Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Rickets ; prevention & control ; Vitamin D ; therapeutic use

In order to investigate the role of MMP-9 and TIMP-1 in the pathogenesis of systemic sclerosis, the expression of MMP-9 and TIMP-1 was immunohistochemically detected in skin lesions of the patients with diffuse cutaneous systemic sclerosis, skin lesions of the patients with limited cutaneous systemic sclerosis, and skin tissues of normal subjects. The results showed that the expression of MMP-9 in lesions of diffuse cutaneous systemic sclerosis was significantly lower than that of normal skins (P<0.05). However, no significant difference in the level of MMP-9 in the limited cutaneous systemic sclerosis and normal skin was found. Meanwhile, the expression of TIMP-1 in lesions of diffuse cutaneous systemic sclerosis and limited cutaneous systemic sclerosis were significantly higher than that of normal skins (both P<0.05). It was suggested that the expression of MMP-9 and TIMP-1 might play an important role in the development of systemic sclerosis.

Objective To survey the frequency of H deficient phenotype in blood donor population and analyze the serological and genetic characteristics of these individuals.Methods The H deficient phenotype was screened with anti-H monoclonal antibody.The ABO type was screened with serological method and with sequence specific primer polymerase chain reaction(PCR-SSP).FUT1 and FUT2 gene sequences were analyzed with direct sequencing of PCR products and gene cloning products.Result Of 85 390 blood donors,ten individuals were identified to be para-Bombay phenotype.Four h alleles were found in 14 para-Bombay phenotype individuals,h1(nt547-552?ag),h2(nt880-882?tt),h3(nt658c→t),and h_(new-2)(nt328g→a).The FUT1 genotypes of these para-Bombay individuals were h1/h1(6 individuals),h1/h2(7 individuals) and h3/h_(new2)(1 individual),and the frequency of 4 allele were 67.85%(h1),25%(h2),3.57%(h3),and 3.57%(h_(new-2)),respectively.FUT2 gene was analyzed in 12 para-Bombay phenotype individuals,and a mutation of nt357c→t was detected in all FUT2 gene,another mutation of nt716g→a were heterozygous in 5 individuals with h1/h2 genotype.No null FUT2 gene was detected.In serological analysis,all atypical anti-A or anti-B antibody of 14 para-Bombay individuals were inactive at 37℃,7 individuals had active anti-H antibody at 37℃.Conclusion The frequency of H deficient phenotype in Fujian population is about 1:8 500.The h1 and h2 alleles are predominant in Fujian H deficient individuals on h1-Se~(357) and h2-Se~(357,716) haplotype background.

Objective To develop a three-dimensional finite element model of atlantoaxial instability and compare the biomechanical properties of percutaneous anterior transarticular screw (ATS) and posterior transarticular screw (PTS) fixations.Methods A pathologic three-dimensional finite element model of atlantoaxial instability was developed from CT images of the upper cervical spine of volunteers with the aid of softwares,such as Mimics,Freeform,and Ansys.Percutaneous C1-2 ATS and PTS fixation modes were simulated and implanted to the model.Under the preload of 40 N and force moment of 1.5 Nm in anterior flexion,posterior extension,lateral bending,and axial rotation,biomechanical properties of the two fixation modes were compared.Results Under the four loading modalities,both fixation techniques provided maximal inhibition on C1-2 movement.The maximal stress for ATS was larger than that for PTS and maximal displacement for ATS was smaller than that for PTS.Conclusions Both ATS and PTS provide similar outlook and are effective to stabilize the atlantoaxial joint.Biomechanical performance of percutaneous C1-2 ATS is better than that of percutaneous C1-2 PTS.

Objective: To evaluate the quality of tandem mass spectrometry (MSMS) screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021. Methods: The data pertaining to MSMS screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021 were collected from the database created by Zhejiang Provincial Center for Neonatal Disease Screening. The percentage of MSMS screening, percentage of recall of suspected screening-positive infants and incidence of neonatal inherited metabolic diseases were analyzed retrospectively to evaluate the quality of MSMS screening for inherited metabolic diseases. Results: A total of 4 706 916 newborns were screened among 8 297 039 live births by MSMS in Zhejiang Province from 2009 to 2021, and the percentage of MSMS screening increased from 5.48% to 97.54%, with a mean percentage of 56.73%. Of 46 838 suspected screening-positive infants, 45 527 infants were recalled, and the percentage of recall increased from 94.57% to 98.62%, with a mean percentage of 97.20%. A total of 1 038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with an overall incidence rate of 1/4 535, and the incidence rates of amino acid metabolic disorder, fatty acid oxidation metabolic disorder and organic acid metabolic disorder were 1/11 767, 1/13 763 and 1\15 902, respectively. Of the 11 cities in Zhejiang Province, the highest percentage of tandem mass spectrometry screening for inherited metabolic diseases was found in Hangzhou City (83.01%), and the highest percentage of recall of suspected screening-positive infants was se en in Zhoushan City (99.08%). Conclusions A high percentage of MSMS screening for neonatal inherited metabolic diseases was observed in Zhejiang Province from 2009 to 2021; however, there was a region-specific percentage of screening, and the recall of suspected screening-positive infants remains to be improved.

Purpose: The purpose of this study was to explore the experiences of caregivers in long-term care facilities as they implement palliative care. Although palliative care has been available in Taiwan for more than 30 years, it is often provided in hospitals, few models in the long-term care facilities. Methods: Semi-structured interviews using grounded theory methodology and purposive sampling. Two small long-term care facilities that had performed well in palliative care were selected from eastern Taiwan. A total of 12 caregivers participated in in-depth semi-structured face-to-face interviews. Results: Four major stages in the implementation of palliative care were identified: (1) feeling insecure, (2) clarifying challenges, (3) adapting to and overcoming the challenges, and (4) comprehending the meaning of palliative care. The core category of these caregivers as “the guardians at the end of life” reflects the spirit of palliative care. Conclusion This study demonstrates that successful palliative care implementation would benefit from three conditions. First, the institution requires a manager who is enthusiastic about nursing care and who sincerely promotes a palliative care model. Second, the institution should own caregivers who possess personality traits reflective of enthusiasm for excellence, unusual ambition, and a true sense of mission. Third, early in the implementation phase of the hospice program, the institution must have the consistent support of a high-quality hospice team.

Purpose: The purpose of this study was to explore the experiences of caregivers in long-term care facilities as they implement palliative care. Although palliative care has been available in Taiwan for more than 30 years, it is often provided in hospitals, few models in the long-term care facilities. Methods: Semi-structured interviews using grounded theory methodology and purposive sampling. Two small long-term care facilities that had performed well in palliative care were selected from eastern Taiwan. A total of 12 caregivers participated in in-depth semi-structured face-to-face interviews. Results: Four major stages in the implementation of palliative care were identified: (1) feeling insecure, (2) clarifying challenges, (3) adapting to and overcoming the challenges, and (4) comprehending the meaning of palliative care. The core category of these caregivers as “the guardians at the end of life” reflects the spirit of palliative care. Conclusion This study demonstrates that successful palliative care implementation would benefit from three conditions. First, the institution requires a manager who is enthusiastic about nursing care and who sincerely promotes a palliative care model. Second, the institution should own caregivers who possess personality traits reflective of enthusiasm for excellence, unusual ambition, and a true sense of mission. Third, early in the implementation phase of the hospice program, the institution must have the consistent support of a high-quality hospice team.

Cochlear implantation is currently the treatment of choice for children with severe-to-profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear implant (CI) vary significantly among recipients. Genetic diagnosis offers direct clues regarding the pathogenesis of SNHI, which facilitates the development of personalized medicine for potential candidates for CI. In this article, I present a comprehensive overview of the usefulness of genetic information in clinical decision-making for CI. Genetically confirmed diagnosis enables clinicians to: 1) monitor the evolution of SNHI and determine the optimal surgical timing, 2) predict the potential benefits of CI in patients with identified genetic etiology, and 3) select CI devices/electrodes tailored to patients with specific genetic mutations.

Cochlear implantation is currently the treatment of choice for children with severe-to-profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear implant (CI) vary significantly among recipients. Genetic diagnosis offers direct clues regarding the pathogenesis of SNHI, which facilitates the development of personalized medicine for potential candidates for CI. In this article, I present a comprehensive overview of the usefulness of genetic information in clinical decision-making for CI. Genetically confirmed diagnosis enables clinicians to: 1) monitor the evolution of SNHI and determine the optimal surgical timing, 2) predict the potential benefits of CI in patients with identified genetic etiology, and 3) select CI devices/electrodes tailored to patients with specific genetic mutations.

Cochlear implantation is currently the treatment of choice for children with severe-to-profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear implant (CI) vary significantly among recipients. Genetic diagnosis offers direct clues regarding the pathogenesis of SNHI, which facilitates the development of personalized medicine for potential candidates for CI. In this article, I present a comprehensive overview of the usefulness of genetic information in clinical decision-making for CI. Genetically confirmed diagnosis enables clinicians to: 1) monitor the evolution of SNHI and determine the optimal surgical timing, 2) predict the potential benefits of CI in patients with identified genetic etiology, and 3) select CI devices/electrodes tailored to patients with specific genetic mutations.