A New Case of Hairy Elbows Syndrome (Hypertrichosis Cubiti)

Abstract: Hypertrichosis cubiti, also named hairy elbows syndrome (HES), is an uncommon variety of congenital, circumscribed hypertrichosis in which a remarkable amount of long vellus hair is localized on the extensor surfaces of the upper extremities. Usually, this condition appears in infancy, increases during early childhood, and regresses spontaneously at puberty. The mode of inheritance is not elucidated, and the condition presents in a sporadic or familial form. In most patients HES is not associated with any other physical abnormalities, although short stature and other developmental disorders have been described in some. An 8-year-old girl affected with HES is reported. The literature on this subject is reviewed, and some clinical and etiopathogenic aspects are discussed.     

Prevalence of antibodies to spotted fever group rickettsiae in human beings and dogs from an endemic area of mediterranean spotted fever in Catalonia, Spain

We assessed the prevalence of antibodies to spotted fever group rickettsiae in human beings and dogs by indirect immunofluorescence in the region of 'Vallés Occidental', Barcelona (Spain). In the group of 150 serum samples from patients without former history of Mediterranean spotted fever, 12 had antibodies to Rickettsia conori. The overall seroprevalence was 8% (95% confidence interval, 4.6% to 13.5%). There were no statistically significant differences between the mean ages of patients with positive and negative antibodies to R. conorii. However, seropositivity was significantly more common among patients living in semi-rural areas. In the group of 138 dog serum samples, 36 (26.1%) sera had antibodies to R. conorii. When the present results were compared with those obtained in a previous seroepidemiological survey carried out in the same geographical region in 1987, no significant differences were found. Therefore, although the epidemiological markers have dropped, this does not absolutely confirm the decrease of the presence of R. conorii in this area.     

Tripe Palms: A Cutaneous Marker of Internal Malignancy

Tripe palms is a distinctive paraneoplastic cutaneous sign which is frequently associated with internal malignancy, specially carcinomas of the lung and stomach. We describe a patient with ovary carcinoma who showed a curious rugose thickening of the palms with accentuation of the normal dermatoglyphic ridges. The lesions were a specially prominent on the fingertips. The patient also showed classical acanthosis nigricans in the axillae and groin. The soles were spared. Histopathologic findings in palmar lesions consisted of an undulant epidermis, with hyperkeratosis, acanthosis, and papillomatosis. Excision of the ovary carcinoma was followed by complete regression of the cutaneous lesions. We review the literature about tripe palms and discuss the relationship between this striking cutaneous manifestation and internal malignancy.     

ST segment elevation at 72 hours in patients with a first anterior myocardial infarction best correlates with pre-discharge and 1-year regional contractility and ventricular dilatation.

AIMS: To analyse the relationship between the in-hospital course of ST segment elevation (STE) and negative T wave (NTW) with ejection fraction, regional contractility and left ventricular end-diastolic volume at pre-discharge and at 1 year in patients with a first anterior STE acute myocardial infarction (AMI). METHODS AND RESULTS: ECG changes were measured during hospitalization and at 1 year whereas ejection fraction, regional contractility score and end-diastolic volume index were measured by isotopic ventriculography at pre-discharge and at 1 year. At 72h but not earlier patients with SigmaSTE >0.6mV (group A, n: 35) had a lower ejection fraction (P<0.001), a higher regional contractility score (P<0.001) and a larger end-diastolic volume index (P<0.001) at discharge than those with <0.6mV (group B, n: 26). Negative T wave did not provide additional information. At 1 year, group A continued to show a more impaired ejection fraction and regional contractility than group B and a larger end-diastolic volume. CONCLUSION: Although reportedly changes in STE within the first hours correlate with coronary reperfusion our findings indicate that additional assessment of STE as early as at 72h correlates with wall motion, ejection fraction and ventricular dilatation at discharge and at 1 year.     

Pregnancy: Antiphospholipid antibodies and human reproductive failure

Routine screening for circulating antiphospholipid antibodies(aPL), namely the lupus anticoagulant (LA) and anticardiolipinantibodies (aCL), was carried out in a total of 1273 women aged<45 years. Of them, 822 were experimental subjects and 451were controls. The former comprised the following three studygroups: 498 infertile patients (group 1), 284 spontaneous recurrentaborters (group 2), and 40 patients with repeated failure ofembryo transfer (group 3). Controls included five groups ofwomen: 125 normal healthy women who had never been pregnant(group 4), 125 normal healthy parous women with no previousabortion (group 5), 52 women in labour after normal pregnanciesat term (group 6), 49 infertile patients achieving a livebirthwith their first in-vitro fertilization (IVF) and embryo transfer(group 7), and 100 female patients with systemic lupus erythematosus(positive controls, group 8). aPL positivity in the eight groupsstudied was as follows: 2.4, 9.2, 10, 0.8, 0, 0, 0 and 42% respectivelyfor groups 1 to 8. There were no differences within groups 1and 3 regarding incidence of aPL when patients were groupedaccording to infertility aetiological factors and indicationsfor IVF respectively. Twenty-six out of 284 recurrent aborters(9.2%) tested positive for aPL, and the LA and/or aCL were identifiedas the aetiological factor in 12% of patients (24/199) withsupposedly unexplained recurrent abortion. Incidence of positivesera for aPL in group 1 was similar to that observed in controlgroups 4, 5 and 6. On the contrary, incidence of aPL positivityin groups 2 and 3 was significantly higher than in control groups4, 5 and 6 and among infertile women (group 1). The differencebetween groups 3 and 7 almost reached statistical significance.Interestingly, there was no difference between groups 2 and3, but groups 2 and 7 resulted probably different regardingincidence of aPL positive sera. As expected, the highest incidenceof patients testing positive for aPL was found in group 8. Seveninfertile patients having circulating aPL and becoming pregnantspontaneously or after specific infertility treatment, successfullycarried to term in spite of the fact that they did not receiveimmunotherapy. Among recurrent aborters, the live-born babyrate was significantly higher after treatment with low-doseaspirin than prior therapy. It is concluded that the presenceof circulating aPL may be associated with recurrent abortionbut not with infertility. In addition, our results favour apossible role of aPL hi failure of implantation after IVF andembryo transfer.     

Lipodystrophia Centrifugalis Abdominalis Infantilis: A Case Report

Abstract: We describe a typical case of lipodystrophia centrifugalis abdominalis infantilis. This rare disorder is almost exclusively seen in Japanese children. The patient, a 3-year-old girl of Chinese ancestry, had a depressed area of skin in the right groin which gradually spread across the abdomen. The lesion had a distinctive, slightly erythematous, raised border and regional lymphadenopathy was present.     

In silico prediction and ex vivo evaluation of potential T-cell epitopes in glycoproteins 4 and 5 and nucleocapsid protein of genotype-I (European) of porcine reproductive and respiratory syndrome virus

T-cell epitopes of porcine reproductive and respiratory syndrome virus (PRRSV) glycoproteins 4 (GP4), 5 (GP5) and nucleocapsid (N) were predicted using bioinformatics and later tested by IFN-γ ELISPOT in pigs immunized with either a modified live vaccine (MLV) or DNA (open reading frames 4, 5 or 7). For MLV-vaccinated pigs, immunodominant epitopes were found in N but T-epitopes were also found in GP4 and GP5. For DNA-immunized pigs, some peptides were differently recognized. Using a large set of PRRSV sequences it was shown that N contains a conserved epitope and that for GP5, the genotype-I counterparts of previously reported epitopes of genotype-II strains were also immunogenic.     

Intake of high levels of vitamin A and polyunsaturated fatty acids during different developmental periods modifies the expression of morphogenesis genes in European sea bass (Dicentrarchus labrax)

The effect of the feeding period on larval development was investigated in European sea bass larvae by considering the expression level of some genes involved in morphogenesis. Larvae were fed a control diet except during three different periods (period A: from 8 to 13 d post-hatching (dph); period B: from 13 to 18 dph; period C: from 18 to 23 dph) with two compound diets containing high levels of vitamin A or PUFA. European sea bass morphogenesis was affected by these two dietary nutrients during the early stages of development. The genes involved in morphogenesis could be modulated between 8 and 13 dph, and our results indicated that retinoids and fatty acids influenced two different molecular pathways that in turn implicated two different gene cascades, resulting in two different kinds of malformation. Hypervitaminosis A delayed development, reducing the number of vertebral segments and disturbing bone formation in the cephalic region. These malformations were correlated to an upregulation of retinoic acid receptor gamma, retinoid X receptor (RXR) alpha and bone morphogenetic protein (BMP)4. An excess of PUFA accelerated the osteoblast differentiation process through the upregulation of RXRalpha and BMP4, leading to a supernumerary vertebra. These results suggest that the composition of diets devoted to marine fish larvae has a particularly determining effect before 13 dph on the subsequent development of larvae and juvenile fish.