Medical management of tumors associated with Kasabach-Merritt phenomenon: an expert survey.

Kasabach-Merritt phenomenon (KMP) is a rare consumptive coagulopathy characterized by profound thrombocytopenia and hypofibrinogenemia occurring in association with the vascular tumors kaposiform hemangioendothelioma (KHE) and tufted angioma (TA). Treatment remains challenging without consensus on the optimal medical management. The authors compiled expert opinions regarding management to establish treatment recommendations.

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M.

Ulcerative lesions as a rare cause of laryngotracheitis in the pediatric population.

Objective: The goal of this study is to describe a unique finding of ulcerative lesions of the larynx in two pediatric patients presenting with prolonged acute laryngotracheitis and compare to previously described reports to determine the typical clinical picture, need for intervention, and management model.

Methods: We present two cases of ulcerative lesions of the larynx in immunocompetent children, one with PCR positive HSV, which presented as severe croup requiring intensive care unit admission. Literature review was completed to assess for current knowledge of this entity.

Hydronephrosis: a view from the inside.

Unilateral ureteropelvic junction obstruction (UPJO) is the most common prenatally detected disease leading to hydronephrosis. The obstructive anatomic lesion leads to varying degrees of hydronephrosis, ranging from no apparent effect on renal function to atrophy. Furthermore, the natural course of hydronephrosis varies from spontaneous resolution to progressive deterioration and may take upwards of 3 years for a kidney to declare itself.

Analysis of FOXD3 sequence variation in human ocular disease.

Purpose: The migratory neural crest cell population makes a significant contribution to the anterior segment structures of the eye. Consequently, several anterior segment dysgenesis phenotypes are associated with mutations in genes expressed during neural crest development. The forkhead box D3 (FOXD3) gene encodes a forkhead transcription factor that plays an important role in neural crest specification in vertebrates and therefore may be involved in human eye disease.

Genital prolapse causing urinary obstruction and hydronephrosis in a neonate: a case and review of the literature.

Neonatal genital prolapse is a rare condition seen early in life, often in conjunction with spinal cord anomalies. We present a case of a 38-week gestational age female in whom urinary obstruction and bilateral hydronephrosis resulted from genital prolapse. We suggest that although a serious urologic outcome can potentially result from this condition, cure for both can be achieved swiftly and without major complications.

pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2(ex4/5) splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain.

Genetics of anterior segment dysgenesis disorders.

Purpose Of Review: Anterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are generally associated with an approximate 50% risk for glaucoma. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. This article summarizes what is known about the genetics of ASD disorders and reviews recent developments.

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.

The PITX3 bicoid-type homeodomain transcription factor plays an important role in lens development in vertebrates. PITX3 deficiency results in a spectrum of phenotypes from isolated cataracts to microphthalmia in humans, and lens degeneration in mice and zebrafish. While identification of downstream targets of PITX3 is vital for understanding the mechanisms of normal ocular development and human disease, these targets remain largely unknown.

Aqueductal stenosis presenting as isolated tremor: case report and review of the literature.

Essential tremor is rare in children, particularly in the absence of a significant family history. We report the case of a child with compensated hydrocephalus secondary to aqueductal stenosis whose sole presenting symptom was tremor. An otherwise healthy 6-year-old male developed a fine hand tremor, which over the course of 4 years both increased in intensity and spread to involve the lower limbs and head.

The type of responder T-cell has a significant impact in a human in vitro suppression assay.

Background: In type 1 diabetes (T1D), a prototypic autoimmune disease, effector T cells destroy beta cells. Normally, CD4(+)CD25(+high), or natural regulatory T cells (Tregs), counter this assault. In autoimmunity, the failure to suppress CD4(+)CD25(low) T cells is important for disease development.

Evaluation of Spectra VRE, a new chromogenic agar medium designed to screen for vancomycin-resistant Enterococcus faecalis and Enterococcus faecium.

Spectra VRE (Remel, Lenexa, KS) is a chromogenic medium designed to recover and differentiate vancomycin-resistant Enterococcus faecium and Enterococcus faecalis (VRE). This medium was compared to bile esculin azide agar (BEAV) and was 98.2% sensitive and 99.

Candidate urinary biomarker discovery in ureteropelvic junction obstruction: a proteomic approach.

Purpose: Ureteropelvic junction obstruction may either worsen and require surgery, improve or remain stable. It may take upward of 3 years for the natural history to unfold. Urinary proteome analysis using capillary electrophoresis mass spectrometry has been shown to differentiate between normal infants and those with ureteropelvic junction obstruction.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

The OTX2 homeobox-containing transcription factor gene was shown to play a key role in the development of head structures in vertebrates. In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies. We screened 52 unrelated individuals affected with A/M and identified disease-causing variants in four families (8%), a higher frequency than previously reported.

Efficacy of felbamate in the treatment of intractable pediatric epilepsy.

The antiepileptic drug felbamate has demonstrated efficacy against a variety of seizure types in the pediatric population, particularly seizures associated with Lennox-Gastaut syndrome. Postmarketing experience, however, revealed serious idiosyncratic adverse effects not observed during clinical trials, including aplastic anemia and liver failure. As a result, many physicians have been hesitant to prescribe felbamate.

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.

Purpose: The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles in the development of both the posterior and anterior segment structures of the eye and relies on interactions with tissue-specific partner proteins to execute its function, raising the possibility that SOX2 mutations may result in varying ocular phenotypes. Recent data has identified a missense mutation in SOX2 in an extended pedigree with phenotypes as varied as A/M, isolated iris hypoplasia, iris and chorioretinal coloboma, pupil defects, and hypermetropia, suggesting a broader phenotypic spectrum associated with SOX2 mutations.

FOXE3 plays a significant role in autosomal recessive microphthalmia.

FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3-deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia.

Neurologic manifestations of varicella zoster virus infections.

Varicella zoster virus (VZV) causes acute viral exanthema in childhood, becomes latent, and can reactivate years later to produce neurologic disease. Primary VZV infection is associated with acute cerebellitis and stroke, particularly in childhood. VZV reactivation may result in neuropathy, myelitis, stroke, and encephalitis, the latter two syndromes the result of small and large vessel vasculopathy.

Making the case to improve quality and reduce costs in pediatric health care.

This article makes a case for the urgent need to improve health care quality and reduce costs. It provides an overview of the importance of the quality movement and the definition of quality, including the concept of clinical and operational quality. Some national drivers for quality improvement as well as drivers of escalating health care costs are discussed, along with the urgency of reducing health care costs.

Thrombolytics for hyperacute stroke in children.

Intravenous tissue plasminogen activator (tPA) has changed the landscape of acute stroke care in adults, but remains unstudied in children. Developmental differences in both stroke etiologies and the hematologic system may alter the risk benefit ratio of this drug when applied to stroke in children.