Retinopathy of prematurity incidence and treatment modalities in moderate and late preterm infants: a study from two tertiary centers

ObjectiveThe aim of this study was to evaluate the incidence, severity, and treatment modalities of retinopathy of prematurity (ROP) in moderate and late preterm infants with a gestational age (GA) >31 + 6 weeks.MethodsROP screening results of preterm infants with GA >31 + 6 weeks to 36 + 6 weeks between March 2013 and January 2019 were evaluated retrospectively. Infants were divided into 2 groups according to GA as 32–33 + 6 weeks (moderate preterm) and 34–36 + 6 weeks (late preterm). In these groups, any ROP and severe ROP (requiring treatment) development rates and ROP types and treatment modalities were evaluated.ResultsA total of 4156 preterm infants, 1875 (45.1%) female and 2281 (54.9%) male, were included. Overall, 1466 (35.2%) of the infants were moderate preterm and 2690 (64.8%) were late preterm. The incidences of any ROP and severe ROP were 22% and 2.5%, respectively. The rate of severe ROP was 5.3% in moderate preterm infants and 0.9% in late preterm infants. Significant correlations were determined between duration of hospital stay, birth weight (BW), and GA with ROP development (r = +0.415, r = ?0.258, r = ?0.199, respectively; p < 0.001 for all). Of 102 patients (2.5%) requiring treatment, 64 (62.7%) had laser, 34 (33.3%) had intravitreal bevacizumab (IVB), 2 (1.9%) had sequential IVB and laser, and 2 (1.9%) had vitreoretinal surgery.ConclusionROP seems to still be an important health problem in moderate and late preterm infants in our country according to data from screening high-risk preterm infants with a GA >31 + 6 weeks. In this cohort, ROP development correlates with GA, BW, and duration of hospitalization significantly.     

Functions of the endothelium and its role in hematopoietic cell transplantation

The endothelium is a single-layered structure that responds to physical and chemical signals with various factors it synthesizes. In the early days of its discovery, as the inner wall of the vessels, the endothelium was thought to be a simple barrier that lays on the surface. Over time it is discovered that endothelium maintains body homeostasis with the molecules it synthesizes, despite its simple single-layer structure. It has been accepted as an important organ that contributes to the maintenance of vascular tone, cell adhesion, inflammation, vascular permeability and coagulation. Any imbalance in these physiological and pathological events causes endothelial dysfunction. This can cause many diseases such as atherosclerosis, hypertension, diabetes, or it can occur because of these. Endothelial related disorders may also complicate hematopoietic stem cell transplantation (HSCT), which is used to treat various hematologic and neoplastic diseases. These life-threatening complications include graft-versus-host disease, hepatic veno-occlussive disease, transplant-associated thrombotic microangiopathy and diffuse alveolar hemorrhage. They share a similar pathophysiology involving endothelial cells with different clinical presentations. Therefore, current researche on the issue is putting the endothelium under the spotlight for novel markers and treatment options that should be used to monitor or treat at least some of these complications following HSCT.     

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.