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

This report describes the case of a neonate who underwent fetal surgery for congenital diaphragmatic hernia (CDH) and pulmonary sequestration. His postnatal management was complicated by the additional diagnosis of transposition of the great arteries (TGA). TGA is particularly difficult to diagnose in the fetus. This triad has not previously been documented in the literature. Clinicians should have a high index of suspicion for associated anomalies, especially cardiac, when evaluating and counseling a pregnancy complicated by CDH.
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PMID:Fetal surgery for congenital diaphragmatic hernia and pulmonary sequestration complicated by postnatal diagnosis of transposition of the great arteries. 1464 16

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.
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PMID:Congenital cutis laxa syndrome: type II autosomal recessive inheritance. 1469 10

A 29-year-old man presented to the accident and emergency department complaining of a sudden onset of chest and upper abdominal pain. He had a past history of intravenous drug abuse and a previous stab wound to the left hypochondrium that had required laparotomy. On arrival he was distressed with grunting respiration. Initial chest X-ray showed a pneumopericardium. Despite titrated doses of opiate analgesia he became increasingly distressed, agitated and dyspnoeic. Repeat chest X-ray demonstrated an increase in the volume of air present within the pericardial sac. His clinical condition improved rapidly after needle pericardiocentesis decompression. A water-soluble contrast swallow revealed a diaphragmatic hernia with a filling defect in the greater curve of the stomach and contrast medium entering the pericardial sac. A thoraco-abdominal laparotomy confirmed a pre-existing diaphragmatic defect from the previous stab wound, with surrounding adhesions. A small portion of the stomach had herniated through this defect with a perforated gastric ulcer communicating directly into the pericardial sac.
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PMID:Spontaneous tension pneumopericardium. 1516 84

A 6-wk-old male infant became unresponsive after an uneventful general anesthetic for hernia repair. His symptoms were consistent with central anticholinergic syndrome. He appeared to awaken after treatment with IV physostigmine in a dose of 0.04 mg/kg. Because of the recurrence of sedation, a second physostigmine infusion was administered, which again led to transient arousal. Finally, the patient awoke spontaneously after 24 h and recovered uneventfully.
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PMID:Suspected central anticholinergic syndrome in a 6-week-old infant. 1550 33

This article presents a case study of an infant (JG) with an antenatal diagnosis of a left diaphragmatic hernia and an extralobar sequestration of his right lung, which was noted postnatally. JG's course was complicated by persistent pulmonary hypertension of the newborn (PPHN) and suspected pulmonary hypoplasia, and he required support with extracorporeal life support (ECLS). JG's case was unusual in his presentation of extreme PPHN that was unresponsive to inhaled nitric oxide and ECLS. His PPHN was nearly intractable, requiring treatment with vasodilators combined with intravenous sildenafil, which had never been tried in our institution before this case. The article concludes with a discussion of the etiology, diagnosis, and management of congenital diaphragmatic hernia and extralobar sequestration, singly and in combination.
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PMID:Extralobar sequestration with congenital diaphragmatic hernia: a complicated case study. 1561 17

Complete androgen insensitivity syndrome (CAIS) is characterized by a completely female phenotype in a 46,XY individual and is caused by mutations in the androgen receptor (AR) gene. A 5 year-old girl presented with bilateral hernia and was noted to have bilateral testes. She had a 46,XY karyotype and was diagnosed with CAIS. To identify the underlying mutation, the exons 2 to 8 of the AR gene were amplified by PCR using sets of known primers and reaction conditions. The results of the mutational analysis for the AR showed the presence of the R855H mutation; her mother was found to be heterozygous and both her 46,XX sister and her aunt had a normal AR gene. This mutation, is the result of a guanine to adenine transition in codon 855 at position 2926 in exon 7 of the AR gene, which causes an alteration of the coding nucleotide triad from CGC to CAC, which subsequently causes the substitution from arginine to histidine in the amino acid sequence of the receptor protein molecule. The same mutation has been reported to cause variable phenotypic expression, which could be explained by the presence of additional co-activating factors modifying the biological activity of the AR. The identification of an AR mutation in a girl with CAIS provides important information, because of the syndrome's genetic heterogeneity. This report emphasizes the fact that genetic determinants outside the coding sequence of the AR can influence the function of the AR protein molecule. Phenotypic expression of the mutation may be used for the construction of maps of functional domains of the AR.
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PMID:Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene. 1581 10

True hermaphroditism, a very rare cause of intersex, is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. As an exception we report an unusual case of a 14.5 year-old boy with phenotypically near-normal male genitalia and bilaterally descended gonads, who was seen for evaluation of gynecomastia and hematuria. His eunuchoid body habitus and mild mental retardation were compatible with Klinefelter's syndrome. He had a low level of free testosterone (15.2 pmol/l), and high level of estradiol (264.3 pmol/l) for his age. The patient was diagnosed as true hermaphroditism with 46,XX /47,XXY karyotype causing an ovotestis with inguinal uterus hernia in the left scrotum and a dysgenetic testis in the right scrotum.
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PMID:True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation. 1604 29

Descriptions concerning "hernia" can be found from the early historical years, and its treatment was a subject mentioned by numerous physicians of Antiquity, such as Hippocrates and Praxagoras of Kos. Yet, Aulus Cornelius Celsus, a famous doctor and encyclopedist of the first century AD, was among the first to propose surgical treatment and carry it out successfully, according to his accounts. Many physicians attempted to treat several types of "hernia" before him, but more "scientific" information with details and complete descriptions could be found only in Celsus' work. In his book De Medicina, Celsus described eight types of "hernia": bronchocele, umbilical hernia, intestinal and omental hernias, hydrocele, varicocele, sarcocele (hernia carnosa), and inguinal hernia. Among them, some retain their ancient nomenclature up to now, although others have acquired gradually different terminology or are not recognized by physicians today as "hernias" (e.g. , bronchocele). For each type of "hernia", Celsus provided his readers with an extremely detailed, well reasoned description of the execution of surgical procedures accompanied usually with pre- and postoperative instructions. His innovations particularly concerned ligature of the vessels. He recommended that an injured vessel be tied in two places with lint threads and then cut between the ties. Other pre- and postoperative practices, such as sterilization and bandaging of the incised area, were elements that helped in the advances of medicine, and some of them still exist in modern medicine.
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PMID:Treatment of "hernia" in the writings of Celsus (first century AD). 1615 66

This is a case report of a 73-year-old man with a small bowel obstruction secondary to an incarcerated paracaecal hernia. His large right inguinal hernia, initially suspected as a potential source of obstruction, turned out to be a red herring. Congenital internal hernias are a very rare cause of bowel obstruction. In this report we review the literature and embryology behind these uncommon occurrences.
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PMID:Red herring: a rare cause of small bowel obstruction. 1870 Feb 56

A 45-year-old man, with severe thoracic injury from a motor accident, is reported with traumatic aortic dissection type B and projection of the liver into the thoracic cavity due to a large rupture of the right hemidiaphragm. The patient was successfully managed with endoluminal stent placement in the descending thoracic aorta, and right thoracotomy for the repair of the diaphragmatic hernia. His postoperative course was uneventful. The co-existence of aortic traumatic dissection and right diaphragmatic rupture in trauma patients has never been reported in the literature previously, to our knowledge. Furthermore, the initial x-ray examination findings advocated injury of the right hemithorax and could be misleading. The diagnostic assessment must have a high index of suspicion, whereas the surgical manipulation needs to be fast and targeted to the major thoracic injuries of the patient.
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PMID:Right diaphragm rupture with extended traumatic dissection of the descending aorta. 1679 74


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