Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience.

Newborn screening for inborn errors of metabolism in mainland china: 30 years of experience.

JIMD Rep. 2012; 6: 79-83
Shi XT, Cai J, Wang YY, Tu WJ, Wang WP, Gong LM, Wang DW, Ye YT, Fang SG, Jing PW

The history of the Newborn Screening Program in Mainland China begins in 1981, when a pilot plan was developed that demonstrated the feasibility of its implementation. It has so far focused on the detection of congenital hypothyroidism (CH) and phenylketonuria (PKU) to prevent or reduce mental and physical developmental retardation in children. Throughout this period, a total of 35,795,550 dried blood samples (DBS) of newborns (NB) have been analyzed for PKU, and 35,715,988 for CH. During this period, 3,082 cases with PKU have been diagnosed, resulting in an incidence of 1 case per 11,614 (95% confidence interval 11,218-12,039) live births. In relation to CH, 17,556 cases have been confirmed, arriving at an incidence of 1 case per 2,034(95% confidence interval 2,005-2,065) live births. The biggest challenge for universal newborn screening is still to increase coverage to mid-western area. In Mainland China, MS/MS newborn screening started in 2004. In a pilot study, 371,942 neonates were screened, and 98 cases were detected with one of the metabolic disorders, and the collective estimated prevalence amounted to 1 in 3795 (95% confidence interval 3,168-4,732) live births, with a sensitivity of 98.99%, a specificity of 99.83%, and a positive predictive value of 13.57%. The most important is to get the government’s policy and financial support for expanded screening. HubMed – rehab


Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases.

JIMD Rep. 2012 Dec 29;
Lewis FM, Coman DJ, Syrmis M, Kilcoyne S, Murdoch BE

Educational achievement, which for individuals with the metabolic disorder classic galactosemia (GAL) is significantly lower than in the wider population, correlates with self-reported quality of life. Phonological awareness skills underpin the development of literacy, and although literacy is a key contributor to successful academic outcomes, no study to date has investigated phonological awareness skills in children with GAL. This study investigated phonological awareness (PA) in four school-aged children with the disorder, two of whom were siblings. Age range for the children was 7 years 7 months to 9 years 2 months. Each child was assessed with the Phonological Awareness criterion-referenced subtest from the Clinical Evaluation of Language Fundamentals-Fourth Edition. Included in the data for analysis was each child’s performance measures obtained from their most recent assessment of cognitive and lexical development. A number of descriptive analyses were undertaken on the data. One child, who met her age criterion for PA, had cognitive and lexical development skills in the average range. The remaining three children failed to meet their age criteria. Although these three children presented with clinically similar cognitive and lexical development skills, disparate PA skills were identified. The PA skills of one of the sibling pair were notably more advanced than his older sibling. The limitations of relying on behavioural test results in children with GAL to predict those most at risk of reduced skill development are discussed in terms future research directions. HubMed – rehab


The effect of integrated cardiac rehabilitation versus treatment as usual for atrial fibrillation patients treated with ablation: the randomised CopenHeartRFA trial protocol.

BMJ Open. 2013; 3(2):
Risom SS, Zwisler AD, Rasmussen TB, Sibilitz KL, Svendsen JH, Gluud C, Hansen JL, Winkel P, Thygesen LC, Perhonen M, Hansen J, Dunbar SB, Berg SK

INTRODUCTION: Atrial fibrillation affects almost 2% of the population in the Western world. To preserve sinus rhythm, ablation is undertaken in symptomatic patients. Observational studies show that patients with atrial fibrillation often report a low quality of life and are less prone to be physically active due to fear of triggering fibrillation. Small trials indicate that exercise training has a positive effect on exercise capacity and mental health, and both patients with recurrent atrial fibrillation and in sinus rhythm may benefit from rehabilitation in managing life after ablation. No randomised trials have been published on cardiac rehabilitation for atrial fibrillation patients treated with ablation that includes exercise and psychoeducational components. AIM: To test the effects of an integrated cardiac rehabilitation programme versus treatment as usual for patients with atrial fibrillation treated with ablation. METHODS AND ANALYSIS DESIGN: The trial is a multicentre parallel arm design with 1:1 randomisation to the intervention and control group with blinded outcome assessment. 210 patients treated for atrial fibrillation with radiofrequency ablation will be included. The intervention consists of a rehabilitation programme including four psychoeducative consultations with a specially trained nurse and 12 weeks of individualised exercise training, plus the standard medical follow-up. Patients in the control group will receive the standard medical follow-up. The primary outcome measure is exercise capacity measured by the VO(2) peak. The secondary outcome measure is self-rated mental health measured by the Short Form 36 questionnaire. Postintervention, qualitative interviews will be conducted in 10% of the intervention group. ETHICS AND DISSEMINATION: The protocol is approved by the regional research ethics committee (number H-1-2011-135), the Danish Data Protection Agency (reg. nr. 2007-58-0015) and follows the latest version of the Declaration of Helsinki. The results will be published in peer-reviewed journals and may possibly impact on rehabilitation guidelines. TRIAL REGISTRATION: identifier: NCT01523145. HubMed – rehab


Deep circumflex iliac artery flap with osseointegrated implants for reconstruction of mandibular benign lesions: clinical experience of 33 cases.

Ir J Med Sci. 2013 Feb 21;
Qu X, Zhang C, Yang W, Wang M

BACKGROUND: A variety of free flaps have been successfully used for mandible reconstruction. The iliac crest has similar dimensions and form to the lateral mandible. The success rate and complication rate of deep circumflex iliac artery flap transplants had no significant difference to those of other microvascular bone transplants. AIMS: The purpose of this study was to evaluate our experience with the use of the vascularized free iliac flap for the reconstruction of mandibular defects following surgical resection. METHODS: Data from 33 patients who underwent operations, including segmental mandibulectomy, immediate mandibular reconstruction and second-stage surgery, were retrospectively analysed. The size of segmental mandible defects ranged from 6 to 13 cm. Surgicase for cranio-maxillofacial reconstruction software was used for patients with mandible defects greater than 10 cm. RESULTS: One flap loss occurred related to vascular thrombosis. The survival rate was 96.97 %, and the mean follow-up was 26 months. A total of 81 osseointegrated dental implants were placed in 25 patients with adequate outcomes; 21 patients (63.64 %) showed complete recovery, and in 18 out of these 21 patients, occlusion rehabilitation with fixed dentures benefitted from an appropriate distance between upper teeth and new alveolar bone. Donor-site morbidity was moderate, and most of the patients were satisfied with their functional and aesthetic results. CONCLUSIONS: Our results show that deep circumflex iliac artery is a reliable method for reconstructing hemimandibular body defects with an acceptably low rate of morbidity. The iliac crest is a safe foundation for the placement of osseointegrated implants, which enable good reconstruction and further improve life quality of patients. HubMed – rehab