نتایج جستجو برای: congenital metabolic disorders
تعداد نتایج: 966749 فیلتر نتایج به سال:
Constipation is an extremely common disorder in childhood and is responsible for up to 25% of all pediatric gastroenterological consultations and 3% of all pediatric outpatient visits. In 90% of the cases the disorder is functional in origin and in only 10% is there an underlying organic disorder. Common organic causes of childhood constipation include: congenital defects of the gut; neurologic...
The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and t...
Gestational Diabetes Mellitus (GDM) has defined by the World Health Organization (WHO) in 1999 as any degree of carbohydrate intolerance resulting hyperglycemia variable severity, with onset or first recognition during pregnancy, excluding overt diabetes early pregnancy [1]. Its prevalence varies worldwide and also testing method diagnostic criteria used [2]. Extensive research demonstrated tha...
چکیده ندارد.
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Early developmental stages are particularly susceptible to disruption because this is the period for organogenesis. This refers to the 4th to 8th weeks of development. The aim of this study was to determine the pattern of congenital anomalies presenting in tertiary health facilities in Jos and any association between the anomalies. A retrospective study of 200 cases of congenital anomalies that...
Genetic information flows from DNA to macromolecular structures-the dominant force in the molecular organization of life. However, recent work suggests that metabolite availability to the hexosamine and Golgi N-glycosylation pathways exerts control over the assembly of macromolecular complexes on the cell surface and, in this capacity, acts upstream of signaling and gene expression. The structu...
The main causes of infantile cataract are genetic, metabolic disorders, prematurity and intrauterine infections. Other causes of childhood cataract in older children include trauma, drug-induced cataract, radiation therapy and laser therapy for ROP. Trauma is one of the commonest cause of unilateral cataract in the developing countries. Bilateral cataracts occur commonly due to the long-term us...
Patients who have left ventricular (LV) contractile dysfunction with dilatation of one or both ventricles receive the broad diagnosis of dilated cardiomyopathy (DCM), though further refinement is invariably required to guide appropriate therapy. Etiologic considerations span metabolic, toxic, infiltrative, structural, and congenital disorders, many of which may be apparent on initial history; h...
Acute liver failure (ALF) in neonates is a rare but often fatal event. Though in adults and older children, a main symptom of ALF is hepatic encephalopathy, this is very difficult to diagnose and prove in infants. Causes of ALF in neonates encompass metabolic, infectious and haematological disorders, congenital vascular/heart abnormalities, and drugs. Infants with ALF should only be treated in ...
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