Biomedical subjects
Publications and source records attributed to J Hammer.
We report a 6-year-old boy with a positive family history of Huntington disease (HD), who presented with ambiguous neurological and psychiatric symptoms. The suspected diagnosis of HD was confirmed by DNA analysis. This new method is very helpful when the first signs of HD cannot be clearly interpreted.
Poly-p-dioxanon sutures (PDS) have been common in surgery as an absorbable material for years. After hardening by a particular procedure we use PDS pins as spacer material in interstitial I-125 implantations. The advantages of PDS are the mechanical qualities in contrast to catgut which causes hazards because of its soft consistency. PDS supports the efforts in optimization of seed distribution and dose application in interstitial radiotherapy.
A survey completed by 280 nonvolunteer, urban emergency medicine technician (EMT)-paramedics revealed high levels of occupational stress. We used a four-component model of occupational stress in medical environments to show indications that much variation in the manifestation of stress was accounted for by the rank and job description of the EMT-paramedic, the district served by the EMT-paramedic, and the patient population served by the EMT-paramedic. Stress exhibited by field EMT-paramedics tended to manifest in more negative attitudes toward patients, whereas administrative-level paramedics exhibited more organizational stress. We noted that the age of the EMT-paramedic and the length of time employed as an EMT-paramedic correlated with the level of occupational stress (P less than .05). The recent occurrence of significant life events also was significantly related to the level of stress (P less than .05). An EMT-paramedic's gender, marital status, and number of calls per shift had no significant correlation to the level of occupational stress. Based on these results, we recommend tailoring occupational stress programs to meet the needs of individual EMT-paramedics. Special attempts should be made to identify and counsel EMT-paramedics who are undergoing stressful life events. Finally, we suggest that rotating EMT-paramedics through various districts on a regular basis may help alleviate the negative impact on patient care in areas that have been identified as particularly stressful. Further studies are needed to verify our hypothesis.
We report a large family with an isolated case of Huntington's disease (HD), which is probably the result of a new mutation. The patient developed clinical signs typical of HD at the age of 36. The clinical course of the patient's disease is documented by several clinical admissions over a period of 14 years at present. The family history is strikingly negative with the parents having been clearly unaffected into their 80s and with 13 older and two younger, living, healthy sibs. Extensive testing of polymorphic markers (blood groups, red cell and serum proteins, HLA antigens) showed no indication of non-paternity, but rather gave strong support to the hypothesis that the proband is a full sib. In addition, DNA typing for several RFLPs known to be closely linked to the HD gene locus indicated that several clearly unaffected sibs share one or the other or both of the patient's haplotypes. This is further evidence in favour of the hypothesis of a new mutation at the HD locus. The posterior probability of a new mutation to HD in the patient exceeds 99%, even if an a priori probability of non-paternity of 10% and a mutation rate of HD of 10(-7) is assumed.
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Two families with two and four members, respectively, affected with the autosomal dominantly inherited popliteal pterygium syndrome (PPS), are reported. In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. One patient in addition had bilateral meatal atresia, a finding hitherto unreported in patients with this syndrome. In both families, one parent and in one, additional members were mildly affected, and both families include members with lip pits as the only manifestation of the PPS. This syndrome has to be considered in patients manifesting only lip pits with or without clefts.
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A literature review and pilot investigations reveal that (ward-) management consultation-liaison (C/L) psychiatry recommendations are infrequent and unsystematically used. Furthermore, the communication with the operational group as defined by Meyer and Mendelson is not sufficiently activated. The major focus of the consultation is the first contact, but follow-up is infrequent. With the exception of biologic recommendations and disposition, chart notes by psychiatric consultants do not sufficiently specify the actions to be taken by the ward staff in a general hospital. A schema for the systematic organization of the intervention was developed. A checklist of operationalized C/L interventions is reported. This combination provides a tool for the systematic use of strategic ward management and discharge recommendations. Its basic structure is currently integrated in MICRO CARES [Hammer et al, SCAMC]. The impact on clinical care, education, and research is described.
Multivariate analyses are used to examine stability and changes in the predictors of mental illness diagnoses with the introduction of a revised diagnostic system in the U.S. The impact of the shift from DSM II to DSM III is studied in three outpatient clinics. Among our findings is support for the relationship of income and gender to receiving the diagnosis of schizophrenia. This is found both under DSM II and the more behaviorally-based DSM III system. However, minority status, low education, and low income are predictors of the diagnosis of personality disorder under DSM II, but not with the shift to DSM III. These and other similarities and differences in the relationship between classic sociological variables and diagnosis that occur in the comparison of DSM III with DSM II are discussed. Particular attention is given the issue of "bias" in the diagnostic process.
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The discovery of linked DNA markers permits presymptomatic and prenatal diagnosis of autosomal-dominant Huntington's disease. However, family members born at 50% risk can find out if they have inherited the mutant gene only if family analyses are possible. Many individuals at risk lack a sufficient number of living relatives for presymptomatic testing. However, prenatal exclusion testing in pregnancy can be offered to most probands. In four case reports we demonstrate the first clinical use of these markers for genetic counselling in Switzerland. The method was used for both presymptomatic testing and prenatal diagnosis. Prenatal exclusion testing is described in one family. The general practitioner should be informed of the potentialities of DNA technology, since competent advice to his patients and follow-up of positive probands are part of his duties.
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After a 4 years experience with the conventional retropubic operative free-hand technique the implantation procedure has been modified. For local therapy the volume of the prostate is measured endosonographically and biopsies are taken from defined areas of the prostate under transrectal ultrasonographic guidance using a puncture attachment (prostate mapping). According to the data of volumetry and pathology the brachytherapist calculates number and precise location of the seeds, which are inserted in a second procedure after diagnostic lymphadenectomy percutaneously and transperineally under ultrasonographic guidance with a afterloading technique. Since 1984 24 patients has been treated in this manner. Implantation procedure is described, preliminary clinical results are presented and the percutaneous technique is compared with the retropubic operative approach. The percutaneous, transperineal and ultrasonically guided 125Iodine implantation represents an alternative procedure to the radical prostatectomy and gives a good local tumor control in prostatic carcinoma with minimal side effects.
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