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1.
Article in English | WPRIM (Western Pacific) | ID: wpr-967464

ABSTRACT

Background@#The epidemiology of pathogenic bacteria varies according to the socioeconomic status and antimicrobial resistance status. However, longitudinal epidemiological studies to evaluate the changes in species distribution and antimicrobial susceptibility of pathogenic bacteria nationwide are lacking. We retrospectively investigated the nationwide trends in species distribution and antimicrobial susceptibility of pathogenic bacteria over the last 20 years in Korea. @*Methods@#From 1997 to 2016, annual cumulative antimicrobial susceptibility and species distribution data were collected from 12 university hospitals in five provinces and four metropolitan cities in South Korea. @*Results@#The prevalence of Staphylococcus aureus was the highest (13.1%) until 2012 but decreased to 10.3% in 2016, consistent with the decrease in oxacillin resistance from 76.1% in 2008 to 62.5% in 2016. While the cefotaxime resistance of Escherichia coli increased from 9.0% in 1997 to 34.2% in 2016, E. coli became the most common species since 2013, accounting for 14.5% of all isolates in 2016. Pseudomonas aeruginosa and Acinetobacter baumannii rose to third and fifth places in 2008 and 2010, respectively, while imipenem resistance increased from 13.9% to 30.8% and 0.7% to 73.5% during the study period, respectively.Streptococcus agalactiae became the most common pathogenic streptococcal species in 2016, as the prevalence of Streptococcus pneumoniae decreased since 2010. During the same period, pneumococcal penicillin susceptibility decreased to 79.0%, and levofloxacin susceptibility of S. agalactiae decreased to 77.1% in 2016. @*Conclusion@#The epidemiology of pathogenic bacteria has changed significantly over the past 20 years according to trends in antimicrobial resistance in Korea. Efforts to confine antimicrobial resistance would change the epidemiology of pathogenic bacteria and, consequently, the diagnosis and treatment of infectious diseases.

2.
Article in English | WPRIM (Western Pacific) | ID: wpr-966272

ABSTRACT

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.

3.
Article in English | WPRIM (Western Pacific) | ID: wpr-1001137

ABSTRACT

Background@#Clinical ethics support is a form of preventive ethics aimed at mediating ethicsrelated conflicts and managing ethical issues arising in the healthcare setting. However, limited evidence exists regarding the specific ethical issues in clinical practice. This study aimed to explore the diverse ethical issues of cases referred to clinical ethics support after the new legislation on hospice palliative care and end-of-life decision-making was implemented in Korea in 2018. @*Methods@#A retrospective study of cases referred to clinical ethics support at a university hospital in Korea from February 2018 to February 2021 was conducted. The ethical issues at the time of referral were analyzed via qualitative content analysis of the ethics consultationrelated documents. @*Results@#A total of 60 cases of 57 patients were included in the study, of whom 52.6% were men and 56.1% were older than 60 years of age. The majority of cases (80%) comprised patients from the intensive care unit. One-third of the patients were judged as being at the end-of-life stage. The most frequent ethical categories were identified as goals of care/ treatment (78.3%), decision-making (75%), relationship (41.7%), and end-of-life issues (31.7%). More specifically, best interests (71.7%), benefits and burdens/harms (61.7%), refusal (53.3%), and surrogate decision-making (33.3%), followed by withholding or withdrawal (28.3%) were the most frequent ethical issues reported, which became diversified by year. In addition, the ethical issues appeared to differ by age group and judgment of the end-of-life stage. @*Conclusion@#The findings of this study expand the current understanding of the diverse ethical issues including decision-making and goals of care/treatment that have been referred to clinical ethics support since the enforcement of the new legislation in Korea. This study suggests a need for further research on the longitudinal exploration of ethical issues and implementation of clinical ethics support in multiple healthcare centers.

4.
Article in English | WPRIM (Western Pacific) | ID: wpr-977223

ABSTRACT

Purpose@#Pediatric palliative care is a rapidly developing multidisciplinary approach that supports children with life-limiting conditions and their families. However, there is limited evidence on how to effectively support bereaved parents and siblings. The purpose of this study is to explore the therapeutic impact of art therapy for bereaved families, in accordance with John Bowlby’s four-stage theory of mourning. @*Methods@#This single-case study employed the consensual qualitative research method. Art therapy records of bereaved families were reviewed individually, and records from one case were selected. Verbal statements made during the art therapy sessions and photocopies of the artworks were analyzed to understand the mourning process of the family. @*Results@#A total of 113 statements and 12 artworks from 19 art therapy sessions were analyzed. As the art therapy progressed, each family member exhibited a pattern of engaging in more positive and healthy conversations in daily life, demonstrating the final stage of mourning: reorganization and recovery. The family dynamics also revealed that they reconstructed their inner world and redefined the meaning of loss, which is the final stage of mourning. The art therapy provided a safe environment for the family, allowing them to fulfill their wishes and regain the strength needed for recovery. @*Conclusion@#This study suggests that art therapy supports bereaved families in alleviating their psychological difficulties, engaging in a healthy mourning process, and functioning as members of society. Further research is needed to better understand the effect of art therapy as a bereavement support tool in pediatric palliative care.

5.
Article in English | WPRIM (Western Pacific) | ID: wpr-976951

ABSTRACT

Background@#Healthcare professionals often experience moral distress while providing endof-life care. This study explored how physicians and nurses experienced moral distress when they cared for critically and terminally ill patients in tertiary hospitals in South Korea. @*Methods@#This study used semi-structured in-depth interviews. A total of 22 people in two tertiary hospitals were interviewed, nine (40.9%) of which were physicians and 13 (59.1%) were nurses. The recorded interview files and memos were analyzed using grounded theory. @*Results@#Most physicians and nurses encountered similar feelings of anger, helplessness, and burden owing to a lack of appropriate resources for end-of-life care. However, the factors and contexts of their moral distress differed. Nurses mainly addressed poorly organized end-of-life care, intensive labor conditions without support for nurses, and providing care without participation in decision-making. Meanwhile, physicians addressed the prevailing misperceptions on end-of-life care, communication failure between physicians owing to hierarchy and fragmented disciplines, the burden of responsibility in making difficult decisions, and the burden of resource allocation. @*Conclusion@#Differences in moral distress between physicians and nurses leave them isolated and can affect communication regarding healthcare. Mutual understanding between job disciplines will enhance their communication and help resolve conflicts in end-of-life care.

6.
J Hosp Palliat Nurs ; 2022 Oct 18.
Article in English | MEDLINE | ID: mdl-36253898

ABSTRACT

This study aimed to identify parental needs for pediatric palliative care and obtain their opinions on developing pediatric palliative care in South Korea. This qualitative research design used inductive and deductive methods. The data were collected through semistructured interviews. A total of 6 parents actively caring for a child with life-threatening conditions and 7 bereaved parents participated in this study. A total of 707 significant statements, 43 subthemes, and 16 themes according to 6 structured matrices (advance care planning and symptom control, psychological and spiritual care, supporting everyday lives, end-of-life care and bereavement support, delivery model of pediatric palliative care, and unmet needs within current services) on the care and bereavement experiences of parents of children with life-threatening conditions were derived. Palliative care for children is a multidisciplinary approach to evaluate, prevent, and manage multifaceted symptoms and to support children with life-threatening conditions and their families. Our findings suggest that parents of children with life-threatening conditions in South Korea present multidimensional needs across the diagnostic groups and the illness trajectories and inform policy makers and health care professionals to design a pediatric palliative care delivery model. Further studies examining the unmet needs are required to enhance the quality of pediatric palliative care.

7.
Article in English | WPRIM (Western Pacific) | ID: wpr-913837

ABSTRACT

Purpose@#This study aimed to confirm the decision-making patterns for life-sustaining treatment (LST) and analyze medical service utilization changes after enforcement of the Life-Sustaining Treatment Decision-Making Act. @*Materials and Methods@#Of 1,237 patients who completed legal forms for life-sustaining treatment (hereafter called the LST form) at three academic hospitals and died at the same institutions, 1,018 cancer patients were included. Medical service utilization and costs were analyzed using claims data. @*Results@#The median time to death from completion of the LST form was three days (range, 0 to 248 days). Of these, 517 people died within two days of completing the document, and 36.1% of all patients prepared the LST form themselves. The frequency of use of the intensive care unit, continuous renal replacement therapy, and mechanical ventilation was significantly higher when the families filled out the form without knowing the patient’s intention. In the top 10% of the medical expense groups, the decision-makers for LST were family members rather than patients (28% patients vs. 32% family members who knew and 40% family members who did not know the patient’s intention). @*Conclusion@#The cancer patient’s own decision-making rather than the family’s decision was associated with earlier decision-making, less use of some critical treatments (except chemotherapy) and expensive evaluations, and a trend toward lower medical costs.

8.
Article in English | WPRIM (Western Pacific) | ID: wpr-937170

ABSTRACT

Prader-Willi syndrome (PWS) is characterized by hypotonia, distinctive facial features, hyperphagia, obesity, short stature, hypogonadism, intellectual disability, and behavior problems. Uncontrolled hyperphagia can lead to dangerous food-seeking behavior and with life-threatening obesity. Severe obesity is prone to obstructive sleep apnea (OSA) and can lead to cor pulmonale. This study reports on a case involving a 21-year-old man with PWS who developed OSA due to severe obesity, which led to cor pulmonale, a life-threatening complication. Multidisciplinary care provided in the intensive care unit included weight reduction, ventilation support, antipsychotics, sedative drugs, rehabilitation, and meticulous skin care. The patient did recover. To prevent severe obesity in adults with PWS, hyperphagia must be controlled, and the patient must also be managed by an endocrinologist throughout childhood.

9.
Article in English | WPRIM (Western Pacific) | ID: wpr-925482

ABSTRACT

Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated with acute pancreatitis (AP). We present the clinical manifestations, laboratory findings, and management of AP associated with HTG in a 14-year-old girl with DKA. The patient, with a 7-year history of type 2 diabetes presented with epigastric pain, 1 month after stopping insulin injection. DKA, severe HTG, and AP were diagnosed based on the laboratory and imaging tests. She recovered from DKA after conventional treatment for DKA, and her triglyceride (TG) level was reduced from 10,867 mg/dL to the normal range after 7 days of admission without antilipid medication. Given that her C-peptide level was not too low and considering her negative diabetes-related antibodies and high TG level, targeted gene panel sequencing was performed on the genes associated with diabetes and HTG. We identified a heterozygous mutation, c.4607C>T (p. Ala1537Val), in ABCC8 related to maturityonset diabetes of the young (MODY) 12. To our knowledge, this is the first reported case of HTG-induced AP with DKA in a patient with MODY. In addition, we reviewed the literature for pediatric cases of HTG with DKA. In patients with DKA, timely awareness of severe HTG related to insulin deficiency is crucial for improving the consequences of AP. We recommend considering AP in all DKA patients presenting with severe HTG to ensure early and proper management.

10.
Preprint in English | bioRxiv | ID: ppbiorxiv-446968

ABSTRACT

Many patients infected with coronaviruses, such as SARS-CoV-2 and NL63 that use ACE2 receptors to infect cells, exhibit gastrointestinal symptoms and viral proteins are found in the human gastrointestinal tract, yet little is known about the inflammatory and pathological effects of coronavirus infection on the human intestine. Here, we used a human intestine-on-a-chip (Intestine Chip) microfluidic culture device lined by patient organoid-derived intestinal epithelium interfaced with human vascular endothelium to study host cellular and inflammatory responses to infection with NL63 coronavirus. These organoid-derived intestinal epithelial cells dramatically increased their ACE2 protein levels when cultured under flow in the presence of peristalsis-like mechanical deformations in the Intestine Chips compared to when cultured statically as organoids or in Transwell inserts. Infection of the intestinal epithelium with NL63 on-chip led to inflammation of the endothelium as demonstrated by loss of barrier function, increased cytokine production, and recruitment of circulating peripheral blood mononuclear cells (PMBCs). Treatment of NL63 infected chips with the approved protease inhibitor drug, nafamostat, inhibited viral entry and resulted in a reduction in both viral load and cytokine secretion, whereas remdesivir, one of the few drugs approved for COVID19 patients, was not found to be effective and it also was toxic to the endothelium. This model of intestinal infection was also used to test the effects of other drugs that have been proposed for potential repurposing against SARS-CoV-2. Taken together, these data suggest that the human Intestine Chip might be useful as a human preclinical model for studying coronavirus related pathology as well as for testing of potential anti-viral or anti-inflammatory therapeutics.

11.
Article in English | WPRIM (Western Pacific) | ID: wpr-914747

ABSTRACT

Behçet’s disease is a chronic inflammatory disorder involving vessels of various sizes and organs, including the skin, joints, gastrointestinal tract, lungs, and cardiovascular system. The etiology of Behçet’s disease is unclear, and clinical diagnosis is important in the absence of definitive laboratory or pathological findings diagnostic of Behçet’s disease. Cardiac involvement is rare but might present as endocarditis, myocarditis, pericarditis, or intracardiac thrombosis. This report presents a case of Behçet’s disease involving the heart in a 22-year-old man with unusual manifestations of right ventricular fibrosis and intracardiac thrombosis. Cardiac magnetic resonance imaging revealed multiple intracardiac thrombi and delayed diffuse subendocardial enhancement involving the right ventricle. No peripheral eosinophilia was detected. Endomyocardial biopsy showed mixed inflammatory cell infiltrates. Based on the patient’s clinical history of oral ulcer and arthritis, a diagnosis of Behçet’s disease was made considering the clinical, radiological, and histological findings. Intracardiac thrombi and endomyocardial fibrosis are rare manifestations of Behçet’s disease, and the diagnosis is often a clinical challenge. Early diagnosis is important for appropriate management. Behçet’s disease should be considered in the differential diagnosis of patients with intracardiac thrombosis and endomyocardial fibrosis of the right chamber.

12.
Article in English | WPRIM (Western Pacific) | ID: wpr-889718

ABSTRACT

Purpose@#This study aimed to investigate difficulties doctors experience during life-sustaining treatment (LST) discussion with seriously ill patients and their families after enactment of the LST Decisions Act in February 2018. @*Materials and Methods@#A cross-sectional survey was conducted in a tertiary hospital in the Republic of Korea in August 2019. Six hundred eighty-six doctors who care for seriously ill patients were given a structured questionnaire, and difficulties during the discussion were examined. @*Results@#One hundred thirty-two doctors completed the questionnaire. Eighty-five percent answered they treat cancer patients. Most (86.4%) experienced considerable difficulties during LST discussions (mean score, 7.4±1.6/10). The two most common difficulties were communication with patients and family and determining when to discuss LST. Two-thirds of doctors found direct discussions with the patient difficult and said they would initiate LST discussions only with family. LST discussions were actually initiated later than considered appropriate. When medically assessing whether the patient is imminently dying, 56% of doctors experienced disagreements with other doctors, which could affect their decisions. @*Conclusion@#This study found that most doctors experienced serious difficulties regarding communication with patients and family and medical assessment of dying process during LST discussions. To alleviate these difficulties, further institutional support is needed to improve the LST discussion between doctors, patients, and family.

13.
Article in English | WPRIM (Western Pacific) | ID: wpr-889601

ABSTRACT

1,2-Diacetylbenzene (DAB) is a metabolite of 1,2-diethylbenzene, which is commonly used in the manufacture of plastics and gasoline. We examined the neurotoxic effects of DAB in young and old rats, particularly its effects on hippocampus. Previously, we reported DAB impairs hippocampal neurogenesis but that the underlying mechanism remained unclear. In this study, we evaluate the toxicities exhibited by DAB in the hippocampi of 6-month-old (young) and 20-month-old (old) male SD rats by treating animals intraperitoneally with DAB at 3 mg/kg/day for 1 week. Hippocampal areas were dissected from brains and RNA was extracted and subjected to RNA-seq analysis. RNA results showed animals exhibited age-dependent sensitivity to the neurotoxic effects of DAB. We observed that inflammatory pathways were up-regulated in old rats but that metabolism- and detoxification-related pathways were up-regulated in young rats. This result in old rats, especially upregulation of the TREM1 signaling pathway (an inflammatory response involved in Alzheimer’s disease (AD)) was confirmed by RT-PCR. Our study results provide a better understanding of age-dependent responses to DAB and new insight into the association between DAB and AD.

14.
Neonatal Medicine ; : 133-138, 2021.
Article in English | WPRIM (Western Pacific) | ID: wpr-902814

ABSTRACT

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

15.
Article in English | WPRIM (Western Pacific) | ID: wpr-902159

ABSTRACT

In the era of coronavirus disease 2019 (COVID-19), social distancing and strict visitation policies at hospitals have made it difficult for medical staff to provide high-quality endof-life (EOL) care to dying patients and their families. There are various issues related to EOL care, including psychological problems of patients and their families, difficulties in EOL decision-making, the complicated grief of the bereaved family, moral distress, and exhaustion of medical staff. In relation to these issues, we aimed to discuss practical considerations in providing high-quality EOL care in the COVID-19 pandemic. First, medical staff should discuss advance care planning as early as possible and use the parallel planning strategy. Second, medical staff should play a role in facilitating patient-family communication. Third, medical staff should actively and proactively evaluate and alleviate dying patients’ symptoms using non-verbal communication. Lastly, medical staff should provide care for family members of the dying patient, who may be particularly vulnerable to postbereavement problems in the COVID-19 era. Establishing a system of screening highrisk individuals for complicated grief and connecting them to bereavement support services might be considered. Despite the challenging and limited environment, providing EOL care is essential for patients to die with dignity in peace and for the remaining family to return to life after the loved one’s death. Efforts considering the practical issues faced by all medical staff and healthcare institutions caring for dying patients should be made.

16.
Article in English | WPRIM (Western Pacific) | ID: wpr-899891

ABSTRACT

Considering the mild degree of coronavirus disease 2019 (COVID-19) in children and the enormous stress caused by isolation in unfamiliar places, policies requiring mandatory isolation at medical facilities should be reevaluated especially given the impact of the pandemic on the availability of hospital beds. In this study, we assessed the usefulness of facility isolation and the transmissibility of severe acute respiratory syndrome coronavirus 2 by infected children to uninfected caregivers in isolation units at a hospital and a residential treatment center in Seoul during August-November 2020. Fifty-three children were included and median age was 4 years (range, 0–18). All were mildly ill or asymptomatic and isolated for a median duration of 12 days. Thirty percent stayed home longer than 2 days before entering isolation units from symptom onset. Among 15 uninfected caregivers, none became infected when they used facemasks and practiced hand hygiene. The results suggest children with mild COVID-19 may be cared safely at home by a caregiver in conditions with adherence to the preventive measures of wearing facemasks and practicing hand hygiene.

17.
Article in English | WPRIM (Western Pacific) | ID: wpr-897422

ABSTRACT

Purpose@#This study aimed to investigate difficulties doctors experience during life-sustaining treatment (LST) discussion with seriously ill patients and their families after enactment of the LST Decisions Act in February 2018. @*Materials and Methods@#A cross-sectional survey was conducted in a tertiary hospital in the Republic of Korea in August 2019. Six hundred eighty-six doctors who care for seriously ill patients were given a structured questionnaire, and difficulties during the discussion were examined. @*Results@#One hundred thirty-two doctors completed the questionnaire. Eighty-five percent answered they treat cancer patients. Most (86.4%) experienced considerable difficulties during LST discussions (mean score, 7.4±1.6/10). The two most common difficulties were communication with patients and family and determining when to discuss LST. Two-thirds of doctors found direct discussions with the patient difficult and said they would initiate LST discussions only with family. LST discussions were actually initiated later than considered appropriate. When medically assessing whether the patient is imminently dying, 56% of doctors experienced disagreements with other doctors, which could affect their decisions. @*Conclusion@#This study found that most doctors experienced serious difficulties regarding communication with patients and family and medical assessment of dying process during LST discussions. To alleviate these difficulties, further institutional support is needed to improve the LST discussion between doctors, patients, and family.

18.
Article in English | WPRIM (Western Pacific) | ID: wpr-897305

ABSTRACT

1,2-Diacetylbenzene (DAB) is a metabolite of 1,2-diethylbenzene, which is commonly used in the manufacture of plastics and gasoline. We examined the neurotoxic effects of DAB in young and old rats, particularly its effects on hippocampus. Previously, we reported DAB impairs hippocampal neurogenesis but that the underlying mechanism remained unclear. In this study, we evaluate the toxicities exhibited by DAB in the hippocampi of 6-month-old (young) and 20-month-old (old) male SD rats by treating animals intraperitoneally with DAB at 3 mg/kg/day for 1 week. Hippocampal areas were dissected from brains and RNA was extracted and subjected to RNA-seq analysis. RNA results showed animals exhibited age-dependent sensitivity to the neurotoxic effects of DAB. We observed that inflammatory pathways were up-regulated in old rats but that metabolism- and detoxification-related pathways were up-regulated in young rats. This result in old rats, especially upregulation of the TREM1 signaling pathway (an inflammatory response involved in Alzheimer’s disease (AD)) was confirmed by RT-PCR. Our study results provide a better understanding of age-dependent responses to DAB and new insight into the association between DAB and AD.

19.
Neonatal Medicine ; : 133-138, 2021.
Article in English | WPRIM (Western Pacific) | ID: wpr-895110

ABSTRACT

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

20.
Article in English | WPRIM (Western Pacific) | ID: wpr-894455

ABSTRACT

In the era of coronavirus disease 2019 (COVID-19), social distancing and strict visitation policies at hospitals have made it difficult for medical staff to provide high-quality endof-life (EOL) care to dying patients and their families. There are various issues related to EOL care, including psychological problems of patients and their families, difficulties in EOL decision-making, the complicated grief of the bereaved family, moral distress, and exhaustion of medical staff. In relation to these issues, we aimed to discuss practical considerations in providing high-quality EOL care in the COVID-19 pandemic. First, medical staff should discuss advance care planning as early as possible and use the parallel planning strategy. Second, medical staff should play a role in facilitating patient-family communication. Third, medical staff should actively and proactively evaluate and alleviate dying patients’ symptoms using non-verbal communication. Lastly, medical staff should provide care for family members of the dying patient, who may be particularly vulnerable to postbereavement problems in the COVID-19 era. Establishing a system of screening highrisk individuals for complicated grief and connecting them to bereavement support services might be considered. Despite the challenging and limited environment, providing EOL care is essential for patients to die with dignity in peace and for the remaining family to return to life after the loved one’s death. Efforts considering the practical issues faced by all medical staff and healthcare institutions caring for dying patients should be made.

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