Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The incidence of umbilical cord prolapse at Obafemi Awolowo University teaching hospital complex, Ile-Ife over a ten year period was 0.42% (one in 240 deliveries). The incidence was observed to be higher among the unbooked patients (76.7%). Analysis of the 60 cases reveals that multiparity, unengaged presenting part from cephalo-pelvic disproportion, prematurity, prelabour spontaneous rupture of membranes, breech presentation, and multiple pregnancy were the major contributory factors. The perinatal mortality (36.7%) was significantly higher than that of the hospital which was 8% (P < 0.05). The perinatal mortality rate was higher among the unbooked patients (86.4%). Caesarean section gave better results except when the cervix was fully dilated. Early resort to Caesarean section, proper and adequate antenatal care and properly supervised hospital delivery is recommended.
 ...
PMID:Umbilical cord prolapse: a clinical study of 60 cases seen at Obafemi Awolowo University Teaching Hospital, Ile-Ife. 974 5

To review retrospectively hysterectomy specimens sent to the histopathological department of the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria in order to document the histopathological findings and relate these with the age of patients. The records of patients with hysterectomy specimens sent to the histopathological laboratory within a period of 10 years were studied. Some of the histological slides were reviewed. The diagnosis of uterovaginal prolapse was based on clinical as well as pathological findings. Three hundred and thirty hysterectomy specimens seen over the study period of 10 years were studied. Women aged 40-49 years accounted for the highest number of cases, Hysterectomy was most often performed for leiomyoma (48%). followed by uterovaginal prolapse (17%). In women over the age of 70 years hysterectomy was most often performed for uterovaginal prolapse. Complication of pregnancy still accounted for a high percentage of hysterectomy (11%) Most were ante-partum and post partum haemorrhages as well as septic abortion in young women Ten of the specimens were normal both grossly and microscopically. Six of these were removed for suspected leiomyoma. The peak age incidence for women with leiomyoma who had hysterectomy corresponds with the overall peak age for women who had Hysterectomy. Leiomyoma was the commonest finding in hysterectomy specimens. However, clinicians should ensure that the condition is accurately diagnosed in all cases to avoid removal of a normal uterus.
 ...
PMID:Hysterectomies in Nigerians: histopathological analysis of cases seen in Ile-Ife. 1148 82

The protean manifestations of a novel maternally inherited point mutation of the mitochondrial genome are reported. The proband showed isolated, spastic paraparesis. A brother, who had suffered from a multisystem progressive disorder, ultimately died of cardiomyopathy. Another brother is healthy. The proband's mother showed truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, and diabetes mellitus. A muscle biopsy performed in the proband failed to show the morphological abnormalities typical of mitochondrial disorders; the activities of respiratory chain complexes were normal. However, complex I and IV activities were low in the muscle homogenate of the affected mother and brother. Sequence analysis of mtDNA showed a heteroplasmic mutation of the tRNA(Ile) gene (G4284A). The mutation load was approximately 55%, 80%, and 90% in the muscle mtDNA of the proband, his mother, and his affected brother, respectively. Mutation was undetected in the healthy brother, as well as in 100 control samples. Several cybrid clones containing homoplasmic mutant mtDNA from the proband showed significant reductions of complex IV activity and maximum oxygen consumption rate, compared with homoplasmic wild-type clones derived from the same subject.
 ...
PMID:Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. 1178 91

Recent genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels suffer from Kaufman oculocerebrofacial syndrome (KOS, also reported as blepharophimosis-ptosis-intellectual disability syndrome). The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However, to date, there are no studies that have determined the cellular or enzymatic function of UBE3B. Here, we report that UBE3B is a mitochondrion-associated protein with homologous to the E6-AP Cterminus (HECT) E3 ubiquitin ligase activity. Mutating the catalytic cysteine (C1036A) or deleting the entire HECT domain (amino acids 758-1068) results in loss of UBE3B's ubiquitylation activity. Knockdown of UBE3B in human cells induces changes in mitochondrial morphology and physiology, a decrease in mitochondrial volume, and a severe suppression of cellular proliferation. We also discovered that UBE3B interacts with calmodulin via its N-terminal isoleucine-glutamine (IQ) motif. Deletion of the IQ motif (amino acids 29-58) results in loss of calmodulin binding and a significant increase in the in vitro ubiquitylation activity of UBE3B. In addition, we found that changes in calcium levels in vitro disrupt the calmodulin-UBE3B interaction. These studies demonstrate that UBE3B is an E3 ubiquitin ligase and reveal that the enzyme is regulated by calmodulin. Furthermore, the modulation of UBE3B via calmodulin and calcium implicates a role for calcium signaling in mitochondrial protein ubiquitylation, protein turnover, and disease.
 ...
PMID:UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase. 2800 68