Cellular Origins of Endometriosis: Towards Novel Diagnostics and Therapeutics

2020 ◽  
Vol 38 (02/03) ◽  
pp. 201-215
Author(s):  
Caitlin E. Filby ◽  
Luk Rombauts ◽  
Grant W. Montgomery ◽  
Linda C. Giudice ◽  
Caroline E. Gargett
Keyword(s):  
Clinical Care ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Disease Recurrence ◽  
Diagnostic Tools ◽  
Unknown Etiology ◽  
Treatment Pathways ◽  
Retrograde Menstruation ◽  
Personalized Diagnosis ◽  
New Research

AbstractEndometriosis remains an enigmatic disease of unknown etiology, with delayed diagnosis and poor therapeutic options. This review will discuss the cellular, physiological, and genomic evidence of Sampson's hypothesis of retrograde menstruation as a cause of pelvic endometriosis and as the basis of phenotypic heterogeneity of the disease. We postulate that collaborative research at the single cell level focused on unlocking the cellular, physiological, and genomic mechanisms of endometriosis will be accompanied by advances in personalized diagnosis and therapies that target unique subtypes of endometriosis disease. These advances will address the clinical conundrums of endometriosis clinical care—including diagnostic delay, suboptimal treatments, disease recurrence, infertility, chronic pelvic pain, and quality of life. There is an urgent need to improve outcomes for women with endometriosis. To achieve this, it is imperative that we understand which cells form the lesions, how they arrive at distant sites, and what factors govern their ability to survive and invade at ectopic locations. This review proposes new research avenues to address these basic questions of endometriosis pathobiology that will lay the foundations for new diagnostic tools and treatment pathways.

Gastroesophageal Reflux Disease: A Gastroenterologist's Perspective

2011 ◽  
Vol 21 (3) ◽  
pp. 89-99
Author(s):  
Michael F. Vaezi
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Best Practice ◽  
Clinical Care ◽  
Diagnostic Testing ◽  
Diagnostic Tools ◽  
Swallowing Function ◽  
Atypical Symptoms

Gastroesophageal reflux disease (GERD) is a commonly diagnosed condition often associated with the typical symptoms of heartburn and regurgitation, although it may present with atypical symptoms such as chest pain, hoarseness, chronic cough, and asthma. In most cases, the patient's reduced quality of life drives clinical care and diagnostic testing. Because of its widespread impact on voice and swallowing function as well as its social implications, it is important that speech-language pathologists (SLPs) understand the nature of GERD and its consequences. The purpose of this article is to summarize the nature of GERD and GERD-related complications such as GERD-related peptic stricture, Barrett's esophagus and adenocarcinoma, and laryngeal manifestations of GERD from a gastroenterologist's perspective. It is critical that SLPs who work with a multidisciplinary team understand terminology, diagnostic tools, and treatment to ensure best practice.

scholarly journals Diagnosis and Management of Osteoporosis During COVID-19: Systematic Review and Practical Guidance

2021 ◽  
Author(s):  
G. Hampson ◽  
M. Stone ◽  
J. R. Lindsay ◽  
R. K. Crowley ◽  
S. H. Ralston
Keyword(s):  
Clinical Care ◽  
Fragility Fractures ◽  
Osteoporosis Treatment ◽  
Healthcare Services ◽  
Urgent Care ◽  
Health Concern ◽  
Care Pathways ◽  
Long Term Conditions ◽  
Treatment Pathways ◽  
Diagnosis And Management

AbstractIt is acknowledged that the COVID-19 pandemic has caused profound disruption to the delivery of healthcare services globally. This has affected the management of many long-term conditions including osteoporosis as resources are diverted to cover urgent care. Osteoporosis is a public health concern worldwide and treatment is required for the prevention of further bone loss, deterioration of skeletal micro-architecture, and fragility fractures. This review provides information on how the COVID-19 pandemic has impacted the diagnosis and management of osteoporosis. We also provide clinical recommendations on the adaptation of care pathways based on experience from five referral centres to ensure that patients with osteoporosis are still treated and to reduce the risk of fractures both for the individual patient and on a societal basis. We address the use of the FRAX tool for risk stratification and initiation of osteoporosis treatment and discuss the potential adaptations to treatment pathways in view of limitations on the availability of DXA. We focus on the issues surrounding initiation and maintenance of treatment for patients on parenteral therapies such as zoledronate, denosumab, teriparatide, and romosozumab during the pandemic. The design of these innovative care pathways for the management of patients with osteoporosis may also provide a platform for future improvement to osteoporosis services when routine clinical care resumes.

Imperforate hymen mimicking acute appendicitis in an adolescent woman: a rare presentation

2021 ◽  
Vol 14 (3) ◽  
pp. e238547
Author(s):  
Victoria Rose Russell ◽  
Mohamed Ibrahim ◽  
Georgina Phillips ◽  
Tom Setchell ◽  
Sanjay Purkayastha
Keyword(s):  
Abdominal Pain ◽  
Acute Appendicitis ◽  
Iliac Fossa ◽  
Female Genital Tract ◽  
Delayed Diagnosis ◽  
Rare Presentation ◽  
Left Iliac Fossa ◽  
Imperforate Hymen ◽  
Retrograde Menstruation ◽  
Low Incidence

Imperforate hymen is a rare congenital malformation of the female genital tract. The condition poses several diagnostic challenges owing to its low incidence and often atypical presentation. Classical symptoms include amenorrhoea and cyclical abdominal pain. Delayed diagnosis leads to potentially irreversible and lifechanging sequelae including infertility, endometriosis and renal failure. A premenarchal 13-year-old girl with a background of chronic constipation presented with symptoms mimicking acute appendicitis. The underlying cause was imperforate hymen and retrograde menstruation. The diagnosis was made during diagnostic laparoscopy. As with this patient, pre-existing symptoms are often troublesome long before the true diagnosis is made. This case report highlights the importance of recognising imperforate hymen as a potential cause of acute abdominal pain in premenarchal adolescent girls. The clinical picture may present as right or left iliac fossa pain. Early identification reduces the risk of adverse complications and avoids unnecessary and potentially harmful interventions.

scholarly journals BILATERAL BREAST SARCOMA IN WOMEN WITH MACROMASTIA

2017 ◽  
Vol 4 ◽  
pp. 49-54
Author(s):  
Igor Galaychuk ◽  
Larysa Nitefor ◽  
Irina Perepyolkina
Keyword(s):  
Ultrasound Examination ◽  
Radical Surgery ◽  
Fibrous Histiocytoma ◽  
Disease Recurrence ◽  
Postoperative Treatment ◽  
Unknown Etiology ◽  
First Year ◽  
Histological Subtypes ◽  
Breast Sarcoma ◽  
Breast Malignancies

Bilateral breast sarcomas are rare malignancies of unknown etiology. Most common histological subtypes of breast sarcoma are angiosarcoma, fibrosarcoma and malignant fibrous histiocytoma. Phyllodes tumors have a predisposition to transform into sarcoma. The present clinical case describes bilateral breast fibrosarcomas in a 39 years-old female with macromastia. This peculiarity gave possibilities to do wide local excision of both tumors within 3.0 cmresection margins and preserve both breasts. Histological and immunohistochemical (ERG, CK-AE1/AE3) examination confirmed fibrosarcomas in both breast (in right – stage IIB, in left – stage IIA). Patient carried on postoperative treatment with radiation therapy (36.1 Gy for both breasts) and four cycles of adjuvant chemotherapy (doxorubicin, cisplatin, cyclophosphamide). For the first year patient had clinical and ultrasound examination every three months, then every 6 months. CT scan of chest and abdomen was every year. In seven post-op years there was no evidence of disease recurrence. Thus, macromastia gives an exceptional chance to carry out organ-sparing radical surgery in women with advanced breast malignancies.

scholarly journals Using Machine Learning for Early Prediction of Cardiogenic Shock in Patients with Acute Heart Failure

2021 ◽  
Author(s):  
Faisal Rahman ◽  
Noam Finkelstein ◽  
Anton Alyakin ◽  
Nisha Gilotra ◽  
Jeff Trost ◽  
...  
Keyword(s):  
Heart Failure ◽  
High Risk ◽  
Cardiogenic Shock ◽  
Risk Model ◽  
Acute Decompensated Heart Failure ◽  
Clinical Care ◽  
Delayed Diagnosis ◽  
Low Risk ◽  
Cohort Identification ◽  
High Risk Cohort

Abstract Objective: Despite technological and treatment advancements over the past two decades, cardiogenic shock (CS) mortality has remained between 40-60%. A number of factors can lead to delayed diagnosis of CS, including gradual onset and nonspecific symptoms. Our objective was to develop an algorithm that can continuously monitor heart failure patients, and partition them into cohorts of high- and low-risk for CS.Methods: We retrospectively studied 24,461 patients hospitalized with acute decompensated heart failure, 265 of whom developed CS, in the Johns Hopkins Healthcare system. Our cohort identification approach is based on logistic regression, and makes use of vital signs, lab values, and medication administrations recorded during the normal course of care. Results: Our algorithm identified patients at high-risk of CS. Patients in the high-risk cohort had 10.2 times (95% confidence interval 6.1-17.2) higher prevalence of CS than those in the low-risk cohort. Patients who experienced cardiogenic shock while in the high-risk cohort were first deemed high-risk a median of 1.7 days (interquartile range 0.8 to 4.6) before cardiogenic shock diagnosis was made by their clinical team. Conclusions: This risk model was able to predict patients at higher risk of CS in a time frame that allowed a change in clinical care. Future studies need to evaluate if CS analysis of high-risk cohort identification may affect outcomes.

scholarly journals The detection of delirium in admitted oncology patients: a scoping review

2022 ◽  
Author(s):  
Megan B. Sands ◽  
Ian Wee ◽  
Meera Agar ◽  
Janette L. Vardy
Keyword(s):  
Cancer Patients ◽  
Clinical Care ◽  
Assessment Method ◽  
Risk Of Bias ◽  
Screening Tools ◽  
Diagnostic Tools ◽  
Tool Selection ◽  
Oncology Patients ◽  
Case Ascertainment ◽  
Co Morbidity

Abstract Purpose Delirium leads to poor outcomes for patients and careers and has negative impacts on staff and service provision. Cancer rates in elderly populations are increasing and frequently, cancer diagnoses are a co-morbidity in the context of frailty. Data relating to the epidemiology of delirium in hospitalised cancer patients are limited. With the overarching purpose of improving delirium detection and reducing the morbidity and mortality of delirium in cancer patients, we reviewed the epidemiological data and approach to delirium detection in hospitalised, adult oncology patients. Methods MEDLINE, EMBASE, CINAHL, PsycINFO, and SCOPUS databases were searched from January 1996 to August 2017. Key concepts were delirium, cancer, inpatient oncology and delirium screening/detection. Results Of 896 unique studies identified; 91 met full-text review criteria. Of 12 eligible studies, four applied recommended case ascertainment methods to all patients, three used delirium screening tools alone or with case ascertainment tools sub-optimally applied, four used tools not recommended for delirium screening or case ascertainment, one used the Confusion Assessment Method with insufficient information to determine if it met case ascertainment status. Two studies presented delirium incidence rates: 7.8%, and 17% respectively. Prevalence rates ranged from 18–33% for general medical or oncology wards; 42–58% for Acute Palliative Care Units (APCU); and for older cancer patients: 22% and 57%. Three studies reported reversibility; 26% and 49% respectively (APCUs) and 30% (older patients with cancer). Six studies had a low risk of bias according to QUADAS-2 criteria; all studies in the APCU setting were rated at higher risk of bias. Tool selection, study flow and recruitment bias reduced study quality. Conclusion The knowledge base for improved interventions and clinical care for adults with cancer and delirium is limited by the low number of studies. A clear distinction between screening tools and diagnostic tools is required to provide an improved understanding of the rates of delirium and its reversibility in this population.

Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency

2022 ◽  
Author(s):  
Tuba Seven Menevse ◽  
Yasemin Kendir Demirkol ◽  
Busra Gurpinar Tosun ◽  
Elvan Bayramoglu ◽  
Melek Yildiz ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Molecular Diagnosis ◽  
High Throughput Sequencing ◽  
Steroid Hormone ◽  
Genetic Diagnosis ◽  
Molecular Diagnostic ◽  
Diagnostic Tools ◽  
Unknown Etiology ◽  
Control Group ◽  
Primary Adrenal Insufficiency

Abstract Background There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. Objective Investigation of the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. Design Paediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targetedgene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Setting Eighteen pediatric endocrinology clinics. Patients Forty-one patients (17 females, median age: 3 months, range: 0-8 years) with non-CAH PAI of unknown etiology. Results A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to healthy control group, patients showed lower steroid concentrations, most significantly in cortisone, cortisol, and corticosterone (p<0.0001, area under the ROC curve: 0.96, 0.88, 0.87, respectively). Plasma cortisol<4 ng/mL, cortisone<11 ng/mL, and corticosterone<0.11 ng/mL had >95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology. Conclusion Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, while they are unlikely to point out a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, while little additional benefit is expected from WES.

scholarly journals Molecular Application of Aptamers in the Diagnosis and Treatment of Cancer and Communicable Diseases

2018 ◽  
Vol 11 (4) ◽  
pp. 93 ◽  
Author(s):  
Philisiwe Molefe ◽  
Priscilla Masamba ◽  
Babatunji Oyinloye ◽  
Londiwe Mbatha ◽  
Mervin Meyer ◽  
...  
Keyword(s):  
Infectious Diseases ◽  
Diagnostic Delay ◽  
Drug Carriers ◽  
Diagnostic Tools ◽  
Rna Molecules ◽  
Diagnostic Agents ◽  
Target Molecules ◽  
Diagnostic Delays ◽  
Huge Challenge

Cancer and infectious diseases such as Ebola, HIV, tuberculosis, Zika, hepatitis, measles and human schistosomiasis are serious global health hazards. The increasing annual morbidities and mortalities of these diseases have been blamed on drug resistance and the inefficacy of available diagnostic tools, particularly those which are immunologically-based. Antibody-based tools rely solely on antibody production for diagnosis and for this reason they are the major cause of diagnostic delays. Unfortunately, the control of these diseases depends on early detection and administration of effective treatment therefore any diagnostic delay is a huge challenge to curbing these diseases. Hence, there is a need for alternative diagnostic tools, discovery and development of novel therapeutic agents. Studies have demonstrated that aptamers could potentially offer one of the best solutions to these problems. Aptamers are short sequences of either DNA or RNA molecules, which are identified in vitro through a SELEX process. They are sensitive and bind specifically to target molecules. Their promising features suggest they may serve as better diagnostic agents and can be used as drug carriers for therapeutic purposes. In this article, we review the applications of aptamers in the theranostics of cancer and some infectious diseases.

scholarly journals P163 Changes in diagnostic delay in inflammatory bowel diseases over the years: a retrospective single-centre analysis

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S220-S220
Author(s):  
M Di Ruscio ◽  
F Vernia ◽  
A Variola ◽  
G Lunardi ◽  
S Resimini ◽  
...  
Keyword(s):  
Median Time ◽  
Inflammatory Bowel Diseases ◽  
Biological Treatment ◽  
Diagnostic Delay ◽  
Delayed Diagnosis ◽  
Age Related ◽  
Time To Diagnosis ◽  
Bowel Diseases ◽  
Inflammatory Bowel ◽  
The Difference

Abstract Background Delayed diagnosis is common in inflammatory bowel diseases (IBD) and has been reported to be longer for patients with Crohn’s disease (CD) than for those with ulcerative colitis (UC). Aims of study were to assess the median time to diagnosis in IBD patients, to examine whether diagnostic delay (DD) has improved over the years and its impact on biological treatment and need for surgery. Methods A retrospective monocentric study including IBD patients living in the area of Verona (Italy), diagnosed up to 2019 and followed-up for at least 6 months at IRCCS Sacro Cuore—Don Calabria, Negrar, was carried out. DD was defined as the period (months) from symptoms onset to histological diagnosis of IBD and reported as <6 months, 6–12 months and >12 months. Results Six-hundred-six patients (255 CD; 351 UC; 308 males; 298 females) were enrolled. Median DD was 10 (IQR 2–12), 6 (IQR 1–12) and 2 (IQR 1–7) months <2000, between 2001–2010, and >2010, respectively. Median time to diagnosis was not significantly longer in CD than in UC patients (4 vs. 3 months; IQR 1- 12). No sex- or age-related differences in DD were observed. Using the Mann–Whitney test, DD was longer in patients diagnosed <2000 and between 2001–2010, than in those diagnosed >2010 (p = 0.0000 and p = 0.0004). Comparing DD <2000 and >2010, the statistical difference was reported for UC (p = 0.0000) but not for CD (p = 0.2756). Considering the use of biologics over the years, patients diagnosed between 2000–2010, and >2010 were compared (194 CD and 333 UC), reporting a significant increase in their use both for CD (30 vs. 60; p = 0.0008) and UC (28 vs. 43; p = 0.0000). DD did not influence the need for biological treatment in both diseases (p = 0.987 for CD; p = 0.433 for UC). Considering a DD <6, 6–12, and >12 percentages of patients needing biologics were respectively 53.4%, 63.6% and 56.5% for CD and 28.5%, 34.1% and 26.3% for UC. Seventy-two CD and 27 UC patients needed surgery. Analyzing the time to surgery, DD did not influence the rate of resections in CD (p = 0.6559), as well as in UC (p = 0.2792). Conclusion In our cohort, DD has significantly decreased over the last years, more for UC than CD patients. This is probably related to the increased awareness of patients on disease and of general practitioners in sending them to the specialist. Considering the published literature, UC and CD did not differ in DD; moreover age at diagnosis did not affect DD in our patients. DD did not influence the need for biological treatment or surgery rates in both diseases. These results are probably related to the difference in disease extension and severity among the patients enrolled. An analysis on targeted patients at higher risk for bowel damage is presently under way.

scholarly journals What clinical challenges are associated with diagnosing and managing work-related mental health conditions? A qualitative study in general practice

BMJ Open ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. e037734 ◽  
Author(s):  
Samantha Paubrey Chakraborty ◽  
Jacinta Dermentzis ◽  
Bianca Brijnath ◽  
Eli Ivey ◽  
Danielle Mazza
Keyword(s):  
Mental Health ◽  
General Practice ◽  
Clinical Care ◽  
Care Patient ◽  
Health Conditions ◽  
Diagnostic Tools ◽  
Workers Compensation ◽  
Compensation Scheme ◽  
Mental Health Conditions ◽  
Work Related

ObjectiveWhen providing care for patients with work-related mental health conditions (MHCs), the general practitioner’s (GP) role includes clinical care, patient advocacy and assessment of a patient’s ability to work. GPs can experience difficulty representing these competing roles. As clinical guidelines were being developed to assist GPs in providing this care, our aim was to identify the clinical challenges GPs experience when diagnosing and managing patients with work-related MHCs.DesignQualitative research.SettingThis study was conducted in general practice and workers’ compensation settings across Australia.ParticipantsTwenty-five GPs, seven psychiatrists and nine compensation scheme workers. GPs were eligible to participate if they were actively treating (or treated within the previous three years) patient(s) who had submitted a workers’ compensation claim for a MHC. Psychiatrists and compensation scheme workers were eligible to participate if they were active in these roles, as they are best placed to identify additional clinical challenges GPs themselves did not raise.MethodParticipants were invited by letter to participate in qualitative semi-structured telephone interviews. Prior to each interview, participants were asked to reflect on two case vignettes, each depicting a patient’s illness trajectory over 12 months. Data were thematically analysed using inductive and deductive techniques and then categorised by stages of clinical reasoning.ResultsParticipants reported clinical challenges across four key areas: (1) Diagnosis (identifying appropriate diagnostic tools, determining the severity and work-relatedness of a MHC, and managing the implications of labelling the patient with MHC). (2) Management (determining optimal treatment, recommending work participation). (3) Referral (ambiguity of communication pathways within compensation schemes). (4) Procedure (difficulties navigating compensation systems).ConclusionWe found that GPs experienced clinical challenges at all stages of care for people with work-related MHCs. We were also able to identify systemic and procedural issues that influence a GP’s ability to provide care for patients with work-related MHCs.

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