• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.58-62
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• 2022

Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

• Sim-seong Yeon-gu
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• v.25 no.2
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• pp.224-264
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• 2010

A brief story of the tale follows : Mokdoryung was a son of an arbor tree and a fairly. When the boy was 7-8 years old, mother-fairy returned to the sky. By using father-tree, Mokdoryung survived from the flood where he saved ants, mosquitos, and a boy with the same age. They arrived on top of the highest mountain, met an old woman with two daughters, worked as servants. With help of insects, Mokdoryung passed the trials, married to a wise daughter and 2 couples became the ancestor of the mankind. Interpretation of the tale starts with amplification of tree which symbolizes Self and Libido. As the son of the tree-spirit and a fairly from the sky, Mokdoryung is a kind of 'divine child' which represents a psychic possibility to understand archetypal nature of unconscious. Adversities of early childhood due to mother's absence regarded as necessary condition for 'divine child' to attain highest good. Flood can be compensation of absence of feminine as well as to bring a new life. The notion of father·tree becomes a kind of life-boat has to do with union of opposite(vertical phallic tree and horizontal feminine boat). Ants and mosquitoes represent upper and lower level of unconsciousness, they mediate divine power. Therefore respecting insects means respecting unconscious, and reward of insects means salvation come from unconscious. The boy saved from the flood presents emergence of psychic energy in its latent unconscious condition to create mental dynamism. The old woman is Great Mother or anima, the controller or guider of unconscious. Working as servants can be an active service for the divine marriage. Trials of separating millet from sand, and finding right direction relate to separatio, means one needs to be separated from unconscious before conunctio, union of opposite. Two sets of couple becoming ancestor of man-kind has to do with number 4 (quaternity) as well as regeneration. Although the tale includes both positive couple (Mokdoryung, wise daugther in east room). and negative couple(shadow side of Mokdoryung, step daughter in west room)as ancestors of mankind, "Good" seems to be more valued than "evil".

• Journal of Hospice and Palliative Care
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• v.8 no.2
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• pp.143-151
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• 2005

Purpose: Bereavement Memorial Service has been held every year by the hospice team at St. Vincent's Hospital for the purpose of supporting the bereaved family who feel grief and mourning. The purpose of this study is to find out the attitude of the bereaved attending at bereavement memorial service (BMS) and to find out the areas needing improvements to set up better memorial service. Methods: Hospice team sent invitation card to 180 families of patients who admitted and passed away at hospice ward Nov., 2003${\sim}$Oct., 2004. Among them 22 families attended the BMS meeting, which was held on 26th Nov., 2004. The researcher collected data from 22 families with 'Questionnaire' survey. Except identifying data and 2 dichotomy questions, we used open-ended questionnaire. 1 researcher conducted a telephone interview survey in 18 families who couldn't attend at BMS meeting. Results: The median age was 56 (range $16{\sim}19$) and there were 37 females and 3 males. They were patient's wife (22), mother (4), husband (5), daughter (4), mother-in-law (1), siblings (1), brothers wife (1). Duration after bereavement, $1{\sim}3$ months (17) was the highest frequency. 36 families agreed 'the dead experienced the death with dignity'. The reason of agreement to the death with dignity was 'the patient died in preparation' (16). 'the patient died in well-being condition spiritually' (9), 'the patient died in comfort physically (7). 4. persons thought the dead died with indignity. The bereaved defined 'the death with dignity' as follows: 'acceptance of death & death in spiritual well-being' (9), 'death in physical comfort condition' (7), 'the death in psycho-social well-being' (3), non-respondents (10). Most families (21) were still in difficulty to overcome bereavement grief. The answer regarding the method to overcome the difficulty was 'with spiritual sublimation' (13), 'with devotion of oneself in daily life' (10), 'with devotion to mourning as it is' (3). With regard to their attitude to invitation, 'having joy and thanks from hospice team' (21), 'grief' (4), 'suffering' (4). Toward the existence of hesitation about attendance at BMS meeting, the result as follows. Nonexistence of hesitation respondent (34), existence respondent (6), the reason for hesitation was various; 'the meeting reminds me of the suffering times', 'the meeting makes me to recall, and it will be likely to cry', and so on. The needs and feelings to memorial service meeting were various; 'it was meaningful time', 'it was good to recall about the dead', 'more meeting annually' and so on. In respect of the most difficulty after bereavement, in attendant family, 'depression' (10) was the highest frequency, whereas, in non-attendant family, the most difficult thing was 'financial problem/role difficulty (6). Conclusion: This study shows the rate of attendance was high in bereaved whose bereavement duration $1{\sim}3$ month. Most of bereaved were still suffering from bereavement grief within 1 year. Although most families didn't hesitate and felt positive mood to invitation, the rate of attendance was low. Comparing with two groups between attendant family and non-attendant, the latter felt more difficulty in 'financial problem/role difficulty, on the other hand, the former felt difficulty in 'depression'. Hereafter, the additional study about the factor relating to these attitude and needs of the bereaved relating to memorial service will be necessary.

• Child Health Nursing Research
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• v.2 no.1
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• pp.93-111
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• 1996

The purpose of the study is to identify the lived experience of mothers who have children with cerebral palsy in order to understand their agony. Moreover, the result of study was to find some nursing intervention for disabled children and their mothers. For this purpose, ten mothers who are willing to cooperate with this research were selected at random from those who have children with the cerebral palsy, currently using the municipal facilities for the handicapped with cerebral malfunction. Data collection was done from October 4, 1994 th December 31, 1994. The data were collected by asking the mothers mentioned above with some unstructured open-ended questions, recorded on the tapes with permission by the interviewee in order to prevent missing of the interviewed contents. These collected data have been substantiated and properly analyzed on the basis of phenomenological approach initiated by Colaizzi's method. The results and validity are proved to be credible by means of the individual checking of the interviewed mothers. The results of this study are as follows : 1. When the mother is first informed of the diagnosis of cerebral palsy on her child, she usually misses the crucial timing needed for proper treatment of the child's disorder because she is notified through the doctor's indifference and his apparently inactive, matter-of-fact attitude. At first she suspects the doctor's diagnosis and tries to attribute it to the unknown cause from a certain genetic problem and then she quickly wants to deny the whole situation that her child is really suffering from the cerebral palsy. The reality is too much for her to accept as it is and she would not believe her child is abnormal. Therefore, she even attempts depend on the power of God for its solution. 2. The mother, who goes thorough this kind of uncommon experiences, is totally devoted to the treatment and care of the child and completely ignores her own life and happiness. At the same time, she feels sorry for her other normal children she believes having not enough care and concern. Also, she feels sorry for the sick child when the child's brothers or sisters show special concern for the patient out of sympathy. It is sorry and not satisfied for her that the child is growing with abnormality and neighbor other around have inappropriate attitudes. Likewise, she is discontent with her husband's lack of concern about the child's treatment. She believes that the health care system in this society isn't fulfilling its due purpose. In the state of her utmost distress and anxiety, she always feels the need of competent consultants, and is angry about that her child is treated as an abnormal being, she is trying to hide the child from other people and to make him or her disappear, if possible. Although she doesn't have harmonious relation with her husband, she id happy when he shows his affection for the child and she feels relieved and thankful when the relatives don't mention about the child's condition Since the child's overall status of health is continuously in unstable conditions, requiring her all-time readiness for an emergency, she feels guilty of her child's illness toward the fEmily members as if it was her own fault to have borne such an abnormal child and she feels responsible for the child morally and financially if necessary Because her life is centered on taking care of the child, she cannot afford to enjoy her own life and happiness. She is a lonely mother, fatigued, with no proper relationship with other people around her. With this sense of guilt and responsibility as a mother of an unusual disease, she has no choice but to grieve her destiny from which she is not allowed to escape. 3. Nevertheless, the mother with the child suffering from the cerebral palsy does not easily give up the hope of getting her child cured and she believes that in the long run, though slower than hoped, her abnormal son or daughter will be eventually cured to become a normal sibling someday. This kind of hope is sustained by the mother's strong faith coming from observing the progress of other similar children getting better. Sometimes she is encouraged to have this faith by other mothers who share the same painful experiences, believing that her child will improve even more rapidly than others with the same palsy. Full of hope, she painstakingly waits for the child's healing. Moreover, she plans to have another child. she thinks that the patient child's brothers and sisters only can truly understand and look after the patients. However, when she notices that the progress of other children under the treatment does not look so hopeful, she is distressed by the thoughts that her child may never get well. Too, she is worried that the patient's brother or sister will be born as the same invalid with the cerebral disease. She is discouraged to have another baby as much as she is encouraged to. She is also troubled by the thought that in case she has another baby, she will have to be forced. to neglect the patient child, especially when she does have an extra hand or some reliable person to help her with taking care of the patient.