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Cureus May 2020Umbilical hernia is a common cause for patient presentation to the surgeon, often on a nonemergent basis for a bulge at or lateral to the umbilicus but occasionally...
Umbilical hernia is a common cause for patient presentation to the surgeon, often on a nonemergent basis for a bulge at or lateral to the umbilicus but occasionally under emergency circumstances for pain or bowel obstruction when the hernia contents become incarcerated or strangulated. Risk factors for umbilical hernia include female gender, obesity, and ascites. A defect in the abdominal wall fascia at the umbilicus allows the preperitoneal adipose tissue, omentum, or small or large bowel to protrude through the defect. Rarely described is herniation of the appendix through an umbilical hernia, though appendix-containing femoral hernia (de Garengeot hernia) and appendix-containing inguinal hernia (Amyand hernia) are more common. There are 10 available case reports in the medical literature that describe an appendix-containing umbilical hernia; in this case report, we present the 11th case report of appendicitis within an umbilical hernia.
PubMed: 32542130
DOI: 10.7759/cureus.8075 -
Urology Feb 2023To examine the prenatal diagnosis rates of bladder exstrophy (BE) and Omphalocele-Exstrophy-Imperforate anus-Spinal Defect Syndrome (OEIS) in a large cohort of patients...
OBJECTIVE
To examine the prenatal diagnosis rates of bladder exstrophy (BE) and Omphalocele-Exstrophy-Imperforate anus-Spinal Defect Syndrome (OEIS) in a large cohort of patients over a 20-year period. We hypothesized that prenatal diagnosis rates improved over time due to evolving techniques in fetal imaging.
METHODS
A multi-institutional database was queried to identify BE or OEIS patients who underwent primary closure between 2000 and 2020. We retrospectively determined prenatal or postnatal diagnosis. Those with unknown prenatal history were excluded. Multivariable logistic regression was used to investigate temporal pattern in rate of prenatal diagnosis while adjusting for sex and treating institution.
RESULTS
Among 197 BE and 52 OEIS patients, 155 BE and 45 OEIS patients had known prenatal history. Overall prenatal diagnosis rates of BE and OEIS were 47.1% (73/155) and 82.2% (37/45), respectively. Prenatal diagnosis rate was significantly lower in BE compared to OEIS (P <.0001). The prenatal diagnosis rate for BE significantly increased over time (OR 1.10; [95%CI: 1.03-1.17]; P = .003). Between 2000 and 2005, the prenatal diagnosis rate of BE was 30.3% (10/33). Between 2015 and 2020, prenatal diagnosis rate of BE was 61.1% (33/54). Prenatal diagnosis rate for OEIS did not change over time. Rates of prenatal diagnosis did not differ by sex or treating institution.
CONCLUSION
Rates of prenatal diagnosis of BE and OEIS are higher than previously reported. Prenatal diagnosis rate of BE doubled in the last 5 years compared to the first 5 years of the study period. Nonetheless, a significant proportion of both BE and OEIS patients remain undiagnosed prior to delivery.
Topics: Pregnancy; Female; Humans; Bladder Exstrophy; Retrospective Studies; Abnormalities, Multiple; Prenatal Diagnosis; Hernia, Umbilical; Syndrome
PubMed: 36460061
DOI: 10.1016/j.urology.2022.11.020 -
American Journal of Human Genetics Oct 2023Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We...
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder.
Topics: Adult; Humans; Male; Animals; Mice; Hernias, Diaphragmatic, Congenital; Actins; Mutation, Missense; Osteoporosis
PubMed: 37751738
DOI: 10.1016/j.ajhg.2023.09.002 -
World Journal of Pediatrics : WJP Jul 2022
Topics: Humans; Gastroschisis; Hernia, Umbilical; Prevalence; United States
PubMed: 35294711
DOI: 10.1007/s12519-022-00544-2 -
European Journal of Pediatric Surgery... Jan 2023Both congenital diaphragmatic hernias (CDHs) and omphaloceles show relevant overall mortality rates as individual findings. The combination of the two has been described...
Both congenital diaphragmatic hernias (CDHs) and omphaloceles show relevant overall mortality rates as individual findings. The combination of the two has been described only sparsely in the literature and almost always with a fatal course. Here, we describe a term neonate with a rare high-risk constellation of left-sided CDH and a large omphalocele who was successfully treated on extracorporeal life support (ECLS). Prenatally, the patient was diagnosed with a large omphalocele and a left CDH with a lung volume of ∼27% and an observed to expected lung-to-head ratio of 30%. Due to respiratory insufficiency, an ECLS device was implanted. As weaning from ECLS was not foreseeable, the female infant underwent successful surgery on ECLS on the ninth day of life. Perioperative high-frequency oscillatory ventilation and circulatory and coagulation management under point-of-care monitoring were the main anesthesiological challenges. Over the following 3 days, ECLS weaning was successful, and the patient was extubated after another 43 days. Surgical treatment on ECLS can expand the spectrum of therapy in high-risk constellations if potential risks are minimized and there is close interdisciplinary cooperation.
PubMed: 37051184
DOI: 10.1055/s-0043-1767734 -
Cureus Jun 2023The presence of a Meckel's diverticulum in the hernial sac is called a Littre's hernia. It is a rare complication of Meckel's diverticulum. We present a 56-year-old male...
The presence of a Meckel's diverticulum in the hernial sac is called a Littre's hernia. It is a rare complication of Meckel's diverticulum. We present a 56-year-old male patient who complained of swelling in the umbilical region. After the clinical examination and imaging studies, we diagnosed the patient with a partially reducible umbilical hernia. The patient underwent exploration and was found to have omentum, Meckel's diverticulum, and part of the ileum within the sac. The patient underwent segmental resection of the bowel, primary repair of the hernial defect, and onlay meshplasty. Postoperatively, the patient did not develop any complications.
PubMed: 37519505
DOI: 10.7759/cureus.41115 -
Prenatal Diagnosis Feb 2023Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to...
OBJECTIVE
Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.
METHOD
Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.
RESULTS
680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.
CONCLUSION
TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.
Topics: Pregnancy; Female; Humans; Turner Syndrome; Hernia, Umbilical; Ultrasonography, Prenatal; Incidence; Nuchal Translucency Measurement; Karyotype; Edema; Fetus; Phenotype; Chromosome Aberrations
PubMed: 36600414
DOI: 10.1002/pd.6302 -
Maedica Jun 2022The field of abdominal wall hernias has undergone many innovations. Ventral hernias have conventionally been treated by open on-lay mesh hernioplasty, open retromuscular...
The field of abdominal wall hernias has undergone many innovations. Ventral hernias have conventionally been treated by open on-lay mesh hernioplasty, open retromuscular mesh hernioplasty (Rives-Stoppa procedure) and laparoscopic intraperitoneal mesh hernioplasty. To develop an alternative strategy where a mesh is placed in retromuscular space by minimal access technique of the laparoscopic extended view totally extraperitoneal approach (e-TEP). This was an interventional and prospective study on series of 25 cases of either sex with age ≥18 years and ≤65 years presenting with umbilical hernia with abdominal wall defect. Laparoscopic e-TEP (extended view totally extraperitoneal repair) for umbilical hernia was performed and patients were usually discharged within 48.72 hours of the procedure. Follow-up surveillance for complications and recurrence of hernia was performed in an outpatient clinic the sixth week after surgery and by telephonic conversation every sixth months. Demographic profile, medical history, preoperative (comorbidities), perioperative and postoperative (during hospital stay) clinical profile of each patient was documented. Among our study participants there was a female preponderance, with a male to female ratio of 0.47:1. Patients' ages ranged from 27 to 61 years, with a mean (SD) of 41.7 (11.4) years. Average defect size was 4.2 cm². One hernia involved divarication of recti muscles. A polypropylene mesh of size 15 x 15 cm was placed. The mean operative times were 94 minutes, ranging from 60 to 120 minutes. The average hospital stay was three days. The mean follow-up period was 12.6 months. Two patients developed seroma at umbilicus with discharge from suture site which resolved in two weeks with regular dressing. Prolonged ileus was noted in two patients, which resolved spontaneously by the fourth day. None of the patients developed surgical site infection, skin necrosis, wound dehiscence, bowel obstruction, urinary complications, or deep vein thrombosis. Also, none of the patients required conversion to open surgery. The current study generates evidence in support of this technique to be adapted in centers with advanced laparoscopic skills.
PubMed: 36032608
DOI: 10.26574/maedica.2022.17.2.329 -
Birth Defects Research Nov 2019In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data...
BACKGROUND/OBJECTIVES
In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data from 30 population-based birth defect surveillance programs in the United States.
METHODS
As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012-2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects.
RESULTS
The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1-4.4) for gastroschisis and 2.1 (95% CI: 2.0-2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co-occur with other birth defects.
CONCLUSIONS
This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co-occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects.
Topics: Abdominal Wall; Abnormalities, Multiple; Adult; Congenital Abnormalities; Digestive System Abnormalities; Female; Gastroschisis; Hernia, Umbilical; Humans; Infant; Infant, Newborn; Live Birth; Male; Maternal Age; Middle Aged; Mothers; Population Surveillance; Pregnancy; Prevalence; Racial Groups; Registries; Risk Factors; United States
PubMed: 31642616
DOI: 10.1002/bdr2.1607 -
Journal of Pediatric Surgery Mar 2022This is a commentary on the manuscript entitled "Long-term active problems in patients with cloacal exstrophy: a systematic review" by Musleh L, Privitera L, Paraboschi...
This is a commentary on the manuscript entitled "Long-term active problems in patients with cloacal exstrophy: a systematic review" by Musleh L, Privitera L, Paraboschi I, et al.
Topics: Animals; Anorectal Malformations; Anus, Imperforate; Bladder Exstrophy; Cloaca; Hernia, Umbilical; Humans
PubMed: 34563356
DOI: 10.1016/j.jpedsurg.2021.09.004