When molecular analyses were completed in 10 children who met a research criterion for BWS, only 7 of the 10 children had genetic or epigenetic mutations.Given that the genetics of BWS are complex, a child with BWS should be under the medical care of a geneticist or an expert in the management of BWS. Genes involved are IGF-2, CDKN1C, H19, and KCNQ1OT1. Association with CDKN1C
CDKN1C is a protein coding gene that encodes a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell proliferation, effectively making CDKN1C a tumor suppressor gene. CDKN1C also works during fetal development, preventing the fetus from becoming too large. It is located on the short arm of the human chromosome 11 in the ICR2 region, along with many other imprinted genes. Since CDKN1C is preferentially maternally expressed, hypomethylation in the ICR2 region of the maternal allele can result in pathologies such as cancer or a defect known as Beckwith-Weidemann Syndrome. Beckwith-Weidemann Syndrome (BWS) may also be brought about by CDKN1C 11p15 epimutations. It may also be a result of deletions of small amounts of DNA that cause chromosomal abnormalities, rendering the gene inactive. This leaves only the paternally expressed IGF2 to promote cell proliferation. The reduction of growth restriction results in the overgrowth of many tissues, leading to the common symptoms of BWS. These symptoms may include macroglossia, organomegaly, periorbital fullness, and hernias.
Sputum is mucus that is coughed up from the lower airways (the trachea and bronchi). In medicine, sputum samples are usually used for a naked eye examination, microbiological investigation of respiratory infections and cytological investigations of respiratory systems. It is crucial that the specimen does not include any mucoid material from the nose or oral cavity. A naked eye exam of the sputum can be done at home by a patient in order to note the various colors (see below). Any hint of yellow or green color (pus) suggests an airway infection (but does not indicate the type of organism causing it). Such color hints are best detected when the sputum is viewed on a very white background such as white paper, a white pot or a white sink surface. The more intense the yellow color, the more likely it is a caused by an infection (bronchitis, bronchopneumonia or pneumonia). Having green, yellow, or thickened phlegm (sputum) does not always indicate the presence of an infection. Also, if an infection is present, the color of the phlegm (sputum) does not determine whether a virus, a bacterium or another pathogen has caused it. Simple allergies can also cause changes in the color of the mucus. Description
The best sputum samples contain very little saliva, as saliva contaminates the sample with oral bacteria. This is especially true for samples for laboratory testing in cytology or microbiology. Specimen adequacy is assessed by the laboratory technologists by examining a Gram stain or cytology stain of the sputum.