Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association study with repeated assessment.

We performed an association study between four candidate genes, DRD2, DRD3, DRD4 and 5-HT2A for the presence of tardive dyskinesia (TD) on 84 patients with residual schizophrenia. The sample was evaluated again for the presence of TD after an interval of 3 years. The first group did not exhibit TD in either observation ( n =34) while in the second group of patients exhibited TD in at least one of the observations ( n =20+18). The clinical and socio-demographic characteristics were not significantly different between the two groups; the genetic analysis revealed a significant correlation between the C/C genotype of 5-HT2A and TD ( p =0.017). An association trend was observed between the 'short' variant of DRD4 and TD ( p =0.022). We did not observe any significant association for the DRD2 and DRD3 polymorphisms

Honey, bee pollen and vegetable oil unsaponifiables in wound healing

We would like to remark on the mechanisms and therapeutic properties of honey, bee pollen and unsaponifiable fractions of vegetable oils in wound healing

Strong correlation between diet and development of colorectal cancer.

Multiple factors have been described among the causes of non-hereditary colorectal cancer. In Western countries, the most common risk factors include upper-middle socioeconomic status and dietary regimens rich in proteins and animal fats. High consumption of red meats, smoked foods, cold cuts, or canned foods is believed to contribute to carcinogenesis as they directly affect epithlial turnover and cause metabolism of biliary acids. Dietary fibers have protective effects in that they capture the fats and biliary acids, thereby inhibiting their activity. Tobacco smoking acts both locally and systemically on the colorectal mucosa through the production of carcinogenic agents. Finally, the action of alcohol, in association with nicotine addiction, also increases the risk of developing colorectal tumors. Knowledge of dietary and environmental factors is of paramount importance in implementing preventive strategies for colorectal cancer

Splenic rupture after colonoscopy: Report of a case and review of literature

Splenic rupture is a rare complication of colonoscopy. For this reason the diagnosis could be delayed and the outcome dismal. Fifty-four cases of splenic rupture after colonoscopy have been described in the literature. The majority of the cases required emergent or delayed splenectomy, 13 of these cases were treated conservatively. The main feature that stands out from the review of the literature is the "surprise" of this unexpected complication. This factor explains the elevated mortality (2 out of 54 cases), likely due to the delay in diagnosis. The case here described is probably among the most complex published in the literature; in fact the presence of dense intra-abdominal adhesions not only contributed to the complication itself, but also explain the confinement of the hemoperitoneum to the left supra-mesocolic space and the delayed presentation (13 days from the time of the trauma)

Mechanisms of nerve damage in neuropathies associated with hematological diseases: lesson from nerve biopsies

Despite the introduction of non-invasive techniques in the study of peripheral neuropathies, sural nerve biopsy remains the gold standard for the diagnosis of several neuropathies, including vasculitic neuropathy and neurolymphomatosis. Besides its diagnostic role, sural nerve biopsy has helped to shed light on the pathogenic mechanisms of different neuropathies. In the present review, we discuss how pathological findings helped understand the mechanisms of polyneuropathies complicating hematological diseases

Molecular diagnosis of pancreatic cancer: where do we stand?

Pancreatic cancer remains a disease with a dismal prognosis due mostly to its late diagnosis. An early diagnosis would have a significant impact on the prognosis and, eventually, on the incidence of the disease itself. Many progresses have been made in the molecular diagnosis of pancreatic cancer. High risk patients would likely benefits from biologic screening, before the general population. Most of the markers remain limited to phase I and II studies. The challenges include the lack of specificity of some of the markers, as well as the lack of standardization within the laboratories. Further research is necessary prior to the application of the currently known biomarkers for the diagnosis of pancreatic cancer

Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome

Background and purpose; Biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestations ranging from isolated sensory neuro(no)pathy to a complex presentation as cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Our aim was to define the frequency and characteristics of small fiber neuropathy (SFN) in RFC1 disease at different stages.Methods: RFC1 cases were screened for SFN using the Neuropathic Pain Symptom Inventory and Composite Autonomic Symptom Score 31 questionnaires. Clinical data were retrospectively collected. If available, lower limb skin biopsy samples were evaluated for somatic epidermal and autonomic subepidermal structure innervation and compared to healthy controls (HCs).Results: Forty patients, median age at onset 54 years (interquartile range [IQR] 49-61) and disease duration 10 years (IQR 6-16), were enrolled. Mild-to-moderate positive symptoms (median Neuropathic Pain Symptom Inventory score 12.1/50, IQR 5.5-22.3) and relevant autonomic disturbances (median Composite Autonomic Symptom Score 31 37.0/100, IQR 17.7-44.3) were frequently reported and showed scarce correlation with disease duration. A non-length-dependent impairment in nociception was evident in both clinical and paraclinical investigations. An extreme somatic denervation was observed in all patients at both proximal (fibers/mm, RFC1 cases 0.0 vs. HCs 20.5, p < 0.0001) and distal sites (fibers/mm, RFC1 cases 0.0 vs. HCs 13.1, p < 0.0001); instead only a slight decrease was observed in cholinergic and adrenergic innervation of autonomic structures.Conclusions: RFC1 disease is characterized by a severe and widespread somatic SFN. Skin denervation may potentially represent the earliest feature and drive towards the suspicion of this disorder

Biological and clinical markers in colorectal cancer: state of the art.

Colorectal cancer (CRC) is the World's third most common cancer. Its prognosis is closely related to the disease stage at the time of diagnosis. Here we review the role of clinical biomarkers (tissue, serum, and faecal) in the management of CRC. Molecular studies have recently widened the opportunity for testing new possible markers, but actually, only few markers can be recommended for practical use in clinic. In the next future the hope is to have a complete panel of clinical biomarkers to use in every setting of CRC disease, and at the same time: 1) to receive information about prognostic significance by their expression and 2) to be oriented in the choice of the adequate treatment