Gastric leiomyoblastoma. Description of a clinical case

The paper describes a case of gastric myoblastoma, a rare tumour of the smooth musculature most commonly found in the stomach but also encountered outside the digestive tract. The tumour is potentially malignant and the occasional malignant forms feature histologically a large number of clearly atypical mitoses and clinically an aggressive pattern often involving even widespread metastasis. The case presented is that of a 73 year old woman given a Billroth I gastric resection who was in perfect health 7 months later despite the findings of a myoblastoma with some signs of enhanced mitosis.     

Tibial plateau fractures in elderly patients

Tibial plateau fractures are complex injuries which, if not adequately treated, can lead to invalidating sequelae. They constitute on average about 1% of all fractures, and up to 8% in patients over 65 years, and can be caused by both high- and low-energy trauma. Unlike in younger subjects, treatment of tibial plateau fractures in the elderly is not univocal and depends on the patient’s functional needs, bone quality and systemic comorbidities. In this retrospective study, 49 patients with a mean age of 72 years, who underwent surgical treatment of a tibial plateau fracture, were assessed by the Rasmussen’s clinical and radiological grading systems. Clinical and radiographic outcomes were satisfactory in 75.5 and 59.1% of cases, respectively. Data were also analyzed, in terms of fracture type, age and gender, to detect any statistically significant correlation between these parameters and clinical and radiographic outcomes.     

Non-O blood type is the commonest genetic risk factor for VTE: results from a meta-analysis of the literature

It is well known that the ABO blood group exerts a major influence on hemostasis, as O blood group individuals have lower von Willebrand factor and factor VIII levels than non-O blood group subjects. To evaluate the possible clinical implication of the different ABO blood groups on the risk of developing venous thromboembolism (VTE), we conducted a meta-analysis of the existing literature. After an electronic search strategy using Medline and Embase and a manual review of abstract books of the International Society on Thrombosis and Haemostasis and of reference lists of all retrieved articles, we included in the systematic review 38 studies with 10,305 VTE cases. The prevalence of non-O blood group was significantly higher in VTE patients compared with controls with a resulting pooled odds ratio (OR) of 2.09 (95% confidence interval [CI], 1.83, 2.38; p < 0.00001). Similar findings were obtained when the genotypes A1O/BO/A2B (OR 1.73, 95% CI, 1.47, 2.05; p < 0.00001) and A1B/A1A1/BB (OR 1.87, 95% CI, 1.84, 2.44; p < 0.00001) were analyzed. The maximum VTE risk was observed in non-O-factor V Leiden patients (OR 7.60, 95% CI, 3.21, 17.99), while for G20210A prothrombin mutation it was not possible to perform a pooled analysis due to a paucity of published studies. Finally, the association between non-O blood group and VTE was weaker when provoked VTE cases were considered (OR 1.33, 95% CI, 1.18, 1.50), while it was substantially unchanged when unprovoked VTE cases were analyzed (OR 1.88, 95% CI, 1.42, 2.50). In conclusion, considering its prevalence, non-O blood group is a candidate to be one of the most important genetic risk factors for venous thrombosis.     

Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease

Infantile osteopetrosis with neuronal storage disease is a rare lysosomal storage disorder. It is an autosomal recessive disease that is associated with mutations in the OSTM1 and chloride channel ClCN-7genes. So far mutations in the OSTM1 gene have been identified in only 8 patients. To date, the clinical and morphological features of nine patients with infantile osteopetrosis with neuronal storage have been reported, but no ultrastructural findings of skin have been described in these patients. Skin biopsy is a cost-effective tool for the diagnosis of lysosomal storage disease. The purpose of this report is to define the ultrastructure of affected cells seen in skin biopsies of 2 boys whose mutation of OSTM1 has been characterized. The children presented in infancy with severe osteopetrosis and neurological deficiencies whose predominant symptoms were marked cerebral atrophy, decreased myelinization, and severe central nervous system involvement. Because of the difficulties in distinguishing this disorder from some lysosomal storage diseases such as mucopolysaccharidosis that have both neurological and skeletal abnormalities, the authors elected to examine skin biopsies from these children. Ultrastructural examination revealed the presence of swollen unmyelinated axons containing spheroids, reduced numbers of myelinated axons, and the presence of secondary lysosomes in Schwann cells containing lipofuscin. This study demonstrates that electron microscopy of skin biopsy is a useful diagnostic method to identify patients with clinical features of osteopetrosis with neuronal storage disease.     

A new familial sclerosing bone dysplasia

Osteoscleroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density. Here we report on a consanguineous Lebanese family in which two sisters, aged 39 and 36 years, exhibit a severe genu varum, a square‐face appearance, high forehead, slight proptosis of the eyes, symmetric enlargement of the jaw, protruding chin, and short stature. Bone X‐rays showed the presence of hyperostosis of the cranial base and vault with increased density of the orbits, hyperostosis of the bones, thickening of the cortices, diaphyseal modeling defects, cortical thickening of the medullary cavity, mild enlargement of the medullary cavity of the short long bones, short femoral necks, increased width of the ribs, and narrow interpedicular distances of the lower lumbar spine. Osteodensitometry showed values 200% to 300% above values for age. A cervical MRI revealed the presence of a diffuse osteosclerosis with calcification of the posterior vertebral ligament and a narrow canal between C2 and T2. Blood test results were unremarkable. Serum osteocalcin levels were in the normal range, whereas high values of serum C ‐ telopeptide were noted. A bone biopsy showed only the presence of compact bone and did not allow for histomorphometric analysis. Molecular studies excluded genes known to be involved in sclerosing bone dysplasias as the cause of this condition. In vitro analysis of osteoclast function indicated that contrary to most cases of autosomal recessive osteopetrosis, osteoclasts both formed and resorbed but exhibited a small decrease in resorptive activity compared with osteoclasts generated from normal control individuals. Differential diagnoses are discussed, and the possibility that this may be a novel clinical entity is raised. © 2010 American Society for Bone and Mineral Research.     

Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families

The aim of this study was to identify loss-of-function mutations of the V2 vasopressin receptor gene (AVPR2) in Italian patients affected by X-linked nephrogenic diabetes insipidus (NDI). Mutations were found in 15 of the 18 unrelated families investigated: nine of these mutations were previously unknown, including two affecting residues located in regions known to be important for determining the pharmacologic properties of the receptor, which were therefore functionally investigated. The first (A84D) involves a residue located near an aspartic acid (D85) that is highly conserved in all G protein-coupled receptors and that is believed to play a role in the process of their isomerization into functionally active and inactive states. The present study indicates that this mutation not only affects receptor folding in such a way as to lead to its retention inside the intracellular compartments but, as expected, also has profound effects on its binding and coupling properties. The second was a mutation of a tryptophan located at the beginning of the first extracellular loop (W99R) that greatly impaired the binding properties of the receptor and had a minor effect on its intracellular routing. Molecular analysis of the first extracellular loop bearing this mutation suggests that this residue plays a fundamental role in stabilizing the peptide/receptor interactions responsible for the high-affinity binding of agonists to the V2 receptor.     

Development of a physical performance scale for patients with implanted pacemakers

The development and the validation of the Pavia Physical Performance Scale (PPPS) is here presented. PPPS is a new instrument evaluating the physical performance of pacemaker implanted patients. Data comes from a cross-over clinical trial on the efficacy of two functions of the pacemaker device. Primary end-point is the improvement of the physical performance together with the quality of life. We used data of 168 patients actually enrolled and interviewed with the Pavia Physical Performance Scale. We first selected 30 Likert-type items; then we applied a statistical methodology of Homogeneity Analysis (HOMALS). We verified the homogeneity of the scale and the internal consistency (Cronbach's alpha = 0.92). With the same methodology, we developed the final version of PPPS. The final version lists 20 items; based on the results of the psychometric analysis, we turned the Likert-type scoring into a binary scoring (1 = no limitation of physical activity, 0 = limitation or never tried). The external validity, trough an Analysis of Variance of PPPS mean scores within New York Heart Association classes (NYHA), has been performed. We found a negative linear trend of PPPS scores and NYHA classes. That means an association between high PPPS scores (good physical performance) and low NYHA classes (also good physical capacity). The Pavia Physical Performance Scale (PPPS) could be proposed as a valid and consistent scale aimed to evaluate physical performance in pacemaker implanted patients. We suggest to use it in the clinical practice in addition to more traditional techniques.     

An atypical presentation of upper urothelial tumor

In some cases of primary transitional cell carcinoma (TCC), there may be some uncertainty in clinical decision making. We present a case in which a pT1-N0 urothelial tumor was found in the renal pelvis after an open nephrectomy for urolithiasis. Because incomplete excision of the ureter can lead to recurrence of the TCC, we deemed it necessary to remove the residual ureter. Therefore, a combined endoscopic-transvescical laparoscopic ureterectomy was performed. The transabdominal approach was chosen for the procedure, because the patient had already undergone open nephrectomy with retroperitoneal access and was thus likely to have adhesions and inflammation in the region. For the endoscopic phase of surgery, a technique of ureteral intussusception was combined with transurethral resection. The choice of the endoscopic transurethral procedure was prompted by the fact that transurethral resection of the ureteral orifice and invagination ureterectomy has already been proposed as the first step of nephroureterectomy. The combined endoscopic laparoscopic procedure was not technically demanding; the ureterectomy took no longer than an open procedure. The surgery was uneventful, and the patient resumed normal activities the day after surgery. The broader issue of whether this technique should be adopted by the urological community at large as a routine practice requires longer follow-up outcome data.     

Amitriptyline action on sympathetic neuronal function in depressed women

1. Noradrenaline plasma levels and cardiovascular function modifications with orthostatic challenge during therapy were studied in 59 female depressed inpatients treated with 100 mg amitriptyline daily by intramuscular route for 4 weeks. 2. Therapy induced an increase in pulse rate in supine and upright positions, a decrease of noradrenaline levels and modified standing systolic and (partially) diastolic blood pressure, particularly in elderly subjects. 3. No correlation between neurotransmitter or functional changes and drug plasma levels was noted. 4. The supposed lower noradrenergic output together with blood pressure drop in both positions suggests a reduced sympathetic tone.     

French mirror site of the NPAC Visible Human Viewer: first year evaluation

The NPAC visible human viewer (NPAC VHV), graphical interface written in JAVA, freely accessible by the Web, allows the display of anatomic cross-sections of the Visible Human Project developed by the National Library of Medicine. In April 1997, the Medical Media Library of Lyons undertook the construction of a French-language mirror site of the NPAC VHV. The aim of this work is to evaluate first year utilisation of this site. From May 1st, 1997 to April 30th, 1998, the mirror site was consulted 34,752 times. In 45.14% of cases, the request came from France, in 4.42% of cases from Belgium, in 3.98% from Canada and in 2.12% from Switzerland. Other connections came either from a country responsible for fewer than 1% of connections or from unidentified computers. Data analysis showed a peak of connections between 15:00 and 17:00, and an increased number of connections from September to March 1998. The NPAC VHV is housed in 5 sites in the world. It is a software very simple to use. As the figures have no legends, it is more appropriate for group teaching than for self-teaching.