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 male infant with secondary hypothyroidism is described. Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels. The roentgenogram of the knee joints at 27 days showed absence of the distal femoral epiphyses. His serum thyroid-stimulating hormone (TSH) level was low despite decreased levels of triiodothyronine (T3) and tetraiodothyronine (T4) in serum. Assessment of the hypothalamic-pituitary hormone (TRH) nor growth hormone (GH) responses to L-arginine and insulin, while responses of both luteinizing hormone (LH) and follicle-stimulating hormone (FSH) to luteinizing hormone-releasing hormone (LH-RH) and adrenocorticotropic hormone (ACTH) to insulin were within normal limits. The malady of the patient in this case was not detected by newborn screening for congenital hypothyroidism due to the fact that in the Aomori district of Japan thyroid screening involves only the measurement of TSH. Such measurement cannot detect cases of secondary or tertiary hypothyroidism such as our patient. Replacement therapy was initiated at 58 days and his physical and mental development has been regarded as normal since treatment.
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PMID:Congenital secondary hypothyroidism with low serum GH and prolactin levels in a 27-day-old male infant. 628 48

Because nitric oxide (NO) dilates vascular smooth muscle cells, a deficiency of endogenous pulmonary nitric oxide production by nitric oxide synthase (NOS) has been suggested to be involved in the pathophysiology of pulmonary hypertension in congenital diaphragmatic hernia (CDH). Our aim was to determine whether experimentally induced CDH in rats results in a decrease in the synthesis of NO in the lungs. Adult Sprague-Dawley rats were fed 300 mg/kg of nitrofen at 10.5 days' gestation. CDH, control, and sham (dosed with nitrofen, but without CDH) lungs were homogenized at full term (22 days' gestation) for measurement of NOS activity using the 14C-L-arginine to 14C-L-citrulline conversion assay. Western blot analysis with anti-endothelial cell NOS (EC-NOS) monoclonal antibody (mAb) was performed, and NOS expression was measured by densitometry. NOS activity was highest in the pulmonary parenchyma of control rat lungs (0.420 +/- 0.20 fmol/min/mg lung; n = 11), intermediate in sham lungs (0.370 +/- 0.010 fmol/min/mg lung; n = 14), and lowest in CDH lungs (0.300 +/- 0.04 fmol/min/mg lung; n = 12). NOS activity in the CDH and sham lungs was significantly lower than that of control lungs (P < .05). There was no difference in pulmonary NOS activity between sham and CDH lungs. NOS protein expression by Western blot analysis paralleled the observation for NOS activity in all groups, with the highest concentrations in controls, intermediate expression in sham lungs, and lowest expression in CDH lungs. Both NOS expression and NOS activity are significantly decreased in CDH rat lungs. Pulmonary hypertension in this model may be attributable to a deficiency of endogenous NO. This is the first reported study to suggest that decreased NOS activity may result in pulmonary hypertension in CDH.
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PMID:Decreased pulmonary nitric oxide synthase activity in the rat model of congenital diaphragmatic hernia. 886 23

We have investigated the effects of high arginine (Arg) levels (7.5 mg/100 g body weight per hour) on the early integration of biocompatible mesh grafts into the rat abdominal wall. Studies were performed over implantation intervals of 6, 12, 24 or 48 hours (n=12, each). Arginine and related compounds were quantified in plasma, wound fluids and multiple tissues. Plasma nitric oxide (NO) production was studied. Strips were taken from the polypropylene fiber-host tissue interfaces (PTIs) for optical microscopic analysis and for immunohistochemical analysis using rat-specific antibodies against type I and type III collagens. Exogenous Arg was metabolized at the peripheral tissues but reliably reached the wound space. High amounts of Arg and ornithine (Orn) were detected in the specimens considered. No changes on citrulline (Ctr) or NO concentrations were observed, overall suggesting that, during the period studied, the arginase pathway predominated. The acute scarring response differed significantly in the two placements considered. The P-SS interface evidenced more extensive new tissue growth than the P-DS interface. Forty-eight hours after mesh implantation cellular infiltration, fibroblast proliferation, and mesh-surrounding angiogenesis were higher in the arginine-treated rats. Type III collagen staining was related to arginine treatment, being higher (++) in the study group. In conclusion, and independently of the site of mesh placement, supplemental Arg seemed to favorably affect early local collagen deposition. This could be potentially helpful to ameliorate the integration of biomaterials into the tissues and, consequently, to allow for the design of more selective therapeutic strategies to prevent hernia recurrence rates.
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PMID:Early effects of exogenous arginine after the implantation of prosthetic material into the rat abdominal wall. 1106 72

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

Prosthetic meshes are used as the standard of care in abdominal wall hernia repair. However, hernia recurrences and side effects remain unsolved problems. The demand by health care providers for increasingly efficient and cost-effective surgery encourages the development of newer strategies to improve devices and outcomes. Here, we evaluated whether l-arginine administration was able to ameliorate long-term polypropylene prostheses incorporation into the abdominal wall of Sprague-Dawley rats. Meshes were placed on-lay and continuous l-arginine was administered. In vivo biocompatibility was studied at 7, 25 and 30 days post-implantation. Effectively, l-arginine administration in combination with mesh triggered subtle changes in ECM composition that impinged on critical biochemical and structural features. Lastly, tensile strength augmented and stiffness decreased over the control condition. This could help to restructure the mechanical load transfer from the implant to the brittle surrounding tissues, i.e., impact load and fatigue load associated with mechanical tensions could be distributed between the mesh and the restored tissue in a more balanced manner, and ultimately help to reduce the incidence of loosening, recurrences, and local wound complications. Since the newly formed tissue is more mechanically stable, this approach could eventually be introduced to human hernia repair.
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PMID:Improved surgical mesh integration into the rat abdominal wall with arginine administration. 1609 79

Development of biomaterials for hernia and pelvic organ prolapse (POP) repair is encouraged because of high local complication rates with current materials. Therefore, we aimed to develop a functionalized electrospun mesh that promotes tissue ingrowth and provides adequate mechanical strength and compliance during degradation. We describe the in vivo function of a new supramolecular bioactivated polycarbonate (PC) material based on fourfold hydrogen bonding ureidopyrimidinone (UPy) units (UPy-PC). The UPy-PC material was functionalized with UPy-modified cyclic arginine-glycine-aspartic acid (cRGD) peptide additives. Morphometric analysis of the musculofascial content during wound healing showed that cRGD functionalization promotes myogenesis with inhibition of collagen deposition at 14 days. It also prevents muscle atrophy at 90 days and exerts an immunomodulatory effect on infiltrating macrophages at 14 days and foreign body giant cell formation at 14 and 90 days. Additionally, the bioactivated material promotes neovascularization and connective tissue ingrowth. Supramolecular cRGD-bioactivation of UPy-PC-meshes promotes integration of the implant, accelerates tissue ingrowth and reduces scar formation, resulting in physiological neotissue formation when used for abdominal wall reconstruction in the rat hernia model. Moreover, cRGD-bioactivation prevents muscle atrophy and modulates the inflammatory response. Our results provide a promising outlook towards a new type of biomaterial for the treatment of hernia and POP. STATEMENT OF SIGNIFICANCE: Development of biomaterials for hernia and pelvic organ prolapse (POP) repair is encouraged because of high local complication rates with current materials. Ureidopyrimidinone-polycarbonate is a elastomeric and biodegradable electrospun mesh, which could mimic physiological compliance. The UPy-PC material was functionalized with UPy-modified cyclic arginine-glycine-aspartic acid (cRGD) peptide additives. Supramolecular cRGD-bioactivation of UPy-PC-meshes promotes integration of the implant, accelerates tissue ingrowth and reduces scar formation, resulting in physiological neotissue formation when used for abdominal wall reconstruction in rat hernia model. Moreover, cRGD-bioactivation prevents muscle atrophy and modulates the inflammatory response. These data provide a promising outlook towards a new type of biomaterial for the treatment of hernia and POP.
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PMID:Functional supramolecular bioactivated electrospun mesh improves tissue ingrowth in experimental abdominal wall reconstruction in rats. 3200 52