Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report

Christopoulos, Athanasios; Ligoudistianou, Christina; Bethanis, Panagiotis; Gazouli, Maria

doi:10.1093/jscr/rjy151

Cited by 4 publications

(1 citation statement)

References 9 publications

(8 reference statements)

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“…A 23-year-old female with PS had a successful reconstruction of breast by increasing the density of adipose derived stem cells following two local injections of autologous fat cells (81). Lately, a 28-year-old-male with severely affected right chest due to PS had restoration of pectoral area with injections of adipose-derived mesenchymal stem cells and fat transfer (82). The proposed mechanisms involved in the role of stem cell transfer include adipose derived stem cells contributing to neoangiogenesis in the acute phase by functioning as endothelial progenitor cells or as angiogenicfactor-releasing cells.…”

Section: Surgical Intervention and Reconstructionmentioning

confidence: 99%

A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

Hashim¹,

Quek²,

Chandran³

2021

Transl Pediatr

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Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported.Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, "the subclavian artery supply disruption sequence" (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.

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Section: Surgical Intervention and Reconstructionmentioning

confidence: 99%

A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

Hashim¹,

Quek²,

Chandran³

2021

Transl Pediatr

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Building a sequence map of the pig pan-genome from multiple de novo assemblies and Hi-C data

Tian

et al. 2019

Sci. China Life Sci.

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Pigs (Sus scrofa) exhibit diverse phenotypes in different breeds shaped by the combined effects of various local adaptation and artificial selection. To comprehensively characterize the genetic diversity of pigs, we construct a pig pangenome by comparing genome assemblies of 11 representative pig breeds with the reference genome (Sscrofa11.1). Approximately 72.5 Mb non-redundant sequences were identified as pan-sequences which were absent from the Sscrofa11.1. On average, 41.7 kb of spurious heterozygous SNPs per individual are removed and 12.9 kb novel SNPs per individual are recovered using pan-genome as the reference for SNP calling, thereby providing enhanced resolution for genetic diversity in pigs.Homolog annotation and analysis using RNA-seq and Hi-C data indicate that these pan-sequences contain protein-coding regions and regulatory elements. These pansequences can further improve the interpretation of local 3D structure. The pangenome as well as the accompanied web-based database will serve as a primary resource for exploration of genetic diversity and promote pig breeding and biomedical research.

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Reinforcing the vascular disruption theory of the genesis of Poland’s syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects

et al. 2021

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A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland’s syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. ‘Subclavian artery supply disruption sequence’ (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland’s syndrome. This case reinforces SASDS theory associated with the genesis of Poland’s syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

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Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report

Cited by 4 publications

References 9 publications

A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment

Building a sequence map of the pig pan-genome from multiple de novo assemblies and Hi-C data

Reinforcing the vascular disruption theory of the genesis of Poland’s syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects

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