Phenotypic variability of a distinct deletion in McLeod syndrome

The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society     

Der modifizierte erweiterte distal gestielte sapheno-fasziokutane Suralislappen

Zusammenfassung Nach Verifikation der anatomischen Voraussetzungen wurde eine modifizierte Technik des erweiterten saphenofasziokutanen Suralislappen für große kombinierte Knochen-Weichteil-Infekt-Defekt-Situationen sogenannte Typ-C-Läsionen bei Risikopatienten mit ersatzschwachem bzw. ersatzunfähigem Lager (traumatische ipsilaterale arterielle Hauptgefäßläsion, tiefe ipsilaterale Venenthrombose, diabetische Polyneuropathie mit Mikroangiopathie bzw. PAVK Stadium 3) in einer prospektiven Studie angewendet. Zehn Weichteildefekte zwischen 80–180 cm² im Mittel-Rückfuß- bzw. distalen Unterschenkelbereich wurden einzeitig komplett mit einem retrograd gestielten modifizierten saphenofasziokutanen Suralislappen aus dem proximalen Unterschenkel gedeckt. Alle Lappen heilten ohne Lappennekrosen ein. Die Entnahmestellen wurden siebenmal mittels primärer Naht und dreimal einzeitig mit Meshgraft verschlossen. Bei der Nachuntersuchung aller Patienten nach im Mittel 22 Monaten bestanden vitale Lappen, keine Hebedefektmorbidität, kein Suralisneurom und es war kein sekundäres Debulking oder andere lappeninduzierte Revisionen erforderlich.     

Growth hormone responses to growth hormone-releasing hormone and clonidine in patients with type I diabetes and in normal controls: effect of age, body mass index and sex

OBJECTIVE  Increased plasma concentrations of GH and increased GH responses to provocative stimuli are reported in patients with poorly controlled type I diabetes and are suggested to be related to complications. Our aim was to investigate GH concentrations in moderately controlled patients.
PATIENTS AND MEASUREMENTS  We have investigated IGF-I concentrations and fasting GH concentrations and the response to 1 μg/kg body weight GH-releasing hormone (GHRH) intravenously and/or to 150 μg clonidine intravenously in 77 moderately controlled patients with type I diabetes and in 46 healthy controls.
RESULTS  Median HbA1c in the patients was 8.5% (upper level of normal 6.3%). Fasting GH and GH concentrations after the administration of GHRH were not significantly different in patients with type I diabetes compared with normal controls. Fasting and stimulated GH concentrations after the administration of clonidine were significantly higher in the patients, but this could be explained by their lower age and body mass index compared with controls. In controls but not in patients there was a negative correlation between GH and glucose concentrations. IGF-I was significantly lower in patients with diabetes than in controls, even after correction for age, body mass index and sex.
CONCLUSIONS  Patients with moderately controlled type I diabetes mellitus have normal baseline and stimulated GH concentrations after the administration of GHRH or clonidine compared with healthy controls, when corrected for age, body mass index and sex. However, these 'normal' GH concentrations must be considered inappropriately high in view of the hyperglycaemia in these patients. The low plasma IGF-I concentrations might be responsible for the GH over-production.     

Evaluation of postsurgical crestal bone levels adjacent to non‐submerged dental implants

In most of the studies on long-term radiographic evaluations of crestal bone levels adjacent to dental implants, no baseline radiographs taken immediately post-surgically had been obtained.The aim of this study was to test the reproducibility of a simple radiographic method for linear measurements of changes in bone levels and to evaluate changes in crestal bone levels adjacent co non-submerged ITI® implants 1 year following the surgical procedure. From 128 patients enrolled in a clinical and radiographic longitudinal study 40 patients also had radiographs taken immediately postsurgically. They were, however, not obtained as “identical” images. The radiographs were mounted onto slides and projected on a screen. Mesially and distally from 57 implants triplicate linear measurements of the distance implant shoulder to bone crest were taken, using known dimensions of the implants as internal reference distances. The median difference of 213 (out of 228 possible) duplicate measurements was 0.00 mm (ranging from ?1.72 mm to +1.47 mm when comparing the second co the third reading). Some 81% of the double measurements were within ±0.5 mm and the precision was 0.30 mm. In the immediate postoperative radiographs the median mesial bone level was located at 2.07 mm (distally 2.19 mm) from the implant shoulder. A statistically significant amount of bone loss in the first year was observed mesially (median=?0.78 mm) and distally (0.85 mm)(Wilcoxon matched pairs signed rank test ±0.001). No statistically significant influence of the implant location, the implant length, type of the implant (screw; cylinder) was observed (Kruskal-Wallis P>0.05).The age of the patients was not correlated significantly to the amount of bone loss observed. In conclusion, methodological limitations existed when evaluating linear bone changes in non-identical radiographs using reference dimensions of the implants. The amount of postsurgical bone loss estimated in other studies was confirmed when using an immediate postoperative radiograph as a baseline.     

Aspergillus brain abscess. A case report

The history and findings in a patient with erythroleukaemia who developed a fungal brain abscess during the agranulocytic phase of induction treatment is reported. The radiological features of fungal infection are reported, with emphasis on the importance of clinical judgement in making the diagnosis. The autopsy findings further illustrate the increasing importance of this previously very rare condition.     

Markers of immunologic injury in progressive alopecia areata

In a selected group of 8 patients with progressive alopecia areata (AA) leading to AA universalis, immunological aspects (in the peripheral blood and the tissue) were studied during the period of the intitial attack of the disease. The peripheral T-cell helper/suppressor ratio appeared not to be a reliable parameter for the disease activity. The intrabulbar and peribulbar distribution of T-cells, Langerhans cells and of HLA-DR expression in and around the anagen hair follicles in the progressive areas of the disease (region of exclamation-mark hairs) may suggest a T-cell-mediated injury primarily in the peribulbar regions of the follicles. The data presented tend to support the possibility that in the early development of AA, the dermal pailla (capillary network?) may be the prime target of immunologic injury.     

Contribution of glucose tolerance and plasma insulin levels to the relationships between body fat distribution and plasma lipoprotein levels in women.

Numerous interrelated metabolic and morphological variables such as plasma insulin levels, glucose tolerance and abdominal obesity are associated with changes in plasma lipoprotein levels. The present study was undertaken to differentiate, using a multivariate approach, the respective contributions of plasma glucose and insulin levels, obesity and regional adipose tissue distribution to the variance in plasma lipoproteins. The study group was composed of 69 healthy premenopausal women (age 35.4 +/- 5.0 years (mean +/- s.d.); percent body fat 40.7 +/- 10.1). Indices of carbohydrate metabolism showed significant univariate correlations with triglyceride (TG) and/or cholesterol (CHOL) content of plasma VLDL, LDL and HDL (P less than 0.05). Multivariate analyses indicated that the explained variance in plasma VLDL-TG (R2 x 100 = 44 percent, P less than 0.05) and LDL-apoprotein (apo) B levels (R2 x 100 = 33.1 percent, P less than 0.08) was entirely accounted for by indices of carbohydrate metabolism and body fat distribution, whereas total body fatness added no significant contribution to these models. Multivariate analyses also revealed that the best possible regression model to predict the variation in plasma HDL2-CHOL levels only included computed tomography-derived deep abdominal adipose tissue area (P less than 0.0001). All other variables were unable to further improve the explained variance in plasma HDL2-CHOL levels. In partial correlation analyses, indices of carbohydrate metabolism and the waist-to-hip circumference ratio (WHR) remained significantly correlated with plasma VLDL-TG and LDL-apo B levels after adjustment of VLDL-TG and LDL-apo B for either insulin and glucose levels, or for the WHR (P less than 0.08). After correcting for deep abdominal fat accumulation, no significant correlation was observed between indices of carbohydrate metabolism and plasma HDL2-CHOL levels whereas deep abdominal fat showed significant correlations with HDL2-CHOL levels (P less than 0.05) after correction for indices of carbohydrate metabolism. These results suggest that both disturbances in glucose-insulin homeostasis and abdominal obesity are significantly associated with changes in plasma VLDL-TG and LDL-apo B levels and that these associations are partly independent from each other. These results also indicate that mechanisms other than disturbances in glucose homeostasis and hyperinsulinemia are responsible for the association between the level of deep abdominal fat and plasma HDL2-CHOL levels.     

Thoracoscopic wedge resection

Summary Thoracoscopic surgery is decidedly expanded by the ability to perform pulmonary wedge resections of the lung by using the Endo-GIA-stapler. In addition to thoracoscopic biopsies, since July 1991 we have carried out wedge resections in 12 patients suffering from spontaneous pneumothorax (nine) or peripheral bronchial carcinoma (three). Postoperatively one air fistula persisted over 9 days. The chest tube was removed within 48 h in all other patients. There was no other major complication. The postoperative hospitalization period lasted 4.6 days (1–9 days). Operating time was 44 min (30–70 min). The benefit for the patient consists in the little-impaired breathing mechanics, the short hospital stay, and the favorable cosmetic result.     

Thrombogenicity of metallic vascular stents in arteries and veins--an experimental study in pigs

Endovascular expanding metallic stents were percutaneously implanted in the iliac arteries and veins of pigs. The vessels had been stenosed by a ligature of catgut 4 weeks prior to this. Platelets were labeled with Indium 111 and the deposition onto the dilated and stented areas was dynamically registered for 240 min with a scintillation camera. All six arterial and six venous stents remained patent throughout the examination period. At the site of arterial stenting there was an increase, of deposited activity, and in the veins a decrease. These experimental findings support the use of endovascular stents after dilation, especially in venous stenoses.