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Romanian Journal of Morphology and... 2009Omphalocele and gastroschisis are recognized as congenital malformations with a high mortality. Only 60% of children with such malformations survive until the end of the...
Omphalocele and gastroschisis are recognized as congenital malformations with a high mortality. Only 60% of children with such malformations survive until the end of the first year of age. It has been suggested that omphalocele and gastroschisis are associated with other congenital malformations, concerning the bones, the heart and the kidney. The aim of the present study is to determine the risk factors in 12 omphalocele and four gastroschisis cases diagnosed and surveyed in the last four years (November 2003-November 2007) at the Emergency County Hospital of Constanta. In 10 of the 16 cases of the studied group, the subjects resulted from spontaneous premature births. None of the cases in the studied group received the maximum APGAR score, values varying between 6 and 9. The average birth weight in the studied group is 2100 g, with values between 950 g and 2900 g. Maternal age is between 15-21-year-old. Average maternal age in cases of second-degree gastroschisis is 6.5 years younger than the witness population and in case of first degree is 5.8 years younger. 87.5% of children's mothers in studied group are first time pregnant, first time gestant. The mother's socio-economic status may be a risk factor on the occurrence of omphalocele and gastroschisis. 81.25% of children's mother in the studied group have no own income and half are single (mono-parental families). None of the studied cases had a history of congenitally malformed siblings, but half of the cases in the studied group associate congenital malformations of gastro-intestinal tract, locomotor system, kidneys and/or heart. The abdominal wall defect existing in gastroschisis is accompanied by the delay of the intestinal loops differentiation. In all cases of gastroschisis in the studied group, the thin intestine caliber is higher or equal to the one of the thick intestine, the intestinal loops remained outside the abdominal cavity have an aspect characteristic to the fifth month of fetal life.
Topics: Abnormalities, Multiple; Adolescent; Apgar Score; Female; Gastrointestinal Tract; Gastroschisis; Heart Defects, Congenital; Hernia, Umbilical; Humans; Infant, Newborn; Kidney; Male; Maternal Age; Pregnancy; Premature Birth; Risk Factors; Romania; Single Parent; Social Class; Young Adult
PubMed: 19942960
DOI: No ID Found -
JNMA; Journal of the Nepal Medical... Apr 2023Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate...
UNLABELLED
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology of this complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosis and appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy is considered. We present a 4-day first twin child with underdeveloped ambiguous genitalia delivered via emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containing omphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary artery hypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done.
KEYWORDS
anorectal malformations; bladder exstrophy; case reports; neural tube defects; umbilicus.
Topics: Child; Animals; Humans; Pregnancy; Female; Anus, Imperforate; Hernia, Umbilical; Cloaca; Cesarean Section; Abnormalities, Multiple; Bladder Exstrophy
PubMed: 37208890
DOI: 10.31729/jnma.8048 -
Journal of Epidemiology and Community... Dec 1982Information on liveborn and stillborn children with gastroschisis and omphalocele was collected from hospital and register sources in Finland from 1970 to 1979. The... (Comparative Study)
Comparative Study
Information on liveborn and stillborn children with gastroschisis and omphalocele was collected from hospital and register sources in Finland from 1970 to 1979. The apparent prevalence of gastroschisis at birth increased from 0.77/10 000 births in 1970-4 to 1.42/10 000 in 1975-9. The prevalence of omphalocele (1.96/10 000) was unchanged during the decade. Even for gastroschisis the apparent increase in prevalence was noted for northern Finland only, while for southern Finland the prevalence has been stable during the 1970s, possibly suggesting diagnostic or reporting differences between various parts of the country. Some correlates of increased risk of gastroschisis included: low birth weight, low maternal age, urban residence, and maternal employment in commercial and sales work.
Topics: Abdominal Muscles; Adult; Birth Weight; Female; Finland; Hernia, Umbilical; Humans; Infant, Newborn; Male; Maternal Age; Occupations; Parity; Seasons; Sex Factors
PubMed: 6220103
DOI: 10.1136/jech.36.4.289 -
PloS One 2017Platelet-derived growth factor receptor alpha (PDGFRα) is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of...
BACKGROUND
Platelet-derived growth factor receptor alpha (PDGFRα) is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spina bifida, rib deformities, and omphalocele in mice. However, it is not clear if deletion of Pdgfra at different embryonic stages differentially affects these structures.
PURPOSE
To address the temporal requirement of Pdgfra in embryonic development.
METHODS
We have deleted the Pdgfra in Pdgfra-expressing tissues at different embryonic stages in mice, examined and quantified the developmental anomalies.
RESULTS
Current study showed that (i) conditional deletion of Pdgfra at different embryonic days (between E7.5 and E10.5) resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele, and (ii) the day of Pdgfra deletion influenced the combinations, incidence and severities of these anomalies. Deletion of Pdgfra caused apoptosis of Pdgfra-expressing tissues, and developmental defects of their derivatives.
CONCLUSION
Orofacial cleft, spina bifida and omphalocele are among the commonest skeletal and abdominal wall defects of newborns, but their genetic etiologies are largely unknown. The remarkable resemblance of our conditional Pdgfra knockout embryos to theses human congenital anomalies, suggesting that dysregulated PDGFRA expression could cause these anomalies in human. Future work should aim at defining (a) the regulatory elements for the expression of the human PDGFRA during embryonic development, and (b) if mutations / sequence variations of these regulatory elements cause these anomalies.
Topics: Abdominal Wall; Abnormalities, Multiple; Animals; Apoptosis; Cleft Lip; Cleft Palate; Embryonic Development; Gene Expression Regulation, Developmental; Gene Knockout Techniques; Hernia, Umbilical; Immunohistochemistry; In Situ Nick-End Labeling; Mice, Inbred C57BL; Mice, Transgenic; Receptor, Platelet-Derived Growth Factor alpha; Skeleton; Spinal Dysraphism; Tamoxifen; Time Factors
PubMed: 28934221
DOI: 10.1371/journal.pone.0184473 -
BMC Medical Education Dec 2023Congenital Anomalies were responsible for 303,000 deaths in the neonatal period, according to the WHO, they are among the world's top 20 causes of morbidity and...
BACKGROUND
Congenital Anomalies were responsible for 303,000 deaths in the neonatal period, according to the WHO, they are among the world's top 20 causes of morbidity and mortality. Expensive simulators demonstrate several diseases, but few are related to congenital anomalies. This study aims to develop, validate, and evaluate low-cost simulator models (WALL-GO) of the most common abdominal wall defects, gastroschisis, and omphalocele, to enable diagnosis through an accessible tool with study value and amenable to replication.
METHODS
Market research was conducted to find materials to build low-cost models. The researchers built the model and underwent validation assessment of the selected experts who scored five or more in the adapted Fehring criteria. The experts were assessed through a 5-point Likert scale to 7 statements (S1-7). Statements were assigned values according to relevance in face and transfer validities. Concomitantly, the model was also evaluated by students from 1st to 5th year with the same instruments. Content Validity Indexes (CVIs) were considered validated between groups with concordance greater than 90%. Text feedback was also collected. Each statement was subjected to Fisher's Exact Test.
RESULTS
Gastroschisis and omphalocele model costs were US $15 and US $27, respectively. In total, there were 105 simulator evaluators. 15 experts were selected. Of the 90 students, there were 16 (1st year), 22 (2nd), 16 (3rd), 22 (4th), and 14 (5th). Students and experts obtained CVI = 96.4% and 94.6%, respectively. The CVIs of each statement were not significantly different between groups (p < 0,05).
CONCLUSIONS
The WALL-GO models are suitable for use and replicable at a manufacturable low cost. Mannequins with abdominal wall defects are helpful in learning to diagnose and can be applied in teaching and training health professionals in developing and low-income countries.
Topics: Infant, Newborn; Humans; Gastroschisis; Hernia, Umbilical; Abdominal Wall; Education, Medical, Undergraduate; Learning
PubMed: 38102605
DOI: 10.1186/s12909-023-04929-3 -
Journal of Pediatric Surgery Jul 2009Long-term outcome and quality of life in omphalocele (OC) studies are mainly focused on cosmetic disorders with the abdominal scar and gastrointestinal disorders. The... (Comparative Study)
Comparative Study
PURPOSE
Long-term outcome and quality of life in omphalocele (OC) studies are mainly focused on cosmetic disorders with the abdominal scar and gastrointestinal disorders. The aim of this study was to compare long-term mortality, morbidity, and quality of life between patients with minor and giant OCs.
METHODS
Records of 89 minor and 22 giant OC children were reviewed. A questionnaire on general health was sent to all patients. A second questionnaire concerning quality of life and functional status; Darthmouth COOP Functional Health Assessment Charts/WONCA (COOP/WONCA) was sent to all patients aged 18 years or older and a peer control group.
RESULTS
Of the surviving patients (69 minor OC, 20 giant OC), 12 were lost to hospital follow-up. The first questionnaire was returned by 64 (83%) of 77 patients. There were no significant differences in gastrointestinal disorders. Cosmetic problems were experienced significantly more in giant OC. The results of the COOP/WONCA charts indicated a good to very good quality of life in both groups comparable to the control group.
CONCLUSIONS
Our study indicates that after a high level of medical intervention perinatally, quality of life is good to very good in both groups and comparable to healthy young adults.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Hernia, Umbilical; Humans; Infant; Length of Stay; Male; Patient Readmission; Quality of Life; Retrospective Studies; Surveys and Questionnaires; Time Factors; Treatment Outcome; Young Adult
PubMed: 19573661
DOI: 10.1016/j.jpedsurg.2008.11.034 -
Ugeskrift For Laeger Apr 2022Patients with cirrhosis undergoing emergency umbilical hernia repair have increased risk of fatal complications. Of all patients with cirrhosis and umbilical hernia, 43%... (Review)
Review
Patients with cirrhosis undergoing emergency umbilical hernia repair have increased risk of fatal complications. Of all patients with cirrhosis and umbilical hernia, 43% undergo emergency hernia repair, and thus the feasibility of elective procedures in this patient group was examined. This review found that medical and wound-related complications were the most frequent after umbilical hernia repair in patients with cirrhosis. Accordingly, additional evidence is needed to evaluate methods allowing for elective umbilical hernia repair in patients with cirrhosis.
Topics: Elective Surgical Procedures; Hernia, Umbilical; Herniorrhaphy; Humans; Liver Cirrhosis
PubMed: 35485796
DOI: No ID Found -
Hernia : the Journal of Hernias and... Aug 2019Mesh fixation and broad overlap represent an open issue in umbilical hernia repair. A proprietary-designed implant with tentacle straps at its boundary has been...
PURPOSE
Mesh fixation and broad overlap represent an open issue in umbilical hernia repair. A proprietary-designed implant with tentacle straps at its boundary has been developed to ensure a suture-free repair and a broader coverage of the abdominal wall. The study describes the results of umbilical hernia procedures carried out with the tentacle-shaped implant and the related surgical technique.
METHODS
A proprietary tentacle-shaped flat mesh having a central body with integrated radiating arms at its edge was used to repair large umbilical hernias in 62 patients. The implant was placed in preperitoneal sublay. The friction of the straps, crossing the abdominal wall thanks to a special needle passer, was intended to assure adequate grip to hold the implant in place assuring a fixation-free procedure and broad overlap of the hernia defect.
RESULTS
In a mean follow-up of 48 months (range 10-62 months), 4 seromas and 2 ischemia of the navel skin occurred. No infections, hematomas, chronic pain, mesh dislocation, or recurrence has been reported.
CONCLUSIONS
The tentacle strap system of the prosthesis effectively ensured an easier implant placement avoiding the need for suturing the mesh. The arms of the implant ensured a proper orientation and stabilization of the mesh in association with a broad defect overlap. The specifically developed surgical procedure showed a quick postoperative recovery, a very low complication rate, and no recurrences even in the long term.
Topics: Abdominal Wall; Adult; Aged; Female; Hernia, Umbilical; Herniorrhaphy; Humans; Male; Middle Aged; Prostheses and Implants; Prosthesis Implantation; Recurrence; Surgical Mesh; Suture Techniques; Umbilicus
PubMed: 30980199
DOI: 10.1007/s10029-019-01950-8 -
CMAJ : Canadian Medical Association... Oct 2003
Review
Topics: Female; Gastroschisis; Hernia, Umbilical; Humans; Infant, Newborn; Pregnancy; Ultrasonography, Prenatal
PubMed: 14557321
DOI: No ID Found -
Disease Models & Mechanisms Oct 2018Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in...
Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes and showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW. fetuses exhibited a large omphalocele with protrusion of both the liver and intestine, or a small omphalocele with protrusion of the intestine, with complete penetrance. The umbilical ring of embryos was shifted anteriorly and its lateral size was larger than that of normal embryos at the E11.5 stage, before the onset of myoblast migration into the PAW. The proliferation rates of surface ectodermal cells in the left and right PAW and somatic mesoderm-derived cells in the right PAW were lower in embryos than those of wild-type embryos at E10.5. The transition from CECs of the PAW to rounded mesothelial progenitor cells was impaired and the inner coelomic surface of the PAW was relatively smooth in embryos at E11.25. Furthermore, overexpression in CECs of the PAW promoted ingression of CECs. Taken together, our results suggest that and are required for growth and morphological change of the PAW, and the impairment of these processes is linked to the abnormal positioning and expansion of the umbilical ring, which results in omphalocele.
Topics: Abdominal Wall; Animals; Cell Proliferation; Embryo, Mammalian; Hernia, Umbilical; Homeodomain Proteins; Humans; Mesoderm; Mice, Inbred C57BL; Mice, Knockout; Models, Biological; Muscles; Stem Cells; Trans-Activators
PubMed: 30237319
DOI: 10.1242/dmm.034611