China
Africa
Explore chapters and articles related to this topic
Introduction
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo
When Charles Darwin wanted to convince a highly skeptical scientific community and general public that we evolved from other primates in The Descent of Man (1871), he started by discussing human anatomical variations and anomalies. Why? Because he knew that a strong way to show that we descend from other animals is to highlight the commonalities we share with them and particularly, the commonalities that are only present in some humans, as a reminder of the nonhuman ancestors we had several millions of years ago. Our anatomical variations and anomalies, in particular those that are related to the presence of evolutionary reversions, are indeed the most direct, strong evidence of our evolutionary past. This is because there are features that are present in adults of other species that are typically absent in humans, but for some reason can still be found in some human adults. The most likely scientific explanation, Darwin argued, is that such features were present in our adult ancestors and then were evolutionary lost but evolutionarily “re-acquired.” Not only that: even for some anatomical features that appear in humans that have nothing to do with traits typically present in other animals, these usually also show that we share evolutionary and developmental commonalities with them because such variations and anomalies are also present in some cases within other species. For instance, one of the more severe malformations in humans is cyclopia, the presence of a single eye. We never had an ancestor that was truly a cyclops, but many other mammals also have cyclopic malformations.
Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
Mutations in many different genes have been found to cause holoprosencephaly. Mutations in the gene Sonic Hedgehog (SHH) have been found to account for 3.7% of all cases of holoprosencephaly and about 17% of cases of familial holoprosencephaly (30-32). The Sonic Hedgehog protein is a signaling molecule that initiates a cascade of events that eventually leads to activation and transcription of a group of target genes. The pattern of Shh expression in vertebrates is largest in the developing head region (33). In the mouse, gene expression of Shh has been found, among other places, in the notochord and floorplate of the neural tube. In addition, disruption of the Shh gene expression in the mouse has been found to cause cyclopia with absence of the ventral neural tube cells (30). More recently, in 2002, Ahlgren et al. (33) demonstrated a marked downregulation of Shh in chick embryos exposed to alcohol at embryonic stage 9–10, with resultant cranial neural crest cell death and decreased size of the frontonasal mass. This effect could be rescued by administration of Shh protein. In addition, they found similar craniofacial phenotypes in chick embryos treated with antibodies that block Shh signaling. Therefore, data from Ahlgren et al. (33) support the theory that alcohol causes neural crest cell death, possibly by inhibiting the Sonic Hedgehog pathway, therefore leading to many of the craniofacial and neurodevelopmental abnormalities observed in FAS.
Growth of the Orbit
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Some of the grossest orbital malformations occur in holoprosencephaly. “In alobar prosencephaly, the embryonic forebrain fails to cleave sagittally into cerebral hemispheres, transversely into telencephalon and diencephalon, and horizontally into olfactory and optic bulbs” (Cohen, 1986). There may result the single median orbit of cyclopia, with or without a tubular proboscis above, with eye development varying from anophthalmia, or monophthalmia to synophthalmia; ethmocephaly with hypotelorism and absent nose; or premaxillary agenesis, again with hypotelorism, which also occurs in cebocephaly where there is a single nostril nose (Cohen et al. in Bergsma, 1971; Cohen and Sulik, 1992). Currarino and Silverman (1960) and Silverman (1965) described hypotelorism in association with trigonocephaly and arrhinen-cephaly (part of the spectrum of holoprosencephaly). McGrath (1989, 1992) and McGrath and Sperber (1990) gave detailed descriptions of the structure and contents of the median orbit in human cyclopia. In the absence of some nasal structures — mesethmoid (crista galli, perpendicular plate of the ethmoid and adjacent portion of the cribriform plate), nasal septum, and vomer — and parts of the medial walls of the orbits, the frontais approach each other above the single cavity, and the maxillae fuse below to form a floor, which also incorporates the lacrimal and palatine bones, and which extends further backwards than normal because the presphenoid is absent. The ectethmoid conchae do develop.
Protective effects of fermented honeybush (Cyclopia intermedia) extract (HU-018) against skin aging: a randomized, double-blinded, placebo-controlled study
Published in Journal of Cosmetic and Laser Therapy, 2018
Sun Young Choi, Ji Yeon Hong, Eun Jung Ko, Beom Joon Kim, Sung-Woon Hong, Mi Hyoung Lim, Sung Hum Yeon, Rak Ho Son
Cyclopia intermedia, also referred to as honeybush, is a popular traditional herbal tea in its native South Africa and has a growing worldwide market. Cyclopia plants are rich in polyphenols including xanthones, flavones, isoflavones, flavanones, and soumestans (16–18). Of these various polyphenols, hesperidin has been shown to be an active marker compound of fermented C. intermedia extracts. Hesperidin is a bioactive flavonoid characterized by its antioxidant and antimutagenic properties. Many studies have demonstrated that hesperidin exerts diverse positive effects including antimicrobial activity, anti-carcinogenic activity, anti-melanogenic activity, and UV protective activity (19–22). Based on its biological effects, hesperidin is a popular active cosmetic ingredient of various anti-wrinkle and whitening products(23). Therefore, we focused on the potential of C. intermedia, a source of hesperidin, as an effective anti-aging dietary supplement.
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Trisomy 18 (Edward Syndrome) and Trisomy 13 (Patau Syndrome) are also relatively frequently diagnosed in the context of fetal hydrops. Both are multisystem disorders with Edward syndrome characteristically recognized by the ultrasound demonstration of clenched hands and ‘rocker-bottom feet’. Midline defects are prominent in Patau syndrome with holoprosencephaly and cyclopia seen in addition to multisystem abnormalities. Fetal hydrops develops in 14% of fetuses with trisomy 18 and 3% of those with trisomy 13 [102].