scholarly journals Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

2021 ◽  
Vol 6 (3) ◽  
pp. 71-77
Author(s):  
T. V. Khmara ◽  
◽  
M. O. Ryznychuk ◽  
N. B. Kuzniak ◽  
S. P. Melnychuk ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosomal Abnormalities ◽  
Multiple Pregnancy ◽  
The Body ◽  
Craniofacial Anomalies ◽  
Hereditary Syndromes

Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

Prevention and avoidance of congenital malformations

1988 ◽  
Vol 319 (1194) ◽  
pp. 309-314 ◽  
Keyword(s):  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosome Abnormality ◽  
Vitamin Supplementation ◽  
Congenital Dislocation ◽  
Dislocation Of The Hip

Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as ‘multifactorial’ as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in ‘high risk’ mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7 %) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect. If of all words of tongue and pen The saddest are, ‘It might have been’ More sad are these we daily see ‘It is but hadn’t ought to be’ Frances Brett, Mrs Judge Jenkins

scholarly journals General principles governing record taking in patients with cleft lip and palate

2021 ◽  
Vol 11 (2) ◽  
pp. 86-89
Author(s):  
Ashish Garg ◽  
Sandhya Gupta
Keyword(s):  
Congenital Anomaly ◽  
Environmental Factors ◽  
Collaborative Research ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Skeletal Maturity ◽  
Craniofacial Anomalies ◽  
Treatment Procedure ◽  
Complex Procedure ◽  
International Collaborative Research

(WHO meetings on International Collaborative Research on Craniofacial Anomalies).One of the most common congenital anomaly we come across is the Cleft Lip and palate where affected children suffer from range of functional as well as aesthetic problems. Cleft lip and palate is a multifunctional disease associated with environmental factors. Management of cleft is a complex procedure and demands co-operation among experts from different fields. Clinical treatment procedure extends from beginning of birth, to achieving skeletal maturity effectively.

scholarly journals Multiple Cephalic Malformations in a Calf

Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1532
Author(s):  
Di Muro G. ◽  
Cagnotti G. ◽  
Bellino C. ◽  
Capucchio M.T. ◽  
Colombino E. ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Presumptive Diagnosis ◽  
Intracranial Lesion ◽  
Median Cleft ◽  
The Central Nervous System ◽  
Similar Combination ◽  
Neurologic Findings

Congenital malformations of the central nervous system (CNS) can affect the CNS alone or the CNS and craniofacial structures. Here, we report an unusual and complex congenital cephalic malformation observed in a 3-day-old male crossbreed calf. Clinical examination disclosed a dome-shaped cranial vault, a flat face with a short snout, a median cleft lip, and increased intraorbital distance. The frontal region of the head was remarkable for a fluctuant, sac-like protrusion covered with haired skin. Neurologic findings suggested a multifocal intracranial lesion affecting the prosencephalon and the central vestibular system. While pathological and histopathological findings posited for a presumptive diagnosis of either hydranencephaly or holoprosencephaly associated with multiple congenital facial abnormalities, not all the findings could be definitely attributed to either of the two encephalic malformations alone. To our knowledge, a similar combination of severe congenital abnormalities affecting both the CNS and the craniofacial structures has not been reported in calves to date.

scholarly journals Congenital malformations in newborns of alcoholic mothers

2010 ◽  
Vol 8 (4) ◽  
pp. 461-466 ◽  
Author(s):  
Maria dos Anjos Mesquita ◽  
Conceição Aparecida de Mattos Segre
Keyword(s):  
Fetal Alcohol Syndrome ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Defects ◽  
Fetal Alcohol ◽  
Congenital Clubfoot ◽  
Live Births ◽  
The City ◽  
Neurodevelopment Disorders

ABSTRACT Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births), 6 with congenital defects related to alcohol (3.0/1,000 live births), and 67 with developmental disorders related to alcohol (34.1/1,000 live births). The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

scholarly journals IDENTIFICATION OF MOST COMMON CONGENITAL ABNORMALITY TYPES AMONG NEWBORN INFANTS: A HOSPITAL-BASED STUDY

2021 ◽  
Vol 56 (4) ◽  
pp. 581-586
Author(s):  
Manaf Authman Hreeth ◽  
Omer Q. B. Allela ◽  
Imad Jebur Rashid
Keyword(s):  
Congenital Abnormality ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Newborn Infants ◽  
Full Term ◽  
Male Predominance ◽  
Neurological Abnormalities ◽  
Patau Syndrome

The term “congenital abnormalities” signifies a disruption in the normal process of organogenesis occurring before birth: the earlier the insult, the grosser the abnormality. This research is the largest study aimed at identifying the most common congenital abnormality types among newborn infants in the neonatal care unit (NCU) of the Al-Kadhymia teaching hospital, Baghdad, Iraq. This prospective study was carried out during the period from February 1 to August 1, 2011. A total of 2700 neonates were admitted to the NCU, and 100 newborn infants in the nursery care unit were proven to have congenital abnormalities by physical examination alone. The questionnaire for neonatal evaluation included: gestational age, sex, body weight, and type of congenital anomaly. The results showed that of the total (100) affected neonates, 63 (63%) were full term, 55% had neurological abnormalities, followed by 12% with cleft lip and palate and then 11% with chromosomal abnormalities (most of them had Down syndrome, only 3 cases had Edward syndrome, and 1 case had Patau syndrome). It can be concluded that most of the affected newborns were full term, with a slight male predominance. The incidence of neurological abnormalities was higher than other types of birth defects.

scholarly journals Incidence of Natal Teeth in Sarlahi District of Nepal

2019 ◽  
Vol 17 (01) ◽  
pp. 100-102
Author(s):  
Nitin Kumar Agrawal ◽  
Subarna K Khatry ◽  
Steven C LeClerq ◽  
Joanne Katz ◽  
Luke C Mullany
Keyword(s):  
Health Care ◽  
Birth Weight ◽  
Environmental Factors ◽  
Low Birth Weight ◽  
Health Care Providers ◽  
Cleft Lip ◽  
Care Providers ◽  
Live Births ◽  
Hereditary Syndromes ◽  
Natal Teeth

Background: The presence of natal or neonatal teeth, which have been associated with environmental factors and hereditary syndromes, can have an impact on the psychosocial growth of children. Methods: We aimed to estimate the incidence of natal tooth in Sarlahi district of Nepal.Live births from Sarlahi district in Nepal were assessed for natal teeth and other related factors.Results: Among 28,695 live births between 2010 and 2017, we observed 7 cases of natal teeth accounting for an incidence rate of 2.44 per 10,000 (95% CI: 0.98 – 5.03). Out of 7 neonates with natal tooth, 4 were female and 3 were low birth weight (<2500 grams). None were preterm or had any associated cleft lip or palate.Conclusions: Incidence of natal tooth in Nepal is rare.It is important for health care providers to know about the possibility of occurrence of natal tooth and its management.Keywords: Incidence of natal tooth; natal tooth; neonatal tooth; Nepal.

Questions on the role of biofilms for the adaptation of microorganisms to unfavorable environmental factors by the example of P. aeruginosa

2020 ◽  
Vol 99 (4) ◽  
pp. 379-383
Author(s):  
Vasily N. Afonyushkin ◽  
N. A. Donchenko ◽  
Ju. N. Kozlova ◽  
N. A. Davidova ◽  
V. Yu. Koptev ◽  
...  
Keyword(s):  
Antibiotic Resistance ◽  
Environmental Factors ◽  
Barrier Function ◽  
Infectious Agent ◽  
Antagonistic Activity ◽  
The Body ◽  
Main Function ◽  
Pathogenic Potential ◽  
The Face

Pseudomonas aeruginosa is a widely represented species of bacteria possessing of a pathogenic potential. This infectious agent is causing wound infections, fibrotic cystitis, fibrosing pneumonia, bacterial sepsis, etc. The microorganism is highly resistant to antiseptics, disinfectants, immune system responses of the body. The responses of a quorum sense of this kind of bacteria ensure the inclusion of many pathogenicity factors. The analysis of the scientific literature made it possible to formulate four questions concerning the role of biofilms for the adaptation of P. aeruginosa to adverse environmental factors: Is another person appears to be predominantly of a source an etiological agent or the source of P. aeruginosa infection in the environment? Does the formation of biofilms influence on the antibiotic resistance? How the antagonistic activity of microorganisms is realized in biofilm form? What is the main function of biofilms in the functioning of bacteria? A hypothesis has been put forward the effect of biofilms on the increase of antibiotic resistance of bacteria and, in particular, P. aeruginosa to be secondary in charcter. It is more likely a biofilmboth to fulfill the function of storing nutrients and provide topical competition in the face of food scarcity. In connection with the incompatibility of the molecular radii of most antibiotics and pores in biofilm, biofilm is doubtful to be capable of performing a barrier function for protecting against antibiotics. However, with respect to antibodies and immunocompetent cells, the barrier function is beyond doubt. The biofilm is more likely to fulfill the function of storing nutrients and providing topical competition in conditions of scarcity of food resources.

Polymorphism of p-450 cytochrome detoxication genes in adolescents depending on the degree of contamination of the organism by heavy metals

2020 ◽  
Vol 99 (5) ◽  
pp. 478-482
Author(s):  
N. P. Setko ◽  
A. G. Setko ◽  
Ekaterina V. Bulycheva ◽  
A. V. Tyurin ◽  
E. Yu. Kalinina
Keyword(s):  
Heavy Metals ◽  
Environmental Factors ◽  
Heavy Metal Contamination ◽  
Atomic Absorption Spectrophotometry ◽  
The Body ◽  
Lead And Cadmium ◽  
Cyp2b6 Gene ◽  
Cytochrome P 450 ◽  
Gene Cyp1a1 ◽  
Group 1

Introduction. Changes in the body of children and adolescents aimed at adapting to environmental factors are determined by genetic polymorphism in xenobiotic biotransformation genes, determining the degree of susceptibility of the child’s body to pollutants, which is the basis of modern personalized preventive medicine when managing risks to the health of the child population under the influence of environmental factors. Material and methods. Trace elements, including heavy metals, lead and cadmium, were determined in the hair of 256 practically healthy teenagers by atomic absorption spectrophotometry. Depending on the level of content of the latter, two groups of adolescents were formed to determine six genes of the cytochrome P-450 family. Group 1 consisted of adolescents whose cadmium lead content exceeded the average Russian indices. The second group included adolescents whose heavy metals were above the level of average Russian standards. Results. Studies have shown that in adolescents of the 1st group, compared with the data of adolescents of the 2nd group, an increase in the number of carriers of two mutant alleles at the locus rs 1048943 (gene CYP1A1) is 3.08 times, rs 464621 (gene CYP1A1) is 1. 8 times; locus rs 2069522 (CYP1A2 gene) 3.63 times; locus rs 1799853 (CYP2C9 * 2 gene) 4.5 times; locus rs 1057910 (gene CYP2C9 * 3) 3.8 times and locus rs 2279343 (gene CYP2B6) 4.25 times. Moreover, carriers of two normal alleles in adolescents of the first group at the locus rs 1048943 (gene CYP1A1) were 5.14 times; locus rs 2279343 (CYP2B6 gene) was 6.5 fold less than among adolescents of the 2nd group; and at the locus rs 464621 (gene CYP1A1), rs 2069522 (gene CYP1A2), rs 1799853 (gene CYP2C9 * 2), rs 1057910 (gene CYP2C9 * 3) there were no carriers of normal homozygotes. Conclusion. Group 1 adolescents with heavy metal contamination of the body are carriers significantly in a greater number of pathological mutations in the genes of the cytochrome P-450 detoxification system in comparison with data from group 2 adolescents.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

scholarly journals Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

2021 ◽  
Author(s):  
Theodosia Bartzela ◽  
Björn Theuerkauf ◽  
Elisabeth Reichardt ◽  
Malte Spielmann ◽  
Charlotte Opitz
Keyword(s):  
Early Identification ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Phenotypic Variability ◽  
Family Members ◽  
Pierre Robin Sequence ◽  
Associated Malformations ◽  
Pierre Robin

Abstract Objectives To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. Materials and methods An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. Results Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. Conclusion Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. Clinical relevance The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.

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