A confirmation of VNS safety may increase its use during pregnancy, thus reducing possible systemic effects of antiepileptic drugs and antidepressants on the women and the baby.
: Down Syndrome (DS) is an essential genetic disease that involves many other body systems along with cerebral functions. The postnatal approach to treat this genetic disease includes intervention on various related disorders (e.g., heart failure, respiratory, oral, ear, and hearing disorders). However, different proposed treatments do not significantly improve the quality of life of these subjects. Another approach to the treatment of DS considering the possibility to intervene on the embryo was recently introduced. As of this, the current study has reviewed different outcomes regarding DS treatment in an animal model, namely the Ts65Dn mouse. The obtained results encouraged spending more time, efforts, and resources in this field. Besides, various treatment strategies were tried to include genetic modification, treatment with vasoactive intestinal peptide derivatives or fluoxetine. However, the main obstacle to the use of these possible treatments is the ethical issues it raises. The progression of the pregnancy in spite of awareness that DS affects the unborn and prenatal treatment of DS injured embryo are relevant dilemmas. Thus, talented researchers should spend more efforts to improve the quality of life for people affected by DS, which will allow probably a better approach to the ethical issues.
The Gollop-Wolfgang Complex (GWC, MIM% 228 250) is a skeletal disorder characterized by the association of bifid femur, tibial agenesia, and ectrodactyly with a frequently asymmetric pattern. Since this disorder was first described by Gollop et al. (1980), only 33 cases showing the typical limb abnormalities of GWC have been reported, some of which were affected by a more complex multiple-malformation condition (van de Kamp, 2005).Here we describe a GWC case that was diagnosed prenatally. This was the first pregnancy of a healthy, nonconsanguineous couple. The mother was 39 years old at conception. The family history was unremarkable, and no fetal exposure to drugs or medications, alcohol, tobacco smoke, or other teratogenic substances was referred. The pregnancy had been complicated by threatened miscarriage in the 7th and 13th gestational week. In the 20th week an ultrasound scan revealed a complex skeletal malformation with bifid distal right femur, right tibial agenesis (Figure 1), contracture of the right knee, club feet with two metatarsal bones and three digits missing on the right and one metatarsal bone and one digit missing on the left, and an abnormal right hand with agenesis of the first metacarpal bone and of the first three fingers. The length of the right radius and left tibia were on the 10th centile, while all the other long bones were on the 50th centile.The couple was counseled, and amniocentesis was offered and subsequently performed: The fetal karyotype was normal (46,XX). The pregnancy was terminated and laboratory and histological examinations were carried out on the fetus. Karyotype examination on fetal fibroblasts and an array-CGH analysis on fetal blood taken by umbilical cord were normal. Karyotyping was performed using standard cytogenetic techniques. Array-CGH analysis was conducted using a 0.5 Mb resolution BAC
The main prognostic feature associated with a poor outcome of umbilical vein aneurysm seems to be the presence of other anomalies. Early diagnosis is associated with a somewhat worse prognosis, and most fetal deaths have been observed between 27 and 30 weeks of gestation. In the third trimester, it is reasonable to perform serial ultrasound examinations to assess fetal growth, the size of the aneurysm, and the blood flow pattern within the aneurysm.
BackgroundIn the medical literature are described only few clinical cases of esophageal food bolus impaction due to esophageal motility disorders. Moreover, the management of this condition is highly variable with no evidence in the literature to strongly support a clear defined intervention.Case presentationIn this paper we describe for the first time a case of 53-year-old male with food bolus impaction due to Jackhammer esophagus referred to emergency department. On the basis of the known esophageal past medical history as well as the absence of bones in the bolus, the patient was submitted to a new conservative treatment, the “Nitro-Push Blind Technique”.ConclusionsThe new technique performed with naso-gastric tube thrust after nitrates medication in definite clinical case supported by known functional disease, represents a safe and successful method, with short observational period to minimize exposure to potential morbidity and reduce the inpatient stay in emergency department. It should be recommended, once validated in a larger cohort, as the initial treatment of choice in the selected patients with food boneless bolus impaction in the emergency settings. Indeed, this management provides only minimal deviation from the current practice and is hence technically easy to learn and perform.
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