Hypophosphatasia: A missed diagnosis

Abstract Introduction Esophageal atresia (EA) is associated with duodenal atresia (DA) in 3 to 6% of cases. The management of this association is controversial and literature is scarce on the topic. Materials and Methods We aimed to (1) review the patients with EA + DA treated at our institution and (2) systematically review the English literature, including case series of three or more patients. Results Cohort study: Five of seventy-four patients with EA had an associated DA (6.8%). Four of five cases (80%) underwent primary repair of both atresia, one of them with gastrostomy placement (25%). One of five cases (20%) had a delayed diagnosis of DA. No mortality has occurred. Systematic Review: Six of six-hundred forty-five abstract screened were included (78 patients). Twenty-four of sixty-eight (35.3%) underwent primary correction of EA + DA, and 36/68 (52.9%) underwent staged correction. Nine of thirty-six (25%) had a missed diagnosis of DA. Thirty-six of sixty-eight underwent gastrostomy placement. Complications were observed in 14/36 patients (38.9 ± 8.2%). Overall mortality reported was 41.0 ± 30.1% (32/78 patients), in particular its incidence was 41.7 ± 27.0% after a primary treatment and 37.0 ± 44.1% following a staged approach. Conclusion The management of associated EA and DA remains controversial. It seems that the staged or primary correction does not affect the mortality. Surgeons should not overlook DA when correcting an EA.

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Factors Associated with Clinician Adherence to USPSTF Diabetes Screening Recommendations

Journal of Primary Care & Community Health ◽

10.1177/21501327211016579 ◽

2021 ◽

Vol 12 ◽

pp. 215013272110165

Author(s):

Elaine Seaton Banerjee ◽

Kyle Shaak ◽

Nicole Burgess ◽

Melanie Johnson ◽

Beth Careyva

Keyword(s):

Gestational Diabetes ◽

Adult Population ◽

Correct Diagnosis ◽

Retrospective Chart Review ◽

Diabetes Screening ◽

Factors Associated ◽

The Us ◽

History Of ◽

Missed Diagnosis ◽

Significant Health

Introduction/Objectives: Diabetes and prediabetes impact nearly half of the US adult population and are associated with significant health risks but may be underdiagnosed. Effective screening may improve diagnosis and give patients opportunity to manage their disease. The purpose of this study was to determine screening rates, identify characteristics predictive of screening, and evaluate correct diagnosis of diabetes and prediabetes. Methods: Retrospective chart review of 71 433 patients eligible for diabetes screening, defined by completing A1c test within the 3-year study period. Results: A total of 31.3% of eligible patients received diabetes screening. Factors associated with screening include older age, female sex, non-white race, Hispanic ethnicity, Medicare or Medicaid insurance, higher BMI, and having a medical comorbidity. History of prediabetes or gestational diabetes were the strongest predictors for diabetes screening, but history of gestational diabetes was under-documented. Of those screened, 10.4% had a result consistent with diabetes and 51.8% had a result consistent with prediabetes. However, 52.9% of these patients had a missed diagnosis. Conclusions: Findings of this study indicate the need for uniform coverage for diabetes screening for all insurances, increased documentation of gestational diabetes to improve screening for patients with this history, and improving accurate diagnosis after screening is completed.

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781. C.difficile PCR+/ Toxin EIA- treat or not treat? A clinician survey

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.971 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S435-S436

Author(s):

Sarath G Nath ◽

Francesca Lee ◽

Anjali Bararia ◽

Ank E Nijhawan

Keyword(s):

Clinical Judgment ◽

Clinical Care ◽

Cost Effective ◽

False Positive Diagnosis ◽

Missed Diagnosis ◽

Stool Samples ◽

Polymerase Chain ◽

Low Sensitivity ◽

Survey Responses ◽

And Training

Abstract Background C.difficile Toxin Polymerase Chain Reaction (C.diff PCR) and C.difficile Toxin Enzyme Immunoassays (toxin EIA) are commonly used tests to diagnose Clostridoides difficile infection (CDI). C.diff PCR cannot differentiate between colonization and infection, leading to a higher false-positive diagnosis of CDI. Toxin EIA has low sensitivity leading to a missed diagnosis of CDI. In patients with C.diff PCR positive(+) and Toxin EIA negative(-), clinical judgment is often needed regarding the decision to treat or not to treat. C.diff cytotoxic assay (CCA), is a more sensitive method to detect the toxin but is time-consuming and not readily available. Methods Between 6/2019 and 12/2019, 83 patients who were admitted to the hospital, met our inclusion criteria (C.diff PCR+/EIA-). Clinicians who cared for these patients were contacted and surveyed with a predesigned questionnaire evaluating the rationale of treatment. Also, a simultaneous medical records review was done to ensure consistency. Along with this C.diff PCR+/EIA- stool samples were sent to ARUP laboratories for CCA. The CCA results were not available for clinicians and did not impact clinical care. Average cost for a CCA assay was $29 Results Demographics of the clinicians were variable (Table 1). Several parameters were considered when making decisions regarding treatment and GI/ID were frequently involved (figure 1). Among the 83 patients, 41(49%) were CCA (+) and 42(51%) were CCA (-). 48 of 83 (58%) patients received treatment for CDI. 25 of 48 (52%) patients who were treated were CCA positive while 23 of 48 (48%) patients were CCA negative. Among the untreated patients, 16/35 (46%) were CCA+ while 19/35(54%) were CCA-. There was no statistically significant correlation between clinical judgment and CCA assay results (p: 0.56 on the Chi test). Demographics of the clinicians Clinician survey responses CDI Treatment and by CCA positivity Conclusion Clinicians regardless of their background and training face challenges with the treatment of C.diff PCR+/EIA- patients. Patient outcomes based on the incorporation of CCA assay into an algorithm for C.diff PCR+/EIA- patients, need to be evaluated. But it has a potential role in stopping unnecessary CDI treatment as well as avoidance of missed treatment opportunities while possibly also being cost-effective. Disclosures Ank E. Nijhawan, MD, MPH, Gilead (Grant/Research Support, Scientific Research Study Investigator, Research Grant or Support)

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Sporadic Creutzfeldt-Jakob Disease: Diagnosing Typical and Atypical Presentations under Limited Circumstances

Dementia and Geriatric Cognitive Disorders ◽

10.1159/000514470 ◽

2021 ◽

pp. 1-7

Author(s):

Shazma Khan ◽

Sara Khan

Keyword(s):

Developing Countries ◽

Brain Mri ◽

Tertiary Care ◽

Rapid Onset ◽

Spongiform Encephalopathy ◽

Care Hospital ◽

Jakob Disease ◽

The Central Nervous System ◽

Missed Diagnosis ◽

Atypical Presentations

Introduction: Sporadic Creutzfeldt-Jakob disease (sCJD) is a transmissible disorder of the central nervous system caused by the transformation of normal prion protein into an abnormal misfolded form. The process begins spontaneously and runs a vicious cycle to cause spongiform encephalopathy, rapidly resulting in death. Amply described in the western literature, CJD is scarcely reported in Asia due to certain limitations including missed diagnosis, under-reporting, and rarity of the disease. Brain MRI, electroencephalogram, cerebrospinal fluid testing, and biopsy of the infected brain tissue support the diagnosis in cases of clinical suspicion. However, the diagnosis can still be made with limited available resources in developing countries. Method: A review of CJD cases evaluated in the neurology department of a tertiary care hospital in Pakistan was done from 2002 to 2018. Results: Eleven cases labeled as sCJD are identified based on the European MRI-CJD consortium criteria. This is the first study on CJD from Pakistan, which includes both the typical and atypical presentations. Conclusion: Even with limited testing available, the diagnosis of CJD can be made with confidence in the developing countries, provided the suspicion is kept high in cases of rapid onset dementia and acute behavioral changes.

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ACE inhibitor induced visceral angioedema: an elusive diagnosis

BMJ Case Reports ◽

10.1136/bcr-2020-236391 ◽

2020 ◽

Vol 13 (11) ◽

pp. e236391 ◽

Cited By ~ 1

Author(s):

Metlapalli Venkata Sravanthi ◽

Sharmil Suma Kumaran ◽

Nishant Sharma ◽

Bojana Milekic

Keyword(s):

Adverse Effect ◽

African American ◽

Abdominal Pain ◽

Ace Inhibitors ◽

Ace Inhibitor ◽

Lower Abdominal Pain ◽

Supportive Treatment ◽

Newly Diagnosed ◽

Radiographic Findings ◽

Missed Diagnosis

ACE inhibitors are widely used and well-tolerated drugs. Angioedema is a well-known adverse effect, which involves the viscera rarely. This is a case of a 44-year-old African-American man with newly diagnosed hypertension, who presented with lower abdominal pain and diarrhoea. Based on the clinical picture and radiographic findings, lisinopril-induced intestinal angioedema was diagnosed. He recovered with supportive treatment, and the lisinopril was permanently discontinued. The mechanism of angioedema is thought to be the inhibition of ACE-mediated degradation of bradykinin, which is a peptide responsible for vasodilation and increased vascular permeability. While the external angioedema is unmistakable, intestinal angioedema has a relatively non-specific presentation and chronology, often leading to missed diagnosis and unnecessary interventions. Most common symptoms are abdominal pain and diarrhoea. Characteristic radiographic findings include ‘doughnut sign’ and ‘stacked coin’ appearance. Treatment is supportive. ACE inhibitors should be discontinued to prevent a recurrence.

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