Cause Of Malformations Research Articles

Evidence for and against manganese deficiency as causal for congenital joint deficiency disease or death in fetal and neonatal cattle.

Measures of manganese (Mn) status in cattle vary among studies, and no single criterion accurately predicts or diagnoses Mn deficiency and pathologic outcomes. Mn deficiency causes congenital joint laxity and dwarfism (CJLD) when total dietary intake is <20 ppm Mn dry matter (DM) for most of the pregnancy. However, the recommended dietary intake of 40 ppm DM can also result in clinical Mn deficiency. Some studies have found that CJLD occurs in calves from cows fed red clover or silage but not in calves from cows fed hay. The concentration of Mn in the liver is the best indicator of Mn status in neonates and adults but cannot be interpreted in fetuses. Serum, plasma, and whole blood concentrations of Mn are unreliable indicators of bovine Mn status. The primary objective of our report is to present evidence linking CJLD to a primary or secondary Mn deficiency. To predict and diagnose Mn deficiency in cattle, we propose using a combination of clinical signs, dietary Mn, liver Mn at birth and beyond, positive response to Mn supplementation or the replacement of silage with other forages, and ruling out other causes of malformations. By following these recommendations, we expect that CJLD and gestational death will decrease as hepatic Mn concentrations increase at birth. Many publications we reviewed are not statistically sound, and future research should include a statistician from the initial discussions of the study through the final publication.

Review of malformed frogs

This study reviewed the survey of malformed frogs and the probable causes of their deformities. It analysed the checklist and pattern of malformations in frogs and examined different malformations in frogs of selected articles. It also reviewed the causes of malformation in frogs of different articles. The reviewed showed that limb malformations with 22.41% was the most recorded malformations in frogs with pattern of publications revealed that there was varying trend in article publication which peaked in 2000 and 2023. Different malformations in frogs are abnormal skin, albinism, extra hindlimb, eye malformation. Others are lack of palms, appendages and appendicular, limb malformation, ectrodactyly, brachydactyly and ectrodactyly. The causes of malformations in frogs reviewed includes mutation, parasites, heavy metals, environmental stressors and ultraviolet light. The study concluded that human factors or anthropogenic activities played an important role in malformations in frogs reviewed.

A Brief Introduction to Violence and Symbolism in A Good Man Is Hard to Find

A Good Man is Hard to Find is one of the most important representative works of Flannery O'Connor, a famous American female Southern writer. As the prophet of the south world, with her crafty plot imagination talents, Flannery O’Connor composed lot of attractive stories and tried to induce the degenerated individuals in the south to know the truth of their faith and persuade the perplexed sheep to seek salvation from the almighty love of God. In this story, the characteristics reflected in the novel, the decline of belief and morality, and the loss of faith can be found everywhere, and that has attracted more and more attention of literary critics. What is more, O'Connor 's rich and profound symbolism, not only predicts the end of the story and the fate of the characters step by step but also conveys the author's general understanding and experience of religion, reality and humanity. This thesis will analyze the text of A Good Man is Hard to Find, exploring the underlying causes of malformation and violence, the symbolism usage, the crisis of the loss of religion in the south, and the way to achieve salvation through Jesus. In conclusion, there are some suggestions on how to eliminate crimes and enhance the social harmony.

Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

Precision Therapy for Epilepsy Related to Brain Malformations.

Malformations of cortical development (MCDs) represent a range of neurodevelopmental disorders that are collectively common causes of developmental delay and epilepsy, especially refractory childhood epilepsy. Initial treatment with antiseizure medications is empiric, and consideration of surgery is the standard of care for eligible patients with medically refractory epilepsy. In the past decade, advances in next generation sequencing technologies have accelerated progress in understanding the genetic etiologies of MCDs, and precision therapies for focal MCDs are emerging. Notably, mutations that lead to abnormal activation of the mammalian target of rapamycin (mTOR) pathway, which provides critical control of cell growth and proliferation, have emerged as a common cause of malformations. These include tuberous sclerosis complex (TSC), hemimegalencephaly (HME), and some types of focal cortical dysplasia (FCD). TSC currently represents the best example for the pathway from gene discovery to relatively safe and efficacious targeted therapy for epilepsy related to MCDs. Based on extensive pre-clinical and clinical data, the mTOR inhibitor everolimus is currently approved for the treatment of focal refractory seizures in patients with TSC. Although clinical studies are just emerging for FCD and HME, we believe the next decade will bring significant advancements in precision therapies for epilepsy related to these and other MCDs.

Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.

The increase in understanding of molecular biology and recent advances in genetic testing have caused rapid growth in knowledge of genetic causes of malformations of cortical development. Imaging diagnosis of malformations of cortical development can be made prenatally in a large subset of fetuses based on the presence of specific deviations from the normal pattern of development, characteristic imaging features, and associated non-central-nervous-system (CNS) abnormalities. In this review the authors discuss the role of four key cell molecules/molecular pathways in corticogenesis that are frequently implicated in complex prenatally diagnosed malformations of cortical development. The authors also list the currently described genes causing defects in these molecules/molecular pathways when mutated, and the constellation of imaging findings resultant of such defects.

Memories of the Teratology Society: 1972–2020

My career goal in 1971 was to learn about the causes of malformations. Attending the annual meetings of the Teratology Society and reading the articles in Teratology exposed me to the scientists and clinicians involved in this research and the methods being used. Over a period of 49 years (1972-2020), I heard many presentations about several exposures in pregnancy that can cause birth defects. Symposia and platform presentations provided unique and stimulating information on the fetal effects of the teratogen thalidomide. I developed research studies and presented the results from our studies on teratogenic exposures, such as anticonvulsant drugs, the prenatal diagnosis procedure chorionic villus sampling, and the abortifacient misoprostol. The annual Pregnancy Registry Workshop was developed as a forum for discussing issues related to this new method of evaluating potential teratogenic exposures in pregnancy. Attending the annual meetings and reading the articles in the journal Teratology (now Birth Defects Research) have been an instructive and enjoyable way to learn about the causes of malformations.

Displasia de streeter (síndrome de bridas amnióticas) a propósito de un caso

Introducción: La Displasia de Streeter o Síndrome de Bandas Amnióticas (SBA) es un grupo de defectos al nacimiento, que ocurre cuando algunas partes del feto en desarrollo (generalmente brazos, piernas o dedos) se “enredan” en bandas amnióticas de tipo fibrinoso dentro del útero, las cuales restringen el flujo sanguíneo y linfático, afectando el desarrollo del bebé.&#x0D; Objetivo: Describir un caso clínico de bandas amnióticas como causa de malformacion en las extremidades.&#x0D; Material y métodos: Estudio descriptivo retrospectivo, presentación de caso clínico.&#x0D; Resultados: En este trabajo se presenta el caso de un recién nacido varón que al nacimiento presenta sindactilia en mano izquierda, pie derecho y en tercio distal de pierna, banda de constricción profunda que provoca, edema y linfangitis así como hipertrofia de tercio distal de pierna y pie izquierdos.&#x0D; Conclusiones: Es importante la revisión de este caso puesto que la intervención debe ser multidisciplinaria (cirugía plástica, cirugía vascular, ortopedia y traumatología, pediatría, psicología) y precoz con la finalidad de evitar complicación vascular, funcional y estética.&#x0D; Resultados: En este trabajo se presenta el caso de un recién nacido varón que al nacimiento presenta sindactilia en mano izquierda, pie derecho y en tercio distal de pierna, banda de constricción profunda que provoca, edema y linfangitis así como hipertrofia de tercio distal de pierna y pie izquierdos.&#x0D; Conclusiones: Es importante la revisión de este caso puesto que la intervención debe ser multidisciplinaria (cirugía plástica, cirugía vascular, ortopedia y traumatología, pediatría, psicología) y precoz con la finalidad de evitar complicación vascular, funcional y estética

The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas

Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections. The present research aimed to investigate the prevalence of cytomegalovirus and toxoplasma infections among neonates afflicted with microcephaly and hydrocephaly in a pediatric hospital in 2018. Materials and Methods: The present descriptive, cross-sectional research was conducted on all neonates diagnosed with microcephaly and hydrocephaly hospitalized in the pediatric hospital of Bandar Abbas in 2018. Blood samples were taken from the neonates to be analyzed for cytomegalovirus and toxoplasma serology, followed by statistically analyzing the information describing 11 subjects including 5 hydrocephaly and 6 microcephaly cases. Results: The mean gestational age was estimated at 35.8±4.08 and 37.16±1.32 weeks in hydrocephaly and microcephaly groups, respectively (P=0.507). In both groups, the female population was larger than the males. In addition, blood relations among parents were stronger in the microcephaly group (40%) compared to the microcephaly group (83.3%). Moreover, the anomaly was found to be more in the microcephaly group. This rate was 60% and 16.7% in the hydrocephaly and microcephaly groups, respectively. The serology of cytomegalovirus and toxoplasma in neither groups showed to be positive. One hundred percent of patients with an anomaly were term although 50% of those without any anomaly belonged to the term group. It appears that the presence of an anomaly was positively correlated with term birth. One hundred percent of patients with an anomaly were found to have parents who were close relatives. However, 50% of patients with no anomaly showed to have parents closely related in the family. Finally, heart problems were found to prevail in the group diagnosed with an anomaly. Conclusion: In the present research, the prevalence of cytomegalovirus and toxoplasma infections was reported to be zero in neonates who were afflicted with microcephaly and hydrocephaly.

A review of amphibian fauna of Sri Lanka: distribution, recent taxonomic changes and conservation

The amphibian fauna of Sri Lanka comprises 120 species, including 107 (~90.0%) endemic species. They belong to five families: Bufonidae, Dicroglossidae, Ichthyophiidae, Microhylidae, and Rhacophoridae. Based on distribution, we recognized five zoogeographic zones for them, Central Hills, Dry Zone, Knuckles Range, Lowland Wet Zone, and Rakwana Hills. Fifty three species were reported from the Central Hills (48 endemics [90.6%] and 42 [79.2%] threatened species). 47 species were recorded from the Lowland Wet Zone, including 36 (76.6%) endemics and 28 (59.6%) threatened species. The Knuckles Range had 25 species, of which, 19 (76.0%) were endemics and 15 (60.0%) are threatened species. 19 species were reported from Dry Zone including seven endemics (36.8%) and four threatened species (21.1%). Out of 29 species, which inhabited in the Rakwana Hills, 26 were endemics (~89.7%) including 24 (82.8%) threatened species. Species diversity along the elevational gradient was also observed with the highest species richness in the mid-elevational localities. Family Ichthyophiidae can be considered as the least studied family. Recent rediscoveries and studies have helped to reduce the number of extinct species from 21 to 18. It is speculated that some of the other extinct species have to be rediscovered or probably were misidentified as other species. About 90% of Sri Lankan amphibians occur in the regions with the highest human populations where there are established agricultural lands. Loss of habitats, competition due to anthropogenic species and invasive species, pollution (cause for malformations, parasites, and other diseases), and climate change appear to be major threats.

Malformation in three anuran species from a preserved remnant of Atlantic Forest in southeastern Brazil

Records of malformation in amphibians have significantly increased on a global scale. The main causes of malformations are linked to environmental contaminants, and records in preserved environments are uncommon. We reported malformations in three anuran species belonging to three families:Crossodactylustimbuhy(Hylodidae),Proceratophrysschirchi(Odontophrynidae) andThoropamiliaris(Cycloramphidae). All records were found within the Reserva Biológica Augusto Ruschi, a well-preserved protected remnant of Atlantic rainforest located in the mountains of the state of Espírito Santo, southeastern Brazil. The malformations detected were hemimelia (long bone shortened) with ectrodactyly (digit absent) and brachydactyly (digit shortened) inC.timbuhy, microphtalmia (small eye) inP.schirchiand ectrodactyly inT.miliaris. Further studies are recommended to enable a better understanding about the incidence and causes of malformations within preserved areas.

The optimization of prenatal diagnostic of inherent malformations in population of the Primorsky Krai

The article presents the results of study of condition of medical genetic care in the Primorsky krai according the materials of the Regional clinical center of specialized forms of medical care. The cyto-genetic investigations of population of the Primorsky Krai revealed a regional specificity: chromosomal pathology was detected only in 1-2% of children with isolated defects and in less than 5% of children with multiple intrauterine malformations. The alteration of causes of malformations testifies that now fetus is more affected by terratogenic factors than before. Nowadays, in the Primorsky Krai the developed and functioning system of two-level prenatal diagnostic permits to detect with high degree of reliability malformations and certain inherited diseases. At the same time, system functions not enough effectively. Nowadays, no less than 50% of malformations and inherited diseases were diagnosed untimely for further elimination ofstarting of surgical correction. To increase effectiveness of functioning responsibility of obstetricians-gynecologists of medical institutions and qualification ofphysicians of ultrasound diagnostic implementing ultrasonography offetus offirst level are to be enhanced. Besides, stable state financing of implementation of serum screening ofpregnant women for pathology offetus. It is proposed to complete actual structure with modern system of informatization ofprocess of management of development of territorial register of anomalies. In order to increase quality under maintenance of accessibility of this type of specialized care ofpopulation of the Krai it is proposed to decrease number of inter-district rooms ofprenatal diagnostic keeping on only one in the main economic zones of the Primorsky Krai. The everywhere implementation of will permit to decrease no less than twice birth of children with congenital pathology of development and inherited diseases.

Reduction Glossoplasty in a Calf with Bifid Tongue

Background: Fetal malformations are characterized by anatomical changes that compromise an organ or system. Tongue formation in bovines occurs with the fusion of three structures at the end of the fourth week of gestation, and any failure during this stage of embryonic development may lead to tongue malformation. Bifid tongue, also called glossoschisis, is a rare congenital abnormality in any species and is characterized by incomplete fusion of the lateral tongue buds, resulting in a deep groove in the midline of the tongue. The objective of this study was to describe a case of bifid tongue and the procedure of reduction glossoplasty in a calf of the Girolando breed in Tocantins State.Case: A male mixed-breed (Holstein-Friesian × Gir) calf, born from natural mating in the municipality of Araguaína, Tocantins, was clinically assessed in the Sector of Ruminant Clinical Medicine of the Federal University of Tocantins at 2 months of age. The owner reported that the animal exhibited difficulty in suckling after birth and that on inspection of the oral cavity, he observed changes in the tongue and mandible. Clinical examination of the oral cavity revealed the presence of a bifid tongue and abnormal fusion of the mandible in the region of the lower incisive teeth. It was decided to perform a surgical procedure with the aim of improving the animal’s quality of life because the owner wanted to keep it in the farm. An incision was made, followed by removal of the medial rims of the two tines of the tongue, and synthesis was performed, joining the ventral rims of the tongue, beginning at the root and ending at the apex.Discussion: The observed lesions are compatible with bifid tongue and mandibular fissure, both previously reported in other species. The literature has no reports of bifid tongue in bovines. The etiology of fetal malformations is still unclear, and the primary causes known in Brazil include ingestion of toxic plants by the mother, such as Mimosa tenuiflora and Poincianella pyramidalis; infections, with the main viral agents being bovine viral diarrhea virus and blue tongue virus; and teratogenic agents, namely certain medications administered during embryogenesis, e.g., ivermectin. Other potentially teratogenic agents that have not been identified as causes of malformation include radiation, cortisone, benzimidazoles, sulfonamides, folate antagonists, and organophosphates. The intense genetic improvement that the Holstein-Friesian breed has been subjected to, including inbreeding that results in consanguinity, may be a determining factor for the breed carrying mutant alleles. Because the calf in this report was crossbred from parents with Holstein-Friesian ancestry, it could carry mutant alleles that led to the malformation. Another etiology proposed in a study on embryological bases by Goodacre and Wallace (1990) is the persistence of buccopharyngeal membrane and amniotic constriction bands in the region of the branchial arches; this cause cannot be ruled out in the present case. Calves born with fetal malformations generate losses for cattle breeders because the calf dies either before or after birth, which may culminate with the death of the mother or, in cases in which the anomaly is compatible with life, damage to the animal’s development and well-being, as in the present report. Bifid tongue is a rare malformation in bovines, and reduction glossoplasty is essential for the description and improvement of techniques that aid bovine medicine; however, animals subjected to this procedure should not be used for reproduction.

Risk of Congenital Malformations: A Systematic Review

Congenital malformations (CM) are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. CM abnormality of structure and, consequently, function of the human body arising during development. This large group of disorders affects almost 5 percent of infants and includes several major groups of conditions.

A case of bilateral hypertrophy in the chelae of a male specimen of Minuca rapax (Smith, 1870) (Decapoda, Brachyura, Ocypodidae)

Abstract The present study describes the first record of bilaterally hypertrophied chelipeds in a male fiddler crab, Minuca rapax (Smith, 1870), collected in the mangrove area near the city of Jaguaribe, located in the northern portion of Itamaraca Island in Pernambuco, Brazil. This particular specimen was captured by hand as it emerged from its burrow. Of the total 126 individuals (48 females and 78 males) of the genus Minuca (Bott, 1954) captured, only one presented chelipeds similar in size and shape. Some of the causes of malformation in decapods have been attributed to a double generation of growth areas or non-synchronous regenerative coordination in wound healing. Due to the lack of studies on the definitive cause of these abnormalities and deformations, further investigations are required to determine the roles of individuals with abnormalities within populations as well as the principal causes of these abnormalities.

Malformation of the tail in Labrador Retriever dogs caused by mutation C189G in the T gene

ABSTRACT: The present study reported the mutation C189G in the T gene (Brachyury gene) as the cause of malformation in the tail of the Labrador dog. One litter of Labradors, from a mating between a female with short tail and a male with normal tail admitted at the Veterinary Teaching Hospital of Universidade Federal de Mato Grosso do Sul, Campo Grande, Brazil, was evaluated in this study. Blood samples were collected from the female and her puppies. After DNA extraction, sequencing and PCR-RFLP were carried out. The C189G mutation was identified through both techniques only in dogs with short tail.

Heavy metal pollution and its relation to the malformation of green mussels cultured in Muara Kamal waters, Jakarta Bay, Indonesia

Jakarta Bay has become contaminated by both organic and inorganic pollutants, including heavy metals. This study aimed to examine the effect of heavy metal pollution on green mussels cultured in Muara Kamal Waters, Jakarta Bay over seven months. In this research, the water quality was assessed, through measuring the concentrations of the heavy metals, Hg, Pb, Cd, Cr, and Sn in the water, and in the tissue of green mussels that had been cultured there for seven months. The percentage of congenital abnormalities (malformations) in the green mussels was analyzed descriptively and the relationship between the water quality, heavy metals, and green mussel malformation was studied through principal component analysis (PCA). The result showed that the heavy metals concentrations in the water and sediment exceeded the quality standard at Muara Kamal but that in other respects the water quality was quite good. The green mussels cultured there for seven months had accumulated high concentrations of heavy metals, and ±60% of them had malformations of their shells. Based on the heavy metal concentrations in their bodies, the main cause of malformations in green mussels was suspected to be Pb, Hg, and Sn. However, the result of PCA showed it was the interaction between nitrogen compounds, phosphate, turbidity, salinity, pH, as well as the heavy metals in the water that determined the green mussel abnormality.

Potential of biologically active plant oils for controlling of Culex pipiens (Diptera: Culicidae)

The insecticidal effect of six commercially available plant oils was tested against 4 th larval instars of Culex pipiens. Larvae were originally collected from Meit El-Attar, Qalyubia Governorate, Egypt, and then reared in the laboratory until F 1 generation. The LC50 values were 32.42, 47.17, 71.37, 83.36, 86.06, and 152.94 ppm for fenugreek ( Trigonella foenumgrecum), earth almond (Cyperus esculentus), mustard (Brassica compestris), olibanum (Boswellia serrata), rocket (Eruca sativa), and parsley (Carum ptroselinum), respectively. The tested oils altered some biological aspects of C. pipiens, for instance, developmental periods, pupation rates, and adult emergences . The lowest concentrations of olibanum and fenugreek oils caused remarkable prolongation of larval and pupal durations. Data also showed that the increase of concentrations was directly proportional to reduction in pupation rates and adult emergences. Remarkable decrease in pupation rate was achieved by mustard oil at 1000 ppm. Adult emergence was suppressed by earth almond and fenugreek oils at 25 ppm. In addition, the tested plant oils exhibited various morphological abnormalities on larvae, pupae, and adult stages. Consequently, fenugreek was the most potent oil and the major cause of malformation of both larval and pupal stages. Potency of the applied plant oils provided an excellent potential for controlling C. pipiens.

High salt-induced excess reactive oxygen species production resulted in heart tube malformation during gastrulation.

An association has been proved between high salt consumption and cardiovascular mortality. In vertebrates, the heart is the first functional organ to be formed. However, it is not clear whether high-salt exposure has an adverse impact on cardiogenesis. Here we report high-salt exposure inhibited basement membrane breakdown by affecting RhoA, thus disturbing the expression of Slug/E-cadherin/N-cadherin/Laminin and interfering with mesoderm formation during the epithelial-mesenchymal transition(EMT). Furthermore, the DiI+ cell migration trajectory in vivo and scratch wound assays in vitro indicated that high-salt exposure restricted cell migration of cardiac progenitors, which was caused by the weaker cytoskeleton structure and unaltered corresponding adhesion junctions at HH7. Besides, down-regulation of GATA4/5/6, Nkx2.5, TBX5, and Mef2c and up-regulation of Wnt3a/β-catenin caused aberrant cardiomyocyte differentiation at HH7 and HH10. High-salt exposure also inhibited cell proliferation and promoted apoptosis. Most importantly, our study revealed that excessive reactive oxygen species(ROS)generated by high salt disturbed the expression of cardiac-related genes, detrimentally affecting the above process including EMT, cell migration, differentiation, cell proliferation and apoptosis, which is the major cause of malformation of heart tubes.

Causes of Congenital Malformations.

Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ). The presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston. The abnormalities were identified from the review of the examination findings of the pediatricians and consultants and diagnostic testing for the live-born infants and the autopsies of the fetuses in elective terminations and stillbirths. A total of 7020 (2.4%) infants and fetuses with one or more malformations were identified with these apparent etiologies in 26.6%: Mendelian disorders, including infants with postaxial polydactyly, type B; chromosome abnormalities; vascular disruption; complications of monozygous twinning; and environmental factors. The malformations of unknown etiology were a much larger group. While several causes of malformations have been identified, many remain unexplained. Combining the ascertainment in a future surveillance programs with genome sequencing and chromosome microarray analysis will increase significantly the number of malformations attributed to genetic mechanisms. Birth Defects Research 110:87-91, 2018.© 2018 Wiley Periodicals, Inc.