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Journal of Medical Ultrasound 2023This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC... (Review)
Review
This article reviews the literature on different methods of prenatal ultrasound visualization of the optic chiasm (OC) and its applications. Prenatal imaging of the OC is feasible from 19 to 37 weeks of gestation. Evaluation of the OC has been shown crucial in differentiating isolated agenesis of the septum pellucidum from septo-optic dysplasia. Multiple methods can be applied for imaging of the OC, including three-dimensional and two-dimensional ultrasounds in different views, as well as color Doppler. According to the literature, both transabdominal and transvaginal routes produce equally acceptable images. OC visualization might be challenging but can be achieved by developing a standard scanning protocol and raising awareness.
PubMed: 38025017
DOI: 10.4103/jmu.jmu_69_23 -
Cancers Dec 2023Barrett's esophagus (BE) was initially defined in the 1950s as the visualization of gastric-like mucosa in the esophagus. Over time, the definition has evolved to... (Review)
Review
Barrett's esophagus (BE) was initially defined in the 1950s as the visualization of gastric-like mucosa in the esophagus. Over time, the definition has evolved to include the identification of goblet cells, which confirm the presence of intestinal metaplasia within the esophagus. Chronic gastro-esophageal reflux disease (GERD) is a significant risk factor for adenocarcinoma of the esophagus, as intestinal metaplasia can develop due to GERD. The development of adenocarcinomas related to BE progresses in sequence from inflammation to metaplasia, dysplasia, and ultimately carcinoma. In the presence of GERD, the squamous epithelium changes to columnar epithelium, which initially lacks goblet cells, but later develops goblet cell metaplasia and eventually dysplasia. The accumulation of multiple genetic and epigenetic alterations leads to the development and progression of dysplasia. The diagnosis of BE requires the identification of intestinal metaplasia on histologic examination, which has thus become an essential tool both in the diagnosis and in the assessment of dysplasia's presence and degree. The histologic diagnosis of BE dysplasia can be challenging due to sampling error, pathologists' experience, interobserver variation, and difficulty in histologic interpretation: all these problems complicate patient management. The development and progression of Barrett's esophagus (BE) depend on various molecular events that involve changes in cell-cycle regulatory genes, apoptosis, cell signaling, and adhesion pathways. In advanced stages, there are widespread genomic abnormalities with losses and gains in chromosome function, and DNA instability. This review aims to provide an updated and comprehensible diagnostic approach to BE based on the most recent guidelines available in the literature, and an overview of the pathogenetic and molecular mechanisms of its development.
PubMed: 38136271
DOI: 10.3390/cancers15245725 -
Brain : a Journal of Neurology Feb 2024Focal cortical dysplasias are a common subtype of malformation of cortical development, which frequently presents with a spectrum of cognitive and behavioural...
Focal cortical dysplasias are a common subtype of malformation of cortical development, which frequently presents with a spectrum of cognitive and behavioural abnormalities as well as pharmacoresistant epilepsy. Focal cortical dysplasia type II is typically caused by somatic mutations resulting in mammalian target of rapamycin (mTOR) hyperactivity, and is the commonest pathology found in children undergoing epilepsy surgery. However, surgical resection does not always result in seizure freedom, and is often precluded by proximity to eloquent brain regions. Gene therapy is a promising potential alternative treatment and may be appropriate in cases that represent an unacceptable surgical risk. Here, we evaluated a gene therapy based on overexpression of the Kv1.1 potassium channel in a mouse model of frontal lobe focal cortical dysplasia. An engineered potassium channel (EKC) transgene was placed under control of a human promoter that biases expression towards principal neurons (CAMK2A) and packaged in an adeno-associated viral vector (AAV9). We used an established focal cortical dysplasia model generated by in utero electroporation of frontal lobe neural progenitors with a constitutively active human Ras homolog enriched in brain (RHEB) plasmid, an activator of mTOR complex 1. We characterized the model by quantifying electrocorticographic and behavioural abnormalities, both in mice developing spontaneous generalized seizures and in mice only exhibiting interictal discharges. Injection of AAV9-CAMK2A-EKC in the dysplastic region resulted in a robust decrease (∼64%) in the frequency of seizures. Despite the robust anti-epileptic effect of the treatment, there was neither an improvement nor a worsening of performance in behavioural tests sensitive to frontal lobe function. AAV9-CAMK2A-EKC had no effect on interictal discharges or behaviour in mice without generalized seizures. AAV9-CAMK2A-EKC gene therapy is a promising therapy with translational potential to treat the epileptic phenotype of mTOR-related malformations of cortical development. Cognitive and behavioural co-morbidities may, however, resist an intervention aimed at reducing circuit excitability.
Topics: Child; Humans; Mice; Animals; Focal Cortical Dysplasia; Epilepsy; TOR Serine-Threonine Kinases; Protein Serine-Threonine Kinases; Seizures; Genetic Therapy; Malformations of Cortical Development; Mammals
PubMed: 38100333
DOI: 10.1093/brain/awad387 -
Journal of ISAKOS : Joint Disorders &... Oct 2023To analyze the effect of patellofemoral anatomical variations (patella alta, increased tibial tubercle-trochlear groove [TT-TG] distance, and trochlear dysplasia) on... (Review)
Review
OBJECTIVES
To analyze the effect of patellofemoral anatomical variations (patella alta, increased tibial tubercle-trochlear groove [TT-TG] distance, and trochlear dysplasia) on clinical outcomes after isolated medial patellofemoral ligament (MPFL) reconstruction.
METHODS
A comprehensive search from PubMed, Embase, and the Cochrane Library databases was conducted to identify studies that compared outcomes based on the presence or absence of patella alta, elevated tibial tubercle-trochlear groove (TT-TG) distance, and/or trochlear dysplasia. Exclusion criteria included reviews and meta-analyses, studies that included patients who underwent associated bony procedures, and those reporting outcomes after isolated MPFL reconstruction with no comparison between varying anatomical groups.
RESULTS
After application of selection criteria, 19 studies were included. Patella alta was not predictive of failure or poorer outcomes among 13 studies; however, 2 studies demonstrated poorer patient-reported outcome scores and/or higher failure rates with increasing patellar height. Increasing TT-TG distance demonstrated a statistically significant correlation with poorer outcomes in only one study, whereas 12 other studies showed no association. Trochlear dysplasia resulted in worse outcomes and greater failure rates in 6 studies, while 10 studies showed no statistically significant correlation between trochlear dysplasia and postoperative outcomes.
CONCLUSION
Patella alta and increased TT-TG distance did not adversely affect outcomes following isolated MPFL reconstruction in the preponderance of reviewed studies. Data are mixed regarding the impact of trochlear dysplasia on the outcomes of isolated MPFL reconstruction.
LEVEL OF EVIDENCE
IV.
Topics: Humans; Patellar Dislocation; Patellofemoral Joint; Patella; Joint Instability; Recurrence; Patient Reported Outcome Measures
PubMed: 37562573
DOI: 10.1016/j.jisako.2023.08.001 -
Children (Basel, Switzerland) Jun 2023Bronchopulmonary dysplasia (BPD), a disorder characterized by arrested lung development, is a frequent cause of morbidity and mortality in premature infants. Parenchymal... (Review)
Review
Bronchopulmonary dysplasia (BPD), a disorder characterized by arrested lung development, is a frequent cause of morbidity and mortality in premature infants. Parenchymal lung changes in BPD are relatively well-characterized and highly studied; however, there has been less emphasis placed on the role that airways disease plays in the pathophysiology of BPD. In preterm infants born between 22 and 32 weeks gestation, the conducting airways are fully formed but still immature and therefore susceptible to injury and further disruption of development. The arrest of maturation results in more compliant airways that are more susceptible to deformation and damage. Consequently, neonates with BPD are prone to developing airway pathology, particularly for patients who require intubation and positive-pressure ventilation. Airway pathology, which can be divided into large and small airways disease, results in increased respiratory morbidity in neonates with chronic lung disease of prematurity.
PubMed: 37508624
DOI: 10.3390/children10071127 -
BMJ Paediatrics Open Oct 2023To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis.
METHOD
A literature search was conducted in April 2023, using databases such as Cochrane Library, PubMed, MEDLINE, CNKI, and SinoMed, without language restrictions. Eligible studies included cross-sectional studies reporting the prevalence of DDH among infants aged 0-12 months. Two independent reviewers manually selected and coded the studies, with any disagreements resolved by a third reviewer. Meta-analysis was performed using a random-effects model to calculate the prevalence of DDH. Regression analysis examined the trend of DDH prevalence, and stratification analysis explored heterogeneity between studies.
RESULTS
A total of 65 studies involving 3 451 682 infants were included in the meta-analysis. None of the studies were classified as high quality, four were medium-to-high quality, 50 were low-to-medium quality, and eight were low quality. The pooled prevalence of DDH was 1.40% (95% CI: 0.86 to 2.28, I=100%), and prevalence of dysplasia, subluxation, and dislocation was 1.45% (95% CI: 0.93 to 2.24, I=97%), 0.37% (95% CI: 0.22 to 0.60, I=94%), and 0.21% (95% CI: 0.13 to 0.34, I=92%), respectively. Notably, the overall prevalence has a slight upward trend in the last three decades (β=0.24, p=0.35), but the dysplasia was downward trend (β=-0.48, p<0.01). Girls have higher risk of DDH than boys (1.46% vs 0.66%; Q=5.83, df=1, p=0.02). There were no significant differences based on gender, country, setting, or screening technique.
CONCLUSION
The prevalence of DDH among infants is approximately one in a 100, with girls being at higher risk. Though the prevalence of dysplasia has decreased, there is a slight upward trend in overall DDH. Therefore, routine screening for DDH in infants is recommended to prevent more serious developmental problems.
Topics: Male; Female; Humans; Infant; Prevalence; Cross-Sectional Studies; Developmental Dysplasia of the Hip; Hip Dislocation, Congenital; Mass Screening
PubMed: 37879719
DOI: 10.1136/bmjpo-2023-002080 -
Indian Dermatology Online Journal 2024Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat... (Review)
Review
Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.
PubMed: 38845644
DOI: 10.4103/idoj.idoj_599_23 -
Cureus Oct 2023Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin,...
Ectodermal dysplasia (ED) is a rare genetic disorder that affects the developmental disturbance of ectoderm-derived tissues, organs, and accessory appendages, i.e. skin, hair, tooth, nail, and sweat glands. ED has two types hypohidrotic or anhidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. We report this case of classical hypohidrotic ectodermal dysplasia (HED) with clubbing. The association of clubbing with HED is still rare. This case report aims to discuss the etiology, clinical manifestations, and management of ectodermal dysplasia. A multidisciplinary approach is required including dentists, nutritionists, dermatologists, and physicians to manage ectodermal dysplasia.
PubMed: 37927739
DOI: 10.7759/cureus.46530 -
Journal of ISAKOS : Joint Disorders &... Jan 2024Patellofemoral arthroplasty (PFA) is emerging as an attractive alternative to total knee arthroplasty (TKA) for isolated patellofemoral-osteoarthritis (PF-OA) for...
Patellofemoral arthroplasty (PFA) is emerging as an attractive alternative to total knee arthroplasty (TKA) for isolated patellofemoral-osteoarthritis (PF-OA) for selected patients. The success of PFA is highly dependent on patient selection. This intervention is still burdened with a higher rate of revisions and a lower survival rate than TKA when the indications or the surgical technique are not optimal. We highlight the indications and contraindications of PFA to obtain satisfying functional outcomes and survivorship. Preoperative clinical and radiological assessment is critical to determine the presence of PFA indications, the absence of contraindications and the necessity of any associated procedures, particularly for the tibial tubercle. The typical indications are patients with isolated symptomatic PF-OA, with trochlear dysplasia, when bone-on-bone Iwano 4 osteoarthritis is observed, without significant malalignment and with the absence of risk factors for developing progressive tibiofemoral-OA. The three main causes of isolated PF-OA are primary OA, trochlear dysplasia and posttraumatic OA following patellar fracture. Trochlear dysplasia is the preferred indication for PFA. Lack of experience with arthroplasty or realignment of the extensor mechanism is a relative contraindication to performing PFA.
PubMed: 38185247
DOI: 10.1016/j.jisako.2024.01.003 -
Experimental Neurology Dec 2023Preterm birth is a public health priority worldwide, with approximately 15 million premature babies born each year. Oxygen supplementation is one of the most common... (Review)
Review
Preterm birth is a public health priority worldwide, with approximately 15 million premature babies born each year. Oxygen supplementation is one of the most common interventions for preterm infants. However, prolonged oxygen inhalation at supraphysiological concentrations can lead to the development of bronchopulmonary dysplasia (BPD). In addition to lifelong pulmonary sequelae, clinical evidence suggests that BPD is associated with adverse neurodevelopmental outcomes, such as motor impairment, cognitive impairment, and behavioral deficits, severely affecting the quality of life of preterm infants. However, the mechanisms underlying the combination of neurodevelopmental impairment with BPD remain unclear. Therefore, in recent years, attention has also been focused on the effects of hyperoxia on brain development in preterm infants. In this review, we outline the pathophysiological mechanisms of brain injury caused by developmental hyperoxia exposure in current animal models and briefly describe the pharmacological therapies that may be applicable to the associated brain injury. Overall, more studies are needed to assess the effects of hyperoxia on the immature brain, particularly combined analyses of the lungs and brain in the same experimental setting, to elucidate the potential causes of combined neurodevelopmental impairment in BPD.
Topics: Infant; Animals; Female; Infant, Newborn; Humans; Infant, Premature; Hyperoxia; Quality of Life; Premature Birth; Bronchopulmonary Dysplasia; Brain Injuries; Brain
PubMed: 37774766
DOI: 10.1016/j.expneurol.2023.114550