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)

The increased survival rate reached in infants with congenital diaphragmatic hernia (CDH) has shown a concomitant increase in late morbidity. Many complications including pulmonary damage, cardiovascular disease, gastro-intestinal disease, failure to thrive, neurocognitive defects and musculoskeletal abnormalities have been described. Long-term pulmonary morbidity in CDH consists of obstructive and restrictive lung function impairments due to altered lung structure and prolonged ventilatory support. Long-term consequences of pulmonary hypertension are unknown. Gastro-esophageal reflux disease (GERD) is also an important contributor to overall morbidity. Failure to thrive may be caused by GERD, insufficient intake due to oral aversion and increased caloric requirements due to pulmonary morbidity. Neurological outcome is determined by an increased risk of perinatal and neonatal hypoxemia in the first days of life of CDH patients. Many studies have addressed the substantial impact of the health problems described above, on the overall well-being of CDH patients, but only a few studies focus on the health-related quality of life. Considering the scattered data indicating substantial morbidity in long-term survivors of CDH, follow-up studies that systematically assess long-term sequelae are needed. Based on such studies, a more focused approach for routine multidisciplinary follow-up programs could be established. It is the goal of the French Collaborative Network to promote exchange of knowledge, future research and development of treatment protocols.
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PMID:[The long-term follow-up of patients with a congenital diaphragmatic hernia: review of the literature]. 2399 32

An 80-year-old woman presented to the emergency department with failure to thrive and weakness for 14 days. Medical history was significant for polio. On admission her electrocardiogram showed atrial flutter, and cardiac enzymes were elevated. Echocardiogram revealed a high pulmonary artery pressure, but no other wall motion abnormalities or valvulopathies. Chest x-ray showed a large lucency likely representing a diaphragmatic hernia. Computed tomographic scan confirmed the hernia. Our patient remained in atrial flutter despite rate control, and thereafter surgery was consulted to evaluate the patient. She underwent hernia repair. After surgery, the patient was taken off rate control and monitored for 72 hours; she did not have any episode of atrial flutter and was discharged with follow up in a week showing no arrhythmia. Her flutter was caused directly by the mechanical effect of the large hiatal hernia pressing against her heart, as the flutter resolved after the operation.
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PMID:Hiatal hernia squeezing the heart to flutter. 2423 86

We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and congenital diaphragmatic hernia (CDH). Whole exome sequencing identified a novel de novo c.2722G > T (p.E908X) mutation in the Myosin Heavy Chain 10 gene (MYH10) which encodes for non-muscle heavy chain II B (NMHC IIB). Mutations in MYH10 have not been previously described in association with human disease. The E908X mutation is located in the coiled-coil region of the protein and is expected to delete the tail domain and disrupt filament assembly. Nonmuscle myosin IIs (NM IIs) are a group of ubiquitously expressed proteins, and NM II B is specifically enriched in neuronal tissue and is thought to be important in neuronal migration. It is also expressed in cardiac myocytes along with NM IIC. Homozygous NMHC II B-/B- mouse knockouts die by embryonic day (E)14.5 with severe cardiac defects (membranous ventricular septal defect and cardiac outflow tract abnormalities) and neurodevelopmental disorders (progressive hydrocephalus and neuronal migrational abnormalities). A heterozygous MYH10 loss of function mutation produces a severe neurologic phenotype and CDH but no apparent cardiac phenotype and suggests that MYH10 may represent a novel gene for brain malformations and/or CDH.
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PMID:A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. 2500 5

The authors report on a case of diaphragmatic hernia occurring in a 3-month-old child affected by Marfan syndrome. Diagnosis was made on a chest X-ray and cardiac ultrasounds, performed because of the association of poor general condition, failure to thrive, and signs of respiratory distress. As a reminder, we emphasize the association between Marfan disease and diaphragmatic hernias as well as the diagnostic approach to reach an appropriate diagnosis.
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PMID:[Morgagni-Larrey diaphragmatic hernia in a 3-month-old child affected by Marfan syndrome]. 2643 76

Hiatal and paraesophageal hernia (HH/PEH) can be congenital, resulting from embryologic abnormalities/genetic predisposition, or acquired, most commonly after gastroesophageal surgery such as fundoplication. Minimizing circumferential esophageal dissection at the time of Nissen fundoplication has been shown to decrease the risk of acquired HH/PEH from 36.5% to 12.2%. Gastrointestinal, respiratory, and constitutional symptoms, including anemia and failure to thrive, are common with high rates of associated gastroesophageal reflux. Chest x-ray is often abnormal and upper GI confirms the diagnosis. Treatment is surgical with the goal of reducing the hernia contents, excising the hernia sac, closing the crura, and performing an antireflux procedure. The laparoscopic approach is safe and effective.
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PMID:Hiatal and paraesophageal hernia repair in pediatric patients. 2855 Aug 72

Autosomal recessive variants in the adenosine deaminase, tRNA specific 3 ( ADAT3 ) gene cause a syndromic form of intellectual disability due to a loss of ADAT3 function. This disorder is characterized by developmental delay, intellectual disability, speech delay, abnormal brain structure, strabismus, microcephaly, and failure to thrive. A small subset of individuals with ADAT3 deficiency have other structural birth defects including atrial septal defect, patent ductus arteriosus, hypospadias, cryptorchidism, and micropenis. Here, we report a sibling pair with novel compound heterozygous missense variants that affect a conserved amino acid in the deaminase domain of ADAT3. These siblings have many of the features characteristic of this syndrome, including, intellectual disability, hypotonia, esotropia, failure to thrive, and microcephaly. Both had gastroesophageal reflux disease (GERD), feeding problems, and aspiration requiring thickening of feeds. Although they have no words, their communication abilities progressed rapidly when they began to use augmentative and alternative communication (AAC) devices. One of these siblings was born with an anterior congenital diaphragmatic hernia, which has not been reported previously in association with ADAT3 deficiency. We conclude that individuals with ADAT3 deficiency should be monitored for GERD, feeding problems, and aspiration in infancy. They may also benefit from the use of AAC devices and individualized educational programs that take into account their capacity for nonverbal language development. Additional studies in humans or animal models will be needed to determine if ADAT3 deficiency predisposes to the development of structural birth defects.
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PMID:Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 3168 66


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