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Basma AlMaghlouth, 1 Aqilah AlMubarak, 1 Ibrahim Almaghlouth, 2 Reem AlKhalifah, 3 Amal Alsadah, 4 Ali Hassan 5 1Orthodontic Department, Dammam Medical Complex, Dammam, Saudi Arabia; 2Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 3Pediatric Endocrinology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 4Dental Department, Ministry of Health, Hafr Al Batin, Saudi Arabia; 5Department of Orthodontics, School of Dentistry, King Abdulaziz University, Jeddah, Saudi ArabiaCorrespondence: Ali Hassan Email aakbr@kau.edu.saObjective: To systemically review all clinical trials that evaluate the effectiveness of orthodontic intrusion using bone anchorage devices versus using other orthodontic techniques in adult patients.Material and Methods: All randomized, controlled clinical trials and prospective studies that compare the use of TADs in intrusion versus alternative devices from the year 2000 to 2019 were searched using various electronic databases. Databases used include Pubmed, Cochrane, Scopus, Lilacs, and ScienceDirect. Selection was initially made by reading the titles and abstracts of potential suitable studies. The final selection was made after reading the full retrieved articles. A methodological score developed by Lagravère was used to assess the quality of evidence. The selection process was illustrated using a PRISMA flow chart.Results: A total of 3942 articles were retrieved, from which only two randomized clinical trials met the inclusion criteria. This presented a low to medium level of evidence to support the hypothesis that TADs are more effective than other orthodontic intrusion techniques for intruding upper incisors and improving upper incisor to lip relation while eliminating the adverse effect of compromising vertical posterior anchorage. Shorter treatment times and less root resorption were found in the TAD group.Conclusion: There is insufficient evidence to state that TADs can be used as orthodontic anchorage to effectively intrude the incisors without the need for patient cooperation. Future high quality prospective randomized clinical trials are required.Keywords: orthodontic intrusion, temporary anchorage devices, mini-implants, mini-screw

The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants in ATP6V0C, encoding the c-subunit in the membrane bound integral domain of the vacuolar H+-ATPase, in 27 patients with neurodevelopmental abnormalities with or without epilepsy. Corpus callosum hypoplasia and cardiac abnormalities were also present in some patients. In silico modelling suggested that the patient variants interfere with the interactions between the ATP6V0C and ATP6V0A subunits during ATP hydrolysis. Consistent with decreased vacuolar H+-ATPase activity, functional analyses conducted in Saccharomyces cerevisiae revealed reduced LysoSensor fluorescence and reduced growth in media containing varying concentrations of CaCl2. Knockdown of ATP6V0C in Drosophila resulted in increased duration of seizure-like behaviour, and the expression of selected patient variants in Caenorhabditis elegans led to reduced growth, motor dysfunction and reduced lifespan. In summary, this study establishes ATP6V0C as an important disease gene, describes the clinical features of the associated neurodevelopmental disorder and provides insight into disease mechanisms.

ABSTRACT Importance Body fluid dynamics and renal maturation status vary during the neonatal period. We hypothesized that differences in peak and trough gentamicin concentrations could be expected. Objective To predict the peak and trough gentamicin concentrations in critically ill neonates and to predict the changes in the predicted peak plasma concentrations of gentamicin following fat‐free mass dosing. Methods Critically ill neonates that received gentamicin and have gentamicin concentration measured were recruited. Fat mass was estimated using skinfold thicknesses. Changes in the peak plasma concentrations (Cmax) using whole‐body weight (estimated using the current dosing regimen) and predicted concentrations following the fat‐free mass‐based dosing were the outcome measures. Results Eighty‐nine critically ill neonates were recruited. Sub‐therapeutic Cmax was estimated using the current dosing regimen in 32.6%, and 22.5% neonates following the first and second doses of gentamicin. Preterm neonates had significantly higher fat mass compared to term neonates. All except one had Cmax above 12 μg/ml after the first dose and all had after the second gentamicin dose following the predicted fat‐free mass‐based gentamicin dosing. The recommended doses are as follows: extreme preterm: 7.95 mg/kg every 48 h; very preterm: 7.30 mg/kg every 36–48 h; late preterm: 5.90 mg/kg every 36–48 h; and term neonates at 5.10 mg/kg every 24 h. Interpretation Fat‐free mass dosing may be considered for obtaining optimal therapeutic effects in the neonatal population.

AbstractSaudization is a policy implemented by the Saudi Ministry of Labor and Social Development that requires Saudi companies and enterprises to fill their workforce with Saudi nationals up to a certain percentage. This research examines the effect of Saudization on women working in the Saudi workforce. The study also analyzed the support and incentives of this program for stimulating females’ enthusiasm toward looking for new job opportunities in the Saudi workforce. The study employed a qualitative study design. A total of 15 women were interviewed who held jobs for > 5 years and currently have been working in companies within Saudi Arabia. The study findings offer insights to the organizations concerned about the outcomes of implementing such programs. The study’s findings reveal the positive impact of Saudization on female employment in local organizations, and these policies led to more opportunities through working in such stores and industries. The findings suggest that Saudization, retention, pay with benefits, and health insurance policies significantly affect diversity management in the Saudi private sector. There is a need to update the policy dimensions to address the issue of gender discrimination.

To assess the prevalence of melatonin use and its perceived benefits among university students in different specialties in Saudi Arabia, a cross-sectional survey was conducted between March and June 2023. Data about demographics, time of melatonin use, perceived reasons for exogenous melatonin use, melatonin use in relation to exam periods, perceived safety, and adverse effects was gathered. Of 380 students, ~52% reported using exogenous melatonin for sleep disorders. Most participants reported using melatonin during and after exam periods. Additionally, several (n = 157; 75.4%) believed that its use was safe. The predominant use patterns were daily and as needed, and this study observed a higher rate of use compared with previous studies in Saudi Arabia. The most frequently reported adverse effect was headache (n = 36; 37.5%). A significant number of undergraduate male students in health specialties used melatonin. A high rate of melatonin use was noted during exam periods, which was attributed to sleep deprivation. Additionally, a significant number of students from private universities reported using exogenous melatonin. Melatonin use is common among university students. Future research should use a reliable psychometric measure to test its effect on university students’ sleep quality and quantity.

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

Melatonin, which is classified as a dietary supplement by the Saudi Food and Drug Authority, is used to manage sleep disorders. In this study, community pharmacists’ knowledge and attitudes about dispensing melatonin supplements and the perceived safety and effectiveness of melatonin were assessed. A cross-sectional survey of community pharmacists in Jeddah, Saudi Arabia was conducted from March–June 2023. Community pharmacists’ knowledge and attitudes towards prescribing and dispensing melatonin supplements, the methods of dispensing melatonin supplements (prescription, over the counter, self-administered), indications, ages of users, dosage forms, and adverse drug reactions related to melatonin use among consumers were surveyed using a questionnaire. Potential participants were approached face to face, a questionnaire was administered to those agreeing to participate in the study, and responses were recorded electronically. The response rate of the 300 community pharmacists who participated in this study was 83.5%. The mean age of participants was 33.6 years, and 89.3% (n = 268) of community pharmacists reported dispensing melatonin supplements. Self-medication and over the counter (n = 213; 71.2%) were the most common dispensing and prescribing patterns (p = 0.001). Awareness rates about melatonin supplement pharmacokinetics and pharmacodynamics among community pharmacists were 38% and 37%, respectively. Despite its popularity, community pharmacists reported relatively low rates of awareness of melatonin supplement pharmacokinetics and pharmacodynamics. Further attention to this issue is needed.

Rationale & Objective: There has been an increasing demand for the expertise provided by a renal genetics clinic. Such programs are limited in the United States and typically operate in a genomics research setting. Here we report a 3-year, real-world, single-center renal genetics clinic experience. Study Design: Retrospective cohort. Setting & Participants: Outpatient cases referred to the renal genetics clinic of the Cleveland Clinic between January 2019 and March 2022 were reviewed. Analytical Approach: Clinical and laboratory characteristics were analyzed. All genetic testing was performed in clinical labs. Results: 309 new patients referred from 15 specialties were evaluated, including 118 males and 191 females aged 35.1 ± 20.3 years. Glomerular diseases were the leading presentation followed by cystic kidney diseases, electrolyte disorders, congenital anomalies of kidneys and urinary tract, nephrolithiasis, and tubulointerstitial kidney diseases. Dysmorphic features were noted in 27 (8.7%) patients. Genetic testing was recommended in 292 (94.5%) patients including chromosomal microarray (8.9%), single-gene tests (19.5%), multigene panels (77.3%), and exome sequencing (17.5%). 80.5% of patients received insurance coverage for genetic testing. 45% (115/256) of patients had positive results, 25% (64/256) had variants of unknown significance, and 22.3% (57/256) had negative results. 43 distinct monogenic disorders were diagnosed. Family history of kidney disease was present in 52.8% of patients and associated with positive genetic findings (OR, 2.28; 95% CI, 1.40-3.74). 69% of patients with positive results received a new diagnosis and/or a change in the diagnosis. Among these, 39.7% (31/78) of patients received a significant change in disease management. Limitations: Retrospective and single-center study. Conclusions: The renal genetics clinic plays important roles in the diagnosis and management of patients with genetic kidney diseases. Multigene panels are the most frequently used testing modality with a high diagnostic yield. Family history of kidney disease is a strong indication for renal genetics clinic referral.

Background. Sinonasal lymphoepithelial carcinoma (SNLEC) is a rare neoplasm, representing less than 1% of all types of carcinomas and approximately 3% of head and neck tumors. It can affect the nasopharynx due to the rich lymphoid tissue present in this region. Clinical SNLEC presentation varies, ranging from asymptomatic to nonspecific sinonasal symptoms. We report a case of SNLEC and review the literature for SNLEC presentation, diagnosis, management options, and outcomes. Case Presentation. A 38-year-old male, medically free, presented to the emergency department complaining of nasal obstruction, right facial numbness, persistent right-sided headache, intermittent orbital pain, and a history of on/off epistaxis. Imaging showed a destructive mass in the right sphenoid sinus extending to different sinuses and infratemporal fossa. Biopsy confirmed the diagnosis of SNLEC, with immunohistochemistry being positive for Epstein–Barr virus (EBV) and CK8/18. Induction chemotherapy was started with three cycles of cisplatin and gemcitabine, followed by concurrent chemoradiation therapy. Conclusion. SNLEC is rare, with limited reported cases from around the world. It is mostly seen in adults between their fifth and seventh decades with male predominance. SNLEC is diagnosed using imaging, immunohistochemistry, and EBV testing given its strong association with EBV. Owing to the limited cases, there is no standard approach to treating SNLEC. However, most cases managed with radiation and with and without other modalities showed an excellent response in terms of tumor nonrecurrence.

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.

We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected.

we herein report a case of unusual presentation of pediatric cheek mass.where we had 5 years old girl presented with right cheek mass which was asymptomatic except for facial asymmetry noticed by the family.upon physical exam it was 3 × 4 cm hard fixed mass.imaging study reveal typical characteristics of venous malformation with phleboliths.which underwent surgical excision.post operation follow up revealed hematoma which was managed by drainage. Venous malformation with phlebolith is a rare entity with MRI being the diagnostic modality. management should be tailored in case to case basis.

Background: Treatment burden is an emerging concept in health care literature. It can complicate the patients’ condition and perhaps result in poor adherence to treatment, which is linked to worse clinical outcomes. However, until now there is no definition for treatment burden recognized by all stakeholders. This review was prepared in order to find what available definitions for treatment burden are present in the literature. Methods: A systematic review of the literature was prepared looking for definitions of treatment burden in adult patients. Articles about adults aged 18 years or older from both genders with one or more medical conditions that contained a (new) definition of treatment burden were included. The search approach consisted of conventional systematic review database searching of multiple resources including Embase, Medline, PsycINFO, and CINAHL. Two independent reviewers screened the titles and abstracts, and full papers. Results: The searches resulted in 8045 records, of which 16 articles were included. Based on quality appraisal criteria, we decided that two definitions had better evaluations than the rest of the definitions, the first one defining it as the impact of the ‘work of being a patient’ on functioning and well-being, the second as the actions and resources they devote to their healthcare. Conclusion: We consider the definition concentrating on actions and resources patients devote to their healthcare, including difficulty, time, and out-of-pocket costs dedicated to the healthcare tasks such as adhering to medications, dietary recommendations, and self-monitoring as the one probably comprising most domains of Treatment Burden that we have found in our search in the existing literature. However, adding even more domains to this definition and differentiating explicitly between patient's perception and caregiver's perception in the definition could in our opinion result in an improved definition. Also patients' evaluation of this definition is commendable.

Research Summary in English This research deals with the subject of masculinity and femininity in the unfinished Gibran literary This has been reflected in the adoption of Gubran marginalized women's issues in society, and called for equality with men in rights and duties, and selected a suitable husband has denounced Guran marriage of coercion and blessed marriage based on pure love and highlighted the oppression and exclusion and oppression against women by religious and political authorities Christian towns, it has been Gibran refuse that women are a commodity bought and sold and suppress will