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)

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.
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PMID:Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. 186 6

We report on an infant with neonatal Marfan syndrome (NMS) and hiatus/paraesophageal hernia who presented to a university hospital with an unusual early complication of this connective tissue disorder. An abnormal course of the nasogastric tube was noted on the first day of life by a radiograph of the chest and abdomen performed for bloody gastric drainage. The question of esophageal perforation was raised. Subsequent contrast study demonstrated a large hiatus/paraesophageal hernia with pronounced gastroesophageal reflux (GER). A part of the hernia was positioned posterior and to the right of the gastroesophageal junction (GEJ), presumably the location of the nasogastric tube as noted on the initial films. Although characterized by cardiac/aortic abnormalities, NMS can be a difficult diagnosis and should be considered in any infant with hiatus/ paraesophageal hernia with or without GER.
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PMID:Hiatus/paraesophageal hernias in neonatal Marfan syndrome. 938 35

Larsen syndrome is a rare congenital connective tissue disorder which is characterized by multiple dislocations of major joints, typical facial appearance, cervical spine narrowing and instability and respiratory difficulties secondary to laryngotracheomalacia. A case of general anaesthesia for laparoscopic hernia repair in a male child aged 16 months with this syndrome is presented. Anaesthesia was well tolerated though intubation proved difficult. Cervical spine instability and postoperative respiratory complications are potential problems.
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PMID:General anaesthesia in a child with Larsen syndrome. 1271 91

This report is the first description of an additional major complication seen with the Nuss repair. In addition to the conventional Rehbein and Ravitch operations for funnel chest, the minimally invasive procedure developed by Nuss has recently been added to the therapeutic options. The present report describes the case of a 21-year-old man who underwent a Nuss repair with implantation of 2 pectus bars 4 months previously. During the primary operation the central tendon of the left diaphragm was unnoticed injured. We performed an emergency operation on the patient to repair an incarcerated diaphragmatic hernia. The thorax was found to contain not only the entire, twisted stomach, but also the transverse colon and the spleen. During induction of anaesthesia the patient suffered a cardiovascular collapse. After successful resuscitation, thoraco-abdominal surgery was performed and the diaphragm closed from the thoracic side. Other authors have also reported major life-threatening complications of the Nuss-procedure, such as perforation of the heart. A careful evaluation of this procedure and the establishment of clear indications taking the age of the patient, the thoracic deformity and connective tissue disease into account, are mandatory to avoid discredit of this method.
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PMID:[Life-threatening complication of the Nuss-procedure for funnel chest. A case report]. 1466 21

Whereas interstitial hernias of infancy are a result of congenital abnormalities, those in adults have been blamed on anatomical banding. Many of the latter are associated with systemic, genetic, or acquired connective tissue disease, however. This results in attenuated aponeuroses, ruptured tendons, and atrophied fascia from collagen malformation and destruction. Muscle contractility is compromised by loss of connective tissue septae, reducing capillary density. The result is wasting and disaggregation, which explains interstitial defects filled with herniated extraperitoneal fat, which account for 1% of primary inguinal herniae. These were originally described in the transversus and internal oblique musculature by Hessert (Surg Gyn Obstet 16:566-568, 1913). Similar slits are seen with Spigelian herniae, all of which are interstitial. This hypothesis, if proven, would imply treatment of the pervasive co-morbidity with the protrusions.
Hernia 2007 Feb
PMID:Co-morbidity and interstitial herniation in the adult: an hypothesis. 1724 49

During the past 5000 years, ancient nomenclature and dogmas regarding the etiology of protrusions have accumulated. Whereas, in the abdomen, the Latin "hernia" supplanted Greek, it, based on content, persists in the pelvis as cystocele, rectocele, etc. Russell (Lancet 1:1519-1523, 1902) championed the congenital saccular theory of herniae, denying they could ever be acquired pathologically. Barring technical error, removal of the sac would cure. Despite dissent in the 1920s by Harrison, Keith, and Andrews, Russell's concepts held late into the twentieth century. We now know that pathology - systemic connective tissue disease - plays an important role in adult herniation. Tensionless prosthetic repair is usually required since the healing of damaged musculo-aponeurotic structures in abdomen or pelvis is impaired. Laparoscopists have declared sliding extraperitoneal prolapse of sacless kidney, ureter, bladder, and fat pad to be herniae. Similar vaginal protrusions should be denoted likewise. It is time gynecologists and herniologists join in the effort to develop antidotes for combating this pernicious co-morbidity which has been shown also to cause aneurysms, diverticulosis coli, skin changes, and emphysema. Prophylaxis should include exercise and going without cigarettes.
Hernia 2007 Aug
PMID:Archaic terms and dogmas impeding care of abdominal and pelvic herniation. 1750 28

Arthur Keith (1866-1955) was a renowned anatomist who published 529 contributions emphasizing the interaction between structure, function, and patient care. His only practice was 4 years as a family doctor, although he later trained to be a surgeon. Ten of his many articles related to hernia; two (1906, 1924) dealt with etiology. In these he rejected Russell's congenital saccular theory of abdominal herniation, since the latter's assertions regarding peritoneal diverticula were not supported by embryological research. Instead, Keith became the first to hypothesize that defects in the belly wall of adults were brought about by pathological damage to fasciae, aponeuroses and tendons, secondary to systemic connective tissue disease abetted by aging. The pelvis was similarly afflicted, leading to vaginal prolapse, the most common hernia among women. Diverticula were likely to sprout from a weakened alimentary tract. He stated that prevention was a serious consideration. The surgical establishment, overburdened by dogmas accumulated from 5,000 years of being solely responsible for the care of patients with herniae, ignored his hypothesis for decades. However, recent research in herniology has made him a prophet.
Hernia 2007 Dec
PMID:Arthur Keith, the anatomist who envisioned herniosis. 1825 5

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1 mutations were found outside of the exon 24-32 region (in exons 4 and 21). Mutations in exons 25-26 were overrepresented and were associated with shorter survival (p = 0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.
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PMID:Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. 2113 53

Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.
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PMID:Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. 2461 Oct 72

Cutis laxa (CL) or elastolysis is a rare inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds (Mitra et al., 2013). The clinical presentation and the type of inheritance show considerable heterogeneity (Shehzad et al., 2010). We aimed to present the atypical case of a young male patient diagnosed at 36-year-old with CL with systemic involvement. The complex medical history, with a suspected but unconfirmed progeria at nine months, repeated lung and urinary infections, complicated inguinoscrotal hernia, prostatic hypertrophy, bilateral entropion, colorectal diverticula and heart failure, suggested a systemic genetic disease, but the absence of family history made the diagnosis of CL difficult. The skin biopsy and the characteristic features discovered during anatomopathological exam made possible the positive and differential diagnosis, creating the link between the various organ involvement and CL diagnosis. Because of the age of our patient, of normal growth and mental development, and negative family history, we suspected an autosomal dominant form of CL with early onset and severe manifestation. Of course, we cannot exclude a recessive form, due to the heterogeneity of this disease.
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PMID:Clinical presentation of a patient with cutis laxa with systemic involvement: a case report. 2666 61


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