Genetic and Syndromic Causes of Obesity and its Management.

The aim of this article is to provide an in depth review of the rare genetic and syndromic forms of childhood obesity. The authors demonstrate the complexity and inter-relationships of the leptin-melanocortin signaling pathway and its central nervous system and systemic effects. Authors highlight the clinical distinctive features of genetic/syndromic causes for childhood obesity, in particular, relative shorter height to their genetic potential, developmental challenges and in some instances, ophthalmological and retina changes. They outline specific genetic testing and treatment options available for these conditions.

Physical Activity, Fitness, and Cardiometabolic Risk Factors in Adult Survivors of Childhood Cancer with a History of Hematopoietic Cell Transplantation.

Along with other childhood cancer survivors (CCS), hematopoietic cell transplantation (HCT) survivors are at high risk of treatment-related late effects, including cardiovascular disease and diabetes. Cardiometabolic risk factor abnormalities may be exacerbated by inadequate physical activity (PA). Relationships between PA and cardiometabolic risk factors have not been well described in CCS with HCT. PA (self reported), mobility (timed up and go test), endurance (6-minute walk test), handgrip strength, and cardiometabolic risk factors were measured in 119 HCT survivors and 66 sibling controls ages ≥18 years. Adjusted comparisons between HCT survivors and controls and between categories of low and high PA, mobility, endurance, and strength were performed with linear regression. Among HCT survivors, the high PA group had lower waist circumference (WC) (81.9 ± 2.5 versus 88.6 ± 3.1 cm ± standard error (SE), P = .009) than the low PA group, whereas the high endurance group had lower WC (77.8 ± 2.6 versus 87.8 ± 2.5 cm ± SE, P = .0001) and percent fat mass (33.6 ± 1.8 versus 39.4 ± 1.7% ± SE, P = .0008) and greater insulin sensitivity (IS) (10.9 ± 1.0 versus 7.42 ± 1.14 mg/kg/min ± SE via euglycemic insulin clamp, P = .001) than the low endurance group. Differences were greater in HCT survivors than in controls for WC between low and high PA groups, triglycerides between low and high mobility groups, and WC, systolic blood pressure, and IS between low and high endurance groups (all Pinteraction <.05). Higher endurance was associated with a more favorable cardiometabolic profile in HCT survivors, suggesting that interventions directed to increase endurance in survivors may reduce the risk of future cardiovascular disease.

Improving care for pediatric diabetic ketoacidosis.

OBJECTIVE: We sought to create and implement recommendations from an evidence-based pathway for hospital management of pediatric diabetic ketoacidosis (DKA) and to sustain improvement. We hypothesized that development and utilization of standard work for inpatient care of DKA would lead to reduction in hypokalemia and improvement in outcome measures. METHODS: Development involved systematic review of published literature by a multidisciplinary team. Implementation included multidisciplinary feedback, hospital-wide education, daily team huddles, and development of computer decision support and electronic order sets. RESULTS: Pathway-based order sets forced clinical pathway adherence; yet, variations in care persisted, requiring ongoing iterative review and pathway tool adjustment. Quality improvement measures have identified barriers and informed subsequent adjustments to interventions. We compared 281 patients treated postimplementation with 172 treated preimplementation. Our most notable findings included the following: (1) monitoring of serum potassium concentrations identified unanticipated hypokalemia episodes, not recognized before standard work implementation, and earlier addition of potassium to fluids resulted in a notable reduction in hypokalemia; (2) improvements in insulin infusion management were associated with reduced duration of ICU stay; and (3) with overall improved DKA management and education, cerebral edema occurrence and bicarbonate use were reduced. We continue to convene quarterly meetings, review cases, and process ongoing issues with system-based elements of implementing the recommendations. CONCLUSIONS: Our multidisciplinary development and implementation of an evidence-based pathway for DKA have led to overall improvements in care. We continue to monitor quality improvement metric measures to sustain clinical gains while continuing to identify iterative improvement opportunities.

Pediatric diabetic ketoacidosis management in the era of standardization.

Up to 70% of children with new-onset Type 1 diabetes mellitus (T1DM) present with diabetic ketoacidosis (DKA), with most cases initially assessed by their primary care provider. DKA is the most common cause of death in children with T1DM, mainly related to cerebral edema that occurs at a frequency of 0.15-4.6%. Early recognition of DKA can be improved by increasing the awareness of early clinical symptoms such as enuresis, polyuria and polydipsia. Clinical acumen paired with early assessment of patients with suspected T1DM and known T1DM, particularly if risk factors for DKA are present, can prevent serious complications and fatal outcomes. Urgent referral to specialist centers for suspected new-onset T1DM/DKA is required. A standardized approach is recommended to be followed to ensure successful initial management of DKA, both in the nonspecialist setting before transfer and in the more specialized hospital setting. This article outlines such a management approach.

Ocular myasthenia gravis and Graves disease in a 10-year-old child.

We report the association between myasthenia gravis and Graves disease in a 10-year-old boy and discuss the important aspects of both diseases, the importance of recognizing the association, and the investigations of choice to distinguish the 2 disorders. Early diagnosis of the 2 disorders may help in effective treatment institution with more rapid treatment responses with a possible improvement in prognosis and clinical course. Resolution of myasthenia gravis is not expected until the euthyroid state is restored. We recommend complete thyroid status review on all patients presenting with ocular myasthenia gravis.

Satisfaction of care in a tertiary level diabetes clinic: correlations with diabetes knowledge, clinical outcome and health-related quality of life.

AIM: Patient satisfaction is regarded as an integral component of the quality of medical care. Therefore, as part of an ongoing process of outcome assessment, we analysed levels of satisfaction of care among patients and parents in our diabetes clinic and its relationship to short-term metabolic control outcome, diabetes knowledge and health-related quality of life (HRQOL). METHODS: In 2004, parents and their children aged 5-18 years attending the Royal Children's Hospital (RCH) diabetes clinic completed questionnaires reporting their satisfaction with care provided, HRQOL and diabetes knowledge. Concurrent HbA(1c) levels were also recorded. The reporting profile was 83 patients, 24 fathers and 110 mothers. RESULTS: Generally, both patients and parents were satisfied with diabetes care provided at our tertiary centre. Satisfaction of care was not associated with the clinical outcome of metabolic control (measured by HbA(1c) levels), diabetes knowledge or HRQOL measures. CONCLUSION: Most patients and their parents in the RCH diabetes clinic appear generally satisfied with their diabetes care. The degree of satisfaction of care cannot be presumed according to clinical outcome, diabetes knowledge or HRQOL measures.