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)

Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.
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PMID:Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case. 1962 98

Occasionally, patients with mitochondrial disorder (MID) develop malignant hyperthermia (MH)-like reactions or show an abnormal halothane-caffeine in-vitro contracture test. In a 66 year old Caucasian male with facial dysmorphism, epilepsy, chronic muscle cramps, repeatedly elevated creatine-kinase, Dupuytren contracture, and hypertrophic cardiomyopathy, a MID was found upon the clinical presentation, blood chemical investigations, and the muscle biopsy findings. Upon request of the anesthesiologists prior to surgery of a hernia cicatrices a halothane-caffeine in-vitro contracture test was carried out according to the protocol of the European MH Group (EMHG), showing abnormal hypercontractility to halothane and caffeine, resulting in the diagnosis susceptible MH according to the EMHG guidelines. Subsequent general anesthesia was carried out without complications by avoiding volatile anesthetics and succinylcholine. In the past the patient had already tolerated four procedures under general anesthesia, without any complication. MIDs may be associated with an abnormal halothane-caffeine in-vitro contracture test. Though previous general anesthesias had been carried out without major complications, it cannot be ruled out that MH-like manifestations may develop during future anesthesias if trigger agents are not avoided.
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PMID:Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. 1971 56

Scrotal hernias (SH) are common congenital defects in commercial pigs, characterized by the presence of abdominal contents in the scrotal sac, leading to considerable production and animal welfare losses. Since the etiology of SH remains obscure, we aimed to identify the biological and genetic mechanisms involved in its occurrence through the whole transcriptome analysis of SH affected and unaffected pigs' inguinal rings. From the 22,452 genes annotated in the pig reference genome, 13,498 were expressed in the inguinal canal tissue. Of those, 703 genes were differentially expressed (DE, FDR < 0.05) between the two groups analyzed being, respectively, 209 genes upregulated and 494 downregulated in the SH-affected group. Thirty-seven significantly overrepresented GO terms related to SH were enriched, and the most relevant biological processes were muscular system, cell differentiation, sarcome reorganization, and myofibril assembly. The calcium signaling, hypertrophic cardiomyopathy, dilated cardiomyopathy, and cardiac muscle contraction were the major pathways possibly involved in the occurrence of the scrotal hernias. The expression profile of the DE genes was associated with the reduction of smooth muscle differentiation, followed by low calcium content in the cell, which could lead to a decreased apoptosis ratio and diminished muscle contraction of the inguinal canal region. We have demonstrated that genes involved with musculature are closely linked to the physiological imbalance predisposing to scrotal hernia. According to our study, the genes MYBPC1, BOK, SLC25A4, SLC8A3, DES, TPM2, MAP1CL3C, and FGF1 were considered strong candidates for future evaluation.
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PMID:Inguinal Ring RNA Sequencing Reveals Downregulation of Muscular Genes Related to Scrotal Hernia in Pigs. 3197 88