Multigeneration maternal transmission in Italian families with neural tube defects

Periconceptional vitamin supplementation with folate prevents about three-quarters of expected cases of neural tube defects (NTDs) in clinical trials. However, vitamin action may be regulated at the level of the gene, and individual susceptibility to environmental agents, including dietary components, also may be under genetic control. We investigated the presence of familial factors in a retrospective case control study of neural tube defects in Genoa, Italy. Cases included all patients treated at a single pediatric neurosurgical service. Controls matched on age and sex came from the same hospital. We found strong evidence for the contribution of genetic factors in this study. There was an excess risk of 14 for the occurrence of NTDs in first-degree relatives compared to controls (P < .0005). There was no difference in sex ratio in any group of relatives, but maternal grandparents of children with a high spinal lesion had 14% fewer offspring than paternal grandparents (P < .005), possibly because of excess miscarriages. Our study is the first to show complex patterns of inheritance in spina bifida families affecting three generations in one clinical subgroup and preferentially on the mother's side. These results support a role for genomic imprinting and highlight the value of multidisciplinary epidemiologic and clinical studies that include multiple generations. New studies incorporating dietary and genetic approaches will help clarify and extend these findings. © 1996 Wiley-Liss, Inc.     

Lateral cervical approach for salvage total laryngectomy without pharyngeal reinforcement with pedicled or free flaps: our preliminary experience in six patients

European Archives of Oto-Rhino-Laryngology - To analyze the surgical outcomes in terms of postoperative wound complications in a small case series of six patients treated with lateral cervical...     

β-thromboglobulin and fibrinopeptide a in diabetes mellitus as markers of vascular damage

Summary β-thromboglobulin (BTG) and fibrinopeptide A (FpA) were studied in 68 non-insulin dependent diabetic patients (NIDD) aged 32–81 with a mean duration of diabetes of 9±0.8 SEM years and 44 healthy controls, comparable for age and sex. Diabetic patients were subdivided into subsets according to the presence of microvascular disease, macrovascular disease or the absence of these lesions. Patients with microangiopathy (micro- and/or macrovascular disease) had higher HbA (p<0.01), higher blood pressure (p<0.05) than both healthy controls and uncomplicated diabetics. Plasma BTG was higher in diabetic patients than in healthy controls (p<0.02), and was higher in complicated than in non-complicated diabetic subjects. Fpa was higher in complicated than in non-complicated diabetes (p<0.05). No differences were observed between the two subsets of complicated patients. In conclusion, we have shown that increased plasma- and platelet-BTG levels are present in non-insulin dependent diabetic subjects, with normal renal function and that plasma BTG is higher in patients with than in those without vascular disease. Fibrinopeptide A, a sensitive marker ofin vivo fibrin formation, was significantly increased in NIDD with vascular complications. This study was supported by the Juvenile Diabetes Foundation Grant N. 184066 and by the National Research Council of Italy,Progetto Finalizzato di Medicina Preventiva e Riabilitativa, Sottoprogetto 4.     

Bone cement extracts modulate the osteoprotegerin/osteoprotegerin-ligand expression in MG63 osteoblast-like cells

The osteoprotegerin-ligand (OPG-L) has been identified as the essential factor required for osteoclastogenesis, and its effects are prevented by the osteoprotegerin (OPG). The OPG-L/OPG balance plays a crucial role in coordinating the sequence of osteoclast and osteoblast differentiation during the bone remodeling. The aim of the study was to investigate if polymethylmethacrylate-based cements are able to modulate the expression of OPG-L/OPG in MG63 cells, which are known to have high levels of OPG and inducible expression of OPG-L. Four radio-opaque cements. namely Sulfix-60, CMW1, CMW2 and CMW3, were polymerized for either 1 h or 7 d. MG63 were incubated for 24 h with culture medium only, cement extracts and 2 microg/ml of human recombinant IL-1beta as positive control. An RT-PCR was performed to detect the OPG and OPG-L expression, and the house-keeping gene, GAPDH, was used as a reference for the semi-quantitative analysis. An increase in the OPG-L band density was observed for all cements, and consequently, the OPG-L/OPG ratio also increased. The ability of bone cements to induce the expression of OPG-L could be a co-factor in the development of osteolysis at the bone-cement interface.     

Nonsentinel node metastases in breast cancer patients with isolated tumor cells in the sentinel node: implications for completion axillary node dissection

BACKGROUND: Controversy exists regarding axillary dissection (ALND) for sentinel node (SLN) metastases detected as isolated tumor cells (ITC). We hypothesized that the number of positive non-SLNs is low and ALND is unnecessary for most patients with ITC. METHODS: From 1995 to 1999, 634 breast cancer patients underwent SLND. SLNs were examined using immunohistochemistry if hematoxylin and eosin was negative. ALND was recommended for ITC-positive SLNs. RESULTS: Seventy-eight patients (12.3%) with ITC-positive SLNs were offered ALND. Sixty-one consented, whereas 17 refused. Fifty-eight (95.1%) had negative non-SLNs. Three (4.9%) had non-SLN metastases. One patient (1.6%) had macrometastatic disease, whereas 2 (3.3%) had micrometastases. No ITC-only-positive SLN patient experienced axillary recurrence. CONCLUSIONS: When ALND was performed for ITC, 1.6% of non-SLNs harbored macrometastases and 3.3% had micrometastases. When ALND was not performed, axillary recurrence was not seen. The low risk of non-SLN disease in this study fails to support the routine use of ALND for ITC-positive SLNs.     

Bioactive Bacterial Nanocellulose Membranes Enriched with Eucalyptus globulus Labill. Leaves Aqueous Extract for Anti-Aging Skin Care Applications

Bacterial nanocellulose (BNC) membranes, with remarkable physical and mechanical properties, emerged as a versatile biopolymeric carrier of bioactive compounds for skin care applications. In this study, BNC membranes were loaded with glycerol (as plasticizer and humectant agent) and different doses (1–3 μg cm⁻²) of an aqueous extract obtained from the hydro-distillation of Eucalyptus globulus Labill. leaves (HDE), for application as sheet facial masks. All membranes are resistant and highly malleable at dry and wet states, with similar or even better mechanical properties than those of a commercial BNC mask. Moreover, the HDE was found to confer a dose-dependent antioxidant activity to pure BNC. Additionally, upon 3 months of storage at 22–25 °C and 52% relative humidity (RH) or at 40 °C and 75% RH, it was confirmed that the antioxidant activity and the macroscopic aspect of the membrane with 2 μg cm⁻² of HDE were maintained. Membranes were also shown to be non-cytotoxic towards HaCaT and NIH/3T3 cells, and the membrane with 2 μg cm⁻² of HDE caused a significant reduction in the senescence-associated β-galactosidase activity in NIH/3T3 cells. These findings suggest the suitability and potential of the obtained membranes as bioactive facial masks for anti-aging applications.