Survey of patient satisfaction with genetic counseling services in Korea.

Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine. Therefore, it is important for medical geneticists and genetic counselors to collaboratively provide genetic counseling services. This study aimed to evaluate the perception and satisfaction of patients with rare genetic diseases and their families regarding genetic counseling services provided by a genetics team at the medical genetics center of a tertiary general hospital for rare genetic diseases. From April to November 2021, a survey was conducted with 203 individuals, including 111 and 92 individuals in the patient and family groups, respectively. Overall, 164 individuals (80.8%) responded that they were aware of genetic counseling services, and 135 individuals (66.5%) responded that they were aware of the role of genetic counselors. Patients and their families wanted to receive information about the following from genetic counseling: clinical manifestation and prognosis of the diagnosed disease (78.8%), treatment and management of the disease (60.6%), risk of recurrence within the family (55.7%), treatment options and alternatives for family and prenatal testing, and various support services. The score of satisfaction with genetic counseling services provided by the genetics team was 8.19 ± 1.68 out of 10. Patients with rare genetic diseases and their families were satisfied with genetic counseling services regarding their diseases, test results, and treatment options. Moreover, the patients could receive psychosocial support and referrals to other medical service providers and support services. As a genetic team approach, collaboration between medical geneticists and certified genetic counselors would be useful in providing information and in diagnosing, treating, and managing patients.

Genetic Databases and Gene Editing Tools for Enhancing Crop Resistance against Abiotic Stress.

Abiotic stresses extensively reduce agricultural crop production globally. Traditional breeding technology has been the fundamental approach used to cope with abiotic stresses. The development of gene editing technology for modifying genes responsible for the stresses and the related genetic networks has established the foundation for sustainable agriculture against environmental stress. Integrated approaches based on functional genomics and transcriptomics are now expanding the opportunities to elucidate the molecular mechanisms underlying abiotic stress responses. This review summarizes some of the features and weblinks of plant genome databases related to abiotic stress genes utilized for improving crops. The gene-editing tool based on clustered, regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) has revolutionized stress tolerance research due to its simplicity, versatility, adaptability, flexibility, and broader applications. However, off-target and low cleavage efficiency hinder the successful application of CRISPR/Cas systems. Computational tools have been developed for designing highly competent gRNA with better cleavage efficiency. This powerful genome editing tool offers tremendous crop improvement opportunities, overcoming conventional breeding techniques' shortcomings. Furthermore, we also discuss the mechanistic insights of the CRISPR/Cas9-based genome editing technology. This review focused on the current advances in understanding plant species' abiotic stress response mechanism and applying the CRISPR/Cas system genome editing technology to develop crop resilience against drought, salinity, temperature, heavy metals, and herbicides.

Integrated Molecular and Bioinformatics Approaches for Disease-Related Genes in Plants.

Modern plant pathology relies on bioinformatics approaches to create novel plant disease diagnostic tools. In recent years, a significant amount of biological data has been generated due to rapid developments in genomics and molecular biology techniques. The progress in the sequencing of agriculturally important crops has made it possible to develop a better understanding of plant-pathogen interactions and plant resistance. The availability of host-pathogen genome data offers effective assistance in retrieving, annotating, analyzing, and identifying the functional aspects for characterization at the gene and genome levels. Physical mapping facilitates the identification and isolation of several candidate resistance (R) genes from diverse plant species. A large number of genetic variations, such as disease-causing mutations in the genome, have been identified and characterized using bioinformatics tools, and these desirable mutations were exploited to develop disease resistance. Moreover, crop genome editing tools, namely the CRISPR (clustered regulatory interspaced short palindromic repeats)/Cas9 (CRISPR-associated) system, offer novel and efficient strategies for developing durable resistance. This review paper describes some aspects concerning the databases, tools, and techniques used to characterize resistance (R) genes for plant disease management.

Cranioplasty Using Autologous Bone versus Porous Polyethylene versus Custom-Made Titanium Mesh : A Retrospective Review of 108 Patients.

OBJECTIVE: The purpose of this study was to compare the cosmetic outcome and complications after cranioplasty (CP) due to three different implant materials, and analyze the mean implant survival and cumulative survival rate based on these results. METHODS: We reviewed 108 patients retrospectively who underwent CP between January 2014 and November 2016. Autologous bone (AB; 45 patients) and synthetic materials with porous polyethylene (PP; 32 patients) and custom-made 3-dimensional printed titanium mesh (CT; 31 patients) were used as implants. RESULTS: Regardless of implanted materials, more than 89.8% of the CP patients were satisfied with the cosmetic outcome. No statistically significant difference was observed among the three groups. The overall postoperative complication rates of each group were 31.1% in the AB group, 15.6% in the PP group and 3.2% in the CT group. The CT group showed lower complication rates compared with AB and PP groups (χ2-test : AB vs. PP, p=0.34; AB vs. CT, p=0.00; PP vs. CT, p=0.03). The AB and PP groups demonstrated a higher post-CP infection rate (11.1% and 6.3%) than the CT group (3.2%). However, no significant difference in the incidence of post-CP infection was observed among the three groups. The PP and CT groups demonstrated a higher mean implant survival time and cumulative survival rate than the AB group at the last follow-up (p<0.05). CONCLUSION: In comparison with AB and PP, cranioplasty with CT shows benefits in terms of lower post-CP complication, less intraoperative bleeding loss, shorter operation time and in-hospital stay. The PP and CT groups showed higher implant survival time and cumulative survival rate compared with the AB group.

Compare the Intracranial Pressure Trend after the Decompressive Craniectomy between Massive Intracerebral Hemorrhagic and Major Ischemic Stroke Patients.

OBJECTIVE: Massive intracerebral hemorrhage (ICH) and major infarction (MI) are devastating cerebral vascular diseases. Decompression craniectomy (DC) is a common treatment approach for these diseases and acceptable clinical results have been reported. Author experienced the postoperative intracranaial pressure (ICP) trend is somewhat different between the ICH and MI patients. In this study, we compare the ICP trend following DC and evaluate the clinical significance. METHODS: One hundred forty-three patients who underwent DC following massive ICH (81 cases) or MI (62 cases) were analyzed retrospectively. The mean age was 56.3±14.3 (median=57, male : female=89 : 54). DC was applied using consistent criteria in both diseases patients; Glasgow coma scale (GCS) score less than 8 and a midline shift more than 6 mm on brain computed tomography. In all patients, ventricular puncture was done before the DC and ICP trends were monitored during and after the surgery. Outcome comparisons included the ictus to operation time (OP-time), postoperative ICP trend, favorable outcomes and mortality. RESULTS: Initial GCS (p=0.364) and initial ventricular ICP (p=0.783) were similar among the ICH and MI patients. The postoperative ICP of ICH patients were drop rapidly and maintained within physiological range if greater than 80% of the hematoma was removed. While in MI patients, the postoperative ICP were not drop rapidly and maintained above the physiologic range (MI=18.8 vs. ICH=13.6 mmHg, p=0.000). The OP-times were faster in ICH patients (ICH=7.3 vs. MI=40.9 hours, p=0.000) and the mortality rate was higher in MI patients (MI=37.1% vs. ICH=17.3%, p=0.007). CONCLUSION: The results of this study suggest that if greater than 80% of the hematoma was removed in ICH patients, the postoperative ICP rarely over the physiologic range. But in MI patients, the postoperative ICP was above the physiologic range for several days after the DC. Authors propose that DC is no need for the massive ICH patient if a significant portion of their hematoma is removed. But DC might be essential to improve the MI patients' outcome and timely treatment decision.

Determining the Lower Limit of Cerebral Perfusion Pressure in Patients Undergoing Decompressive Craniectomy Following Traumatic Brain Injury.

BACKGROUND: In patients with severe traumatic brain injury (TBI), maintaining systolic blood pressure >90 mm Hg, intracranial pressure (ICP) <20 mm Hg and cerebral perfusion pressure (CPP) >60-70 mm Hg is recommended to improve clinical outcomes. A recommended CPP value for patients treated with decompressive craniectomy (DC) has not been clearly studied. We aimed to determine whether the targeted CPP can be lowered in patients treated with DC. METHODS: This retrospective analysis included 191 patients who underwent DC for TBI. All patients were monitored for ICP and blood pressure during and after DC. CPP was calculated every 2 hours after DC. Patient outcomes were evaluated 6 months after initial treatment. RESULTS: Mean patient age was 50.8 years (median 52 years), and 79.1% of patients were male. Initial Glasgow Coma Scale score was 6.2 (median 6). Comparing clinical outcome based on postoperative ICP >25 mm Hg and <25 mm Hg, Extended Glasgow Outcome Scale score was 1.4 (>25 mm Hg) and 4.9 (<25 mm Hg) (P = 0.000). In patients maintained at ICP <25 mm Hg, mortality was increased significantly with CPP between 35 mmHg and 30 mm Hg (χ2, P = 0.029 vs. P = 0.062). CONCLUSIONS: Patients with TBI who underwent DC with postoperative ICP maintained <25 mm Hg and CPP >35 mm Hg may have similar mortality as patients with CPP >60-70 mm Hg who did not undergo DC. For patients with TBI who undergo DC, targeted CPP might be lowered to 35 mm Hg if ICP is maintained <25 mm Hg.

Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

PURPOSE: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. METHODS: We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea. RESULTS: Six (0.06%) of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n = 6) and those without BHD (n = 11). Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm) was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001). Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002). Nine (95%) of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD. CONCLUSIONS: Our findings suggest that BHD can be detected if chest CT scans are read in detail.

Association of Specific Immunoglobulin E to Staphylococcal Enterotoxin with Airway Hyperresponsiveness in Asthma Patients.

BACKGROUND: Specific immunoglobulin E (IgE) sensitization to staphylococcal enterotoxin (SE) has been recently considered to be related to allergic disease, including asthma. Despite studies on specific IgE (sIgE) to SE and its relationship to asthma diagnosis and severity, the association of sIgE to SE with airway hyperresponsiveness (AHR) remains unclear. METHODS: We enrolled 81 asthma patients admitted to the Severance Hospital in Korea from March 1, 2013, to February 28, 2015 and retrospectively reviewed the electronic medical records of the enrolled subjects. The serum levels of sIgE to SE (A/B) of all subjects was measured using the ImmunoCAP 250 (Phadia) system with SE-sIgE positive defined as >0.10 kU/mL. RESULTS: The SE-sIgE level was not significantly correlated with asthma severity (forced expiratory volume in 1 second [FEV1], FEV1/forced vital capacity, sputum eosinophils, and serum eosinophils), whereas the SE-sIgE level in patients with positive AHR (mean±standard error of the mean, 0.606±0.273 kU/mL) was significantly higher than that in patients with negative AHR (0.062±0.015 kU/mL, p=0.034). In regression analysis, SE sensitization (sIgE to SE ≥0.010 kU/mL) was a significant risk factor for AHR, after adjustment for age, sex, FEV1, and sputum eosinophils (odds ratio, 7.090; 95% confidence interval, 1.180-42.600; p=0.032). Prevalence of SE sensitization was higher in patients with allergic rhinitis and non-atopic asthma patients, as compared to patients without allergic rhinitis and atopic asthma patients, respectively, but without statistical significance. CONCLUSION: SE sensitization is significantly associated with AHR.