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)

We studied two cases of beta-glucuronidase deficiency. One patient's disease was present at birth and the other patient's disease appeared in early childhood. The symptoms observed in both patients, although of differing severity, included peculiar facies, cloudy cornea, hepatosplenomegaly, hernia, kyphosis, recurrent infections, short stature, and developmental delay, as well as increased excretion of urinary chondroitin sulfate A/C and decreased levels of beta-glucuronidase activity. We reviewed all of the reported cases and examined the biochemical and clinical heterogeneity observed in this disorder.
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PMID:Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. 315 9

The present paper describes 3 out of a total of 9 siblings, aged 9, 17, and 18, with the following symptoms: gargoyle-like facial features, clouding of the cornea in both eyes, dysostosis multiplex, slightly impaired intelligence, hepatosplenomegaly, umbilical hernia, and increased secretion of mucopolysaccharides in the urine, in particular dermatan and heparan sulfate. Some of the symptoms are mid-way between those of Hurler's and Scheie's syndromes, both having the same deficiency of the enzyme alpha-1-iduronidase. McKusik developed the theory that the genes responsible for the clinical pictures of Hurler's and Scheie's syndromes are alleles and hence cases such as those described here should be considered as allelomorphic compounds.
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PMID:[Compound Hurler-Scheie disease in 3 siblings]. 393 47

The article is a review of the results of a method of use of prophylactic antibiotic therapy in 2278 clean procedures performed by the author from 1959 to 1981. The procedures analyzed are mastectomy, cholecystectomy, inguinal hernia repair, incisional hernia repair, laparotomy, and thyroidectomy. These cases are considered separately and compared with other detailed series in the literature. The author feels that the infection rate of 0% in this series when compared to rates of 1.7 per cent to 5 per cent in the literature for the same type of cases warrants use of this method. The major points in the method are 1) use of topical irrigating solution of 0.5 per cent neomycin sulfate; 2) beginning proper intravenous antibiotic administration when the patient reaches the recovery room; 3) limit the use of antibiotic to 3 days past the day of surgery unless drains or hemovacs are still in place, in which case the antibiotic is continued for 24 hours after their removal; 4) careful and strict daily examination and evaluation of the patient in order to discontinue the antibiotic at the outset of any problems; 5) continued strict adherence to basic surgical principles throughout the entire surgical experience of the patient.
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PMID:Prophylactic antibiotic usage in clean surgical procedures. 670 29

The offspring of pregnant Sprague-Dawley rats exposed to nitrofen on gestational day 9.5 develop left-sided congenital diaphragmatic hernia (CDH). Twenty-four hours after treatment, on day 10.5, supravital staining with Nile blue sulfate and histological examination showed bilateral excessive cell death in cervical somites 2 through 4. After 48 hours, on day 11.5, cell death was absent in the cervical somites but was apparent in the mesoderm adjacent to the somites in the septum transversum and in the developing sympathetic ganglia adjacent to the dorsal aortae. Cell death was not apparent in the foregut or lung primordia on either day 10.5 or 11.5. The incidence of nitrofen-exposed embryos with such patterns of cell death closely paralleled that of left-sided CDH in similarly treated day 21.5 fetuses. Control animals treated with olive oil had normal programmed cell death patterns in the regions of interest and had no evidence of CDH on day 21.5. It is possible that these patterns of excessive cell death early in gestation may play a role in the genesis of diaphragmatic hernia. Mesoderm derived from cervical somites 3 through 5 contributes to the diaphragmatic anlage and forms the major portion of the muscle of the diaphragm. Because nitrofen damages mesodermal cell populations in cervical somites 2 through 4 and in the mesenchyme adjacent to the septum transversum 24 to 48 hours after administration, the authors propose that damage to these populations may reduce progenitor cells needed to populate the diaphragmatic anlage, thereby hindering pleuro-peritoneal canal closure.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Embryonic cell death patterns associated with nitrofen-induced congenital diaphragmatic hernia. 753 10

Persistent pulmonary hypertension of the newborn (PPHN) is a potentially life-threatening condition characterized by a failure of pulmonary vascular resistance to decrease adequately during the transition to extrauterine life. Inhaled nitric oxide, a vasodilator that acts selectively on the pulmonary circulation, has revolutionized the treatment of this condition. However, inhaled nitric oxide has not proven effective in all patients, particularly those with congenital diaphragmatic hernias or meconium aspiration syndrome. Furthermore, large clinical trials of inhaled nitric oxide have failed to demonstrate significant differences in mortality between nitric oxide-treated and control infants with PPHN. Other therapeutic approaches to PPHN have been limited by a relative lack of specificity for the pulmonary circulation, and have received much less attention. Pharmacologic approaches, including pulmonary surfactants, prostacyclin, endothelin antagonists, Ca(2+)-channel blockers, magnesium sulfate, and tolazoline, have exhibited varying degrees of efficacy in lowering pulmonary vascular pressures in humans and/or animals. A number of these agents are also effective when used in combination. For example, phosphodiesterase inhibitors have been reported to act synergistically with inhaled nitric oxide. Surfactants also appear to be useful in PPHN, particularly in patients with congenital diaphragmatic hernia, when used in combination with other therapies. Surfactant lavage and other novel therapies may also be effective in combination therapy of meconium aspiration syndrome. Further studies should be directed at defining the optimal therapies in specific clinical settings. Validation of multiple therapeutic modalities for PPHN, including inhaled nitric oxide, will allow for rational, combined vasodilator strategies that are specific for the underlying pathophysiology in each patient.
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PMID:Pharmacologic therapy of persistent pulmonary hypertension of the newborn. 1131 14

Basic method of treating diskogenic radiculopathy is surgical treatment, aim of which is to remove the disk hernia and the root compression. Traditional methods of therapy are of temporary character. The aim of our study was to search for alternative methods of treatment of diskogenic radiculopathy using glukosamin sulfate and chondroitin sulfate. 6 patients have been examined with the aid of clinical characteristics and spinal MRI, a diagnosis of lumbar diskopathy was stated. Treatment was carried out using glukosamin sulfate and chondroitin sulfate according to specific scheme. The paper includes two cases as illustrations. The observations carried out on the patients showed that a long-term usage of glukosamin sulfate and chondroitin sulfate can serve as an alternative way of treating the diskogenic radiculopathy at least in some cases. On the other hand, it should be supposed that as a long-term course treatment with the glukosamin and chondroitin improves metabolism of cartilageous tissues and it can serve as a prevention measure for the reappearance of the pathological process.
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PMID:[Optimisation issues of conservative treatment of neurological abnormalities in dystrophyc-degeneration processes of the vertebral column]. 1663 82

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.
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PMID:Mucopolysaccharidosis VI. 2038 7

Laparoscopic approach has been suggested as the definitive treatment for large hiatal hernias. Reinforcement of the hiatoplasty and the need to perform antireflux surgery is still undergoing discussion. The purpose of this study was to evaluate the postoperative results, with special emphasis on the recurrence rate and reflux after surgery comparing the use or not of mesh reinforcement. This prospective study included 81 patients with a complete evaluation through a clinical questionnaire, barium sulfate radiologic evaluation, endoscopy, manometry, and 24-hour intraesophageal pH monitoring before and after a hiatoplasty with an antireflux procedure. Mesh reinforcement was used in 23 patients. Postoperative complications occurred in 11 patients (13.6%), without mortality. Recurrent hernia was observed in 10 patients without mesh reinforcement (12.3%), whereas those with mesh reinforcement showed no hiatal hernia recurrence (P = 0.33). Normal resting lower esophageal sphincter pressure was obtained after fundoplication in 87.2% of patients, and abnormal acid reflux was observed in 12.8% of patients after surgery. In conclusion, mesh reinforcement in patients with large Type IV could prevent recurrent hiatal hernias, and an antireflux procedure must be performed in order to avoid postoperative acid reflux.
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PMID:Postoperative results after laparoscopic approach for treatment of large hiatal hernias: is mesh always needed? Is the addition of an antireflux procedure necessary? 2048 Aug 47

We report herein the case of a 64-year-old male who presented with hematochezia. The patient was diagnosed with malignant melanoma of the anorectum using colonoscopy. Preoperative studies revealed no distant metastases, and he underwent Miles operation. Pathological exams revealed that the tumor had invaded the submucosa with lymphatic and venous invasion. Cancer cells were found in regional lymph nodes. Post-operative CT scan demonstrated multiple metastases in the liver, and he received two courses of combined chemotherapy, DAV regimen (dacarbazine: DTIC 100 mg iv days 1-5, nimustine hydrochloride: ACNU 100 mg iv day 1, vincristine sulfate: VCR 1 mg iv day 1), leading to a complete response. However, malignant melanoma cells were found in hernia contents at the operation for left inguinal hernia, which led to a diagnosis of recurrent malignant melanoma. The patient has subsequently been well without any sign of recurrence including liver metastases. To our knowledge, this is the first report of a complete response in a patient with multiple liver metastases of anorectal malignant melanoma after DAV regimen.
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PMID:[A case report of anorectal malignant melanoma showing a complete response after DTIC/ACNU/VCR therapy]. 2094 73

Extracellular matrix (ECM) materials are currently utilized for soft tissue repair applications such as vascular grafts, tendon reconstruction, and hernia repair. These materials are derived from tissues such as human dermis and porcine small intestine submucosa, which must be rendered acellular to prevent disease transmission and decrease the risk of an immune response. The ideal decellularization technique removes cells and cellular remnants, but leaves the original collagen architecture intact. The tissue utilized in this study was the central tendon of the porcine diaphragm, which had not been previously investigated for soft tissue repair. Several treatments were investigated during this study including peracetic acid, TritonX-100, sodium dodecyl sulfate, and tri(n-butyl) phosphate (TnBP). Of the decellularization treatments investigated, only 1% TnBP was effective in removing cell nuclei while leaving the structure and composition of the tissue intact. Overall, the resulting acellular tissue scaffold retained the ECM composition, strength, resistance to enzymatic degradation, and biocompatibility of the original tissue, making 1% TnBP an acceptable decellularization treatment for porcine diaphragm tendon.
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PMID:Method of preparing a decellularized porcine tendon using tributyl phosphate. 2121 Apr 98


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