Background and Objectives: Retinopathy of prematurity (ROP) is the leading cause of blindness in preterm infants. We studied the relationship between different perinatal characteristics, i.e., sex; gestational age (GA); birth weight (BW); C-reactive protein (CRP) and lactate dehydrogenase (LDH) concentrations; ventilation, continuous positive airway pressure (CPAP), and surfactant administration; and the incidence of Stage 1–3 ROP. Materials and Methods: This study included 247 preterm infants with gestational age (GA) < 32 weeks that were successfully screened for ROP. Univariate and multivariate binary analyses were performed to find the most significant risk factors for ROP (Stage 1–3), while multivariate multinomial analysis was used to find the most significant risk factors for specific ROP stages, i.e., Stage 1, 2, and 3. Results: The incidence of ROP (Stage 1–3) was 66.40% (164 infants), while that of Stage 1, 2, and 3 ROP was 15.38% (38 infants), 27.53% (68 infants), and 23.48% (58 infants), respectively. Following univariate analysis, multiple perinatal characteristics, i.e., GA; BW; and ventilation, CPAP, and surfactant administration, were found to be statistically significant risk factors for ROP (p < 0.001). However, in a multivariate model using the same characteristics, only BW and ventilation were significant ROP predictors (p < 0.001 and p < 0.05, respectively). Multivariate multinomial analysis revealed that BW was only significantly correlated with Stage 2 and 3 ROP (p < 0.05 and p < 0.001, respectively), while ventilation was only significantly correlated with Stage 2 ROP (p < 0.05). Conclusions: The results indicate that GA; BW; and the use of ventilation, CPAP, and surfactant were all significant risk factors for ROP (Stage 1–3), but only BW and ventilation were significantly correlated with ROP and specific stages of the disease, namely Stage 2 and 3 ROP and Stage 2 ROP, respectively, in multivariate models.

Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the DNAJC21 gene were recently discovered to cause bone marrow failure syndrome type 3, having phenotypic overlap with Fanconi anemia, dyskeratosis congenita, Shwachman–Diamond syndrome, and Diamond–Blackfan anemia. Herein, we report an 8-year-old boy, with normal intellect, presenting bone marrow failure; growth retardation; failure to thrive; recurrent infections (including sepsis); cryptorchidia; skeletal, skin, teeth, and hair abnormalities; joint hypermobility; eczema; palpebral ptosis; high myopia; rod–cone retinal dystrophy; and short telomeres. He underwent several tests and evaluations, including genetic investigations (panel and exome sequencing), before the DNAJC21 gene was known to cause disease. Whole-genome sequencing performed at the age of 7 years, identified two novel, pathogenic, and compound heterozygous variants in the DNAJC21 gene: NM_001012339.3:c.148C&gt;T (stopgain-maternal origin), p.Gln50∗ and c.643_644delinsTTT (frameshift paternal origin), and p.Lys215Phefs∗71. He received aggressive treatments for his multisystem disease: blood cell transfusions, high-dose corticosteroids, immunoglobulins, multiple antibiotics, vitamins, growth hormone, and others. However, allogeneic hematopoietic stem cell transplantation was avoided. The clinical evolution of bone marrow failure and recurrent infections stabilized with age, yet the myopia progressed. Exocrine pancreatic insufficiency was not detected. This report widens the molecular and clinical understanding of bone marrow failure syndrome type 3. Genome sequencing directed a precise diagnosis that improved patient management and enabled family genetic counseling.

Years after the laser intervention, central fovea was significantly thicker in ROP laser-treated children born preterm when compared to controls. Central fovea thickness (CFT) correlated strongly and inversely with BW and gestational age (GA) at birth, while a CFT value above 257 μm was suggestive for suboptimal visual acuity. The proposed cut-off value needs to be validated in future larger studies.

Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis.

Prematurity comes with a varying range of complications, implying a high prevalence of complications and mortality and depending on the severity of prematurity and the sustained inflammation among these infants, which recently sparked an important scientific interest. The primary objective of this prospective study was to establish the degree of inflammation in very (VPIs) and extremely preterm infants (EPIs) in association with the histology findings of the umbilical cord (UC), while the secondary objective was to study the inflammatory markers in the neonates’ blood as predictors of fetal inflammatory response (FIR). A total of thirty neonates were analyzed, ten of them being born extremely premature (<28 weeks of gestation) and twenty very premature (28–32 weeks of gestation). The EPIs had considerably higher levels of IL-6 at birth than VPIs (638.2 pg/mL vs. 151.1 pg/mL). The CRP levels at delivery did not vary substantially across groups; however, after days, the EPIs had significantly higher CRP levels (11.0 mg/dL vs. 7.2 mg/dL). In contrast, the LDH was considerably higher in the extremely preterm infants at birth and four days after birth. Surprisingly, the proportions of infants with pathologically increased inflammatory markers did not differ between the EPIs and VPIs. The LDH increased considerably in both groups, although the CRP levels increased exclusively among the VPIs. The stage of inflammation in the UC did not vary substantially between the EPIs and VPIs. The majority of infants were identified with Stage 0 UC inflammation (40% in EPI vs. 55% in VPIs). There was a substantial correlation link between gestational age and newborn weight and a significant inverse correlation among gestational age and IL-6 and LDH levels. There was a strong negative association between weight and IL-6 (rho = −0.349) and LDH (rho = −0.261). The stage of the UC inflammation demonstrated a statistically significant direct connection with IL-6 (rho = 0.461) and LDH (rho = 0.293), but none with the CRP. Further studies involving a bigger population size of preterm newborns are required to validate the findings and analyze more inflammatory markers, while prediction models on inflammatory markers that are measured expectantly, before the onset of preterm labor, need to be created.