Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.

Objectives: Juvenile-onset systemic lupus erythematosus (jSLE) affects 15-20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated with SLE/SLE-like disease in a large national cohort (UK JSLE Cohort Study) and compare demographic, clinical and laboratory features in patient sub-cohorts with 'genetic' SLE vs remaining SLE patients.

Predictive validity of developmental screening in young children with sickle cell disease: a longitudinal follow-up study.

Aim: To assess the predictive validity of developmental screenings in children with sickle cell disease (SCD) for academic outcomes and stroke risk.

Method: Parent questionnaires and medical record data were collected for a cohort receiving developmental screenings between September 2004 and May 2008 as toddlers or early school age. Screening outcomes were dichotomized (positive, negative) by a priori criteria.

Comorbid obstructive sleep apnea and increased risk for sickle cell disease morbidity.

Purpose: Sickle cell disease (SCD) imparts an increased risk for obstructive sleep apnea (OSA) in childhood. Studies of pediatric SCD have identified an increased risk for pain and neurologic complications with comorbid OSA. We determined the rate of a broad range of SCD-related medical complications to better characterize the spectrum of SCD complications related to OSA.

Parent Perspectives on Pain Management in Preschool-Age Children With Sickle Cell Disease.

Pain episodes occur for many preschoolers with sickle cell disease (SCD), but little is known about parent perceptions of managing pain episodes in young children. We surveyed parents of young children with SCD who had managed pain episodes in the past year to assess their management and satisfaction with their strategies, challenges of pain management, and interest in additional education. Parents were recruited from health maintenance visits at a SCD specialty clinic.

Developmental Screening in Pediatric Sickle Cell Disease: Disease-Related Risk and Screening Outcomes in 4 Year Olds.

Objective: Studies of early child development in sickle cell disease (SCD) have found modest associations between disease-related risks and developmental status in infants and toddlers, but such associations are evident by early elementary school. We screened 4-year-old children with SCD using 2 screening strategies to assess if biomedical risk factors for neurologic disease are related to developmental screening outcomes at this intermediate age.

Methods: Seventy-seven 4-year-old children with SCD (M = 4.

Examining Biopsychosocial Factors in Relation to Multiple Pain Features in Pediatric Sickle Cell Disease.

Objective: To examine biopsychosocial variables in relation to multiple pain features in pediatric sickle cell disease (SCD).

Methods: 76 children with SCD (M = 14.05, SD = 3.

Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial.

Background: For children with sickle cell anaemia and high transcranial doppler (TCD) flow velocities, regular blood transfusions can effectively prevent primary stroke, but must be continued indefinitely. The efficacy of hydroxycarbamide (hydroxyurea) in this setting is unknown; we performed the TWiTCH trial to compare hydroxyurea with standard transfusions.

Methods: TWiTCH was a multicentre, phase 3, randomised, open-label, non-inferiority trial done at 26 paediatric hospitals and health centres in the USA and Canada.

Effects of hydroxyurea treatment for patients with hemoglobin SC disease.

Although hemoglobin SC (HbSC) disease is usually considered less severe than sickle cell anemia (SCA), which includes HbSS and HbS/β(0) -thalassemia genotypes, many patients with HbSC experience severe disease complications, including vaso-occlusive pain, acute chest syndrome, avascular necrosis, retinopathy, and poor quality of life. Fully 20 years after the clinical and laboratory efficacy of hydroxyurea was proven in adult SCA patients, the safety and utility of hydroxyurea treatment for HbSC patients remain unclear. Recent NHLBI evidence-based guidelines highlight this as a critical knowledge gap, noting HbSC accounts for ∼30% of sickle cell patients within the United States.

Changes in coping, pain, and activity after cognitive-behavioral training: a randomized clinical trial for pediatric sickle cell disease using smartphones.

Objectives: We examined the outcomes of a cognitive-behavioral therapy (CBT) intervention for pain in pediatric sickle cell disease (SCD) using smartphones as a novel delivery method.

Materials And Methods: Forty-six children with SCD received CBT coping skills training using a randomized, waitlist control design. The intervention involved a single session of CBT training and home-based practice using smartphones for 8 weeks.

Association between somatic growth trajectory and cognitive functioning in young children with sickle cell disease.

Children with sickle cell disease are at risk of cognitive deficits and somatic growth delays beginning in early childhood. We examined growth velocity from age 2 years (height and body mass index progression over time) and cognitive functioning in 46 children with sickle cell disease 4 to 8 years of age. Height-for-age velocity was not associated with cognitive outcomes.

Information-seeking coping behaviors during painful procedures in African-American children with sickle cell disease.

This study examined the frequency of information-seeking coping behaviors in 37 African-American children (ages 5-17 years) with sickle cell disease during venipuncture. The relationships between coping behaviors and child- and parent-reported pain and observational distress were also assessed. The majority of children attended to the procedure, but did not seek information via questions.

Sensitization to acute procedural pain in pediatric sickle cell disease: modulation by painful vaso-occlusive episodes, age, and endothelin-1.

Unlabelled: The impact of pain early in life is a salient issue for sickle cell disease (SCD), a genetic condition characterized by painful vaso-occlusive episodes (VOEs) that can begin in the first year of life and persist into adulthood. This study examined the effects of age and pain history (age of onset and frequency of recent VOEs) on acute procedural pain in children with SCD. Endothelin-1, a vaso-active peptide released during VOEs and acute tissue injury, and its precursor, Big Endothelin, were explored as markers of pain sensitization and vaso-occlusion.

Responsiveness of the PedsQL to pain-related changes in health-related quality of life in pediatric sickle cell disease.

Objective: To determine if caregiver report of the pediatric quality of life inventory (PedsQL) is responsive to changes in health-related quality of life (HRQL) associated with pain episodes in pediatric sickle cell disease (SCD).

Methods: 81 caregivers of children ages 2-19 years with SCD completed the PedsQL as part of routine psychosocial screenings at 2 time points, ranging from 6 to 18 months apart. Frequency of SCD-related pain episodes between time points was assessed using medical chart review.

Epidermal inclusion cyst of the clitoris 30 years after female genital mutilation.

Objective: To present a case report of a patient with epidermal inclusion cyst as a late complication of female circumcision, the management of the patient, and a review of the literature.

Design: Case report and literature review.

Setting: University hospital.

Cerebral blood flow velocity and language functioning in pediatric sickle cell disease.

We investigated the association of increased cerebral blood flow velocity with specific language abilities in children with sickle cell disease (SCD). Thirty-nine children ages 5 to 8 years old with high-risk genotypes of SCD underwent cognitive testing, which included tests of language skills, visual motor skills, and attention/working memory as part of a routine hematology health-maintenance visit. Transcranial Doppler (TCD) velocities were obtained from review of medical records, with the velocities that were in closest temporal proximity to the cognitive assessment used in the analysis.

Relationships between somatic growth and cognitive functioning in young children with sickle cell disease.

Objective: Children with sickle cell disease (SCD) exhibit poor somatic growth due to nutritional and metabolic effects, but potential relationships between growth and other areas of development are unclear. We examined whether growth is related to cognition and whether growth might be one marker of neurocognitive risk.

Methods: Sixty-four children with SCD and eighty-one demographically similar controls, ages 4 to 8 years, completed cognitive and anthropometric measures.

Congenital anomalies of the uterine cervix: lessons from 30 cases managed clinically by a common protocol.

Objectives: To outline the anatomic variations of malformations of the uterine cervix and to discuss the clinical management of cervical agenesis and dysgenesis.

Design: Thirty patients who were treated for cervical malformations in six institutions during a 69-year interval are reviewed.

Setting: Hospital-based tertiary-care reproductive endocrine infertility units.

Criterion and convergent validity for 4 measures of pain in a pediatric sickle cell disease population.

Objective: To evaluate the psychometric properties of 4 measures of acute pain in youth with sickle cell disease (SCD) during a medical procedure.

Methods: Heart rate, child self-report, parent proxy-report, and observable pain behaviors were examined in 48 youth with SCD ages 2 to 17 years. Criterion validity for acute pain was assessed by responsiveness to a standardized painful stimulus (venipuncture) in a prospective pre-post design.

Horizontal uterine torsion in the setting of complete cervical and partial vaginal agenesis: a case report.

Objective: To report a case in which uterine torsion in a nulligravid female adolescent was noted upon surgical management of complete cervical and partial vaginal agenesis.

Design: Case report.

Setting: University hospital.

Language processing deficits in sickle cell disease in young school-age children.

Verbal IQ deficits are frequently reported for school-age children with sickle cell disease (SCD), yet the profile of language abilities in SCD is unclear. We examined semantic, syntactic, and phonological processing in five-to-seven-year-olds at high neurologic risk based on SCD subtype (N = 33), at low neurologic risk with SCD (N = 21), and without SCD (N = 54). Low-risk SCD did not show language processing deficits.

Use of handheld wireless technology for a home-based sickle cell pain management protocol.

Purpose: To evaluate use of a handheld electronic wireless device to implement a pain management protocol for participants with sickle cell disease (SCD).

Methods: Participants were 19 patients with SCD aged 9-20 who experienced vaso-occlusive pain. A single-session training on the use of cognitive-behavioral coping skills was followed by instruction on how to practice these skills and monitor daily pain experience using the device.

Applications of estradiol and testosterone assays in the management of the infertile female patient.

A collaborative effort to improve steroid hormone measurements in patient care was convened by the Centers for Disease Control in March 2008 to discuss the need for enhanced performance and standardization of clinical estradiol and testosterone assays. This article discusses the current status of estradiol and testosterone assays in the treatment of infertile women to include the assessment of ovarian reserve, ovulation induction and follicle tracking, ovarian hyperstimulation syndrome, and the role of testosterone in fertility management.

Validity of the Pediatric Quality Of Life Inventory for youth with sickle cell disease.

Objective: Evaluate the validity of the Pediatric Quality of Life Inventory (PedsQL) for sickle cell disease (SCD).

Methods: Sixty-eight parent-child dyads (children 5-18 years) completed the PedsQL. Medical record review assessed history of specific morbidities.