Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5

Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.

Parenting experiences among fathers of prematurely-born children with cerebral palsy in South Korea

Purpose@#The symptoms and impairments caused by cerebral palsy usually require long-term treatment, resulting in a substantial burden on the family of affected children. This study explored the experiences of fathers with prematurely-born children with cerebral palsy, with a focus on how such experiences influenced their families. @*Methods@#A qualitative case study method was used. Nine subjects were recruited from April 2018 to June 2019 at one hospital, and each was interviewed three times by a neonatal nurse. @*Results@#Five core experiences of fathers were identified: "regret for an insufficient initial response", "confronting my child born as a premature baby", "the position of being a dad who can't do anything", "the process of treatment like a tunnel with no exit", and "a father's getting meaning in life through children". These stories covered an individual's timeline and family interactions. @*Conclusion@#Our findings suggest that fathers of prematurely-born children tend to suppress their emotions; therefore, a novel intervention program to encourage fathers' emotional expression and to support healthier interactions with their families is needed. Moreover, our findings could contribute basic information for the construction of a community-based support system to aid families, including prematurely-born children and other persons with impairments.

Empty Sella Syndrome Associated with Growth Hormone Deficiency:the First Case Report of WeissKruszka Syndrome

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. We report the first Korean boy with molecularly confirmed WSKA presenting with an atypical manifestation. A 16-year-old boy with a history of bilateral ptosis surgery presented with short stature (−3.49 standard deviation score) and delayed puberty. The patient showed characteristic craniofacial features including an inverted triangular-shaped head, exaggerated Cupid's bow, arched eyebrows, down-slanting palpebral fissures, and poorly expressive face. He had a mild degree of intellectual disability and mild hypotonia. Endocrine studies in the patient demonstrated complete growth hormone deficiency (GHD) associated with empty sella syndrome (ESS), based on a magnetic resonance imaging study for the brain that showed a flattened pituitary gland and cerebrospinal fluid space herniated into the sella turcica. To identify the genetic cause, we performed whole exome sequencing (WES). Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. This is the first case of WSKA accompanied by primary ESS associated with GHD. More clinical and functional studies are needed to elucidate this association.

Empty Sella Syndrome Associated with Growth Hormone Deficiency:the First Case Report of WeissKruszka Syndrome

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. We report the first Korean boy with molecularly confirmed WSKA presenting with an atypical manifestation. A 16-year-old boy with a history of bilateral ptosis surgery presented with short stature (−3.49 standard deviation score) and delayed puberty. The patient showed characteristic craniofacial features including an inverted triangular-shaped head, exaggerated Cupid's bow, arched eyebrows, down-slanting palpebral fissures, and poorly expressive face. He had a mild degree of intellectual disability and mild hypotonia. Endocrine studies in the patient demonstrated complete growth hormone deficiency (GHD) associated with empty sella syndrome (ESS), based on a magnetic resonance imaging study for the brain that showed a flattened pituitary gland and cerebrospinal fluid space herniated into the sella turcica. To identify the genetic cause, we performed whole exome sequencing (WES). Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. This is the first case of WSKA accompanied by primary ESS associated with GHD. More clinical and functional studies are needed to elucidate this association.

Ki-67 labeling index as a prognostic marker in advanced stomach cancer

PURPOSE: Proliferation marker Ki-67 is widely used in cancer prognosis prediction. We tried to investigate the role of Ki-67 as a prognostic factor in stomach cancer after surgery in this study. METHODS: We retrospectively evaluated 251 patients who underwent curative resection for gastric cancer from 2010 to 2015. In pathologic examination, Ki-67 labeling index was defined as the percentage of Ki-67 antigen positive cells. Prognostic significance of Ki-67 for gastric cancer was evaluated. Disease-free survival (DFS) was assessed as a primary end-point. RESULTS: The median follow-up period was 28.0 months. Thirty-one patients (12.4%) showed Ki-67 labeling index (LI) lower than 25%. Sixty-eight patients (26.6%) showed recurrence during follow-up period. Recurrence was associated with Ki-67 LI level (≤25%, P = 0.016), and lymph node metastasis status (P = 0.002). High Ki-67 LI level (>25%) was also related to p53 positivity (P < 0.001) and poorly cohesive type (P = 0.002). The 3-year DFS was 69.4%. Low Ki-67 LI level (≤25%) was related with low DFS (47.6% vs. 72.6%, P = 0.016). T stage (P < 0.001), N stage (P = 0.006), lymphovascular invasion (P = 0.010), and neuronal invasion (P = 0.001) also affected the DFS. In addition, T stage (P = 0.03) and Ki-67 LI (P = 0.035) were independent prognostic factors for DFS. In patients treated with adjuvant chemotherapy (n = 239, 93.4%), low Ki-67 (≤25%) was a poor prognostic factor for DFS (P = 0.013). CONCLUSION: Low Ki-67 LI predicts high rate of progression and low DFS of stomach cancer. Ki-67 LI can be a predictive marker in resected stomach cancer treated with surgery and adjuvant chemotherapy.

Maximum standardized uptake value at pre-treatment PET in estimating lung cancer progression after stereotactic body radiotherapy

PURPOSE: This study aimed to identify the feasibility of the maximum standardized uptake value (SUVmax) on baseline 18F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET/CT) as a predictive factor for prognosis in early stage primary lung cancer treated with stereotactic body radiotherapy (SBRT). MATERIALS AND METHODS: Twenty-seven T1-3N0M0 primary lung cancer patients treated with curative SBRT between 2010 and 2018 were retrospectively evaluated. Four patients (14.8%) treated with SBRT to address residual tumor after wedge resection and one patient (3.7%) with local recurrence after resection were included. The SUVmax at baseline PET/CT was assessed to determine its relationship with prognosis after SBRT. Patients were divided into two groups based on maximum SUVmax on pre-treatment FDG PET/CT, estimated by receiver operating characteristic curve. RESULTS: The median follow-up period was 17.7 months (range, 2.3 to 60.0 months). The actuarial 2-year local control, progressionfree survival (PFS), and overall survival were 80.4%, 66.0%, and 78.2%, respectively. With regard to failure patterns, 5 patients exhibited local failure (in-field failure, 18.5%), 1 (3.7%) experienced regional nodal relapse, and other 2 (7.4%) developed distant failure. SUVmax was significantly correlated with progression (p = 0.08, optimal cut-off point SUVmax > 5.1). PFS was significantly influenced by pretreatment SUVmax (SUVmax > 5.1 vs. SUVmax ≤ 5.1; p = 0.012) and T stage (T1 vs. T2-3; p = 0.012). CONCLUSION: SUVmax at pre-treatment FDG PET/CT demonstrated a predictive value for PFS after SBRT for lung cancer.

Comparison of the clinical outcome of frozen-thawed embryo transfer with and without pretreatment with a gonadotropin-releasing hormone agonist

OBJECTIVE: To describe the clinical outcomes of frozen-thawed embryo transfer (FET) with artificial preparation of the endometrium, using a combination of estrogen (E2) and progesterone (P4) with or without a gonadotropin-releasing hormone agonist (GnRHa), and the modified natural cycle (MNC) with human chorionic gonadotropin (hCG) trigger. METHODS: In this retrospective study, we evaluated 187 patients during 3 years (February 2012–April 2015). The patients were allocated to the following treatment groups: group A, comprising 113 patients (181 cycles) who received GnRHa+E2+P4; group B, comprising 49 patients (88 cycles) who received E2+P4; and group C, comprising 25 patients (42 cycles) who received hCG+P4. The inclusion criteria were regular menstrual cycles (length 24–35 days) and age 21–45 years. RESULTS: The primary outcome of the study — implantation rate (IR) per embryo transferred — was not statistically different among the 3 groups. Similar results were found for the IRs with fetal heartbeat per embryo transferred (68/181 [37.6%] in group A vs. 22/88 [25.0%] in group B vs. 14/42 [33.3%] in group C) and for the live birth rates (LBRs) per embryo transferred (56/181 [30.9%] in group A vs. 18/88 [20.5%] in group B vs. 11/42 [26.2%] in group C). CONCLUSION: Although the pregnancy outcomes were better in the hormone therapy with GnRHa group, hormone therapy FET with GnRHa for pituitary suppression did not result in significantly improved IRs and LBRs when compared with hormone therapy FET without GnRHa or MNC FET.

Life-Threatening Thrombocytopenia Following Intravenous Contrast Media Infusion

Radiocontrast media-induced acute severe thrombocytopenia is a very rare complication and potentially life-threatening. Here, we report the case of a 63-year-old male patient with severe acute thrombocytopenia following first exposure to intravenous non-ionic contrast media without immediate allergic reactions. His platelet count dropped from 107000/µL to 2000/µL after six hours of radiocontrast infusion. After administration of corticosteroid and transfusion of platelet concentrates, the platelet count returned gradually to normal within 5 days. To the best of our knowledge, non-ionic contrast media-induced isolated acute severe thrombocytopenia following no signs or symptoms of immediate allergic reaction has never been described.

Relationship between Job Stress and Compassion Satisfaction, Compassion Fatigue, Burnout for Nurses in Children's Hospital

PURPOSE: Nurses experience burnout related to various factors. For this descriptive research job stress, compassion satisfaction, and compassion fatigue were examined as to their relationship to burnout in nurses from children's hospital. METHODS: The participants were 305 nurses working in children's hospital. Self-report questionnaires were used to measure job stress, compassion satisfaction, compassion fatigue and burnout. RESULTS: Nurses in children's hospital experienced a greater than moderate degree of job stress, compassion satisfaction, compassion fatigue and burnout, whereas differences existed according to general characteristics. Job stress, compassion fatigue and burnout showed a significant positive correlation and results of compassion fatigue and burnout were similar. Also, job stress, compassion satisfaction and compassion fatigue were associated with burnout in nurses working in children's hospital. CONCLUSION: Findings indicate that as longer work experience is accompanied by higher job stress and burnout, it is necessary to develop intervention programs to reduce burnout among career nurses exposed to greater job stress in children's hospital.

Lymphovascular invasion as a negative prognostic factor for triple-negative breast cancer after surgery

PURPOSE: This study aimed to evaluate the prognostic effects of lymphovascular invasion (LVI) in triple-negative breast cancer (TNBC) patients who underwent surgical resection. MATERIALS AND METHODS: A total of 63 non-metastatic TNBC patients who underwent surgical resection were retrospectively investigated from 2007 to 2016 in Inje University Busan Paik Hospital. Pathological tests revealed that 12 patients (19.0%) had LVI. Approximately 61.9% (n = 39) of the patients’ samples stained positive for p53. Additional chemotherapy and radiotherapy (RT) were performed in 53 (84.1%) and 47 (74.6%) patients, respectively. RESULTS: The median follow-up period was 39.5 months (range, 5.9 to 123.0 months). The pathological T stage (p = 0.008), N stage (p = 0.014), and p53 positivity (p = 0.044) were associated with LVI. Overall, the 3-year disease-free survival (DFS) rate and overall survival (OS) rate were 85.4% and 90.2%, respectively. Ten patients (15.9%) experienced relapse. LVI (n = 12) was associated with relapses (p = 0.016). p53 positivity was correlated with poor DFS (p = 0.048). Furthermore, LVI was related to poor DFS (p = 0.011) and OS (p = 0.001) and considered as an independent prognostic factor for DFS (p = 0.039). The 3-year DFS of patients with LVI (n = 12) was only 58.3%. Adjuvant RT minimized the negative prognostic effect of LVI on DFS (p = 0.068 [with RT] vs. p = 0.011 [without RT]). CONCLUSION: LVI was related to the detrimental effects of disease progression and survival of TNBC patients. Thus, a more effective treatment strategy is needed for TNBC patients with LVI.

Clinical Characteristics of Status Epilepticus as the First Presentation of Fever Related Seizure in Children / 대한소아신경학회지

PURPOSE: Status epilepticus (SE) is a neurological emergency disease because it can cause severe neurological complications. In order to avoid these complications, early diagnosis and appropriate treatment is required in SE. Febrile SE is the most common form of SE in children. We investigated the clinical characteristics and prognosis of patients with febrile SE is the first seizure of life. METHODS: We retrospectively reviewed the medical records of patients with SE as the first presentation of fever related seizures who visited our hospital from July 1996 to January 2013. Clinicodemographic characteristics, brain magnetic resonance imaging (MRI) and electro-encephalogram (EEG) findings, and anti-epileptic treatment were compared between two groups divided according to prognosis; fair vs. poor prognosis. RESULTS: Seventy-eight children were included in this study. The median age of the subjects was 20.0 months (interquartile range [IQR] 12.0–42.8). Fifty-one subjects had a fair prognosis, while twenty-seven subjects had a poor prognosis. Statistically significant differences was observed in the duration of seizure (P=0.043), the number of antiepileptic drugs (P<0.001) and the presence of abnormal EEG findings (P<0.001). CONCLUSION: Children with febrile SE as the first seizure of life are likely to reveal a poor prognosis in those whose seizure last longer or are controlled only through high step anti-epileptic drugs. Thus, in order to ensuring a better prognosis for such patients, appropriate treatment is needed to stop the seizure.

Three-dimensional (3D) printing of mouse primary hepatocytes to generate 3D hepatic structure

PURPOSE: The major problem in producing artificial livers is that primary hepatocytes cannot be cultured for many days. Recently, 3-dimensional (3D) printing technology draws attention and this technology regarded as a useful tool for current cell biology. By using the 3D bio-printing, these problems can be resolved. METHODS: To generate 3D bio-printed structures (25 mm × 25 mm), cells-alginate constructs were fabricated by 3D bio-printing system. Mouse primary hepatocytes were isolated from the livers of 6–8 weeks old mice by a 2-step collagenase method. Samples of 4 × 10⁷ hepatocytes with 80%–90% viability were printed with 3% alginate solution, and cultured with well-defined culture medium for primary hepatocytes. To confirm functional ability of hepatocytes cultured on 3D alginate scaffold, we conducted quantitative real-time polymerase chain reaction and immunofluorescence with hepatic marker genes. RESULTS: Isolated primary hepatocytes were printed with alginate. The 3D printed hepatocytes remained alive for 14 days. Gene expression levels of Albumin, HNF-4α and Foxa3 were gradually increased in the 3D structures. Immunofluorescence analysis showed that the primary hepatocytes produced hepatic-specific proteins over the same period of time. CONCLUSION: Our research indicates that 3D bio-printing technique can be used for long-term culture of primary hepatocytes. It can therefore be used for drug screening and as a potential method of producing artificial livers.

A Comparative Analysis of the Official Crime Statistics of People with Mental Illness and Public Perception / 대한정신분열병학회지

OBJECTIVES: There exists only a limited number of studies on the people's perception of criminality of people with mental illness. People's fear of the dangerousness of people with mental illness may have been exaggerated, and yet there are few studies exploring whether people's view of the crime rates of mentally ill people are correct or not. METHODS: A total of 363 college students participated in the present study. The present study first compared the official statistics of the crime rates of the mentally ill with the public perception. In addition, the rates of mentally ill offenders with previous convictions across crime types are compared with people's perception. RESULTS: Compared to the official crime statistics, people's estimates of crime rates of mentally ill offenders were grossly exaggerated across crime types, including fraud, assault, rape, robbery, theft, homicide, and arson. Furthermore, the rates of mentally ill offenders with previous convictions across all crime types on the official crime statistics were actually higher than people's estimates. CONCLUSION: The present findings reveal that people's view of the crime rates of mentally ill people is considerably distorted. There is an urgent need to clarify these prejudices in order to help people with mentally illness adjust to society and to prevent them from committing crime.

Attitudes Toward the Dangerousness of the Mentally Ill / 대한정신분열병학회지

OBJECTIVES: The aim of the present study is to investigate the attitudes of people toward the dangerousness of the mentally ill. The study eventually aims to contribute to developing strategies for reducing prejudice against people with mental illness. METHODS: A total of 358 college students participated in the study. A 6-item questionnaire was administered to examine attitudes toward the dangerousness of the mentally ill, with Belief in a Just World Scale. Then, attitudes toward crime committed by patients with different types of mental illness (Schizophrenia, Depressive disorder, Bipolar disorder, Panic disorder, PTSD, Dementia, ADHD, and Mental Retardation) were assessed. RESULTS: People strongly believed that most of the crime by the mentally ill was committed on the spur of the moment, and that crime of the mentally ill had recently increased. Furthermore, there was a positive correlation between prejudice against the dangerousness of the mentally ill and just-world beliefs. In addition, patients with Schizophrenia were assessed to be the most dangerous out of 8 different types of mental illness. CONCLUSION: There exists considerable prejudices against the dangerousness of the mentally ill, especially those with schizophrenia. The present findings emphasize the urgent need to clarify misunderstandings regarding the dangerousness of the mentally ill.

Effects of Maternal-Child Health Education Program for Nurses in Tigray, Ethiopia on Their Knowledge and Confidence

PURPOSE: The purpose of this study was to identify effects of a maternal-child health education program for nurses in Tigray, Ethiopia. METHODS: One-group pre-posttest design was used. The maternal-child health (MCH) education program was given to nurses from 5 health centers in Tigray, Ethiopia. Knowledge and confidence levels were measured before and after each education session. Data were analyzed using paired t-test. RESULTS: The topics of the 5 educational sessions were family planning, antenatal care, care during labor, immunization, and integrated management of neonate, and child illness. Knowledge scores (1st: Z=3.931, p=.001; 2nd: Z=6.189, p<.001; 3rd: Z=5.658, .001, 4th: Z=8.734, .001, 5th: Z=14.167, .001) and confidence levels (1st: Z=8.467, .001; 2nd: Z=4.183, .001; 3rd: Z=4.992, .001) improved significantly. CONCLUSION: The findings of this study imply that the MCH education program for nurses was effective in developing the maternal-child health capacity of the nurses in Tigray, Ethiopia.

The Relationship between Childhood Trauma Experience and Parent-Adolescent Reports of Problem Behavior : Comparison of Delinquent and General Adolescent

OBJECTIVES: The aim of this study was to investigate correlation of childhood trauma experience and parent-adolescents' assessment reports on problem behavior through comparison of delinquent and general adolescents. METHODS: First, delinquent adolescents and general adolescents were asked to complete the Childhood Trauma Questionnaire (CTQ). Then, 71 pairs of delinq uent adolescents and their parents and 133 pairs of general adolescents and their parents were asked to complete the Korean Youth Self-Report (K-YSR) and the Korean Child Behavior Checklist (K-CBCL). Finally, responses from 410 people were used for the analysis. RESULTS: First, childhood trauma experience score was significantly higher for delinquent adolescents, compared to general adolescents. Second, t-test showed a greater difference between K-YRS and K-CBCL for general adolescents than for delinquent adolescents. Third, in the case of delinquent adolescents, the correlation analysis of K-YSR filled out by adolescents and K-CBCL filled out by parents showed significant correlation in certain areas, including social immaturity, delinquent behaviors, internalization issues, and externalization issues. On the other hand, the correlation analysis of K-YSR and K-CBCL of general adolescents showed significant correlation in all sub-categories. Fourth, the correlation analysis of delinquent adolescents' CTQ and K-YSR showed minimal yet significant correlation in social adaptation, withdrawing, depression/anxiety, and delinquent/aggressive behaviors, however, no correlation was observed between CTQ and K-CBCL. The correlation analysis of general adolescents' CTQ and K-YSR, and CTQ and K-CBCL showed significant correlation in all sub-categories, although the degree of correlation varied. CONCLUSION: Delinquent adolescents had more childhood traumatic experiences. However, general adolescents' childhood traumatic experiences showed minimal yet significant correlation with various adaptation indicators and their parents responded in a similar way, indicating that general adolescents with childhood traumatic experiences need close care and attention even if they have not shown prominent delinquent behaviors.