Propranolol therapy for hemangiomas in infants with neonatal abstinence syndrome may produce intolerable side effects.

We report three infants with infantile hemangioma who experienced severe agitation and diarrhea following propranolol administration. Propranolol, a non-selective ß-adrenergic receptor blocker, is the first-line treatment for infantile hemangiomas. All three infants were exposed to opioids in utero and experienced neonatal abstinence syndrome at birth. We hypothesize that chronic opioid exposure in utero may cause protracted upregulation of ß2-adrenergic receptors in the central nervous system, resulting in increased susceptibility to adverse reactions to propranolol.

The PEET procedure: Punch Excision of Epithelialized Tracts for gastrocutaneous fistula closure.

BACKGROUND: Persistent Gastrocutaneous Fistula (GCF) is common problem encountered in the pediatric population. Several management options for intervening on pediatric persistent GCF have been described and range from open surgical management to medical management. Here we describe a novel adaptation on a previously described technique that utilizes a punch biopsy to excise the GCF we have coined as Punch Excision of Epithelialized Tracts (PEET). METHODS: The steps to this procedure include passing a punch biopsy tool over a Foley catheter. The catheter is inserted into the GCF tract, the balloon is inflated, the catheter is retracted against the abdominal wall, and the punch biopsy instrument is pushed through the skin and subcutaneous tissue circumferentially excising the tract. RESULTS: Four patients at our institution have undergone GCF excision using the PEET approach. Mean duration of the GCF in our four patients was 9 months. Mean follow-up after GCF excision using the PEET approach was 7.8 months. No patients in the cohort had any post-operative complications including surgical site wound infection, emergency department visits, or re-hospitalizations related to their surgical care. CONCLUSION: Based on our preliminary findings in this small patient cohort, we believe the PEET approach for managing persistent pediatric GCF has short-term efficacy and has the potential upside of utilizing fewer hospital resources to perform the procedure in a time-efficient manner.

The "SHIFT" technique: Suprahepatic IntraFalciform tubing for placement of ventriculoperitoneal shunts.

Ventriculoperitoneal (VP) shunts in pediatric patients are an important aspect of management for patients with hydrocephalus and are fraught with complications. Surgical revision rates for VP shunts in the pediatric population are currently high, which necessitates innovation in operative techniques for placing VP shunts in attempt to decrease complication risks. Here we describe a novel approach for placement of VP shunts that we hypothesize can reduce potential morbidity among pediatric patients. By utilizing the falciform ligament of the liver and the suprahepatic recess to suspend and maintain the shunt, outcomes may portend fewer iatrogenic intra-abdominal injuries, enhanced ease of shunt removal, provide a large surface area for absorption of drained cerebrospinal fluid, and result in fewer adhesions secondary to device placement. We are referring to the operative technique as the "SupraHepatic IntraFalciform Tubing" (SHIFT) technique. In summary, the SHIFT shunt is fashioned by creating a window through the falciform ligament, inserting the shunt, and placing tubing in the suprahepatic recess.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.