Search results for "Malformation"
showing 10 items of 208 documents
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…
HIFU for Bone Metastases and other Musculoskeletal Applications
2018
AbstractHigh-intensity focused ultrasound (HIFU) is a totally noninvasive procedure that has shown promising results in the management of numerous malignant and nonmalignant conditions. Under magnetic resonance or ultrasound guidance, high-intensity ultrasound waves are focused on a small, well-defined target region, inducing biologic tissue heating and coagulative necrosis, thus resulting in a precise and localized ablation. This treatment has shown both great safety and efficacy profiles, and may offer a multimodal approach to different diseases, providing pain palliation, potential local tumor control, and, in some cases, remineralization of trabecular bone. In musculoskeletal field, HIF…
Interstitial pregnancy in a patient with ipsilateral adnexal absence: Case report and literature review
2013
Unilateral ovarian absence (UOA) with fallopian tube absence is a rare condition. The true incidence is unknown. Here, we report a case of a woman with left tubal and ovarian absence, undergoing laparoscopy for an ipsilateral interstitial pregnancy (IP). The gestational mass was excided using the purse string technique to achieve better haemostasis. Probable etiologies are discussed and literature reviewed. According to our analysis the reproductive outcome of women affected by this rare anomaly is not compromised. Its impairment should be related to comorbidities or other unexplained causes. © Copyright 2014, CIC Edizioni Internazionali, Roma.
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…
2021
Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…
Oral encapsulated vascular malformation: an undescribed presentation in the mouth
2016
Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity.
Chronic cerebrospinal venous insufficiency is unlikely to be a direct trigger of multiple sclerosis
2013
Abstract Background Chronic cerebrospinal venous insufficiency, a vascular pathology affecting the veins draining the central nervous system can accompany multiple sclerosis and is suspected to be involved in its pathogenesis. Objective This study was aimed at exploring a potential role for chronic cerebrospinal venous insufficiency in triggering multiple sclerosis. If it were venous abnormalities responsible for neurological pathology, one should expect negative correlation, i.e. more severe vascular lesions in the patients with early onset of multiple sclerosis. Methods Localization and degree of venous blockages in 350 multiple sclerosis patients were assessed using catheter venography. …
Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites
2010
Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.
Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.
2015
Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…
Congenital Pediatric Diseases
2008
Major congenital malformations are diagnosed in 4%–6% of all infants and fetuses (Lynberg and Edmonds 1992). About one third of them are the leading cause for infant mortality or morbidity (Grandjean et al. 1999). Malformations of the internal urogenital system are diagnosed in about 1% of all infants and account for approximately 20% of all congenital malformations, thus being one of the three most frequent birth defects (Table 11.1.1). Therefore a pre- and/or postnatally performed ultrasound screening for malformations of the internal urogenital system should be part of the routine to reduce perinatal mortality and morbidity. The reliability and value of ultrasonographic screening for con…
Antenatal Ultrasound Diagnosis of Congenital Malformations of the Urinary Tract: Results and Criticism
1986
From October 1979 to June 1983 220 malformations were diagnosed antenatally at our hospital; 55 (25%) were malformations of the urinary tract, 21 of them hydronephroses and 34 of them dysplasias.