Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. The genotype–phenotype correlation is not fully understood, but it has been hypothesised that type I BPES involves more severe loss of function variants spanning the whole gene. Type II BPES has been linked to frameshift mutations that result in elongation of the protein rather than complete loss of function. A mutational hotspot has been identified within the poly-alanine domain, although the exact function of this region is still unknown. However, the BPES subtype cannot be determined genetically, necessitating informed genetic counselling and careful discussion of family planning advice in view of the associated POF particularly as the patient may still be a child. Following puberty, female patients should be referred for ovarian reserve and response assessment. Oculofacial features can be managed with surgical intervention and regular monitoring to prevent amblyopia.
The anesthetic state and natural sleep share many neurobiological features and yet are two distinct states. The hallmarks of general anesthesia include hypnosis, analgesia, akinesia and anxiolysis. These are the principal parameters by which the anesthetic state differs from natural sleep. These properties are mediated by systemic administration of a combination of agents producing balanced anesthesia. The exact nature of anesthetic narcosis is dose dependent and agent specific. It exhibits a relative lack of nociceptive response and active suppression of motor and autonomic reflexes. Surgical anesthesia displays a signature electroencephalogram pattern of burst suppression that differs from rapid eye movement sleep, representing more widespread disruption of thalamocortical connectivity, impairing information integration and processing. These differences underpin successful anesthetic action. This review explores the differences between natural sleep and anesthetic-induced unconsciousness as induced by balanced anesthesia.
Little is known about the effect on load bearing ability of cam-type femurs following osteochondroplasty. The aim of this study was to compare the change in deformation undergone by cam-type femoral acetabular impingement femur models after resection of different volumes. Dry-bone replicas (N = 10) of two cam-type femurs (cam A and B) underwent resections of increasing volume (Surgery I, II and III) representing conservative, adequate and radical resections. Deformation under cyclic loading of 700 N for five cycles after each surgery was compared. The 360° alpha angle and the change in head to neck ratio at four equidistant points along the femoral neck were used as measures of surgical efficacy and volume resected. Intact cam A and B replicas had a maximum alpha angle of 88° and 90°, respectively, which were reduced to 55° and 54° post Surgery I. Cam A replicas showed a significant reduction (p < 0.01) in mean axial displacement after Surgery I (up to 10% reduction in neck volume) and an increase after Surgery III (~20%-40% reduction in neck volume) compared to unresected controls (p < 0.01). Surgery II (~10%-15% reduction in neck volume) produced no significant change in mean displacement (p > 0.05). Cam B models exhibited lower mean displacement after Surgery I, II and III (p < 0.01) compared to unresected controls. Conservative surgery appears to improve the axial load bearing ability of dry-bone models. Radical resections may significantly decrease the fracture-resistant properties of bone following osteochondroplasty which should be noted when planning such a procedure.
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