Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infants with congenital diaphragmatic hernia (DH) and profound pulmonary hypoplasia are currently unsalvageable. The authors previously demonstrated that tracheal ligation (TL) accelerates fetal lung growth and reverses the pulmonary hypoplasia of fetal nephrectomy. The purpose of this study was to determine if the pulmonary hypoplasia of experimental DH could be similarly reversed and, if so, whether the resulting lungs would show better function than those of their DH counterparts. Eighteen fetal lambs were divided into three experimental groups of six animals each. In group 1, DH was created at 90 days' gestation. In group 2, DH was created at 90 days' gestation and TL performed during the same operation. Group 3 consisted of sham-operated controls. These animals were delivered near full-term, and their lungs analyzed by standard morphometric techniques. Ten additional fetal lambs were divided into two experimental groups of five animals each. In group 4, DH was created at 90 days' gestation. In group 5, DH was created at 90 days' gestation and TL performed 20 days later, at 110 days' gestation. These animals were pressure-ventilated via tracheostomy over a 2-hour period in which PaO2, PaCO2, and compliance were measured. Intratracheal pressure (ITP) was measured at the time of delivery in all groups. Upon retrieval, DH animals had abdominal viscera in the chest and small lungs; in contrast, DH/TL animals had the herniated viscera reduced from the chest by enlarged lungs. DH/TL lungs showed markedly increased growth, with significant increases in lung volume:body weight ratio (LV:BW; P = .0001), alveolar surface area (ALV.SA; P = .0001), and alveolar number (ALV#) (P = .0001) when compared with those of the DH or control group. This growth was associated with a normal maturation pattern based on histological appearance, normal airspace fraction, and normal alveolar numerical density. ITP in the DH/TL group was increased when compared with that of DH and control animals (P = .0001). Total lung DNA and protein were both elevated in the DH/TL animals (P = .0001). However, the DNA:protein ratio remained normal, suggesting lung growth had occurred through cell proliferation, not by hypertrophy. When ventilated over a range of settings, DH/TL lungs were more compliant (P = .0001) and achieved higher PaO2s (P < .003) and lower PaCO2s (P = .0001) than their DH counterparts. From these data, the authors conclude: (1) Experimental fetal DH produces hypoplastic lungs that are not capable of adequate gas exchange with conventional ventilation.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:Experimental fetal tracheal ligation reverses the structural and physiological effects of pulmonary hypoplasia in congenital diaphragmatic hernia. 817 1

Sacral hernias are uncommon defects developing through the pelvic floor after partial or total sacrectomy. We report on a 29-year-old woman, who has been under our care with a cystic formation after perineosacral resection of a rhabdomyosarcoma and partial sacrectomy. The cystic tumor was resected and a mesh repair performed to prevent sacral herniation. The current literature is summarized; etiology and management recommendations of this rare complication are discussed.
Hernia 2003 Dec
PMID:Mesh reconstruction preventing sacral herniation. 1288 83

Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C). Topics discussed in this article are organized as a series of perspectives: general, historical, epidemiologic, clinical, pathologic, genetic/molecular, diagnostic, and differential diagnostic.
 ...
PMID:Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. 1601 Apr 95

Apart from serving as an important landmark for description and staging of pathologic conditions, the diaphragm is also affected by various types of pathologic conditions in children. Congenital abnormalities affecting the diaphragm include aplasia or hypoplasia, accessory diaphragm, eventration, and hernias. Congenital diaphragmatic hernias (CDHs) include Bochdalek, Morgagni, and hiatal hernias. Although survival rates are improving with the advent of new therapies, there is still significant morbidity and mortality associated with CDH. The morbidity and mortality depend on the associated congenital anomalies, the size of the hernia, and the degree of lung hypoplasia. Newer surgical repair techniques for the diaphragm have resulted in new postoperative complications and imaging appearances. Ultrasonography has become the modality of choice for evaluation of diaphragmatic paralysis. The diaphragm is uncommonly affected by trauma in children; when diaphragmatic injury is present, it usually indicates high-impact trauma associated with other severe injuries. Primary diaphragmatic tumors are very rare in children, with rhabdomyosarcoma being the most common. The diaphragm may also be secondarily involved by invasion of an adjacent tumor. Radiologists should have an understanding of the embryology, anatomy, and anatomic variations of the diaphragm and should be aware of the imaging appearances of pathologic conditions affecting the diaphragm in children.
 ...
PMID:Multimodality imaging of the pediatric diaphragm: anatomy and pathologic conditions. 2105 21

Rhabdomyosarcoma (RMS) is a rare type of soft tissue sarcoma that mainly affects children. RMS in childhood commonly occurs in the head and neck, followed by the genitourinary tract. Primary pulmonary rhabdomyosarcoma (PPR) is extremely rare. We report a 31-month-old girl who had PPR with brain metastasis. The girl with wheezing and cough of 3 weeks and vomiting of 1 day was referred to a county hospital. At 9:00 a.m., a chest X-ray showed an abnormal shadow on a chest radiogram. Four hours later, in the process of computed tomography (CT) scan her condition deteriorated dramatically, while resuscitation efforts were unsuccessful. CT showed a solid mass in the right middle lung lobe. Subsequent autopsy revealed a large tumour located in the right middle lung lobe. Surprisingly, a mass of haematoma appearance was found in the left occipital lobe. Histological and immunohistochemical investigations of the masses established the diagnosis of PPR with brain metastasis. Herniation of brain, caused by the brain metastasis, was ascertained as the cause of death. The morphological and pathological findings are presented; the difficulty to diagnose PPR and the medico-legal implications are discussed.
 ...
PMID:Primary pulmonary rhabdomyosarcoma with brain metastases in a child: a case report with medico-legal implications. 2391 Aug 69