A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?

1999 ◽  
Vol 88 (5) ◽  
pp. 579-583 ◽  
Author(s):  
V. Baltaci ◽  
R. Örs ◽  
M. Kaya ◽  
S. Balci
Keyword(s):  
Pericentric Inversion ◽  
Aetiological Factor

Nutrition in inflammatory bowel disease

2009 ◽  
Vol 150 (18) ◽  
pp. 839-845 ◽  
Author(s):  
János Banai
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Fast Food ◽  
Optimal Growth ◽  
Developed Countries ◽  
Aetiological Factor ◽  
Artificial Nutrition ◽  
Food Preservatives ◽  
Inflammatory Bowel

Aetiology of inflammatory bowel disease (IBD) is complex and probably multifactorial. Nutrition has been proposed to be an important aetiological factor for development of IBD. Several components of the diet (such as sugar, fat, fibre, fruit and vegetable, protein, fast food, preservatives etc.) were examined as possible causative agents for IBD. According to some researchers infant feeding (breast feeding) may also contribute to the development of IBD. Though the importance of environmental factors is evidenced by the increasing incidence in developed countries and in migrant population in recent decades, the aetiology of IBD remained unclear. There are many theories, but as yet no dietary approaches have been proved to reduce the risk of developing IBD. The role of nutrition in the management of IBD is better understood. The prevention and correction of malnutrition, the provision of macro- and micronutrients and vitamins and the promotion of optimal growth and development of children are key points of nutritional therapy. In active disease, the effective support of energy and nutrients is a very important part of the therapy. Natural and artificial nutrition or the combination of two can be choosen for supporting therapy of IBD. The author summarises the aetiological and therapeutic role of nutrition in IBD.

scholarly journals Obesity, oxidative DNA damage and vitamin D as predictors of genomic instability in children and adolescents

2021 ◽  
Author(s):  
Moonisah Usman ◽  
Maria Woloshynowych ◽  
Jessica Carrilho Britto ◽  
Ivona Bilkevic ◽  
Bethany Glassar ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dna Damage ◽  
Genomic Instability ◽  
Oxidative Dna Damage ◽  
Nutritional Deficiencies ◽  
Aetiological Factor ◽  
Enzyme Linked Immunosorbent Assay ◽  
Childhood And Adolescence ◽  
Paediatric Obesity ◽  
Vitamin D Levels

Abstract Background/objectives Epidemiological evidence indicates obesity in childhood and adolescence to be an independent risk factor for cancer and premature mortality in adulthood. Pathological implications from excess adiposity may begin early in life. Obesity is concurrent with a state of chronic inflammation, a well-known aetiological factor for DNA damage. In addition, obesity has been associated with micro-nutritional deficiencies. Vitamin D has attracted attention for its anti-inflammatory properties and role in genomic integrity and stability. The aim of this study was to determine a novel approach for predicting genomic instability via the combined assessment of adiposity, DNA damage, systemic inflammation, and vitamin D status. Subjects/methods We carried out a cross-sectional study with 132 participants, aged 10–18, recruited from schools and paediatric obesity clinics in London. Anthropometric assessments included BMI Z-score, waist and hip circumference, and body fat percentage via bioelectrical impedance. Inflammation and vitamin D levels in saliva were assessed by enzyme-linked immunosorbent assay. Oxidative DNA damage was determined via quantification of 8-hydroxy-2′-deoxyguanosine in urine. Exfoliated cells from the oral cavity were scored for genomic instability via the buccal cytome assay. Results As expected, comparisons between participants with obesity and normal range BMI showed significant differences in anthropometric measures (p < 0.001). Significant differences were also observed in some measures of genomic instability (p < 0.001). When examining relationships between variables for all participants, markers of adiposity positively correlated with acquired oxidative DNA damage (p < 0.01) and genomic instability (p < 0.001), and negatively correlated with vitamin D (p < 0.01). Multiple regression analyses identified obesity (p < 0.001), vitamin D (p < 0.001), and oxidative DNA damage (p < 0.05) as the three significant predictors of genomic instability. Conclusions Obesity, oxidative DNA damage, and vitamin D deficiency are significant predictors of genomic instability. Non-invasive biomonitoring and predictive modelling of genomic instability in young patients with obesity may contribute to the prioritisation and severity of clinical intervention measures.

scholarly journals Fertility problems in males carrying an inversion of chromosome 10

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 316-321
Author(s):  
Xinyue Zhang ◽  
Qingyang Shi ◽  
Yanhong Liu ◽  
Yuting Jiang ◽  
Xiao Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Pericentric Inversion ◽  
Paracentric Inversion ◽  
Chromosome 10 ◽  
Partial Duplication ◽  
Recurrent Miscarriages ◽  
First Case ◽  
Fertility Problems ◽  
Male Carriers ◽  
Male Carrier

Abstract Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

Prenatal Diagnosis in Pericentric Inversion 6

2010 ◽  
Vol 10 (1-3) ◽  
pp. 175-178 ◽  
Author(s):  
J. Gazala ◽  
I. V. Amithkumar ◽  
J. Sabina ◽  
K.K. Praveena ◽  
J. Sujatha
Keyword(s):  
Prenatal Diagnosis ◽  
Pericentric Inversion

PERICENTRIC INVERSION OF CHROMOSOME 21 A POSSIBLE FURTHER CYTOGENETIC MECHANISM IN MONGOLISM

The Lancet ◽  
1962 ◽  
Vol 279 (7219) ◽  
pp. 21-23 ◽  
Author(s):  
J.E. Gray ◽  
D.E. Mutton ◽  
D.W. Ashby
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 21

scholarly journals A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).

1985 ◽  
Vol 61 (6) ◽  
pp. 242-244
Author(s):  
Suzue KANATA ◽  
Tetsuji KADOTANI ◽  
Yoko WATANABE ◽  
Nami MATSUO ◽  
Hidetoshi KODAMA ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Pericentric Inversion

SIMULTANEOUS OCCURRENCE OF RING "G" CHROMOSOME AND GROUP "B" PERICENTRIC INVERSION IN THE SAME INDIVIDUAL: CASE REPORT AND REVIEW OF THE LITERATURE

PEDIATRICS ◽  
1970 ◽  
Vol 46 (1) ◽  
pp. 74-83
Author(s):  
Howard Singer ◽  
Nona Suzann Scaife
Keyword(s):  
Pericentric Inversion ◽  
Failure To Thrive ◽  
Male Infant ◽  
Partial Trisomy ◽  
Chromosome Breakage ◽  
B Chromosome ◽  
Individual Case ◽  
Simultaneous Occurrence ◽  
Partial Monosomy ◽  
Structural Abnormalities

A male infant with failure to thrive was found to have a previously unreported combination of chromosomal structural abnormalities. Evidence is presented which characterizes the abnormal chromosomes as a late-replicating G ring and a pericentric inversion in an early replicating B group chromosome. The mechanisms of pericentric inversion and ring formation are discussed, and possible genetic consequences are noted. The patient's phenotype differed significantly from that of previously reported subjects with G rings, G deletions, and structural abnormalities of the B group. This phenotypic difference could be attributed to the apparent fact that the proband's G ring was a late replicator (G1) and earlier cases were not, on to the seeming variability in ring size which suggested partial trisomy/partial monosomy, or perhaps to the probability that the abnormal B chromosome was pericentrically inverted rather than deleted. The question of the etiologic significance of broken parental chromosomes must be raised, although more study is needed in the area of chromosome breakage, its relationship to abnormal progeny, and the possible role of environmental agents, e.g., drugs and irradiation.

Developments and controversies in maxillofacial trauma: Repair of facial injuries

2010 ◽  
Vol 1 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Michael Perry
Keyword(s):  
Functional Disability ◽  
Motor Vehicle ◽  
Sports Injuries ◽  
High Energy ◽  
Aetiological Factor ◽  
Rigid Fixation ◽  
Form And Function ◽  
Improved Outcomes ◽  
The Uk ◽  
And Function

Craniofacial trauma remains a common health problem throughout many areas of the UK. Although the ‘combination of alcohol and testosterone’ is often regarded as a major aetiological factor, a significant number of injuries are not related to either. Motor vehicle collisions and equine-related sports injuries in particular can result in devastating injuries to the skull and face and are frequently seen.Over the last few decades, management has moved away from closed methods to open exposure, anatomical reduction and internal ‘rigid’ fixation of facial fractures, with significant improvements in outcomes. Nevertheless, current management of ‘high energy’ or complex fractures can still result in residual functional disability and cosmetic deformity.Today’s challenge is to restore patients back to their pre-injury form and function, consistently, but this is not always possible. Greater understanding and a number of developments have significantly improved outcomes, although controversy still exists in some areas. Some of these will be discussed.

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