Binding femininity: an examination of the effects on tightlacing on the female pelvis

The corset in eighteenth and nineteenth century Europe was not merely an article of clothing. The corset was a complex and often contradictory social and cultural symbol. It symbolized both the sensual female body and the chaste virgin; the female control over male desires, and the male’s control over the female body. The ubiquity of the corset in the eighteenth and nineteenth century Europe is an important commentary on historical European society. Reports of women (and men) who have died as a result of the tightness of their corsets abound in the literature. Case studies from medical professionals provide information on the changes corsets wrought in the soft tissues of the women who wore them. However, to date, no systematic studies have been conducted which detail the changes in the bony pelvis. This study examines the effect of corseting upon the female and male pelvis of the Spitalfields skeletal collection, with consideration of consequential reduced fecundity and difficulties in parturition. Corseting status was determined through the presence or absence of compression on the ribs. Results show arcurate line length was significantly shorter in females with deformed ribs than in females with normal ribs, and the females with deformed ribs were significantly younger than the normal rib females. In addition, transverse diameter of the inlet and maximum femoral length approached significance, with females having deformed ribs being smaller. There was no significant relationship between pelvic contraction and deformed ribs, and deformed rib females retained a significantly larger pelvis than normal rib males. These data indicate that corseting did change the average size of the female pelvis, but not sufficiently to change the obstetrical sufficiency of the corseted pelvis

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

International audienceDevelopmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders