Journal of Pediatric Diseases

Dermatoglyphic patterns are lines formed by different patterns of epidermal structures located on the inner surface of the hands and feet. Epidermal patterns begin to form in the sixth week of pregnancy and once formed, they remain unchanged throughout life except for their size. Since finger patterns and our nervous system develop from the same ectoderm layer, scientists have begun to examine the relationship between fingerprint pattern anomalies and various diseases based on the idea that negativities in various systems, especially neurological disorders, may be reflected in fingerprint patterns. Studies have reported significant relationships between fingerprint anomalies and various diseases. As a result, it is expected that taking dermatoglyphic pattern samples will contribute significantly to the independent roles of pediatric nurses, supporting children’s physical, cognitive and social healthy growth and development, detecting diseases at an early stage and maximizing health with appropriate guidance, and providing genetic counseling to parents.

To observe the expression of neuropilin-1 (NRP-1) induced by paired-box gene 2 (PAX2) during the process of epithelial-to-mesenchymal transition (EMT) and renal fibrosis in unilateral ureteral obstruction (UUO) model in rats, and explore the mechanism of EMT induced by PAX2. Methods: The recombinant lentivirus expression vector for PAX2 was constructed and transfected into rat normal renal tubular epithelial cell line (NRK52E). The experimental cells were divided into three groups: transfection group, empty vector group, and normal group. E-cadherin and α-SMA were detected by western blot and real-time PCR. Expression of NRP-1 was detected by western blot, real-time PCR, and immunofluorescence. Sixty male Wistar rats were randomly divided into two groups: the sham-operation group (n=30) underwent left ureteral dissection, the UUO group (n=30) underwent left ureteral ligation. Post-operation on days 3, 7, 14, 21 and 28, 6 rats from each of the groups were sacrificed and the obstructed kidneys were dissected out. The histopathological changes were observed by hematoxylin-eosin and Masson staining. E-cadherin and α-SMA were detected by western blot and immunohistochemistry. Expression of NRP-1 and PAX2 were determined by western blot, immunohistochemistry, and real-time PCR. Results: Expression of NRP-1 mRNA and protein and α-SMA protein increased (P<0.05) while E-cadherin protein expression decreased (P<0.05) in the transfection group as compared to the empty vector group in vitro. In the UUO group, fibrosis was obvious, and there was decreased expression of E-cadherin protein (P<0.05) and increased expression of α-SMA protein and NRP-1 mRNA and protein (P<0.05) in comparison to the sham group. Conclusion: NRP-1 maybe mediate PAX2-induced EMT in renal tubular epithelial cells and renal fibrosis.

Objective Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal cystic disease involving multiple organs. It is caused by mutations in the PKHD1 gene. Here, we investigate the gene mutations in a family affected by ARPKD. Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from the subjects, by means of targeted gene capture and next generation sequencing technologies for mutation screening, and were confirmed by Sanger sequencing. Results Two heterozygous mutations of PKHD1, c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp), located in exons 43 and 62, respectively, were identified in the patient. Furthermore, the father and mother were revealed to be carriers of heterozygous c.6890T>C (p.Ile2297Thr) and c.11215C>T (p.Arg3739Trp) mutations, respectively. Mutation of c.11215C>T (p.Arg3739Trp) has been found in the ARPKD Mutation Database (http://www.humgen.rwth-aachen.de) but mutation of c.6890T>C (p.Ile2297Thr) has not been reported. Conclusions Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of ARPKD in this patient. The newly identified c.6890T>C (p.Ile2297Thr) mutation in the patient expands the mutation spectrum of the PKHD1 gene. Targeted gene capture and next generation sequencing are suitable for genetic diagnosis of single-gene inherited diseases like ARPKD, in which the pathogenic gene is large.

Objective: To improve the efficiency of lumbar intervertebral discs protrusion by determining the ultrasound biomarkers. Materials and Methods: The study included 68 patients with the disc protrusion and 65 healthy adolescents with normal lumbar intervertebral discs and neurologic status aged 16-18 years. Ultrasonography (USG) was performed at the level of disks L1-L2, L2-L3, L3-L4, L4-L5, L5-S1 in longitudinal and transverse projections. In longitudinal section was measured height of lumbar vertebrae and intervertebral discs, in axial section – the sagittal sizes of intervertebral discs and spinal canal, width of spinal nerve canals, thickness of the yellow ligament. Results: In 31 (45,6±6,0%) cases the protrusion was paramedian, in 16 (23,5±5,1%) – posterolateral, in 13 (19,1±4,8) – median and in 8 (11,8±3,9%) – circular types. The paramedian protrusion was significantly more frequently recorded than the posterolateral (P<0,05), median and circular (p <0.001) types. In 7 (10,3±3,7% ) cases the protrusion was localized at the level of L2-L3, in 13 (19,1 ±4,8%) – L3-L4, in 27 (39,7±5,9%) - at the level of L4-L5 and in 21 (30,9±5,6%) – at the level of L5-S1 respectively. There were no significant differences in the frequency of occurrence between L2-L3 and L3-L4, as well as L4-L5 and L5-S1. The lower located lumbar discs were significantly more affected than the upper ones (P<0,05; P<0,001).Conclusions: In adolescents in the lumbar spine, paramedian protrusion are most commonly found, which are most often localized at the level of both L4-L5 and L5-S1. The greatest  narrowing and deformation of the spinal nerve canal is observed by posterolateral and paramedian protrusion. The greatest thickness of the yellow ligament, radiculopathy  is observed at level of L5-S1 protrusion. 

Introduction: dietary therapy plays an important role in keeping good blood glucose level in patients with type 1 diabetes (T1D).  We evaluated the influence of carbohydrate counting  (CC) on auxological parameters and metabolic management in children and adolescents with T1D.

Methods and Materials: we enrolled all pediatric patients with T1DM followed up in our outpatient Pediatrics Diabetology Unit at IRCCS Policlinic San Matteo of Pavia, between June 2016 and June 2017. In all subjects the diagnosis was made or confirmed at least 6 months before this study started. All subjects were treated with a basal bolus insulin regimen by means of multiple daily injections or continuous subcutaneous insulin infusion with pump. Subjects were classified as “adherent” or “not adherent” to CC; auxological (weight, height, BMI score and BMI-z score) and metabolic parameters (glycated hemoglobin (HbA1c), insulin needs/24h, insulin to carbohydrates ratio (ICR), insulin-sensitivity factor (ISF)) were recorded

Results: Of all the patients enrolled (n=134; 75M/ 59F; mean age 12.6±5.1 years) diagnosed with T1DM, 21 (15.7%) were adherent to CC (16 of them were on pump insulin therapy, 5 on multiple injection insulin therapy). HbA1c was not statistically different in the two groups (p=0.46 and p=0.6, respectively). Patients adherent to CC tended to show higher BMIs (p=0.005) as well as BMI z-score (p=0.04) and overweight (p=0.03) than the non adherent group. the non adherent group showed lower ICR (p=0.04) and ISF (p=0.04), significantly related to the BMI (p<0.001).

Conclusion: CC represents a good alternative to the classic nutritional treatment in children and adolescents diagnosed with T1DM. Moreover, CC may influence weight and metabolic management, so it is necessary to be appropriately trained on the adequate dietary recommendations and the right counting method.