516 research outputs found
Medications in pregnancy and lactation.
No full textThe best way to provide pregnant women with correct information about the risks related to therapy in pregnancy is to consult a teratology information service. A further activity of teratology information services is in conducting prospective studies, thus playing an important role in postmarketing surveillance. This methodology also allows for the provision of counseling for newly marketed drugs, for which there are usually no published data, by sharing the unpublished follow-up data obtained by each teratology information service
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
No full textHearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic HL and identifying correlations with specific audiological phenotypes. The extraordinary discoveries in the field of molecular genetics during the last three decades have contributed substantially to the current knowledge. Next-generation sequencing technologies have dramatically increased the diagnostic rate for genetic HL, enabling the detection of novel variants in known deafness-related genes and the discovery of new genes implicated in hearing disease. Overall, genetic factors account for at least 40% of the cases with HL, but a portion of affected patients still lack a definite molecular diagnosis. Important steps forward have been made, but many aspects still have to be clarified. In particular, the role of epigenetics in the development, function and pathology of hearing is a research field that still needs to be explored. This research is extremely challenging due to the time- and tissue-dependent variability of the epigenetic changes. Multisystem diseases are expected to be investigated at first: specific epi-signatures have been identified for several syndromic disorders and represent potential markers for molecular diagnostics
Sul bestiario allegorico di Alphonse Toussenel (1803-1885)
No full text Many are the correspondences between Nature and Society, Kingdom of the Nature and World of the Politics, in the works of the French writer Alphonse Toussenel. Well known for his anti-semitic volume Les Juifs, rois de l’époque (1845), Toussenel is also the author of books about animals and about hunting. Such part of his production – built on the idea that animals are “logogriphs” of human virtues and vices – is ambiguous, especially in its relationships with violence: as when Toussenel, socialist and pacifist, invokes the extermination of animal races which represent human groups. Molte le corrispondenze tra Natura e Società, tra regno della Natura e mondo della Politica, presenti nelle opere di Alphonse Toussenel, lo scrittore francese a cui il presente contributo è dedicato. Conosciuto per lo scritto antisemita Les Juifs, rois de l’époque (1845), Toussenel è anche l’autore di libri sugli animali e sulla caccia. Questa parte della sua produzione – costruita a partire dall’idea che gli animali sono “logogrifi” delle virtù e dei vizi umani – resta ambigua, soprattutto per quanto attiene al ricorso alla violenza: come quando Toussenel, socialista e pacifista, arriva ad invocare lo sterminio di razze animali che simboleggiano gruppi umani.
Pharmacologic treatment of hyperthyroidism during pregnancy.
No full textClinical hyperthyroidism has been associated with an increased risk of maternal, fetal, and neonatal complications. The available antithyroid drugs are methimazole/carbimazole and propylthiouracil. Several case reports and some epidemiologic studies suggest that methimazole/carbimazole exposure during the first trimester of pregnancy is associated with an increased risk of congenital malformations, including ectodermal anomalies, choanal atresia, esophageal atresia, and omphalocele. However, the absolute risk appears to be very small, and it remains unclear whether the association is driven by the maternal disease, the medication, or the combination of both factors. Propylthiouracil exposure has not been associated with an increased risk of congenital malformations and is the recommended drug during the first trimester of pregnancy. Since propylthiouracil-induced hepatotoxicity has been reported in approximately 0.1% of exposed adults and the number of case-reports of severe liver injury is increasing, treatment with low dose methimazole during the second and third trimesters should be considered. Until now, there has been no evidence that children prenatally exposed to methimazole/carbimazole or propylthiouracil have an increased risk of neurodevelopmental delay
Genetic susceptibility to teratogens: State of the art.
No full textThere is evidence that the susceptibility to the teratogenic effect of drugs within human populations
varies extremely from one individual to another, even after identical exposures. One of the factors that
may explain these interindividual differences is the genetic makeup in the pharmacokinetics and pharmacodynamics
of the respective drugs. In fact, both maternal and embryonic/fetal genotypes can affect
placental transport, absorption, metabolism, distribution and receptor binding of an agent, influencing its
teratogenicity. We have reviewed the literature and commented on the reported correlations between
genetic factors and drug-induced birth defects. There is still a clear lack of knowledge regarding this
issue and the available data are often conflicting. However, the identification of specific polymorphisms
associated with predisposition to teratogenesis may allow in the future the development of personalized
non-teratogenic therapies for pregnant women
Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report
No full textBackground: We present a case of a Chinese child with one of the largest terminal deletions (21 Mb) of the short arm of chromosome 10 (10p) reported to date. Distal monosomy 10p is a rare chromosomal disorder characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms. Mutations in certain 10p regions have been associated with distinct clinical features, but the real weight of each component cannot be estimated in a large deletion like that of our child; therefore, long-term prognosis is difficult to predict precisely, although it certainly foresees a severe impact on the psychomotor development of the child.Case Description: Diagnosis was made in the early neonatal period because of several dysmorphic features and multiple organ involvement. Since the patient's care needs were complex, the Pediatric Palliative Care (PPC) and Pain Service team was involved as a case manager and coordinator from the beginning. In the Veneto region of Italy, our PPC center offers a palliative care approach, through the national health system, embedded with curative-restorative care providing many support activities (such as physiotherapy, physiological support and home assistance) valuable for patients and their families' quality of life. Despite overlap in many characteristics of our child and other children who receive PPC services, the experience of children who have rare genetic conditions and undetermined prognosis with PPC services is still largely unknown. Periodic hospitalization for multidisciplinary follow-up and reassessment of patient's needs were arranged and any rehabilitation program focused on improving her skills was followed. At 5 years of age, her medical condition is controlled and well managed.Conclusions: This case represents a good example of complex care management by the PPC team, which takes into account the patient's and family's needs enhancing their quality of lives, as reported and underlined by parents themselves. This approach could be considered for other children with rare medical conditions without a definite prognosis
Maurras e il maurrassismo nei venti della guerra
No full textThis work aims at pointing out the figure of the French author
Charles Maurras (1868-1957) and the “maurrassisme”, the movement grown
around him, during the years of the Great War. This is done by answering three
questions: what was the beahviour of L’Action française; whether the Maurras
ideas have been changing; what happened after the victory against the «barbaric»
Germany. It is only recently that the different strategies adopted by Maurras and
his movement over the ‘war winds’ have been deeply investigated. The results of
these researches constitute an opportunity to discuss Maurras’s political thought
from a different perspective
Milano e il Naviglio Martesana : un complesso termale a Cassina de' Pomm
No full textLAUREA MAGISTRALEIl progetto di realizzazione di un edificio termale lungo il Naviglio Martesana si inserisce nel processo di riscoperta e riuso del sistema delle acque milanesi, e in particolare prevede proprio la risistemazione di uno dei suoi tratti più significativi: il punto dove il Naviglio Martesana oggi si interrompe alla vista. Questo luogo in passato è stato caratterizzato anche dal passaggio dell’antica strada per Monza, tanto che i due tracciati, riconvertiti alle nuove esigenze della Milano contemporanea, permangono separati in questo punto dalla storica presenza della Cassina de’Pomm.A due isolati di distanza dal tracciato ferroviario della Stazione di Milano Centrale, in corrispondenza di una della principali arterie di traffico milanese, quale via Melchiorre Gioia, fino alla prima metà del Novecento scorreva a cielo aperto il Naviglio Martesana. La Cassina consente di identificare l’area di studio, situata dove attualmente si sviluppa il ‘Giardino Cassina de’ Pomm’ e rimarcare il punto in cui il Canale Martesana traccia un’ampia curva prima di scomparire sotto l’attuale via Melchiorre Gioia.Giungendo poi in prossimità di via De Marchi la Cassina e il Naviglio Martesana appaiono timidamente tra le corsie delle automobili e i palazzi che definisco in modo netto il fronte stradale. Pur avendo perduto il suo ruolo storico, quest’area permane comunque come un luogo di grande importanza nello sviluppo della vita collettiva di questa parte di città.La pista ciclabile che segue il percorso del canale lungo l’alzaia assieme ai giardini e alla cascina, oggi nota come “caffè Martesana”, sono luoghi particolarmente apprezzati per la tranquillità tipica di una condizione extra-urbana che qui è ancora ben percepibile. Seguendone il percorso a partire dal suo incile e proseguendo attraverso i paesi della provincia, risulta più immediato il legame che la Martesana instaurava con quest’area di Milano quando il canale scorreva ancora a cielo aperto, e da qui proseguiva per inserirsi nel sistema urbano delle acque. Tale luogo acquista dunque un duplice significato: non solo come punto in cui attualmente l’acqua si inabissa sotto il manto stradale, ma anche come storico riferimento nel percorso della Martesana che ne identifica l’ingresso in città. La situazione che si presenta a cinque secoli di distanza è però molto differente: il canale si interrompe nei pressi della cascina, in corrispondenza della conca che regola il dislivello delle acque, e prosegue nascosto alla vista sotto il sedime stradale.Il tema dell’edificio termale è il risultato di una fusione tra soluzioni provenienti da periodi e contesti culturali molto diversi tra loro, ma particolarmente adatti al progetto elaborato per l’area della Cassina: qui le necessità di benessere richieste dalla società contemporanea si uniscono all’idea più classica di luogo per il tempo libero in cui intrattenere relazioni ed avere uno scambio culturale.Come in molti esempi analizzati, il progetto è fortemente connesso alla presenza di un corso d’acqua su cui affacciarsi e con cui creare un legame di simbiosi. Ne deriva quindi una nuova idea di edificio termale, che mira a soddisfare le nuove esigenze di svago e mantenere un rapporto con il contesto in cui sorge
Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum.
No full text- …
