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1.
Ann R Coll Surg Engl ; 2024 Sep 24.
Article in English | MEDLINE | ID: mdl-39315949

ABSTRACT

INTRODUCTION: Septorhinoplasty addresses both functional and cosmetic concerns with the nose and has been shown to have consistent, long-term benefits for patients. Nasal irrigation and medication such as antimicrobials are prescribed postoperatively to improve outcomes. Patient compliance with these interventions and outcomes of surgery have not been described. We aim to describe what the effects of compliance with these interventions may be in long-term follow-up. METHODS: Patients undergoing septorhinoplasty were reviewed prospectively from 2015 to 2022. At time of operation, patients were prescribed medications, saline douching and given smoking cessation advice. Patients underwent rhinoplasty outcomes evaluation (ROE) preoperatively, at four weeks, and 3, 12, 24 and 36 months postoperatively. Compliance with postoperative interventions was measured at four weeks. Statistical tests were performed. RESULTS: A total of 56 patients underwent septorhinoplasty. Preoperative ROE scores were improved significantly at all stages of postprocedure follow-up (p<0.0001). Multiple linear regression found no significant differences in patients who were not compliant with medications (p>0.40), nasal douching (p>0.22), both medication and nasal douching (p>0.40), and a positive smoking status (p>0.11) at four weeks. At 3- and 24-months follow-up, there were no significant differences in ROE scores between compliant patients and those who were noncompliant with medications, nasal douching or both (p>0.13). CONCLUSIONS: Our data represent the only series of patient-reported outcomes from septorhinoplasty patients where compliance with nasal irrigation, smoking cessation and antimicrobials is considered. Compliance with nasal irrigation, topical antimicrobials or smoking cessation did not influence postoperative ROE scores.

2.
Sci Rep ; 14(1): 2449, 2024 01 30.
Article in English | MEDLINE | ID: mdl-38291064

ABSTRACT

Accurate identification of patient populations is an essential component of clinical research, especially for medical conditions such as chronic cough that are inconsistently defined and diagnosed. We aimed to develop and compare machine learning models to identify chronic cough from medical and pharmacy claims data. In this retrospective observational study, we compared 3 machine learning algorithms based on XG Boost, logistic regression, and neural network approaches using a large claims and electronic health record database. Of the 327,423 patients who met the study criteria, 4,818 had chronic cough based on linked claims-electronic health record data. The XG Boost model showed the best performance, achieving a Receiver-Operator Characteristic Area Under the Curve (ROC-AUC) of 0.916. We selected a cutoff that favors a high positive predictive value (PPV) to minimize false positives, resulting in a sensitivity, specificity, PPV, and negative predictive value of 18.0%, 99.6%, 38.7%, and 98.8%, respectively on the held-out testing set (n = 82,262). Logistic regression and neural network models achieved slightly lower ROC-AUCs of 0.907 and 0.838, respectively. The XG Boost and logistic regression models maintained their robust performance in subgroups of individuals with higher rates of chronic cough. Machine learning algorithms are one way of identifying conditions that are not coded in medical records, and can help identify individuals with chronic cough from claims data with a high degree of classification value.


Subject(s)
Chronic Cough , Electronic Health Records , Humans , Retrospective Studies , Algorithms , Machine Learning
3.
Curr Med Res Opin ; 40(3): 367-375, 2024 03.
Article in English | MEDLINE | ID: mdl-38259227

ABSTRACT

OBJECTIVE: To develop a machine learning-based predictive algorithm to identify patients with type 2 diabetes mellitus (T2DM) who are candidates for initiation of U-500R insulin (U-500R). METHODS: A retrospective cohort of patients with T2DM was used from a large US administrative claims and electronic health records (EHR) database affiliated with Optum. Predictor variables derived from the data were used to identify appropriate supervised machine learning models including least absolute shrinkage and selection operator (LASSO) and extreme gradient boosted (XGBoost) methods. Predictive performance was assessed using precision-recall (PR) and receiver operating characteristic (ROC) area under the curve (AUC). The clinical interpretation of the final model was supported by fitting the final set of variables from the LASSO and XGBoost models to a traditional logistic regression model. Model choice was determined by comparing Akaike Information Criterion (AIC), residual deviances, and scaled Brier scores. RESULTS: Among 81,242 patients who met the study eligibility criteria, 577 initiated U-500R and were assigned to the positive class. Predictors of U-500R initiation included overweight/obesity, neuropathy, HbA1c ≥9% and 8%-9%, BUN 23.8 to <112 mg/dl, ALT 35.9-2056.2 U/L, no radiological chest exams, no GFR labs, and gait/mobility abnormalities. The best performing model was the LASSO model with an ROC AUC of 0.776 on the hold-out test set. CONCLUSION: This study successfully developed and validated a machine learning-based algorithm to identify U-500R candidates among patients with T2DM. This may help health care providers and decision-makers to understand important characteristics of patients who could use U-500R therapies which in turn could support policies and guidelines for optimal patient management.


Subject(s)
Diabetes Mellitus, Type 2 , Adult , Humans , Diabetes Mellitus, Type 2/drug therapy , Insulin/therapeutic use , Retrospective Studies , Machine Learning , Algorithms
4.
Ann R Coll Surg Engl ; 106(1): 45-50, 2024 Jan.
Article in English | MEDLINE | ID: mdl-36748797

ABSTRACT

INTRODUCTION: Benign paroxysmal positional vertigo (BPPV) is the most common cause of peripheral vertigo. It can have a significant impact on quality of life, with individuals often seeking information online for reassurance and education. The aim of this study is to assess the readability and quality of online information on BPPV. METHODS: The terms 'benign paroxysmal positional vertigo' and 'BPPV' were entered into Google. The first 50 websites generated for each search term were screened. Readability was assessed using the Flesch-Kincaid Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), Simple Measure of Gobbledygook (SMOG) Index and Gunning Fog Index (GFOG). Quality was assessed using the DISCERN instrument. Spearman's correlation between quality and readability was calculated. RESULTS: A total of 39 websites met the inclusion criteria. The mean and 95% confidence intervals for the FRES, FKGL, SMOG, GFOG and DISCERN scores were 50.2 (46.1-54.3), 10.6 (9.87-11.4), 10.1 (9.5-10.7), 13.6 (12.7-14.4) and 36.7 (34.6-38.7), respectively. Weak correlation was noted between DISCERN and FRES (rs = -0.23, p = 0.17). CONCLUSION: Online information on BPPV is generally of poor quality and low readability. It is essential that healthcare professionals inform their patients of this limitation and advocate for improved online patient education resources that are both high quality and easy to comprehend.


Subject(s)
Benign Paroxysmal Positional Vertigo , Comprehension , Humans , Quality of Life , Smog , Reading , Internet
5.
Ann R Coll Surg Engl ; 106(2): 178-184, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37051757

ABSTRACT

INTRODUCTION: Anosmia can have a significant impact on well-being and quality of life. Due to an ageing population and the coronavirus disease 2019, increasing numbers of patients are seeking online information on anosmia. This report systematically assesses the readability and quality of online information on anosmia. METHODS: The terms 'anosmia' and 'loss of smell' were entered into Google. The first 50 websites generated for each search term were screened. Readability was assessed using the Flesch-Kincaid Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), Simple Measure of Gobbledygook (SMOG) Index and Gunning Fog Index (GFI). Quality was assessed using the DISCERN instrument. Spearman's correlation between quality and readability was calculated. RESULTS: A total of 79 websites met the inclusion criteria. The mean and 95% confidence interval for the FRES, FKGL, SMOG, GFI and DISCERN scores were 46.31 (42.94-49.68), 12.00 (11.27-12.73), 10.70 (10.16-11.23), 14.62 (13.85-15.39) and 2.90 (2.69-3.11), respectively. Significant negative correlation was noted between the DISCERN and FRES (rs=-0.500; p<0.05). DISCUSSION: Online information on anosmia is written above the recommended reading age guidance in the UK, and has moderate deficiencies in quality. As a result, the information may be used inappropriately and could result in worse health outcomes. We recommend that patients are directed to websites produced by health providers or nonprofit organisations that develop material for patient health education. CONCLUSIONS: Online information on anosmia is of low readability and moderate quality. Healthcare professionals should direct patients towards high-quality resources written for the layperson.


Subject(s)
Anosmia , Comprehension , Humans , Quality of Life , Smog , Reading , Internet
7.
Cureus ; 15(3): e36434, 2023 Mar.
Article in English | MEDLINE | ID: mdl-37090317

ABSTRACT

Diffuse scleroderma is a kind of scleroderma in which the immune system malfunctions, leading to excessive production of collagen in the skin and a variety of organ abnormalities. Based on previously recognized criteria, overlap syndrome is a disorder in which two or more medical illnesses are documented in a single patient. These syndromes are significantly more prevalent in illnesses with mixed connective tissue. In this case report, we present a patient with overlapping systemic sclerosis and polymyositis symptoms. The treatment and diagnosis of this extremely uncommon condition are discussed in further detail.

8.
J Laryngol Otol ; 137(10): 1149-1153, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36856000

ABSTRACT

OBJECTIVE: This study aimed to explore the current practices of the UK rhinology consultant body in regard to cocaine screening in nasal reconstructive surgery. METHOD: A 12-question online survey was distributed to rhinology consultants (October 2021 to February 2022) currently practising in the UK. RESULTS: A total of 55 consultants responded. Fifty-three per cent asked patients about cocaine use prior to consideration of surgery, and 45 per cent performed cocaine testing prior to consideration of surgery. Of these, the majority employed urine testing alone (60 per cent), with hair testing being less common as a single screening modality (4 per cent). Sixteen per cent opted for both urine and hair testing. The most common reasons for not performing cocaine testing included patient history or clinical examination that was not suggestive of cocaine use (44 per cent), lack of formal guidelines (33 per cent) and lack of testing availability (27 per cent). Sixty-four per cent were in favour of a national policy for cocaine screening. CONCLUSION: There is marked variation in cocaine screening practices for nasal reconstructive surgery among UK rhinologists.


Subject(s)
Cocaine , Surgery, Plastic , Humans , Consultants , Cross-Sectional Studies , United Kingdom
9.
Ann R Coll Surg Engl ; 105(7): 639-644, 2023 Sep.
Article in English | MEDLINE | ID: mdl-36374281

ABSTRACT

INTRODUCTION: The aim of this study was to assess the readability and quality of online information on functional endoscopic sinus surgery (FESS). METHODS: The term 'functional endoscopic sinus surgery' was entered into the Google, Bing and Yahoo search engines. The first 30 websites for each search engine were screened. Readability was assessed using the Flesch-Kincaid Reading Ease Score (FRES), Flesch-Kincaid Grade (FKG), Simple Measure of Gobbledygook (SMOG) Index, and Gunning Fog Index (GFI). Quality was assessed using the DISCERN instrument. Spearman's correlation between quality and readability was calculated. RESULTS: Thirty-three websites met the inclusion criteria. The mean and standard deviations for the FRES, FKG, SMOG, GFI, and DISCERN scores were 49 (13.1), 10.9 (2.5), 10.2 (1.9), 13.6 (2.4), and 51.1 (12.8), respectively. A positive correlation was noted between the FRES and DISCERN (R=0.357, p=0.041). CONCLUSIONS: Online information on FESS is generally written above the recommended reading levels and of fair quality.


Subject(s)
Comprehension , Smog , Humans , Search Engine , Internet
10.
J Laryngol Otol ; 137(1): 81-84, 2023 Jan.
Article in English | MEDLINE | ID: mdl-35445645

ABSTRACT

OBJECTIVE: To assess the current standard of consent for functional endoscopic sinus surgery and determine whether it complies with the law following the Montgomery ruling. METHODS: Ten complications following functional endoscopic sinus surgery were identified as common or serious from a literature search. Using questionnaires, ENT surgeons were asked which of these complications they discussed with patients, and patients were asked how seriously they regarded those risks using a five-point Likert scale. RESULTS: Consent practice from 21 ENT surgeons and data from 103 patients were analysed. The 'reasonable patient' would expect to be consented for all risks, except for pain, and scarring or adhesions. Most ENT surgeons would routinely discuss all risks that were considered significant, except for facial paraesthesia (29 per cent) and damage to the nasolacrimal duct (24 per cent). A negative change in sense of smell was not mentioned by 29 per cent of surgeons. CONCLUSION: This paper demonstrates that the current consent process for functional endoscopic sinus surgery is likely to be substandard medicolegally.


Subject(s)
Postoperative Complications , Surgeons , Humans , Postoperative Complications/etiology , Endoscopy/adverse effects , Surveys and Questionnaires , Informed Consent
11.
J Diabetes Sci Technol ; 17(6): 1573-1579, 2023 11.
Article in English | MEDLINE | ID: mdl-35596567

ABSTRACT

BACKGROUND: The aim of this study was to develop a predictive model to classify people with type 2 diabetes (T2D) into expected levels of success upon bolus insulin initiation. METHODS: Machine learning methods were applied to a large nationally representative insurance claims database from the United States (dNHI database; data from 2007 to 2017). We trained boosted decision tree ensembles (XGBoost) to assign people into Class 0 (never meeting HbA1c goal), Class 1 (meeting but not maintaining HbA1c goal), or Class 2 (meeting and maintaining HbA1c goal) based on the demographic and clinical data available prior to initiating bolus insulin. The primary objective of the study was to develop a model capable of determining at an individual level, whether people with T2D are likely to achieve and maintain HbA1c goals. HbA1c goal was defined at <8.0% or reduction of baseline HbA1c by >1.0%. RESULTS: Of 15 331 people with T2D (mean age, 53.0 years; SD, 8.7), 7800 (50.9%) people met HbA1c goal but failed to maintain that goal (Class 1), 4510 (29.4%) never attained this goal (Class 0), and 3021 (19.7%) people met and maintained this goal (Class 2). Overall, the model's receiver operating characteristic (ROC) was 0.79 with greater performance on predicting those in Class 2 (ROC = 0.92) than those in Classes 0 and 1 (ROC = 0.71 and 0.62, respectively). The model achieved high area under the precision-recall curves for the individual classes (Class 0, 0.46; Class 1, 0.58; Class 2, 0.71). CONCLUSIONS: Predictive modeling using routine health care data reasonably accurately classified patients initiating bolus insulin who would achieve and maintain HbA1c goals, but less so for differentiation between patients who never met and who did not maintain goals. Prior HbA1c was a major contributing parameter for the predictions.


Subject(s)
Diabetes Mellitus, Type 2 , Insulin , Humans , Middle Aged , Insulin/therapeutic use , Diabetes Mellitus, Type 2/drug therapy , Hypoglycemic Agents/therapeutic use , Glycated Hemoglobin , Blood Glucose , Insulin, Regular, Human/therapeutic use
12.
J Laryngol Otol ; 137(10): 1130-1134, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36524547

ABSTRACT

OBJECTIVE: This study aimed to evaluate the readability and quality of current online information on Bell's palsy. METHOD: A Google search using the terms 'Bell's palsy' and 'facial palsy' was performed separately. The first three pages of results were analysed. Readability was assessed using Flesch Reading Ease Score, Flesch-Kincaid Grade Level, the Gunning-Fog Index and the Simple Measure of Gobbledygook. Quality was assessed using the Discern tool. Spearman's correlation between quality and readability was calculated. RESULTS: A total of 31 websites met the inclusion criteria. The mean Flesch Reading Ease Score, Flesch-Kincaid Grade Level, the Gunning Fox Index and the Simple Measure of Gobbledygook scores were 52.45 (95 per cent confidence interval = 47.01-57.86), 10.50 (95 per cent confidence interval = 9.42-11.58), 12.76 (95 per cent confidence interval = 11.68-13.85) and 9.36 (95 per cent confidence interval = 8.52-10.20), respectively. The average Discern score was 44 (95 per cent confidence interval = 40.88-47.12). A negligible correlation was noted between the Discern and Flesch Reading Ease Score (rs = -0.05, p = 0.80). CONCLUSION: Online information on Bell's palsy is generally of fair quality but is written above the recommended reading age guidance in the UK.


Subject(s)
Bell Palsy , Humans , Comprehension , Internet , Reading
14.
Ann R Coll Surg Engl ; 104(4): e116-e118, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34825830

ABSTRACT

Inverted papillomas are rare benign neoplasms that typically originate in the sinonasal area of middle-aged men. We report the first case of a supraglottic inverted papilloma presenting with stridor.


Subject(s)
Neoplasms , Papilloma, Inverted , Humans , Male , Middle Aged , Papilloma, Inverted/complications , Papilloma, Inverted/diagnosis , Papilloma, Inverted/surgery , Respiratory Sounds/etiology
15.
Persoonia ; 48: 261-371, 2022 Jul 12.
Article in English | MEDLINE | ID: mdl-38234686

ABSTRACT

Novel species of fungi described in this study include those from various countries as follows: Australia, Agaricus albofoetidus, Agaricus aureoelephanti and Agaricus parviumbrus on soil, Fusarium ramsdenii from stem cankers of Araucaria cunninghamii, Keissleriella sporoboli from stem of Sporobolus natalensis, Leptosphaerulina queenslandica and Pestalotiopsis chiaroscuro from leaves of Sporobolus natalensis, Serendipita petricolae as endophyte from roots of Eriochilus petricola, Stagonospora tauntonensis from stem of Sporobolus natalensis, Teratosphaeria carnegiei from leaves of Eucalyptus grandis × E. camaldulensis and Wongia ficherai from roots of Eragrostis curvula. Canada, Lulworthia fundyensis from intertidal wood and Newbrunswickomyces abietophilus (incl. Newbrunswickomyces gen. nov.) on buds of Abies balsamea. Czech Republic, Geosmithia funiculosa from a bark beetle gallery on Ulmus minor and Neoherpotrichiella juglandicola (incl. Neoherpotrichiella gen. nov.) from wood of Juglans regia. France, Aspergillus rouenensis and Neoacrodontium gallica (incl. Neoacrodontium gen. nov.) from bore dust of Xestobium rufovillosum feeding on Quercus wood, Endoradiciella communis (incl. Endoradiciella gen. nov.) endophytic in roots of Microthlaspi perfoliatum and Entoloma simulans on soil. India, Amanita konajensis on soil and Keithomyces indicus from soil. Israel, Microascus rothbergiorum from Stylophora pistillata. Italy, Calonarius ligusticus on soil. Netherlands, Appendopyricularia juncicola (incl. Appendopyricularia gen. nov.), Eriospora juncicola and Tetraploa juncicola on dead culms of Juncus effusus, Gonatophragmium physciae on Physcia caesia and Paracosmospora physciae (incl. Paracosmospora gen. nov.) on Physcia tenella, Myrmecridium phragmitigenum on dead culm of Phragmites australis, Neochalara lolae on stems of Pteridium aquilinum, Niesslia nieuwwulvenica on dead culm of undetermined Poaceae, Nothodevriesia narthecii (incl. Nothodevriesia gen. nov.) on dead leaves of Narthecium ossifragum and Parastenospora pini (incl. Parastenospora gen. nov.) on dead twigs of Pinus sylvestris. Norway, Verticillium bjoernoeyanum from sand grains attached to a piece of driftwood on a sandy beach. Portugal, Collybiopsis cimrmanii on the base of living Quercus ilex and amongst dead leaves of Laurus and herbs. South Africa, Paraproliferophorum hyphaenes (incl. Paraproliferophorum gen. nov.) on living leaves of Hyphaene sp. and Saccothecium widdringtoniae on twigs of Widdringtonia wallichii. Spain, Cortinarius dryosalor on soil, Cyphellophora endoradicis endophytic in roots of Microthlaspi perfoliatum, Geoglossum lauri-silvae on soil, Leptographium gemmatum from fluvial sediments, Physalacria auricularioides from a dead twig of Castanea sativa, Terfezia bertae and Tuber davidlopezii in soil. Sweden, Alpova larskersii, Inocybe alpestris and Inocybe boreogodeyi on soil. Thailand, Russula banwatchanensis, Russula purpureoviridis and Russula lilacina on soil. Ukraine, Nectriella adonidis on overwintered stems of Adonis vernalis. USA, Microcyclus jacquiniae from living leaves of Jacquinia keyensis and Penicillium neoherquei from a minute mushroom sporocarp. Morphological and culture characteristics are supported by DNA barcodes. Citation: Crous PW, Boers J, Holdom D, et al. 2022. Fungal Planet description sheets: 1383-1435. Persoonia 48: 261-371. https://doi.org/10.3767/persoonia.2022.48.08.

16.
Sci Rep ; 10(1): 19158, 2020 11 05.
Article in English | MEDLINE | ID: mdl-33154449

ABSTRACT

The safety and efficacy of kratom (Mitragyna speciosa) for treatment of pain is highly controversial. Kratom produces more than 40 structurally related alkaloids, but most studies have focused on just two of these, mitragynine and 7-hydroxymitragynine. Here, we profiled 53 commercial kratom products using untargeted LC-MS metabolomics, revealing two distinct chemotypes that contain different levels of the alkaloid speciofoline. Both chemotypes were confirmed with DNA barcoding to be M. speciosa. To evaluate the biological relevance of variable speciofoline levels in kratom, we compared the opioid receptor binding activity of speciofoline, mitragynine, and 7-hydroxymitragynine. Mitragynine and 7-hydroxymitragynine function as partial agonists of the human µ-opioid receptor, while speciofoline does not exhibit measurable binding affinity at the µ-, δ- or ƙ-opioid receptors. Importantly, mitragynine and 7-hydroxymitragynine demonstrate functional selectivity for G-protein signaling, with no measurable recruitment of ß-arrestin. Overall, the study demonstrates the unique binding and functional profiles of the kratom alkaloids, suggesting potential utility for managing pain, but further studies are needed to follow up on these in vitro findings. All three kratom alkaloids tested inhibited select cytochrome P450 enzymes, suggesting a potential risk for adverse interactions when kratom is co-consumed with drugs metabolized by these enzymes.


Subject(s)
Analgesics/pharmacology , Mitragyna/chemistry , Plant Extracts/chemistry , Receptors, Opioid, mu/metabolism , Secologanin Tryptamine Alkaloids/pharmacology , Chromatography, Liquid , Humans , Metabolomics , Microsomes, Liver/drug effects , Microsomes, Liver/metabolism , Tandem Mass Spectrometry
17.
Med Oncol ; 36(10): 85, 2019 Sep 06.
Article in English | MEDLINE | ID: mdl-31493088

ABSTRACT

Older patients are underrepresented in oncological clinical trials. The incidence of hepatopancreaticobiliary (HPB) malignancies is higher in older patients, but data on outcomes are lacking. This study assessed patient outcomes in those < 80 and ≥ 80 years with a HPB malignancy seen at a tertiary referral centre, The Christie NHS Foundation Trust. Data on patients with a HPB malignancy were collected retrospectively between 2012 and 2017 via on-line case-note review. Survival was calculated using the Kaplan-Meier method and prognostic factors using log-rank analysis. Of 1421 patients, 10% were ≥ 80 years. Of patients < 80 and ≥ 80 years, 56% and 57% had pancreas cancer, 39% and 36% biliary tract cancer, and 5% and 7% had hepatocellular carcinoma, respectively. Amongst patients ≥ 80 years, 75% had an Eastern Cooperative Oncology Group performance status (ECOG PS) 0-2. Patients ≥ 80 years had higher rates of comorbidity; 28% received systemic anti-cancer therapy (SACT), compared with 62% of patients < 80 years. Best supportive care (BSC) was instituted in 44% of older patients, compared with 13% in those < 80 years. Of patients ≥ 80 years who received SACT, 82% received monotherapy. Median overall survival (OS) for patients receiving palliative SACT was 10.07 months (95% CI 8.89-11.08) and 10.10 months (95% CI 6.30-12.30) in patients < 80 and ≥ 80 years, respectively, p 0.41; ECOG PS (p < 0.001) was prognostic for OS in older patients but Adult Comorbidity Evaluation-27 comorbidity score (p = 0.07, when comparing groups of ACE score ≤ 1 and > 1) was not. Baseline factors were similar in both age cohorts, but more comorbidities were present in older patients. Older patients were less likely to receive SACT, but when they did, they had an equivalent benefit in OS to younger patients.


Subject(s)
Biliary Tract Neoplasms/epidemiology , Carcinoma, Hepatocellular/epidemiology , Liver Neoplasms/epidemiology , Pancreatic Neoplasms/epidemiology , Aged, 80 and over , Comorbidity , Female , Humans , Incidence , Kaplan-Meier Estimate , Male , Prognosis , Retrospective Studies , Survival Analysis , Treatment Outcome
18.
Clin Genet ; 96(2): 134-139, 2019 08.
Article in English | MEDLINE | ID: mdl-30945277

ABSTRACT

Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.


Subject(s)
Alleles , Codon, Nonsense , Exome Sequencing , Polydactyly/diagnosis , Polydactyly/genetics , Chromosome Mapping , Computational Biology/methods , Consanguinity , Genotype , Humans , Microsatellite Repeats , Pedigree , Radiography , Sequence Analysis, DNA
19.
Indian J Psychol Med ; 40(6): 528-533, 2018.
Article in English | MEDLINE | ID: mdl-30533948

ABSTRACT

CONTEXT: Elder abuse has devastating consequences such as poor quality of life, psychological distress and loss of property and security. Abuse of elderly patients with depression has not been adequately researched in India. AIMS: To explore the prevalence and predictors of abuse and its relation to various sociodemographic variables in elderly patients with depression. SETTINGS AND DESIGN: A cross-sectional, observational study carried out at a tertiary care centre in Jamnagar. METHODS AND MATERIALS: In all, 100 elderly patients with depression, attending Out Patient Department of Psychiatry at Shree M. P. Shah Government Medical College and Guru Gobind Singh Hospital, Jamnagar, were selected using simple random sampling by lottery method. Actual Abuse Tool and Elder Abuse Suspicion Index were used to detect abuse. Geriatric Depression Scale was used to assess depression, and Mini Mental State Examination was used to rule out dementia. STATISTICAL ANALYSIS: Descriptive statistics, Chi-square test, and binary logistic regression were used. RESULTS: The prevalence of abuse was 24%. Among those who had experienced abuse, 50% had experienced psychological abuse, 17% had experienced neglect, 8% had experienced exploitation and 4% had experienced physical abuse. About 54% of patients with severe depression had experienced abuse. Daughters-in-law (54%) and sons (42%) were the most common perpetrators. Illiteracy and severe depression were found to be the predictors of abuse.

20.
J Biomech ; 60: 30-38, 2017 07 26.
Article in English | MEDLINE | ID: mdl-28683928

ABSTRACT

Spontaneous rupture of the Achilles tendon is increasingly common in the middle aged population. However, the cause for the particularly high incidence of injury in this age group is not well understood. Therefore, the objective of this study was to identify age-specific differences in the Achilles tendon-muscle complex using an animal model. Functional measures were performed in vivo and tissues were harvested following euthanasia for mechanical, structural, and histological analysis from young, middle aged, and old rats. Numerous alterations in tendon properties were detected across age groups, including inferior material properties (maximum stress, modulus) with increasing age. Differences in function were also observed, as older animals exhibited increased ankle joint passive stiffness and decreased propulsion force during locomotion. Macroscale differences in tendon organization were not observed, although cell density and nuclear shape did vary between age groups. Muscle fiber size and type distribution were not notably affected by age, indicating that other factors may be more responsible for age-specific Achilles tendon rupture rates. This study improves our understanding of the role of aging in Achilles tendon biomechanics and ankle function, and helps provide a potential explanation for the disparate incidence of Achilles tendon ruptures in varying age groups.


Subject(s)
Achilles Tendon/physiology , Tarsal Joints/physiology , Aging , Animals , Elasticity , Gait , Humans , Male , Muscle Fibers, Skeletal/physiology , Range of Motion, Articular , Rats, Inbred F344 , Tarsus, Animal/physiology
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