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Introduction and objectives. Renal function is monitored using clinical and imaging methods; however, an early assessment of renal damage is currently achievable by biopsy only. Diffusion Tensor Imaging (DTI) is a method that measures the rate of diffusion along different directions. In the kidney nephrons run radially to the renal pelvis, so diffusion along these structures is expected. The aim of this study is to describe DTI as a tool for evaluation of renal microarchitecture. Materials and Methods. Ten healthy patients were analyzed in this study. For DTI, a free-breathing coronal plane echo-planar imaging (EPI) sequence was performed. Different regions of interest (ROI) were placed and fractional anisotropy (FA) values were measured and compared between cortex and medulla. Finally, tractography was performed with visual display of renal fibers bundles. Results. FA values were significantly different between renal cortex and renal pyramids, with values in medulla the highest (median value of 0.5) suggesting tightly packed fibers, compatible with normal histologic configuration. Tractography revealed bundles of renal tracts in the pyramids with a strictly exterior to interior orientation. Conclusions. FA values obtained by DTI represent a new biomarker that expresses normal architecture of renal tract bundles in the pyramids. Early renal damage is manifested by edema and disruption of renal tracts which can only be assessed by biopsy. However, this kind of damage can be detected by a decrease of fractional anysotropy values measured by DTI, and also visually shown as fewer tracts displayed by tractography. The application of this method is straightforward with short acquisition time. Therefore, the applications of DTI in renal disease are vast, from congenital obstructed uropathy to renal allografts evaluation. [ABSTRACT FROM AUTHOR]

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received off label treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years. [ABSTRACT FROM AUTHOR]

In the end of XX-th century, Romania had over 4000 orizontally HIV infected children. They have received anti- retroviral treatment, and now have children of their own. It is common knowledge that anti-retroviral treatments lead to side effects. The aim of the study is to determine if the children born from mothers that are under medication for about 20 years already are more prone to cardiac abnormalities than other children. [ABSTRACT FROM AUTHOR]

WHO data are still documenting high mortality rate due to acute gastroenteritis in children, worldwide. In the last two decades in Romania there were significant improvements in therapeutic management of the most severe cases, with a 10-fold decrease in mortality rate inflicted by acute hypovolemic shock. The present paper is a practical approach of major emergencies related to acute dehydration, according to PALS (Pediatric Advanced Life Support) and RANP (Reanimation Avancee Neonatale et Pediatrique) guidelines. Pathogenetic mechanisms of acute dehydration are discussed and clinical correlations are presented for hyponatremic, izonatremic and hypernatremic dehydration. Vascular access aspects, amount and nature of fluids used during vascular expansion and infusion rates are briefly summarized. [ABSTRACT FROM AUTHOR]

Birth asphyxia is a severe condition that includes a number of potential pathways of occurrence both in utero and during childbirth. The present study aimed to identify and describe specific macroscopic and microscopic placental injuries in birth asphyxia to serve as an effective tool to stratify the potential further evolution of a newborn, as hypoxic ischemic encephalopathy can be responsible for neonatal death or severe neurological sequelae further, compromising the quality of life of the affected individual. For this purpose, an observational prospective study was conducted over a period of 3 years. A total of 62 patients diagnosed with birth asphyxia, who had a placental histopathological examination performed were enrolled in the study. The control group consisted of 69 term newborns that required neonatal intensive care for at least 3 days, in the same time period, for any other reason and that also had available placental examinations. In the present study, placental histopathological lesions identified in birth asphyxia have been classified according to the Amsterdam Criteria. Data gathered from both groups were analyzed by applying specific statistical tests for each type of variable and hypothesis. Thus, umbilical cord abnormalities were associated with hypoxic ischemic encephalopathy in a statistically significant manner when comparing the birth asphyxia group of newborns with the control group. In addition, a high statistical level of significance was identified for microscopical lesions, such as maternal and fetal vascular malperfusion and the occurrence of hypoxic ischemic syndrome when comparing the two groups (P=0.01). The macroscopic and microscopic placental examination can provide critical information for the evolution of the disease in selected newborns according to the identified lesions., Competing Interests: The authors declare that they have no competing interests., (Copyright: © 2024 Calomfirescu-Avramescu et al.)

Background and Objectives: Familial hypercholesterolemia (FH) is a genetic disease that is massively underdiagnosed worldwide. Affected patients are at high risk of cardiovascular events at young ages. Early intervention in childhood could help prevent heart attacks and cerebral strokes in these patients. Materials and Methods: We conducted an interventional study including 10 patients that previously underwent genetic testing for familial hypercholesterolemia. These patients received lifestyle and diet recommendations that they followed for a year before being reevaluated. Results: Patients with negative genetic testing were able to achieve lower levels in their lipid panel values compared to the patients with positive genetic testing, with lifestyle changes alone. LDL-cholesterol levels decreased by 18.5% in patients without FH while patients genetically confirmed with FH failed to achieve lower LDL-cholesterol levels without medication. Conclusions: Genetic testing for FH is not always part of screening algorithms for FH. Some studies even advise against it. Our study proved the importance of genetic testing for FH when suspecting this disorder and choosing the treatment course for patients.

There is an increasing interest in dyslipidemia in adult patients since it is known to contribute to early cardiovascular disease. Often, dyslipidemia starts in childhood, and it is associated with aggravating lifestyle choices concerning eating habits, such as the tendency to consume processed food and fast food, as well as the tendency to be more and more sedentary. We conducted a retrospective cross-sectional study describing the prevalence of dyslipidemia in a single medical center in Romania and the associated pathology. We evaluated all lipid profiles that were ordered in our clinic over nine years. We included 2413 patients that were evaluated in our clinic in the timeframe 2011-2020. Out of them, 18.23% had high values for LDL-cholesterol. More than a quarter (25.91%) were diagnosed with obesity. 11.37% of the patients with high LDL-cholesterol levels had various metabolic disorders including primary dyslipidemia. A small number of patients with hypercholesterolemia had thyroid disorders (4.10%). Patients with high LDL-cholesterol had various diagnoses ranging from metabolic to neurologic disorders, keeping in mind that there are multiple pathologies that can lead to dyslipidemia. Evaluating children for dyslipidemia is at hand for medical professionals. Screening for dyslipidemia in children would provide the opportunity to prevent rather than treat cardiovascular events.

Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-center cross-sectional showcase study of genetic testing for FH in a Romanian pediatric group. Genetic testing for FH was performed on 20 Romanian pediatric patients, 10 boys and 10 girls, admitted with LDL-cholesterol levels over 130 mg/mL to the National Institute for Mother and Child Health "Alesssandrescu-Rusescu" in 2020. Genetic testing was performed using the Illumina TruSight Cardio panel. We identified pathogenic/likely pathogenic variants that could explain the phenotype in 5/20 cases. The involved genes were LDLR and APOB . Clinical signs that suggest the diagnosis of FH are scarce for the pediatric patient, although it can be diagnosed early during childhood by lipid panel screening. Prevention could prove lifesaving for some of these patients.

Background and Aims: The aim of this study is to assess the lipid profile pattern of pediatric overweight and/or obese patients with Non-Alcoholic Fatty Liver Disease (NAFLD) in relation to IDF Consensus Criteria for Metabolic Syndrome (MetS)., Material and Methods: We conducted a cross-sectional preliminary study on 45 consecutive pediatric patients. Overweight or obese children aged from 3 to 18 years were included. Standardized measurement of blood pressure and anthropometric parameters were performed. Biological evaluation included inflammatory status, lipid profile, glycemic profile, full blood count and liver function tests. Abdominal ultrasound was performed in all patients., Results: Prevalence of MetS was 44.4%. A number of 21 patients (46.7%) had NAFLD. MetS patients had higher risk for NAFLD (OR = 9.5, 95% CI = 2.42-37.24). Also patients with positive familial history of type 2 diabetes had a 6.61 fold higher risk for NAFLD (OR = 6.61, 95% CI = 1.74-25.1). We performed a subgroup analysis in patients under ten years old. Patients under the age of ten which had both NAFLD and MetS met more frequently the hypertriglyceride criterion. After adjusting for age and MetS presence, triglyceride levels independently associated with NAFLD (adjusted R square = 0.46, unstandardized B coefficient = 34.51, 95% CI = 4.01-65.02, p = 0.02)., Conclusion: NAFLD obese patients had higher prevalence of MetS, higher BMI and particular lipid profile pattern. Triglyceride levels independently associated with NAFLD after adjusting for age and MetS presence. According to our findings we suggest early triglyceride testing (even below the age of ten) in selected patients.

Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.

Unlabelled: Neuromuscular diseases represent an important group in pediatric pathology. Immunohistochemistry together with clinical examination and morphologic exam are very important in the diagnosis of neuromuscular disorders., Patients and Methods: One hundred children diagnosed with neuromuscular disorders were included in a prospective-retrospective study in 25 years., Results: There were 58 neurogenic diseases and 42 muscular dystrophies. In positive and differential diagnosis very important were the morphologic and immunohistochemical investigations. Seventy-three percent had positive family history and 27% of dystrophic patients had "de novo" mutations. The most part of the neurogenic disorders were spinal motor atrophies, 91.38%., Conclusions: Neurogenic muscular diseases were the most common neuromuscular diseases in our patient group. The immunohistochemical investigation was very useful in diagnosing some of these cases.

Primary immunodeficiency disorders are a recognized public health problem worldwide. The prototype of these conditions is X-linked agammaglobulinemia (XLA) or Bruton's disease. XLA is caused by mutations in Bruton's tyrosine kinase gene (BTK), preventing B cell development and resulting in the almost total absence of serum immunoglobulins. The genetic profile and prevalence of XLA have not previously been studied in Eastern and Central European (ECE) countries. We studied the genetic and demographic features of XLA in Belarus, Croatia Hungary, Poland, Republic of Macedonia, Romania, Russia, Serbia, Slovenia, and Ukraine. We collected clinical, immunological, and genetic information for 122 patients from 109 families. The BTK gene was sequenced from the genomic DNA of patients with a high susceptibility to infection, almost no CD19(+) peripheral blood B cells, and low or undetectable levels of serum immunoglobulins M, G, and A, compatible with a clinical and immunological diagnosis of XLA. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17 nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions. The mutations were scattered throughout the BTK gene and most frequently concerned the SH1 domain; no missense mutation was detected in the SH3 domain. The prevalence of XLA in ECE countries (total population 145,530,870) was found to be 1 per 1,399,000 individuals. This report provides the first comprehensive overview of the molecular genetic and demographic features of XLA in Eastern and Central Europe.

Erdosteine has positive effects on mucus rheology and transport due to the active metabolite (Metabolite I) which contains a free thiol group. Erdosteine inhibits bacterial adhesiveness and has antioxidant properties. A synergistic effect of erdosteine with various antibiotics has been demonstrated in pharmacological and clinical studies. The present study was multicenter, randomized, double-blind and placebo-controlled. The aims of the study were to compare a combination of erdosteine with amoxicillin against an amoxicillin-placebo combination in pediatric patients with acute lower respiratory tract disease. A total of 158 patients (78 in the erdosteine group and 80 in the placebo group) were treated for 7 +/- 2 days. The efficacy parameters were cough (primary), polypnea, rhonchi, rales and body temperature (all measured at baseline, on Day 3 and at the end of treatment). Safety was assessed by strictly monitoring the occurrence of adverse events and using standard laboratory parameters. The results of the intention-to-treat analysis showed that the severity of cough was decreased by 47% at Day 3 in the erdosteine group with a statistically significant difference compared to placebo, the difference was still significant at the final visit. The decrease in the severity of rales was significantly greater at Day 3 in the erdosteine group than in the placebo group. The incidence of polypnea and rhonchi in the two groups showed similar decreases, an improvement mainly due to the antibiotic. No adverse events occurred and no adverse changes in laboratory parameters were observed. It is concluded that the combination of erdosteine and amoxicillin is a safe medication which is clinically superior to that of the antibiotic combined with placebo, especially in regard to the effects on cough.

The study investigated the response in hemagglutinoinhibiting antibodies (HI) induced by the purified inactivated trivalent influenza vaccine prepared for the epidemic season 1996-1997, administered to a group of 24 human immunodeficiency virus (HIV)-infected children as compared to a group of HIV seronegative controls. The titres of serum HI antibodies were determined before and 30 days after vaccination. The evolution of the immune response in HIV seropositive children showed significant increases against all the antigenic components of influenza vaccine both as concerning the geometrical mean titres of HI antibodies and the protection rate (titres > or = 1:40). However, the amplitude of the immune response reported in the HIV seropositive group was lower, but insignificantly as compared to the HIV seronegative control group. No association between the individual response in HI antibodies and the determined amount of CD4' T lymphocytes was noticed.

114 children with acute respiratory infections were investigated to detect the viral etiological agents. The following methods were used: the direct immunofluorescence technique for the rapid diagnosis from tracheobronchial aspirates and the serological reactions--hemaglutinoinhibition and complement fixation reaction--to determine the increase of antibodies titres. Of 55.2% respiratory infections with a viral etiology, 60.3% represent acute infections of the lower respiratory tract. Due to the influenza epidemic reported between October 1996 and February 1997 (with a higher number of cases than in the last 5 years), most viral respiratory infections were caused by influenza viruses (57.14%). The direct immunofluorescence technique proved to be sensitive and specific in detecting the viral etiological agents which caused respiratory infections. Thus, using this technique, a positive diagnosis was made in 68.2% of cases, of which 49.2% were positive by the hemagglutination and complement fixation reactions, too. The test specificity could have been higher if the pathological products had been prelevated within the first three days after the onset of the disease.

A previously healthy 9-month-old girl, obese (12,500 gm) with sudden onset of hyperthermia (40 degrees C), generalized tonic-clonic seizures, followed by focal seizures, drowsiness, left facial nerve palsy, left lagophthalmos and mydriasis is presented. CT-scan and MRI suggested temporal-parietal infarction due to Sylvian artery occlusion in a 9-month-old infant with familial hypercholesterolemia (type 2 A dyslipidemia). The possibility of a cerebral abscess or herpetic encephalitis was considered. Negative clinic and serologic results excluded this diagnosis. The management of the symptomatology was made with parenteral antibiotics, anticonvulsive and antioedematous cerebral therapy. Favourable evolution with residual left hemiparesis after 30 days, when the child was discharged. CT-scan reevaluation (after 5 months of evolution) showed a hypodense temporal-parietal area abnormality due to a right ischemic infarction.

Carried out on 57 outpatients, the study was aimed to prove the existence of a disgammaglobulinemia in Down's syndrome. The event could not be attributed to hospitalization. Data indicate increased A and G immunoglobulinemias. In agreement with other authors Ig A level was found to be very high especially after the age of 5. Ig M titre in patients was reduced in comparison with that of the controls, regardless of the age group. Increase timing of IgA and Ig G concentrations tends to be more marked for the Ig A fraction. In patients ranging from 0 to 5 years the Ig A serum level is deficient.