral RNA through real-time reverse transcription-polymerase chain reaction remains the gold standard in diagnosing SARS-CoV-2 infection. However, equipment cost, availability, and the need for trained personnel limited testing capacity. Through an unprecedented research effort, new diagnostic techniques such as rapid diagnostic testing, isothermal amplification techniques, and next-generation sequencing were developed, enabling accurate and accessible diagnosis. Influenza viruses are responsible for seasonal outbreaks infecting up to a quarter of the human population worldwide. Influenza and SARS-CoV-2 present with flu-like symptoms, making the differential diagnosis challenging solely on clinical presentation. Healthcare systems are likely to be faced with overlapping SARS-CoV-2 and Influenza outbreaks. This review aims to present the similarities and differences of both infections while focusing on the diagnosis. We discuss the clinical presentation of Influenza and SARS-CoV-2 and techniques available for diagnosis. Furthermore, we summarize available data regarding the multiplex diagnostic assay of both viral infections.

Current and New Challenges in the Management of Pancreatic Neuroendocrine Tumors: The Role of miRNA-Based Approaches as New Reliable Biomarkers.

Pancreatic neuroendocrine tumors (PanNETs) are rare tumors; however, their incidence greatly increases with age, and they occur more frequently among the elderly. They represent 5% of all pancreatic tumors, and despite the fact that low-grade tumors often have an indolent evolution, they portend a poor prognosis in an advanced stages and undifferentiated tumors. Additionally, functional pancreatic neuroendocrine tumors greatly impact quality of life due to the various clinical syndromes that result from abnormal hormonal secretion. With limited therapeutic and diagnostic options, patient stratification and selection of optimal therapeutic strategies should be the main focus. Modest improvements in the management of pancreatic neuroendocrine tumors have been achieved in the last years. Therefore, it is imperative to find new biomarkers and therapeutic strategies to improve patient survival and quality of life, limiting the disease burden. MicroRNAs (miRNAs) are small endogenous molecules that modulate the expression of thousands of genes and control numerous critical processes involved in tumor development and progression. New data also suggest the implication of miRNAs in treatment resistance and their potential as prognostic or diagnostic biomarkers and therapeutic targets. In this review, we discusses the current and new challenges in the management of PanNETs, including genetic and epigenetic approaches. Furthermore, we summarize the available data on miRNAs as potential prognostic, predictive, or diagnostic biomarkers and discuss their function as future therapeutic targets.

Anatomical-MRI Correlations in Adults and Children with Hypertrophic Cardiomyopathy.

Hypertrophic Cardiomyopathy (HCM) is the most frequent hereditary cardiovascular disease and the leading cause of sudden cardiac death in young individuals. Advancements in CMR imaging have allowed for earlier identification and more accurate prognosis of HCM. Interventions aimed at slowing or stopping the disease's natural course may be developed in the future. CMR has been validated as a technique with high sensitivity and specificity, very few contraindications, a low risk of side effects, and is overall a good tool to be employed in the management of HCM patients. The goal of this review is to evaluate the magnetic resonance features of HCM, starting with distinct phenotypic variants of the disease and progressing to differential diagnoses of athlete's heart, hypertension, and infiltrative cardiomyopathies. HCM in children has its own section in this review, with possible risk factors that are distinct from those in adults; delayed enhancement in children may play a role in risk stratification in HCM. Finally, a number of teaching points for general cardiologists who recommend CMR for patients with HCM will be presented.

Next Generation Sequencing Technology in Lung Cancer Diagnosis.

Lung cancer is still one of the most commonly diagnosed cancers, and one of the deadliest. The high death rate is mainly due to the late stage of diagnosis and low response rate to therapy. Previous and ongoing research studies have tried to discover new reliable and useful cbiomarkers for the diagnosis and prognosis of lung cancer. Next generation sequencing has become an essential tool in cancer diagnosis, prognosis, and evaluation of the treatment response. This article aims to review the leading research and clinical applications in lung cancer diagnosis using next generation sequencing. In this scope, we identified the most relevant articles that present the successful use of next generation sequencing in identifying biomarkers for early diagnosis correlated to lung cancer diagnosis and treatment. This technique can be used to evaluate a high number of biomarkers in a short period of time and from small biological samples, which makes NGS the preferred technique to develop clinical tests for personalized medicine using liquid biopsy, the new trend in oncology.

Anatomical-MRI Correlations in Adults and Children with Arrhythmogenic Right Ventricular Cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare disease in which the right ventricular myocardium is replaced by islands of fibro-adipose tissue. Therefore, ventricular re-entry circuits can occur, predisposing the patient to ventricular tachyarrhythmias, as well as dilation of the right ventricle that eventually leads to heart failure. Although it is a rare disease with low prevalence in Europe and the United States, many patients are addressed disproportionately for cardiac magnetic resonance imaging (MRI). The most severe consequence of this condition is sudden cardiac death at a young age due to untreated cardiac arrhythmias. The purpose of this paper is to revise the magnetic resonance characteristics of ARVC, including the segmental contraction abnormalities, fatty tissue replacement, decrease of the ejection fraction, and the global RV dilation. Herein, we also present several recent improvements of the 2010 Task Force criteria that are not included within the ARVC diagnosis guidelines. In our opinion, these features will be considered in a future Task Force Consensus.

A Comparative Study between 18F-FDG PET/CT and Conventional Imaging in the Evaluation of Progressive Disease and Recurrence in Ovarian Carcinoma.

The aim of this study is to compare the efficiency of conventional imaging and 18F-FDG PET-CT in detecting progressive disease and recurrences over a period of one year (2018), in the case of ovarian cancer, and also to assess the importance of 18F-FDG PET/CT in changing the course of the treatment for these patients. This study included 29 patients diagnosed in various stages with ovarian carcinoma, most of them of epithelial origin. All patients were evaluated throughout their treatment using 18F-FDG PET/CT and various conventional techniques (computed tomography (CT), magnetic resonance imaging (MRI), abdominal and intravaginal ultrasound, chest X-ray). PET/CT was more useful and effective in our group of patients in detecting progressive disease compared with conventional imaging (37.93% vs. 17.24%) and also in establishing the recurrences (24.14% vs. 6.90%). Moreover, F18-FDG PET-CT led to a therapeutic change in 55.17% of the patients of our group, compared with only 17.24% after conventional imaging. This underlines the crucial aspect of the metabolic changes of tumors that should be assessed alongside the morphological ones, with PET-CT imaging remaining the only viable tool for achieving that at present. PET/CT with 18F-FDG represents one of the most important imaging techniques used in the diagnosis and management of ovarian carcinoma. Our results seem to fall in line with what other authors reported, indicating that 18F-FDG PET-CT is potentially gaining more ground in the management of ovarian carcinoma, by influencing therapeutic strategies and by being able to detect relapse and progression accurately.

Prevalence of Underweight, Overweight and Obesity in School-Aged Children in the Urban Area of the Northwestern Part of Romania.

INTRODUCTION: During the last three decades, there has been an excess weight epidemic due to changes in nutrition and lifestyle. Few data on the prevalence of overweight and obesity in children in Romania were published, without a single study representative at the national level. There are reports on the higher level of overweight and obesity in urban areas compared to rural ones. This study aimed to estimate the prevalence of underweight, overweight, obesity and severe obesity in children enrolled in schools from the urban area. MATERIAL AND METHODS: For this cross-sectional study, children from 177 schools from the urban area of five counties from the northwestern part of Romania were included after the parents signed written informed consent. Anthropometric data were recorded (weight, height) based on World Health Organization (WHO) recommendations and Body-Mass-Index (BMI), and the z-score for BMI were calculated. The nutritional status was estimated using three reference criteria: WHO, International Obesity Task Force (IOTC) and the Center for Disease Control and Prevention (CDC). RESULTS: We analyzed data of 21,650 children (48.19% boys) age between 7 and 18 years. The prevalence of overweight was 13.8%, 16.2% and 20.3%, of obesity was 10.7%, 10.0% and 5.7% and of severe obesity was 5.1%, 1.2% and 1.6% (using WHO, CDC and IOTF cut-offs). Underweight was present in 5.2% (WHO), 6% (CDC) and 2.6% (IOTF). The highest prevalence of overweight (including obesity) was found in children aged 10 years, and the lowest in adolescents at 18 years. Boys have a higher prevalence of excess weight than girls. Using IOTF cut-offs, the prevalence of obesity and severe obesity was lower than using WHO criteria. CONCLUSIONS: The prevalence of overweight (including obesity) in children from the urban area of Western Romania was recorded at alarming levels, higher in boys and at the pre-puberty ages. There are significant differences based on the reference system used. It is important to correctly choose the reference for the definition of overweight and obesity to have the correct estimation of the target for public health measures.

Validation of Normal P-Wave Parameters in a Large Unselected Pediatric Population of North-Western Romania: Results of the CARDIOPED Project.

AIMS: Reference values of the P-wave on 12 lead electrocardiograms are lacking for children and adolescents in Eastern Europe. Hence, the present study is aimed at determining the standard values of the P-wave in children and adolescents based on ECG data from the CARDIOPED project, a large-scale general population of children who participated in a screening program in Transylvania, Romania. METHODS AND RESULTS: A total of 22,411 ECGs of participants aged 6 to 18 years old from a school-based ECG screening were obtained between February 2015 and December 2015 in Transylvania, Romania. Three pediatric cardiologists manually reviewed each ECG. P-wave duration, voltage, axis, and correlation with gender and age were analyzed. The mean P-wave duration was 88 ± 10.7 ms, with a maximum duration of 128 ms. P-wave showed a positive correlation with age but did not differ between sexes. There was a positive correlation between the P-wave duration and the heart rate, but not with the body max index. The mean P-wave axis was 40.4 ± 31.1, and the mean P-wave amplitude was 0.12 ± 0.03 mV. CONCLUSION: In this study on many pediatric subjects, we have provided normal limits for the P-wave in Romanian children aged 6-18 years. Our findings are useful for creating interpretation guidelines for pediatric ECG.

ECG Markers of Cardiovascular Toxicity in Adult and Pediatric Cancer Treatment.

When a cardiologist is asked to evaluate the cardiac toxic effects of chemotherapy, he/she can use several tools: ECG, echocardiography, coronary angiography, ventriculography, and cardiac MRI. Of all these, the fastest and easiest to use is the ECG, which can provide information on the occurrence of cardiac toxic effects and can show early signs of subclinical cardiac damage. These warning signs are the most desired to be recognized by the cardiologist, because the dose of chemotherapeutics can be adjusted so that the clinical side effects do not occur, or the therapy can be stopped in time, before irreversible side effects. This review addresses the problem of early detection of cardiotoxicity in adult and pediatric cancer treatment, by using simple ECG recordings.

Vitamin D and Its Role in the Lipid Metabolism and the Development of Atherosclerosis.

Vitamin D, a crucial hormone in the homeostasis and metabolism of calcium bone, has lately been found to produce effects on other physiological and pathological processes genomically and non-genomically, including the cardiovascular system. While lower baseline vitamin D levels have been correlated with atherogenic blood lipid profiles, 25(OH)D supplementation influences the levels of serum lipids in that it lowers the levels of total cholesterol, triglycerides, and LDL-cholesterol and increases the levels of HDL-cholesterol, all of which are known risk factors for cardiovascular disease. Vitamin D is also involved in the development of atherosclerosis at the site of the blood vessels. Deficiency of this vitamin has been found to increase adhesion molecules or endothelial activation and, at the same time, supplementation is linked to the lowering presence of adhesion surrogates. Vitamin D can also influence the vascular tone by increasing endothelial nitric oxide production, as seen in supplementation studies. Deficiency can lead, at the same time, to oxidative stress and an increase in inflammation as well as the expression of particular immune cells that play a pivotal role in the development of atherosclerosis in the intima of the blood vessels, i.e., monocytes and macrophages. Vitamin D is also involved in atherogenesis through inhibition of vascular smooth muscle cell proliferation. Furthermore, vitamin D deficiency is consistently associated with cardiovascular events, such as myocardial infarction, STEMI, NSTEMI, unstable angina, ischemic stroke, cardiovascular death, and increased mortality after acute stroke. Conversely, vitamin D supplementation does not seem to produce beneficial effects in cohorts with intermediate baseline vitamin D levels.

Diagnostic Performance of F18-FDG PET/CT in Male Breast Cancers Patients.

INTRODUCTION: F18-FDG PET/CT is the most important hybrid imaging used in the diagnostic, staging, follow-up, and treatment evaluation response in cancer patients. However, it is well-known that in breast cancer the use of F18-FDG is not included in the first line protocol of initial diagnostic, both in female and male breast cancer patients. F18-FDG PET/CT is a valuable tool to provide information on extra-axillary lymph node involvement, distant metastases, and other occult primary cancers. This study assesses F18-FDG PET/CT systemic staging in male patients with diagnosed breast cancer and determines detection rates for unsuspected distant metastases and synchronous malignancies. METHODS: We analyzed a number of 170 male patients with breast cancer, seen between 2000-2020, in a tertiary center. From this group, between 2013-2020 a number of 23 patients underwent F18-FDG PET/CT. Rates of upstaging were determined for each case and the detection of other primary malignancies was analyzed. RESULTS: Median age of male breast cancer group was 61.3 y (range, 34-85 y), most had intraductal carcinoma (82.4%) and unsuspected distant metastases, which increased patient stage to IV, observed in 27%. In 4 out 23 patients (17.4%), F18-FDG PET/CT identified synchronous cancers (2 prostate cancers, 1 thyroid and 1 colon cancer). CONCLUSION: F18-FDG PET/CT is a valuable tool to provide information on extra-axillary lymph node involvement, distant metastases, and other occult primary cancers. Baseline F18-FDG PET/CT has a substantial impact on the initial staging and on clinical management in male breast patients and should be considered for use in newly diagnosed patients.

Differentiated Thyroid Cancer in Children in the Last 20 Years: A Regional Study in Romania.

Pediatric thyroid carcinoma is a current area of interest, because there are few studies in this field; the current classification and treatment guidelines are extrapolated from adults, sometimes leading to overly aggressive treatments or incomplete treatment of the disease. The purpose of this retrospective study is to analyze the presentation, diagnosis, treatment, complications, and outcome of children diagnosed with thyroid cancer in the last two decades (2000-2018) at the Oncological Institute "Prof. Dr. Ion Chiricuța" Cluj-Napoca (IOCN) Romania, a tertiary center in a region with environmental influences from both the nuclear fallout of the Chernobyl accident and from iodine deficiency. The results were compared with those obtained in a previous study carried out in the same institution between 1991-2010, and with those obtained in a similar study carried out in Netherlands between 1970-2013, a cohort of children not exposed to the post-Chernobyl fallout. We statistically analyzed 62 patients. Papillary form was present in the majority of cases, and we highlighted the occurrence of thyroid microcarcinoma in children. A total of 85.4% of patients received radioiodine, the total activity being significantly lower compared with the data from literature. In our study, the prognosis of the disease was excellent, with 100% overall survival.

Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.

Vitamin D plays an important role in calcium homeostasis and bone mineralization. Inefficient inactivation of vitamin D leads to a condition called idiopathic infantile hypercalcemia (IIH). In the last decade mutations in CYP24A1, the gene responsible for vitamin D inactivation, were described as the main molecular cause of IIH. In this study, we present a family with two daughters diagnosed with IIH due to two different mutations in CYP24A1 gene. Based on next-generation sequencing (NGS), the elder daughter was diagnosed as carrying the mutations CYP24A1: c.1186C > T; (p.Arg396Trp) and c.428_430del; (p.Glu143del). Within this context, we were able to presymptomatically diagnose her newborn sister using Sanger sequencing technique. Screening for CYP24A1 mutations in families with IIH history helps preventing disease manifestations in newborn siblings. Thus, NGS combined with Sanger sequencing validation opens up the perspective of preventive medicine with great impact on IIH management, where stopping vitamin D administration is enough to prevent disease manifestation, in most cases.

Overview of the pediatric healthcare system in Romania.

Until 1989, Romania was one of the countries of the communist bloc in Europe and its healthcare system was characterized by centralized planning and severe underfunding, with low performance and low quality healthcare. Since 1998, Romania replaced the Semashko model with a social health insurance system, highly centralized under the management of the Ministry of Health as the central administrative authority. After joining the European Union, quality of life increased in our country and there were efforts to improve the quality of healthcare, including pediatric and neonatal care. Still, Romania has the lowest share of health expenditure of gross domestic product among the European Union Member States and the lowest level of expenditure per inhabitant. The Romanian health system is organized on three levels of assistance: primary, secondary and tertiary assistance. This overview presents the organization and the characteristics of pediatric and neonatal healthcare in Romania at all levels, the infrastructure and the human resources, the educational system from medical school to pediatric residency, professional organizations, national health programs, and the child health status in Romania. Infant mortality, the most descriptive single indicator of the quality of a health system, decreased constantly for the last 30 years in Romania, but is still the highest in the European Union. Even though there were great improvements in the healthcare for children, more efforts should be made to assure a better quality of care for the future of our nation, both on the human resources (in great danger due to the brain-drain of medical professionals during the last 12 years), and on the infrastructure plan.

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.