Jacobs Institute of Women's Health
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The complexities of aeronautical transfer of acutely unwell neurosurgical patients
No full textOBJECTIVE: Neurosurgical care is difficult to access in many scenarios. Aeromedical evacuation of acutely unwell neurosurgical patients from remote, isolated or poorly equipped locations can be considered. This article aims to provide a framework of logistical factors which deserve special consideration in the preparation of these patients for transfer. METHODS: We searched all relevant medical literature, military reports, and travel industry documents on transfer of neurosurgical patients. This review was combined with a senior author\u27s (MJ) extensive relevant experience, to present important factors for neurosurgeons to consider during planning of aeromedical evacuation, highlighting potential preventable causes of deterioration en-route. RESULTS: Several criteria must be met for a transfer to be considered. The safe transfer of patients with cranio-spinal pathology requires efficient collaboration between the referring teams, the receiving units/departments, and the medical transfer service. Clear communication, qualified personnel and appropriate transportation equipment must be available for the transfer. One must consider unique stressors during the air transfer, including the risk of hypoxia on certain types of flights. Vibration, loud noise, acceleration, and changes in barometric pressure en-route may negatively affect the patient during transfer. Patient stabilization before transfer is a priority. Medical conditions which can potentially worsen in-flight should be corrected before transfer. The use of a checklist before departure is highly recommended, and is included below. The timing of transfer concerning the postoperative patient deserves special consideration. CONCLUSIONS: Although there is little published information, this review provides useful criteria and parameters needed for safe aeromedical evacuation of neurosurgical patients
Investigation of a Novel Noninvasive Risk Analytics Algorithm With Laboratory Central Venous Oxygen Saturation Measurements in Critically Ill Pediatric Patients
No full textBACKGROUND: Accurate assessment of oxygen delivery relative to oxygen demand is crucial in the care of a critically ill patient. The central venous oxygen saturation (Svo) enables an estimate of cardiac output yet obtaining these clinical data requires invasive procedures and repeated blood sampling. Interpretation remains subjective and vulnerable to error. Recognition of patient\u27s evolving clinical status as well as the impact of therapeutic interventions may be delayed. OBJECTIVE: The predictive analytics algorithm, inadequate delivery of oxygen (IDo) index, was developed to noninvasively estimate the probability of a patient\u27s Svo to fall below a preselected threshold. DERIVATION COHORT: A retrospective multicenter cohort study was conducted using data temporally independent from the design and development phase of the IDo index. VALIDATION COHORT: A total of 20,424 Svo measurements from 3,018 critically ill neonates, infants, and children were retrospectively analyzed. Collected data included vital signs, ventilator data, laboratory data, and demographics. PREDICTION MODEL: The ability of the IDo index to predict Svo below a preselected threshold (30%, 40%, or 50%) was evaluated for discriminatory power, range utilization, and robustness. RESULTS: Area under the receiver operating characteristic curve (AUC) was calculated for each index threshold. Datasets with greater amounts of available data had larger AUC scores. This was observed across each configuration. For the majority of thresholds, Svo values were observed to be significantly lower as the IDo index increased. CONCLUSIONS: The IDo index may inform decision-making in pediatric cardiac critical care settings by providing a continuous, noninvasive assessment of oxygen delivery relative to oxygen demand in a specific patient. Leveraging predictive analytics to guide timely patient care, including support for escalation or de-escalation of treatments, may improve care delivery for patients and clinicians
Acral Lentiginous Melanoma. Part I. Epidemiology, Etiology, Clinical Presentation, and Diagnosis
No full textThis review article focuses on acral lentiginous melanoma (ALM), a rare cutaneous malignancy and the least common subtype of cutaneous malignant melanoma (CMM). ALM exhibits distinct characteristics, such as low overall mutation rates and increased chromosomal alterations. It is associated with worse prognosis, more advanced disease, and lower survival rates compared to other CMM subtypes. The incidence of ALM varies globally, with higher rates in non-white populations, particularly affecting Black, Hispanic, and Asian individuals. Racial disparities may be attributed to a lack of awareness, biological/genetic differences, cultural values, and socioeconomic status. The etiology of ALM remains unknown, but studies suggest a limited impact of UV radiation, potential links to trauma and stress, and a unique tumor immune microenvironment. Diagnostic challenges include varied clinical presentations, with specific biopsy techniques recommended. Clinical research on ALM lacks representation from diverse populations, ultimately limiting its translatability. Understanding the molecular landscape and clinical aspects of ALM will be crucial for improved diagnosis, treatment, and addressing health disparities. LEARNING OBJECTIVES: After completing this learning activity, participants should be able to discuss the epidemiology, etiology, mutational landscape, tumor microenvironment, and clinical presentation of acral lentiginous melanoma (ALM). Moreover, participants should also be able to describe the important racial disparities observed in ALM
Whip-it Beyond Desserts: Causing Subacute Combined Degeneration - Case Report and Literature Review
No full textNitrous oxide (NO) has been increasingly used for recreational purposes due to its dissociative and euphoric properties. Exposure to NO results in the deactivation of in vivo vitamin B, leading to subsequent neurological sequelae due to vitamin B deficiency.7 Current management focuses on cessation of exposure and replacement therapy, yet patients may continue to suffer from permanent neurological damage.12 We report a case of a 50-year-old woman who presented with impaired balance, a subacute decline in mental status, multiple falls, and back pain. She was hospitalized for evaluation of her presenting symptoms and for pain management. The patient\u27s sister helped uncover the patient\u27s misuse of NO via Whip-it! cartridges. Physical examination, along with magnetic resonance imaging of the cervical and thoracic spine, confirmed the diagnosis of subacute combined degeneration (SCD), and appropriate treatment was initiated. Our case aims to bring attention to this seemingly harmless recreational drug that continues to regain popularity and its association with brain and nerve damage.13
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
No full textTrifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism. Both siblings were also diagnosed with focal segmental glomerulosclerosis (FSGS) and bone marrow failure and ultimately died of hypoxemic respiratory failure. Initial sequencing of the TFP-associated genes HADHA and HADHB showed only a paternally inherited variant in HADHB, NM_000183.3:c.1059del (p.Gly354AspfsTer10). Subsequent evaluation by the Undiagnosed Diseases Network with genome and transcriptome sequencing revealed a rare maternally inherited 17 base pair deletion in HADHB, NM_000183.3:c.1390-515_1390-499del, located in the final intron and resulting in a pseudoexon that harbors a premature termination codon. Both sisters were compound heterozygous for this and the paternal premature termination codon. No other variants were detected that were potentially causative for the FSGS and bone marrow failure on genome sequencing. A review of the literature at that time revealed several case reports of the uncommon clinical findings of FSGS, bone marrow failure, and pulmonary involvement in patients with TFP, confirming this clinical diagnosis as the complete explanation for these siblings
Impact of disease-related indicators on pain measures in rheumatoid arthritis: a biopsychosocial perspective
No full textOBJECTIVE: Pain is a significant and debilitating symptom of rheumatoid arthritis (RA) that significantly affects the quality of life and functional ability of patients. In the present study, we examined the association between pain variables and disease activity markers in patients with RA. METHODS: We enrolled 133 patients with RA and assessed their clinical characteristics, socioeconomic and psychological factors, and pain measures. The psychological factors assessed included depressive symptoms and pain catastrophizing. RESULTS: The study cohort comprised predominantly female patients with RA with an average age of 55.5±10.1 years. Depressive symptoms had a mean score of 5.83±4.71, while pain catastrophizing had an average score of 14.36±10.70. The mean scores for pain intensity, and pain interference, were 2.98±1.75 and 19.54±16.17, respectively, with significant positive correlations observed with depressive symptoms. Hemoglobin and hematocrit levels were negatively correlated with pain intensity. Multivariable linear regression analysis revealed significant associations between depressive symptoms and pain intensity, catastrophizing, and interference. Other factors associated with pain intensity included tender joint count. Pain catastrophizing was associated with education and economic status. Pain interference was associated with sex and economic status. CONCLUSION: This study shows the influence of disease-related indicators and psychological factors on pain in patients with RA, with depressive symptoms playing a crucial role in predicting pain experience. Effective pain management strategies for RA should include the management of depressive symptoms, in addition to addressing disease-related indicators
An electrolyte disturbance masquerading as a panic attack
No full textBecause proton pump inhibitors (PPIs) are so commonly used, their safety and potential adverse reactions often are not considered. This article describes a patient whose paresthesias and severe muscle cramps were attributed to panic attacks but actually were caused by hypocalcemia secondary to PPI-induced hypomagnesemia. This case serves as a reminder that PPIs should be used cautiously and appropriately with consideration for regular monitoring of electrolytes and vitamin B12
Natural Language Processing to Identify Infants Aged 90 Days and Younger With Fevers Prior to Presentation
No full textOBJECTIVE: Natural language processing (NLP) can enhance research studies for febrile infants by more comprehensive cohort identification. We aimed to refine and validate an NLP algorithm to identify and extract quantified temperature measurements from infants aged 90 days and younger with fevers at home or clinics prior to emergency department (ED) visits. PATIENTS AND METHODS: We conducted a cross-sectional study using electronic health record (EHR) data from 17 EDs in 10 health systems that are part of the Pediatric Emergency Care Applied Research Network Registry. All visits between January 1, 2012, and May 31, 2023, for infants aged 90 days and younger were eligible, excluding those with trauma-related diagnoses. We iteratively refined a prespecified rules-based NLP algorithm in 7 successive samples of 200 visits and validated the algorithm on a held-out sample of 500 visits. The reference standard for pre-ED quantified temperature measurements was a temperature documented in clinical notes, excluding ED vital sign temperatures. RESULTS: In our final sample, 113 of 500 visits (23%) had quantified temperature measurements. The NLP algorithm had sensitivity 95% (95% CI: 88%-98%), specificity 96% (95% CI: 93%-97%), and positive predictive value 86% (95% CI: 78%-91%). When applying rules to exclude temperatures that may have been noted more than 24 hours previously, the NLP algorithm had lower sensitivity (88%; 95% CI: 81%-93%) but similar specificity (97%; 95% CI: 95%-98%). CONCLUSIONS: This highly accurate NLP algorithm can identify febrile infants without documented fevers in the ED to facilitate their inclusion in large studies using EHR data
