Microsurgery in pediatric upper limb reconstructions: An overview

Pediatric microsurgery; Brachial plexus palsy; Upper limbMicrocirugía pediátrica; Parálisis del plexo braquial; Extremidad superiorMicrocirurgia pediàtrica; Paràlisi del plexe braquial; Extremitat superiorThe use of microsurgery has spread during the last decades, making resolvable many complex defects considered hitherto inapproachable. Although the small vessel diameter in children was initially considered a technical limitation, the increase in microsurgical expertise over the past three decades allowed us to manage many pediatric conditions by means of free tissue transfers. Pediatric microsurgery has been shown to be feasible, gaining a prominent place in the treatment of children affected by limb malformations, tumors, nerve injuries, and post-traumatic defects. The aim of this current concepts review is to describe the more frequent pediatric upper limb conditions in which the use of microsurgical reconstructions should be considered in the range of treatment options

Assessment of copy number variations in 120 patients with Poland syndrome

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts

Current concepts in diagnosis and management of common upper limb nerve injuries in children

Peripheral nerve injuries (PNI) of the upper limb are a common event in the paediatric population, following both fractures and soft tissues injuries. Open injuries should in theory be easier to identify and the repair of injured structures performed as soon as possible in order to obtain a satisfying outcome. Conversely, due to the reduced compliance of younger children during clinical assessment, the diagnosis of a closed nerve injury may sometimes be delayed. As the compliance of patients is influenced by pain, anxiety and stress, the execution of the clinical manoeuvres intended to identify a loss of motor function or sensibility, can be impaired. Although the majority of PNI are neuroapraxias resulting in spontaneous recovery, there are open questions regarding certain aspects of closed PNI, e.g. when to ask for electrophysiological exams, when and how long to wait for a spontaneous recovery and when a surgical approach becomes mandatory. The aim of the article is therefore to analyse the main aspects of the different closed PNI of the upper limb in order to provide recommendations for timely and correct management, and to determine differences in the PNI treatment between children and adults

Additional file 1: of Assessment of copy number variations in 120 patients with Poland syndrome

Figure S1. Quantitative polymerase chain reaction. In the Figure, examples of qPCR results obtained from three PS patients carrying three different CNVs are shown. A) Patient PS16: primers were designed to amplify a region encompassed by the duplication (chr16:74,313,856-74,313,966) and a 5′ flanking region (chr16:73,857,457-73,857,556); B) patient PS3: primers were designed to amplify a region encompassed by the duplication (chr5:22,539,039-22,539,170) and a 5′ flanking region (chr5:21,756,984-21,757,122); C) Patient PS10: primers were designed to amplify a region encompassed by the deletion (chr11:28,126,119-28,126,268) and a 5′ flanking region (chr11:28,075,866-28,076,003). Fold change of about 1 is expected for a diploid sample, about 0.5 for a haploid sample, and about 2.0 for a triploid sample. ctr: genomic DNA from one healthy adult used as control. (TIF 1168 kb