scholarly journals Two Infants with Beckwith-Wiedemann Syndrome

2010 ◽  
Vol 13 (1) ◽  
pp. 49-53
Author(s):  
I Ratbi ◽  
S Elalaoui ◽  
A Sefiani
Keyword(s):  
Abdominal Wall ◽  
Chromosomal Region ◽  
Genetic Disorder ◽  
Abdominal Wall Defects ◽  
Developmental Abnormalities ◽  
Unrelated Male

Two Infants with Beckwith-Wiedemann SyndromeBeckwith-Wiedemann syndrome (BWS; OMIM 130650) is an overgrowth disorder characterized by macrosomia, macroglossia, organomegaly and developmental abnormalities (in particular abdominal wall defects with exomphalos) and a multi genetic disorder caused by dysregulation of genes expressed in the imprinted 11p15 chromosomal region. We report two unrelated male Moroccan firstborn infants who were hospitalized for macroglossia with breathing difficulties associated with other malformations indicative of BWS.

Articulation in Beckwith-Wiedemann Syndrome: Two Case Studies

2000 ◽  
Vol 9 (3) ◽  
pp. 202-213 ◽  
Author(s):  
John Van Borsel ◽  
Bieke Morlion ◽  
Kathleen Van Snick ◽  
Jules S. Leroy
Keyword(s):  
Abdominal Wall ◽  
Case Studies ◽  
Genetic Disorder ◽  
Exact Nature ◽  
Abdominal Wall Defects ◽  
Error Patterns ◽  
Place Of Articulation ◽  
Modes Of Presentation ◽  
Few Data

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with abdominal wall defects, gigantism, and macroglossia as its main characteristics. A number of investigators have reported the presence of articulation errors in individuals with BWS due to macroglossia. However, few data are available on the exact nature of the articulation problems of subjects with BWS. This paper presents two case studies that highlight the articulatory characteristics associated with BWS. Subjects were a boy aged 5 years 9 months and a girl aged 3 years 6 months. A phonetic analysis was conducted in which it was found that primarily consonants with an anterior place of articulation were affected. The error patterns appeared to be related to inappropriate tongue and lip postures. An observer experiment in which naive and expert observers rated speech samples from three modes of presentation (auditory-only, visual-only, and audiovisual) showed that the subjects’ speech was more disturbed visually than auditorily.

scholarly journals Kagami-Ogata Syndrome: Case Series and Review of Literature

2021 ◽  
Vol 11 (02) ◽  
pp. e65-e75
Author(s):  
Rishika P. Sakaria ◽  
Roya Mostafavi ◽  
Stephen Miller ◽  
Jewell C. Ward ◽  
Eniko K. Pivnick ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Case Series ◽  
Facial Features ◽  
Molecular Testing ◽  
Abdominal Wall Defects ◽  
Review Of Literature ◽  
Imprinting Disorder ◽  
Genetic Imprinting ◽  
Chest X Ray ◽  
Unrelated Male

AbstractKagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

Lipoabdominoplasty in correction of abdominal wall defects

2018 ◽  
Vol 0 (4) ◽  
pp. 13-17
Author(s):  
O. V. Panchuk ◽  
V. G. Mishalov ◽  
I. M. Leschishin ◽  
V. F. Simonov ◽  
E. G. Donets ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Abdominal Wall Defects

Negative Pressure Therapy in the Surgical Treatment of Diabetic Foot

2017 ◽  
Vol 68 (7) ◽  
pp. 1648-1651
Author(s):  
Bogdan Mihnea Ciuntu ◽  
Ciprian Vasiluta ◽  
Robert Negru ◽  
Roxana Hultoana ◽  
Roxana Ciuntu ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Negative Pressure ◽  
Diabetic Foot ◽  
Bacterial Load ◽  
Abdominal Wall Defects ◽  
Negative Pressure Therapy ◽  
Simultaneous Application ◽  
Average Hospital ◽  
Pressure Therapy ◽  
Days Of Therapy

The study aims to assess the significance of negative pressure therapy in the treatment of diabetic foot.The objectives intend to evaluate the healing time required after applying the method and the functional consequences for the patient. A prospective study was conducted on a sample of 37 patients with diabetic foot were monitored their clinical course between September 2014 - April 2017, following negative pressure therapy. There were used vacuum assisted closure devices (VAC � -Hartman) in order to apply negative pressure to the wound, while complying with specified settings (negative pressure, time of use of a kit) in accordance with patients� outcome.There were monitored changes in wound size (planimetric and volumetric measurement), their bacterial load and duration of treatment. Healing was obtained in all cases, to an average hospital stay of 27.3 days and 8 days of therapy application.The negative result of microbial cultures was obtained after an average of 6.45 days by simultaneous application of negative pressure and antibiotic treatment according to the antibiogram. Skin grafts were necessary to close the defect in 4 cases. After basic treatment of the wound, auxiliary methods such as negative pressure contribute to the healing.In patients with diabetic foot who were required surgical intervention, the use of negative pressure therapy yielded a significant benefit in the preservation of the affected limb, after minimal excision.The results we obtained throughout our experience recommend use of NPTW technique as indication for abdominal wall surgery in closing abdominal wall defects, compartment syndrome and surgical site infection after prosthetic mesh.

Current postnatal outcomes of infants with abdominal wall defects

2008 ◽  
Vol 84 ◽  
pp. S112
Author(s):  
Olivia Williams ◽  
Benedicte Michel ◽  
Graham Hutchings ◽  
Pierre Bernard ◽  
Christian Debauche
Keyword(s):  
Abdominal Wall ◽  
Abdominal Wall Defects

scholarly journals Accuracy of estimated fetal weight assessment in fetuses with abdominal wall defects

2021 ◽  
pp. 100385
Author(s):  
Laura C. HA ◽  
Amanda CRAIG ◽  
Matthew R. GRACE ◽  
Sarah S. OSMUNDSON ◽  
Emily W. TAYLOR ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Fetal Weight ◽  
Abdominal Wall Defects ◽  
Estimated Fetal Weight

Abdominal wall defects: pathogenesis, prevention and repair

2021 ◽  
Vol 39 (2) ◽  
pp. 81-90
Author(s):  
Paul Mackenzie ◽  
William Maclean ◽  
Timothy Rockall
Keyword(s):  
Abdominal Wall ◽  
Abdominal Wall Defects

scholarly journals Antibacterial Biopolymer Gel Coating on Meshes Used for Abdominal Hernia Repair Promotes Effective Wound Repair in the Presence of Infection

Polymers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 2371
Author(s):  
Selma Benito-Martínez ◽  
Bárbara Pérez-Köhler ◽  
Marta Rodríguez ◽  
Francisca García-Moreno ◽  
Verónica Gómez-Gil ◽  
...  
Keyword(s):  
Hernia Repair ◽  
Protein Expression ◽  
Mrna Expression ◽  
Abdominal Wall ◽  
Tissue Repair ◽  
Abdominal Hernia ◽  
Infection Model ◽  
Abdominal Wall Defects ◽  
Abdominal Hernia Repair ◽  
Gene And Protein Expression

Prosthetic mesh infection is a devastating complication of abdominal hernia repair which impairs natural healing in the implant area, leading to increased rates of patient morbidity, mortality, and prolonged hospitalization. This preclinical study was designed to assess the effects on abdominal wall tissue repair of coating meshes with a chlorhexidine or rifampicin-carboxymethylcellulose biopolymer gel in a Staphylococcus aureus (S. aureus) infection model. Partial abdominal wall defects were created in New Zealand white rabbits (n = 20). Four study groups were established according to whether the meshes were coated or not with each of the antibacterial gels. Three groups were inoculated with S. aureus and finally repaired with lightweight polypropylene mesh. Fourteen days after surgery, implanted meshes were recovered for analysis of the gene and protein expression of collagens, macrophage phenotypes, and mRNA expression of vascular endothelial growth factor (VEGF) and matrix metalloproteinases (MMPs). Compared to uncoated meshes, those coated with either biopolymer gel showed higher collagen 1/3 messenger RNA and collagen I protein expression, relatively increased VEGF mRNA expression, a significantly reduced macrophage response, and lower relative amounts of MMPs mRNAs. Our findings suggest that following mesh implant these coatings may help improving abdominal wall tissue repair in the presence of infection.

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