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Analytical and Bioanalytical Chemistry Jun 202417α-Hydroxyprogesterone (17α-OHP) quantification in dried blood spots (DBS) is essential for newborn screening for congenital adrenal hyperplasia (CAH), which is...
Development and evaluation of a candidate reference measurement procedure for detecting 17α-hydroxyprogesterone in dried blood spots using isotope dilution liquid chromatography tandem mass spectrometry.
17α-Hydroxyprogesterone (17α-OHP) quantification in dried blood spots (DBS) is essential for newborn screening for congenital adrenal hyperplasia (CAH), which is challenging due to its low physiological concentration. The high false-positive rates of immunoassays necessitate the development of more accurate methods. Liquid chromatography tandem mass spectrometry (LC-MS/MS) offers increased specificity and sensitivity, yet standardized procedures for 17α-OHP measurement are required for clinical application. A candidate reference measurement procedure (cRMP) using isotope dilution LC-MS/MS was developed for 17α-OHP quantification in DBS. By utilizing stable isotope-labeled D8-17α-OHP as an internal standard, the cRMP was optimized, covering sample preparation, calibration, and LC-MS/MS analysis. The method performance was validated across several parameters, including precision, accuracy, specificity, detection limits, and matrix effects. Clinical applicability was further assessed through the establishment of reference intervals for healthy newborns. The developed cRMP exhibited a linear range of 1.00 to 80.00 ng/mL for 17α-OHP, with detection and quantification limits of 0.14 ng/mL and 0.52 ng/mL, respectively. Inter- and intraday precision demonstrated coefficients of variation within 1.27 to 5.69%. The recovery rates and matrix effects were well within acceptable limits, ensuring method reliability. Clinical application showed distinct reference intervals for healthy newborns that were unaffected by sex but influenced by weight and gestational age. This method significantly enhances CAH diagnostic accuracy in newborns, providing a valuable tool for clinical laboratories and improving newborn screening program standardization and traceability.
PubMed: 38949681
DOI: 10.1007/s00216-024-05411-9 -
JPMA. the Journal of the Pakistan... Jun 2024Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep...
Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep intertrabecular recesses or sinusoids and ventricular trabeculations communicating with the left ventricular cavity. LVNC was first clinically recognised almost four decades ago, yet its diagnostic and management challenges persist. In this report, we present the case of an 18-year-old boy, who presented at the National Institute of Cardiovascular Diseases, Karachi, in March 2023, with complaints of dizziness, pedal oedema, and shortness of breath. Echocardiography revealed signs suggestive of LVNC, which were confirmed conclusively on Cardiovascular Magnetic Resonance (CMR) (NC/C ratio>2.4). The patient underwent implantable cardioverter defibrillator (ICD) placement, was discharged after a smooth post-procedure recovery, and is doing well on follow-ups. Hence, ICD and guideline-directed medical therapy as a combination have turned out to have satisfactory outcomes in decreasing morbidity and providing mortality benefits for such patients.
Topics: Humans; Male; Adolescent; Defibrillators, Implantable; Isolated Noncompaction of the Ventricular Myocardium; Echocardiography; Dyspnea; Dizziness
PubMed: 38948997
DOI: 10.47391/JPMA.10034 -
Clinical Ophthalmology (Auckland, N.Z.) 2024This prospective observational study aimed to explore the diversity in lacrimal pathway morphology among patients with congenital nasolacrimal duct obstruction (CNLDO)...
PURPOSE
This prospective observational study aimed to explore the diversity in lacrimal pathway morphology among patients with congenital nasolacrimal duct obstruction (CNLDO) by examining dacryocystography (DCG) images.
PATIENTS AND METHODS
The study included 64 patients who underwent DCG before undergoing general anesthesia probing for unilateral CNLDO. Several parameters were measured from the lateral view of the DCG images: (1) the lacrimal sac (LS) and the nasolacrimal duct (NLD) angle, (2) the angle formed by the superior orbital rim (SOR), LS, and the NLD, (3) LS length, and (4) bony NLD length. Additionally, frontal views of the DCG images were utilized to measure (5) LS-NLD angle and (6) LS angle concerning the midline.
RESULTS
The average age of the patients was 34.3 months. The mean ± standard deviation of the measurements of the above parameters was (1) -1.2° ± 16.5° (range: -44.6° ± 46.6°), (2) -5.0° ± 10.3° (range: -24.0° ± 19.0°), (3) 10.2 ± 2.4 mm (range: 6.5-16.0 mm), (4) 8.0 ± 2.5 mm (range: 3.1-14.8 mm), (5) 15.6° ± 11.2° (range: -16.8° ± 41.0°), and (6) 15.1 ± 5.2° (range: 3.3°-29.8°). All parameters, except for parameter (3), conformed to a normal distribution.
CONCLUSION
This study provides valuable anthropometric data derived from DCG images, highlighting the substantial variability in lacrimal pathway morphology among patients with CNLDO. Furthermore, anatomical constraints made probing with a straight metal bougie anatomically infeasible in 25.0% of the patients included in this study.
PubMed: 38948345
DOI: 10.2147/OPTH.S467150 -
Cureus May 2024Blunt abdominal trauma patients who have had prior bariatric procedures may present a diagnostic and therapeutic challenge. The single anastomosis duodenal-ileal bypass...
Blunt abdominal trauma patients who have had prior bariatric procedures may present a diagnostic and therapeutic challenge. The single anastomosis duodenal-ileal bypass with sleeve (SADI-S) is a modified duodenal switch procedure that is relatively uncommon. This case report describes a patient who previously underwent a SADI-S for the management of obesity and subsequently sustained a seat belt injury in a motor vehicle collision resulting in a laceration of the efferent loop. The patient presented with symptoms of acute abdominal pain and was diagnosed through imaging studies. Prompt surgical intervention was performed with resection and primary anastomosis of the damaged section of the jejunum, and repair of a large mesenteric laceration. We discuss the importance of early recognition and intraoperative decision-making in the case of this patient concerning her SADI-S.
PubMed: 38947652
DOI: 10.7759/cureus.61388 -
Cureus May 2024Platypnea-orthodeoxia syndrome (POS) is a rare condition characterized by dyspnea and oxygen desaturation that worsens in the upright position and improves when lying...
Platypnea-orthodeoxia syndrome (POS) is a rare condition characterized by dyspnea and oxygen desaturation that worsens in the upright position and improves when lying down. We report the case of a 67-year-old male who presented with a 14-month history of dyspnea in the sitting/standing position. Despite treatment for suspected asthma, his symptoms persisted, and he was referred to our hospital for further evaluation. Physical examination and arterial blood gas analysis confirmed the presence of POS, with a significant decrease in PaO and SpO when moving from a supine to an upright position. Contrast-enhanced CT showed no obvious embolism nor arteriovenous fistula, and ventilation-perfusion scintigraphy demonstrated ventilation-perfusion mismatch with a right-to-left shunt fraction of 9.4%, without any focal defect. Transthoracic echocardiography with a microbubble test demonstrated a right-to-left shunt that increased in the upright position. Transesophageal echocardiography revealed an atrial septal defect (ASD) with an atrial septal aneurysm and the presence of an inferior vena cava valve, causing a bidirectional shunt. The patient was diagnosed with POS secondary to ASD and was referred for percutaneous closure of the defect. Following the procedure, the shunt resolved, and the patient's orthostatic oxygen desaturation improved. This case highlights the importance of considering POS in patients with positional dyspnea and the value of performing diagnostic tests, such as echocardiography, in different positions to identify the underlying cause. Early recognition and appropriate management of POS can significantly improve patients' quality of life and prevent complications associated with chronic hypoxemia.
PubMed: 38947622
DOI: 10.7759/cureus.61260 -
Clinical Case Reports Jul 2024Creutzfeldt-Jakob disease is a neurodegenerative disorder caused by brain accumulation of a misfolded form of the cellular prion protein, whose diagnosis is challenging,...
KEY CLINICAL MESSAGE
Creutzfeldt-Jakob disease is a neurodegenerative disorder caused by brain accumulation of a misfolded form of the cellular prion protein, whose diagnosis is challenging, particularly in early stages, due to the variability and nonspecificity of the clinical and radiological features. 18F-fluorodeoxyglucose positron-emitted tomography has the potential to be considered a crucial investigation in these patients, revealing metabolic abnormalities earlier than the conventional neuroimaging analysis.
ABSTRACT
A 59-year-old man, the military officer, was referred to our Units for the onset of neurological symptoms rapidly evolving within a month, characterized by akinetic mutism, constructional apraxia, and disorders of spatial orientation. Brain 18F-fluorodeoxyglucose (18F-FDG) positron-emitted tomography (PET)/CT depicted an asymmetric hypometabolism in the left fronto-temporo-parietal cortex, as well as in the left thalamus and the right cerebellar hemisphere, while the glucose metabolism appears to be preserved in the somatosensory cortex and the basal ganglia. Laboratory routine analyses, cerebrospinal fluid routine, infective tests, electroencephalography (EEG), and brain magnetic resonance (MR) were all unremarkable. A positive RT-QuIC result on cerebro-spinal fluid (CSF) was subsequently shown, without any pathogenic gene mutations and, therefore, the result was consistent with a diagnosis of sporadic Creutzfeld-Jacob disease. The clinical evolution was quickly unfavorable, and the patient died about 4 months after hospital admission. FDG PET/computed tomography (CT) has the potential to be considered a crucial investigation in these patients, documenting metabolic changes long time before other diagnostic investigations such as CSF, EEG, brain CT, and brain MR, thus suggesting a greater sensitivity of glucose metabolic evaluation in the early stage of the disease in question.
PubMed: 38947537
DOI: 10.1002/ccr3.8974 -
Frontiers in Public Health 2024The Eastern Mediterranean Regional Office (EMRO) region accounts for almost 8% of all global (TB) cases, with TB incidence rates ranging from 1 per 100,000 per year in...
Epidemiology and antimicrobial resistance of spp. in the United Arab Emirates: a retrospective analysis of 12 years of national antimicrobial resistance surveillance data.
INTRODUCTION
The Eastern Mediterranean Regional Office (EMRO) region accounts for almost 8% of all global (TB) cases, with TB incidence rates ranging from 1 per 100,000 per year in the United Arab Emirates (UAE) to 204 per 100,000 in Djibouti. The national surveillance data from the Middle East and North Africa (MENA) region on the epidemiology and antimicrobial resistance trends of TB, including MDR-TB remains scarce.
METHODS
A retrospective 12-year analysis of = 8,086 non-duplicate diagnostic complex (MTB complex) isolates from the UAE was conducted. Data were generated through routine patient care during the 2010-2021 years, collected by trained personnel and reported by participating surveillance sites to the UAE National Antimicrobial Resistance (AMR) Surveillance program. Data analysis was conducted with WHONET, a windows-based microbiology laboratory database management software developed by the World Health Organization Collaborating Center for Surveillance of Antimicrobial Resistance, Boston, United States (https://whonet.org/).
RESULTS
A total of 8,086 MTB-complex isolates were analyzed. MTB-complex was primarily isolated from respiratory samples (sputum 80.1%, broncho-alveolar lavage 4.6%, pleural fluid 4.1%). Inpatients accounted for 63.2%, including 1.3% from ICU. Nationality was known for 84.3% of patients, including 3.8% Emiratis. Of UAE non-nationals, 80.5% were from 110 countries, most of which were Asian countries. India accounted for 20.8%, Pakistan 13.6%, Philippines 12.7%, and Bangladesh 7.8%. Rifampicin-resistant MTB-complex isolates (RR-TB) were found in 2.8% of the isolates, resistance to isoniazid, streptomycin, pyrazinamide, and ethambutol, was 8.9, 6.9, 3.4 and 0.4%, respectively. A slightly increasing trend of resistance among MTB-complex was observed for rifampicin from 2.5% (2010) to 2.8% (2021).
CONCLUSION
Infections due to MTB-complex are relatively uncommon in the United Arab Emirates compared to other countries in the MENA region. Most TB patients in the UAE are of Asian origin, mainly from countries with a high prevalence of TB. Resistance to first line anti-tuberculous drugs is generally low, however increasing trends for MDR-TB mainly rifampicin linked resistance is a major concern. MDR-TB was not associated with a higher mortality, admission to ICU, or increased length of hospitalization as compared to non-MDR-TB.
Topics: United Arab Emirates; Humans; Retrospective Studies; Tuberculosis, Multidrug-Resistant; Male; Mycobacterium tuberculosis; Female; Adult; Antitubercular Agents; Middle Aged; Drug Resistance, Bacterial; Adolescent; Microbial Sensitivity Tests; Young Adult; Population Surveillance
PubMed: 38947352
DOI: 10.3389/fpubh.2024.1244353 -
Endoscopic Ultrasound 2024EUS-guided fine-needle biopsy (FNB) is an established technique for the acquisition of tissue to diagnose lesions of the gastrointestinal tract and surrounding organs....
Comparing the diagnostic adequacy of 25-Gauge fork-tip franseen reverse-bevel-type needles in EUS-guided tissue acquisition: A prospective randomized study with a retrospective control.
BACKGROUND AND OBJECTIVES
EUS-guided fine-needle biopsy (FNB) is an established technique for the acquisition of tissue to diagnose lesions of the gastrointestinal tract and surrounding organs. Recently, newer-generation FNB needles have been introduced, including a second-generation reverse-bevel and the third-generation fork-tip and Franseen needles. We aimed to determine if there was any difference between these needles in terms of cytopathological diagnostic yield, sample cellularity, or sample bloodiness.
METHODS
One hundred twenty-seven consecutive patients undergoing EUS-guided FNB of any solid lesion were randomized to use either a Franseen or fork-tip needle in a 1:1 ratio and were compared with 60 consecutive historical cases performed with reverse-bevel needles. Patient and procedure characteristics were recorded. Cases were reviewed by a blinded cytopathologist and graded based on cellularity and bloodiness. Overall diagnostic yield was calculated for each study arm.
RESULTS
One hundred seventy-six cases were eligible for analysis, including 109 pancreatic masses, 24 lymphoid lesions, 17 subepithelial lesions, and 26 other lesions. The final diagnosis was malignancy in 127 cases (72%). EUS-guided FNB was diagnostic in 141 cases (80%) overall and in 89% of cases where malignancy was the final diagnosis. There was no difference in diagnostic yield, sample cellularity, or sample bloodiness between the different needle types. There was no difference in adverse events between groups.
CONCLUSIONS
EUS-guided FNB performed using 25-gauge Franseen, fork-tip, and reverse-bevel needles resulted in similar diagnostic yield, sample cellularity, and sample bloodiness. Our results may not be extrapolated to larger-caliber needles of the same design.
PubMed: 38947121
DOI: 10.1097/eus.0000000000000025 -
World Journal of Gastroenterology Jun 2024In this editorial, we respond to a review article by Nabi , in which the authors discussed gastroesophageal reflux (GER) following peroral endoscopic myotomy (POEM)....
In this editorial, we respond to a review article by Nabi , in which the authors discussed gastroesophageal reflux (GER) following peroral endoscopic myotomy (POEM). POEM is presently the primary therapeutic option for achalasia, which is both safe and effective. A few adverse effects were documented after POEM, including GER. The diagnostic criteria were not clear enough because approximately 60% of patients have a long acid exposure time, while only 10% experience reflux symptoms. Multiple predictors of high disease incidence have been identified, including old age, female sex, obesity, and a baseline lower esophageal sphincter pressure of less than 45 mmHg. Some technical steps during the procedure, such as a lengthy or full-thickness myotomy, may further enhance the risk. Proton pump inhibitors are currently the first line of treatment. Emerging voices are increasingly advocating for the routine combining of POEM with an endoscopic fundoplication method, such as peroral endoscopic fundoplication or transoral incisionless fundoplication. However, more research is necessary to determine the safety and effectiveness of these procedures in the long term for patients who have undergone them.
Topics: Humans; Esophageal Achalasia; Esophageal Sphincter, Lower; Esophagoscopy; Fundoplication; Gastroesophageal Reflux; Myotomy; Natural Orifice Endoscopic Surgery; Proton Pump Inhibitors; Risk Factors; Treatment Outcome
PubMed: 38946871
DOI: 10.3748/wjg.v30.i23.2947 -
World Journal of Gastrointestinal... Jun 2024Improved adenoma detection rate (ADR) has been demonstrated with artificial intelligence (AI)-assisted colonoscopy. However, data on the real-world application of AI and...
BACKGROUND
Improved adenoma detection rate (ADR) has been demonstrated with artificial intelligence (AI)-assisted colonoscopy. However, data on the real-world application of AI and its effect on colorectal cancer (CRC) screening outcomes is limited.
AIM
To analyze the long-term impact of AI on a diverse at-risk patient population undergoing diagnostic colonoscopy for positive CRC screening tests or symptoms.
METHODS
AI software (GI Genius, Medtronic) was implemented into the standard procedure protocol in November 2022. Data was collected on patient demographics, procedure indication, polyp size, location, and pathology. CRC screening outcomes were evaluated before and at different intervals after AI introduction with one year of follow-up.
RESULTS
We evaluated 1008 colonoscopies (278 pre-AI, 255 early post-AI, 285 established post-AI, and 190 late post-AI). The ADR was 38.1% pre-AI, 42.0% early post-AI ( = 0.77), 40.0% established post-AI ( = 0.44), and 39.5% late post-AI ( = 0.77). There were no significant differences in polyp detection rate (PDR, baseline 59.7%), advanced ADR (baseline 16.2%), and non-neoplastic PDR (baseline 30.0%) before and after AI introduction.
CONCLUSION
In patients with an increased pre-test probability of having an abnormal colonoscopy, the current generation of AI did not yield enhanced CRC screening metrics over high-quality colonoscopy. Although the potential of AI in colonoscopy is undisputed, current AI technology may not universally elevate screening metrics across all situations and patient populations. Future studies that analyze different AI systems across various patient populations are needed to determine the most effective role of AI in optimizing CRC screening in clinical practice.
PubMed: 38946853
DOI: 10.4253/wjge.v16.i6.335