What Medical Problems Can Patients with Turner Syndrome Have?
Discussion Turner Syndrome (TS) is one of the most common genetic disorders in females. It was first described by Dr. Henry H. Turner in 1938. It affects 1 in 2000-2500 births and ~70,000 girls and women have TS in the United States. It is caused by the absence of all or part of the second X chromosome. The most common variation is 45X which affects about 50% of TS patients and usually has the most complications, but there are other variations. Phenotypes vary and therefore the age of diagnosis varies. Mean age of diagnosis unfortunately is 15 years. Diagnosis is made by chromosomal analysis. Haploinsufficiency of the SHOX gene is associated with short stature in Turner syndrome. Patient presentations depend on age and phenotype. Most (almost all) TS patients have short stature and primary ovarian failure, but patients can have a variety of medical problems. Patients need comprehensive management from a variety of specialists to address their medical and psychosocial needs throughout their lifetime. Recommendations for comprehensive management can be found in the To Learn More section below. Learning Point Medical problems that patients with Turner Syndrome can have include: *Short stature/growth retardation – almost 100% of patients Short stature occurs in almost all patients with an average of 8 in (20 cm) shorter than predicted mid-parental height. Final adult height has been dramatically improved with growth hormone treatment. Short stature or growth failure are ...
Authors: Alanazy MH, Barakeh RB, Asiri A, Edrees MF, Abuzinadah AR, Aljafen BN, Muayqil T Abstract Only a small fraction of patients with acute ischemic stroke receive intravenous thrombolysis (IVT). We sought to assess barriers and practice patterns in using IVT for acute ischemic stroke among neurologists in Saudi Arabia. An electronic survey was sent to all neurologists registered with the Saudi Commission for Health Specialties. A total of 148 (77.5%) neurologists responded. The most common reported barriers for IVT administration were delayed presentation to hospitals (82.4%) and unclear time of symptom onset ...
Conclusion: In the hands of an expert, EUS-guided biliary drainage with the use of LAMS is an efficacious and safe option for patients with distal malignant biliary stricture, not amenable to ERCP.Digestion 2018;98:1 –10
Conclusions: The sustained effort to self-manage chronic pain could be exhausting, and motivation could wane over time following intervention. Providing intermittent support in the form of booster sessions and peer support groups may be important. Person-centered care via shared decision making and guided problem solving is essential to facilitating ongoing self-management. PMID: 29669089 [PubMed - in process]
Introduction: Necrobiosis lipoidica (NL) is an idiopathic, chronic granulomatous disease linked to diabetes mellitus (DM). We aim to identify comorbidities and complications of NL. Methods: A retrospective study was performed within Mayo Clinic from 1992 to 2017. 328 cases were identified using International Classification of Diseases (ICD) code diagnosis of NL and a clinical diagnosis of NL by a dermatologist or histopathological diagnosis consistent with NL. A chart review recorded lifestyle, comorbidities, and complications.
Incidence of nonmelanoma skin cancer (NMSC) exceeds all other types of cancer combined. Cumulative and intermittent sun exposure are known risk factors for the development of NMSC. Since obesity has been shown to contribute to cancer incidence, we hypothesized that heavier individuals (BMI> 25 kg/m2) have increased the risk of NMSC when accounting for sun exposure. Using the Womens Health Initiative (WHI) cohort, we investigated the risk of NMSC with sun exposure and anthropometric measures. We analyzed the incidence of NMSC associated with sun exposure: reported duration (behavioral) and intensity (geographic location)...
This study identified major epitopes for DPP4i-BP autoAbs using 10 sera without anti-NC16A autoAbs.
Alopecia areata (AA) is a common autoimmune condition of the skin that causes hair loss from the scalp and body. Recent studies have proposed a relationship between AA and comorbid psychiatric conditions including anxiety and depression. Our aim was to explore the association between depression and AA prospectively. A cohort of 56,079 female nurses from Nurses Health Study (NHS) were followed up from 2002 to 2012 to investigate whether a previous diagnosis of depression (n=36,083) was associated with the risk of self-reported new-onset AA (n=130).
Atopic dermatitis (AD) has been associated with multiple comorbid diseases. However, the relationship between AD severity and disease comorbidities is complex. A cross-sectional US population-based study of 8,217 adult was performed using a structured questionnaire. A diagnosis of AD was determined using UK Diagnostic Criteria for AD (n=602). AD severity was assessed using PO-SCORAD, POEM, DLQI and self-reported global AD severity. Logistic regression and structural equation models (SEM) were used to explore associations of AD with allergic, cardiometabolic, anxiety/depression and autoimmune disease.
Infection is the second leading cause of death in patients with psoriasis, behind cardiovascular disease. Respiratory infections, including influenza, are of special importance because they represent a common cause of morbidity and mortality and may be preventable through vaccination. Universal influenza vaccination is recommended annually, but little is known about vaccination rates in psoriatic patients in the United States. We conducted a cohort study of adults in OptumInsight's Clinformatics Data Mart to examine influenza vaccine rates in patients with psoriasis compared to adults with other chronic illnesses (hyperten...
Bullous pemphigoid (BP) is the most common autoimmune blistering skin disease. It causes intense pruritus and blistering, which have extensive effects on patients quality of life. The incidence of BP is increasing, although it is not yet known why. In recent years, a theory has emerged that BP may be triggered by the use of dipeptidyl peptidase 4 (DPP-4) inhibitors in the treatment of diabetes. Our nationwide study was designed to investigate the association between the use of diabetes drugs (excluding insulin) and BP, by analysis of Finnish registry data for 3397 BP patients and 12941 patients with basocellular carcinoma as controls.
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