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.     

Distribution of human papillomavirus among women with abnormal cervical cytology in Kuwait

This study investigates the distribution of human papillomavirus (HPV) in women with abnormal cervical cytology in Kuwait. Two hundred and ninety‐eight (298) abnormal ThinPreps were taken from women seeking routine gynecological care and screened for HPV DNA by real‐time PCR. HPV genotyping was determined by PCR‐based sequencing. HPV DNA was detected in 152 women (51%), and 29 different HPV genotypes were detected, comprising 16 high‐risk (HR) (16, 18, 31, 33, 35, 39, 45, 51, 53, 56, 58, 59, 66, 68, 73, 97), nine low‐risk (LR) (6, 11, 54, 61, 74, 81, 90, 102, 106), and four intermediate‐risk (IR) (62, 67, 84, 87). HPV16 had the highest prevalence (24.3%), followed by HPV11 (13.8%), HPV66 (11.2%), HPV33 (9.9%), HPV53 (9.2%), HPV81 (9.2%), HPV56 (7.9%) and HPV18 (6.6%). HPV prevalence was 86, 67, and 89% in women with invasive cervical carcinoma (ICC), high‐grade squamous intraepithelial lesion (HSIL) and low‐grade squamous intraepithelial lesion (LSIL), respectively. As for age distribution, 69% of all HPVs were found in women aged 20–29 years, and the HPV incidence rate deceased with increasing age. The proportion of single infections decreased as the severity of the cytological diagnosis increased, while the proportion of multiple infections increased. This study is the first of its type in Kuwait and one of few in the Middle East. The findings are consistent with the hypothesis that HPV infection is the primary cause of cervical neoplasia. They support HPV vaccine research to prevent cervical cancer and efforts to develop HPV DNA diagnostic tests. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.     

Influence of Sport Participation on Community Integration and Quality of Life: A Comparison Between Sport Participants and Non-Sport Participants With Spinal Cord Injury

Background/Objective: To determine whether community integration and/or quality of life (QoL) among people living with chronic spinal cord injury (SCI) are superior among sport participants vs non-sport participants.

Study Design: Cross-sectional study.

Participants/Methods: Persons (n = 90) living in the community with SCI (ASIA Impairment Scale A-D), level C5 or below, > 15 years of age, ≥ 12 months postinjury, and requiring a wheelchair for > 1 hours/day were divided into 2 groups based on their self-reported sport participation at interview: sport participants (n = 45) and non-sport participants (n = 45).

Results: Independent-sample t tests revealed that both Community Integration Questionnaire (CIQ) and Reintegration to Normal Living Index (RNL) total mean scores were higher among sport participants vs nonsport participants (P < 0.05). Significant correlation between CIQ and RNL total scores was found for all participants (Pearson correlation coefficients, P < 0.01). Logistic regression analysis revealed that the unadjusted odds ratio of a high CIQ mean score was 4.75 (95% Cl 1.7, 13.5) among current sport participants. Similarly, the unadjusted odds ratio of a high RNL score was 7.00 (95% Cl 2.3, 21.0) among current sport participants. Regression-adjusted odds ratios of high CIQ and high RNL scores were 1.36 (95% Cl 0.09, 1.45) and 0.15 (95% Cl 0.04, 0.55), respectively. The odds ratio for pre-SCI sport participation predicting post-SCI sport participation was 3.06 (95% Cl 1.23, 7.65).

Conclusions: CIQ and QoL scores were higher among sport participants compared to non-sport participants. There was an association between mean CIQ and RNL scores for both groups. Sport participants were 4.75 and 7.00 times as likely to have high CIQ and QoL scores. Both groups had a similar likelihood of high CIQ and RNL scores after adjusting for important confounders. Individuals who participated in sports prior to SCI were more likely to participate in sports post-SCI.     

Pulse Wave Velocity for Assessment of Arterial Stiffness Among People With Spinal Cord Injury: A Pilot Study

Background/Objective: The most significant complication and leading cause of death for people with spinal cord injury (SCI) is coronary artery disease (CAD). It has been confirmed that aortic pulse wave velocity (PVW) is an emerging CAD predictor among able-bodied individuals. No prior study has described PWV values among people with SCI. The objective of this study was to compare aortic (the common carotid to femoral artery) PWV, arm (the brachial to radial artery) PVW, and leg (the femoral to posterior tibial artery) PVW in people with SCI (SCI group) to able-bodied controls (non-SCI group).

Methods: Participants included 12 men with SCI and 9 non-SCI controls matched for age, sex, height, and weight. Participants with a history of CAD or current metabolic syndrome were excluded. Aortic, arm, and leg PVW was measured using the echo Doppler method.

Results: Aortic PVW (mean ± SD) in the SCI group (1,274 ± 369 cm/s) was significantly higher (P < 0.05) than in the non-SCI group (948 ± 110 cm/s). There were no significant between-group differences in mean arm PVW (SCI: 1,152 ± 193 cm/s, non-SCI: 1,237 ± 193 cm/s) or mean leg PVW (SCI: 1,096 ± 1 73 cm/s, non-SCI: 994 ±178 cm/s) values.

Conclusions: Aortic PVW was higher among the SCI group compared with the non-SCI group. The higher mean aortic PVW values among the SCI group compared with the non-SCI group indicated a higher risk of CAD among people with SCI in the absence of metabolic syndrome.     

Therapeutic prospects for Parkinson disease

Dopaminergic therapies such as levodopa have provided benefit for millions of patients with Parkinson's disease (PD) and revolutionized the treatment of this disorder. However patients continue to experience disability despite the best of modern treatment. Dopaminergic and surgical therapies are associated with potentially serious side effects. Non‐motor and non‐dopaminergic features such as freezing, falling, and dementia are not adequately controlled with available medications and represent the major source of disability for advanced patients. And, the disease continues to relentlessly progress. Major therapeutic unmet needs include a dopaminergic therapy that is not associated with serious side effects, a therapy that addresses the non‐motor and non‐dopaminergic features of the disease, and a disease‐modifying therapy that slows or stops disease progression. This review will consider current attempts to address these issues and the obstacles that must be overcome in order to develop more effective therapies for PD. Ann Neurol 2013;74:337–347