Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

We report a male infant with 22q11.2 deletion syndrome and very severe multi‐sutural craniosynostosis associated with increased intracranial pressure, marked displacement of brain structures, and extensive erosion of the skull. While uni‐ or bi‐sultural craniosynostosis is a recognized (though relatively uncommon) feature of 22q11 deletion syndrome, a severe multi‐sutural presentation of this nature has never been reported. SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis. While markedly variable expressivity is an acknowledged feature of deletion 22q11 syndrome, herein we also consider and discuss the possibility that this infant may have been additionally affected with an undiagnosed single gene disorder. © 2012 Wiley Periodicals, Inc.     

Vitamin B12 Deficiency in Infancy: The Case for Screening

The classic principles put forth by Wilson and Jungner are often applied to determine the suitability of a condition for universal newborn screening. The three cases described here portray the harmful effects of vitamin B₁₂ deficiency in infancy. The challenges and opportunities of early recognition and treatment are highlighted. Screening newborns would allow early detection and prevention of severe neurological damage in vitamin B₁₂‐deficient infants and enable diagnosis of unrecognized maternal pernicious anemia in asymptomatic mothers. However, lack of standardized methodology and screening cutoffs present challenges to the use of current tandem mass spectrometry technologies for screening.     

Anesthetic considerations in Smith-Lemli-Opitz syndrome

PURPOSE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome characterized by congenital anomalies affecting the airway, cardiorespiratory, gastrointestinal, genitourinary, and central nervous systems. The presence of these anomalies as well as the potential for muscle rigidity with or without hyperthermia present challenges to anesthesia. This report describes our institution's experience with SLOS patients undergoing anesthesia in Canada. CLINICAL FEATURES: Three patients diagnosed with SLOS at McMaster University underwent a total of five anesthetics for diagnostic imaging and surgical procedures. The age of the patients ranged from two months to four years. Four intravenous anesthetics and one balanced general anesthetic were administered. One patient was noted to have a diminished laryngoscopic view but no difficult intubations were encountered. One patient required re-intubation due to upper airway obstruction related to the surgical procedure in the postoperative period. No cardiovascular, respiratory, or temperature complications were experienced. CONCLUSION: This report describes the anesthetic management in three patients with SLOS. Although the syndrome raises a number of potential anesthetic concerns, few complications were seen. This is consistent with other cases reported in the literature, which is reviewed in this report.     

Levodopa‐carbidopa intestinal gel in advanced Parkinson's disease: Final 12‐month,open‐label results

Motor complications in Parkinson's disease (PD) are associated with long‐term oral levodopa treatment and linked to pulsatile dopaminergic stimulation. l ‐dopa‐carbidopa intestinal gel (LCIG) is delivered continuously by percutaneous endoscopic gastrojejunostomy tube (PEG‐J), which reduces l‐ dopa‐plasma–level fluctuations and can translate to reduced motor complications. We present final results of the largest international, prospective, 54‐week, open‐label LCIG study. PD patients with severe motor fluctuations (>3 h/day “off” time) despite optimized therapy received LCIG monotherapy. Additional PD medications were allowed >28 days post‐LCIG initiation. Safety was the primary endpoint measured through adverse events (AEs), device complications, and number of completers. Secondary endpoints included diary‐assessed off time, “on” time with/without troublesome dyskinesia, UPDRS, and health‐related quality‐of‐life (HRQoL) outcomes. Of 354 enrolled patients, 324 (91.5%) received PEG‐J and 272 (76.8%) completed the study. Most AEs were mild/moderate and transient; complication of device insertion (34.9%) was the most common. Twenty‐seven (7.6%) patients withdrew because of AEs. Serious AEs occurred in 105 (32.4%), most commonly complication of device insertion (6.5%). Mean daily off time decreased by 4.4 h/65.6% (P < 0.001). On time without troublesome dyskinesia increased by 4.8 h/62.9% (P < 0.001); on time with troublesome dyskinesia decreased by 0.4 h/22.5% (P = 0.023). Improvements persisted from week 4 through study completion. UPDRS and HRQoL outcomes were also improved throughout. In the advanced PD population, LCIG's safety profile consisted primarily of AEs associated with the device/procedure, l‐ dopa/carbidopa, and advanced PD. LCIG was generally well tolerated and demonstrated clinically significant improvements in motor function, daily activities, and HRQoL sustained over 54 weeks. © 2014 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.     

Pilot study of an information aid for women with a family history of breast cancer

Objective

To develop and pilot study an information aid for women with a family history of breast cancer.

Design, setting and participants

The information aid, consisting of a booklet and audiotape, was developed by a multi-disciplinary team of health care professionals, breast cancer survivors and their relatives. Women with no personal history of breast cancer, on the waiting list for a familial breast cancer clinic at either of two centres, who could read English, were eligible for the pilot study which consisted of three sets of mailed questionnaires.

Main outcome measures

The baseline questionnaires included: demographic information: the Breast Cancer and Heredity Knowledge Scale (BCHK); psychological measures (the State-Trait Anxiety Inventory [STAI], Centre for Epidemiologic Studies Depression Scale [CES-D] and an item about breast cancer worry), and an item about breast cancer risk perception. Immediately after reviewing the information aid, participants completed a satisfaction survey, the risk perception and cancer worry items and a checklist about their personal family history. The third set of questionnaires, completed 2–4 weeks after reviewing the aid, was identical to the first. Patients then attended their scheduled clinic visit and an objective hereditary breast cancer risk assessment was made by the genetic counselling team.

Results and conclusions

Of 97 eligible women who were contacted, 67 completed all three sets of questionnaires. Overall, women were very satisfied with the aid and 96% would recommend it to other women. There was a highly significant improvement in their knowledge scores after they reviewed the aid. Anxiety and depression did not change and there was a decline in breast cancer worry. Risk perception did not change significantly. Ninety per cent of women completed their personal family history checklist accurately. Several important improvements have been made in the information aid and it will now be evaluated in the community.