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The results of this study provide an initial profile of patients with special needs referred for specialist care in Australia. However, the differences in patient profiles between the two units require further investigation into the possible influence of service provision models and barriers to access of care for individuals with special needs and to ensure equitable access to health care.
The results of this study provide an initial profile of patients with special needs referred for specialist care in Australia. However, the differences in patient profiles between the two units require further investigation into the possible influence of service provision models and barriers to access of care for individuals with special needs and to ensure equitable access to health care.
Mucinous cyst neoplasm of the liver (MCN-L) comprise less than 5% of all cystic liver lesions and is characterized by the presence of ovarian stroma and absence of bile duct communication.
Here, we discuss a 45-year-old woman who presented with symptomatic liver mass. Diagnostic workup detected a 4.2 × 3.6cm septate cyst located in segments I, V, and VIII of the liver in communication with the right hepatic duct. An open right liver resection with total bile duct excision and hilar lymphadenectomy was performed. Pathology revealed a multiloculated cyst with lined mucinous epithelium and ovarian-like stroma, consistent with low-grade MCN-L.
This case shows that unusual location and bile duct communication can be present in MCN-L.
This case shows that unusual location and bile duct communication can be present in MCN-L.
Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient.
A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients.
Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.
Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.
The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness.
In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them.
The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation.
Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis.
C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis.
Fostering professional behaviour has become increasingly important in medical education and non-traditional approaches to assessment of professionalism may offer a more holistic representation of students' professional behaviour development. Emerging evidence suggests peer assessment may offer potential as an alternative method of professionalism assessment. We introduced peer assessment of professionalism in pre-clerkship phases of undergraduate medical education curriculum at our institution and evaluated suitability of adopting a professional behaviour scale for longitudinal tracking of student development, and student comfort and acceptance of peer assessment.
Peer assessment was introduced using a validated professional behaviours scale. Students conducted repeated, longitudinal assessments of their peers from small-group, clinical skills learning activities. An electronic assessment system was used to collect peer assessments, collate and provide reports to students. Student opinions of peer assessmreporting peer feedback. Improvement in peer assessed scores was observed over time, however student opinions of the educational value were mixed and indeterminate.
Peer assessment of professional behaviours does expose students to the process of assessing one's peers, however the value of such processes at early stages of medical education may not be fully recognized nor appreciated by students. Electronic means for administering peer assessment is feasible for collecting and reporting peer feedback. Improvement in peer assessed scores was observed over time, however student opinions of the educational value were mixed and indeterminate.
Clinical decision-making of invasive high-intensity care for critically ill stage IV cancer patients in the emergency department (ED) is challenging. A reliable and clinically available prognostic score for advanced cancer patients with septic shock presented at ED is essential to improve the quality of intensive care unit care. This study aimed to develop a new prognostic score for advanced solid cancer patients with septic shock available early in the ED and to compare the performance to the previous severity scores.
This multi-center, prospective cohort study included consecutive adult septic shock patients with stage IV solid cancer. A new scoring system for 28-day mortality was developed and validated using the data of development (January 2016 to December 2017; n = 469) and validation sets (January 2018 to June 2019; n = 428). The developed score's performance was compared to that of the previous severity scores.
New scoring system for 28-day mortality was based on six variables (score range, 0-8)d cancer patients with septic shock admitting at ED within several hours.
Extant literature reveals that medical students suffer from various mental health problems in the process of learning medicine. However, there are few studies evaluating the implementation of a mental health education course in medical curriculum. The current study aimed to test the effectiveness of an 8-week intensive mental health education course, the College Student Mental Health Education Course (CSMHEC), and to gain further insights on how the course could be improved from students' feedback.
This is a quasi-experimental study with both quantitative and qualitative analyses. We recruited 374 first year medical students as our subjects with 188 (age = 17.97 ± 0.65 years, 37.2% male) for the experiment group and 186 (age = 18.02 ± 0.63 years, 40.3% male) for the control group. For quantitative analysis, Depression Anxiety Stress Scales-21 (DASS-21), Chinese College Student Academic Burnout Inventory (CCSABI) and Satisfaction With Life Scale (SWLS) were used and a 5-point Likert scale was used to indicctive in helping medical students improve psychological health. More research needs to be conducted on further refinement and better design of such a course to implement in medical education.
Implementing a mental health education course like CSMHEC in medical curriculum can be effective in helping medical students improve psychological health. More research needs to be conducted on further refinement and better design of such a course to implement in medical education.
HIV is known to increase the likelihood of reactivation of latent tuberculosis to active TB disease; however, its impact on tuberculosis infectiousness and consequent transmission is unclear, particularly in low-incidence settings.
National surveillance data from England, Wales and Northern Ireland on tuberculosis cases in adults from 2010 to 2014, strain typed using 24-locus mycobacterial-interspersed-repetitive-units-variable-number-tandem-repeats was used retrospectively to identify clusters of tuberculosis cases, subdivided into 'first' and 'subsequent' cases. Firstly, we used zero-inflated Poisson regression models to examine the association between HIV status and the number of subsequent clustered cases (a surrogate for tuberculosis infectiousness) in a strain type cluster. Secondly, we used logistic regression to examine the association between HIV status and the likelihood of being a subsequent case in a cluster (a surrogate for recent acquisition of tuberculosis infection) compared to the first cous than those without HIV. EPTB patients with HIV who were the first case in a cluster had a higher number of subsequent cases and thus may be markers of other undetected cases, discoverable by contact investigations. BGB-283 datasheet Outcome 2 tuberculosis in HIV-positive individuals was more likely due to reactivation than recent infection, compared to those who were HIV-negative.
Outcome 1 pulmonary tuberculosis-HIV patients were less infectious than those without HIV. EPTB patients with HIV who were the first case in a cluster had a higher number of subsequent cases and thus may be markers of other undetected cases, discoverable by contact investigations. Outcome 2 tuberculosis in HIV-positive individuals was more likely due to reactivation than recent infection, compared to those who were HIV-negative.
Early detection of Zika virus (ZIKV) infection during the viremia and viruria facilitates proper patient management and mosquito control measurement to prevent disease spread. Therefore, a cost-effective nucleic acid detection method for the diagnosis of ZIKV infection, especially in resource-deficient settings, is highly required.
In the present study, a single-tube reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay was developed for the detection of both the Asian and African-lineage ZIKV. The detection limit, strain coverage and cross-reactivity of the ZIKV RT-LAMP assay was evaluated. The sensitivity and specificity of the RT-LAMP were also evaluated using a total of 24 simulated clinical samples. The ZIKV quantitative reverse transcription-polymerase chain reaction (qRT-PCR) assay was used as the reference assay.
The detection limit of the RT-LAMP assay was 3.73 ZIKV RNA copies (probit analysis, P≤ 0.05). The RT-LAMP assay detected the ZIKV genomes of both the Asian and African lineages without cross-reacting with other arthropod-borne viruses.
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