Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Background

Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006.

Methods

Consecutive NF1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths. We studied factors associated with death and causes of death.

Results

Between 1980 and 2006, 1895 NF1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6). Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF1 cohort (SMR, 2.02; CI, 1.6-2.6; P < 10^-4). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; P < 10^-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; P < 10^-4). Significant excess mortality was found in both males and females. In the 10-20 year age group, females had a significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6%) patients; malignant nerve sheath tumor was the main cause of death (60%).

Conclusions

We found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population. The definitive diagnosis of NF1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study. Mortality was significantly increased in NF1 patients aged 10 to 40 years and tended to be higher in females than in males.     

Structure and Development of the Axillary Complex and Extrafloral Nectaries in Capparis retusa Griseb.

Abstract: The structure, organization and development of the axillary complex and extrafloral nectary in Capparis retusa Griseb. was analysed for the first time. The axillary complex presents three uniserial descending buds. Subordinated shoots originate from the distal and middle bud, while the proximal bud is usually quiescent. Close to the top of the axillary complex there is a subglobulous and umbilicated extrafloral nectary, normally visited by nectivore ants; a chronological coincidence between secretion, production and ant patrolling activities has been observed. The nectary structure differentiates at the second caulinar node, from an axillar meristem separated from the surrounding cells by a shell zone. On the fourth node a remarkably developed nectary primordium can be observed, inside which procambial strands develop acropetally. In the central region of the nectary primordium homogenous parenchyma differentiates progressively, later acquiring characteristics of nectariferous tissue. The mature nectary is vascularized by xylem and phloem, and the procambial differentiation is completed in a basipetal way. The first serial bud differentiates at the third node, from meristem cells near the base of its supporting leaf. The complex nodal structure with three buds completes its development at the eighth caulinar node. Ramular traces are observed as vascular semicylinders penetrating into the base of the buds to constitute a vascular system similar to that of the shoot. The scheme is repeated in the extrafloral nectary, giving rise to prolific branching in the periphery of the nectariferous tissue.     

Preliminary studies on noncovalent hyperbranched polymers based on PNA and DNA building blocks

In this work, we report thermodynamic, kinetic, and microrheological studies relative to the formation of PNA‐ and PNA/DNA‐based noncovalent polymeric systems, useful tools for biotechnological and bioengineering applications. We realized two kinds of systems: a PNA‐based system formed by a self‐assembling PNA tridendron, and a PNA/DNA hybrid system formed by a PNA tridendron and a DNA linker. The formation of a three‐dimensional polymeric network, by means of specific Watson–Crick base pairing, was investigated by a detailed UV and CD spectroscopic study. Preliminary microrheology experiments were performed on both systems to evaluate their viscoelastic properties which resulted in agreement with the formation of soluble hyperbranched polymers that could be useful for drug/gene delivery, as well as for encapsulating organic pollutants of different shapes and sizes in environmental applications. Copyright © 2009 European Peptide Society and John Wiley & Sons, Ltd.     

Defining the cost of the Egyptian lymphatic filariasis elimination programme

BACKGROUND: Ultrasonography (USG) is known to be a suitable tool for diagnosis in lymphatic filariasis as the adult filarial nematode Wuchereria bancrofti in scrotal lymphatic vessels of infected men can be detected by the characteristic pattern of movement, the Filaria Dance Sign. In onchocerciasis, moving adult worms have not yet been demonstrated by USG. In addition the verification of drug effects on living adult Onchocerca volvulus filariae in trials is hampered by the lack of tools for longitudinal observation of alterations induced by potentially macrofilaricidal drugs in vivo. The present study was carried out to determine the frequency of detection of moving adult filariae of O. volvulus by USG. METHODS: In an endemic region for onchocerciasis in Ghana, 61 patients infected with onchocerciasis were recruited by palpation and onchocercomas examined by USG using an ultrasound system equipped with a 7.5 - 10 MHz linear transducer. Onchocercomas were recorded on videotape and evaluated with regard to location, number and size, as well as to movements of adult filariae. RESULTS: In the 61 patients 303 onchocercomas were found by palpation and 401 onchocercomas were detected by USG. In 18 out of 61 patients (29.5%), altogether 22 nodules with moving adult O. volvulus filariae were detected and are presented in animated ultrasound images as mp-4 videos. CONCLUSION: Ultrasonographical examinations of onchocercomas where living adult filariae can be displayed may serve as a new tool for the longitudinal observation in vivo of patients with onchocerciasis undergoing treatment and as an adjunct to histological evaluation.     

Morphoanatomical studies of Uncaria tomentosa and Uncaria guianensis bark and leaves.

The genus Uncaria Schreber (Rubiaceae) includes species that are widely distributed in tropical areas. The inner bark of the stems and leaves of two native species of South America, Uncaria tomentosa (Willd. ex Roemer & Schultes) DC., and Uncaria guianensis (Aublet) J. F. Gmelin, "cat's claw" are used in either folk medicine or in procuring phytotherapeutic drugs. These species contain about sixty active substances which are being tested widely for possible medicinal value. The following applications are considered: peptic ulcer, rheumatism, tumours, antiinflammatory effect, inflammation, diabetes and as general tonic. Currently, Uncaria tomentosa is in demand as tea, tablets or capsules in more than 30 countries outside Perú, as well as inside the country. Pharmacognosy studies are required to determine the comparative morphoanatomical and micrographic features for identification and quality control purposes. Several microscopic parameters, including phloem fibers, calcium oxalate crystals, starch granules, trichomes, and foliar architecture should be considered. The aim of our work is to analyse comparative morphoanatomical and micrographic features which might provide assistance in the identification, analysis and standardization of Uncaria tomentosa (Willd. ex Roemer & Schultes) DC. and Uncaria guianensis (Aublet) J. F. Gmelin stem bark and leaves in order to obtain phytotherapeutic drugs, and of the crude drug as well.