Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. CASE PRESENTATION: We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c.4963del, which is predicted to result in premature protein termination p.Leu1655Cysfs*89. The child and his father were also found to be heterozygous in the EP300 gene for a sequence variant designated c.586A > G, which is predicted to result in the amino-acid substitution p.Ile196Val. CONCLUSION: Our report expands the clinical spectrum of RSTS to include several distinct facial and limb features. The variant of the CREBBP gene is known to be causative of RSTS Type 1. The variant in the EP300 gene is benign since the father carried the same variant and exhibited no abnormalities. However, functional studies are required to investigate if this benign EP300 variant influences the phenotype in the presence of disease-causing CREBBP gene mutations.

Macular Microvasculature in High Myopia without Pathologic Changes: An Optical Coherence Tomography Angiography Study.

PURPOSE: To investigate macular microvasculature changes using optical coherence tomography angiography (OCTA) and analyze their correlation with the structural parameters in highly myopic eyes. METHODS: We measured the area of the foveal avascular zone (FAZ) and the parafoveal vessel density in the superficial and deep retinal plexuses using OCTA. The magnification effect of the FAZ area was corrected using Bennett's formula. Retinal thickness measured at each corresponding area of the OCTA parameters, subfoveal choroidal thickness, and ocular characteristics were reviewed, and the relationships between the microvasculature measurements and the ocular structural characteristics were explored. RESULTS: Fifty-two eyes with high myopia and 52 normal sex- and age-matched controls were included in the analysis. The FAZ area was significantly larger in the myopic eyes (p = 0.023). The superficial parafoveal vascular density was significantly decreased (p = 0.007) in the myopic eyes compared with the normal eyes, whereas there was no significant difference in the deep parafoveal vascular density (p = 0.226). Regarding the retinal thickness, only the parafoveal inner retinal thickness was significantly smaller in the myopic eyes than in the normal eyes (p = 0.023). The FAZ and subfoveal choroidal thickness were significantly correlated with the axial length, and the parafoveal inner retinal thickness was significantly correlated with the superficial parafoveal vascular density (all p < 0.05). CONCLUSIONS: The FAZ was enlarged and the parafoveal vascular density was reduced in the highly myopic eyes. The decrease was prominent in the superficial capillary plexuses and well-correlated with the retinal thickness profiles. The macular microvascular network alteration may be attributed to the ocular axial elongation that occurs with myopia.

Quantifying the Levels of Knowledge, Attitude, and Practice Associated with Sickle Cell Disease and Premarital Genetic Counseling in 350 Saudi Adults.

Our study aims to observe the levels of knowledge, attitude, and practice (KAP) associated with sickle cell disease (SCD) and premarital genetic counseling (PMGC) in 351 Saudi adults. The relationships between KAP levels and sociodemographic characteristics (age, gender, marital status, and educational level) were observed. The study was conducted in King Khalid University Hospital between February 21, 2017, and March 7, 2018. A total of 351 Saudi participants attending the primary care clinic were selected using convenience sampling and were given a self-administered questionnaire. Overall, the 351 participants had the best attitude (41% scoring "good"), followed by knowledge (28.8%), and, lastly, practice (19.1%). Out of the sociodemographic characteristics, age group was the most statistically significant in all the three categories (knowledge, attitude, and practice). The > 50-year age group performed the worst in all the three categories. Despite the advancements in public healthcare measures in Saudi Arabia, our study revealed that there are still many gaps to be filled regarding the knowledge, attitude, and practice associated with SCD and PMGC.

Triceps nerve to deltoid nerve transfer after an unsatisfactory intra-plexus neurotization of the posterior division of the upper trunk.

INTRODUCTION: Our literature review did not reveal any study on the results of triceps to deltoid nerve transfer done as a secondary procedure after an unsatisfactory primary intraplexus neurotization of the posterior division of the upper trunk. PRESENTATION OF CASES: We report on three adults with C5-C6 brachial plexus injury who had an unsatisfactory deltoid function following primary intraplexus neurotization. Patients presented to our clinic late (14-16 months after injury). All patients had poor shoulder abduction (<40°) despite the presence of visible and palpable deltoid contractions. A triceps to deltoid nerve transfer resulted in an excellent shoulder abduction (> 150°) in all patients. DISCUSSION: The primary surgery in our patients acted as a "baby-sitter" procedure; explaining the good results of the late secondary distal nerve transfer. CONCLUSION: Good results may be obtained from a late distal nerve transfer for the deltoid muscle as long as there is partial innervation of the muscle.