Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.     

The "foamy" esophagus: a radiographic sign of Candida esophagitis

OBJECTIVE: The purpose of this study was to describe the radiographic features of the "foamy" esophagus, a new sign of Candida esophagitis seen on double-contrast esophagography, in six patients. CONCLUSION: The foamy esophagus was characterized by innumerable tiny (1-3 mm), round lucencies (bubbles) that intermingled with the barium suspension along the top of the barium column, producing a layer of foam. Candida esophagitis should be strongly suspected when a foamy esophagus is detected on double-contrast esophagography, particularly in patients with underlying esophageal involvement by scleroderma.     

International consensus statement on attention-deficit/hyperactivity disorder (ADHD) and disruptive behaviour disorders (DBDs): clinical implications and treatment practice suggestions.

Researchers and clinicians worldwide share concerns that many youngsters with attention-deficit/hyperactivity disorder (ADHD) and/or disruptive behaviour disorders (DBDs) do not receive appropriate treatment despite availability of effective therapies. At the request of Johnson and Johnson (sponsor), 11 international experts in child and adolescent psychiatry were selected by Professor Stan Kutcher (chair) to address these concerns. This paper describes the experts' consensus conclusions, including treatment practice suggestions for physicians involved in the early treatment of youngsters with ADHD (or hyperkinetic disorder, in countries preferring this classification) and/or DBDs internationally: suggested first-line treatment for ADHD without comorbidity is psychostimulant medication aided by psychosocial intervention. For ADHD with comorbid conduct disorder (CD), psychosocial intervention combined with pharmacotherapy is suggested. For primary CD, suggested first-line treatment is psychosocial intervention, with pharmacotherapy considered as an 'add-on' when aggression/impulsivity is marked and persistent. Pharmacotherapy requires careful titration; full-day coverage is the suggested goal. Regular long-term follow-up is recommended.     

Pediatric Concerns Due to Expanded Cannabis Use: Unintended Consequences of Legalization

An “unintended consequence” of marijuana legalization is the impact on the pediatric population. From prenatal exposure to unintentional childhood exposures, through concerns of adolescence abuse and marijuana use for medicinal indications in children, marijuana exposure can affect pediatric patients at every stage in childhood. Regardless of the stage or reason of exposure, concerns exist about short-term and long-term consequences in a child’s physical and mental health. The use of cannabidiol (CBD) may have some benefit for the treatment of epilepsy, but emphasis needs to be on rigorous clinical trials to evaluate efficacy and safety. As more states allow both medical and recreational marijuana, availability and prevalence of use will likely increase and more surveillance and research is needed to evaluate the consequences on the pediatric population.     

Collagen matrix staple line reinforcement in gastric bypass

BackgroundStaple line leaks and bleeding, anastomotic strictures, and marginal ulcers are significant complications of Roux-en-Y gastric bypass (RYGB) for morbid obesity. Reinforcing the staple lines with bovine collagen matrix reinforcement (CMR) might safely decrease the incidence of leaks and bleeding without causing other complications. Our objective was to determine the effect in RYGB of reinforcing the linear and circular gastric staple lines with CMR on the outcomes including abdominal septic events, blood transfusions, and the incidence of stricture and marginal ulceration of the gastrojejunostomy in a private bariatric surgery practice at 2 Surgical Review Committee Center of Excellence community hospitals.MethodsWe performed a retrospective review of prospectively collected data comparing consecutive outcomes of 505 patients undergoing RYGB without CMR from 2005 to 2006 to 568 patients with CMR of the linear and circular gastric staple lines from 2007 to 2009.ResultsThe application of CMR was associated with a significant reduction from 4% to 1% in the incidence of abdominal septic events, including frank staple line leakage, purulent drainage, and abscess. The number of patients needing transfusion showed a trend downward. The frequency of stricture (1%) and marginal ulceration (2%) was unchanged. No gastrogastric fistulas were identified in either group. No evidence of migration of collagen matrix material appeared after CMR. The 90-day mortality rate for each group was .2% and was unrelated to staple line complications.ConclusionThe use of CMR was associated with a significant reduction in the incidence of abdominal septic complications and a trend toward fewer patients needing transfusion. The frequency of stricture and marginal ulceration was unchanged by the use of CMR.