Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX (XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients. Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia. Mutations of XLIS have also been found in male patients with anterior subcortical band heterotopia and in female patients with normal brain magnetic resonance imaging. The thickness of the band and the severity of pachygyria correlate with the likelihood of developing severe epilepsy. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and infantile spasms with suppression-burst electroencephalograms. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene have not been confirmed. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1177/08830738050200040401 | DOI Listing |
Palliat Support Care
January 2025
Department of Obstetrics and Gynecology, Inova Fairfax Hospital, Falls Church, VA, USA.
Objectives: To incorporate a longitudinal palliative care curriculum into obstetrics and gynecology (Ob-Gyn) residency that could become standardized to ensure competencies in providing end of life (EOL) care.
Methods: This was a prospective cohort study conducted among 23 Ob-Gyn residents at a tertiary training hospital from 2021 to 2022. A curriculum intervention was provided via lecture and simulation.
Palliat Support Care
January 2025
Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Canada.
Objectives: Explore humanitarian healthcare professionals' (HCPs) perceptions about implementing children's palliative care and to identify their educational needs and challenges, including learning topics, training methods, and barriers to education.
Methods: Humanitarian HCPs were interviewed about perspectives on children's palliative care and preferences and needs for training. Interviews were transcribed, coded, and arranged into overarching themes.
While telegenetic counseling has increased substantially since the start of the COVID-19 pandemic, previous studies reported concerns around building rapport, nonverbal communication, and the patient-counselor relationship. This qualitative evaluation elicited feedback from genetic counselors, referring clinicians, and patients from a single healthcare organization to understand the user-driven reasons for overall satisfaction and experience. We conducted 22 in-depth, semi-structured interviews with participants from all 3 groups between February 2022 and February 2023.
View Article and Find Full Text PDFAlkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFDistal tibial fractures are common lower-limb injuries and are generally associated with a high risk of postoperative complications, especially in patients with multiple medical comorbidities. This study sought to ascertain the efficacy of retrograde intramedullary tibial nails (RTN) for treating extra-articular distal tibial fractures in high-risk patients. Between January 2019 and December 2021, 13 patients considered at high risk for postoperative complications underwent RTN fixation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!