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BMJ Case Reports Jun 2014
Topics: Cleft Palate; Congenital Abnormalities; Heart Septal Defects, Ventricular; Holoprosencephaly; Humans; Infant, Newborn; Male; Microcephaly; Nose; Syndrome
PubMed: 24913079
DOI: 10.1136/bcr-2014-203535 -
Microbiology Spectrum Jun 2023Mycotoxins produced by several Fusarium species have a significant effect on reducing maize yield and grain quality and have led to food safety concerns. The antifungal...
Mycotoxins produced by several Fusarium species have a significant effect on reducing maize yield and grain quality and have led to food safety concerns. The antifungal activities of rooibos (Aspalathus linearis) and honeybush ( species) tea extracts reduced the growth of plant pathogen Botrytis cinerea, but their efficacy against Fusarium spp. is unknown. In this study, we examined the effects of fermented and unfermented rooibos () and honeybush (Cyclopia subternata) aqueous extracts as well as green tea (Camellia sinensis) against 10 Fusarium species. Conidial viability was assessed by fluorescence microscopy dyes, ATP production was determined using the BacTiter-Glo assay, the mode of action was analyzed by scanning electron microscopy (SEM), and quantification of polyphenols was done using high-performance liquid chromatography with diode array detection (HPLC-DAD). Fermented rooibos extract demonstrated the highest antifungal activity ( < 0.0001) against Fusarium verticillioides MRC 826-E, Fusarium subglutinans MRC 8553, Fusarium proliferatum MRC 8549, and Fusarium globosum MRC 6647, with only 9.53%, 9.26%, 11.0%, and 12.7% ATP production, respectively, followed by antifungal activity of the fermented extract against MRC 8553, MRC 8554, F. proliferatum MRC 8550, and F. verticillioides MRC 826-E with 3.79%, 6.04%, 6.04%, and 8.40% ATP production, respectively. Extract-treated conidia examined by SEM exhibited disruption of conidial hyphae and collapsed spores. Overall, the fermented rooibos and extracts showed higher antifungal activity against the Fusarium species than the unfermented extracts. In maize subsistence farming areas in South Africa, daily consumption of maize contaminated by high level of mycotoxins contributes to long-term health effects such as immune deficiency and cancer. Biocontrol methods that are safe and cost-effective are critical to addressing this public health problem. Plant extracts known as biocides or green pesticides are alternatives to chemical pesticides due to their safety and eco-friendly properties. In South Africa, rooibos (Aspalathus linearis) and honeybush ( species) contain polyphenols with significant antioxidant and antimicrobial properties. These indigenous herbal teas are widely available and consumed in South Africa and have potential as an innovative approach to reduce mycotoxin levels and, subsequently, human and animal exposure to these toxins. This study evaluates the efficacy of the antifungal activities of several aqueous extracts prepared from fermented and unfermented rooibos (), honeybush (Cyclopia subternata), and green tea (Camellia sinensis) on 10 Fusarium strains.
Topics: Animals; Humans; Aspalathus; Antifungal Agents; Fusarium; Fabaceae; Polyphenols; Tea; Camellia sinensis; Mycotoxins; Adenosine Triphosphate
PubMed: 37222581
DOI: 10.1128/spectrum.02742-22 -
The Indian Journal of Medical Research Nov 2020
Topics: Holoprosencephaly; Humans; Karyotype
PubMed: 35345119
DOI: 10.4103/ijmr.IJMR_1893_19 -
Taiwanese Journal of Obstetrics &... Jun 2015To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature. (Review)
Review
OBJECTIVE
To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature.
MATERIALS AND METHODS
A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia. Molecular and conventional cytogenetic analyses were made to determine the genetic pathogenesis of fetal abnormalities.
RESULTS
The father had a karyotype of 46,XY,t(3;7)(p22.1;q36.1). The mother had a karyotype of 46,XX. The fetus had a karyotype of 46,XY,der(7)t(3;7)(p22.1;q36.1)pat. The analysis of array comparative genomic hybridization analysis revealed a 43.68-Mb duplication of 3p26.3-3p22.1 encompassing CHL1 and CNTN4, and an 8.66-Mb deletion of 7q36.1-7q36.3 encompassing SHH in the fetus.
CONCLUSION
Simultaneous occurrence of 7q deletion and 3p duplication can be associated with alobar holoprosencephaly. For the couple with a parental translocation involving 7q and 3p, prenatal ultrasound should include a detailed investigation of central nervous system anomalies.
Topics: Adult; Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 7; Edema; Female; Holoprosencephaly; Humans; Karyotype; Nuchal Translucency Measurement; Pregnancy
PubMed: 26166345
DOI: 10.1016/j.tjog.2015.04.001 -
Scientific Reports May 2019The ill-named "logic of monsters" hypothesis of Pere Alberch - one of the founders of modern evo-devo - emphasized the importance of "internal rules" due to strong... (Comparative Study)
Comparative Study
The ill-named "logic of monsters" hypothesis of Pere Alberch - one of the founders of modern evo-devo - emphasized the importance of "internal rules" due to strong developmental constraints, linked teratologies to developmental processes and patterns, and contradicted hypotheses arguing that birth defects are related to a chaotic and random disarray of developmental mechanisms. We test these hypotheses using, for the first time, anatomical network analysis (AnNA) to study and compare the musculoskeletal modularity and integration of both the heads and the fore- and hindlimbs of abnormal cyclopic trisomy 18 and anencephalic human fetuses, and of normal fetal, newborn, and adult humans. Our previous works have shown that superficial gross anatomical analyses of these specimens strongly support the "logic of monsters" hypothesis, in the sense that there is an 'order' or 'logic' within the gross anatomical patterns observed in both the normal and abnormal individuals. Interestingly, the results of the AnNA done in the present work reveal a somewhat different pattern: at least concerning the musculoskeletal modules obtained in our AnNA, we observe a hybrid between the "logic of monsters" and the "lack of homeostasis" hypotheses. For instance, as predicted by the latter hypothesis, we found a high level of left-right asymmetry in the forelimbs and/or hindlimbs of the abnormal cyclopic trisomy 18 and anencephalic human fetuses. That is, a network analysis of the organization of/connection between the musculoskeletal structures of these fetuses reveals a more "chaotic" pattern than that detected by superficial gross anatomical comparisons. We discuss the broader developmental, evolutionary, and medical implications of these results.
Topics: Adult; Anencephaly; Arm; Female; Fetal Development; Fetus; Head; Holoprosencephaly; Homeostasis; Humans; Infant, Newborn; Leg; Male; Musculoskeletal Development; Teratogenesis; Teratology
PubMed: 31127169
DOI: 10.1038/s41598-019-44314-z -
BMJ Case Reports Aug 2017Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye...
Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.
Topics: Craniofacial Abnormalities; Ear, External; Female; Holoprosencephaly; Humans; Infant, Newborn; Jaw Abnormalities; Live Birth; Microstomia; Stillbirth
PubMed: 28855214
DOI: 10.1136/bcr-2017-220159 -
Journal of Anatomy Sep 2015The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed...
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.
The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain, face and their skeletal support.
Topics: Brain; Cadaver; Chromosome Aberrations; Chromosomes, Human, Pair 18; Face; Gestational Age; Holoprosencephaly; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 26278930
DOI: 10.1111/joa.12343 -
Revista Medica de Chile Jul 2015Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of...
BACKGROUND
Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity.
AIM
To estimate holoprosencephaly prevalence at birth.
PATIENTS AND METHODS
All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described.
RESULTS
Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed.
CONCLUSIONS
Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).
Topics: Adolescent; Adult; Chile; Cleft Lip; Cleft Palate; Female; Holoprosencephaly; Humans; Live Birth; Male; Maternal Age; Prevalence; Sex Factors; Stillbirth; Young Adult
PubMed: 26361024
DOI: 10.4067/S0034-98872015000700008 -
Canadian Medical Association Journal Feb 1955
Topics: Abnormalities, Severe Teratoid; Animals; Copepoda; Holoprosencephaly; Humans; Minocycline
PubMed: 13231020
DOI: No ID Found -
Scientific Reports Jan 2019This paper is part of the emerging field of Evolutionary Developmental Pathology, dedicated to study the links between normal and abnormal development, evolution and...
This paper is part of the emerging field of Evolutionary Developmental Pathology, dedicated to study the links between normal and abnormal development, evolution and human pathologies. We analyzed the head musculoskeletal system of several 'natural mutant' newborn lambs displaying various degrees of abnormality, from mild defects to cebocephaly and to cyclopia, and compared them with humans. Interestingly, muscle defects are less marked than osteological ones, and contrarily to the latter they tend to display left-right assymetries. In individuals with cebocephalic and even cyclopic skulls almost all head muscles are normal. The very few exceptions are some extraocular muscles and facial muscles that normally attach to osteological structures that are missing in the abnormal heads: such muscles are instead attached to the 'nearest topological neighbor' of the missing osteological structure, a pattern also found in cyclopic humans. These observations support Alberch's ill-named "logic of monsters" - as a byproduct of strong developmental/topological constraints anatomical patterns tend to repeat themselves, even severe malformations displayed by distantly related taxa. They also support the idea that mammalian facial muscles reverted to an ancestral 'nearest-neighbor' muscle-bone type of attachment seen in non-vertebrate animals and in vertebrate limbs, but not in other vertebrate head muscles.
Topics: Animals; Animals, Newborn; Biological Evolution; Head; Holoprosencephaly; Humans; Infant, Newborn; Musculoskeletal Abnormalities; Principal Component Analysis; Sheep, Domestic
PubMed: 30700788
DOI: 10.1038/s41598-018-37735-9