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Introduction: Prolactin is a hormone secreted by the anterior pituitary gland essential for lactation. Non-physiological hyperprolactinemia characterized by serum prolactin levels exceeding 20 ng/mL in men and 25 ng/mL in women, often results from medication use or pituitary gland tumors. In a minority of cases, the cause of hyperprolactinemia remains unknown despite clinical investigations. Familial idiopathic hyperprolactinemia may stem from mutations in genes encoding prolactin (PRL) and its receptor (PRLR). Methods: This study investigated genetic polymorphisms in PRL and PRLR genes using polymerase chain reaction (PCR) and Sanger sequencing in three sisters affected by familial idiopathic hyperprolactinemia. No mutations were found in these genes, prompting whole exome sequencing (WES) of the proband to identify other potentially involved genes. Results: WES revealed a heterozygous missense substitution c.1301C>T (p.Ser434Phe) in the androgen receptor (AR) gene. Next-generation sequencing (NGS) for the AR gene confirmed that the proband and her two affected sisters, along with three asymptomatic sisters, were all heterozygous carriers of the mutation. Their father was hemizygous, while their mother had a normal genotype. Conclusion: The heterozygous missense mutation in the AR gene found in this family with familial idiopathic hyperprolactinemia is not yet explained. Hence, further research is warranted to elucidate the functional implications of this mutation on AR and its role in the pathogenesis of hyperprolactinemia. [ABSTRACT FROM AUTHOR]

Cranial malformations are a significant cause of perinatal morbidity and mortality. Iroquois homeobox transcription factors (IRX) are expressed early in bone tissue formation and facilitate patterning and mineralization of the skeleton. Mice lacking Irx5 appear grossly normal, suggesting that redundancy within the Iroquois family. However, global loss of both Irx3 and Irx5 in mice leads to significant skeletal malformations and embryonic lethality from cardiac defects. Here, we study the bone-specific functions of Irx3 and Irx5 using Osx-Cre to drive osteoblast lineage-specific deletion of Irx3 in Irx5(-/-) mice. Although we found that the Osx-Cre transgene alone could also affect craniofacial mineralization, newborn Irx3 (flox/flox) /Irx5(-/-)/Osx-Cre (+) mice displayed additional mineralization defects in parietal, interparietal, and frontal bones with enlarged sutures and reduced calvarial expression of osteogenic genes. Newborn endochondral long bones were largely unaffected, but we observed marked reductions in 3-4-week old bone mineral content of Irx3 (flox/flox) /Irx5(-/-)/Osx-Cre (+) mice. Our findings indicate that IRX3 and IRX5 can work together to regulate mineralization of specific cranial bones. Our results also provide insight into the causes of the skeletal changes and mineralization defects seen in Hamamy syndrome patients carrying mutations in IRX5.

During COVID-19, the authenticity and degree of marketing information services at Al-Balqa Applied University Center (Salt) confronted various challenges in obtaining information sources. This study however aimed at examining those issues and challenges using a questionnaire designed for library patrons. Based on the findings, the library should take a further step ahead by developing plans and strategies to boost the level of techniques to offer services to users and to expand continuous training programs. The limitations of the library and its services in this area are reflected in the problems that the community customers experience. The study also aimed at examining the library's potential role in marketing services, which was represented in the educational process and scientific research to develop and interact with worldwide quality standards as well as the implementation of local environmental laws. [ABSTRACT FROM AUTHOR]

ChatGPT is becoming more and more popular in the healthcare sector as a way to deliver quick and easy access to health information. However, little is known about how participants view ChatGPT when seeking health information. To find participants' perspectives on using ChatGPT for health information and to pinpoint areas where ChatGPT's functionality and design should be improved. Sixteen individuals who had used ChatGPT to look for health information underwent semi-structured interviews. Themes were found via thematic data analysis. ChatGPT was easy for participants to use and handy for getting health information. They did, however, voice reservations over the dependability and credibility of ChatGPT for more complicated medical situations. Additionally highlighted as essential requirements while seeking health information were emotional support and empathy. For healthcare professionals and Chatbot developers, the study's findings have both theoretical and real-world applications. The study highlights the necessity to create ChatGPT with accessibility, ease, trustworthiness, personalization, and usability in mind and underscores the significance of a person-centered approach to healthcare. ChatGPT has the potential to improve health information behavior. However, there is a constant demand for design and functionality advancements. [ABSTRACT FROM AUTHOR]

AUTS2 haploinsufficiency causes a neurodevelopmental disorder known as AUTS2, which is characterized by global developmental delay, intellectual disability, autistic features, congenital brain anomalies, and other malformations. In this study, we report a case of AUST2 syndrome and describe the clinical manifestations and genetic etiology as well as provide a review of the literature. A 5-year-old girl presented with neurodevelopmental manifestations, skeletal features and dysmorphic features. Whole exome sequencing was carried out for the proband. A novel, heterozygous variant (c.1606C>T) in AUTS2 gene was identified. Sanger sequencing confirmed the presence of this variant in the affected girl; however, it was not detected in all family members. The identified variant is predicted to cause premature termination of the corresponding AUTS2 protein (p.Gln536*), which will likely lack the C-terminal domain of the protein. This study revealed a novel de novo loss-of-function variant in the AUTS2 gene and further expanded the phenotypic and genetic spectra of the AUTS2 syndrome. Moreover, this result might be helpful in genetic counseling for families with clinical phenotypes related to this syndrome. Further functional experiments are required to validate the impact of the identified variant. [ABSTRACT FROM AUTHOR]

Katanin is a microtubule-severing complex whose catalytic activities are well characterized, but whose in vivo functions are incompletely understood. Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly. Loss of Katnb1 in mice confirms essential roles in neurogenesis and cell survival, while loss of zebrafish katnb1 reveals specific roles for katnin p80 in early and late developmental stages. Surprisingly, Katnb1 null mutant mouse embryos display hallmarks of aberrant Sonic hedgehog signaling, including holoprosencephaly. KATNB1-deficient human cells show defective proliferation and spindle structure, while Katnb1 null fibroblasts also demonstrate a remarkable excess of centrioles, with supernumerary cilia but deficient Hedgehog signaling. Our results reveal unexpected functions for KATNB1 in regulating overall centriole, mother centriole, and cilia number, and as an essential gene for normal Hedgehog signaling during neocortical development.

This paper examines the role of financial and epidemic crises on tourism loyalty. Using monthly data from January 1978 to February 2016, our analysis shows that tourists arriving to Singapore from 11 countries (Australia, Canada, China, France, Germany, Hong Kong, India, Japan, Taiwan, the UK, and the US) exhibit evidence of tourism loyalty, suggesting that international tourists considered Singapore as a long-run attractive tourist destination. During the five subsample periods, representing the four most recent global financial and epidemic crises (the AFC, SARS, the GFC and H1-N1), we find evidence of transitory effect, suggesting that international tourists considered Singapore as an attractive tourism destination in the short-run. We argue that shocks generated by the financial and epidemic crises strongly contribute to the existence of the permanent loyalty evidence, and that such evidence is likely to be spurious. [ABSTRACT FROM AUTHOR]