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Biomedical subjects

Joseph I Wolfsdorf

Publications and source records attributed to Joseph I Wolfsdorf.

At least 19 recordsLinked to original sources
PubMed2006

Characteristics at diagnosis of type 1 diabetes in children younger than 6 years.

OBJECTIVE: To characterize the prodrome, presentation, family history, and biochemical status at diagnosis of type 1 diabetes mellitus (T1D) in children under age 6 years. STUDY DESIGN: This was a retrospective chart review of patients hospitalized at diagnosis with T1D from 1990 to 1999 in a children's hospital. RESULTS: A total of 247 children were hospitalized, 44% of whom presented in diabetic ketoacidosis (DKA). When stratified by 2-year age intervals, only total carbon dioxide (tCO(2)) was significantly lower in the youngest children (P = .02), and the duration of candidiasis was significantly longer in those children presenting in DKA (P = .004). Parents were more likely to recognize symptomatic hyperglycemia in children older than 2 years (P < .0001). Most parents sought care for their child suspecting that the child had diabetes; the other children were diagnosed when presenting with another concern. Only gender and tCO(2) were significantly correlated with hemoglobin A1c (HbA1c); age-adjusted HbA1c was 0.64% higher in girls compared with boys (P = .045), and each 1-mmol/L decrement in tCO(2) increased the age- and gender-adjusted HbA1c by 0.086% (P < .001). CONCLUSIONS: A high proportion of children under age 6 years present critically ill at the diagnosis of T1D. When any of the classic symptoms of diabetes or a yeast infection is present, a serum glucose level should be measured.

Blood Glucose↗
PubMed2005

Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.

The glycogen storage diseases comprise several inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. In contrast to the classic hepatic glycogen storage diseases that are characterized by fasting hypoglycemia and hepatomegaly, the liver is not enlarged in GSD0. Patients with GSD0 typically have fasting ketotic hypoglycemia without prominent muscle symptoms. Most children are cognitively and developmentally normal. Short stature and osteopenia are common features, but other long-term complications, common in other types of GSD, have not been reported in GSD0. Until recently, the definitive diagnosis of GSD0 depended on the demonstration of decreased hepatic glycogen on a liver biopsy. The need for an invasive procedure may be one reason that this condition has been infrequently diagnosed. Mutation analysis of the GYS2 gene (12p12.2) is a non-invasive method for making this diagnosis in patients suspected to have this disorder. This mini-review discusses the pathophysiology of this disorder, use of mutation analysis to diagnose GSD0, and the clinical characteristics of all reported cases of GSD0.

Child↗
PubMed2005

Diabetic ketoacidosis in children.

Although diabetic ketoacidosis should, theoretically, be largely preventable in patients with established diabetes, a recent report from a major US childhood diabetes center showed that children with type 1 diabetes remain at high risk for diabetic ketoacidosis, with an incidence of 8 per 100 patient-years. Children who are uninsured or underinsured, have psychiatric disorders, have poorly controlled diabetes, and live in dysfunctional families are most vulnerable. The efficacy and cost effectiveness of strategies to reduce the incidence of diabetic ketoacidosis-before diagnosis and in patients with established diabetes-are important issues for future investigation.

Child↗
PubMed2005

Perioperative management of pediatric surgical patients with diabetes mellitus.

UNLABELLED: Pediatric patients with diabetes are managed with increasingly complex regimens. To optimally manage these patients during the perioperative period, pediatric anesthesiologists must carefully consider the pathophysiology of the disease, patient-specific methods of treatment, status of glycemic control, and the type of surgery proposed. Important pediatric issues, including body size, pubertal development, and ability to tolerate nil per os status, must be considered. To keep pace with the array of options for treating diabetes in children, the perioperative plan should be developed in consultation with a pediatric endocrinologist. We present an algorithm that was developed at Children's Hospital Boston for the management of pediatric patients with either type 1 or type 2 diabetes mellitus presenting for surgery and general anesthesia. This collaborative effort between the pediatric anesthesia and endocrine services represents one example of a standardized approach to these patients that should facilitate care and improve management. Differences from previously published recommendations are highlighted, as are expected changes caused by the continued evolution of pediatric diabetes care. IMPLICATIONS: The evolution of diabetes care for children has made the management of perioperative blood glucose levels a greater challenge for pediatric anesthesiologists. A standardized algorithm for the perioperative management of pediatric patients with type 1 or type 2 diabetes mellitus os presented.

Child↗
PubMed2005

Sexual development in a 21 month-old boy caused by testosterone contamination of a topical hydrocortisone cream.

Sexual development, including enlargement of the penis, growth acceleration, and growth of pubic hair without an increase in the size of his testes, occurred in a 21 month-old boy over a period of several months. The sexual development was caused by dermal exposure to a hydrocortisone cream, prescribed for eczema, which was contaminated by testosterone. After use of the cream was discontinued, sexual development ceased.

Administration, Topical↗
PubMed2005

Effect of low-dose insulin treatment on body weight and physical development in children and adolescents at risk for type 1 diabetes.

OBJECTIVE: Insulin's role in body weight regulation is controversial. We evaluated the effect of parenteral insulin on body weight and physical development in children and adolescents at risk for type 1 diabetes. RESEARCH DESIGN AND METHODS: We performed a secondary analysis of the parenteral arm of the Diabetes Prevention Trial-Type 1 Diabetes (DPT-1), a randomized controlled trial of low-dose parenteral insulin (human ultralente insulin at 0.25 units x kg(-1) x day(-1)) in subjects with a >50% 5-year risk of diabetes. Analysis was limited to 100 subjects (55 intervention, 45 closely monitored) aged <19 years at randomization whose weight was followed for at least 2 years by study end after excluding subjects who were noncompliant within 2 years or developed diabetes within 36 months of randomization. RESULTS: Subjects ranged in age from 4.07 to 18.98 years. There were no significant differences at randomization between subjects in each group with respect to sex, age, weight, height, BMI, Tanner stage, or glucose tolerance. We found no differences over 2 years between the intervention and closely monitored groups in the change in weight (median 6.8 vs. 6.0 kg, P = 0.65), height (median 10.7 vs. 10.1 cm, P = 0.66), BMI (median 0.9 vs. 1.0 kg/m2, P = 0.79), or Tanner stage (median 0 vs. 0, P = 0.35). Multiple regression showed no effect of insulin on change in weight (P = 0.53) or BMI (P = 0.95) over 2 years after adjustment for relevant covariates. CONCLUSIONS: Low-dose insulin treatment for 2 years did not affect the weight, BMI, or physical development of nondiabetic children and adolescents.

Adolescent↗
PubMed2004

Perioperative management of diabetes insipidus in children [corrected].

Managing children with diabetes insipidus (DI) in the perioperative period is complicated and frequently associated with electrolyte imbalance compounded by over- or underhydration. In this study the authors developed and prospectively evaluated a multidisciplinary approach to the perioperative management of DI with a comparison to 19 historical control children. Eighteen children either with preoperative DI or undergoing neurosurgical operations associated with a high risk for developing postoperative DI were identified and managed using a standardized protocol. In all patients in whom DI occurred during or after surgery, a continuous intravenous infusion of aqueous vasopressin was initiated and titrated until antidiuresis was established. Intravenous fluids were given as normal saline and restricted to two thirds of the estimated maintenance rate plus amounts necessary to replace blood losses and maintain hemodynamic stability. In all children managed in this fashion, perioperative serum sodium concentrations were generally maintained between 130 and 150 mEq/L, and no adverse consequences of this therapy developed. In the 24-hour period evaluated, the mean change in serum sodium concentrations between the historical controls was 17.6 +/- 9.2 mEq/L versus 8.36 +/- 6.43 mEq/L in those children managed by the protocol. Hyponatremia occurred less frequently in the children managed with this protocol compared with historical controls.

Adolescent↗
PubMed2004

Perioperative management of diabetes insipidus in children.

Managing children with diabetes insipidus (DI) in the perioperative period is complicated and frequently associated with electrolyte imbalance compounded by over- or underhydration. In this study the authors developed and prospectively evaluated a multidisciplinary approach to the perioperative management of DI with a comparison to 19 historical control children. Eighteen children either with preoperative DI or undergoing neurosurgical operations associated with a high risk for developing postoperative DI were identified and managed using a standardized protocol. In all patients in whom DI occurred during or after surgery, a continuous intravenous infusion of aqueous vasopressin was initiated and titrated until antidiuresis was established. Intravenous fluids were given as normal saline and restricted to two thirds of the estimated maintenance rate plus amounts necessary to replace blood losses and maintain hemodynamic stability. In all children managed in this fashion, perioperative serum sodium concentrations were generally maintained between 130 and 150 mEq/L, and no adverse consequences of this therapy developed. In the 24-hour period evaluated, the mean change in serum sodium concentrations between the historical controls was 17.6 +/- 9.2 mEq/L versus 8.36 +/- 6.43 mEq/L in those children managed by the protocol. Hyponatremia occurred less frequently in the children managed with this protocol compared with historical controls.

Adolescent↗
PubMed2002

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease.

UNLABELLED: To evaluate the effects of uncooked cornstarch (UCS) on metabolic control, growth, and complications of pubertal and postpubertal subjects with type 1a glycogen storage disease, we studied 26 subjects (16 males), mean age 20.8+/-5.1 years, in whom continuous glucose therapy with cornstarch began at 6.8+/-4.3 years. At the time of this analysis, subjects had received cornstarch for 14.1+/-3.5 years. Metabolic control was determined with subjects receiving their usual home dietary regimens: 4.1+/-1.3 doses of UCS in the day (9.7+/-2.6 g/h) and 2.0+/-0.4 doses at night (11.7+/-2.2 g/h). Mean height standard deviation score (SDS) was -1.2+/-1.3, significantly less than the mean target height of -0.2+/-1.1 ( P<0.01). Mean weight SDS was 0.5+/-1.9 and body mass index SDS was 0.7+/-1.0. Of all subjects, 50% had at least one focal hepatic lesion consistent with an adenoma. Urinary albumin excretion was increased (>20 micro g/min) in 31% of subjects; two subjects had clinical albuminuria (>300 mg per 24 h), but none has progressed to chronic renal insufficiency. Of 26 subjects, 13 (50%) had anemia. All of the complications were associated with evidence of suboptimal metabolic control, whereas subjects with no evidence of any long-term complications had near normal blood lactate and total CO(2) concentrations. CONCLUSION: The achievement of optimal biochemical control of glycogen storage disease type 1a continues to be a challenge, but is attainable by meticulous adherence to an individualized dietary regimen based on the results of periodic metabolic evaluation and home blood glucose monitoring. Minimizing the metabolic abnormalities of the disease may decrease the risk of long-term complications.

Adenoma↗
PubMed2002

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease.

The anemia of chronic disease is a prevalent, poorly understood condition that afflicts patients with a wide variety of diseases, including infections, malignancies, and rheumatologic disorders. It is characterized by a blunted erythropoietin response by erythroid precursors, decreased red blood cell survival, and a defect in iron absorption and macrophage iron retention, which interrupts iron delivery to erythroid precursor cells. We noted that patients with large hepatic adenomas had severe iron refractory anemia similar to that observed in anemia of chronic disease. This anemia resolved spontaneously after adenoma resection or liver transplantation. We investigated the role of the adenomas in the pathogenesis of the anemia and found that they produce inappropriately high levels of hepcidin mRNA. Hepcidin is a peptide hormone that has been implicated in controlling the release of iron from cells. We conclude that hepcidin plays a major, causative role in the anemia observed in our subgroup of patients with hepatic adenomas, and we speculate that it is important in the pathogenesis of the anemia of chronic disease in general.

Adenoma, Liver Cell↗
PubMed2002

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.

Child↗