Ci ji yi xue za zhi = Tzu-chi medical journal最新文献

Lower urinary tract symptoms (LUTS) are complicated and cannot be used alone to diagnose lower urinary tract dysfunctions (LUTDs) and guide treatment. Patients with bladder outlet obstruction (BOO), impaired detrusor contractility, and hypersensitive bladder might present with voiding predominant symptoms, whereas patients with detrusor overactivity (DO), dysfunctional voiding, or BOO might also present with storage symptoms. To clearly identify the pathophysiology of LUTD, a comprehensive urodynamic study (UDS) including pressure flow and image during the storage and emptying phases, naming videourodynamic study (VUDS), is necessary. This study is especially mandatory in the diagnosis of (1) male LUTS refractory to medical treatment for benign prostatic hyperplasia, (2) female voiding dysfunction and urinary retention, (3) diagnosis of overactive bladder syndrome refractory to first-line medication, (4) management of female stress urinary incontinence and postoperative LUTS, (5) diagnosis and management of neurogenic LUTD, (6) pediatric urinary incontinence and enuresis, (7) geriatric urinary incontinence, and (8) recurrent bacterial cystitis. Although VUDS should not be used as a screening test for any LUTS, it should be considered when the initial management cannot relieve LUTS, or when invasive surgical procedure is planning to undertake for patients with refractory LUTS. VUDS should be recommended as the second-line investigation when the initial diagnosis and treatment based on the symptoms alone or noninvasive tests fail to improve LUTS.

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are considered sister imprinting disorders. Although both AS and PWS congenital neurodevelopmental disorders have chromosome 15q11.3-q13 dysfunction, their molecular mechanisms differ owing to genomic imprinting, which results in different parent-of-the-origin gene expressions. Recently, several randomized controlled trials have been proceeded to treat specific symptoms of AS and PWS. Due to the advance of clinical management, early diagnosis for patients with AS and PWS is important. PWS is induced by multiple paternal gene dysfunctions, including those in MKRN3, MAGEL2, NDN, SNURF-SNPRPN, NPAP1, and a cluster of small nucleolar RNA genes. PWS patients exhibit characteristic facial features, endocrinological, and behavioral phenotypes, including short and obese figures, hyperphagia, growth hormone deficiency, hypogonadism, autism, or obsessive- compulsive-like behaviors. In addition, hypotonia, poor feeding, failure to thrive, and typical facial features are major factors for early diagnosis of PWS. For PWS patients, epilepsy is not common and easy to treat. Conversely, AS is a single-gene disorder induced by ubiquitin-protein ligase E3A dysfunction, which only expresses from a maternal allele. AS patients develop epilepsy in their early lives and their seizures are difficult to control. The distinctive gait pattern, excessive laughter, and characteristic electroencephalography features, which contain anterior-dominated, high-voltage triphasic delta waves intermixed with epileptic spikes, result in early suspicion of AS. Often, polytherapy, including the combination of valproate, levetiracetam, lamotrigine, and benzodiazepines, is required for controlling seizures of AS patients. Notably, carbamazepine, oxcarbazepine, and vigabatrin should be avoided, since these may induce nonconvulsive status epilepticus. AS and PWS presented with distinct clinical manifestations according to specific molecular defects due to genomic imprinting. Early diagnosis and teamwork intervention, including geneticists, neurologists, rehabilitation physicians, and pulmonologists, are important. Epilepsy is common in patients with AS, and after proper treatment, seizures could be effectively controlled in late childhood or early adulthood for both AS and PWS patients.

A 44-year-old female presented with cavernous hemangioma of the posterior mediastinum. Imaging revealed that it was approximately 2 cm in size and without an arterial supply from either the thoracic aorta or intercostal artery. The patient was treated with intraoperative sclerotherapy and hemangioma resection by uniport thoracoscopic surgery via a small 3-cm surgical wound. The surgical outcome and follow-up were good.

The current fatality of dengue among the Bangladeshi population has drawn the interest of the public health professionals primarily to focus on the environmental, social, and clinical reasoning as well the possible remedies. This year, in 2019, the dengue situation in Bangladesh has appeared with all its dreadful effects leading to the highest death cases due to dengue virus (DENV) infection. According to the Directorate General of Health Services report, this year (2019) the number of DENV-infected people has appeared to be around five times higher (approximately 50,000 cases so far) compared with the last year, 2018 (around 10,000 cases). The present review discussed the current epidemics of dengue infection in Bangladesh as well the possible means of disease curing in terms of general preventive concepts. However, besides the precise treatment of the dengue-affected patients, the knowledge on DENV genome and on the protective immunity against such reemerging disease is essential.

The visual impairment associated with inherited retinal degeneration and age-related degeneration of photoreceptors is causing substantial challenges in finding effective therapies. However, induced pluripotent stem cell (iPSC)-derived therapeutic cells such as photoreceptor and retinal pigment epithelium (RPE) cells provide the ultimate options in the rescue of lost photoreceptors to improve the visual function in end-stage degeneration. Retinal cells derived from iPSC are therapeutic cells that could be promising in the field of cell replacement therapy and regenerative medicine. This review presents an overview of the photoreceptor degeneration, methods of iPSC generation, iPSC in retinal disease modeling, summarizes the photoreceptor differentiation protocols, and challenges remained with photoreceptor cell replacement for the treatment of retinal diseases. Thus, the burden and increased incidence of visual impairment emphasizes the need of novel therapy, where iPSC-derived photoreceptor and RPE cells proved to be promising for curing the retinal dysfunction and act as renovation in approach to improve visual function.

Objective: HLA-C*03:187 is a rare frequency allele in the human leukocyte antigen (HLA)-C locus. The purpose of this investigation is to indicate the ethnicity of C*03:187 and its deduced plausible HLA haplotype in association in Taiwanese unrelated bone marrow stem cell donors.

Materials and methods: A DNA sequence-based typing procedure was used to verify the rare frequency allele C*03:187. Employing group-specific primer sets' polymerase chain reaction was carried out to amplify exons 2 and 3 of HLA-A locus, HLA-B locus, exon 1 to exon 7 of the HLA-C locus, and exon 2 of the HLA-DRB1 locus. The amplified gene products were sequenced employing the BigDye^® Terminator Cycle Sequencing Ready Reaction kits in both directions according to the manufacturer's instructions.

Results: The DNA sequence of C*03:187 is identical to C*03:03:01:01 from exon 1 to exon 7, except for codon 152 of exon 3 where GAG of C*03:03:01:01 is replaced by GTG in C*03:187. The nucleotide replacement causes one amino acid change to the protein sequence of C*03:03:01:01 at position 152 where glutamic acid (E) is changed to a valine (V) in C*03:187. The deduced plausible HLA haplotype in association with C*03:187 in Taiwanese is as A*24:02-B*35:01-C*03:187-DRB1*11:01.

Conclusion: The data on the deduced plausible HLA haplotype in association with the low-frequency C*03:187 allele that we described in this report are valuable for immunogenetics laboratories for reference purposes. In addition, they can be utilized by search coordinators in hematopoietic stem cell transplant programs to determine a strategy for locating compatible donors in unrelated bone marrow donor registries for a patient with this unusual HLA allele.

Communication skills is an essential competence for physicians. Good communication skills correlate with higher patient satisfaction and overall patient outcome. Therefore, such training should start as early as in the undergraduate curriculum with experiential methods and more advanced skills to be integrated at different levels. Design of the training program should prepare for the transfer of communication skills into the clinical setting. Supervision from clinician educators could enhance the transfer of communication skills. Faculty development programs could help clinician educators to develop teaching skills needed in teaching communication. Continuous feedback from teachers and reflective practice of the learners are essential for effective learning of communication skills. The design of the teaching should be based on theory such as adult learning theory or experiential learning. Gagne's model provides a template for the systemic design of instructional events, and this article will illustrate an example of teaching communication skills based on the model.

Objectives: To avoid anatomical and functional damage to mandibular interforaminal region during surgeries, it is necessary to detect the existence of mandibular incisive canal (MIC) and its proximity to adjacent structures. This study was aimed to evaluate the prevalence of MIC and its proximity to adjacent structures among Indian population.

Materials and methods: The images of 80 subjects with the age range of 20-60 years who had undergone cone beam computed tomography examination of the mandible were retrieved from the archival records. There was equal distribution of males and females.

Results: The prevalence of MIC in the current study sample was found to be 43.89% with a slightly higher prevalence on left side as compared to right side, and higher prevalence among females as compared to males. Among different age groups, there was an increased incidence in the age group of >50 years. The distance of MIC from labial and lingual cortical plates and lower border of mandible were 4.338 ± 1.478 mm, 4.34 ± 1.53 mm and 9.417 ± 1.832 mm respectively.

Conclusions: To conclude, the prevalence of MIC among Indian population was lower as compared to the prevalence among other populations. There were variations in prevalence in terms of age, gender and laterality, which could be used as a reference for further studies conducted on larger sample size. Mapping the incisive nerve canal will enable oral radiologists, to plan safely and negotiate the interforaminal region.