• Journal of The Korean Society of Inherited Metabolic disease
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• 제17권3호
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• pp.92-95
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• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Asian-Australasian Journal of Animal Sciences
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• 제13권11호
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• pp.1619-1637
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• 2000

A review was undertaken to obtain information on the range of beak-trimming methods available or under development. Beak-trimming of commercial layer replacement pullets is a common yet critical management tool that can affect the performance for the life of the flock. The most obvious advantage of beak-trimming is a reduction in cannibalism although the extent of the reduction in cannibalism depends on the strain, season, and type of housing, flock health and other factors. Beak-trimming also improves feed conversion by reducing food wastage. A further advantage of beak-trimming is a reduction in the chronic stress associated with dominance interactions in the flock. Beak-trimming of birds at 7-10 days is favoured by Industry but research over last 10 years has shown that beak-trimming at day-old causes the least stress on birds and efforts are needed to encourage Industry to adopt the practice of beak-trimming birds at day-old. Proper beak-trimming can result in greatly improved layer performance but improper beak-trimming can ruin an other wise good flock of hens. Re-trimming is practiced in most flocks, although there are some flocks that only need one trimming. Given the continuing welfare scrutiny of using a hot blade to cut the beak, attempts have been made to develop more welfare friendly methods of beak-trimming. Despite the developments in design of hot blade beak-trimmers the process has remained largely unchanged. That is, a red-hot blade cuts and cauterises the beak. The variables in the process are blade temperature, cauterisation time, operator ability, severity of trimming, age of trimming, strain of bird and beak length. This method of beak-trimming is still overwhelmingly favoured in Industry and there appears to be no other alternative procedures that are more effective. Sharp secateurs have been used trim the upper beak of both layers and turkeys. Bleeding from the upper mandible ceases shortly after the operation, and despite the regrowth of the beak a reduction of cannibalism has been reported. Very few differences have been noted between behaviour and production of the hot blade and cold blade cut chickens. This method has not been used on a large scale in Industry. There are anecdotal reports of cannibalism outbreaks in birds with regrown beaks. A robotic beak-trimming machine was developed in France, which permitted simultaneous, automated beak-trimming and vaccination of day-old chicks of up to 4,500 chickens per hour. Use of the machine was not successful because if the chicks were not loaded correctly they could drop off the line, receive excessive beak-trimming or very light trimming. Robotic beak-trimming was not effective if there was a variation in the weight or size of chickens. Capsaicin can cause degeneration of sensory nerves in mammals and decreases the rate of beak regrowth by its action on the sensory nerves. Capsaicin is a cheap, non-toxic substance that can be readily applied at the time of less severe beak-trimming. It suffers the disadvantage of causing an extreme burning sensation in operators who come in contact with the substance during its application to the bird. Methods of applying the substance to minimise the risk to operators of coming in contact with capsaicin need to be explored. A method was reported which cuts the beaks with a laser beam in day-old chickens. No details were provided on the type of laser used, or the severity of beak-trimming, but by 16 weeks the beaks of laser trimmed birds resembled the untrimmed beaks, but without the bill tip. Feather pecking and cannibalism during the laying period were highest among the laser trimmed hens. Currently laser machines are available that are transportable and research to investigate the effectiveness of beak-trimming using ablasive and coagulative lasers used in human medicine should be explored. Liquid nitrogen was used to declaw emu toes but was not effective. There was regrowth of the claws and the time and cost involved in the procedure limit the potential of using this process to beak-trim birds.

• Journal of dental hygiene science
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• 제12권5호
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• pp.493-502
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• 2012

The aim of this study was to investigate the oral health problems among type 2 diabetes patients and suggest basic data for the promotion of their body and oral health by emphasizing the correlation between hemoglobin A1c and subjective oral health status. For 174 patients with type 2 diabetes and who were older than 40 years old, the questionnaire and measurement of hemoglobin A1c were conducted from January 9, 2012 to March 9, 2012. The results of the study were as follows. 1. They tended to be most aware of the following; 'inflammation on the oral mucosa' and 'pain on the oral mucosa' among the symptoms of oral mucosa, 'gum bleeding when brushing teeth' among the symptoms of periodontal disease, and 'feels dry in general' among the symptoms of xerostomia. 2. The patients with longer duration of diabetes showed greater recognition with regards to the symptoms of oral mucosa disease, periodontal disease, and xerostomia (p<0.05). 3. The group with regular meal showed lower level of hemoglobin A1c (p<0.001). 4. The level of hemoglobin A1c was higher in the group that recognized 'burning sensation', 'gum bleeding', 'gum recession' and 'bad breath' (p<0.05) as well as in the group that responded 'get up at night to drink' among the symptoms of xerostomia (p<0.05). Especially the symptoms of periodontal disease were revealed to be a factor that showed the 3rd strongest correlation with hemoglobin A1c.