28 research outputs found

    Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Get PDF
    There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes

    Surgical resection of Haglund deformity by lateral approach: our institutional experience on 29 heels

    Get PDF
    Background: Haglund deformity is a common cause of posterior heel pain and consists of a constellation of soft tissue and osseous abnormalities. The treatment starts with conservative approach and ends with surgical treatment in case conservative treatment fails and the symptoms are bothersome. Different surgical procedures and approaches have been used for this deformity. But in the literature, the results have been inconsistent. In this study we evaluated the clinical and functional outcome of osteotomy of the calcaneal tuberosity with debridement of the retrocalcaneal bursa and the Achilles tendon using a lateral approach at our institute.Methods: A total of 29 feet in 25 patients that underwent surgical procedure from August 2013 to March 2017 at our institute were included in this study. The clinical and functional outcome was evaluated using AOFAS ankle-hind foot scale.Results: The mean AOFAS ankle-hind foot score had improved by 32 points from the pre-operative mean score, with a mean score of 86 at the final follow up of one year. Five out of 29 operated feet had superficial surgical site infection in the postoperative period that responded to antibiotic therapy and regular antiseptic dressings. One patient had local betadine allergy.Conclusions: We conclude lateral approach to debridement and calcaneal tuberosity resection is an effective method with good clinical and functional outcome in patients with refractory Haglund deformity.

    Torsion of the gallbladder: a case report

    Get PDF
    This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

    Large expert-curated database for benchmarking document similarity detection in biomedical literature search

    Get PDF
    Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

    Evaluation of appendicitis risk prediction models in adults with suspected appendicitis

    Get PDF
    Background Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis. Methods A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis). Results Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent). Conclusion Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified

    Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India

    Get PDF
    Background: Primary amenorrhea (PA) is proposed to have multiple etiological factors that include genetic factors, intrauterine malformations, endocrine dysfunction and environmental factors, as revealed by previous studies pertaining to amenorrhea. However, among the various proposed etiologies, genetic factors appear to be highly associated with PA as approximately 40% of PA cases have been found to have genetic causes. Aim of the study: The present study was proposed to establish the frequency and pattern of chromosomal abnormalities in PA cases of Kashmir. Subjects and methods: A total of 108 females within the age group of 14–33 years and having a history of amenorrhea were included in the study. Peripheral blood lymphocyte cultures were set for each subject according to standard protocol and chromosomal analysis was carried out on well spread metaphases by the help of Cytovision software Version 3.9. Results: The results of the present study reveal that the incidence of chromosomal abnormalities in PA cases of this region is almost similar with those of many reports around the world. However, we report two unique chromosomal alterations viz., 46,XX, dup2q(13) and 46,XX, t(2,5)(p11.2;q34) that have not been found elsewhere in the literature. Conclusion: The results of the present study indicate that chromosomal analysis of females with PA, after the exclusion of non-genetic causes, should be essentially considered for the precise diagnosis and the development of more successful treatment. The study being the first of its kind in this part of the world forms the basis for further studies of the PA cases of this region. The precise molecular characterization of the unique breakpoint regions reported in our study can possibly help in the identification of new genes involved in primary amenorrhea

    Surgical resection of Haglund deformity by lateral approach: our institutional experience on 29 heels

    No full text
    Background: Haglund deformity is a common cause of posterior heel pain and consists of a constellation of soft tissue and osseous abnormalities. The treatment starts with conservative approach and ends with surgical treatment in case conservative treatment fails and the symptoms are bothersome. Different surgical procedures and approaches have been used for this deformity. But in the literature, the results have been inconsistent. In this study we evaluated the clinical and functional outcome of osteotomy of the calcaneal tuberosity with debridement of the retrocalcaneal bursa and the Achilles tendon using a lateral approach at our institute.Methods: A total of 29 feet in 25 patients that underwent surgical procedure from August 2013 to March 2017 at our institute were included in this study. The clinical and functional outcome was evaluated using AOFAS ankle-hind foot scale.Results: The mean AOFAS ankle-hind foot score had improved by 32 points from the pre-operative mean score, with a mean score of 86 at the final follow up of one year. Five out of 29 operated feet had superficial surgical site infection in the postoperative period that responded to antibiotic therapy and regular antiseptic dressings. One patient had local betadine allergy.Conclusions: We conclude lateral approach to debridement and calcaneal tuberosity resection is an effective method with good clinical and functional outcome in patients with refractory Haglund deformity.

    Diversity and Distribution of Medicinal Plants along Altitudinal Gradient in Temperate Himalayan Ecosystem

    No full text
    The present study was carried out to determine the floristic diversity and their distribution in Bangus valley of Langate Forest Division, District Kupwara (J&amp;K) India. The aim of this study was to evaluate the distinction in diversity of medicinal plants at varying altitudes based on the onsite vegetation analysis. Hence, the phytosociological study was conducted to assess the floristic diversity of the region and the discussions were held with local people to ascertain the socio-economic importance of the plant diversity. The study reveals that majority of the medicinal plant species are mainly distributed between 2900 to 3200 meters altitude from this relatively unexplored valley. In all the sampled sites, around 51 plant species belonging to 24 families were recorded, among which 2 were tree, 3 shrub and 46 herb species. The tree vegetation was found to be dominated by Abies pindrow whereas Pinus wallichiana has very rare distribution in all the sampled sites. The shrub vegetation was dominated by Viburnum grandiflorum followed by Rosa brunonii and Berberis lycium respectively. In addition, around 80 plant species were reported to be used in different systems of traditional medicine. Therefore, the study provided first comprehensive baseline information on the distribution, diversity and use of plants in different traditional systems of medicine in Bangus valley of Kashmir. This baseline study can be effective for framing various conservation strategies of medicinal plants

    miR766-3p and miR124-3p Dictate Drug Resistance and Clinical Outcome in HNSCC

    No full text
    Head and neck squamous cell carcinoma (HNSCC) is a highly aggressive disease with poor prognosis, which is mainly due to drug resistance. The biology determining the response to chemo-radiotherapy in HNSCC is poorly understood. Using clinical samples, we found that miR124-3p and miR766-3p are overexpressed in chemo-radiotherapy-resistant (non-responder) HNSCC, as compared to responder tumors. Our study shows that inhibition of miR124-3p and miR766-3p enhances the sensitivity of HNSCC cell lines, CAL27 and FaDu, to 5-fluorouracil and cisplatin (FP) chemotherapy and radiotherapy. In contrast, overexpression of miR766-3p and miR124-3p confers a resistance phenotype in HNSCC cells. The upregulation of miR124-3p and miR766-3p is associated with increased HNSCC cell invasion and migration. In a xenograft mouse model, inhibition of miR124-3p and miR766-3p enhanced the efficacy of chemo-radiotherapy with reduced growth of resistant HNSCC. For the first time, we identified that miR124-3p and miR766-3p attenuate expression of CREBRF and NR3C2, respectively, in HNSCC, which promotes aggressive tumor behavior by inducing the signaling axes CREB3/ATG5 and β-catenin/c-Myc. Since miR124-3p and miR766-3p affect complementary pathways, combined inhibition of these two miRNAs shows an additive effect on sensitizing cancer cells to chemo-radiotherapy. In conclusion, our study demonstrated a novel miR124-3p- and miR766-3p-based biological mechanism governing treatment-resistant HNSCC, which can be targeted to improve clinical outcomes in HNSCC
    corecore