Oral glycopyrrolate for refractory pediatric and adolescent hyperhidrosis.

Primary hyperhidrosis is a common disorder affecting children and adolescents, and it can have a significant negative psychosocial effect. Treatment for pediatric hyperhidrosis tends to be limited by low efficacy, low adherence, and poor tolerance. Oral glycopyrrolate is emerging as a potential second-line treatment option, but experience with safety, efficacy, and dosing is especially limited in children.

Do oral corticosteroids reduce the severity of acute lower respiratory tract illnesses in preschool children with recurrent wheezing?

Background: Oral corticosteroids (OCSs) are recommended for severe wheezing episodes in children. However, limited evidence supports this intervention in preschool children with outpatient wheezing illnesses.

Objective: We sought to investigate whether OCSs reduce symptom scores during acute lower respiratory tract illnesses (LRTIs) in preschool children with recurrent wheeze.

Heel-line hyperpigmentation: a variant of sock-line hyperpigmentation after the use of heel-length socks.

Two infants developed hyperpigmented curvilinear patches on the posterior heel after wearing heel-length socks. Both of the patient's lesions improved after discontinuing the use of the heel-length socks. Hyperpigmented patches called sock-line or mitten-line hyperpigmentation have been reported at sites of tight elastic bands from socks or mittens in infants on the calves and wrists.

The role of early life viral bronchiolitis in the inception of asthma.

Unlabelled: PROPOSE OF REVIEW: Cumulative evidence suggest that early life bronchiolitis is a major risk factor for subsequent wheezing episodes and asthma. The purpose of this review is to present the recent findings and current perspectives regarding the interplay between bronchiolitis and long-term respiratory outcomes.

Recent Findings: Recent studies have supported the long-recognized link between early life severe respiratory syncytial virus bronchiolitis and the physician diagnosis of asthma by school age, and this association appears to continue into early adulthood.

Scleral hemangioma: case report and response to propranolol.

Scleral infantile hemangiomas are rare. We describe a patient who presented at 3 months of age with an enlarging infantile hemangioma on the sclera of the left eye. He had two other hemangiomas on the left eyebrow and chest.

Step-down therapy in asthma: a focus on treatment options for patients receiving inhaled corticosteroids and long-acting beta-agonist combination therapy.

The management of asthma requires continual reassessment of disease activity and modification of treatment approaches based on the level of asthma control. Among patients receiving combination therapy with inhaled corticosteroids and long-acting beta-agonists (LABAs), asthma guidelines and guidance from the Food and Drug Administration recommend consideration of step-down therapy when asthma control has been achieved. This report reviews the evidence base surrounding medical decision making for patients receiving combination therapy.

GATA4 deficiency impairs ovarian function in adult mice.

Transcription factor GATA4 is expressed in granulosa cells and, to a lesser extent, in other ovarian cell types. Studies of mutant mice have shown that interactions between GATA4 and its cofactor, ZFPM2 (also termed FOG2), are required for proper development of the fetal ovary. The role of GATA4 in postnatal ovarian function, however, has remained unclear, in part because of prenatal lethality of homozygous mutations in the Gata4 gene in mice.

Effect of elevated exhaled nitric oxide levels on the risk of respiratory tract illness in preschool-aged children with moderate-to-severe intermittent wheezing.

Background: The fractional concentration of exhaled nitric oxide (FeNO) is a noninvasive marker for airway inflammation but requires further study in preschool-aged children to determine its clinical relevance.

Objective: To determine whether the risk of respiratory tract illnesses (RTIs), disease burden, and atopic features are related to FeNO in preschool-aged children with moderate-to-severe intermittent wheezing.

Methods: We determined FeNO using the off-line tidal breathing technique in 89 children, aged 12 to 59 months, with moderate-to-severe intermittent wheezing.

National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary.

Background: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for standard guidelines for laboratory confirmation of a positive newborn screen such that all babies would benefit from equal and optimal follow-up by confirmatory testing.

Episodic use of an inhaled corticosteroid or leukotriene receptor antagonist in preschool children with moderate-to-severe intermittent wheezing.

Background: Acute wheezing illnesses in preschoolers require better management strategies to reduce morbidity.

Objectives: We sought to examine the effectiveness of episodic use of an inhaled corticosteroid and a leukotriene receptor antagonist in preschoolers with intermittent wheezing.

Methods: In a randomized, double-blind, placebo-controlled 12-month trial, 238 children aged 12 to 59 months with moderate-to-severe intermittent wheezing received 7 days of either budesonide inhalation suspension (1 mg twice daily), montelukast (4 mg daily), or placebo in addition to albuterol with each identified respiratory tract illness (RTI).

Azithromycin or montelukast as inhaled corticosteroid-sparing agents in moderate-to-severe childhood asthma study.

Background: Clinical trials in children with moderate-to-severe persistent asthma are limited.

Objective: We sought to determine whether azithromycin or montelukast are inhaled corticosteroid sparing.

Methods: The budesonide dose (with salmeterol [50 microg] twice daily) necessary to achieve control was determined in children 6 to 17 years of age with moderate-to-severe persistent asthma.

Genetic disorders of surfactant proteins.

Inherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children. The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed.

Molecular genetics of congenital diaphragmatic defects.

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH.

Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation.

The pulmonary surfactant is a mixture of phospholipids and proteins synthesized, packaged, and secreted by alveolar type II cells that lowers surface tension and prevents atelectasis at end-expiration. A tightly regulated, complex metabolic cycle involves all components of the pulmonary surfactant. Disorders of surfactant metabolism that have a genetic basis are rare, but causes of respiratory dysfunction in infants and children emerge.

Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.

Congenital diaphragmatic hernia (CDH) is an often fatal birth defect that is commonly associated with pulmonary hypoplasia and cardiac malformations. Some investigators hypothesize that this constellation of defects results from genetic or environmental triggers that disrupt mesenchymal cell function in not only the primordial diaphragm but also the thoracic organs. The alternative hypothesis is that the displacement of the abdominal viscera in the chest secondarily perturbs the development of the heart and lungs.

Selectin-like kinetics and biomechanics promote rapid platelet adhesion in flow: the GPIb(alpha)-vWF tether bond.

The ability of platelets to tether to and translocate on injured vascular endothelium relies on the interaction between the platelet glycoprotein receptor Ib alpha (GPIb(alpha)) and the A1 domain of von Willebrand factor (vWF-A1). To date, limited information exists on the kinetics that govern platelet interactions with vWF in hemodynamic flow. We now report that the GPIb(alpha)-vWF-A1 tether bond displays similar kinetic attributes as the selectins including: 1) the requirement for a critical level of hydrodynamic flow to initiate adhesion, 2) short-lived tethering events at sites of vascular injury in vivo, and 3) a fast intrinsic dissociation rate constant, k(0)(off) (3.

Properties and function of pancreatic lipase related protein 2.

The lipase gene family includes pancreatic triglyceride lipase and two pancreatic proteins, pancreatic lipase related proteins 1 and 2, with strong nucleotide and amino acid sequence homology to pancreatic triglyceride lipase. All three proteins have virtually identical three-dimensional structures. Of the pancreatic triglyceride lipase homologues, only pancreatic lipase related protein 2 has lipase activity.