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Biomedical subjects

A David

Publications and source records attributed to A David.

At least 55 records · Page 3Linked to original sources

Psychological predictors of insight and compliance in psychotic patients.

BACKGROUND: A possible neuropsychological basis for poor insight in psychosis has been proposed. Consistent supporting evidence for this is lacking. METHOD: Seventy-four consecutive acutely psychotic in-patients who were recruited for a randomised controlled trial of compliance therapy were given a battery of neuropsychological tests, along with a comprehensive clinical assessment, before and after the intervention. RESULTS: Performance on neuropsychological tests improved during the patients' admission and treatment in hospital, as did symptoms and levels of insight. Cognitive function showed no relationship to insight and compliance initially, and very little after the intervention. Factors related to insight and compliance prior to discharge included: diagnosis, attitudes to medication, side-effects, being a detained patient, and whether or not compliance therapy was given. CONCLUSIONS: Clinical variables and attitudes to treatment appear to be more relevant to compliance and the development of insight in acute psychosis than neuropsychological impairment.

Adolescent

[Surgical treatment of ankle joint fractures with biodegradable screws and plates of poly-l-lactide].

In a first clinical protocol 19 ankle fractures have been fixed by plates and screws made of biodegradable polylactic acid. Fracture confirmation was achieved within 6 weeks. 52% of our patients demonstrated an aseptic soft tissue problem caused by delayed clearance of the degrading polylactide particles. In a 2nd protocol with 7 patients volume reduced plates and screws with flat heads were applied. None of these patients had any soft tissue reaction. These results emphasize that the application of plates and screws of polylactic acid is acceptable for fixation of ankle fractures. Soft tissue inflammatory reactions can be avoided by using volume reduced implants.

Adult

Metastatic breast carcinoma manifesting as postmenopausal uterine bleeding in a patient on tamoxifen therapy.

A rare case of breast carcinoma metastasizing to the endometrial and endocervical mucosa during tamoxifen treatment is presented. Routine histologic evaluation has been supplemented by immunohistochemical staining for intermediate filaments. Although the association of tamoxifen therapy for breast carcinoma with the development of endometrial carcinoma is well known, this is, to the best of our knowledge, the first report of metastatic breast carcinoma to the uterus of a patient on tamoxifen therapy.

Aged

[Perineal injuries in complicated pelvic trauma].

Severe comminuted pelvic ring fractures are often associated by genitourinary and rectal injuries. Because of severe retroperitoneal bleeding, shock management has to be initiated before further diagnosis of the perineal lesions. If normotonic conditions cannot be achieved by volume replacement, a pelvic clamp is indicated providing immediate reduction of the posterior pelvic ring. A subsequent emergency laparotomy has to be considered if stable circulatory conditions cannot be achieved by these emergency procedures. After the initial management of the hypovolemic shock further examination of the rectum by endoscopy and endosonography is performed. Urethral lesions have to be excluded by ultrasound of the bladder, retrograde urethrography and intravenous urography. Urethral and bladder injuries can be initially treated by suprapubic fistula, whereas rectal and pararectal wounds have to be managed by immediate debridement, jet-lavage and wound drainage. Rectal wall and sphincter lacerations are initially restored by suture because delayed reconstructions have poor results. A deviation colostomy is mandatory in cases of colonic and rectal injuries about the internal sphincter.

Colon

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

BBB syndrome and G syndrome were originally reported as distinct X-linked disorders. Clinical studies indicated that BBB and G syndromes were likely to represent variant expression of the same disorder, now referred to as "Opitz" GBBB syndrome. Several occurrences of male-to-male transmission in both syndromes led to the hypothesis that GBBB syndrome was a single autosomal dominant, sex influenced disorder, now tentatively mapped to 5p12-13. We report on a large pedigree in which GBBB syndrome appears to cosegregate with a pericentric inversion of the X chromosome inv(X)(p22.3q26). It indicates the possible existence of a true X-linked form of GBBB syndrome, which does not appear phenotypically different from its autosomal counterpart. The gene could map in the vicinity of the breakpoints, in Xp or Xq. The existence of two genes affecting a common pathogenetic pathway could explain the gender-dependent expressivity of GBBB phenotype.

Abnormalities, Multiple

Overuse of the indwelling urinary tract catheter in hospitalized medical patients.

BACKGROUND: The indwelling urinary tract catheter (IUTC) is an important aspect of medical care. We studied the prevalence of the unjustified use of the IUTC in hospitalized medical patients and identified situations associated with its unjustified use. METHODS: This prospective study involved 202 patients admitted to either the medical intensive care unit (n = 135) or the medical floors (n = 67) of a tertiary care university hospital who were catheterized during the hospital admission. An independent observer assessed the indication of initial catheterization by chart review and interview with the patient and the nurse. The need for continued catheterization was assessed daily by the same observer. The proportion of unjustified IUTC placement was determined using the study guidelines. Complications as a direct consequence of catheter use were recorded. RESULTS: Of the 202 patients who were studied, the initial indication for the placement of an IUTC was found to be unjustified in 21% (95% confidence interval [CI], 15% to 27%). Continued catheterization was unjustified in 47% (95% CI, 42% to 57%) of 912 patient-days with IUTC studied. In the medical intensive care unit, 64% (95% CI, 58% to 70%) of the total unjustified patient-days with IUTC resulted from its excessively prolonged use for monitoring urine output. Urinary incontinence was found to be the major cause of unjustified initial ([52%] 95% CI, 32% to 74%) and continued ([56%] 95% CI, 50% to 62%) use of IUTC in the noncritical care areas. Catheter-related urinary tract infection requiring intravenous antibiotics or continuous bladder irrigation with amphotericin B was observed in 5% of the patients. CONCLUSIONS: The IUTCs are significantly overused in hospitalized medical patients and careful attention to this aspect of medical care may reduce catheter-related complications by primary prevention.

Catheters, Indwelling

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.

We report on a father and 2 children (a living 4-year-old girl and an aborted 18-week-old fetus) with a dominantly inherited form of mesomelic shortness of stature with severe ankle, knee, and elbow involvement. Skeletal abnormalities included brachymetacarpy and brachymetatarsy of the 3rd to 5th rays, synostoses in these bones, synostoses of metacarpals and metatarsals II to V with the corresponding carpal/tarsal bones, partial fusion in the proximal row of carpal bones, and mild vertebral anomalies. Father and daughter also had downslanted palpebral fissures, beaked nose, hypertelorism, ptosis, microretrognathia, and transverse agenesis of the soft palate. Abnormally short umbilical cord with unusually long skin coverage was present. Mesomelic shortness worsens with time, with progressive curvature of the forearm. This condition appears to represent a previously undescribed MCA/dysostosis syndrome.

Abnormalities, Multiple

Laparoscopic resection of a large hepatic tumor.

Increasing experience among surgeons and a proliferation of endoscopic instrumentation have allowed a greater number of intraabdominal organs to be approached laparoscopically. Procedures once delegated to standard open technique are now attempted laparoscopically with increasing success. The following case report describes the laparoscopic removal of a large segment IV liver tumor. A review of the literature shows this to be one of the most complex hepatic lesions to be removed laparoscopically to date.

Adenoma

Activation of area V5 by visual perception of motion demonstrated with echoplanar MR imaging.

Cortical activation in visual association areas known to be responsible for the perception of motion was investigated in two volunteers who viewed a projected animated cartoon periodically "run" and "frozen" during collection of echoplanar MR images. Ten axial, contiguous, 5 mm thick, T2-weighted, gradient-echo images (TE 40 ms, TR 3000 ms) depicting BOLD contrast were acquired through the occipital lobe using a GE Signa 1.5 T system with an advanced NMR operating console. Images were analysed by time series regression modelling estimating power in the MR signal at the ON-OFF frequency of motion. Highly significant activation in response to motion perception was identified in both subjects bilaterally in area V5.

Echo-Planar Imaging

Are there neurological and sensory risk factors for schizophrenia?

The association between left-handedness, epilepsy, and hearing impairment with schizophrenia was investigated using data from a cohort of 50,000 male Swedish conscripts linked to the Swedish National Register of Psychiatric Care. Though epilepsy was rare in this cohort, no association with schizophrenia was found. Left-handedness was associated with neither schizophrenia nor other psychoses. The study shows that, when studied from a population base, the apparent increase in neurodevelopmental anomalies in schizophrenia may be an artefact of bias. However, schizophrenia was 1.81 (95% CI 1.2-2.7) times higher amongst those with severe hearing loss, which may be preventable.

Adolescent

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

X-linked Alport syndrome (AS) associated with diffuse esophageal leiomyomatosis (DL) has been reported to be due to deletions removing the 5' ends of both the COL4A5 and COL4A6 genes, encoding the alpha 5 and alpha 6 chains of type IV collagen, respectively, whereas a variety of mutations in COL4A5 has been identified in patients with AS alone. Here we report three additional DL-AS patients who also display deletions removing the 5' ends of both COL4A5 and COL4A6 genes. Furthermore, we tracked the mutation in 15 females belonging to six DL-AS families by gene copy number determination. We found that, like AS, DL is transmitted as an X-linked dominant trait but, contrary to AS, DL is fully penetrant and completely expressed in females. These results are in agreement with our previous work suggesting that DL could be due to a dominant effect of an abnormal alpha 6 (IV) collagen chain. Finally, we have detected a similar deletion of the COL4A5 and COl4A6 genes in a DL affected female who showed no sign of nephropathy, demonstrating the AS carrier status of this DL patient. These results emphasize the importance of molecular analysis of female DL patients for genetic counseling.

Adult

Three glycosylated polypeptides secreted by several embryogenic cell cultures of pine show highly specific serological affinity to antibodies directed against the wheat germin apoprotein monomer.

Embryogenic tissues of Pinus caribaea Morelet var hondurensis produce extracellular proteins; among them germins have been identified. Two-dimensional electrophoresis followed by electroblotting onto a polyvinylidene difluoride membrane allowed isolation and N-terminal amino acid sequencing of extracellular GP111, which is present within the five embryogenic cell lines studied. The amino acid sequence showed strong homologies with the sequences of germins deduced from cDNA sequencing, starting at the same amino acid position but one, compared with other sequences of mature germins deduced from protein sequencing. Immunoblots of embryogenic and nonembryogenic extracellular proteins indicated that the polypeptide GP111 plus two others with similar relative molecular mass values are present in embryogenic cell lines but not in nonembryogenic ones. They were recognized by an antiserum raised against the nonglycosylated monomer of wheat germin. The cross-reaction between pine and wheat apoproteins was highly specific. An antiserum against the glycosylated pentameric germin-like protein (an oxalate oxidase) of barley cross-reacted with all three, as well as with several other glycosylated polypeptides.

Amino Acid Sequence

A case study of female genital self-mutilation in schizophrenia.

A case of deliberate genital self-mutilation in a woman with familial schizophrenia is presented. Such behaviour, though well recognized in females with severe personality disorders, is extremely rare in female psychotics. The genital mutilation may be partially understood as a consequence of delusionally motivated action against a background of low self-esteem, premorbid body-image preoccupation, forced early sexual activity and hence profound ambivalence towards adult sexuality. Dealing with this constructively was hampered by a cognitive style characterized by impaired reasoning and reality testing. Tests of reasoning, judgement and reality testing showed deficits, and computed tomography revealed dilatation of the left frontal ventricular system. Both neuropsychological and psychodynamic factors appeared to be of relevance in this case.

Adult

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly, and nail hypoplasia. Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. The radiological abnormalities are helpful in differentiating Pallister-Hall syndrome from the other syndromes in which hypothalamic hamartoblastoma is observed. This is of major importance for genetic counselling, since Pallister-Hall syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.

Abnormalities, Multiple