Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.

A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single-nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q-PCR) analysis were used as diagnostic tests. SNP array revealed a maternal deletion at 16q24.1, encompassing the cleft candidate gene USP10. WES revealed an additional de novo Loss-of-Function variant (p.(Asn838fs)) in the Zinc-Finger-Homeobox-4 (ZFHX4) gene. Q-PCR was performed to explore the effect of the ZFHX4 variant and the deletion in 16q24.1. The mRNA expression of a selection of putative target genes involved in orofacial clefting showed a lowered expression of USP10 (52%), CRISPLD2 (31%), and CRISPLD1 (1%) compared to the control. IRF6 showed no difference in gene expression. This case supports ZFHX4 as a novel cleft gene and suggests USP10 may contribute to the etiology of orofacial clefts in humans.

Long-term functional outcome of patients with longitudinal radial deficiency: cross-sectional evaluation of function, activity and participation.

PURPOSE: To evaluate all functional aspects of patients with longitudinal radial dysplasia and to clarify the relationship between body functions on the one hand and limitations in activity and participation on the other hand. METHODS: Thirty-one arms of seventeen adult patients with longitudinal radial dysplasia were analysed. Body function was assessed by measuring grip and pinch strength and active range of motion (ROM) of the hand. Activities were measured using the "Sequential Occupational Dexterity Assessment ", to measure perceived restrictions in participation the "Impact on Participation and Autonomy questionnaire" was used. Relationships between severity of dysplasia, body function, participation and activity were determined. RESULTS: Patients with a severe type scored significantly lower in body function scores than patients with a mild form. Patients with limited active finger joint motion performed worse on activities. We found no significant differences in activity and participation between mild or severe types and found no correlation in participation scores. CONCLUSION: Although considerable restrictions in joint mobility and strength were revealed, little or no limitations on the activity and participation level were found. Limitations in body functions hardly influenced capacity on activity level and did not influence participation in societal roles.

Complications after body contouring surgery in post-bariatric patients: the importance of a stable weight close to normal.

OBJECTIVE: Body contouring surgery is in high demand following the increase in bariatric surgery. Massive weight loss leads to an excess of lax, overstretched skin causing physical and psychosocial discomfort. Plastic surgical procedures can give rise to an improvement in quality of life, but the relative high complication rate could negatively affect these potential gains. The purpose of this study is to identify predictors of complications in order to optimize outcomes in this patient population. METHODS: Out of a group of 465 post-bariatric patients, 61 patients underwent body contouring surgery following massive weight loss. A total of 43 respondents were reviewed retrospectively for demographic data, pre- and post-operative weight status and co-morbidities. Medical complications were categorized according to the modified Clavien classification. All cases were analyzed for risk factors. RESULTS: A stable weight over a period of at least 3 months prior to body contouring surgery is associated with a significant lower complication rate (odds ratio 0.24; CI 0.07-0.79) and the percentage excess weight loss (odds ratio 0.96; 95% CI 0.92-1.00) was an independent predictor for the occurrence of complications. The overall complication rate was 27.9% with a major complication rate of 8.8%. Most frequent procedures were abdominoplasty (61%) and breast reduction/ mammapexy (25%). CONCLUSION: This study emphasizes the importance to strive for a stable weight close to normal before surgery to minimize the risk of complications. The positive effects of the long-term results of bariatric surgery tolerate the relative high complications rate. Careful pre-operative planning and patient selection are essential to optimize the results of body contouring surgery of post-bariatric patients.

One century of Kirschner wires and Kirschner wire insertion techniques: a historical review.

A century ago, in 1909, Martin Kirschner (1879-1942) introduced a smooth pin, presently known as the Kirschner wire (K-wire). The K-wire was initially used for skeletal traction and is now currently used for many different goals. The development of the K-wire and its insertion devices were mainly influenced by the change in operative goals and by the introduction of antibiotics. The first versions of the Kirschner wire were hammered through a predrilled hole into the bone, but later on drilling became the standard technique of insertion. Drilling is considered a simple way of implanting, with many advantages, such as percutaneous and atraumatic insertion. However, this technique also has its disadvantages like temperature elevation, resulting in osteonecrosis and heat-related complications. Despite these complications the K-wire is now standard for the treatment of hand fractures, worldwide.