The Experts below are selected from a list of 1938 Experts worldwide ranked by ideXlab platform
William T. Gunning - One of the best experts on this subject based on the ideXlab platform.
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A Case Report of in Utero Williams Syndrome Arterial Malformation.
Fetal and pediatric pathology, 2017Co-Authors: Andrew John Kobalka, Robert E. Mrak, William T. GunningAbstract:INTRODUCTION Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth Muscle Malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS. Aortic tissue from the patient was compared with non-WS fetal aorta of similar gestational age using EM and light microscopy. Both sections were taken from the proximal aortic root. This demonstrated internal elastic lamina disruption, malformed elastic fibers, smooth Muscle proliferation and abnormal collagen fibers, consistent with adult WS phenotype. CONCLUSION Our analysis indicated the cardiovascular changes of WS in a fetus as young as 34 weeks.
Andrew John Kobalka - One of the best experts on this subject based on the ideXlab platform.
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A Case Report of in Utero Williams Syndrome Arterial Malformation.
Fetal and pediatric pathology, 2017Co-Authors: Andrew John Kobalka, Robert E. Mrak, William T. GunningAbstract:INTRODUCTION Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth Muscle Malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS. Aortic tissue from the patient was compared with non-WS fetal aorta of similar gestational age using EM and light microscopy. Both sections were taken from the proximal aortic root. This demonstrated internal elastic lamina disruption, malformed elastic fibers, smooth Muscle proliferation and abnormal collagen fibers, consistent with adult WS phenotype. CONCLUSION Our analysis indicated the cardiovascular changes of WS in a fetus as young as 34 weeks.
Gilvani Azor Oliveira E Cruz - One of the best experts on this subject based on the ideXlab platform.
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Poland’s Syndrome: Different Clinical Presentations and Surgical Reconstructions in 18 Cases
Aesthetic Plastic Surgery, 2007Co-Authors: Renato Da Silva Freitas, André Ricardo Dall’oglio Tolazzi, Vanessa Dello Mônaco Martins, Breno Albuquerque Knop, Ruth Maria Graf, Gilvani Azor Oliveira E CruzAbstract:Background The literature reports many variations of Poland’s syndrome. This article describes 18 cases of Poland’s syndrome in different stages of treatment, with variable clinical presentations and reconstructive techniques. Methods This study evaluated 15 females and 3 males, ages 2 to 43 years, for breast deformity, nipple–areolar complex position, pectoralis Muscle Malformation, thoracic deformities, and the presence of brachysyndactyly. Surgical treatment was performed for 14 patients, individualized for each case. Results For the women, the hypoplastic breast was treated with a latissimus dorsi muscular flap associated with silicone gel implant in five cases. Two other patients still are receiving tissue expansion for a future muscular and prosthetic reconstruction. Prosthetic implants alone were used on the affected side in four cases. The nipple–areolar complex was reconstructed for two patients. Seven women underwent contralateral breast surgery: reduction mammoplasty in three cases, mastopexy in two cases, and prosthetic implants in two cases. The only man who underwent surgery was treated with endoscopic rotation of the latissimus dorsi Muscle flap. Conclusions This study demonstrated several breast reconstruction options for patients with Poland’s syndrome, reinforcing the importance of an individualized treatment to achieve complete and adequate rehabilitation.
Robert E. Mrak - One of the best experts on this subject based on the ideXlab platform.
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A Case Report of in Utero Williams Syndrome Arterial Malformation.
Fetal and pediatric pathology, 2017Co-Authors: Andrew John Kobalka, Robert E. Mrak, William T. GunningAbstract:INTRODUCTION Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth Muscle Malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS. Aortic tissue from the patient was compared with non-WS fetal aorta of similar gestational age using EM and light microscopy. Both sections were taken from the proximal aortic root. This demonstrated internal elastic lamina disruption, malformed elastic fibers, smooth Muscle proliferation and abnormal collagen fibers, consistent with adult WS phenotype. CONCLUSION Our analysis indicated the cardiovascular changes of WS in a fetus as young as 34 weeks.
Renato Da Silva Freitas - One of the best experts on this subject based on the ideXlab platform.
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Poland’s Syndrome: Different Clinical Presentations and Surgical Reconstructions in 18 Cases
Aesthetic Plastic Surgery, 2007Co-Authors: Renato Da Silva Freitas, André Ricardo Dall’oglio Tolazzi, Vanessa Dello Mônaco Martins, Breno Albuquerque Knop, Ruth Maria Graf, Gilvani Azor Oliveira E CruzAbstract:Background The literature reports many variations of Poland’s syndrome. This article describes 18 cases of Poland’s syndrome in different stages of treatment, with variable clinical presentations and reconstructive techniques. Methods This study evaluated 15 females and 3 males, ages 2 to 43 years, for breast deformity, nipple–areolar complex position, pectoralis Muscle Malformation, thoracic deformities, and the presence of brachysyndactyly. Surgical treatment was performed for 14 patients, individualized for each case. Results For the women, the hypoplastic breast was treated with a latissimus dorsi muscular flap associated with silicone gel implant in five cases. Two other patients still are receiving tissue expansion for a future muscular and prosthetic reconstruction. Prosthetic implants alone were used on the affected side in four cases. The nipple–areolar complex was reconstructed for two patients. Seven women underwent contralateral breast surgery: reduction mammoplasty in three cases, mastopexy in two cases, and prosthetic implants in two cases. The only man who underwent surgery was treated with endoscopic rotation of the latissimus dorsi Muscle flap. Conclusions This study demonstrated several breast reconstruction options for patients with Poland’s syndrome, reinforcing the importance of an individualized treatment to achieve complete and adequate rehabilitation.
