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Context: Periprosthetic joint infections (PJIs) are a rare but highly destructive complication after total knee arthroplasty (TKA). Nursing plays an important role in preventing postoperative infections in patients, but different nursing modes have different rates of postoperative infections. Objective: The study intended to explore the effects of "encouragement, education, exercise, employment, and evaluation" (5E) rehabilitation nursing on the prevention of periprosthetic joint infections (PJIs) after TKA. Design: The research team conducted a randomized controlled trial. Setting: The study took place at the First People's Hospital of Huzhou in Huzhou, China. Participants: Participants were 80 TKA postoperative patients at the hospital between January 2023 and July 2023. Interventions: The research randomly divided participants into two groups: (1) the intervention group, the 5E group, with 40 participants and (2) the control group, with 40 participants. The control group received routine nursing, while the 5E group received 5E rehabilitation nursing. Outcome Measures: The research team examined: (1) the prosthesis' location; (2) wound healing; (3) score for knee joint function, using the Berg Balance Scale (BBS) and the Hospital Score for Special Surgery (HSS) of the knee joint; (4) postoperative level of inflammatory factors, using levels of C-reactive protein (CRP); (5) infection occurrence; (6) length of hospital stay; and (7) nursing satisfaction. Results: The prosthesis was well positioned in both groups. Compared to the control group, the 5E group's: (1) wound healing was significantly better (P < .001); (2) at 7 days after surgery, HSS score (P < .001) and BBS score (P < .001) were significantly higher; (3) C-reactive protein (CRP) levels were significantly lower (P < .001); (4) at 90 days after surgery, incidence of postoperative periprosthetic joint infection (PJI) was significantly lower (P < .001); (5) length of hospital stay was significantly shorter (P = .0013); and (7) nursing satisfaction was significantly higher (P = .0338). Conclusions: The 5E rehabilitation nursing for patients after TKA was helpful in promoting wound recovery, supporting the recovery of knee-joint function, reducing the incidence of PJIs, shortening the length of hospital stay, and improving patients' nursing satisfaction.
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Since April 2022, waves of SARS-CoV-2 Omicron variant cases have surfaced in Taiwan and spread throughout the island. Using high-throughput sequencing of the SARS-CoV-2 genome, we analyzed 2,405 PCR-positive swab samples from 2,339 persons and identified the Omicron BA.2.3.7 variant as a major lineage within recent community outbreaks in Taiwan.
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COVID-19 , Humanos , Taiwán/epidemiología , COVID-19/epidemiología , SARS-CoV-2/genética , Brotes de EnfermedadesRESUMEN
OBJECTIVES: To investigate the spiritual care needs and their attributes among Chinese elders hospitalized for severe chronic heart failure (CHF) based on the Kano model, in order to provide a reference for improving the quality and satisfaction of spiritual care. METHODS: An observational design was implemented, and the STROBE Checklist was used to ensure quality reporting of the study. The demographic characteristics questionnaire, the Nurse Spiritual Therapeutics Scale, and the Kano model-based Nurse Spiritual Therapeutics Attributes Scale were used. A convenience sample of 451 patients were selected from 2 hospitals. Descriptive statistics, and Kano model were used to analyze the data. RESULTS: The total score of spiritual care needs was 29.95 ± 7.51. Among the 12 items, 3 items were attractive attributes, all of which were located in Reserving Zone IV; 5 items were one-dimensional attributes, of which 3 were located in Predominance Zone I and 2 were located in Improving Zone II; 2 items were must-be attributes, all of which were located in Improving Zone II; and 2 items were indifference attributes, all of which were located in Secondary Improving Zone III. SIGNIFICANCE OF RESULTS: The spiritual care needs among Chinese elders hospitalized for severe CHF were moderate. The must-be and one-dimensional attributes mainly focus on "creating a good atmosphere" and "sharing self-perception" dimensions, while attractive attributes mainly focus on "sharing self-perception" and "helping thinking" dimensions. It is suggested that hospital authority should develop and innovate attractive attributes on the basis of maintaining and perfecting must-be and one-dimensional attributes, and objectively analyze and optimize indifference attributes.
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Insuficiencia Cardíaca , Espiritualidad , Anciano , Humanos , Enfermedad Crónica , Pueblos del Este de Asia , Encuestas y Cuestionarios , HospitalizaciónRESUMEN
Anthracycline-induced cardiomyopathy has been noted as a non-neglectable issue in the field of clinical oncology. Remarkable progress has been achieved in searching for inherited susceptible genetic deficits underlying anthracycline cardiotoxicity in the past several years. In this case report, we present the preliminary results of a genetic study in a young male patient who was treated with standard dose anthracycline-based chemotherapy for his acute myeloid leukemia and attacked by acute congestive heart failure after just two courses of therapy. After a survey of 76 target genes, an in-frame deletion of the titin gene was recognized as the most possible genetic defect responsible for his cardiomyopathy caused by anthracycline. This defect proved to pass down from the patient's mother and did not exist in seven unrelated chemotherapy-treated cancer patients without chemotherapy-induced cardiomyopathy and four other healthy volunteer DNA donors.
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Antraciclinas , Cardiomiopatías , Antraciclinas/efectos adversos , Antibióticos Antineoplásicos/efectos adversos , Cardiomiopatías/inducido químicamente , Cardiomiopatías/complicaciones , Cardiomiopatías/genética , Cardiotoxicidad/etiología , Causalidad , Conectina/genética , Humanos , MasculinoRESUMEN
Cyclobalanopsis gilva, a valuable timber species in China, holds significant importance for understanding the constraints imposed by climate change on the dynamic geographic distribution of tree species. This study utilized the MaxEnt maximum entropy model to reconstruct the migratory dynamics of C. gilva geographical distribution since the Last Glacial Maximum. The objective was to comprehend the restrictive mechanisms of environmental factors on its potential geographical distribution, aiming to provide insights for mid-to-long-term afforestation planning of C. gilva. The optimized MaxEnt model exhibited a significantly high predictive accuracy, with an average AUC value of 0.949 ± 0.004 for the modern suitable habitat model of C. gilva. The total suitable habitat area for C. gilva in contemporary times was 143.05 × 104 km2, with a highly suitable habitat area of 3.14 × 104 km2. The contemporary suitable habitat was primarily located in the southeastern regions of China, while the highly suitable habitat was concentrated in eastern Fujian and central-eastern Taiwan. Bioclimatic variables such as mean diurnal range (Bio2), min temperature of coldest month (Bio6), precipitation of driest quarter (Bio17), and precipitation of driest month (Bio14) predominantly influenced the modern geographic distribution pattern of C. gilva, with temperature factors playing a leading role. With global climate warming, there is a risk of fragmentation or even loss of suitable habitat for C. gilva by 2050 and 2090. Therefore, the findings of this study can significantly contribute to initiating a habitat conservation campaign for this species.
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Bacillus halotolerans F29-3, a Gram-positive bacterium, is recognized for its synthesis of the antifungal substance fengycin. This announcement introduces the complete genome sequence and provides insights into the genetic products related to antibiotic secondary metabolites, including non-ribosomal peptide synthetase (NRPS), polyketide synthase (PKS), and NRPS/PKS combination.
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BACKGROUND: Healthcare-associated COVID-19 infections caused by SARS-CoV-2 have increased morbidity and mortality. Hospitals and skilled nursing facilities (SNFs) have been challenged by infection control and management. METHODS: This case study presents an outbreak investigation in a COVID-19-designated hospital and a hospital-based SNF. Real-time polymerase chain reaction (PCR) and other studies were performed on samples obtained from SNF residents, hospital patients, and healthcare workers (HCWs). The results of the laboratory tests and field epidemiological data were analyzed. Genome sequencing and phylogenetic analysis of SARS-CoV-2 were performed to identify the associations between cases. The tracer gas was released and recorded by a thermal imaging camera to investigate the spatial relations within clusters. RESULTS: During the outbreak, 29 COVID-19 infections in 3 clusters were identified through hospital-wide, risk-guided, and symptom-driven PCR tests. This included 12 HCWs, 5 patients, and 12 SNF residents who had been hospitalized for at least 14 days. Serology tests did not identify any cases among the PCR-negative individuals. The phylogenetic analysis revealed that viral strains from the 3 clusters shared a common mutation of G3994T and were phylogenetically related, which suggested that this outbreak had a common source rather than multiple introductions from the community. Linked cases exhibited vertical spatial distribution, and the sulfur hexafluoride release test confirmed a potential airborne transmission. CONCLUSIONS: This report addressed the advantage of a multi-disciplinary team in outbreak investigation. Identifying an airborne transmission within an outbreak highlighted the importance of regular maintenance of ventilation systems.
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COVID-19 , Infección Hospitalaria , Humanos , COVID-19/epidemiología , Filogenia , SARS-CoV-2/genética , Aerosoles y Gotitas Respiratorias , Brotes de Enfermedades , Infección Hospitalaria/epidemiología , Hospitales , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
The clinical characteristics of malignant melanoma are highly variable between patient populations of different ethnicities. To explore the underlining genetic variations, we reviewed the clinical data of 242 malignant melanoma cases from Taiwan and among them submitted formalin-fixed paraffin-embedded tissue samples from 37 patients for whole-exome sequencing to identify the mutational signatures, tumor mutation burden and specific gene mutations. The genomic profiles and clinical outcomes were compared with the information derived from the publicly available TCGA and TGEN databases. Mutation signature 12 was the dominant signature in Taiwanese patients and represented approximately 45% of the mutation signatures observed. In contrast, mutation signature 7 was the most prominent among cases available in the TCGA database. Common gene mutations found in the TCGA melanoma dataset were not frequently found in melanomas from Taiwanese patients. There were a significant number of specific gene mutations that exclusively occurred in acral subtype but not in non-acral subtype melanomas, and vice versa. While certain common mutations form a shared core of genetic features, there appear to be specific genetic pathways that are involved in the occurrence of melanomas that grow in non-UV-exposed areas. Our findings have shed light on the tumorigenesis pathways involved in malignant melanoma.
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Melanoma , Neoplasias Cutáneas , Humanos , Secuenciación del Exoma , Melanoma/patología , Neoplasias Cutáneas/patología , Mutación , Genómica , Melanoma Cutáneo MalignoRESUMEN
BACKGROUND: Targeting TNFα is beneficial in many autoimmune and inflammatory diseases, including rheumatoid arthritis. However, the response to each of the existing TNFα inhibitors (TNFis) can be patient- and/or disease-dependent. In addition, TNFis can induce the production of type 1 interferons (IFNs), which contribute to their non-infection side effects, such as pustular psoriasis. Thus far, the molecular mechanisms mediating the drug-specific effects of TNFis and their induction of type 1 IFNs are not fully understood. METHODS: Peripheral blood mononuclear cells (PBMCs) were collected from healthy donors and stimulated in vitro with anti-CD3 and anti-CD28 in the absence or presence of adalimumab, etanercept, or certolizumab. Th cells were isolated from the stimulated PBMCs, and their RNA was subjected to RNA-seq and quantitative polymerase chain reaction. RESULTS: Adalimumab and etanercept, which contain Fc, but not certolizumab, which does not contain Fc, inhibited the expression of several effector cytokines by Th cells within anti-CD3/anti-CD28-stimulated PBMCs. Transcriptomic analyses further showed that adalimumab, but not certolizumab, reciprocally induced type 1 IFN signals and the expression of CD96 and SIRPG in Th cells. The unique effects of adalimumab were not due to preferential neutralization of soluble TNFα but instead were mediated by several distinct mechanisms independent or dependent of Fc-facilitated physical interaction between Th cells and CD14+ monocytes. CONCLUSIONS: TNFis can have drug-specific effects on the transcriptional profile of Th cells.
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Linfocitos T Colaboradores-Inductores/efectos de los fármacos , Transcriptoma , Inhibidores del Factor de Necrosis Tumoral/farmacología , Adalimumab/farmacología , Anticuerpos Monoclonales Humanizados , Certolizumab Pegol , Etanercept , Humanos , Leucocitos MononuclearesRESUMEN
Diagnosis of a 9-month-old boy brought to our genetics clinic with chief complaints of developmental delay (DD), failure to thrive, microcephaly, trunk hypotonia and hypertonia of the extremities. Multiple congenital defects but no significant syndromes or diseases were impressed. The chromosomal analysis and array comparative genomic hybridization (aCGH) revealed no significant pathogenic changes. Whole Genome Sequencing (WGS) identified a p.Glu1139fs de novo mutation of the KAT6A gene. The patient's phenotype was consistent clinically with Arboleda-Tham syndrome (ARTHS). Reviewing the literature showed that this is the first patient in Taiwan detected by WGS and that it involves a novel mutation. Comparing the highly variable clinical presentations of this syndrome with our patient, this boy's features and severe developmental defects seem to be due to a late-truncating mutation at the carboxyl end of the KAT6A protein. Our study demonstrates the power of WGS to confirm a diagnosis within 4 weeks for this rare condition.
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X-linked agammaglobulinemia (XLA), caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, is rarely reported in patients with recurrent hemophagocytic lymphohistiocytosis (HLH). This mutation leads to significantly reduced numbers of circulatory B cells and serum immunoglobulins in patients. Therefore, they exhibit repetitive bacterial infections since infancy, and immunoglobulin (Ig) replacement therapy is the primary treatment. HLH is a life-threatening condition with manifestations of non-remitting fever, hepatosplenomegaly, cytopenias, coagulopathy, lipid disorder, and multiple organ failure. It is caused by the immune dysregulation between cytotoxic T cells, NK cells, and histiocytes. The treatment is based on HLH-2004 protocol including immunotherapy, chemotherapy, supportive therapy, and stem cell transplantation. However, as we know more about the classification and pathophysiology of HLH, the treatment is modified. T-cell-directed immunotherapy is effective in patients with primary HLH, and strong immunosuppression is contraindicated in patients with severe ongoing infections or some primary immunodeficiency diseases (PIDs). Here, we report the case of a 7-year-old boy who presented with ecthyma gangrenosum and several episodes of pyogenic infections during childhood. At the age of 5 years, he exhibited cyclic HLH every 2-3 months. The remission of HLH episodes finally achieved after he received monthly Ig replacement therapy (400 mg/kg) at the 4th HLH. However, transient elevation of IgM was incidentally discovered after 6 cycles of monthly Ig replacement therapy. IgM-secreting multiple myeloma, Waldenström's macroglobulinemia, and lymphoma were excluded. The IgM levels then declined and returned to the normal range within a year. The patient and his parents received whole-genome sequencing analysis. It revealed a novel hemizygous c.1632-1G>A mutation in the BTK gene and XLA was diagnosed. XLA exhibits a spectrum of clinical and immunological presentations in patients. The identification of the mutation in the BTK gene contribute to an accurate diagnosis. Ig replacement therapy is the primary treatment for HLH in patients with XLA.
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Agammaglobulinemia Tirosina Quinasa/genética , Agammaglobulinemia/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Linfohistiocitosis Hemofagocítica/genética , Niño , Humanos , Masculino , MutaciónRESUMEN
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal. Candidate genetic approach targeted to genes involved in PIDs with inflammatory bowel disease (IBD)-like manifestation was unrevealing. Whole-genome sequencing revealed novel heterozygous mutations Glu75Lys and nucleotide 520-521 CT deletion in the tetratricopeptide repeat domain 7A (TTC7A) gene. A Medline search identified 49 patients with TTC7A mutations, of whom 20 survived. Their phenotypes included both multiple intestinal atresia (MIA) and combined T and/or B immunodeficiency (CID) in 16, both IBD and CID in 14, isolated MIA in 8, MIA, IBD, and CID complex in 8, and isolated IBD in 3. Of these 98 mutant alleles over-through the coding region clustering on exon 2 (40 alleles), exon 7 (12 alleles), and exon 20 (10 alleles), 2 common hotspot mutations were c.211 G>A (p.E71K in exon 2) in 26 alleles and AAGT deletion in exon 7 (+3) in 10 alleles. Kaplan-Meier analysis showed that those with biallelic missense mutations (p = 0.0168), unaffected tetratricopeptide repeat domains (p = 0.0311), and developing autoimmune disorders (p = 0.001) had a relatively better prognosis. Hematopoietic stem cell transplantation (HSCT) restored immunity and seemed to decrease the frequency of infections; however, refractory diarrhea persisted. Clinical improvement was reported upon intestinal and liver transplantation in a child with CID and MIA of unknown genetic etiology. In conclusion, patients with TTC7A mutations presenting with the very early onset of refractory diarrhea had limit improvement by HSCT or/and tailored immunosuppressive therapy in the absence of suitable intestine donors. We suggest that MIA-CID-IBD disorder caused by TTC7A mutations should also be included in the PID classification of "immunodeficiencies affecting cellular and humoral immunity" to allow for prompt recognition and optimal treatment.
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Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has been mapped earlier to 5p13.1-q11.2 and two pathogenic missense mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta (OSMRbeta), were reported. Here, we investigated 29 Taiwanese pedigrees with PCA and found that 10 had heterozygous missense mutations in OSMR: p.D647V (one family), p.P694L (six families), and p.K697T (three families). The mutation p.P694L was associated with the same haplotype in five of six families and also detected in two sporadic cases of PCA. Of the other 19 pedigrees that lacked OSMR pathology, 8 mapped to the same locus on chromosome 5, which also contains the genes for 3 other interleukin-6 family cytokine receptors, including interleukin-31 receptor A (IL31RA), which can form a heterodimeric receptor with OSMRbeta through interleukin-31 signaling. In one family, we identified a point mutation in the IL31RA gene, c.1562C>T that results in a missense mutation, p.S521F, which is also sited within a fibronectin type III-like repeat domain as observed in the OSMR mutations. PCA is a genetically heterogeneous disorder but our study shows that it can be caused by mutations in two biologically associated cytokine receptor genes located on chromosome 5. The identification of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiology.