Low-dose zinc oxide nanoparticles trigger the growth and biofilm formation of Pseudomonas aeruginosa: a hormetic response.

INTRODUCTION: Hormesis describes an inverse dose-response relationship, whereby a high dose of a toxic compound is inhibitory, and a low dose is stimulatory. This study explores the hormetic response of low concentrations of zinc oxide nanoparticles (ZnO NPs) toward Pseudomonas aeruginosa. METHOD: Samples of P. aeruginosa, i.e. the reference strain, ATCC 27,853, together with six strains recovered from patients with cystic fibrosis, were exposed to ten decreasing ZnO NPs doses (0.78-400 µg/mL). The ZnO NPs were manufactured from Peganum harmala using a chemical green synthesis approach, and their properties were verified utilizing X-ray diffraction and scanning electron microscopy. A microtiter plate technique was employed to investigate the impact of ZnO NPs on the growth, biofilm formation and metabolic activity of P. aeruginosa. Real-time polymerase chain reactions were performed to determine the effect of ZnO NPs on the expression of seven biofilm-encoding genes. RESULT: The ZnO NPs demonstrated concentration-dependent bactericidal and antibiofilm efficiency at concentrations of 100-400 µg/mL. However, growth was significantly stimulated at ZnO NPs concentration of 25 µg/mL (ATCC 27853, Pa 3 and Pa 4) and at 12.5 µg/mL and 6.25 µg/mL (ATCC 27853, Pa 2, Pa 4 and Pa 5). No significant positive growth was detected at dilutions < 6.25 µg/mL. similarly, biofilm formation was stimulated at concentration of 12.5 µg/mL (ATCC 27853 and Pa 1) and at 6.25 µg/mL (Pa 4). At concentration of 12.5 µg/mL, ZnO NPs upregulated the expression of LasB ( ATCC 27853, Pa 1 and Pa 4) and LasR and LasI (ATCC 27853 and Pa 1) as well as RhII expression (ATCC 27853, Pa 2 and Pa 4). CONCLUSION: When exposed to low ZnO NPs concentrations, P. aeruginosa behaves in a hormetic manner, undergoing positive growth and biofilm formation. These results highlight the importance of understanding the response of P. aeruginosa following exposure to low ZnO NPs concentrations.

Artificial intelligence utilization in the healthcare setting: perceptions of the public in the UAE.

Understanding the use of AI in healthcare is essential for the successful implementation of AI-driven healthcare solutions. The aim of this study was to evaluate public perception of AI utilization in healthcare settings. A validated questionnaire assessed general perceptions towards AI utilization, the use of AI by physician , and the use of AI by pharmacists . The study included 770 participants. The median perception score indicated an unfavorable attitude. Participants who had lower education level and those with no employment had a significantly lower perception scores than their counterpart. Participants who reported low income and those who visited the pharmacy five to ten times on average had a higher perception than their counterparts did. The reported negative perception necessitates the implementation of education campaigns to improve AI literacy and dispel any misconceptions and concerns, particularly among individuals with low education, high income, unemployment, and frequent pharmacy visits.

The influence of infant characteristics on postpartum depression among mothers with hospitalized infant in NICU.

PURPOSE: The purpose of the study to determine the prevalence of mother postpartum depression and to examine the association between infant characteristics and postpartum depression in the neonatal intensive care unit. METHODS: A quantitative cross-sectional survey design was conducted in three government teaching hospitals in Jordan. A convenience sample of 188 mothers with hospitalized 188 infants in NICU was recruited. Questionnaires were used to collect the quantitative data, which include Infant Demographic Data Questionnaire, Mother Demographic Data Questionnaire and Edinburgh Postnatal Depression Scale (EPDS). The study revealed that infant characteristics such as gestational age, medical condition classification, and birth weight are found to be significant factors that influence depression among mothers. RESULTS: The results showed that mothers with infants admitted to NICU experience postpartum depression with a mean of 3.82 and median of 4.04. There were significant differences based on gestational age, birth weight, and classification of medical condition and mothers' postpartum depression. CONCLUSION: Knowing the relationship of certain infant's characteristics and postpartum depression can help to focus on relevant infant characteristics so that timely interventions to improve mothers' well-being can be developed.

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities. CASE REPORT: Here we describe a new case of PTHS in a 13-year-old girl with particular emphasis on oro-dental findings and oral healthcare management. Observed oro-dental findings in our case included shallow palate, absence of lingual frenum, gingival enlargement, thick lips and relative microdontia. The patient was unable to tolerate dental care under local anesthesia. Therefore, comprehensive dental treatment was performed under general anesthesia after a careful pre-anesthetic cardio-respiratory, neurological, and hematological evaluation. The patient was closely monitored intra-operatively for breathing rhythm, O2 saturation, and signs of respiratory distress. The patient was observed for 24 h post-op for respiratory distress and was discharged then uneventfully. CONCLUSION: Dental treatment under general anesthesia in these patients might be complicated by the abnormal breathing rhythm, and close monitoring and follow up for signs of respiratory distress after general anesthesia is necessary. Recognition of oral and dental findings might help to expand the phenotype and better characterize rare syndromes.

How good is ChatGPT at answering patients' questions related to early detection of oral (mouth) cancer?

OBJECTIVES: To examine the quality, reliability, readability, and usefulness of ChatGPT in promoting oral cancer early detection. STUDY DESIGN: About 108 patient-oriented questions about oral cancer early detection were compiled from expert panels, professional societies, and web-based tools. Questions were categorized into 4 topic domains and ChatGPT 3.5 was asked each question independently. ChatGPT answers were evaluated regarding quality, readability, actionability, and usefulness using. Two experienced reviewers independently assessed each response. RESULTS: Questions related to clinical appearance constituted 36.1% (n = 39) of the total questions. ChatGPT provided "very useful" responses to the majority of questions (75%; n = 81). The mean Global Quality Score was 4.24 ± 1.3 of 5. The mean reliability score was 23.17 ± 9.87 of 25. The mean understandability score was 76.6% ± 25.9% of 100, while the mean actionability score was 47.3% ± 18.9% of 100. The mean FKS reading ease score was 38.4% ± 29.9%, while the mean SMOG index readability score was 11.65 ± 8.4. No misleading information was identified among ChatGPT responses. CONCLUSION: ChatGPT is an attractive and potentially useful resource for informing patients about early detection of oral cancer. Nevertheless, concerns do exist about readability and actionability of the offered information.

Acute Stress Disorders Among Jordanian Adolescents After Watching Gaza News Footage on Social Media.

Background: The ongoing conflict in Gaza has led to a surge in acute stress among individuals who are exposed to distressing images and videos daily via social media. Aim: This study aimed to examine the impact of watching Gaza news footage on social media among Jordanian adolescents, and explore the experiences of watching Gaza news footage on social media from the perspective of adolescents. Methods: An explanatory mixed methods design was conducted from 10/10/2023 until 6/11/2023, undertaken at two government high schools in Jordan. The Perceived Stress Scale was used to survey 180 Jordanian students who watched Gaza news footage on social media. Then the students who had high stress levels were interviewed. Results: 180 students participated in this study, more than half of them were male (52.2%). The quantitative findings showed that the students experienced high stress levels, with a mean score of 3.78 (SD = 1.24). 70% of students reported high levels of stress, the amount of time spent watching news footage about the Gaza attack on social media each day, and the presence of social support from family or peers are significantly linked to stress levels (p < 0.05). The qualitative findings revealed the following themes: Extreme Emotional Responses, Sources of Stressors and Impact of Stress Extreme Emotional Responses, Sources of Stressors and Impact of Stress. Conclusion: Study findings revealed high stress levels among adolescents after watching Gaza news on social media, highlighting the need for interventions in the context of the three major themes revealed in the study.

Attitudes and perceived barriers to evidence-based practice among occupational therapists in Jordan.

Evidence-based practice (EBP) refers to the clinical decision-making process incorporating the best available evidence from research, therapists' clinical experience, and patient values. The current study aimed to examine the experience of Jordanian occupational therapy practitioners (OTs) in using EBP and to identify the perceived barriers to implementing EBP among OTs in Jordan. The study utilized a cross-sectional descriptive study design. A questionnaire was emailed to OTs who have been working in Jordan for the last six months of their practice in a clinical setting. The majority of the participants had a positive attitude toward EBP. However, they reported several barriers to implementing EBP, including a lack of tools and equipment in clinical settings as a major barrier (65.8%). National collaborative actions are needed to develop strategies to improve the utilization of EBP in occupational therapy (OT) practice and to overcome the barriers therapists experience with implementing EBP.

Multi-locus sequence typing of Escherichia coli isolated from clinical samples in Jordan.

INTRODUCTION: Escherichia coli (E. coli) is the major cause of extraintestinal infections in the urinary tracts and bloodstream in humans in the community and health care institutions. Several studies on the genetic characterization of E. coli among clinical and environmental isolates were performed and revealed a wide diversity of sequence types (STs). In Jordan, phenotypic and genetic features of E. coli were extensively studied but there is still a need to identify the STs that inhabit the community. METHODOLOGY: In this study, multi-locus sequence typing (MLST) was performed on archived clinical E. coli isolates collected from different hospitals in Jordan and the identified STs were extensively analyzed. RESULTS: Genotyping of 92 E. coli isolates revealed 34 STs and 9 clonal complexes. The frequencies of STs ranged between 1 to 23 observations. The most frequent STs among E. coli isolates were ST131 (n = 23), ST69 (n = 19), ST998 (n = 7), ST2083 (n = 5), and ST540 (n = 4). These five ST accounted for up to 60% of the 92 E. coli isolates. Based on the MLST database, the STs reported in this work were world widely recognized in humans, animals, and in the environment. CONCLUSIONS: This study has elaborated more knowledge about the genotypes of E. coli in Jordan, with recommendations for future studies to correlate its genotypes with virulence and resistance genes.

Predictors on parent's attitudes toward the measles-rubella (MR) vaccine in Jordan: An education program.

BACKGROUND: Vaccine hesitancy is considered 1 of the top 10 threats to global health. This study aims to assess the impact of an education program on parents' attitudes toward the measles-rubella vaccine. METHODS: A study was conducted with 250 parents using a randomized controlled trial design. The intervention group (125 parents) received training, education programs, and video, while the control group (125 parents) only received video. The Parent Attitudes about Childhood Vaccines (PACV) scale, including its behavior, safety and efficacy, and trust subscales, was used for pre-post assessment. This allowed for comparison between the groups and measurement of score differences. The PACV scale (range 0-42) identified vaccine hesitancy, with a score below 21 indicating "non-hesitant" and 21 or higher indicating "hesitant." RESULTS: The intervention group had a significant decrease in PACV scores after the program (17.54 ± 4.7, P = .001), mainly in behavior, safety, efficacy, and trust (6.4 ± 3.6, 9.8 ± 4.7, 3.9 ± 2; P = .001, .011, .002). The control group showed no changes (23.6 ± 3.5; P = .402). Postintervention PACV score differences were significant (t = 11.562, P = .001). DISCUSSION: Findings indicate that the education program had a positive effect on changing vaccine hesitancy. CONCLUSIONS: The education programs promoted vaccine acceptance among parents.

Biocontrol Potential of Trichoderma Ghanense and Trichoderma Citrinoviride toward Pythium aphanidermatum.

Pythium-induced damping-off of cucumber is a major constraint to cucumber production in different parts of the world. Although chemical fungicides are used for managing this disease, they have many drawbacks to the environment. The ability of the antagonistic fungi isolated from the rhizosphere and endosphere of Dactyloctenium robecchii and Moraea sisyrinchium in the control of soilborne pathogen Pythium aphanidermatum was inspected. Native Trichoderma isolates, Trichoderma ghanense and Trichoderma citrinoviride, were isolated from plant stem and soil samples collected from Al-Seeb, Oman. Using a dual culture technique, the antagonistic activity of the fungal isolates against P. aphanidermatum was examined in vitro. Among Trichoderma isolates, T. ghanense was more efficient in restraining the mycelial growth of P. aphanidermatum, causing an inhibition percentage of 44.6%. Further, T. citrinoviride induced significantly lower cessation of P. aphanidermatum mycelial growth (31.3%). Microscopic and electrolyte leakage inspection of the pathogen mycelia depicted extreme morphological malformations in their mycelium, which can be attributed to the antifungal metabolites of antagonists. Greenhouse studies demonstrated the effectivity of T. ghanense in controlling Pythium damping-off of cucumber plants, where the number of surviving plants was over 90% when the biocontrol agents were used compared to 0 in the control plants. Furthermore, treatment of the plants with the antagonists promoted growth characteristics of plants compared to uninoculated plants. This included improvements in shoot and root lengths, leaf length and width, and dry weight. These findings suggest that T. ghanense and T. citrinoviride can be developed as alternatives to synthetic chemical fungicides to manage soilborne pathogens of cucumber. This research is also the first to clarify the biocontrol ability of T. citrinoviride and T. ghanense against cucumber damping-off caused by P. aphanidermatum.

Two new species of Hymenagaricus (Agaricales, Agaricaceae) from Oman, based on morphology and molecular phylogeny.

Hymenagaricus has small to medium-sized mushrooms and the cap surface with squamulose pellicles, consisting of hymeniform or pseudoparenchymatous cells and yellowish-brown basidiospores. The species of Hymenagaricus are very similar to those of Xanthagaricus and it is extremely difficult to differentiate the species of both genera in the field. However, phylogenetically, both the genera are clearly distinct. In this study, we describe two new species of Hymenagaricus, i.e. H.wadijarzeezicus and H.parvulus from the southern part of Oman. Species descriptions are based on a combination of morphological characteristics of basidiomata and phylogenetic analyses of three gene regions: internal transcribed spacer (ITS1-5.8S-ITS2 = ITS), the large subunit of nuclear ribosomal DNA (28S) and translation elongation factor one alpha (EF-1α). Full descriptions, micrographs and illustration of anatomical features, basidiomata photos and phylogenetic analyses results of the new taxa are provided. Morphological comparisons of new taxa with similar species and a key to species included in the phylogenetic analyses are also provided.

ChatGPT revisited: Using ChatGPT-4 for finding references and editing language in medical scientific articles.

The attainment of academic superiority relies heavily upon the accessibility of scholarly resources and the expression of research findings through faultless language usage. Although modern tools, such as the Publish or Perish software program, are proficient in sourcing academic papers based on specific keywords, they often fall short of extracting comprehensive content, including crucial references. The challenge of linguistic precision remains a prominent issue, particularly for research papers composed by non-native English speakers who may encounter word usage errors. This manuscript serves a twofold purpose: firstly, it reassesses the effectiveness of ChatGPT-4 in the context of retrieving pertinent references tailored to specific research topics. Secondly, it introduces a suite of language editing services that are skilled in rectifying word usage errors, ensuring the refined presentation of research outcomes. The article also provides practical guidelines for formulating precise queries to mitigate the risks of erroneous language usage and the inclusion of spurious references. In the ever-evolving realm of academic discourse, leveraging the potential of advanced AI, such as ChatGPT-4, can significantly enhance the quality and impact of scientific publications.

Knowledge and Attitudes of Obstructive Sleep Apnea among Jordanian Otolaryngologists: A Cross-Sectional Study.

Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder that affects almost one billion individuals worldwide. An estimated 16.8% of adults in Jordan have been diagnosed with OSA. Given the importance of management of OSA by otolaryngologists, we assessed the knowledge and attitudes of Jordanian otolaryngologists in managing OSA in adult and pediatric patients. A survey, conducted anonymously online, was sent present otolaryngology residents and specialist in Jordan, in the English language. The participants were given the OSA Knowledge and Attitude questionnaire (OSAKA, OSAKA-KIDS), which have been previously validated. Data were obtained and then analyzed via SPSS software. A total of 140 residents and specialist of otolaryngology were selected. A significant difference in OSAKA scores were found between otolaryngologists under 30 years of age and those above, with higher scores for the older age group. The proportion of specialists who 'agreed' or 'strongly agreed' they are confident in their ability to manage patients with OSA was significantly higher that junior residents (73.8% vs 33.3%; p = 0.008). More than 10 years at practice was associated with statistically significant higher levels of knowledge towards OSAKA scale (AOR = 0.09; p = 0.044). Additionally, being a senior resident was significantly associated with more knowledge towards OSAKA-KIDS scale (AOR = 0.19; p = 0.03). Otolaryngology residents and specialists' knowledge of OSA was very good. Further improving in the level of the knowledge toward OSA among the otolaryngology resident doctors should be implemented as possible by following the updated guidelines for the diagnosis and management OSA. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-04180-8.

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.

BACKGROUND AND OBJECTIVES: The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature. METHOD: A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD. RESULTS: The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype. CONCLUSION: Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.

Oral Rinses: Some Kill and Some Cripple Candida albicans.

OBJECTIVES: Oral healthcare professionals play a crucial role in guiding patients toward evidence-based choices among the many available oral rinses. In this study, we explored how specific oral rinse formulations affect the viability and modulate critical virulence traits of the opportunistic fungal pathogen Candida albicans. MATERIALS AND METHODS: We assessed the effects of these oral rinses on the production of germ tube, production of phospholipase and hemolysin, as well as biofilm formation. RESULTS: We found that oral rinses containing cetylpyridinium chloride (CPC) and chlorhexidine (CHX) showed the greatest fungicidal activity with the lowest MFCs (0.38% and 0.78%, respectively). Oral rinses based on zinc chloride and sodium fluoride with Miswak bark extract (MIS) or essential oils (EO) had much lower fungicidal activity (8-16 times lower) compared to CHX and CPC. However, they had a significantly greater impact on the virulence traits of C. albicans. They reduced germ tube production by 86% - 89% (versus 42% for CHX and 29% for CPC), completely inhibited phospholipase and hemolysin production, and together with the CPC-based oral rinse, exerted the greatest reductions in biofilm formation across all tested concentrations. This was in contrast to both the controls and CHX, which had a minimal effect on biofilm formation. CONCLUSION: By inhibiting the virulence factors the oral rinse can have a crippling effect on C. albicans, weakening this opportunistic pathogen and hindering its potential to cause infection.

Content analysis of oral (mouth) cancer-related posts on Instagram.

OBJECTIVE: To examine the content of Instagram posts about oral cancer and assess its usefulness in promoting oral cancer awareness and early detection practices. METHODS: A systematic search of Instagram for posts about oral (mouth) cancer was conducted using the hashtags #oral cancer and #mouth cancer. Posts usefulness in promoting awareness and early detection was assessed using the early detection usefulness score, and caption readability was assessed using the Flesch Kincaid readability score. RESULTS: A total of 81,000 posts were identified, and 200 posts were thoroughly evaluated. Included posts gathered a total of 48,118 (mean = 420.59 likes) and 27,898 views. Most posts (81.5%) were educational to the lay person, and India and the UK were the major contributors. The most discussed topics were prevention and early detection (55%). Representative clinical images were present in 35.5% of posts. Only 9.5% of posts mentioned the source of information, and the mean usefulness score was only 2.1 out of 10. The mean reading ease score was 56.7 ± 43.8 (range from 1 to 98 out of 100). CONCLUSION: Instagram shows potential for promoting oral cancer awareness, particularly in prevention and early detection. However, concerns regarding content quality, scientific validity, and clarity persist.

Bayesian Vancomycin Model Selection for Therapeutic Drug Monitoring in Neonates.

BACKGROUND AND OBJECTIVE: Pharmacokinetic models can inform drug dosing of vancomycin in neonates to optimize therapy. However, the model selected needs to describe the intended population to provide appropriate dose recommendations. Our study aims to identify the population pharmacokinetic (PopPK) model(s) with the best performance to predict vancomycin exposure in neonates in our hospital. METHODS: Relevant published PopPK models for vancomycin in neonates were selected based on demographics and vancomycin dosing strategy. The predictive performance of the models was evaluated in Tucuxi using a local cohort of 69 neonates. Mean absolute error (MAE), relative bias (rBias) and relative root mean square error (rRMSE) were used to quantify the accuracy and precision of the predictive performance of each model for three different approaches: a priori, a posteriori, and Bayesian forecasting for the next course of therapy based on the previous course predictions. A PopPK model was considered clinically acceptable if rBias was between ± 20 and 95% confidence intervals included zero. RESULTS: A total of 25 PopPK models were identified and nine were considered suitable for further evaluation. The model of De Cock et al. 2014 was the only clinically acceptable model based on a priori [MAE 0.35 mg/L, rBias 0.8 % (95% confidence interval (CI) - 7.5, 9.1%), and rRMSE 8.9%], a posteriori [MAE 0.037 mg/L, rBias - 0.23% (95% CI - 1.3, 0.88%), and rRMSE 6.02%] and Bayesian forecasting for the next courses [MAE 0.89 mg/L, rBias 5.45% (95% CI - 8.2, 19.1%), and rRMSE 38.3%) approaches. CONCLUSIONS: The De Cock model was selected based on a comprehensive approach of model selection to individualize vancomycin dosing in our neonates.

Anti-Bacterial Activity of Green Synthesised Silver and Zinc Oxide Nanoparticles against Propionibacterium acnes.

Propionibacterium acnes plays a critical role in the development of acne vulgaris. There has been a rise in the number of patients carrying P. acnes strains that are resistant to antibiotics. Thus, alternative anti-microbial agents are required. Zinc oxide (ZnO-NPs) and silver (Ag-NPs) nanoparticles can be used against several antibiotic-resistant bacteria. The impact of Ag-NPs and ZnO-NPs against two clinical strains of P. acnes, P1 and P2, and a reference strain, NCTC747, were investigated in this research. A chemical approach for the green synthesis of Ag-NPs and ZnO-NPs from Peganum harmala was employed. The microtiter plate method was used to examine the effects of NPs on bacterial growth, biofilm development, and biofilm eradication. A broth microdilution process was performed in order to determine minimal inhibitory (MIC) concentrations. Ag-NPs and ZnO-NPs had a spherical shape and average dimensions of 10 and 50 nm, respectively. MIC values for all P. acnes strains for Ag-NPs and ZnO-NPs were 125 µg/mL and 250 µg/mL, respectively. Ag-NP and ZnO-NP concentrations of 3.9- 62.5 µg/mL and 15-62.5 µg/mL significantly inhibited the growth and biofilm formation of all P. acnes strains, respectively. ZnO-NP concentrations of 15-62.5 µg/mL significantly inhibited the growth of NCTC747 and P2 strains. The growth of P1 was impacted by concentrations of 31.25 µg/mL and 62.5 µg/mL. Biofilm formation in the NCTC747 strain was diminished by a ZnO-NP concentration of 15 µg/mL. The clinical strains of P. acnes were only affected by ZnO-NP titres of more than 31.25 µg/mL. Established P. acne biofilm biomass was significantly reduced in all strains at a Ag-NP and ZnO-NP concentration of 62.5 µg/mL. The findings demonstrated that Ag-NPs and ZnO-NPs exert an anti-bacterial effect against P. acnes. Further research is required to determine their potential utility as a treatment option for acne.

Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

PURPOSE: To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). METHODS: A clinical report. CASE DESCRIPTION: An infant born to a consanguineous Middle Eastern family who was delivered by cesarean section because of in utero growth restriction, premature labor, and breech presentation. Post-partum medical problems included hypotension, generalized hypotonia, bradycardia, apnea requiring resuscitation and positive pressure ventilation, facial dysmorphia, skeletal malformations, and disorders of the gastrointestinal, immune, urinary, respiratory, cardiac, and visual systems. The family reported that a previous child had severe hypotonia at birth and was given the diagnosis of hypoxic ischemic encephalopathy; that child remains on a ventilator in a chronic care facility. Our patient was found to be homozygous for a novel pathogenic missense variant in theZNF699 zinc finger gene on chromosome 19p13 causing a syndrome known as Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). We review this variable syndrome, including abnormalities of the visual system not described previously. CONCLUSIONS: We describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging.