Clinical Laboratory Tests Research Articles

Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China

BackgroundThis study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of OTCD.MethodsA retrospective analysis was performed on the clinical manifestations, laboratory testing, and genetic test findings of ten children with OTCD admitted between August 2015 and October 2021 at Quanzhou Maternity and Children’s Hospital of Fujian Province in China.ResultsFive boys presented with early-onset symptoms, including poor appetite, drowsiness, groaning, seizures, and liver failure. In contrast, five patients (one boy and four girls) had late-onset gastrointestinal symptoms as the primary clinical manifestation, all presenting with hepatic impairment, and four with hepatic failure.Nine distinct variants of the OTC gene were identified, including two novel mutations: c.1033del(p.Y345Tfs*50) and c.167T > A(p.M56K). Of seven patients who died, five had early-onset disease despite active treatment. Three patients survived, and two of them underwent liver transplantation.ConclusionsThe clinical manifestations of OTCD lack specificity. However, elevated blood ammonia levels serve as a crucial diagnostic clue for OTCD. Genetic testing aids in more accurate diagnosis and prognosis assessment by clinicians. In addition, we identified two novel pathogenic variants and expand the mutational spectrum of the gene OTC, which may contribute to a better understanding of the clinical and genetic characteristics of OTCD patients.

Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies

Inherited platelet disorders (IPDs) are a heterogeneous group of conditions that present significant challenges in diagnosis and management. Here, we report two cases of patients presenting with clinically significant bleeding but with unclear etiologies by conventional clinical laboratory testing. Further evaluation, utilizing a combination of high-dimensional multiplexed mass cytometry and genetic sequencing, revealed the underlying causes of bleeding in both cases, leading to definitive diagnoses. These cases underscore the potential utility of combined multimodal approaches in evaluating patients with bleeding disorders. Moreover, these high-parameter methods can offer substantial mechanistic insights and can enhance our understanding of the molecular pathogenesis of IPDs. Future studies involving larger patient cohorts are needed to further validate this strategy, directly comparing its diagnostic yield and accuracy with current clinical laboratory testing approaches, which can ultimately improve patient care.

Efficacy Analysis of Anti-Tuberculosis Chemotherapy Combined with Arthroplasty or Joint Replacement for Tuberculous of the Elbow Joint: A Retrospective Study of 40 Patients.

Tuberculous arthritis of the elbow joint (TAEJ) is a relatively rare infectious bone and joint disease. Misdiagnosed owing to inconspicuous early symptoms, often the elbow joint has suffered serious damage at the time of treatment. This study retrospectively investigated the clinical manifestations, population characteristics, clinical diagnosis, surgical treatment, and functional recovery of elbow joint tuberculosis (TB). A retrospective study of 40 patients was conducted. These patients were diagnosed with tuberculous arthritis of the elbow from June 2007 to August 2021 and were diagnosed with TAEJ by fine-needle aspiration biopsy or biopsy of surgically excised lesions. All patients underwent surgery after taking regular anti-TB drugs and chemotherapy for 2 weeks. Visual analogue scale score, Mayo elbow performance score, and hospital for special surgery assessment scale score were used to evaluate postoperative functional recovery. Imaging tests were used to evaluate patients' postoperative recovery. Forty patients were followed up for an average of 12.5 ±0.5 months. Erythrocyte sedimentation rate and C-reactive protein values returned to normal after anti-TB drug chemotherapy combined with surgical removal of infected lesion tissue; only one patient relapsed 16 months after surgery. Tuberculous arthritis of the elbow joint should be diagnosed in an early stage based on clinical manifestations, laboratory tests, and histopathological examinations. Complete surgical removal of the lesions should be performed after chemotherapy with anti-TB drugs for 2 weeks. The corresponding operation should be selected according to the damage in the elbow joint.

Clinical characterization of brucellosis in children from non-pastoral areas: a report of five cases

BackgroundBrucellosis is a global public health concern and occurs mainly in young adults and the elderly, with children having a lower incidence, thus often leading to delayed treatment. This study aimed to describe the epidemiologic features and clinical characteristics of brucellosis in children.MethodsIn this retrospective study, the clinical data of five children diagnosed with brucellosis in Anhui Provincial Children’s Hospital between January 1, 2021 and December 30, 2022 were analyzed.ResultsAll five cases were from non-pastoral areas, among which three have a history of livestock exposure and originated from the countryside. All patients had medium-high grade fever, mostly accompanied by night sweats and malaise, and three had joint pains. Laboratory tests showed that their white blood cell count was normal or mildly raised, with lymphocytes as the predominant cell population. Four patients had anemia, four had aspartate aminotransferase and alanine aminotransferase abnormality, and two had elevated ferritin levels. All blood samples were positive for Brucella culture, one of which had positive bone marrow culture, and all had positive serology test results. All patients were treated with rifampicin, in combination with sulfamethoxazole or doxycycline for 6 weeks following diagnosis. Four children had a good prognosis, but one child had recurrent joint pain.ConclusionsThe epidemiologic history of children from non-pastoral areas with brucellosis is often unclear; clinical manifestations and laboratory tests lack specificity; and they are easily delayed diagnosis. Clinicians should remain vigilant regarding the possibility of this disease in children with fever of unknown origin. The epidemiological history should be investigated in detail to improve the diagnostic ability of brucellosis. We recommend emphasizing serological testing. Children with brucellosis who receive timely diagnosis and standardized treatment can expect a favorable prognosis.

Therapeutic efficacy of a three-component anthelmintic drug against cestodosis and nematodosis of small domestic animals

The purpose of the study therapeutic efficacy of combined anthelmintic drug on dogs and cats of different age groups naturally infected with cestodes and nematodes.Materials and methods. The study drug in the suspension form contains oxantel pamoate, pyrantel pamoate, praziquantel, and additives as active ingredients. The therapeutic efficacy of the drug was evaluated on 228 animals naturally infected with nematodes or cestodes in the Podolsk Experimental Production Base of the VNIIP – FSC VIEV. The animals were divided into experimental and control groups of 6 animals each. The experimental dogs and cats were administered the study drug while the control animals were not given the drug. Clinical examinations and laboratory tests of fecal samples were performed on days 10, 20 and 30 after the start of the experiment. The method of helminthoscopy was used to detect segments and helminthoovoscopy as per Fülleborn to detect helminth eggs/cocoons in animal fecal samples with their subsequent differentiation. The results were statistically processed by the Student method using Microsoft Excel 2016.Results and discussion. It was found that anthelmintic drug based on oxantel pamoate, pyrantel pamoate and praziquantel had high therapeutic efficacy against parasitism in dogs and cats of nematodes Toxocara spp., Toxascaris leonina, Trichuris vulpis, Uncinaria stenocephala, Ancylostoma spp. and cestodes Echinococcus spp. (except for cats), Mesocestoides spp., Taenia spp., Dipylidium caninum, and Diphyllobothrium latum. When the drug was used in the animals of different age groups, no side effects or complications were recorded.

Cytomegalovirus Retinitis: Clinical Manifestations, Diagnosis and Treatment.

Cytomegalovirus (CMV) retinitis is the most common eye disease associated with CMV infection in immunocompromised individuals. The CMVR may initially be asymptomatic; however, relatively mild vitreous inflammation at the onset may be an important differential point from other diseases in HIV patients. Fundus photography, CD4 T-cell count, and telemedicine could be used to screen and monitor the high-risk population, particularly in resource-limited regions. Retinitis generally starts in the peripheral retina and advances toward the posterior pole, which could develop to the characteristic "pizza pie" appearance marked by central retinal necrosis and intraretinal hemorrhage. CMVR causes vision loss if left untreated, and early antiviral therapy significantly reduces the risk of vision loss. Alongside traditional antiviral treatments, immunotherapies including CMV-specific adoptive T-cell therapy and CMV immunoglobulin (CMVIG) are emerging as promising treatment options due to their favorable tolerability and reduced mortality. This review comprehensively examines CMV retinitis, encompassing the clinical features, differential diagnosis, laboratory tests, and updated treatment strategies to inform clinical management.

New progress in laboratory detection of respiratory infectious diseases in children

Respiratory infectious disease has become ahead of all the children's diseases, with the trend of continuously increasing global incidence, antimicrobial resistance and simultaneous infection with multiple pathogens. Diagnosis of this disease is mainly based on clinical symptoms and pathogenic detection. However, there are some differences in clinical manifestations, progression and prognosis between pediatric patients and adults, which prompting clinical diagnosis mainly depending on clinical laboratory test. Therefore, fast, convenient and accurate methods are urgently needed to clarify the type of infectious pathogen and carry out differentiated treatment, and reduce the burden on families and public health-care systems in schools. This article aims to elaborate the laboratory methods of children's respiratory infectious diseases and explore the opportunities and challenges, which can provide ideas for prevention, early screening and diagnosis, prognosis and treatment monitoring.

The influence of rehabilitation on the quality of life after radical treatment of endometrial cancer and atypical endometrial hyperplasia

Background. Gynecological cancers in women are a widespread type of oncology. Among them, endometrial cancer (EC) is often highlighted as one of the most common diseases in this group. The analysis of publications showed insufficient effectiveness of rehabilitation in patients with EC and recurrent atypical endometrial hyperplasia (rAEH).Objective: to compare the state of patients with rAEH or EC after hysterectomy with bilateral salpingo-oophorectomy, depending on the recovery tactics.Material and methods. The study included 119 patients diagnosed with rAEH (n=58) or stage IA EC (n=61) after hysterectomy with bilateral salpingo-oophorectomy. The group of women with rAEH was divided into two subgroups: 1A (“active” rehabilitation, n=27) and 1B (“passive” rehabilitation, n=31); two subgroups were also formed from the cohort of EC patients: 2A (“active” rehabilitation, n=29) and 2B (“passive” rehabilitation, n=32). “Active’ rehabilitation included a comprehensive, personalized program, “passive” one was based on standard rehabilitation protocols. Apart from standard clinical examination of patients, their quality of life (QoL), physical condition as well as the levels of cytokines and other biochemical blood parameters were assessed.Results. An analysis of the overall picture showed a high incidence of rAEH or EC in women aged 40–49 years. Comorbid pathologies, low QoL level and a number of significant changes in laboratory parameters were often observed. Regardless of the approach to rehabilitation, the patients' health improved over the course of 12 months. “Active” rehabilitation significantly improved psychological well-being, sexual function, overall QoL and a number of other objective health indicators of patients with rAEH or EC compared to standard rehabilitation course.Conclusion. The overall picture of rAEH or EC patients was presented, the main factors that reduce QoL in women with these diseases were identified. A system of integral QoL assessment in patients with rAEH or stage IA EC was developed including subjective and objective parameters obtained during general clinical examination, laboratory tests and analysis of questionnairing results, which should be used to adequately monitor the state of patients after surgery and the effectiveness of rehabilitation. The advantage of comprehensive rehabilitation over standard protocols in terms of efficiency and speed of recovery was shown.

A case report of human infection with avian influenza H10N3 with a complex respiratory disease history

BackgroundOn March 16th 2024, the first case of Human infection with avian influenza H10N3 since the end of the global COVID-19 Pandemic was reported in Kunming, China. To enhance comprehension of the source of infection and risk factors of the H10N3 virus infection, this case report summarizes the clinical features, epidemiological investigation, and laboratory test results. Provides recommendations for the prevention and control of Human infection with avian influenza H10N3.Case presentationA 51-year-old male with a history of COVID-19 infection and a smoking habit of 30 years, worked in livestock breeding and was exposed to sick and dead poultry before falling ill with fever and chills on 28th February 2024. A week later, he was diagnosed with severe pneumonia, influenza, and respiratory failure by the Third People's Hospital of Kunming(KM-TPH). He was discharged on 17th April and none of his 6 close contacts showed any symptoms of illness. Environmental samples taken from the epidemic spot revealed that peacock feces tested positive for avian influenza sub-type H9 and waterfowl specimens showed positive results for avian influenza sub-type H5. Gene sequencing conducted on positive specimens from the patient's respiratory tract by the Chinese Centre for Disease Control and Prevention (CCDC) showed a high degree of similarity (98.6–99.5%) with the strain responsible for the second global case of human infected with H10N3 (reported from Zhejiang, China 2022).ConclusionsAccording to the available epidemiological information, there is limited evidence to suggest that H10N3 viruses are excessively lethal. However, adaptive site mutations have been observed in the H10N3 isoform of mammals. While it is unlikely that the H10N3 virus will spread among humans, the possibility of additional cases cannot be entirely ruled out. Symptoms of human infection with H10N3 avian influenza are similar to those of common respiratory infections, which may result in them being overlooked during initial clinical consultations. Therefore, it is essential to improve surveillance of the H10 sub-type of avian influenza and to increase the awareness of hospital-related workers of cases of pneumonia of unknown origin.

Assessment of right ventricular sequelae by speckle tracking echocardiography in recovered COVID-19 patients

Background TTE is the main modality used to assess RV function, but conventional TTE parameters have limited diagnostic value because they may fail to detect early abnormalities in RV systolic function. Due to its ability to detect subclinical impairment of cardiac function, 2D STE has been widely used to investigate RV function. In this study, we aimed to investigate whether there are sequelae of RV function in recovered COVID-19 patients with pulmonary involvement. Methods This is a prospective observational cohort study of 57 healthy volunteers and 54 patients. Participants had no history of chronic illness and no evidence of respiratory or cardiac symptoms. The patients had been hospitalised with COVID-19 with pulmonary involvement but did not require intensive care unit follow-up or non-invasive mechanical ventilation support. TTE was performed. Demographic and clinical characteristics and laboratory test results were collected. Results LVEF, TAPSE, St and FAC were significantly lower in the patient group. LV-LS 3-chamber, LV-GLS, RV-FWS, RV-GLS were significantly lower in the patient group. Conclusions RV-LS and LV-GLS were shown to decrease in the patient group. Although no obvious pathological values were observed in RV parameters on conventional echocardiography, TAPSE, St and FAC values were lower in the patient group.

Development and validation of machine learning-based prediction model for severe pneumonia: A multicenter cohort study

Severe pneumonia (SP) is a prevalent respiratory ailment characterized by high mortality and poor prognosis. Current scoring systems for pneumonia are not only time-consuming but also exhibit limitations in early SP prediction. To address this gap, this study aimed to develop a machine-learning model using inflammatory markers from peripheral blood for early prediction of SP. A total of 204 pneumonia patients from seven medical centers were studied, with 143 (68 SP cases) in the training cohort and 61 (32 SP cases) in the test cohort. Clinical characteristics and laboratory test results were collected at diagnosis. Various models including Logistic Regression, Random Forest, Naïve Bayes, XGBoost, Support Vector Machine, and Decision Tree were built and evaluated. Seven predictors—age, sex, WBC count, T-lymphocyte count, NLR, CRP, TNF-α, IL-4/IFN-γ ratio, IL-6/IL-10 ratio—were selected through LASSO regression and clinical insight. The XGBoost model, exhibiting best performance, achieved an AUC of 0.901 (95 % CI: 0.827 to 0.985) in the test cohort, with an accuracy of 0.803, sensitivity of 0.844, specificity of 0.759, and F1_score of 0.818. Indeed, SHAP analysis emphasized the significance of elevated WBC counts, older age, and elevated CRP as the top predictors. The use of inflammatory biomarkers in this concise predictive model shows significant potential for the rapid assessment of SP risk, thereby facilitating timely preventive interventions.

Association between trabecular bone score, 10-year probability risk for fracture, and vertebral fractures in rheumatoid arthritis

ObjectivesThe aim was to assess the association and predictive value of trabecular bone score (TBS), fracture risk assessment tool (FRAX), and TBS-adjusted FRAX with prevalent vertebral fractures (VFs) in patients with rheumatoid arthritis (RA). MethodsPatients diagnosed with RA were included in this cross-sectional study. Clinical data and laboratory tests were collected on the same day as the dual-energy x-ray absorptiometry (DXA) scan. TBS, bone mineral density (BMD), and vertebral fracture assessment (VFA) were obtained from the DXA scan. We used the FRAX tool to assess the 10-year probability of major osteoporotic fracture (MOF-FRAX) and hip fracture (HF-FRAX) with and without BMD. These parameters were further adjusted for TBS. Patients with prevalent VFs were defined as those with moderate to severe VFs from T4 to L4. VFs presence was used as the binary variable in the logistic regressions and receiving operator characteristics (ROC) curves analysis. ResultsSixty-nine patients were enrolled, with 55.1 % being postmenopausal. The mean TBS was 1.328 ± 0.104. Osteoporosis according to the WHO criteria was present in 39 patients (56.5 %), and six patients (8.7 %) had VFs with thoracic predominance (66.67 %). Univariate and multivariate logistic regression analyses did not show an association between TBS and vertebral fractures, but FRAX scores indicated such an association. The area under the curve (AUC) with 95 % confidence intervals (CI) for the MOF-FRAX score with BMD, MOF-FRAX score without BMD, TBS-adjusted MOF-FRAX score, and TBS were 0.837 [0.686–0.988], 0.795 [0.629–0.961], 0.778 [0.571–0.984], and 0.515 [0.298–0.731], respectively. ConclusionIn our RA patients, FRAX scores were associated with vertebral fractures (VFs), while TBS was not. The MOF-FRAX score combined with BMD, showed the best AUC for VFs in this population.

Food-Dependent Exercise-Induced Anaphylaxis: A Challenging Life-threatening Condition

Food-dependent exercise-induced anaphylaxis (FDEIA) is an uncommon but potentially life-threatening condition characterized by allergic reactions triggered by the combination of specific food ingestion and physical exertion. Despite its rarity, FDEIA poses significant diagnostic and management challenges due to its complex pathophysiology and variable clinical presentation. Diagnosis relies on careful evaluation of clinical history, symptomatology, and laboratory tests, with inherent difficulties in distinguishing FDEIA from other related conditions. Management of FDEIA involves comprehensive strategies to minimize the risk of allergic reactions through measures such as allergen avoidance, patient education, and timely administration of epinephrine. While existing treatment approaches primarily target acute reactions, ongoing research endeavors are crucial for validating emerging diagnostic and therapeutic modalities. This review offers a comprehensive overview of FDEIA, encompassing its epidemiology, underlying pathophysiology, clinical presentations, diagnostic challenges, and management approaches.

The impact of transanal drainage tube on the incidence of anastomotic leakage and small bowel obstruction in radical surgery (Dixon) for rectal cancer: a retrospective cohort study.

Anastomotic leakage (AL) and small bowel obstruction (SBO) are common complications after rectal cancer radical surgery (Dixon). Although the commonly used defunctioning stoma (DS) can reduce the incidence and harm of AL, it increases the probability of other adverse consequences, including SBO. Therefore, a safe and effective method for preventing the complications related to the radical surgery of rectal cancer is urgently needed. Previous studies have found that transanal drainage tube (TDT) can have a positive impact on the incidence of these two complications by draining gas and feces from the intestinal lumen, without causing other serious consequences. Therefore, this article further explores the clinical benefits that TDT can bring by analyzing the clinical data of postoperative patients with rectal cancer. This study included 221 patients who underwent radical surgery (Dixon) for rectal cancer in Hubei Cancer Hospital from September 2020 to February 2023, determine whether it meets the inclusion criteria of this study based on preoperative examination, intraoperative exploration results, and treatment methods. DS was used in 70 patients and TDT in 88 patients during the surgery; meanwhile, no protective anastomotic measures were applied in 63 patients. Seventy patients subjected to DS were categorized as group 1, 88 patients subjected to TDT as group 2, and 63 patients with no protective measures for anastomosis as group 3. Through postoperative clinical manifestations, imaging examinations, and laboratory tests, a total of 18 cases of AL and 30 cases of SBO were identified in the three groups. The effectiveness of TDT and that of other surgical procedures in preventing complications, accelerating postoperative recovery, and reducing surgical costs were compared through univariate and multivariate analyses. The clinical features of the three groups have baseline comparability. No statistically difference was noted in baseline characteristics between three groups (all P>0.05). The incidence of AL and SBO in group 1 are 7.1% and 27.1%, in group 2 are 3.4% and 4.5%, and in group 3 are 15.9% and 11.1%. Compared to patients in no protective anastomotic measures with TDT and DS, TDT has a lower incidence of postoperative AL (P<0.05) and SBO (P>0.05), and faster postoperative recovery (P<0.05). The cost of inpatient surgery is not significantly different (P>0.05). Although DS can reduce the incidence of AL to a certain extent (P>0.05), it significantly increased the incidence of SBO (P<0.05), delayed postoperative defecation time (P<0.05) and caused higher cost (P<0.001). Compared to DS, the incidence of AL in TDT is not significantly different (P>0.05), but the incidence of SBO is noticeably lower (P<0.001), with faster postoperative recovery and less cost (P<0.05). TDT is a safer, more effective, and more economical surgery for preventing postoperative complications.

Clinical Aspect and Laboratory Test of Hyperimmunoglobulin M

Clinical Aspect and Laboratory Test of Hyperimmunoglobulin M

Review on the Role of Mitochondrial Dysfunction in Septic Encephalopathy.

Septic Encephalopathy (SE) is a frequent and severe complication of sepsis, characterized by a range of neurocognitive impairments from mild confusion to deep coma. The underlying pathophysiology of SE involves systemic inflammation, neuroinflammation, blood-brain barrier (BBB) disruption, and mitochondrial dysfunction. Among these factors, mitochondrial dysfunction plays a pivotal role, contributing to impaired ATP production, increased reactive oxygen species (ROS) generation, and activation of apoptotic pathways, all of which exacerbate neuronal damage and cognitive deficits. Diagnosis of SE relies on clinical evaluation, neuroimaging, electroencephalography (EEG), and laboratory tests, though specific diagnostic markers are still lacking. Epidemiological data show SE is prevalent in intensive care unit (ICU) patients, especially those with severe sepsis or septic shock, with incidence rates varying widely depending on the population and diagnostic criteria used. Recent research highlights the importance of mitochondrial dynamics, including biogenesis, fission, and fusion, in the development of SE. Mitophagy, a selective form of autophagy that degrades damaged mitochondria, plays a critical role in maintaining mitochondrial health and protecting against dysfunction. Targeting mitochondrial pathways and enhancing mitophagy offers a promising therapeutic strategy to mitigate the effects of SE, reduce oxidative stress, prevent apoptosis, and support the resolution of neuroinflammation. Further research is essential to elucidate the mechanisms of mitochondrial dysfunction and mitophagy in SE and develop effective interventions to improve patient outcomes.

May Recovered COVID-19 Patients Have Impaired Myocardial Work?

Background: The aim of this study was to investigate whether there are sequelae in left ventricular (LV) systolic function by comparing LV function in fully recovered COVID-19 patients with pulmonary involvement and healthy controls without COVID-19 by conventional echocardiography and myocardial work. Materials and Methods: 55 healthy volunteers and 61 patients hospitalized with COVID-19 with pulmonary in-volvement were included. Patients did not need non-invasive or invasive mechanical ventilation support during hospitalization. Patients were included in the study if they were asymptomatic for at least six months after recov-ery from COVID-19. Transthoracic echocardiography (TTE) was performed. Demographic and clinical characteris-tics and laboratory test results were collected. Clinical characteristics, blood tests, TTE, speckle-tracking echocar-diography (STE) and myocardial work results were compared. Results: No statistically significant differences were found in the longitudinal strain parameters of the LV among the study groups. The patient group exhibited notably reduced levels of global work index (GWI), global con-structed work (GCW), and global work efficiency (GWE). The patient group exhibited a notably elevated global wasted work (GWW). Conclusions: The group of fully recovered asymptomatic COVID-19 patients with pulmonary involvement showed significantly lower values for GWI, GCW, and GWE, while GWW showed a significantly higher value. Myocardial work parameters may be useful in determining myocardial sequelae.

Síndrome de Lowe: Um estudo de caso

This study highlights the complexity of Lowe's syndrome, also known as oculocerebrorenal syndrome (OCR), first described by Lowe in 1952, is a rare genetic condition that primarily affects the eyes, brain, and kidneys. Genetic diagnosis, although possible, is often limited by the costs and slowness of the public health system. Thus, diagnosis is often based on clinical criteria and laboratory tests. The prevalence is estimated at 1 in 500,000 in the general population. The case report presents LG, a child with Lowe's Syndrome with neuropsychomotor delay, congenital cataract and glaucoma. The transdisciplinary team, composed of diverse healthcare professionals, has taken a holistic approach to addressing the complex clinical and therapeutic challenges of the syndrome. The therapeutic interventions focused on improving the quality of life, highlighting the importance of speech therapy and the need for early intervention integrated with a transdisciplinary approach, in addition to the active inclusion of the family in the therapeutic process. The study emphasizes the crucial role of third sector institutions in supporting populations in vulnerable situations and highlights the need for articulation between institutions and the public health system.

Comparison of Systemic Exposure Between Epinephrine Delivered via Metered-Dose Inhalation and Intramuscular Injection.

Background: Primatene® MIST, an epinephrine metered-dose inhaler (MDI), has long been questioned by some medical professionals for asthma treatment despite having been approved by the Food and Drug Administration. One of the primary reasons for their concerns stemmed from potential cardiovascular complications following epinephrine administration. However, the majority of documented cardiovascular complications seemed to occur following the injection route of the epinephrine. The aim of this study was to evaluate the systemic exposure of epinephrine delivered through different administration routes and to understand its relationship with cardiovascular effects. Since albuterol inhalers are commonly recommended for asthma, albuterol was also studied as a comparator drug. Method: A randomized, evaluator-blinded, three-arm crossover study was conducted in 28 healthy adult subjects to compare the profiles of systemic exposure for epinephrine delivered by MDI versus epinephrine intramuscular (IM) injection and albuterol MDI. Serially sampled plasma epinephrine and albuterol levels were measured and compared between treatment groups. Safety was assessed by adverse events, serial vital signs, electrocardiograms (ECGs), and clinical laboratory tests obtained at each crossover dosing visit. Results: Systemic exogenous drug exposure for inhaled epinephrine MDI (39 pg/mL × hour) was ∼9 times lower than that of epinephrine IM (435 pg/mL × hour) and 122 times lower than that of albuterol MDI (3453 pg/mL × hour) after dose normalization. The Cmax in epinephrine MDI (345 pg/mL) was approximately half of that of epinephrine IM (816 pg/mL) and that of albuterol MDI (681 pg/mL). Plasma drug concentrations for epinephrine MDI dropped rapidly to baseline (∼0.6 hour), while epinephrine IM took ∼8 hours, and albuterol MDI required more than 24 hours. Epinephrine MDI and albuterol MDI resulted in minimal, clinically insignificant changes in vital signs and ECGs, whereas epinephrine IM led to mild transient increases in systolic blood pressure, heart rate, and corrected QT interval. Conclusion: Epinephrine MDI (Primatene MIST) had ∼9 times lower systemic drug exposure (SDE) than that of epinephrine IM and ∼122 times lower than that of albuterol MDI. The lower SDE of inhaled epinephrine also correlated with reassuring safety findings, with no significant cardiovascular adverse effects found, compared with transient effects seen after IM epinephrine. Clinical trial registration number: NCT04207840.

Systemic Lupus Erythematosus: An Overview of Pathogenesis, Prevalence, Diagnosis, Classification Criteria, Management, Challenges, and Future Directions

Systemic Lupus Erythematosus (SLE) is a complex, chronic autoimmune disease characterized by widespread inflammation and tissue damage across multiple organ systems. This paper aims to review the SLE pathogenesis, prevalence, diagnosis, classification criteria, management, challenges, and future directions. Scientific literature pertaining to SLE was analyzed through comprehensive searches in specialized academic resources, including PubMed and Google Scholar. This review explores the multifaceted nature of SLE, pathogenesis, which involves a complex interplay of genetic, environmental, and immunological factors leading to the loss of self-tolerance and autoantibody production. The epidemiology section highlights the varying incidence and prevalence of SLE globally. We review current diagnostic approaches, including clinical evaluation and laboratory tests, which are crucial for early and accurate diagnosis. The classification criteria, as outlined by established guidelines, are discussed to provide insight into the diagnostic framework used to identify and categorize SLE. SLE management is briefly addressed, including issues related to disease heterogeneity. Finally, we explore future directions in SLE research, focusing on emerging therapies. Despite advancements, the management of SLE remains challenging, necessitating ongoing research efforts to improve diagnostic precision, therapeutic efficacy, and patient outcomes.