The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform
Vorasuk Shotelersuk - One of the best experts on this subject based on the ideXlab platform.
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PTPRF is disrupted in a patient with syndromic Amastia.
BMC medical genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral Amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences.
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PTPRF is disrupted in a patient with syndromic Amastia
BMC Medical Genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral Amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences. Methods Characterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F gene ( PTPRF ). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF 's RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic Amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
Richard J. Ehrlichman - One of the best experts on this subject based on the ideXlab platform.
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855 Reconstruction of Severe Burns to the Breast in Pediatric Patients: A Ten-year Experience
Journal of Burn Care & Research, 2020Co-Authors: Farzin Sadeq, Ryan Cauley, Matthew A Depamphilis, Daniel N. Driscoll, Richard J. EhrlichmanAbstract:Abstract Introduction The breast and anterior chest are the most commonly burned part of the trunk. Burn injuries to the breast can be associated with pain, asymmetries, and significant social stigma. Burns to the breast bud in the young female may inhibit normal breast development, and result in either significant asymmetries or Amastia, making the treatment of breast burn injuries challenging. Methods A retrospective chart review was conducted on all female patients under the age of 21 years admitted to our institution for breast burn injuries from January 1st 2008 – December 30th 2018.This project was undertaken at our institution as an exempt project under 45 CFR 46.101 and, as such, it was not formally supervised by an Institutional Review Board. Patients were included if they had follow-up reconstructive procedures for breast burn injuries many days after their acute phase treatment. Results Ninety-six patients aged 1 to 20 years have been admitted to our institution with burned breast injuries. The mean age of this cohort (n=96) was 6.4 ±4.8 years with a mean percent TBSA of 36.3 ±21.4 and a mean time since injury from admission of 2279.1 ±2284.1 days. Flame burns (66.8%) were the most common etiology for breast burn injuries, followed by scald burns (22.8%), in this cohort. The mean body mass index was 22.7 ±6.3 kg/m2. Follow up for reconstructive procedures was 7.2 ±5.6 years after injury date. Conclusions Our institution’s ten-year experience of 96 female patients with severe burn injuries has enhanced our understanding of reconstructive techniques. The location, size, anatomic extent, type of deformity, and symmetry must all be assessed before any treatment plans, which may need to include a combination of modalities. Applicability of Research to Practice Most importantly, surgeons must preserve viable breast bud tissue during debridement. Scar contractures should be released once there are signs of breast development, and the scar contracture significantly impairs normal breast development. Treatment of these contractures with a combination of release and grafting, local flaps or tissue expansion can reduce breast asymmetry. Reduction mammoplasty may be used safely in burned female patients with minimal risks, if key principles are followed.
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Reconstruction of Severe Burns to the Breast in Pediatric Patients: A 10-Year Experience.
Journal of burn care & research : official publication of the American Burn Association, 2020Co-Authors: Farzin Sadeq, Ryan Cauley, Matthew A Depamphilis, Daniel N. Driscoll, Richard J. EhrlichmanAbstract:The breast and anterior chest are the most commonly burned part of the trunk. Burn injuries to the breast can be associated with pain, asymmetries, and significant social stigma. Burns to the breast bud in the young female may inhibit normal breast development and result in either significant asymmetries or Amastia, making the treatment of breast burn injuries challenging. A retrospective chart review was conducted on all female patients under the age of 21 years admitted to our institution for breast burn injuries from January 1, 2008 to December 30, 2018. Patients were included if they had follow-up reconstructive procedures for breast burn injuries many days after their acute-phase treatment. Ninety-six patients aged 1 to 20 years have been admitted to our institution with burned breast injuries. The mean age of this cohort (n = 96) was 6.4 ± 4.8 years with a mean percent TBSA of 36.3 ± 21.4 and a mean time since injury from admission of 2279.1 ± 2284.1 days. Flame burns (66.8 percent) were the most common etiology for breast burn injuries, followed by scald burns (22.8 percent), in this cohort. The mean body mass index was 22.7 ± 6.3 kg/m2. Follow-up for reconstructive procedures was 7.2 ± 5.6 years after injury date. Our institution's 10-year experience of 96 female patients with severe burn injuries has enhanced our understanding of reconstructive techniques. The location, size, anatomic extent, type of deformity, and symmetry must all be assessed before any treatment plans, which may need to include a combination of modalities.
K.c. Das - One of the best experts on this subject based on the ideXlab platform.
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A Rare Case Report: Poland's Syndrome with Unilateral Amastia in an alleged victim of Rape
Journal of Indian Academy of Forensic Medicine, 2010Co-Authors: Kalpasree Bhowmik, Nibedita Shyam, K.c. DasAbstract:We report a rare case on Poland's syndrome with unilateral Amastia in an alleged victim of rape who was brought to our department escorted by the police for Medical examination. Congenital absence of breast is an unusual anomaly of the breast. As such, anomalies of breast are rare. Amastia is the total absence of breast tissue. Poland's syndrome is one such rare syndrome associated with Amastia. Poland's syndrome is not a single entity but is a constellation of anomalies.
John Foley - One of the best experts on this subject based on the ideXlab platform.
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Homozygous truncating PTPRF mutation causes athelia
Human Genetics, 2014Co-Authors: Guntram Borck, Liat Vries, Pola Smirin-yosef, Gudrun Nürnberg, Irina Lagovsky, Luis Henrique Ishida, Patrick Thierry, Dagmar Wieczorek, Peter Nürnberg, John FoleyAbstract:Athelia is a very rare entity that is defined by the absence of the nipple–areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp–ear–nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell–cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with Amastia, our results indicate a key role for PTPRF in the development of the nipple–areola region.
Surasawadee Ausavarat - One of the best experts on this subject based on the ideXlab platform.
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PTPRF is disrupted in a patient with syndromic Amastia.
BMC medical genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral Amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences.
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PTPRF is disrupted in a patient with syndromic Amastia
BMC Medical Genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral Amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences. Methods Characterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F gene ( PTPRF ). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF 's RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic Amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
