Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.

Psychological impact of coronavirus disease on nurses exposed and non-exposed to disease.

Introduction: Nurses who have direct contact with patients with coronavirus disease 19 (COVID-19) and are involved in diagnosis, treatment, and care are at risk for serious psychological health problems. Purpose: To examine the psychological impact of COVID-19 on nurses who are in direct contact with COVID-19 patients and compared them with other nurses, not in direct contact with COVID-19 patients. Methods: A descriptive comparative cross-sectional was conducted on a convenience sample of 364 nurses working at three hospitals in Jordan to collect their socio-demographic data and scores on the Depression, Anxiety Stress Scale, 22-item Impact of Event Scale-Revised, and Insomnia Severity Index via Google form questionnaires. Descriptive analysis, Kruskal-Wallis test, independent t-test, and multivariable logistic regression with a significance level of p-value < 0.05 were used to analyze the study data. Results: Overall, the prevalence rates of depression, anxiety, stress, insomnia, and post-traumatic stress symptoms were 34.1%, 48.9%, 44%, 33.8%, and 67.3%, respectively. Depression, anxiety, stress, and insomnia were significantly more prevalent in the exposed group of nurses than in the non-exposed ones. However, no significant difference was found between the groups regarding post-traumatic stress symptoms. Exposure to COVID-19 and the existence of comorbidities were associated with an increased risk of anxiety, depression, insomnia, and stress. Conclusion: Nurses who have direct contact with COVID-19 patients have a higher risk of psychological disorders than nurses who do not. Psychological interventions need to be implemented to enhance nurses' psychological well-being.

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Succinyl-CoA:3-oxoacid coenzyme A transferase deficiency (SCOTD) is a rare autosomal recessive disorder of ketone body utilization caused by mutations in OXCT1. We performed a systematic literature search and evaluated clinical, biochemical and genetic data on 34 previously published and 10 novel patients with SCOTD. Structural mapping and in silico analysis of protein variants is also presented. All patients presented with severe ketoacidotic episodes. Age at first symptoms ranged from 36 h to 3 years (median 7 months). About 70% of patients manifested in the first year of life, approximately one quarter already within the neonatal period. Two patients died, while the remainder (95%) were alive at the time of the report. Almost all the surviving patients (92%) showed normal psychomotor development and no neurologic abnormalities. A total of 29 missense mutations are reported. Analysis of the published crystal structure of the human SCOT enzyme, paired with both sequence-based and structure-based methods to predict variant pathogenicity, provides insight into the biochemical consequences of the reported variants. Pathogenic variants cluster in SCOT protein regions that affect certain structures of the protein. The described pathogenic variants can be viewed in an interactive map of the SCOT protein at https://michelanglo.sgc.ox.ac.uk/r/oxct. This comprehensive data analysis provides a systematic overview of all cases of SCOTD published to date. Although SCOTD is a rather benign disorder with often favourable outcome, metabolic crises can be life-threatening or even fatal. As the diagnosis can only be made by enzyme studies or mutation analyses, SCOTD may be underdiagnosed.

Further delineation of METTL23-associated intellectual disability.

METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectual disability (ID) and variable dysmorphic features. In this report, we present unpublished phenotypic data from the original family as well as six new subjects from four families who also presented with mild to moderate ID and dysmorphic features, and were found to harbor four previously unpublished homozygous or compound heterozygous variants in METTL23. Our report further supports the role of this gene in autosomal recessive ID and emphasizes the mild but consistent facial features.