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Background: To investigate postnatal growth patterns and their relationship with the neurodevelopment of preterm infants born small for gestational age (SGA). Methods: This retrospective cohort study analyzed 90 infants born SGA with a birthweight

BACKGROUND Patients with high fall risk tend to spend substantial time in bed due to reduced physical activity. Thus, accidental falls frequently occur during body position changes, including when a person rises from the bed to stand. This study examined the existing literature on a person’s activity while lying on the bed and accidental falls or fall risk estimation. OBJECTIVE To conduct a systematic review of the current literature to examine the relationship between a person’s in-bed physical activity/movements and accidental falls or fall risk estimation. METHODS We searched Pubmed, Scopus, and Web of Science for articles that mentioned in-bed movements and falls, published in English from January 2010 to June 2022. We included eligible articles for full review by a two-step screening process. The initial screening included the articles whose abstracts mentioned falls or fall risk and physical activity/movement on the bed, and then full article reviews were conducted to confirm the eligibility. Articles that did not meet these criteria were not considered in the review. During the full review, we extracted the information on the citations, research designs, participant descriptions, in-bed movements, and fall risk assessment. We also extracted the information on sensing technologies and measurement characteristics, if they were considered in the article. Finally, we synthesized the extracted information to report our findings. RESULTS A total of 40 studies were eligible for our review. Various methods were considered to assess fall risk, including scoring the fall risk, testing physical functions (e.g., functional ambulation profiles), a patient reporting a history of falls or describing the fear of falling, and detecting patient-related events increasing the fall risk. Examples of in-bed movements were unattended bed exit, difficulty (e.g., rocking motions) rising from the bed to sit or stand, and body position on the edge of the bed. Out of 9 interventional studies found, only three interventional studies reported an association between in-bed movements and fall risk. These studies aimed to evaluate sensor-based fall risk monitoring systems on the hospital floors and found that detecting unattended bed exits was associated with reduced fall rate, i.e., falls per patient-days, especially for those with increased fall probability. CONCLUSIONS The definitions of fall risk and in-bed movement varied widely across reviewed articles. Studies should report clear definitions of fall risk and in-bed movement. We found insufficient evidence of the relationships between in-bed movements and fall risk in the literature. Thus, we encourage future studies to identify and validate the types of in-bed movements specific to increased or increasing fall risks.

Falls and fall-related injuries are significant public health issues for adults 65 years of age and older. Fall-related injuries are among the most expensive medical conditions. Mild cognitive impairment (MCI) and housing conditions are each independent risk factors for multiple falls among older adults and there is increasing evidence of the adverse effect of MCI on balance, stride, gait speed and increasing fall risk. We developed an innovative technology-supported intervention called Sense4Safety to 1) identify escalating risk for falls through real-time in-home passive sensor monitoring (using depth sensors); 2) employ machine learning to inform individualized alerts for fall risk; and 3) link ‘at risk’ socially vulnerable older adults with a tele-coach who guides them in implementing evidence-based individualized plans to reduce fall-risk. The purpose of this study was a) to examine preferences and attitudes of low-income older adults towards an in-home sensor-based system to inform fall prevention strategies; and b) solicit feedback from and validate the intervention protocols by clinical experts in fall prevention, fall risk assessment and geriatrics. We conducted one hour interview sessions with a total of 10 older adults and 10 clinical experts. Sessions were transcribed and analyzed. Findings included perceived benefits and challenges, recommendations for refinement of the intervention (including educational components and different visualization approaches for sensor data) and the role of family members or trusted others in addressing fall risk. We highlight clinical and ethical implications resulting from the use of passive monitoring for socially vulnerable older adults with MCI.

Growth charts are essential for monitoring the postnatal growth of preterm infants. The preterm postnatal follow-up study (PPFS) of the Intergrowth-21st Project provides new growth standards based on a longitudinal study. This study was conducted to investigate the prevalence of extrautrine growth restriction (EUGR) and the associated factors of EUGR in preterm infants, using the PPFS charts and the Fenton charts. Data of 1,356 infants with gestational age (GA) less than 28 weeks from the Korean Neonatal Network were analysed. The prevalence of small for gestational age (SGA) of weight and length was higher with the Intergrowth charts than with the Fenton charts. EUGR in weight and length was more prevalent when using the Fenton charts. Multivariate analysis showed that low GA, high birthweight z score, male, treated patent ductus arteriosus (PDA), necrotizing enterocolitis, intraventricular haemorrhage and duration of parenteral nutrition (PN) were associated with EUGR in weight by the Intergrowth charts. High birthweight z score, treated PDA and PN duration were associated with EUGR defined by the Fenton charts. Conclusion: Compared to the Fenton charts, SGA was more defined and EUGR was less prevalent in extremely low gestational infants, while EUGR defined by the Intergrowth charts categorized infants with adverse clinical courses more elaborately.What is Known:• Preterm infants are at risk of postnatal growth restriction (PGR), although optimal postnatal growth is important for the long-term outcomes.• Growth charts are essential tools to monitor the postnatal growth of preterm infants.What is New:• PGR of weight and length were less defined with the Intergrowth charts than the Fenton charts.• PGR defined by the Intergrowth preterm postnatal follow-up study (PPFS) chart categorized preterm infants with morbidities more elaborately than the Fenton charts. Electronic supplementary material The online version of this article (10.1007/s00431-020-03796-0) contains supplementary material, which is available to authorized users.

Abstract. Background: Youth suicides have diverse characteristics according to the young people's developmental stages. Warning signs and communication of suicidal intent can be vague among early adolescents, while mental health problems may be more evidently related to suicidal ideation in older adolescents. Understanding the developmental characteristics of youth suicide is necessary for effective suicide prevention. Aims: We explored the differences between children and adolescents who died by suicide and the characteristics of these young people as observed by their school teachers. Method: We analyzed teachers' mandatory postmortem reports of suicides among 308 Korean students. We compared: suicide-related information including personal, familial, and school factors; stressful life events; and participation in interventions among elementary, middle, and high school students who died by suicide. We also assessed the distribution of student suicides per month. Results: Suicide among elementary school students increased during school vacations, and suicide among middle and high school students increased during the school semester. According to the teachers' reports, elementary school students who died by suicide were more extroverted and had better academic achievements than their high school peers, and had significantly lower levels of substance/tobacco use. Elementary school students who died by suicide showed significantly less academic stress and use of external professional help than did other groups. Limitations: Because this research is based on mandatory teacher reports, the subjective opinions of teachers may have affected the reliability of the data. Suicide by out-of-school youth was not included. Conclusion: School-based suicide prevention should be implemented in accordance with young people's developmental characteristics.

Background Patients with pulpal and periapical conditions often seek treatment for pain, intraoral swelling, or both. Even when definitive, conservative dental treatment (DCDT) is an option, antibiotics are often prescribed. The purpose of this review was to summarize available evidence regarding the effect of antibiotics, either alone or as adjuncts to DCDT, to treat immunocompetent adults with pulpal and periapical conditions, as well as additional population-level harms associated with antibiotic use. Type of Studies Reviewed The authors updated 2 preexisting systematic reviews to identify newly published randomized controlled trials. They also searched for systematic reviews to inform additional harm outcomes. They conducted searches in MEDLINE, Embase, the Cochrane Library, and the Cumulative Index to Nursing and Allied Health Literature. Pairs of reviewers independently conducted study selection, data extraction, and assessment of risk of bias and certainty in the evidence using the Grading of Recommendations Assessment, Development, and Evaluation approach. Results The authors found no new trials via the update of the preexisting reviews. Ultimately, 3 trials and 8 additional reports proved eligible for this review. Trial estimates for all outcomes suggested both a benefit and harm over 7 days (very low to low certainty evidence). The magnitude of additional harms related to antibiotic use for any condition were potentially large (very low to moderate certainty evidence). Conclusions and Practical Implications Evidence for antibiotics, either alone or as adjuncts to DCDT, showed both a benefit and a harm for outcomes of pain and intraoral swelling and a large potential magnitude of effect in regard to additional harm outcomes. The impact of dental antibiotic prescribing requires further research.

For older adults who receive hospice services in the United States, family members often become their primary caregivers playing an essential role in delivering care. Nearly 25% of hospice patients and families report the need for improved communication and additional emotional support. However, there are few interventions targeting specifically caregivers. Whereas the term caregiving implies a unidirectional flow of benefits from the caregiver to the care recipient, caregivers also experience emotional, cognitive, behavioral, or interpersonal rewards from caring for a loved one. Research has demonstrated that positive gains are common among caregivers, often manifested with negative experiences. Positive reappraisal, a form of emotion-focused coping, is especially relevant when dealing with intractable stressors. Positive reappraisal is supplemental to problem-solving therapy interventions, yet this component has never been tested in a hospice setting. In this study, we wanted to understand hospice caregivers’ impressions of a problem-solving therapy intervention enhanced with positive reappraisal modules (called PISCESplus). We conducted a qualitative study examining hospice caregivers’ perceptions of positive reappraisal. Participants received the intervention (as part of a larger clinical trial). Caregivers’ exit interviews were audio-recorded and transcribed. Thirty hospice caregivers’ interviews were analyzed. Many participants reported a paradigm shift in their thought processes. Positive reappraisal helped them reframe negative emotions to positive ones, declutter their minds, and acknowledge that caregiving required work and effort. Study findings demonstrate the potential of this intervention to improve the coping skills of caregivers in the hospice setting.

Purpose This study aims to determine whether comparable target regions of interest (ROIs) and cut-offs can be used across [18F]flortaucipir, [18F]RO948, and [18F]MK6240 tau positron emission tomography (PET) tracers for differential diagnosis of Alzheimer’s disease (AD) dementia vs either cognitively unimpaired (CU) individuals or non-AD neurodegenerative diseases. Methods A total of 1755 participants underwent tau PET using either [18F]flortaucipir (n = 975), [18F]RO948 (n = 493), or [18F]MK6240 (n = 287). SUVR values were calculated across four theory-driven ROIs and several tracer-specific data-driven (hierarchical clustering) regions of interest (ROIs). Diagnostic performance and cut-offs for ROIs were determined using receiver operating characteristic analyses and the Youden index, respectively. Results Comparable diagnostic performance (area under the receiver operating characteristic curve [AUC]) was observed between theory- and data-driven ROIs. The theory-defined temporal meta-ROI generally performed very well for all three tracers (AUCs: 0.926–0.996). An SUVR value of approximately 1.35 was a common threshold when using this ROI. Conclusion The temporal meta-ROI can be used for differential diagnosis of dementia patients with [18F]flortaucipir, [18F]RO948, and [18F]MK6240 tau PET with high accuracy, and that using very similar cut-offs of around 1.35 SUVR. This ROI/SUVR cut-off can also be applied across tracers to define tau positivity.

Background: Antenatal magnesium sulfate is widely used as a tocolytic, for maternal seizures, and for seizure prophylaxis in preeclampsia. Recent studies have suggested that antenatal magnesium sulfate use is associated with favorable neurodevelopmental outcomes in preterm infants. However, there are concerns regarding the effects of antenatal magnesium sulfate on neonates, especially regarding gastrointestinal morbidities. This study aims to explore the effects of antenatal magnesium sulfate on intestinal morbidities requiring surgery in preterm infants. Methods: This was a retrospective cohort study of 181 preterm infants who were born at less than 28 weeks of gestational age. Subjects were categorized as infants exposed to antenatal magnesium sulfate and those not exposed to antenatal magnesium sulfate. Results: Antenatal magnesium sulfate was associated with a decreased risk of surgical conditions of the intestine (OR 0.393, 95% CI 0.170–0.905). The multivariate analysis showed that the duration of antenatal magnesium sulfate use was associated with surgical conditions of the intestine (adjusted OR 0.766, 95% CI 0.589–0.997). In the

Background: To investigate postnatal growth patterns and their relationship with neurodevelopment in preterm infants born small for gestational age (SGA).Methods: This study analyzed 90 infants born SGA with birth weight Results: Z-score of HC in SGA infants increased from birth to 40 weeks PMA. Failure of head growth catch-up to 10th percentile by 4 months CA and all three parameters by 9 months CA and onwards were associated with worse neurodevelopmental outcomes. Z-score changes in head growth between birth and 35 weeks PMA were significantly associated with neurodevelopmental outcome (p=0.006, adjusted odds ratio 6.964, 95% confidence interval: 1.763-27.506). Conclusions: Head growth during neonatal intensive care unit stay were associated with neurodevelopmental outcomes in preterm SGA infants. Preterm SGA infants are predicted to have optimal neurodevelopment at 18 months CA, if the head growth catch-up is achieved by 4 months CA and length and weight by 9 months CA.

Background Antenatal magnesium sulfate is widely used as a tocolytic, for maternal seizures, and for seizure prophylaxis in preeclampsia. Recent studies have suggested that antenatal magnesium sulfate use is associated with favorable neurodevelopmental outcomes in preterm infants. However, there are concerns regarding the neonatal effects of antenatal magnesium sulfate, especially regarding gastrointestinal morbidities. This study aims to explore the effects of antenatal magnesium sulfate on intestinal morbidities requiring surgery in preterm infants.Methods This was a retrospective cohort study of 181 preterm infants who were born at less than 28 weeks of gestational age. Subjects were categorized as infants exposed to antenatal magnesium sulfate and those not exposed to antenatal magnesium sulfate.Results Antenatal magnesium sulfate was associated with a lower incidence of surgical conditions of the intestine (OR 0.393, 95% CI 0.170–0.905). Multivariate analysis showed that the duration of antenatal magnesium sulfate use was associated with surgical conditions of the intestine (adjusted OR 0.766, 95% CI 0.589–0.997). In the Conclusion Antenatal magnesium sulfate use appears to have a protective effect on intestinal morbidities requiring surgery in preterm infants in a duration-dependent manner. Association of antenatal magnesium sulfate use and decreased intestinal morbidities requiring surgery was more distinct in preterm infants

The prevalence of pregnancy-induced hypertension (PIH) and preeclampsia (PE) are 5–10% and 2–4%, respectively. PIH might affect angiogenesis in preterm neonates, but its association with bronchopulmonary dysplasia (BPD) remains controversial. This study evaluated the association between PIH and BPD in very low-birth weight infants. We retrospectively analysed the maternal, perinatal, and neonatal data of preterm infants born before 30 weeks of gestation, selected from the nationwide registry of very low-birth weight infants, between January 2013 and December 2014. As a result, 1,624 infants without maternal PIH (gestational age: 27.3 ± 1.8 weeks) and 203 infants with maternal PIH (28.0 ± 1.4 weeks, p

Predicting developmental outcomes with growth measurement would be beneficial for primary healthcare or in developing countries with low medical resources. This study aimed to identify physical growth measures that indicate neurodevelopment in very preterm infants. Preterm infants, born at &lt, 32 weeks&rsquo, gestation or weighing &lt, 1500 g, were included. We calculated the changes in z-score of weight, length, and head circumference (HC) at different time points: birth, postmenstrual age (PMA) 35 weeks, and 4 and 18 months corrected age (CA). We examined the relationship between growth and Bayley-III scores using linear regression. Among 122 infants, HC at 4 months CA and HC growth between PMA 35 weeks and 4 months CA showed a positive correlation with Bayley-III scores in appropriate-for-gestational-age infants (AGAs). Weight and length increases between birth and 18 months CA were also associated with AGAs&rsquo, development. In small-for-gestational-age infants (SGAs), only birthweight&rsquo, s z-score was associated with improved neurodevelopmental outcomes. HC at 4 months CA was an important indicator of favorable neurodevelopmental outcomes, and head growth spurt between PMA 35 weeks and 4 months CA contributed to this benefit in preterm AGAs. The period and indices should be monitored differently for SGAs and AGAs.

Altered hemodynamics associated with twin to twin transfusion syndrome (TTTS) can be manifested in the fetal and neonatal heart. This study evaluated the association between cardiac manifestations immediately after birth and brain injury in preterm infants with TTTS. Medical records of preterm infants who were born at

Background Clinical trials have shown combinations of anti–tumor necrosis factor biologicals plus methotrexate (MTX) are more effective treatments for rheumatoid arthritis than biological monotherapies, based, in part, on the assumption that MTX reduces the immunogenicity of biologicals. However, co-treatment with the anti–interleukin-6 receptor-alpha antibody tocilizumab (TCZ) and MTX does not demonstrate the same level of incremental benefit over TCZ monotherapy. Using the human primary cell based BioMAP phenotypic profiling platform, we investigated the impact of TCZ, adalimumab (ADA), and the small molecule drug tofacitinib (TOF), alone and in combination with MTX, on translational biomarkers that could indicate unique pharmacodynamic interactions outside those of reduced immunogenicity. Methods TCZ, ADA, and TOF, alone and in combination with MTX, were profiled in BioMAP systems at concentrations close to clinical exposure levels: TCZ, 200 μg/ml; TOF1, 1.1 μM; TOF2, 0.12 µM; MTX, 10 μM. Changes in biomarkers were evaluated by statistical methods to determine whether combinations differed from the individual agents. Results Although the BioMAP activity profile for TCZ + MTX was not significantly different from that for TCZ alone, profiles for ADA + MTX and TOF1 + MTX or TOF2 + MTX had a greater number of statistically significant different activities (P

Background We investigated the characteristics of adolescents who committed suicide in South Korea, and how these characteristics differed by gender. Method Data from middle and high school students who committed suicide between 2014 and 2016 were analyzed. We evaluated differences in suicide method and place, personal characteristics, and school life characteristics by gender using the Chi square test and t test. Results Jumping from a high place was the most common suicide method for both male and female students. A significantly greater proportion of female adolescents had experienced depressive symptoms, previous self-injury, previous suicide attempts, and had problems with school attendance and peers. Additionally, they were more likely to be classified as high risk according to a school-based mental health screening test and to utilize professional mental health treatment services. Conclusion Our results demonstrate that adolescents who committed suicide exhibited gender differences in personal characteristics and school life. These characteristics might aid in the development of adolescent suicide policies and intervention programs. Electronic supplementary material The online version of this article (10.1186/s13034-019-0274-3) contains supplementary material, which is available to authorized users.

Trisomy 9 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. In this report, we present an extremely low birth weight (ELBW) infant with trisomy 9 mosaicism. A male preterm infant born at 31+3 weeks of gestation, weighing 922 g, was delivered by cesarean section. Prenatal findings revealed severe intrauterine growth restriction and oligohydramnios. The result of non-invasive prenatal test was a low risk for chromosomal anomalies including trisomy 9. After birth, dysmorphic features were present, such as microcephaly, palpebral fissure, low set ears, a bulbous nose, micrognathia, and a high-arched palate. He also had a single umbilical artery, bilateral inguinal hernia, and cryptorchidism. Intra-organ evaluation revealed ventriculomegaly, mesocardia, absent right brachiocephalic trunk with double superior vena cava, and bilateral renal hypoplasia. He needed the respiratory support of a humidified high-flow nasal cannula until 4 months of corrected age. He had feeding difficulties requiring tube feeding because of poor oral sucking. The result of a postnatal chromosome study confirmed trisomy 9 mosaicism. To the best of our knowledge, this is the first case of an ELBW infant with trisomy 9 mosaicism in South Korea.

The NFIA transcription factor is a glioma tumor promoter. The mechanism by which NFIA regulates glioma cell survival and drug resistance is unknown. Here we report that the NFIA pro-survival effect is mediated via an NFIA-NFκB p65 feedforward loop. We examined effects of gain- and loss-of-function manipulations of NFIA and NFκB p65 on cell growth, apoptosis and sensitivity to chemotherapy in patient-derived GBM cells. NFIA inhibited apoptosis by activation of NFkB p65 and its downstream anti-apoptotic factors. Induction of NFκB by NFIA was required for apoptosis evasion, and inhibition of NFκB effectively reversed the NFIA anti-apoptotic effect. Conversely, NFIA knockdown decreased expression of NFκB and its downstream anti-apoptotic genes and increased baseline apoptosis. Using transcriptome- and genome-wide approach, we demonstrated that NFIA directly regulated NFκB transcription. In addition, we found that NFκB activated the NFIA transcription and that knockdown of NFIA was sufficient to attenuate the NFκB pro-survival effect, suggesting a reciprocal regulation between NFIA and NFκB in governing GBM cell growth and survival. Supporting this, NFIA and NFκB expression levels were highly correlated in human GBMs and patient-derived GBM cells. Interestingly, we found that NFIA has splice isoforms in human GBM, which significantly promoted growth of GBM cells and malignant transformation of normal astrocytes. Furthermore, NFIA and the two active isoforms potently increased activity of NFκB p65 in GBM cells. These findings suggest that GBM-active NFIA isoforms differentially affect GBM initiation and progression in part by activating NFκB p65. Collectively, these data define a novel NFIA-NFκB feedforward regulation that promotes GBM tumorigenesis and malignant behavior.

The South Korean government is pursuing a national project to use the complex carbonates found in coal ash to capture CO2 and promote coal ash recycling. One possible approach is the use of coal ash as fill material in mine reclamation, but environmental concerns have so far blocked the implementation of this procedure, and no relevant regulations or guidelines exist. In this study, we review international approaches to the environmental management of coal ash recycling and consider how the lessons learned can be applied to South Korea. Each studied country was proactively using coal ash for beneficial uses under locally suitable conditions. The United States, European Union, United Kingdom, Australia, and Japan are all putting coal ash to beneficial use following thorough analyses of the environmental impact based on several considerations, including bulk concentration, coal ash leachate concentration, field inspections, and water quality monitoring. Our findings can contribute to the development of proper regulations and policies to encourage the use of recycled coal ash in South Korea as an approach to managing carbon emissions and climate changes. There are currently no relevant regulations in South Korea, so we consider the adoption of the strictest standards at each stage of the other cases at the time of introduction. Based on our findings, detailed and appropriate management guidelines can be developed in the future. Establishing management plans for complex carbonates, verifying their environmental stability, and using them as fill material will provide clear benefits for South Korea in the future.

Paraoxonase-2 (PON2), a member of paraoxonase family, is an anti-oxidant enzyme that is implicated in cell survival. Recent evidence demonstrated that PON2 promotes apoptosis resistance in the selective tumor cells. Here, we report genetic regulation and role of PON2 in glioma. We showed that PON2 is highly expressed in glioblastomas (GBM) compared to non-tumor brains and that high PON2 expression is associated with poor survival in patients with GBM. Functional studies showed that knockdown of PON2 inhibits cell growth, induces apoptosis, and increases pro-apoptotic factor CHOP. Using transcriptome and transcription factor motif analysis, we showed that Nuclear Factor I-A (NFIA), a glioma-promoting transcription factor, positively regulates PON2 transcription and protein level and that PON2 and NFIA expression is highly correlated in GBM. Moreover, NFIA directly regulated PON2 transcription through binding to the PON2 promoter. Consistent with this finding, PON2 knockdown-induced growth inhibition is reversed by ectopic expression of NFIA. Furthermore, Nfia-deficient brain shows decrease in expression of PON2, providing genetic evidence that supports NFIA-PON2 regulatory relationship. Collectively, these data suggest that the pro-survival effect of PON2 is at least partly mediated by NFIA in GBM, advancing our understanding of the emerging role of PON2 in glioma.

BACKGROUND Perineural invasion (PNI) by cutaneous squamous cell carcinoma (CSCC) and basal cell carcinoma (BCC) is an infrequent but not rare complication of traditionally low-morbidity skin cancers that can lead to catastrophic sequelae; 2.5% to 14% of CSCC and approximately 3% of BCC exhibit PNI. Tumors with PNI tend to be larger, have greater subclinical extension, have a higher rate of recurrence, and have a greater risk of metastases. Tumors with PNI may result in major neurologic deficits. OBJECTIVE To review current recommendations for the management of PNI and to evaluate a treatment strategy involving excision using Mohs micrographic surgery (MMS) followed by adjunctive radiotherapy. MATERIALS AND METHODS Cases of PNI treated with MMS and radiotherapy were reviewed for recurrence, disease-free follow-up, and adverse events. RESULTS Twelve patients with incidental PNI treated with MMS and adjunctive radiotherapy are presented. After 3 to 32 months of follow-up, there had been no recurrences. Adverse events from radiotherapy were minor and self-limited. CONCLUSIONS The use of adjunctive radiotherapy in these patients remains controversial. When managing superficial skin tumors with PNI, a multidisciplinary team including a cutaneous surgeon and a radiation oncologist familiar with PNI is recommended.

목적: 본 연구에서는 서울대학교 어린이병원에서 범저감마글로불린혈증(X-linked agammaglobu-linemia [XLA])로 진단된 환자들의 임상적 증상 및 치료에 대해서 보고하고자 하였다. 방법: 14명의 남자 환자가 XLA로 진단되었으며 CD19+ B 세포가 2% 미만이며 Bruton’s tyrosine kinase (Btk) 유전자 돌연변이가 있는 경우를 기준으로 하였다. 결과: 모든 XLA 환자에서 반복적인 세균성 감염이 있었고 환자의 20%에서 호중구 감소증이 있었으며 환자 어머니의 75%가 보인자였다. Btk gene study에서는 돌연변이가 다양한 부위에서 나타났으며 특정부위에서 집중적으로 발생하지는 않았다. 면역글로불린 정맥주사 후 반복적인 세균성 감염은 줄어들었으나 합병증으로 기관지 확장증이 14명 중 3명, 지속적인 부비동염은 4명에서 발생하였다. 결론: 4세 이전 세균 감염이 반복되는 경우 XLA와 같은 체액성 면역결핍을 의심하여 글로불린 검사를 하는 것이 조기 진단에 중요하며 Btk 유전자변이 검사를 시행하여 확진한 후 면역글로불린 정맥주사 및 예방적 항생제 등 적절한 치료를 통해 합병증을 줄이고 무 질병 상태를 유지할 수 있다.