DSD

OBJECTIVE: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's hospital (AUCH), Alexandria, Egypt, during the period between 2018 and 2023...

OBJECTIVES: Nuclear receptor subfamily 5 group A member 1 ( NR5A1 ) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). CASE REPORT: A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had a phallus, perineal hypospadias, labial fusion, and a hypoplastic scrotum...

CONTEXT: In this study, we investigated the antioxidant potential of a novel ascorbic acid analog, DsD, assessing its interactions with the methylperoxyl (CH3OO·) radical in aqueous and lipid environments. Our focus was on understanding the acid-base equilibrium and how pH affects DsD's primary reaction mechanisms. Our findings indicate a marked preference for hydrogen atom transfer in lipid media, contrasting with sequential proton loss electron transfer (SPLET) in aqueous solutions...

The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on Rare Endocrine Conditions (Endo-ERN).The presented data is the outcome of > 15 years long standing collaboration between MGFT and endocrine specialists from the local government hospitals and the private sector. Up-to-date > 2000 genetic tests have been performed for the diagnosis of inherited rare endocrine disorders...

BACKGROUND: The decision regarding sex rearing in patients with Disorders of Sex Development (DSD) is heavily connected to the shared decision-making model within multidisciplinary team. Some of these patients might develop gender dysphoria, when they become adults. We have aimed to evaluate the long-term outcomes of patients with XY DSD who underwent female gender assignment at our center. METHODS: We have conducted a retrospective study of all 46, XY DSD patients who underwent female assignment in our institution over the last 30 years...

This cross-sectional study investigate the association between long working hours, short sleep duration, and mental health among Japanese physicians. We enrolled 232 Japanese physicians. We used the Brief Job Stress Questionnaire to assess high-stress status, and the Japanese version of the Center for Epidemiologic Studies Depression scale to assess depressive status. Daily sleep duration (DSD) and weekly working hours (WWHs) were collected using a self-administered questionnaire. Multivariable-adjusted logistic regression analysis was performed to examine the association of the combined categories of DSD and WWHs with high-stress and depressive status...

CONTEXT: Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates sex development, steroidogenesis and reproduction. Genetic variants in NR5A1/SF-1 are common among differences of sex development (DSD) and associate with a wide range of phenotypes, but their pathogenic mechanisms remain unclear. OBJECTIVE: Novel, likely disease-causing NR5A1/SF-1 variants from the SF1next cohort of individuals with DSD were characterized to elucidate their pathogenic effect...

Oil dispersion, a crucial process in oil transport, involves the detachment of oil droplets from slicks and their introduction into the water column, influencing subsequent oil migration and transformation. This study examines oil dispersion, considering characteristics, stability, and mechanisms, while evaluating the impact of dispersants and salinity. Results show the significant role of surfactant type in dispersants on oil dispersion characteristics, with anionic surfactants exhibiting higher sensitivity to salinity changes compared to nonionic surfactants...

Acyl carrier proteins (ACPs) have been reported to play a crucial role in responding to biotic and abiotic stresses, regulating growth and development. However, the biological function of the ACP gene family in the Brassica genus has been limited until now. In this study, we conducted a comprehensive analysis and identified a total of 120 ACP genes across six species in the Brassica genus. Among these, there were 27, 26, and 30 ACP genes in the allotetraploid B. napus , B. juncea , and B. carinata , respectively, and 14, 13, and 10 ACP genes in the diploid B...

Detrusor sphincter dyssynergia (DSD) is defined as a detrusor contraction concurrent with an involuntary contraction of the urethral and/or periurethral striated muscles typically occurring in a patient with a spinal cord lesion above the sacral cord. Consequently, high urethral closure pressures during the detrusor contraction leads to high intravesical voiding pressure and large postvoid residuals, which can lead to significant complications in up to 50% of patients if DSD is not treated and followed-up regularly...

BACKGROUND: The esthetics of a smile holds significant importance in an individual's self-esteem and overall quality of life. In the realm of cosmetic dentistry, smile design has traditionally relied on conventional methods, but recent advances in technology have introduced digital smile design (DSD) as a promising alternative. MATERIALS AND METHODS: In this randomized controlled trial, 150 adult patients seeking smile enhancement procedures were enrolled and randomly assigned to one of two groups: the DSD group or the conventional smile design group...

OBJECTIVE: Aim: The objective of this review paper is to comprehensively analyze and summarize the current understanding and clinical applications of Botulinum toxin in the field of urology. PATIENTS AND METHODS: Materials and Methods: The materials and methods for this review paper involved an extensive literature search on the use of Botulinum toxin in urology. Multiple online databases such as PubMed, Web of Science, and Google Scholar were utilized to gather peer-reviewed articles, clinical trials, and relevant books published within the last decades...

BACKGROUND: Epidemiologic studies suggested the association between prenatal di-(2-ethylhexyl) phthalate (DEHP) exposure and disorders of sex development (DSD), adult male disorders, and reproductive aging. Inhibiting testosterone synthesis by interfering with steroidogenic gene expression induces testicular toxicity, however, whether prenatal DEHP exposure induces testicular toxicity through this mechanism remains uncertain. METHODS: C57BL/6JGpt male mice underwent different doses (0, 100, 500, 1,000 mg/kg) of prenatal DEHP exposure during gestational day 10 to delivery day, the testicular toxicity (genital development, testosterone, semen quality, and morphology of testis tissue) in the neonatal, post-puberal and middle-aged stages was observed, and the steroidogenic gene ( Lhcgr , Star , Cyp11a1 , Cyp17a1 , Hsd17b3 , and Hsd3b2 ) expression was analyzed by quantitative polymerase chain reaction (qPCR) and Western blot (WB)...

Calophaca sinica is a rare plant endemic to northern China which belongs to the Fabaceae family and possesses rich nutritional value. To support the preservation of the genetic resources of this plant, we have successfully generated a high-quality genome of C. sinica (1.06 Gb). Notably, transposable elements (TEs) constituted ~73% of the genome, with long terminal repeat retrotransposons (LTR-RTs) dominating this group of elements (~54% of the genome). The average intron length of the C. sinica genome was noticeably longer than what has been observed for closely-related species...

OBJECTIVE: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's hospital (AUCH), Alexandria, Egypt, during the period between 2018 and 2023...

BACKGROUND: Danggui Sini decoction (DSD), a traditional Chinese medicine formula, has the function of nourishing blood, warming meridians, and unblocking collaterals. Our clinical and animal studies had shown that DSD can effectively protect against oxaliplatin (OXA)-induced peripheral neuropathy (OIPN), but the detailed mechanisms remain uncertain. Multiple studies have confirmed that gut microbiota plays a crucial role in the development of OIPN. In this study, the potential mechanism of protective effect of DSD against OIPN by regulating gut microbiota was investigated...

Elite individual sports in which success depends on power, speed or endurance are conventionally divided into male and female events using traditional binary definitions of sex. Male puberty creates durable physical advantages due to the 20-30-fold increase in circulating testosterone producing a sustained uplift in men's muscle, bone, hemoglobin, and cardiorespiratory function resulting from male puberty and sustained during men's lives. These male physical advantages provide strong justification for separate protected category of female events allowing women to achieve the fame and fortune from success they would be denied if competing against men...

OBJECTIVE: Illness intrusiveness refers to the subjective cognitive appraisal of a chronic health condition interfering in daily, valued activities and may be highly relevant for parents of children with atypical genital appearance due to differences of sex development (DSD). However, a measure of illness intrusiveness has not been validated for this population. The current study aimed to evaluate the factor structure of the Illness Intrusiveness Scale for Parents (IIS-P) and examine convergent validity...

This report describes the bone reduction guide which was digitally obtained to improve diagnosis, treatment outcome and follow-up. Treatment of gingival smiles due to altered passive eruption should include interdisciplinary planning and smile design to facilitate the prediction of treatment outcome. Crown lengthening surgery can be supported by digital tools to improve surgical planning and follow-up. A 30-year-old female patient was referred to a private dental clinic seeking solutions for her gingival smile...

BACKGROUND: Human beings with a difference in sexual development (DSD) often underwent gender reassignment surgery during early childhood. However, the medical decision was often not congruent with the gender identity that affected persons developed later on. OBJECTIVES: To represent the interests of affected persons, an interdisciplinary guideline in cooperation with support groups was written. MATERIALS AND METHODS: The revision of the first version of the guideline, published in 2016, was edited by 18 professional societies and working groups as well as 3 support groups...