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1.
Am J Surg ; 228: 122-125, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37640639

ABSTRACT

BACKGROUND: The purpose of this study was to qualitatively explore patient-reported barriers to surgery for primary hyperparathyroidism (PHPT) and identify actionable interventions to improve access to surgical care. METHODS: We recruited forty-nine patients in an endocrine surgery clinic at a large, academic medical to participate in an 11- question phone interview. All interviewees underwent parathyroidectomy for primary hyperparathyroidism. Responses were recorded and a codebook of qualitative themes, blinded to patient race and sex, was created by 3 independent reviewers. Comments were subsequently sorted into the codebook with patient demographic information. RESULTS: Patients that experienced delays in parathyroidectomy most commonly cited "issues with the referral process" and "missed diagnosis" as the cause. Patients were asked to identify the most challenging part about the surgery process. Commonly evoked themes among patients of both races and sexes included "transportation" and "financial" with subthemes of "no ride," "distance from surgeon," "insurance," and "difficulty taking time off work." Patients were asked to name actionable interventions to improve access to surgical care. The most commonly evoked theme involved "support systems," with subthemes of "transportation assistance," "financial," and "patient advocacy." Physician factors were also commonly evoked among patients of both races with subthemes of "knowledge", "communication," and "listening." CONCLUSION: PHPT patients cited multiple barriers to undergoing surgery. Future work can focus on examining these questions with a larger patient cohort and examining delays at the referral and diagnosis stage, which was most commonly cited by our respondents.


Subject(s)
Hyperparathyroidism, Primary , Humans , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/surgery , Referral and Consultation , Parathyroidectomy , Missed Diagnosis
2.
Eur J Orthop Surg Traumatol ; 34(1): 615-620, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37667112

ABSTRACT

PURPOSE: To assess if pes anserinus tenotomy (PAT) during definitive open reduction and internal fixation (ORIF) of tibial plateau fractures is associated with a decreased risk of surgical site infection (SSI) and other postoperative complications. METHODS: A retrospective review of all adults who underwent ORIF for tibial plateau fractures from April 2005 to February 2022 at single level 1 trauma center was performed. Patients who had a medial approach to the plateau with minimum three-month follow-up were required for inclusion. All patients with fasciotomy for compartment syndrome or with traumatically avulsed or damaged pes anserinus prior to ORIF were excluded. Two groups were created: those who received a pes anserinus tenotomy with repair (PAT group) and those whose pes anserinus were spared and left intact (control group). Patient demographics, injury and operative characteristics, and surgical outcomes were compared. The primary outcomes were rates of deep and superficial SSI. RESULTS: The PAT group had significantly lower rates of deep SSI (9.2% vs. 19.7%, P = 0.009), superficial SSI (14.2% vs. 26.5%), P = 0.007), and any SSI (15.8% vs. 28.9%, P = 0.005). Multiple logistic regression showed that heart failure (aOR = 7.215, 95% CI 2.291-22.719, P < 0.001), and presence of open fracture (aOR = 4.046, 95% CI 2.074-7.895, P < 0.001) were independently associated with increased odds of deep SSI, while PAT was associated with a decreased odds of deep SSI (aOR = 0.481, 95% CI 0.231-0.992, P = 0.048). PAT had significantly lower rates of unplanned return to the operating room (20.8% vs. 33.7%, P = 0.010) and implant removal (10.0% vs. 18.0%, P = 0.042). CONCLUSION: While these data do not allow for discussion of functional recovery or strength, pes anserinus tenotomy was independently associated with significantly lower rates of infection, unplanned operation, and implant removal. LEVEL OF EVIDENCE: Level III.


Subject(s)
Tibial Fractures , Tibial Plateau Fractures , Adult , Humans , Surgical Wound Infection/etiology , Surgical Wound Infection/surgery , Tenotomy/adverse effects , Fracture Fixation, Internal/adverse effects , Risk Factors , Retrospective Studies , Tibial Fractures/complications , Tibial Fractures/surgery
3.
BMJ Case Rep ; 16(1)2023 Jan 12.
Article in English | MEDLINE | ID: mdl-36634992

ABSTRACT

Systemic lupus erythematosus (SLE) is an autoimmune disease with varying dermatological findings. We review a unique presentation of SLE with a literature review. A previously healthy early adolescent female presented with painful, oral mucosal bullae filled with sanguineous fluid. She endorsed a tender right knee, but examination revealed no additional abnormalities. CBC demonstrated severe pancytopaenia. Further workup, including Coombs positive RBCs and positive ANA, anti-Smith, and anti-dsDNA antibodies, confirmed Lupus as the aetiology of this patient's presentation. A form of blistering SLE and resultant thrombocytopaenia was likely responsible for the patient's oral manifestations. After receiving 60 g intravenous immunoglobulin and 3 days high-dose pulse corticosteroids, her dermatological symptoms resolved. Although cases of blistering SLE with mucosal bullae have been described in the literature, this is the first documented case of haemorrhagic mucosal bullae as the presenting symptom of thrombocytopaenia in SLE in a paediatric patient.


Subject(s)
Lupus Erythematosus, Systemic , Thrombocytopenia , Adolescent , Humans , Female , Child , Blister/etiology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/diagnosis , Lupus Erythematosus, Systemic/drug therapy , Hemorrhage , Thrombocytopenia/diagnosis , Thrombocytopenia/etiology
6.
J Prim Prev ; 35(3): 193-201, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24682887

ABSTRACT

Less than half of US adults and two-thirds of US high school students do not meet current US guidelines for physical activity. We examined which factors promoted physicians' and medical students' confidence in counseling patients about physical activity. We established an online exercise survey targeting attending physicians, resident and fellow physicians, and medical students to determine their current level of physical activity and confidence in counseling patients about physical activity. We compared their personal level of physical activity with the 2008 Physical Activity Guidelines of the US Department of Health and Human Services (USDHHS). We administered a survey in 2009 and 2010 that used the short form of the International Physical Activity Questionnaire. A total of 1,949 individuals responded to the survey, of whom 1,751 (i.e., 566 attending physicians, 138 fellow physicians, 806 resident physicians, and 215 medical students) were included in this analysis. After adjusting for their BMI, the odds that physicians and medical students who met USDHHS guidelines for vigorous activity would express confidence in their ability to provide exercise counseling were more than twice that of physicians who did not meet these guidelines. Individuals who were overweight were less likely to be confident than those with normal BMI, after adjusting for whether they met the vigorous exercise guidelines. Physicians with obesity were even less likely to express confidence in regards to exercise counseling. We conclude that physicians and medical students who had a normal BMI and met vigorous USDHHS guidelines were more likely to feel confident about counseling their patients about physical activity. Our findings suggest that graduate medical school education should focus on health promotion in their students, as this will likely lead to improved health behaviors in their students' patient populations.


Subject(s)
Exercise , Health Behavior , Health Promotion/methods , Physicians/psychology , Students, Medical/psychology , Adult , Aged , Attitude of Health Personnel , Body Mass Index , Counseling/statistics & numerical data , Guideline Adherence/statistics & numerical data , Health Care Surveys , Humans , Internet , Logistic Models , Middle Aged , Physicians/statistics & numerical data , Practice Patterns, Physicians'/statistics & numerical data , Self Efficacy , Self Report , Students, Medical/statistics & numerical data , United States , United States Dept. of Health and Human Services , Young Adult
7.
Phys Sportsmed ; 41(4): 86-92, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24231600

ABSTRACT

OBJECTIVE: Physicians who are physically fit have a higher likelihood of counseling their patients about physical activity. We sought to determine if the amount of physical activity in physicians and medical students differs from the general adult population of the United States and if geographic differences in physical activity levels exist. METHODS: A cross-sectional survey was distributed to physicians and medical students throughout the United States to determine their level of physical activity according to US Department of Health and Human Services (DHHS) 2008 guidelines; data were collected from participants from June 2009 through January 2010. Our data set was compared with physical activity data from the Centers for Disease Control and Prevention (CDC) and we used geographic regions defined by the US Census Bureau. RESULTS: Our survey respondents contained 631 attending physicians, 159 fellow physicians, 897 resident physicians, and 262 medical students. Only 64.5% of the general US adult population meets DHHS guidelines for physical activity, but 78% of the survey participants fulfilled the guidelines. The percentage of US adults who do not engage in leisure-time physical activity is 25.4% compared with 5.8% of survey participants. Survey respondents in the southern region had the lowest physical activity levels and participants in the western region had the highest levels. CONCLUSION: Physicians and medical students engage in more physical activity than the general US adult population. Regional differences in the general population's physical activity also persisted in physicians and medical students. Therefore, physicians who complete less physical activity may be less likely to encourage patients to engage in physical activity in geographic areas where the adult population is less active.


Subject(s)
Health Behavior , Motor Activity , Physicians/statistics & numerical data , Students, Medical/statistics & numerical data , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Residence Characteristics , Surveys and Questionnaires , United States/epidemiology , Young Adult
8.
J S C Med Assoc ; 109(4): 116-20, 2013 Dec.
Article in English | MEDLINE | ID: mdl-24908910

ABSTRACT

OBJECTIVE: This study was developed as a pilot study to determine if targeted interventions regarding increasing physical activity level through the use of pedometers and fitness DVDs would result in a decrease in BMI in overweight or obese children. METHODS: 24 children aged 4-17 taking part in "Moving and Losing" were randomized to (1) Control Group; (2) Pedometer Group; (3) DVD Group; (4) Pedometer + DVD Group and asked to complete self-report physical activity logs at visit one and two. Baseline, midpoint, and endpoint weight, height, Body Mass Index (BMI) were measured for outcome variables. RESULTS: Almost half (42%) of participants turned in their activity logs and pedometers at midpoint, but at endpoint less than a quarter of participants turned in their pedometers and/or activity logs. BMI increased by 4.1% in the Control Group, 8.7% in the Pedometer Group, and 6.7% in the DVD Group. BMI decreased by 0.3% in the Pedometer + DVD Group. CONCLUSION: The use of pedometers and fitness DVDs may not be culturally acceptable in African-American female children and adolescents from South Carolina who are overweight or obese. Further studies should look into in-depth needs assessments and planning processes that include participants as stakeholders.


Subject(s)
Exercise , Pediatric Obesity/prevention & control , Walking , Adolescent , Child , Child, Preschool , Female , Humans , Male , Monitoring, Ambulatory/instrumentation , Pilot Projects , Weight Loss
10.
Br J Sports Med ; 46(5): 360-4, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22194220

ABSTRACT

OBJECTIVE: Evidence suggests that the level of physical activity of physicians can be correlated directly with physician counselling patterns about this behaviour. Our objective was to determine if medical students, resident and fellow physicians and attending physicians meet the physical activity guidelines set forth by the US Department of Health and Human Services. METHODS: A representative cross-sectional web-based survey was conducted in June 2009-January 2010 throughout the USA (N=1949). Using the short form of the International Physical Activity Questionnaire, the authors gathered demographical data and information related to physical activity, the level of training, the number of work hours per week, body mass index (BMI), confidence about counselling about physical activity and frequency with which the physical activity is encouraged to his/her patients. RESULTS: Based on the 1949 respondents, attending physicians (84.8%) and medical students (84%) were more likely than resident (73.2%) and fellow physicians (67.9%) to meet physical activity guidelines. CONCLUSION: Physicians and medical students engage in more physical activity and tend to have a lower BMI than the general population. Resident and fellow physicians engage in less physical activity than attending physicians and medical students.


Subject(s)
Exercise/physiology , Physicians/statistics & numerical data , Students, Medical/statistics & numerical data , Adult , Aged , Body Mass Index , Cross-Sectional Studies , Female , Health Surveys , Humans , Internet , Male , Middle Aged , Practice Guidelines as Topic , United States/epidemiology , Young Adult
11.
South Med J ; 104(11): 752-6, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22024785

ABSTRACT

OBJECTIVES: Vaso-occlusive events in pediatric sickle cell disease (SCD) may cause various renal complications and lead to renal failure. We describe the renal conditions that develop among young patients with SCD and the factors associated with the prevalence of these nephropathies. MATERIALS AND METHODS: Medicaid medical and pharmacy claims for an 11-year period were used to identify 2194 pediatric patients with SCD (HbSS homozygous). Survival analysis identified the most significant predictors of acute kidney injury and chronic renal failure, using demographics, SCD severity and pain medication, comorbid hypertension, hematuria, and proteinuria as the initial covariates. RESULTS: Prevalence of renal complications in our cohort was found to be relatively low, predominantly hematuria (6.3%) and proteinuria (3.2%). The multivariable analysis indicated that earlier development of acute kidney injury was significantly associated with older age (adjusted hazard ratio [aHR] 1.16, confidence interval [CI] 1.06-1.27), preexisting hypertension (aHR 3.05, CI 1.09-8.60), and preexisting hematuria (aHR 2.87, CI 1.05-7.93). Earlier development of chronic renal failure was significantly associated with older age (aHR 1.20, CI 1.08-1.32), preexisting hematuria (aHR 4.67, CI 1.57-13.94), and preexisting proteinuria (aHR 8.25, CI 2.12-10.38). CONCLUSIONS: These prevalence findings are novel in the US SCD pediatric population. The predictors of nephropathies identified in these children confirm clinical expectations. In addition, they suggest not only that pediatric nephrologists should be consulted earlier in the treatment of patients with SCD who are diagnosed as having comorbid hypertension or who develop hematuria or proteinuria during the course of their SCD treatment but also that both hydroxyurea and angiotensin-converting enzyme inhibitor therapies may be better used in these cases.


Subject(s)
Anemia, Sickle Cell/complications , Kidney Diseases/etiology , Adolescent , Age Factors , Anemia, Sickle Cell/therapy , Child , Child, Preschool , Cohort Studies , Female , Hematuria/epidemiology , Hematuria/etiology , Humans , Infant , Kaplan-Meier Estimate , Kidney Diseases/epidemiology , Kidney Diseases/therapy , Male , Medicaid , Prevalence , Proportional Hazards Models , Proteinuria/epidemiology , Proteinuria/etiology , Renal Insufficiency/epidemiology , Renal Insufficiency/etiology , Retrospective Studies , Risk Factors , South Carolina , Treatment Outcome , United States
12.
Am J Hematol ; 86(1): 82-4, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20949441

ABSTRACT

In a cohort of 2,194 children with sickle cell disease (SCD) treated in community-based services, we explored the types of medications used to treat vaso-occlusive (VOC) pain episodes, and the relative effectiveness of nonsteroidal anti-inflammatory drugs (NSAIDs), opioids, and adjunctive antidepressants or anticonvulsant medications on reducing acute VOC pain visits over time. Pharmacologic treatments for VOC pain consisted mainly of NSAIDs and weak opioids. Significantly more patients with more than 3 inpatient or ER VOC pain visits during their first year of SCD treatment were prescribed stronger opioids, SSRIs, SNRI/heterocyclics, and anticonvulsants. Prescription of both stronger opioids and SSRI antidepressants or anticonvulsants was significantly associated with lower cumulative rates of acute VOC pain visits over time. Using an observational study design and existing clinical data, these findings are intended to illustrate the potential clinical advantages of combining adjunctive antidepressants or anticonvulsants with primary pain medications for relief of acute VOC pain over time.


Subject(s)
Anemia, Sickle Cell/complications , Anemia, Sickle Cell/drug therapy , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Pain/drug therapy , Pain/etiology , Adolescent , Child , Child, Preschool , Cohort Studies , Humans
13.
Ann Hematol ; 90(2): 145-50, 2011 Feb.
Article in English | MEDLINE | ID: mdl-20714723

ABSTRACT

In children with sickle cell disease (SCD), adenotonsillar hypertrophy or recurrent tonsillitis are frequently linked with an increased risk of obstructive sleep apnea, cerebrovascular ischemia, or frequent pain episodes and often require an adenoidectomy and/or tonsillectomy. Interventions designed to prevent these complications, control vaso-occlusive pain episodes, and avoid hospitalizations may reduce the significant personal and economic burden of SCD. This study compares episode recurrence and treatment costs for cerebrovascular ischemia, vaso-occlusive pain, acute chest syndrome (ACS), and obstructive sleep apnea in children who had an adenotonsillectomy (A/T surgery, N = 256; 11.7%) and a matched cohort of those who did not (N = 512; 23.3%) from a cohort of 2,194 children and adolescents with SCD from South Carolina's Medicaid system. A/T surgery was associated with a significantly reduced rate of visits over time for obstructive sleep apnea and cerebrovascular ischemia (e.g., stroke, transient ischemic attacks), but not with any change in the rate of visits for vaso-occlusive pain or ACS/pneumonia visits. The rate of mean acute (emergency and inpatient) service costs was significantly decreasing over time after an increase about the time the A/T surgery was performed. The cost-effectiveness of adenoidectomy and/or tonsillectomy for treating obstructive sleep apnea and preventing cerebrovascular ischemia without increasing vaso-occlusive pain episodes or long-term acute service costs in routine clinical practice settings was demonstrated. The matched control group of SCD patients without A/T surgery contained more patients with severe vaso-occlusive pain episodes, ACS visits, and higher mean total costs over time and appears to represent a different phenotype of children with SCD.


Subject(s)
Acute Chest Syndrome/prevention & control , Adenoidectomy/economics , Anemia, Sickle Cell , Brain Ischemia/prevention & control , Health Care Costs/statistics & numerical data , Sleep Apnea, Obstructive/prevention & control , Tonsillectomy/economics , Acute Chest Syndrome/economics , Acute Chest Syndrome/etiology , Acute Chest Syndrome/surgery , Adolescent , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/economics , Anemia, Sickle Cell/surgery , Brain Ischemia/economics , Brain Ischemia/etiology , Brain Ischemia/surgery , Child , Cost-Benefit Analysis , Ethnicity , Female , Humans , Male , Medicaid , Pain/economics , Pain/etiology , Pain/prevention & control , Pain/surgery , Recurrence , Sleep Apnea, Obstructive/economics , Sleep Apnea, Obstructive/etiology , Sleep Apnea, Obstructive/surgery , South Carolina , Treatment Outcome , United States
14.
Pediatr Blood Cancer ; 56(1): 90-4, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20922765

ABSTRACT

BACKGROUND: More evidence of the safety and effectiveness of hydroxyurea (HU) in community-based cohorts of pediatric patients with sickle cell disease (SCD) are needed. The association of HU with organ-specific clinical complications and adverse events is examined herein. METHODS: Medicaid medical and pharmacy claims for the calendar years January 1996 through December 2006 were used to identify a cohort of children and adolescent patients (ages 17 and under) with a diagnosis of SCD (homozygous) who were treated with HU and developed disparate complications or adverse side effects. Of the 2,194 pediatric SCD patients identified, 175 (8%) were treated with HU. Incidence density matching (1 case: 2 controls) was used to select the control group on age, gender, ethnicity, time in the Medicaid data set, and baseline severity resulting in a total study cohort of 523 cases. RESULTS: Organ-specific complications were more likely in the HU-treated group compared to non-HU-treated group: cardiovascular complications (odds ratio [OR] = 3.15; confidence interval [CI] = 1.97-5.03); hepatic complications (OR 5.41; CI = 3.54-8.27); renal complications (OR 5.09; CI 3.37-7.67); and pulmonary complications (OR 4.07; CI 1.88-8.79). Many of these conditions began developing before HU was prescribed. Developing three or more complications was also more likely in the HU group (27.4% vs. 7.0%, P < 0.0001). CONCLUSIONS: Extending previous findings to routine practice settings, HU is being administered to the most severely ill children with SCD, many of whom had already started to develop organ-specific complications, but it is not associated with development of serious adverse events.


Subject(s)
Anemia, Sickle Cell/complications , Hydroxyurea/adverse effects , Adolescent , Anemia, Sickle Cell/drug therapy , Antisickling Agents/adverse effects , Antisickling Agents/therapeutic use , Cardiovascular Diseases , Child , Child, Preschool , Data Collection , Female , Homozygote , Humans , Hydroxyurea/therapeutic use , Infant , Infant, Newborn , Kidney Diseases , Liver Diseases , Lung Diseases , Male , Medicaid , United States
15.
Am J Hematol ; 85(10): 795-7, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20645429

ABSTRACT

In a cohort of children with sickle cell disease (SCD) and vaso-occlusive pain visits served through South Carolina's Medicaid system over a 6-year period (N 5 523), we compared the number of vaso-occlusive pain or acute chest syndrome (ACS)/pneumonia episodes, and outpatient or acute service costs in those treated or not treated with hydroxyurea (HU). HU may be an underused intervention for SCD in this practice setting, for a variety of reasons. Treatment with HU varied greatly, appears to have been administered to more severely ill children, but was associated with a reduction in vaso-occlusive pain episodes, hospitalizations,and total costs of care within the HU cohort during a 2-3 year period of active HU treatment. Those receiving care through specialized SCD clinics were less likely to have pain or acute care episodes(RR 5 0.79, P < 0.0001; RR 5 0.90, P 5 0.01). Compared with the non-HU cohort, the HU group evinced a significantly higher risk of experiencing vaso-occlusive pain episodes (RR 5 3.32, P < 0.0001)and ACS/pneumonia episodes (RR 5 2.66, P < 0.0001), and higher outpatient,inpatient/emergency, and total service costs (RR 5 1.85, 2.11,2.10, and P < 0.0001, respectively) over time. HU is clinically effective in reducing pain episodes, hospitalizations, and total care costs, but those receiving it might be more severely ill.


Subject(s)
Anemia, Sickle Cell/drug therapy , Hospitalization/statistics & numerical data , Hydroxyurea/therapeutic use , Pain/prevention & control , Acute Chest Syndrome/economics , Acute Chest Syndrome/epidemiology , Acute Chest Syndrome/etiology , Acute Chest Syndrome/prevention & control , Adolescent , Anemia, Sickle Cell/complications , Anemia, Sickle Cell/economics , Anemia, Sickle Cell/epidemiology , Child , Child, Preschool , Cohort Studies , Cost-Benefit Analysis , Costs and Cost Analysis , Emergency Service, Hospital/economics , Emergency Service, Hospital/statistics & numerical data , Female , Hospital Costs , Hospitalization/economics , Humans , Hydroxyurea/economics , Male , Medicaid/statistics & numerical data , Outpatient Clinics, Hospital/economics , Outpatient Clinics, Hospital/statistics & numerical data , Pain/economics , Pain/epidemiology , Pain/etiology , Poverty , South Carolina/epidemiology , United States
18.
South Med J ; 98(11): 1130-1, 2005 Nov.
Article in English | MEDLINE | ID: mdl-16351034

ABSTRACT

Empyema necessitatis is a rare complication of empyema characterized by a spontaneous extension of pus from the pleural space into adjacent soft tissues. It is uncommon in the pediatric population and is usually caused by Mycobacterium tuberculosis. This report describes the youngest reported case of empyema necessitatis. The clinical examination and CT scan are diagnostic. The causative organism was methicillin-resistant Staphylococcus aureus, which has not been previously reported. Treatment involves drainage of the abscess and appropriate antimicrobial therapy.


Subject(s)
Empyema, Pleural/diagnosis , Methicillin Resistance , Staphylococcal Infections/diagnosis , Staphylococcus aureus/drug effects , Abscess/drug therapy , Abscess/microbiology , Empyema, Pleural/drug therapy , Empyema, Pleural/microbiology , Humans , Infant , Male , Staphylococcal Infections/drug therapy , Thoracic Wall
20.
Prim Care ; 31(3): 497-508, viii, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15331244

ABSTRACT

This article presents an approach to "thinking genetically" in primary care. Busy practitioners often lack the time to consider thoroughly whether their patients have an underlying genetic diagnosis. To assist the primary care clinician, a working group of the Genetics in Primary Care Faculty Development Initiative developed a simple mnemonic, Family GENES, that alerts the clinician to consider genetic causes in the differential diagnosis. In addition to family history, the red flags include Groups of anomalies, Early or Extreme presentations of common diseases, Neurodevelopmental or Neurodegenerative conditions, Exceptional or unusual pathology, and Surprising laboratory values. This article discusses the components of the mnemonic, provides examples, and gives guidelines to appropriate actions once the possibility of a genetic diagnosis has been raised.


Subject(s)
Congenital Abnormalities/diagnosis , Genetic Diseases, Inborn/diagnosis , Genetic Predisposition to Disease , Genetics, Medical/methods , Primary Health Care , Congenital Abnormalities/physiopathology , Genetic Diseases, Inborn/physiopathology , Humans , Information Services , Internet
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