Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on 2 unrelated Japanese families, each with several individuals affected with hyperekplexia, a rare autosomal dominant form of exaggerated startle response of neonatal onset. In the first family, affected relatives included a 4-week-old boy, his mother, grandmother, a maternal uncle, and 2 maternal cousins. In the second family, affected were a 4-week-old boy, his father, and an elder brother. These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus and an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in relieving these manifestations in the affected infants and children. Genetic analysis of these 2 families and 4 others in the literature suggests autosomal dominant inheritance with considerable variability but complete penetrance. Another 3 families in the literature were reported, suggesting the existence of startle disorder with an autosomal recessive inheritance. A sporadic case is also known, presumably representing a fresh mutation of a dominantly inherited trait.
 ...
PMID:Hyperekplexia: pedigree studies in two families. 189 65

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.
 ...
PMID:Terminal deletion 6p23: a case report. 226 May 91

Pregnancy in woman with epilepsy arouses several serious medical problems and always belongs to the group of high obstetric risks. The aim of the present clinical study was the evaluation of the antiepileptic treatment efficiency during pregnancy, including risk factor, effects on pregnancy and delivery in epileptic patients. The study group consisted of 84 epileptic pregnant women which delivered between 1992-1998 in Obstetric Departments of University Medical School of Lublin. A randomised group 80 healthy pregnant women constituted the control group. The mean age of the analysed patients was 25 years. 51 epileptic patients were pregnant for the first time, 23 patients for the second time and 10 patients for the third time or more. The mean duration time of the disease was 8.6 years. In our study group: 45 (53.8%) patients experienced primary generalized tonic-clonic seizures and 39 (46.6%) patients experienced partial seizures. 26 patients were treated with monotherapy and the rest with polytherapy methods. The estimation of the seizure frequency during pregnancy in 52 (61.9%) patients did not change, in 13 (15.4%) patients increased. Among obstetric complications: urinary tract infections, hypertonia (EPH-gestosis) were observed. In 4 newborn congenital defects have been noted. Mothers of three of them were treated with Phenydantin (heart lesion, developmental anomaly of fingers). The fourth mother used Convulex (meningoarachnided hernia, hydrocephalus).
 ...
PMID:[Analysis of epileptic pregnant women delivering between 1992-1998 in obstetric departments of the University Medical School in Lublin]. 1204 3

Until recently, idiopathic anterior spinal cord herniation was thought to be vanishingly rare. It is an increasingly recognized, readily treatable, condition causing progressive thoracic myelopathy. We have operated on five cases and know of two other patients locally who are as yet undecided on surgery. We are aware of several other unpublished cases in the UK. The syndrome presents typically in middle age with a history of stepwise slowly progressive mid-thoracic anterior hemicord dysfunction characterized by hemianalgesia below the affected segment followed by asymmetric lower limb hypertonia, with initial sparing of posterior column sensation, that progresses through paraparesis to complete paraplegia. The radiological findings, although subtle, are equally typical and surgical repair is easily effected. With increasing clinical and radiological awareness, we believe the apparent incidence of this condition will increase. Idiopathic anterior spinal cord hernia is more common than currently appreciated, and should be positively considered and excluded in every case of progressive thoracic cord dysfunction.
 ...
PMID:Idiopathic anterior spinal cord hernia: under-recognized cause of thoracic myelopathy. 1532 25

We report two Japanese patients from two families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. The clinical course of both patients was typical for hyperekplexia, characterized by neonatal hypertonia and exaggerated startle response, and which improved gradually with age. One was associated with umbilical hernia and hip dislocation, diagnosed at 11 months, while the other was diagnosed at 1 month. Both showed positive head retraction reflex. Four Japanese families have been reported as having hyperekplexia including our cases, of which three have shown the same missense Arg271Gln mutation, most frequently found in patients from Northern Europe and the United States.
 ...
PMID:Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. 1647 53

Tension-free muscle closure is essential in kidney transplantation, both in adult and pediatric patients. Tight muscle closure may lead to renal transplant compartment syndrome either due to compression of the renal parenchyma or due to kinking of the renal vessels. It may also cause kinking of the transplant kidney ureter, wound dehiscence and incisional hernia. Many techniques have been proposed in an attempt to achieve tension-free closure. There is a wrong belief among some surgeons that using prosthetic mesh may increase the incidence of infection complications in these immunosuppressed patients. Also, there is fear that one is not able to monitor the renal graft by ultrasound and perform biopsy in the presence of a mesh. Other alternative techniques to mesh closure include subcutaneous placement and intraperitonealization of the kidney transplant. These techniques however, are valuable when mesh closure is unfavorable or contraindicated as in case of the presence of a potential source of infection like a stoma. Abdominal wall fasciotomy can be adjunctive to various techniques of muscle closure.
...
PMID:Abdominal wall closure of renal transplant recipients: an undermined challenge. 2501 68