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)

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.
 ...
PMID:Intrachromosomal triplication of 15q11-q13. 783 57

The case records of 20 horses with tetanus referred to the Ontario Veterinary College-Veterinary Teaching Hospital between 1970 and 1990 were reviewed. The fatality rate was 75%. There was a strong association with previous vaccination and survival (P = .03). Most of the animals had been injured an average of 9 days (range 2 to 21 days) prior to development of clinical signs. Hyperesthesia and prolapse of the third eyelid were the most common clinical signs. Treatment regimens varied during hospitalization; however, all horses received parenteral penicillin, tranquilizers, tetanus toxoid, and antitoxin. Five of the nonsurviving animals were given intrathecal tetanus antitoxin. One animal had seizures as a complication of intrathecal treatment. The prognosis was best for horses that (1) had been vaccinated prior to the injury, (2) responded to the phenothiazine tranquilizers, and (3) did not rapidly (over 24 to 48 hours) become recumbent. Considering the species susceptibility, potential for contaminated wounds, and the increased survival of vaccinated horses, yearly revaccination is recommended.
 ...
PMID:Tetanus in the horse: a review of 20 cases (1970 to 1990). 804 76

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
 ...
PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

The objectives of this study were to determine if infants delivered with severe acidemia (cord umbilical arterial pH < 7.0) had short-term neurologic effects and whether infants with persistent bradycardia who received cardiopulmonary resuscitation (CPR) in the delivery room would be at greatest risk for subsequently developing neonatal seizures. Forty-seven infants (39 term, 8 preterm) delivered with severe fetal acidemia were studied. The mean (+/- S.D.) for pH, PaCO2, and base deficit for the 47 infants was 6.86 +/- 0.11, 97 +/- 22 mm Hg, and -17 +/- 4, respectively. Labor complications were common and included placental abruption in 8, ruptured uterus in 4, cord prolapse in 3, fetal heart rate decelerations in 12, and other (n = 14). Most infants were delivered via emergency cesarean section (n = 29). Delivery room interventions included oxygen and bag/mask ventilation only (n = 20) and intubation and ventilation (n = 22); 7 of 22 infants received CPR and epinephrine for persistent bradycardia (heart rate < 80 beats/min despite ventilatory support). Five infants required no intervention. Eight infants (17%) had seizures; 6 of these infants received CPR in the delivery room. Short-term outcomes were abnormal in 7 of 8 infants (i.e., death in 5, abnormal neurologic examination at discharge in 2). In 39 infants without seizures, 32 had transient neurologic abnormalities (i.e., irritability, hyperreflexia, proximal hypotonia) which resolved by discharge, and 2 had abnormal and 5 normal examinations.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Severe fetal acidemia: neonatal neurologic features and short-term outcome. 821 39

Forty patients with hypertelorism seen in the past 16 years were reviewed retrospectively. Combined intra- and extracranial surgical approach was used for 37 severe and moderate cases and subcranial approach (U-osteotomy) for 3 moderate cases. Gratifying results were obtained in patients with different types of hypertelorism by a multidisciplinary team. Complications were also reviewed. Of the 37 cases of intra- and extracranial corrections, 1 died, 4 had cerebrospinal fluid leakage and 4 had keratitis. No seizure, cerebral edema, meningitis, blindness, and ptosis occurred in this series. The average age was 13 years and two months. Operating time averaged 6 hours and 50 minutes. Hypertelorism was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma. Satisfactory esthetic appearance was achieved in most of the cases.
 ...
PMID:Surgical correction of hypertelorism. Report of 40 cases. 840 75

Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.
 ...
PMID:Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. 911 34

RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. The syndrome associates a Parkinson's syndrome, athymormia and hypoventilation. Massive neuronal depopulation in the locus niger and rare Lewy bodies are seen. PARKINSON'S SYNDROME WITH PERIPHERAL NEUROPATHY: In addition to the extrapyramidal signs, there is ptosis, neuropathy and sometimes dementia and major neurone loss in the locus niger. No Lewy bodies have been identified. PARKINSON'S SYNDROME WITH PALLIDOPONTONIGRAL DEGENERATION: Onset occurs between 32 and 58 years, leading to death within 8 years. Extrapyramidal signs, falls, supranuclear palsy and dementia are observed. Neurone loss is severe in the pars compacta, locu sniger, palladium, pons, and mesencephalic tegmentum. There are no Lewy bodies. EARLY-ONSET PARKINSON'S SYNDROME: Beginning between 2 and 39 years, there are no associated neurological signs. Severe neurone loss in the pars compacta and the pars reticulata of the niger locus without Lewy bodies. PARKINSON'S SYNDROME-DEMENTIA WITH "BALLOON NEURONES": This syndrome begins at 24-59 years and leads to death in 8 to 11 years. There are extrapyramidal signs, a pyramidal syndrome, dementia, generalized seizures and dysautonomia. Major neurone loss occurs with balloon neurones in the anterior temporal cortex, the amygdala, the parahippocampal gyrus, the hypothalamus, the dorsal nucleus of the X and rare Lewy bodies. PARKINSON'S SYNDROME FRONTAL DEMENTIA AND AMYOTROPHY: Beginning between 27 and 56 years, the syndrome leads to death in 13 years and associates frontal dementia with motor neurone defects with the extrapyramidal signs. There is neurone loss in the locus niger and amygdala as well as in the anterior horn of the cord. There are no Lewy bodies. SPECIFIC CLINICOPATHOLOGICAL ENTITIES: is the most likely hypothesis. There is no anatomoclinical evidence suggesting these syndromes should be considered to be Parkinson's disease.
 ...
PMID:[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?]. 912 34

Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical symptoms have been analysed to determine whether these atypical symptoms could be due to involvement of these other loci. The occurrence of seizures in two individuals correlated with a deletion extending proximal of IDS, up to and including part of the FMR2 locus. Other (non-seizure) symptoms were associated with distal deletions. In addition, a group of patients with no variant symptoms, and a characteristic rearrangement involving a recombination between the IDS gene and an adjacent IDS pseudogene (IDS psi), showed normal expression of loci distal to IDS. Together, these results identify FMR2 as a candidate gene for seizures, when mutated along with IDS.
 ...
PMID:Molecular and phenotypic variation in patients with severe Hunter syndrome. 914 53

We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.
 ...
PMID:Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. 922 Jan 94

Shigella dysenteriae type 1 causes the most severe form of bacillary dysentery. The spectrum of illness ranges from mild watery diarrhoea to severe bloody diarrhoea. Shigellosis is often associated with intestinal complications, including intestinal perforation, intestinal obstruction, toxic dilatation of the colon, and prolapse of the rectum; systemic complications include septicaemia, hyponatraemia, hypoglycaemia, seizure, encephalopathy, haemolytic-uraemic syndrome, and malnutrition. Arthritis and conjunctivitis are rare extra-intestinal complications of shigellosis. Annually, about 110,000 patients receive treatment in the Dhaka Hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh for diarrhoea and diarrhoea-associated illnesses, of which 11% are due to shigellosis. However, arthritis associated with shigellosis has not been reported from this population. Arthritis has been reported in association with infection due to S. flexneri and S. sonnei from other places. We are unaware of any reported case of arthritis in association with S. dysenteriae type 1 infections. In this report, we describe the clinical and laboratory features of a young woman who developed arthritis following S. dysenteriae type 1 infection.
 ...
PMID:Reactive arthritis associated with Shigella dysenteriae type 1 infection. 930 97


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>