Search results for " malformation"
showing 10 items of 185 documents
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
2014
SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specificall…
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
2014
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…
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.
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.
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…