Oral characteristics of Trisomy 8 and monosomy 18: a case report

Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes. A case of mosaic trisomy 8 and monosomy 18 with significant involvement of the oral cavity is described, both in terms of general medicine and from a dental-oral perspective, and the treatment plan was planned and discussed. Regular follow-up visits enabled to verify significant improvement in all parameters of the patient’s oral health, which urged us to press on with our quest to protect the right to health of patients affected by disabilities

Contribution of Protease-activated Receptors 1 and 4 and Glycoprotein Ib-IX-V in the Gi-independent Activation of Platelet Rap1B by Thrombin

Thrombin activates human platelets through three different membrane receptors, the protease-activated receptors PAR-1 and PAR-4 and the glycoprotein Ib (GPIb)-IX-V complex. We investigated the contribution of these three receptors to thrombin-induced activation of the small GTPase Rap1B. We found that, similarly to thrombin, selective stimulation of either PAR-1 or PAR-4 by specific activating peptides caused accumulation of GTP-bound Rap1B in a dose-dependent manner. By contrast, in PAR-1- and PAR-4-desensitized platelets, thrombin failed to activate Rap1B. Thrombin, PAR-1-, or PAR-4-activating peptides also induced the increase of intracellular Ca(2+) concentration and the release of serotonin in a dose-dependent manner. We found that activation of Rap1B by selected doses of agonists able to elicit comparable intracellular Ca(2+) increase and serotonin release was differently dependent on secreted ADP. In the presence of the ADP scavengers apyrase or phosphocreatine-phosphocreatine kinase, activation of Rap1B induced by stimulation of either PAR-1 or PAR-4 was totally inhibited. By contrast, thrombin-induced activation of Rap1B was only minimally affected by neutralization of secreted ADP. Concomitant stimulation of both PAR-1 and PAR-4 in the presence of ADP scavengers still resulted in a strongly reduced activation of Rap1B. A similar effect was also observed upon blockade of the P2Y12 receptor for ADP, as well as in P2Y12 receptor-deficient human platelets, but not after blockade of the P2Y1 receptor. Activation of Rap1B induced by thrombin was not affected by preincubation of platelets with the anti-GPIbalpha monoclonal antibody AK2 in the absence of ADP scavengers or a P2Y12 antagonist but was totally abolished when secreted ADP was neutralized or after blockade of the P2Y12 receptor. Similarly, cleavage of the extracellular portion of GPIbalpha by the cobra venom mocarhagin totally prevented Rap1B activation induced by thrombin in the presence of apyrase and in P2Y12 receptor-deficient platelets. By contrast, inhibition of MAP kinases or p160ROCK, which have been shown to be activated upon thrombin binding to GPIb-IX-V, did not affect agonist-induced activation of Rap1B in the presence of ADP scavengers. These results indicate that although both PAR-1 and PAR-4 signal Rap1B activation, the ability of thrombin to activate this GTPase independently of secreted ADP involves costimulation of both receptors as well as binding to GPIb-IX-V

Taste dysfunction in patients undergoing hematopoietic stem cell transplantation: Clinical evaluation in children

The aim of this study was to determine the variability of TD in children undergoing HSCT. Cases were identified as consecutively enrolled children in the period January 2011-January 2013 among patients attending the Paediatric Department of Spedali Civili of Brescia and all candidates to HSCT. The TST was conducted in two phases: identification of threshold values and identification of perceived stimulus intensity. Sixteen sapid solutions with four flavors (sucrose, sodium chloride, citric acid, and quinine hydrochloride) at four different concentrations were administered in a random sequence. The same protocol was administered at different time intervals: before starting the conditioning therapy (T0), during the conditioning therapy (T1) (two times), and every three months (two times) after engraftment post-HSCT (T2). A p-value < 0.05 was considered statistically significant. Fifty-one children (29 female and 22 male, mean age 5.2 ± 0.7 yr) were enrolled. Threshold value means for the four flavors increased during HSCT conditioning therapy (T1) (p < 0.01); intensity of perceived stimulus decreased during HSCT conditioning therapy (p < 0.01). At six months after engraftment (T2), both parameters had returned to starting values (T0). Changes in taste perception in children undergoing HSCT seem to occur especially during the conditioning therapy and resolve in about six months after engraftment post-HSCT

Feeding and smoking habits as cumulative risk factors for early childhood caries in toddlers, after adjustment for several behavioral determinants: a retrospective study

Background: Several maternal health determinants during the first period of life of the child, as feeding practice, smoking habit and socio-economic level, are involved in early childhood health problems, as caries development. The potential associations among early childhood caries, feeding practices, maternal and environmental smoking exposure, Socio-Economic Status (SES) and several behavioral determinants were investigated. Methods: Italian toddlers (n = 2395) aged 24–30 months were recruited and information on feeding practices, sweet dietary habit, maternal smoking habit, SES, and fluoride supplementation in the first year of life was obtained throughout a questionnaire administered to mothers. Caries lesions in toddlers were identified in visual/tactile examinations and classified using the International Caries Detection and Assessment System (ICDAS). Associations between toddlers’ caries data and mothers’ questionnaire data were assessed using chi-squared test. Ordinal logistic regression was used to analyze associations among caries severity level (ICDAS score), behavioral factors and SES (using mean housing price per square meter as a proxy). Results: Caries prevalence and severity levels were significantly lower in toddlers who were exclusively breastfed and those who received mixed feeding with a moderate–high breast milk component, compared with toddlers who received low mixed feeding and those exclusively fed with formula (p &lt; 0.01). No moderate and high caries severity levels were observed in an exclusively breastfed children. High caries severity levels were significantly associated with sweet beverages (p &lt; 0.04) and SES (p &lt; 0.01). Toddlers whose mothers smoked five or more cigarettes/day during pregnancy showed a higher caries severity level (p &lt; 0.01) respect to those whose mothers did not smoke. Environmental exposure to smoke during the first year of life was also significantly associated with caries severity (odds ratio =7.14, 95% confidence interval = 6.07-7.28). No association was observed between caries severity level and fluoride supplementation. More than 50% of toddlers belonging to families with a low SES, showed moderate or high severity caries levels (p &lt; 0.01). Conclusions: Higher caries severity levels were observed in toddlers fed with infant formula and exposed to smoke during pregnancy living in area with a low mean housing price per square meter.</br

Comparisons between glucose analogue 2-deoxy-2-((18)F)fluoro-D-glucose and (18)F-sodium fluoride positron emission tomography/computed tomography in breast cancer patients with bone lesions

To compare 2-deoxy-2-((18)F)fluoro-D-glucose((18)F-FDG) and (18)F-sodium ((18)F-NaF) positron emission tomography/computed tomography (PET/CT) accuracy in breast cancer patients with clinically/radiologically suspected or known bone metastases

Unbalanced rearrangement der(9;18)(p10;q10) and JAK2 V617F mutation in a patient with AML following post-polycythemic myelofibrosis

Polycythemia Vera (PV) is a clonal myeloproliferative disorder characterized by excessive erythrocyte production, which may evolve into myelofibrosis and acute myeloid leukemia. Transformation to myelofibrosis occurs in 15-20% of cases and leukemic transformation in 5-10% of patients. The median survival time is 8-11 years and the median age at diagnosis is over 60 years. Normal karyotype is present at diagnosis in the majority of patients, while during transformation several acquired chromosome anomalies are present as trisomy 9 and gains in 9p

Effects of Cadmium chloride on human fetal cells in vitro

The principal aim of this work was to demonstrate the feasibility of tests with substances known as teratogenic in vivo on cell types which are the real target of their teratogenic effects. To this purpose Cadmium chloride has been tested on human amniotic fluid cells using the Chromosome aberrations (CA) and Sister chromatid exchanges (SCE) tests

Stem Cell-Derived Human Striatal Progenitors Innervate Striatal Targets and Alleviate Sensorimotor Deficit in a Rat Model of Huntington Disease

Huntington disease (HD) is an inherited late-onset neurological disorder characterized by progressive neuronal loss and disruption of cortical and basal ganglia circuits. Cell replacement using human embryonic stem cells may offer the opportunity to repair the damaged circuits and significantly ameliorate disease conditions. Here, we showed that in-vitro-differentiated human striatal progenitors undergo maturation and integrate into host circuits upon intra-striatal transplantation in a rat model of HD. By combining graft-specific immunohistochemistry, rabies virus-mediated synaptic tracing, and ex vivo electrophysiology, we showed that grafts can extend projections to the appropriate target structures, including the globus pallidus, the subthalamic nucleus, and the substantia nigra, and receive synaptic contact from both host and graft cells with 6.6 ± 1.6 inputs cell per transplanted neuron. We have also shown that transplants elicited a significant improvement in sensory-motor tasks up to 2 months post-transplant further supporting the therapeutic potential of this approach

Morphological findings in malformed fetuses with normal karyotype

In our Department morphological findings on fetuses from therapeutic interruption of pregnancy or spontaneous abortion are performed since ten years in order to correlate the ultrasound and/or chromosomic diagnosis with a real presence of malformations. The fetopathologic examination generally agrees with the chromosomal diagnosis, while in several cases it is possible to find malformations also in presence of a normal karyotype (Gitz, 2011). In our experience over the past 5 years we have found that 17 fetuses with a normal karyotype showed different heterogeneous ultrasound malformations. Only in 2 cases the fetuses died in uterus (17th and 22nd weeks of gestation), the other cases, aged between 14th and 23rd weeks of gestation, went from voluntary abortions. In 7 cases the karyotype was defined by amniocentesis while in the remaining 10 was determined by fetal fibroblasts culture; in only 30% of the observed cases the couple had carried out a genetic evaluation. External malformations were present in 16 fetuses, often related to the face (such as micrognathia, low-set of ears, flattened nasal bridge, cleft lip) or limb (short, curved, stubby) of spine (spina bifida) or genitalia (hypospadias). Malformations of internal organs were present in 10 cases, often affecting the cardiovascular system (complex heart defects and abnormal origin of the greath vessels), and nervous system (meningocele, agenesia of the corpus callosum, ventricular dilatation and Arnold-Chiari malformation); less frequent were malformations of other systems (digestive, respiratory and urinary). There was a single case of situs viscerum inversus associated with complex cardiac malformations and atresia of the bucco-pharyngeal membrane. These results indicate that the fetal morphological study is useful not only to confirm but often to supplement and complete the ultrasound data. Moreover genetic evaluation, utilizing fetopatholgical study, may have an important role in defining the diagnostic and clinical procedure, especially in relapses with malformed fetus and normal karyotype