White matter microstructure and functional connectivity in the brains of infants with Turner syndrome.

Turner syndrome, caused by complete or partial loss of an X-chromosome, is often accompanied by specific cognitive challenges. Magnetic resonance imaging studies of adults and children with Turner syndrome suggest these deficits reflect differences in anatomical and functional connectivity. However, no imaging studies have explored connectivity in infants with Turner syndrome.

Turner syndrome: language profile of young girls at 12 and 24 months of age.

Background: Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers.

Method: This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be "at risk" for language delays.

Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the "Toddler Turner" Cohort.

Introduction: In the randomized "Toddler Turner" study, girls who received growth hormone (GH) starting at ages 9 months to 4 years (early-treated [ET] group) had marked catch-up growth and were 1.6 ± 0.6 SD taller than untreated (early-untreated [EUT]) control girls after 2 years.

Early Development of Infants with Turner Syndrome.

Objective: To examine the early cognitive, temperament, and adaptive functioning of infants and toddlers with Turner syndrome (TS).

Methods: Cognitive abilities were measured using the Mullen Scales of Early Learning at 1 year of age for 31 girls with TS and compared with neurotypical female (N = 53) and male (N = 54) control groups. Temperament (Carey Toddler Temperament Scales) and adaptive functioning (Vineland Adaptive Behavior Scales-Second Edition) were measured at 1 year of age and compared with normative data.

Increasing Rates of Opioid Misuse Among Older Adults Visiting Emergency Departments.

Objective: This study sought to investigate factors associated with opioid misuse-related emergency department (ED) visits among older adults and changes in outcomes associated with these visits, using multiple years of nationally representative data.

Methods: A retrospective analysis of the Nationwide Emergency Department Sample was conducted. Study inclusion was limited to adults aged 65 years and older.

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.

Noonan syndrome (NS), the most common of the RASopathies, is a developmental disorder caused by heterozygous germline mutations in genes encoding proteins in the RAS-MAPK signaling pathway. Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. All NSLH1 reported cases to date have had an SHOC2 c.

T Follicular Helper Cell-Dependent Clearance of a Persistent Virus Infection Requires T Cell Expression of the Histone Demethylase UTX.

Epigenetic changes, including histone methylation, control T cell differentiation and memory formation, though the enzymes that mediate these processes are not clear. We show that UTX, a histone H3 lysine 27 (H3K27) demethylase, supports T follicular helper (Tfh) cell responses that are essential for B cell antibody generation and the resolution of chronic viral infections. Mice with a T cell-specific UTX deletion had fewer Tfh cells, reduced germinal center responses, lacked virus-specific immunoglobulin G (IgG), and were unable to resolve chronic lymphocytic choriomeningitis virus infections.

Improving detection of hypertension in girls with turner syndrome using ambulatory blood pressure monitoring.

Background/aims: Turner syndrome (TS) is associated with increased mortality due to cardiovascular disease and a dramatically higher rate of aortic dissection. The recognition and treatment of hypertension in this population is critical. We sought to assess the ability to detect blood pressure (BP) abnormalities comparing ambulatory blood pressure monitoring (ABPM) with conventional BP measurement methods.

Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

Importance: The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation.

Objectives: To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome.

Design: A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome.

Growth hormone therapy in Turner syndrome.

Short stature is the single most common physical abnormality in Turner syndrome (TS) with adult stature averaging 20 cm shorter than that of the general population. Randomized, placebo-controlled studies to final adult height have proven that GH therapy is effective in increasing stature in TS. Recently, randomized, controlled studies have demonstrated that adjunctive therapies with low-dose estrogen or low-dose oxandrolone enhance stature further.

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders.

Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g.

Growth hormone treatment does not affect incidences of middle ear disease or hearing loss in infants and toddlers with Turner syndrome.

Context: No randomized, controlled, prospective study has evaluated the effect of growth hormone (GH) on the rates of middle ear (ME) disease and hearing loss in girls with Turner syndrome (TS).

Design: A 2-year, prospective, randomized, controlled, open-label, multicenter, clinical trial ('Toddler Turner Study'; August 1999 to August 2003) was carried out.

Setting: The study was conducted at 11 US pediatric endocrine centers.

Approach to the patient with Turner syndrome.

Turner syndrome (TS) occurs in about 1:4000 live births and describes females with a broad constellation of problems associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm. TS is associated with an astounding array of potential abnormalities, most of them thought to be caused by haploinsufficiency of genes that are normally expressed by both X chromosomes. A health care checklist is provided that suggests screening tests at specific ages and intervals for problems such as strabismus, hearing loss, and autoimmune thyroid disease.

Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome.

Turner syndrome (TS) is a relatively common disorder of phenotypic females caused by loss of all or part of the second sex chromosome. Most individuals with TS have short stature and gonadal dysgenesis and are at risk for many other medical and learning problems. In the 45,X ovary, germs cells multiply quite normally during fetal development, but there is accelerated atresia of oocytes in the second half of pregnancy that produces gonadal insufficiency by birth.

College and university compliance with a required meningococcal vaccination law.

Objective: Maryland became the first state to pass a vaccination law requiring college and university students living on campus to obtain a meningococcal vaccination or to sign a waiver refusing vaccination because college students are at increased risk for disease. The authors sought to identify how Maryland colleges addressed the law and determine whether schools were in full compliance.

Participants: The authors surveyed 32 college/university administrators via a self-administered questionnaire.

Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial.

Context: Typically, growth failure in Turner syndrome (TS) begins prenatally, and height sd score (SDS) declines progressively from birth.

Objective: This study aimed to determine whether GH treatment initiated before 4 yr of age in girls with TS could prevent subsequent growth failure. Secondary objectives were to identify factors associated with treatment response, to determine whether outcome could be predicted by a regression model using these factors, and to assess the safety of GH treatment in this young cohort.

Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age.

Context: Little information exists regarding FSH values in very young girls with Turner syndrome (TS).

Objectives: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS.

Study Design: FSH was measured at study entry and annually for 2 yr.

Continuous subcutaneous glucose monitoring in children with type 1 diabetes mellitus: a single-blind, randomized, controlled trial.

Background: Tight glycemic control delays the long-term complications of type 1 diabetes mellitus (T1DM) but increases the risk for hypoglycemia. The continuous glucose-monitoring system (CGMS) provides blood glucose (BG) readings every 5 min, and its accuracy and reliability has been established in adults. However, there are limited data on its efficacy and safety in children.

Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome.

Results from the first randomized, controlled trial of growth hormone (GH) therapy in girls with Turner syndrome (TS) followed to final height firmly establish that GH increases final adult stature. It is widely believed that the efficacy of GH is dependent upon the duration of therapy and dosing (longer duration and higher dose give taller final height). In a recent observational study involving more than 1500 French girls with TS, multivariate analyses demonstrated that the age at initiation of GH therapy accounted for a large percentage of the variance (44%) in response.

Gonadotropin secretion in girls with turner syndrome measured by an ultrasensitive immunochemiluminometric assay.

Background/aim: Gonadotropin levels measured by radioimmunoassays are high in girls with Turner syndrome (TS), but overlap significantly with those of normal girls. We hypothesized that gonadotropin levels would be above the normal range in TS when measured by ultrasensitive assays.

Methods: Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were measured in 68 TS, and 133 control girls using ultrasensitive immunochemiluminometric assays (ICMA).

Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings.

Turner syndrome is a genetic disorder that results from an abnormal or missing X chromosome in females and is typically associated with impairments in visuospatial, but not verbal, information processing. These visuospatial processing impairments may be exacerbated with increased task demands, such as those engaged during working memory (WM). While previous studies have examined spatial WM function in Turner syndrome, none have directly compared the neural correlates of spatial and verbal WM processes across the encoding, maintenance and retrieval phases.

Central obesity, the metabolic syndrome, and plasminogen activator inhibitor-1 in young adults.

Purpose: To determine the association of central obesity with the components of the metabolic syndrome (i.e., hyperinsulinemia, hypertension, hypertriglyceridemia, low levels of high-density lipoprotein cholesterol [HDL-C]) and plasma levels of plasminogen activator inhibitor-1 (PAI-1) in young adults.