Metabolic disturbances are among the most common disorders diagnosed in pediatric patients after anti-cancer therapy (ACT). The aim of our study was to evaluate the prevalence of metabolic disturbances among patients after ACT. The study group comprised 44 patients (31 boys) treated for solid tumors and 31 patients in the control group. Body weight, height, body mass index (BMI) values, lipid parameters are expressed in Standard Deviation Score (SDS), based on centile charts. Indicators of risk to atherosclerosis were calculated. Obesity/overweight was observed in one third of the patients. Hypercholesterolemia occurred in half of them, elevated tryglicerides (TG) SDS in 11, and elevated low-density lipoprotein cholesterol (LDL-C) SDS in nine of the patients. Increased levels of both cholesterol SDS and LDL SDS were found in nine patients and four of them also showed elevated levels of TG SDS. There were significant differences in lipid parameters between the sexes. Risk indicators of lipid disorders defined by statistical distances (τ) were determined for the study group and the control group. The sum of the risk ratios of lipid disorders in the study group was 150 times higher than in the control group. Patients after ACT require special monitoring of lipids profiles and thyroid function as they are at higher risk for dyslipidemia and atherosclerosis than healthy people.
Wpływ polimorfizmów genu VDR na otyłość, zmiany metaboliczne, zaburzenia masy kostnej i procesy nowotworowe The impact of VDR gene polymorphisms on obesity, metabolic changes, bone mass disorders and neoplastic processes
People with Down syndrome (PWDS) are more at risk for developing obesity, oxidative stress disorders, metabolic disorders, and lipid and carbohydrate profile disorders than the general population. The presence of an additional copy of genes on chromosome 21 (i.e., the superoxide dismutase 1 gene (SOD1) and gene coding for the cystathionine β-synthase (CBS) enzyme) raises the risk for cardiovascular disease (CVD). As a result of disorders in metabolic processes and biochemical pathways, theoretically protective factors (low homocysteine level, high SOD1 level) do not fulfil their original functions. Overexpression of the CBS gene leads to the accumulation of homocysteine—a CVD risk factor. An excessive amount of protective SOD1, in the case of a lack of compensatory increase in the activity of catalase and peroxidase, leads to intensifying free radical processes. The occurrence of metabolic disorders and the amplified effect of oxidative stress carries higher risk of exposure of people with DS to CVD. At present, classic predispositions are known, but it is necessary to identify early risk factors in order to be able to employ CVD and obesity prophylaxis. Detailed determination of the metabolic and lipid profile may provide insight into the molecular mechanisms underlying CVD.
Introduction: Septo-optic dysplasia (SOD) is a rare congenital heterogeneous malformation with postulated genetic and environmental etiology. Septo-optic dysplasia is characterized by classic triad: optic nerve hypoplasia, midline brain malformation and hypothalamic-pituitary endocrine deficiencies. The most common hormonal deficiencies affect growth hormone and gonadotropin but it can also be lower levels of the other hormones. The rarest form of hormone deficiency is the deficiency of the antidiuretic hormone. Case report: The boy was born in 39 th week of pregnancy in general good condition. Weakened suction reflex and spitting resulted in substantial difficulties with breastfeeding. After transfontanelle ultrasonography central nervous system defect was suspected. In the 5 th month of life MRI confirmed septo-optic dysplasia on the basis of anterior genu of corpus callosum and septum pellucidum agenesis, both optic nerves and optic chiasm hypoplasia, pachygyria and polimicrogyria of the right frontoparietal cortex. Neurological examination revealed axial laxity, psychomotor development delay, difficulties in keeping eyes fixed as well as rotary and horizontal nystagmus. At the age of 3 years he underwent the endocrinological consultation due to polydipsia and polyuria. The tests revealed lower urine specific gravity tests results, therefore diabetes insipidus was diagnosed. The boy still receives desmopressin and there are no signs of central diabetes insipidus. Currently, the boy is under a multi-disciplinary medical care. Conclusions: The attention should be focussed on early diagnosis, mutli-specialized care and treatment SOD. Hypopituitarism ranges from isolated to multiple hormone deficits, with diabetes insipidus in a minority. Although rare, SOD is an important cause of congenital hypopituitarism and should be considered in all children with midline defects and optic nerve hyploplasia. StreszczenieWstęp: Dysplazja przegrodowo-oczna (septo-optic dysplasia -SOD) jest rzadkim wrodzonym zaburzeniem z prawdopodobnym podłożem genetycznym i środowiskowym. Charakteryzuje się klasyczną triadą objawów: niedorozwojem nerwu ocznego, zaburzeniami rozwojowymi mózgu oraz niedoborami endokrynologicznymi pochodzenia podwzgórzowo-przysadkowego. Najczęściej spotykany jest niedobór hormonu wzrostu i gonadotropin, ale mogą występować także inne niedobory. Najrzadziej występuje niedobór hormonu antydiuretycznego. Opis przypadku: Chłopiec urodzony w 39. tygodniu ciąży w stanie ogólnym dobrym. Wystąpiły trudności w karmieniu piersią z powodu osłabionego odruchu ssania i połykania. Na podstawie badania ultrasonograficznego przezciemieniowego głowy wysnuto podejrzenia wad rozwojowych ośrodkowego układu nerwowego. Wykonane w 5. miesiącu życia badanie rezonansem magnetycznym potwierdziło SOD u podstawy przedniego rogu ciała modzelowatego, niedorozwój międzykomorowej, obustronnie nerwów wzrokowych, a także skrzyżowania, pachygyria, niedorozwój kory czołowo-skroniowej. W badaniu neurologicznym wykazano zwichnięcie osiowe, opóźniony...
Down Syndrome (DS) is a chromosomal abnormality associated with a spectrum of cognitive and physical disabilities. Children with DS are exposed to both lower and excess body weight and follow distinct growth-curve patterns that deviate significantly from those of children without chromosomal defects. Anthropometric parameters are assessed in the pediatric population with the use of growth charts. The study is based on data from 411 children and adults with DS from Poland. Detailed information concerning children and online survey results were also analyzed. Centiles and standard deviation scores (SDS) of obtained anthropometric parameters were aligned with the data using the LMS method. The study aims to identify which type of growth chart (standard vs specialized) is a leading tool for earlier detection of developmental disorders in DS. The results obtained in the two types of growth charts differed. The advantage of the specialized growth charts over the standard ones cannot be unequivocally determined. Only the combination of both tools allows to detect the development disorders early in the broadest possible way.
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