نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
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Introduction A long-term intragastric feeding is the indication for percutaneous endoscopic gastrostomy (PEG) placement in a patient. The procedure performed children with central nervous system (CNS) disorders, congenital heart defects and neoplastic or metabolic diseases. PEG most commonly by gastroscopy procedure. Aim study aimed to retrospectively analyse methods applied complications follo...
Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are cardiac, lymphatic dysplasia, and hematological disorders. Inborn err...
Animal models provide a valuable tool for investigating the genetic basis and the pathophysiology of human diseases, and to evaluate therapeutic treatments. To study congenital retinal disorders, mouse mutants have become the most important model organism. Here we review some mouse models, which are related to hereditary disorders (mostly congenital) including retinitis pigmentosa, Leber's cong...
A congenital anomaly is a physical, metabolic, or anatomic deviation from the normal pattern of development that is present at birth. Minor congenital anomalies do not have medical or cosmetic importance, but detection of more than three such anomalies may reveal the prenatal origin of a disorder. The aim of the present study was to establish an association between the presence of minor congeni...
Available evidence suggests that congenital and genetic disorders are responsible for a major proportion of infant mortality, morbidity, and handicap in Arab countries. The population of the region is characterised by large family size, high maternal and paternal age, and a high level of inbreeding with consanguinity rates in the range of 25-60%. 2 4 w1 Certain disorders are common throughout t...
Since Watson & Crick's 1953 description of the structure of DNA, significant progress has been achieved in the control of congenital disorders, most of which has benefited industrialized countries. Little advantage accrued to developing nations, most of which in the same time frame achieved a significant epidemiological transition, resulting in congenital disorders attaining public health signi...
Background: Disease congenital hypothyroidism can cause of permanent mental retardation and disturbance physical growth.The present study done with aim of evaluate prevalence disorders of height, weight and head circumference first 5 years of life in children with congenital hypothyroidism in Yazd. Methods: present study was retrospective cohort which performed on all neonatal born in the years...
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