Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or phalanges.Isolated brachydactyly type E (BDE),characterized by shortened met...Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or phalanges.Isolated brachydactyly type E (BDE),characterized by shortened metacarpals and/or metatarsals,consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations.BDE is often accompanied by other anomalies that are parts of many congenital syndromes.In this study,we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature.Methods:A four-generation Chinese family was recruited in June 2016.After informed consent was obtained,venous blood was collected,and genomic DNA was extracted by standard procedures.Whole-exome sequencing was performed to screen pathogenic mutation,array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations,and quantitative real-time polymerase chain reaction (PCR),stride over breakpoint PCR (gap-PCR),and Sanger sequencing were performed to confirm the candidate variation.Results:A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this family.The deletion region encompasses 23 annotated genes,one of which is PTHLH which has been reported to be causative to the BDE.PTHLH is an important regulator of endochondral bone development.The affected individuals showed bilateral,severe,and generalized brachydactyly with short stature,pectus carinatum,and prematurely fusion of epiphyses.The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously.Conclusions:The haploinsufficiency of PTHLH might be responsible for the disease in this family.This study has expanded the knowledge on the phenotypic presentation of PTHLH variation.展开更多
Background After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair fo...Background After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair for pectus carinatum (MARPC) and compare the outcomes. Data sources Literature was reviewed on PubMed with the terms 'pectus carinatum', 'minimal access repair', 'thoracos-copy' and 'children'. Results Twelve MARPC techniques that included 13 articles and 140 patients with mean age 15.46 years met the inclusion criteria. Success rate of corrections wasn = 125, about 89% in cumulative reports, with seven articles reporting 100%. The complication rate was 39.28%. Since the pectus bar is placed over the sternum and has a large contact area, skin irritation was the most frequent morbidity (n = 20, 14.28%). However, within the complication group (n = 55), wire breakage (n = 21, 38.18%) and bar displacement (n = 10, 18.18%) were the most frequent complications. Twenty-two (15.71%) patients required a second procedure. Recurrences have been reported in four of twelve techniques. There were no lethal outcomes. Conclusions MARPC techniques are not standardized, as MIRPE are, so comparative analysis is difficult as the only common denominator is minimal access. Surgical morbidity is high in MARPC and affects > 2/3rd patients with about 15% requiring surgery for complication management.展开更多
Pectus excavatum (PE) and pectus carinatum (PC) are relatively common deformities involving the anterior chest wall, occurring in 1:1000 and 1:1500 live births, respectively. While the etiology remains an enigma, the ...Pectus excavatum (PE) and pectus carinatum (PC) are relatively common deformities involving the anterior chest wall, occurring in 1:1000 and 1:1500 live births, respectively. While the etiology remains an enigma, the association of pectus deformities with other skeletal abnormalities suggests that connective tissue disease may play a role in their pathogenesis. Clinical features of these deformities vary with severity, as determined by the Haller index and Backer ratio, but frequently include cardiac and respiratory abnormalities. Importantly, there exist profound psychosocial implications for children afflicted with these defofrmities, including but not limited to feelings of embarrassment and maladaptive social behaviors. These debilitating characteristics have prompted the development of novel medical and surgical corrective techniques. The correction of pectus deformities reduces the incidence of physiological complications secondary to chest wall malformation, while simultaneously improving body image and psychosocial development in the affected pediatric population. The Ravitch (open) and Nuss (minimally invasive) procedures remain the most frequently employed methods of pectus deformity repair, with no difference in overall complication rates, though individual complication rates vary with treatment. The Nuss procedure is associated with a higher rate of recurrence due to bar migration, hemothorax, and pneumothorax. Postoperative pain management is markedly more difficult in patients who have undergone Nuss repair. Patients undergoing the Ravitch procedure require less postoperative analgesia, but have longer operation times and a larger surgical scar. The cosmetic results of the Nuss procedure and its minimally invasive nature make it preferable to the Ravitch repair. Newer treatment modalities, including the vacuum bell, magnetic mini-mover procedure (3MP), and dynamic compression bracing (DCB) appear promising, and may ultimately provide effective methods of noninvasive repair. However, these modalities suffer from a lack of extensive published evidence, and the limited number of studies currently published fail to adequately define their long-term effectiveness.展开更多
文摘Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or phalanges.Isolated brachydactyly type E (BDE),characterized by shortened metacarpals and/or metatarsals,consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations.BDE is often accompanied by other anomalies that are parts of many congenital syndromes.In this study,we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature.Methods:A four-generation Chinese family was recruited in June 2016.After informed consent was obtained,venous blood was collected,and genomic DNA was extracted by standard procedures.Whole-exome sequencing was performed to screen pathogenic mutation,array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations,and quantitative real-time polymerase chain reaction (PCR),stride over breakpoint PCR (gap-PCR),and Sanger sequencing were performed to confirm the candidate variation.Results:A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this family.The deletion region encompasses 23 annotated genes,one of which is PTHLH which has been reported to be causative to the BDE.PTHLH is an important regulator of endochondral bone development.The affected individuals showed bilateral,severe,and generalized brachydactyly with short stature,pectus carinatum,and prematurely fusion of epiphyses.The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously.Conclusions:The haploinsufficiency of PTHLH might be responsible for the disease in this family.This study has expanded the knowledge on the phenotypic presentation of PTHLH variation.
文摘Background After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair for pectus carinatum (MARPC) and compare the outcomes. Data sources Literature was reviewed on PubMed with the terms 'pectus carinatum', 'minimal access repair', 'thoracos-copy' and 'children'. Results Twelve MARPC techniques that included 13 articles and 140 patients with mean age 15.46 years met the inclusion criteria. Success rate of corrections wasn = 125, about 89% in cumulative reports, with seven articles reporting 100%. The complication rate was 39.28%. Since the pectus bar is placed over the sternum and has a large contact area, skin irritation was the most frequent morbidity (n = 20, 14.28%). However, within the complication group (n = 55), wire breakage (n = 21, 38.18%) and bar displacement (n = 10, 18.18%) were the most frequent complications. Twenty-two (15.71%) patients required a second procedure. Recurrences have been reported in four of twelve techniques. There were no lethal outcomes. Conclusions MARPC techniques are not standardized, as MIRPE are, so comparative analysis is difficult as the only common denominator is minimal access. Surgical morbidity is high in MARPC and affects > 2/3rd patients with about 15% requiring surgery for complication management.
文摘Pectus excavatum (PE) and pectus carinatum (PC) are relatively common deformities involving the anterior chest wall, occurring in 1:1000 and 1:1500 live births, respectively. While the etiology remains an enigma, the association of pectus deformities with other skeletal abnormalities suggests that connective tissue disease may play a role in their pathogenesis. Clinical features of these deformities vary with severity, as determined by the Haller index and Backer ratio, but frequently include cardiac and respiratory abnormalities. Importantly, there exist profound psychosocial implications for children afflicted with these defofrmities, including but not limited to feelings of embarrassment and maladaptive social behaviors. These debilitating characteristics have prompted the development of novel medical and surgical corrective techniques. The correction of pectus deformities reduces the incidence of physiological complications secondary to chest wall malformation, while simultaneously improving body image and psychosocial development in the affected pediatric population. The Ravitch (open) and Nuss (minimally invasive) procedures remain the most frequently employed methods of pectus deformity repair, with no difference in overall complication rates, though individual complication rates vary with treatment. The Nuss procedure is associated with a higher rate of recurrence due to bar migration, hemothorax, and pneumothorax. Postoperative pain management is markedly more difficult in patients who have undergone Nuss repair. Patients undergoing the Ravitch procedure require less postoperative analgesia, but have longer operation times and a larger surgical scar. The cosmetic results of the Nuss procedure and its minimally invasive nature make it preferable to the Ravitch repair. Newer treatment modalities, including the vacuum bell, magnetic mini-mover procedure (3MP), and dynamic compression bracing (DCB) appear promising, and may ultimately provide effective methods of noninvasive repair. However, these modalities suffer from a lack of extensive published evidence, and the limited number of studies currently published fail to adequately define their long-term effectiveness.
