Lymphangiosarcoma in late-onset hereditary lymphedema: Case report and nosological implications

Hereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non-syndromic hereditary lymphedemas are categorized by their age of onset, being either congenital (Milroy disease) or having an onset in childhood or around puberty (Meige disease). We describe a family in which three individuals in three generations had unusually late onset of lym-phedema in their mid-twenties or thirties. The proband additionally developed a very rare lymphangiosarcoma. This tumor, usually associated with post-mastectomy lym-phedema, has not been described in late-onset hereditary lymphedema. Because of an unusually high incidence of multiple primary tumors in association with lymphangiosarcoma in the literature (approximately 10%) and the proband's own familial cancer background, we speculate that an inherited predisposition to malignancy may underlie the development of lymphedema-associated lymphangiosarcoma. © 1995 Wiley-Liss, Inc.     

Back pain from the epidemiological point of view

Summary In the last decades back pain has reached dramatic proportions in industrialized countries. Disorders of the back are nowadays the leading cause of direct and indirect health care costs. Accurate prevalence estimates are needed to serve as a basis for health care evaluations. A review of epidemiologic studies in the general population reveals that back pain has reached a prevalence of 40 % for current pain. 7 to 18 % are “frequently”, “often”, “daily” or “constantly” affected. 75 % of the adult population suffers from back pain during the last year. 80 to 90 % of the adult population in industrialized countries experience back pain ever. Gender specific differences are only present in severe, chronic forms which are more often experienced by women. Back pain has a prevalence maximum at 50 to 64 years. Older persons display lower prevalence estimates. The prevalence maximum in men is one decade earlier than in women. There are several potential explanations for this prevalence pattern that are discussed in the article. Back pain can be classified by location, temporal characteristics, pain intensity and pain history. Currently, for none of these dimensions generally accepted, uniformly employed and validated definitions are available. In most of the industrialized countries back pain is one of the most expensive symptoms. 75–90 % of the direct and indirect health care costs were caused by those 5–10 % of patients who are disabled. As predictors of back pain a history of back pain and job satisfaction play by far a more important role than the extensively studied mechanical factors. For a first episode of back pain the prognosis is favorable. If the pain persist for more than three months the prognosis is unfavorable. After six months of absenteeism because of back pain more than half of the afflicted never return to work. Rarely back pain is present as a single symptom. In more than 80 % back pain is associated with pain in at least one joint. It remains to be studied if back pain may be viewed as an entity or as part of a more complex pain syndrome.      

Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.

We conducted a case-control study of the alpha-synuclein-interacting protein gene (SNCAIP, also known as synphilin-1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5' terminal of exons 1, 4, and 6. None of the variants were found associated with PD overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the alpha-synuclein gene (SNCA) or the parkin (PARK2) gene.     

Restless legs syndrome in Parkinson's disease: a case-controlled study.

Restless legs syndrome (RLS) is a disorder of motor activity with a circadian pattern, occurring frequently in patients with Parkinson's disease (PD). We sought to estimate the prevalence of RLS in Indian PD patients. One hundred twenty-six consecutive PD patients and 128 healthy age- and sex-matched controls were evaluated using a predesigned questionnaire. RLS was present in 10 of 126 cases of PD (7.9%) and 1 of 128 controls (0.8%, P = 0.01). PD patients with RLS were older than those without RLS (63.70 +/- 7.80 years vs. 57.37 +/- 10.04 years; P = 0.05) and had higher prevalence of depression (40% vs. 10.3%; P = 0.023). No demographic factors or factors related to PD correlated with the presence or severity of RLS. RLS is more common among patients with PD than controls. A greater medical recognition of this disorder is needed in view of available effective treatment.     

Alzheimer's disease: identical phenotype of familial and non-familial cases

Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed.     

Anal Tonometry in the Neonatal Period for the Diagnosis of Hirschsprung's Disease

ABSTRACT. A double balloon technique was used for anal tonometry in 22 infants. The weight was less than 2500 g in 10 of the infants. Ileus or delayed passage of meconium was seen in 9 infants. Thirteen infants had not revealed any symptoms of intestinal obstruction during the first week of life. In all cases, except one, it was possible to demonstrate reflexes from the internal anal sphincter. In 18 infants normal curves were registered from the internal anal sphincter. None of these developed Hirschsprung's disease. In 3 infants a pathological pattern of contractions of the internal anal sphincter was demonstrated. Two of them proved to have Hirschsprung's disease. In the third case normal reflexes were registered after one year. Possibly the innervation of rectum and the internal anal sphincter was disrupted during the neonatal period in connection with enterocolitis and ileus, thus representing a reversible case of achalasia.     

Evaluation of a screening test for detection of IgA antigliadin antibodies in coeliac disease

The reliability of antigliadin antibodies of IgA and IgG classes for the diagnosis and follow-up of coeliac disease was evaluated by ELISA tests. Forty coeliac patients, 41 patients with other gastrointestinal diseases and 50 healthy subjects were studied. IgA antigliadin antibodies were detected in all patients on unrestricted diet and in those on a challenge with a gluten-containing diet. A low incidence of positivities was found in patients on a gluten free-diet, while no positivity was found in controls or gastrointestinal patients. IgG determination, in contrast, showed poor specificity. Our data suggest that a positive IgA antigliadin test may be a reliable marker for the presence of active coeliac disease, which should be confirmed by intestinal biopsy; it is, moreover, a good marker for monitoring patients, since elevated values might suggest non-compliance with the diet.     

BUERGER'S DISEASE IN HONG KONG: A REVIEW OF 89 CASES

Background : A retrospective analysis of 103 case records from 1978 to 1996 with a provisional diagnosis of Buerger's disease was undertaken at the Department of Surgery, University of Hong Kong, Queen Mary Hospital. The aim of the study was to elucidate the clinical course and evaluate the results of surgical intervention of Buerger's disease in Hong Kong Chinese people. Methods : Fourteen patients were subsequently excluded from the study because of inability to fulfil our diagnostic criteria. Data on clinical presentation, investigations, indications and results of surgical intervention were reviewed. Sympathectomies and arterial reconstructions were performed on 42 and four patients, respectively, for critical ischaemia or rest pain. Outcome was analysed with respect to the rate of ulcer healing, pattern of recurrence and limb loss. Results : The patients were all young male heavy smokers with a mean age of 36.5 years. The majority of patients (80%) presented with ischaemic ulceration or gangrene. Vascular reconstruction was undertaken in four patients and satisfactory long-term results were obtained in three patients. Sympathectomy was able to relieve symptoms in 87% of operated patients and ischaemic ulceration healed in 2.6 (mean) ± 1.7 (SD) months after the operation. If the patient continued to smoke, surgical intervention did not exempt the patient from a relapse or amputation. Conclusion : Sympathectomy provides short-term pain relief and promotes ulcer healing in patients with Buerger's disease but carries no long-term benefit. Complete abstinence from smoking is the only means of arresting the progression of the disease.     

Endolymphatic sac surgery: analysis of 100 operations*

One hundred endolymphatic mastoid shunt operations in 89 patients with classical Menière's disease were analysed. The disease was bilateral in 18 patients (20%). The patients were carefully pre-selected by a comprehensive protocol of audiovestibular and metabolic investigations. All patients had definite electrophysiological evidence of endolymphatic hydrops with an enhanced negative summating potential on transtympanic electrocochleography. The surgical results were analysed both by the original American Academy of Ophthalmology and Otolaryngology Guidelines (AAOO, 1972) and the more recent modifications of the American Academy of Otolaryngology, Head and Neck Surgery (AA-HNS, 1985). Control of the vertigo was achieved in 81% of the patients overall, in 88% of the patients with unilateral disease and in 63% of the patients with bilateral disease. A significant hearing improvement was obtained in 19% of patients, no change in 55% and hearing became worse in 26%. Tinnitus improved in 38% of patients, was unchanged in 52% and became worse in 10%. Disability was assessed and there was no disability in 44% of the patients post-operatively, some degree of disability in 48% but only 8% were severely disabled and unable to sustain gainful employment.     

Evaluation of portal MR angiography using superparamagnetic iron oxide

The purpose of our research was to determine the effects of superparamagnetic iron oxide on MR imaging of the portal venous system. Eight piglets were examined in deep anaesthesia and respiratory arrest using a time-of-flight magnetic resonance fast low angle shot, two-dimensional angiography sequence at 1.5T. MR angiograms were acquired precontrast and after intravenous administration of a cumulative dose of 10, 20 and 40 μmol/kg SHU 555A, a superparamagnetic iron oxide contrast agent for MR imaging with a particle size of 60 nm. For each dose, two subsequent sets of scans were obtained and reconstructed by a maximum-intensity-projection algorithm. Hepatic parenchymal and portal venous signal intensities were measured, and portal vein contrast calculated for each set of scans. All examinations were visually rated as to portal vein contrast and homogeneity by two blinded observers. Receiver operating characteristics of both observers were analyzed. The contrast agent reduced hepatic parenchymal signal in a dose-dependent way. After a cumulative dose of 10 μmol iron oxide, hepatic parenchymal signal intensity decreased to 63 ± 6% (average of measurements at 4 and 14 minutes, mean ± standard error of the mean), after 20 μmol to 24 ± 3%, and after 40 μmol to 12 ± 1% of control. Intra-vascular signal in the left main portal vein branch increased to 117 ± 6%, 127 ± 10%, and 133 ± 9% of control, respectively. The contrast-to-noise ratio of the portal vein improved (521 ± 90%, 891 ± 178%, and 995 ± 201% of control in the left portal vein main branch). Intravascular signal intensities increased slightly. The combined effect improved contrast of the portal vein stem and its branches. Receiver operating characteristics analysis documented dose-dependency of contrast medium effects on portal venous contrast and intravascular homogeneity. Visual rating also indicated a positive effect on portal venous contrast. The superparamagnetic iron oxide agent improved portal venous contrast with surrounding hepatic parenchyma in this normal animal model, and could potentially result in more accurate diagnosis of portal venous pathology.