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Twenty-one patients with varicose vein incompetence of the legs have been treated with the TriVex system (Smith & Nephew, Andover, MA, USA). The technique is designed for treatment of local varicosities to provide a good cosmetic result (remaining varicosities and pigmentation) and less morbidity (pain and loss of work days). These parameters showed good results with few remaining varicosities and pigmentations. Reasonable number of days out of work and moderate pain. Eighteen of the 21 patients had an overall good outcome with no complaints.

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In longstanding venous ulcers, the development of lipodermatosclerosis of the skin surrounding the ulcer is common. According to our clinical experience lipodermatosclerosis impairs the opportunities for the ulcer to heal. In this combined retrospective and prospective study the lipodermatosclerotic skin area was excised in 7 non-healing venous ulcers and then covered with split skin graft. All 7 legs had previously been treated with superficial venous surgery. Laser Doppler scanning of the ulcer area was performed pre- and postoperatively. Five of the 7 ulcers healed within 4 months and 1 healed within 9 months. Laser Doppler scanning showed increased blood flow in the lipodermatosclerotic skin area, which was decreased after the operation. This study indicates that excision of the lipodermatosclerotic skin area followed by split skin grafting can accomplish healing in non-healing venous leg ulcers that have failed to respond to previous superficial venous surgery.

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BACKGROUND: To evaluate the benefit from external support valvuloplasty in chronic deep vein incompetence of the legs. DESIGN: prospective study. PATIENTS: twenty patients 7 primary and 13 secondary (post-thrombotic), with severely symptomatic deep vein incompetence (DVI) of the legs. Preoperative duplex sonography, videophlebography with ambulatory venous pressure measurement. Surgical treatment with external support valvuloplasty with Venocuff (Vaso Products Inc., Sommer-ville, NJ, USA). Postoperative clinical follow-up, duplex and pressure measurements. RESULTS: In primary DVI, symptoms disappeared in all 7 patients, and in secondary DVI in 7 of 13 patients. All reconstructions were competent in primary DVI and in 10 out of 13 in secondary DVI. The follow-up period averaged 19 (6-32) months in primary DVI and 18 (5-31) months in secondary DVI patients. CONCLUSIONS: In severely symptomatic deep vein incompetence of the legs external support valvuloplasty is effective, especially in primary DVI. In secondary DVI the competence of the reconstructions was 78% and the symptoms disappeared in 52%. This means that external valvuloplasty is indicated even in post-thrombotic patients.

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Using the genealogical method on both classical and atypical cases of Rett syndrome (RS) the assumption that atypical RS are true variants of the classical or nuclear group of RS was investigated. Also common ancestry, common geographical origins, and consanguinity were investigated. The pedigrees of 96 classical and 32 atypical ("forme fruste") RS individuals were examined. None of the RS females was born to first-cousin couples, but 7.3 +/- 1.9% of the classical and 6.6 +/- 3.2% of the atypical RS females had grandparents who were consanguineous. Eleven or 34% of the atypical RS females and 49 or 51% of the classical RS females could be traced to the same small, separate "Rett area". Furthermore, no less than 6 (19%) of the atypical and 28 (29%) of the classical RS females had originated in the same homestead as another RS female examined by us. Nineteen of the explored pedigrees of RS females belonged to 8 pedigrees. The pedigrees contained a mixture of typical and atypical forms of RS indicating that many or most of the variants of RS and the classical types have a common genetic background. The data gathered suggest that transmission starts with a premutation that can result over generations in a full mutation giving rise to RS. Both the X-chromosomes and an autosome pair of chromosomes may be involved.

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The live-born full siblings of 121 presumptive carriers of Rett syndrome belonging to eight pedigrees were examined as to sex ratio at birth. A total of 394 such siblings born in the period 1757-1966 were identified. 183 (46.4%) of them were male and 211 (53.6%) female, i.e., significantly fewer than in the average Swedish population (p = 0.03) were male. Our findings support the existence of one or more lethal alleles causing Rett syndrome.

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OBJECTIVE: To establish sex and age related reference values for venous strain-gauge plethysmography. DESIGN: Strain-gauge plethysmography measurements in healthy volunteers. SETTING: Examinations performed in a University Hospital (Malmö) and a County Hospital (Kalmar). PARTICIPANTS: Healthy volunteers, without history or signs of venous insufficiency. Twenty-seven men, 31 women, age range 15-74 years. MAIN OUTCOME MEASURE: Refilled volume (RV;ml/100 ml tissue), half refilling time (T50;sec), and refilling time to 90% of RV (T90;sec). RESULTS: RV; lower limit 0.6 ml/100 ml tissue. T50; lower limit 3.3 sec T90; lower limit age dependent and calculated from the ekvation: In (T90) = 3.864-0.0111 age-0.337, where in is the natural logarithm. Methodological error: RV (15%), T50 (28%), T90 (23%). CONCLUSIONS: Strain-gauge plethysmography can be used to evaluate venous insufficiency and could be especially useful in follow-up studies after therapy. Normal age and sex related reference values are needed. In this study reference values are established. Preferably RV and T90 should be used.

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AIMS OF THE STUDY: By using genealogical methods in atypical females with Rett syndrome (RS) we looked for support for the assumption that atypical RS cases are true variants of classical RS. SUBJECTS: We selected from the Swedish national RS series the "milder" RS cases, 10 years of age and older, fulfilling the criteria for the "forme fruste" (FF) type of RS. For 32 FF cases we were able to carry out complete genealogical analyses on 61 parental lines. The pedigrees contained details of about 3200 ancestors. COMMON GEOGRAPHICAL ORIGINS: Eleven (34%) of the FF females could be traced to a previously defined "Rett area" and no fewer than six females had their origin in the same homestead as another previously examined classical RS patient. ANCESTRY: In four pedigrees, two each contained one FF and two classical RS and two each contained one FF and one classical RS, all 10 being descendants of the same four couples who lived several generations ago. CONSANGUINITY: Consanguinity in four grandparents (6.6% (SD 3.2%)) is probably a higher frequency than in the average Swedish population and supported our findings from a series of classical RS. TRANSMISSION: The data indicate that transmission starts with a premutation that over generations can result in a full mutation giving rise to RS. Both the X chromosomes and a pair of autosomes may be involved. CONCLUSION: Many, or most, atypical FF cases are true variants of RS.

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A previous genealogic study on classical Swedish Rett syndrome (RS) females documented an increased rate of common ancestry, with a high percentage originating generations ago in the same homestead. The present study, an a priori test of the first study, examines an additional 20 RS females, who were consecutively traced. Of these, no fewer than 10/19 (53%) originated from earlier defined "Rett areas": 11/19 (58%) could even be traced to the same homestead. In two clusters, each consisting of three RS females, all six subjects were descendants of the same two couples several generations ago. Consanguineous marriages among grandparents on both sides were found to have occurred in 11% (4/37), i.e. significantly more frequently than in the average Swedish population (1%). The results of this second study confirm all points of the first. A clinical analysis of cases with common ancestral origin underlines the phenotypical variability which is often seen in interrelated RS females. We conclude that RS can appear in either its classical form or as a variant. Our genealogical data may indicate transmission starting with a premutation that over generations can result in a full mutation, probably when the parents have the premutation in a homozygous form.

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In a Swedish survey, leg ulcer disease has been found to have a prevalence of around 1%. The multifactorial etiology requires a multidisciplinary approach. Forty-three patients with leg ulcers have been examined clinically and by pathophysiological and roentgenological investigations. Proper conservative treatment was instituted in 25 of the patients, and the remaining were treated by venous surgery, arterial surgery and skin transplantation. The previously used therapy only achieved healing in 23% of these patients, but after multidisciplinary assessment and treatment the healing rate was improved to 83%. The ulcer-free period of the whole group was 62% during a follow-up of 24 (3-36) months. The healing of venous ulcers can be improved by a multidisciplinary assessment by a vascular surgeon and a dermatologist.

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Neurofibromatosis type 1 (NF1) is a genetic disease with an extremely wide range of manifestations. As yet, the individual course of NF1 cannot be predicted, and it is uncertain to what extent the disorder is associated with increased mortality. In order to gain insights into these aspects, we have conducted a 12-year follow-up study of 70 adult NF1 patients in the city of Göteborg, Sweden, whereby life expectancy, mortality, causes of death and the prognostic value of clinical findings were investigated. Clinical examinations were made, and all available records, including medical files, death certificates, and autopsy reports were scrutinized. The survival in the NF1 cohort was compared to that in the general Swedish population. Twenty-two deaths occurred in the NF1 group, whereas 5.1 deaths were expected in the general Swedish population (p = < 0.001). The mean age at death was 61.6 years. Malignancy was found in 12 (55%) of the deceased (soft tissue sarcomas in 3, and carcinomas in 9). Severe complications related to NF1 were seen in 27%. Hypertension was significantly associated with increased mortality, as 10 out of 12 (83%) patients with hypertension died during the observation period. NF1 was associated with increased mortality due to malignancy and NF1-related complications.

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A series of 77 Swedish females with classical Rett syndrome were genealogically traced as far back as possible, in most cases to 1720-1750, or 7-10 generations. Details were collected concerning approximately 8,000 ancestors. Common ancestry was seen in 2 pairs of females with Rett syndrome. Thirty-nine of the 77 Rett females were traced to 9 small and separate rural areas, and 17 pairs even came from the same farm or homestead. The common origin was found equally often among descendants of the father as of the mother. In 9 cases, the father came from one and the mother from another of the 9 specific "Rett areas." These observations, combined with the finding of a raised rate of consanguineous marriages in the paternal as well as in the maternal ancestry, point to a genetic transmission. Analyses of parental ages at birth and of birth order gave normal results.

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Forty-one patients with acute iliofemoral venous thrombosis were randomised to conventional anticoagulation or acute thrombectomy combined with a temporary arterio-venous fistula (AVF) and anti-coagulation. Follow-up after 5 years in 22 medical and 19 surgical patients revealed slightly more asymptomatic patients (37 vs. 18%) and less frequent severe post-thrombotic sequelae (16 vs. 27%) in the surgical group (N.S.). The iliac vein was more frequently (P less than 0.05) normal following thrombectomy (71 vs. 30%) as demonstrated by radionuclide angiography, but occlusion plethysmography showed an outflow capacity (61 vs. 45 ml/min/100 ml) that was not significantly better. There was no obvious difference in muscle pump function (EVrel) and reflux (Q/EVrel) assessed by foot volumetry. Still, the ambulatory venous pressure was significantly (P less than 0.05) lower in the surgical group. There was a tendency towards better results following thrombectomy in patients with fresh thrombosis and a successful initial procedure. Although the numbers of observations in many cases were too small to provide statistical evidence of benefit with venous thrombectomy + AVF, this procedure seems to improve the long-term outcome following acute iliofemoral venous thrombosis. Since the difference in outcome is not very striking, anticoagulation treatment is still an acceptable alternative.

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To determine the chronological changes of venous physiology following major thromboses, 20 patients were repeatedly examined for over 5 years after an acute ilio-femoral thrombosis which was treated with conventional anticoagulation. Radionuclide angiography showed that 70% of the patients had obstructive lesions of the iliac vein with only minor changes occurring from 6 months to 5 years. In spite of this, the plethysmographic maximum venous outflow increased from 31 to 45 ml/min/100 ml (P less than 0.001). The foot volumetric reflux did not change with time and about half of the patients had abnormal values. Venous reflux assessed by the refill time of foot vein pressure, deteriorated with time (P less than 0.05), and at 5 years all but one patient had a refill time less than 20 s. The muscle pump function, examined by foot volumetry, was abnormally low in about half of the patients throughout the study. The ambulatory foot vein pressure was constantly pathological (greater than 60 mmHg) in half of the patients and only two of 18 patients had normal values (less than 45 mmHg) at 5 years. Five patients with thromboses involving only the proximal veins had better physiological results than 15 patients with thromboses that extended to the peripheral veins. Three patients who developed venous claudication had iliac vein obstruction and an impaired venous outflow and three patients who developed venous ulcers had venous reflux and severe venous hypertension. Although venous outflow continuously improves following ilio-femoral thromboses, valvular competence and muscle pump function are constantly pathological, creating severe venous hypertension with a risk of post-thrombotic sequelae.

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The genetic analysis undertaken here shows that the direct (i.e. proband) method for calculating risk figures is not readily applicable to von Recklinghausen neurofibromatosis (NF-1); the selection of available sibling groups for analysis becomes biased in various ways, primarily because of the wide phenotypic variation of the disease. However, indirect methods of analysis confirm that NF-1 shows autosomal dominant inheritance with full penetrance. The existence of an unusually high mutation frequency is also confirmed. In this study it is estimated to be between 4.3 x 10(-5) and 6.5 x 10(-5). However, in contrast to the findings of others, among sporadic cases, both their distribution within sibships and parental ages at delivery did not differ from random distributions. An assessment of the degree of severity of NF-1 and comparisons of the sporadic cases with the familial cases produced no evidence of any clinical somatic differences between the two groups, likewise for psychiatric evaluations of the two groups. Apart from 2 cases with non-NF-1 segmental forms of NF, it was not possible to distinguish alternative forms of NF among the sporadic cases. A pair of monozygotic twins with NF-1 is discussed with reference to the nature and localization of their respective tumours, which are not identical, indicating the influence of factors beyond the mutant NF-1 gene itself on the manifestations of the disease. In a genealogical study involving about 3,000 ancestors of patients from Gothenburg with known NF-1, families with common ancestors were not found, nor was it possible to demonstrate a tendency to clustering in one geographical area or isolated locality.

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Radionuclide angiography (RNA), was compared to contrast phlebography (CP) for evaluation of iliofemoral venous patency. Twenty-three patients that six months earlier had been treated for iliofemoral venous thrombosis were investigated. The reproducibility of RNA was good as the interindividual and intraindividual variation was 80-85% and 90-95% respectively. The sensitivity of RNA was 91% in the iliac and 65% in the femoral segment. The specificity was 78% in the iliac and 74% in the femoral segment. The advantages as compared to CP are: easy performance, easy to repeat, no adverse reactions and visualization of the whole venous system. The disadvantages are: e.g. difficulties in interpretation in bilateral disease or abnormal anatomy. RNA is recommended as a screening method for suspected iliac venous obstruction and for follow-up of venous patency after iliofemoral venous thrombosis.

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