Müller-Lyer Illusion susceptibility is conditionally predicted by autistic trait expression.

Müller-Lyer (ML) figures bias size estimation consistently, yet different methods can lead to different degrees of illusory bias. Autistic individuals may also be less likely to perceive illusory biases with varying levels of autistic trait expression proposed to modulate reported illusory biases. The Autism-Spectrum Quotient (AQ) and Systemizing Quotient (SQ) are self-report measures that quantify autistic trait expression and systemizing ability in neurotypical individuals. The current study sought to determine if perceptions of illusory size bias negatively correlate with autistic trait expression and the extent to which varying methods of illusion presentation change the magnitude of illusory bias. Thirty neurotypical adults completed both questionnaires as well as four size estimation tasks. Two tasks involved perceptual discrimination of ML figures by concurrent and successive presentation, where participants selected the longer figure by keypress. For Tasks 3 and 4, participants adjusted the size of a non-illusory line (Task 3) or complementary illusory figure (Task 4) to match the perceived length. Overall, task performance was not correlated with autistic trait expression. One exception was a negative correlation with AQ when adjusting a complementary illusory ML figure in Task 4. Illusory biases were also stronger when two illusory figures were presented concurrently. Given these results, illusion susceptibility to the ML is suggested to be reduced with increases in AQ, but only when the method of illusion measurement is adjustment of concurrent illusory figures. Taken together the results provide evidence that traits associated with autism in a neurotypical population may systematically modulate perception.

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known CHD7 variants (9 pathogenic/likely pathogenic and 5 VOUS) and a range of reproductive and endocrine phenotypes. Reproductive organ anomalies were observed in 8 of 14 individuals and were more commonly noted in males (7/7), most of whom presented with micropenis and/or cryptorchidism. Kallmann syndrome was commonly observed among adolescents and adults with CHD7 variants. Remarkably, one 46,XY individual presented with ambiguous genitalia, cryptorchidism with Müllerian structures including uterus, vagina and fallopian tubes, and one 46,XX female patient presented with absent vagina, uterus and ovaries. These cases expand the genital and reproductive phenotype of CHD7 disorder to include two individuals with genital/gonadal atypia (ambiguous genitalia), and one with Müllerian aplasia.

Job satisfaction among oncology nurse practitioners.

BACKGROUND: One proposed solution to the predicted shortage of oncology nurse practitioners (NPs) is expanding the role of the oncology NP. However, role expansion may lead to an increase in work-related stress and a decrease in job satisfaction. It is important to understand oncology NPs' job satisfaction and stress and their intent to leave their job or profession in order to further develop and potentially expand the role. PURPOSE: The purpose of this study is to determine the main factors that affect job satisfaction, especially the relationship with stress and the intent to leave the oncology specialty. METHODS: A convenience sample of responses to a series of surveys administered by the Oncology Nursing Society and residing in the ONS database was used for this analysis. Exploratory data analysis, principal component analysis, and regression models were applied to explore characteristics of the questionnaires, assess the reliability of the Coping Skills Questionnaire, and find out main factors for their intent to leave. RESULTS: Items in the Coping Skills Questionnaire were internally consistent, and stress had a positive effect on NPs' intent to leave. Satisfaction and coping skills were also significant in some models; higher levels of satisfaction and coping skills resulted in lower levels of intent to leave. Moreover, several demographic factors such as having children, schedule days off, and patient population also affected the response significantly. IMPLICATIONS FOR PRACTICE: This study provides nursing leaders with information to guide retention of NPs.

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

Context: Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic ß cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism. Objective: To describe an infant with congenital hyperinsulinism and hypopituitarism as a result of a mutation in FOXA2 and to determine the functional impact of the identified mutation. Main Outcome Measure: Difference in wild-type (WT) vs mutant Foxa2 transactivation of target genes that are critical for ß cell function (ABCC8, KNCJ11, HADH) and pituitary development (GLI2, NKX2-2, SHH). Results: Transactivation by mutant Foxa2 of all genes studied was substantially decreased compared with WT. Conclusions: We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype.

Development of a youth-report measure of DPN symptoms: Conceptualization and content validation.

AIMS: To develop a content valid youth-report measure of diabetic peripheral neuropathy (DPN) symptoms. METHODS: Semi-structured interviews with 5 clinicians and 15 youth aged 8-17 with diabetes were conducted to elicit and clarify youth's DPN experiences. A systematic review of existing adult-report DPN symptom measures was conducted to identify item concepts representative of each experience. The concepts were transformed into items that were iteratively revised based on cognitive interviews (n = 13 youth aged 8-17) and readability analyses. RESULTS: Clinician and youth interviews supported a tripartite conceptual framework of youth DPN symptoms: paresthesia, pain, and anesthesia. Forty-eight youth-report items were generated to represent DPN symptoms identified through the semi-structured interviews and a systematic review of 13 symptom questionnaires for adults. Of these, 23 were eliminated and 3 were revised based on cognitive interviews conducted with youth. The remaining 25 items were on average, written at a 3rd grade reading level. CONCLUSIONS: This study is the first to generate a content valid self-report measure of youth's lived experiences with DPN that uses developmentally appropriate terminology. With further psychometric testing, the measure could be used to advance research on pediatric DPN and enhance clinicians' capacity to identify the condition in childhood.

Racial disparities in screening for diabetic retinopathy in youth with type 1 diabetes.

Of 1112 children with type 1 diabetes, dilated eye exams were performed in 717 (64%). Children were less likely to be screened for diabetic retinopathy (DR) if they were black (OR=1.6; p=0.005) or had poorer diabetes control (p=0.002). Those at greatest risk for DR were least likely to be screened.

The evaluation of peripheral neuropathy in youth with type 1 diabetes.

Of 151 youth with type 1 diabetes who were screened for peripheral neuropathy, and received nerve conduction studies, 11% were diagnosed with Diabetic Peripheral Neuropathy (DPN). DPN can occur in young children, with short diabetes duration, and good diabetes control. National guidelines for screening children for DPN should be developed.

Vitamin D status in abused and nonabused children younger than 2 years old with fractures.

OBJECTIVE: To examine vitamin D levels in children with (1) suspected abusive and accidental fractures, (2) single and multiple fractures, and (3) fracture types highly associated with inflicted trauma. DESIGN AND METHODS: A study of children younger than 2 years of age with fractures admitted to a large children's hospital was performed. Bivariate analysis and test for trend were performed to test for the association of vitamin D status and biochemical markers of bone health with the primary outcomes of fracture etiology, number, and type. RESULTS: Of 118 subjects in the study, 8% had deficient vitamin D levels (<20 ng/mL; <50 nmol/L), 31% were insufficient (≥20 < 30 ng/mL; ≥50 < 78 nmol/L), and 61% were sufficient (≥30 ng/mL; ≥78 nmol/L). Lower vitamin D levels were associated with higher incidences of hypocalcemia (P = .002) and elevated alkaline phosphatase (P = .05) but not hypophosphatemia (P = .30). The majority of children sustained accidental fractures (60%); 31% were nonaccidental and 9% were indeterminate. There was no association between vitamin D levels and any of the following outcomes: child abuse diagnosis (P = .32), multiple fractures (P = .24), rib fractures (P = .16), or metaphyseal fractures (P = .49). CONCLUSIONS: Vitamin D insufficiency was common in young children with fractures but was not more common than in previously studied healthy children. Vitamin D insufficiency was not associated with multiple fractures or diagnosis of child abuse. Nonaccidental trauma remains the most common cause of multiple fractures in young children.

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

OBJECTIVE: Heterozygous activating mutations of glucokinase have been reported to cause hypoglycemia attributable to hyperinsulinism in a limited number of families. We report three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of clinical phenotypes corresponding to marked differences in enzyme kinetics. RESEARCH DESIGN AND METHODS: Mutations were directly sequenced, and mutants were expressed as glutathionyl S-transferase-glucokinase fusion proteins. Kinetic analysis of the enzymes included determinations of stability, activity index, the response to glucokinase activator drug, and the effect of glucokinase regulatory protein. RESULTS: Child 1 had an ins454A mutation, child 2 a W99L mutation, and child 3 an M197I mutation. Diazoxide treatment was effective in child 3 but ineffective in child 1 and only partially effective in child 2. Expression of the mutant glucokinase ins454A, W99L, and M197I enzymes revealed a continuum of high relative activity indexes in the three children (26, 8.9, and 3.1, respectively; wild type = 1.0). Allosteric responses to inhibition by glucokinase regulatory protein and activation by the drug RO0281675 were impaired by the ins454A but unaffected by the M197I mutation. Estimated thresholds for glucose-stimulated insulin release were more severely reduced by the ins454A than the M197I mutation and intermediate in the W99L mutation (1.1, 3.5, and 2.2 mmol/l, respectively; wild type = 5.0 mmol/l). CONCLUSIONS: These results confirm the potency of glucokinase as the pancreatic beta-cell glucose sensor, and they demonstrate that responsiveness to diazoxide varies with genotype in glucokinase hyperinsulinism resulting in hypoglycemia, which can be more difficult to control than previously believed.

Operating expenses for the diagnosis and treatment of peripheral vascular disease in an academic interventional radiology department: cost calculations according to a microeconomic method.

PURPOSE: A correct understanding of the true costs of a procedure is necessary to make informed decisions in cost-effectiveness analyses. The actual comprehensive costs of performing cardiovascular and interventional radiology (CVIR) procedures were analyzed in the present study, as opposed to charges or ratios of costs to charges (RCCs), as often used in the literature. MATERIALS AND METHODS: Costs included labor, equipment, administration, facility establishment and maintenance, overhead, and consumable supplies. Cost identification was initially performed with use of an hourly rate that reflected the cost of operating the CVIR section. This was then combined with the costs of the consumable supplies used during each type of procedure. Eight types of vascular procedures were studied in 235 consecutive patients to determine mean procedure duration and supplies consumption. Costs were then compared with charges and RCCs of these procedures. RESULTS: The hourly rate for operating one angiography suite was 690 dollars. Average cost by procedure, including hourly rate plus consumable supplies, were: aortic arteriogram, 1,442 dollars; aortobifemoral arteriogram, 1,554 dollars; unilateral limb arteriogram, 1,307 dollars; simple iliac or femoropopliteal angioplasty, 2,119 dollars; arterial stent placement, 2,780 dollars; percutaneous thrombectomy, 1,998 dollars; arterial in situ thrombolysis, 3,133 dollars; and arteriogram after thrombolysis, 926 dollars. RCCs calculated for each procedure ranged from 0.39 (thrombectomy) to 1.92 (control arteriography during or after thrombolysis) and were lower than expected based on previous reports. CONCLUSIONS: The average actual costs of several common diagnostic and therapeutic procedures for peripheral vascular occlusive disease were established, allowing determination of the relative importance of different cost components. This methodology may serve as a template for future cost analyses.

Relationship between estrogen use and musculoskeletal function in postmenopausal women.

OBJECTIVES: The purpose of this study was to examine the relationship between estrogen use and muscle strength, bone mineral density (BMD), and body composition variables in postmenopausal women. Forty healthy, untrained women participated in this study. Subjects (53-65 years) were > or =5 years postmenopausal and were categorized into either estrogen replacement therapy (ERT n=20) or non-estrogen replacement therapy (Non-ERT n=20) groups. METHODS: Muscular strength was measured by 1-RM testing using Cybex isotonic weight machines. Handgrip strength was measured using a handgrip dynamometer. Diagnostic Ultrasound was used to determine cross-sectional areas of the biceps brachii and rectus femoris muscle groups. BMD of the lumbar spine, proximal femur, and total body was assessed by Dual Energy X-Ray Absorptiometry (Lunar DPX-IQ). Body composition variables were obtained from the total body scan. Serum osteocalcin was measured as an indicator of bone remodeling. RESULTS: There were no significant differences (P>0.05) for isotonic muscular strength, muscle cross-sectional areas, handgrip strength, or percent fat between ERT and Non-ERT groups. ERT had significantly higher (P<0.05) BMD for the total body, femoral neck and Ward's Area. There were moderate positive relationships between lean body mass and the hip sites (r=0.61-0.70, P<0.05). Regression analyses determined that lean body mass was the strongest predictor of the hip BMD sites. Estrogen use also was a significant predictor for the femoral neck and Ward's Area sites. CONCLUSION: Women taking estrogen exhibited similar muscular strength, muscle size, and body composition as their estrogen-deficient counterparts. Estrogen use was also associated with higher BMD for the total body and hip sites. Generally, body composition, specifically lean body mass, influenced hip BMD more than muscular strength or estrogen use.