Clinical Laboratory Tests Research Articles

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

BackgroundFibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs). We identified a novel heterozygous missense mutation, FGG c.1168G > T (NCBI NM_000509.6), and conducted expression studies and functional analyses to explore the influence on fibrinogen synthesis, secretion, and polymerization.MethodsCoagulation tests were performed on the patients to detect the fibrinogen concentration. Whole-exome sequencing (WES) and Sanger sequencing were employed to detect the novel mutation. Recombinant fibrinogen-producing Chinese hamster ovary (CHO) cell lines were built to examine the recombinant fibrinogen synthesis and secretion by western blotting and enzyme-linked immunosorbent assay (ELISA). The functional analysis of fibrinogen was performed by thrombin-catalyzed fibrin polymerization assay. In silico molecular analyses were carried out to elucidate the potential molecular mechanisms.ResultsThe clinical manifestations, medical history, and laboratory tests indicated the diagnosis of hypodysfibrinogenemia with bleeding phenotype in two patients. The WES and Sanger sequencing revealed that they shared the same heterozygous missense mutation, FGG c.1168G > T. In the expression studies and functional analysis, the missense mutation impaired the recombinant fibrinogen's synthesis, secretion, and polymerization. Furthermore, the in silico analyses indicated novel mutation led to the hydrogen bond substitution.ConclusionThe study highlighted that the novel heterozygous missense mutation, FGG c.1168G > T, would change the protein secondary structure, impair the “A: a” interaction, and consequently deteriorate the fibrinogen synthesis, secretion, and polymerization.

Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease

Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years. All patients exhibited splenomegaly and thrombocytopenia, with 16 patients showing skeletal imaging changes, and 5 of them presenting with bone pain symptoms. Genetic analysis revealed 15 distinct mutations, predominantly missense mutations, with L483P being the most prevalent (35.7%), followed by V414L, L303I, and F252I. Mutation sites were predominantly located in exon 7. Noteworthy findings included the first report of the S310G mutation by our research group and the first occurrence of the K196R mutation in the Chinese population. Additionally, the N227S mutation was implicated in a potential association with neuropathy. Despite advancements, Uncertainties still exist in the correlation between clinical phenotypes and genotypes in GD patients.

ICSH review of internal quality control policy for blood cell counters.

This paper is a report of an ICSH review of policies and practices for internal quality control (IQC) policy for haematology cell counters among regulatory bodies, cell counter manufacturers and diagnostic laboratories. It includes a discussion of the study findings and links to separate ICSH guidance for such policies and practices. The application of internal quality control (IQC) methods is an essential pre-requisite for all clinical laboratory testing including the blood count (Full Blood Count, FBC, or Complete Blood Count, CBC). The ICSH has gathered information regarding the current state of practice through review of published guidance from regulatory bodies, a questionnaire to six major cell counter manufacturers (Abbott Diagnostics, Beckman Coulter, Horiba Medical Diagnostic Instruments & Systems, Mindray Medical International, Siemens Healthcare Diagnostics and Sysmex Corporation) and a survey issued to 191 diagnostic laboratories in four countries (China, Republic of Ireland, Spain and the United Kingdom) on their IQC practice and approach to use of commercial IQC materials. This has revealed diversity both in guidance and in practice around the world. There is diversity in guidance from regulatory organizations in regard to IQC methods each recommends, clinical levels to use and frequency to run commercial controls, and finally recommended sources of commercial controls. The diversity in practice among clinical laboratories spans the areas of IQC methods used, derivation of target values and action limits used with control materials, and frequency of running commercial controls materials. These findings and their implications for IQC Practice are discussed in this paper. They are used to inform a separate guidance document, which proposes a harmonized approach to address the issues faced by diagnostic laboratories.

Elevated serum CA199 levels in patients suffering type 2 diabetes vs. various types of cancer

AimsCarbohydrate antigen 199 (CA199) is a standard tumor marker, and recent studies have found elevated in CA199 levels in patients with diabetes. However, there is no systematic measurement and comparison of serum CA199 levels in patients with diabetes and cancer. Here, a detailed description of the changes in serum CA199 levels in patients with type 2 diabetes and various cancers was explored.MethodsA total of 5,641 participants were screened for clinical laboratory test results of serum CA199 levels over the past three years (2020–2023). This study included 2,464 healthy controls, 688 patients with type 2 diabetes, and 2,489 patients with 16 different types of cancer. Each type of cancer had more than 30 independent serum CA199 level test results. The serum CA199 levels were compared between cancer groups, type 2 diabetes patients, and healthy controls. Additionally, the CA199 levels of cancer patients were compared with those of patients with type 2 diabetes.ResultsThe serum CA199 levels of esophagus cancer, lung cancer, pancreatic cancer, ovarian cancer, breast cancer, rectum cancer, prostate cancer, bladder cancer, liver cancer, gastric cancer, cervical cancer, colon cancer, lymphoma, thyroid cancer, intracranial tumors, and nasopharyngeal laryngeal cancer were found to be elevated compared to healthy controls (P < 0.01). In addition, the serum CA199 levels of patients with type 2 diabetes were also significantly elevated compared to healthy controls (P < 0.01). Moreover, the degree of elevation in serum CA199 levels in patients with type 2 diabetes was not significantly different from that observed in some types of cancer, such as esophagus cancer (P = 0.163), breast cancer (P = 0.927), prostate cancer (P = 1.000), bladder cancer (P = 0.406), Lymphoma (P = 0.975), thyroid cancer (P = 1.000), intracranial tumors (P = 0.161), nasopharyngeal and laryngeal cancer (P = 1.000).ConclusionsSerum CA199 levels also increase in type 2 diabetes, and the magnitude of the increase is similar to that seen in some cancers.

Renal impairment may indicate postoperative low vision in young patients with proliferative diabetic retinopathy undergoing vitrectomy.

To innovatively evaluate the impact of renal impairment in young work age patients with proliferative diabetic retinopathy (PDR) on their visuality after vitrectomy. To find out whether it is possible to better predict the improvement of visual acuity after vitrectomy in working-age people without adding additional preoperative testing. In view of the fact that diabetic retinopathy and diabetic nephropathy are common diabetic complications of microvascular damage, it is considered whether preoperative renal function can be used as this evaluation index. This paper studies the design under this theme. This retrospective study included 306 patients (306 eyes) diagnosed with PDR and undergoing vitrectomy in our hospital from January 2016 to June 2023. Relevant baseline data were collected, including age, history of kidney disease and clinical laboratory test results. According to the International Standard Logarithmic Visual Acuity Checklist, the best corrected visual acuity was tested on the first day of admission and one month after surgery, and the difference between the two was subtracted. A difference >0 was defined as "vision improved". Patients were classified as vision-improved group (n=245) and non-improved group (n=61). The differences in baseline serum urea nitrogen, creatinine, uric acid, Cystatin C, estimated glomerular filtration rate (eGFR) and urine protein distribution between the two groups were statistically analyzed, binary regression analysis was performed for meaningful parameters, and random forest model ranked the characteristics in importance. 1.A higher level of serum cystatin C [1.02(0.80,1.48) mg/L vs 0.86(0.67,1.12) mg/L, P<0.001] and a lower eGFR [82.3(50.33, 115.11) ml/(min/1.73m²) vs 107.69(73.9, 126.01) ml/(min/1.73m²), P=0.002] appeared in the non-(vision-)improved group compared with the vision-improved group. 2. The occurrence of preoperation proteinuria history of nephropathy take a larger proportion in non-improved group. 3. Univariate regression analysis showed history of nephrology (OR=1.887, P=0.028), preoperative serum urea nitrogen (OR=0.939, P=0.043), cystatin C (Cys-C) concentration (OR=0.75, P=0.024), eGFR (OR=1.011, P=0.003) and proteinuria (OR=3.128, P<0.001) were influencing factors to postoperative visual acuity loss in young working age PDR patients. Excluding other confounding factors, preoperative proteinuria is an independent risk factor for postoperative vision improvement in working-age PDR populations (OR=2.722, P=0.009). 4. The accuracy of the prediction random forst model is 0.81. The model appears to be superior in terms of positive prediction. In young work aged PDR patients undergoing vitrectomy, preoperative urine protein can be an independent indicator of postoperative visual loss. Aggressive correction of kidney injury before surgery may help improve postoperative vision in patients with PDR.

Computed tomography and magnetic resonance imaging approaches to Graves' ophthalmopathy: a narrative review.

Graves' ophthalmopathy (GO) affects up to 50% of patients with Graves' disease (GD) ranging from mild ocular irritation to vision loss. The initial diagnosis is based on clinical findings and laboratory tests. Orbital imaging, such as magnetic resonance imaging (MRI) and computed tomography (CT), is an important tool to assess orbital changes, being also useful for understanding disease progression and surgical planning. In this narrative review, we included 92 studies published from 1979 to 2020 that used either MRI and/or CT to diagnose and investigate GO, proposing new methods and techniques. Most of the methods used still need to be corroborated and validated, and, despite the different methods and approaches for thyroid eye disease (TED) evaluation, there is still a lack of standardization of measurements and outcome reports; therefore, additional studies should be performed to include these methods in clinical practice, facilitating the diagnosis and approach for the treatment of TED.

Enhancing clinical awareness: retrospective analysis of neurosyphilis cases and diagnostic predictors for early recognition and treatment.

This is a retrospective analysis of clinical data from individuals diagnosed with neurosyphilis, aiming to enhance healthcare professionals' understanding of the disease and expedite early diagnosis and intervention. A retrospective analysis was conducted on the clinical records of 50 patients who received a diagnosis of symptomatic neurosyphilis and were admitted to the Neurology Department during the period spanning January 2012 to December 2022. Clinical manifestations encompassed diverse phenotypes, with syphilitic meningitis accounting for 16% of cases, characterized by symptoms such as headache, blepharoptosis, paralysis, blurred vision, and tinnitus. Meningovascular syphilis presented in 36% of cases, exhibiting episodic loss of consciousness, limb numbness, and limb convulsion. Paralytic dementia manifested in 36% of cases, featuring symptoms such as memory loss, sluggish response, and slow movement. Tabes dorsalis was observed in 12% of cases, presenting with weakness, numbness, and staggering. Routine cerebrospinal fluid (CSF) analysis indicated abnormal white blood cell counts in 60% of patients, while biochemical testing revealed abnormal protein content in 52% of patients. Notably, statistically significant differences were observed between patients with interstitial and parenchymatous neurosyphilis (Z = 2.023, P = 0.044) in terms of CSF protein content. Electroencephalogram (EEG) results were abnormal in six patients, and imaging studies unveiled diverse findings in 46 patients. The study highlights the importance of neurological and/or ocular symptoms in diagnosing symptomatic neurosyphilis. Individuals with hypomnesia should be closely monitored for potential neurosyphilis. Integrating clinical manifestations, laboratory tests, EEG, and imaging can reduce misdiagnosis. This comprehensive approach shows promise in improving early identification and management of neurosyphilis.

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features

BackgroundPrimary carnitine deficiency (PCD) denotes low carnitine levels with an autosomal recessive pattern of inheritance. Cardiomyopathy is the most common cardiac symptom in patients with PCD, and early diagnosis can prevent complications. Next-generation sequencing can identify genetic variants attributable to PCD efficiently.ObjectiveWe aimed to detect the genetic cause of the early manifestations of hypertrophic cardiomyopathy and metabolic abnormalities in an Iranian family.MethodsWe herein describe an 8-year-old boy with symptoms of weakness and lethargy diagnosed with PCD through clinical evaluations, lab tests, echocardiography, and cardiac magnetic resonance imaging. The candidate variant was confirmed through whole-exome sequencing, polymerase chain reaction, and direct Sanger sequencing. The binding efficacy of normal and mutant protein-ligand complexes were evaluated via structural modeling and docking studies.ResultsClinical evaluations, echocardiography, and cardiac magnetic resonance imaging findings revealed hypertrophic cardiomyopathy as a clinical presentation of PCD. Whole-exome sequencing identified a new homozygous variant, SLC22A5 (NM_003060.4), c.821G > A: p.Trp274Ter, associated with carnitine transport. Docking analysis highlighted the impact of the variant on carnitine transport, further indicating its potential role in PCD development.ConclusionsThe c.821G > A: p.Trp274Ter variant in SLC22A5 potentially acted as a pathogenic factor by reducing the binding affinity of organic carnitine transporter type 2 proteins for carnitine. So, the c.821G > A variant may be associated with carnitine deficiency, metabolic abnormalities, and cardiomyopathic characteristics.

The effects of opium consumption on severity of disease on hospitalized COVID-19 patients in East of Iran, a prospective cohort study.

There are few theories and little empirical evidence about the bilateral impact of substance use and coronavirus disease 2019 (COVID-19), so a logical and accurate picture of this area is required. We investigated the effects of opium use on severity of disease on hospitalized COVID-19 patients in east of Iran. Demographic and clinical characteristics, vital signs, laboratory tests, mortality rate, type and duration of opium consumption in hospitalized patients who recovered from COVID-19 in the follow-up after 3 months were evaluated. In this study, 60 (20%) participants were the opium user and 251 (80%) were the non-user patients. Based on clinical symptoms, hypertension and systolic blood pressure in opium user were significantly higher than non-user patients (p < 0.05). In the laboratory tests, only the level of urea was higher in the opium positive group (37 [26.5-48.5] vs. 32 [23-43], respectively) and the percent of lymphocytes were lower in the opium positive (17 [8.2-25.8] vs. 18.7 [13.85-26.35], respectively). The initial therapies of both opium positive and negative infected patients showed not any significant changes (p > 0.05). Among the studied groups, one deceased case with COVID-19 was related to a drug user patient. Although, uses of opium reduced the levels of some risk factors, vital signs at admission and initial therapies during hospitalization in COVID-19 patients but it increased lung and heart diseases. Also, the severity of COVID-19 including hospitalization and mortality were associated with opium consumption.

Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.

Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9. Methods In this study, we reported a patient diagnosed with epilepsy in Tianjin Children's Hospital. We performed clinical examination and laboratory test, and whole-exome sequencing was performed for the proband's and his parents' peripheral blood. The suspected compound-heterozygous variant in the CEP152 gene was verified by Sanger sequencing and quantitative real-time polymerase chain reaction technology. Results We discovered three variants-two of them from CEP152 and one from HPD . The result showed the variants in CEP152 only. The patient presented with seizures frequently. Sanger sequencing showed two novel variants in CEP152 are in exon26 (NM_014985.3 c.3968C > A p.Ser1323*) and in exon16 (NM_014985.3 c.2034_2036del p.Tyr678*). Conclusions We reported a novel compound-heterozygous variant in the CEP152 gene in this study. Most of the phenotypes are Seckel syndrome and primary microencephaly, and the novel variant may cause an atypical phenotype that is epilepsy.

Генитоуринальный менопаузальный синдромом: возможности локальной комбинированной терапии

Genitourinary syndrome of menopause (GSM) is the second most common marker of the onset of menopause, with early symptoms that can occur during perimenopause. Objective. To study the dynamics of clinical symptoms of the disease and characteristics of the vaginal microbiota in patients with GSM receiving local therapy with the medication containing Lactobacillus acidophilus and estriol. Patients and methods. The study included 62 patients with postmenopausal atrophic vaginitis. Diagnosis verification consisted of clinical examination (general and gynecological) and laboratory tests (microscopy and molecular biology testing by real-time polymerase chain reaction, determination of vaginal pH). Results. Local therapy with the medication containing Lactobacillus acidophilus and estriol in patients with postmenopausal atrophic vaginitis allowed to restore the vaginal microbiota and eliminate the symptoms of this nosological form of the disease with a statistically significant efficacy. Conclusion. The study of the vaginal microbiota showed that the type of bacterial community in women with menopause for up to 10 years or more without systemic hormone therapy was associated with the absence of Lactobacilli. Therefore, when verifying the diagnosis of atrophic vulvovaginitis, it is necessary to consider not only the presence of clinical symptoms, but also the characteristics of the vaginal microbiota, which will enable the specialists to personalize the management strategies for postmenopausal patients. Key words: atrophic vulvovaginitis, postmenopause, vaginal microbiota, vaginal tablet containing Lactobacillus acidophilus and estriol

Особенности течения хронической обструктивной болезни легких у пациентов, перенесших COVID-19

Aim. To evaluate the course of chronic obstructive pulmonary disease (COPD) in patients who had SARS-CoV-2 infection of various severity. Design. Three-centre cross-sectional study under the STROBE standard (STrengthening the Reporting of OBservational studies in Epidemiology). Materials and methods. We conducted a complete medical examination of 46 patients with COPD who had COVID-19 during the past year: without viral damage to pulmonary tissue (CT 0, n = 18), with viral damage to pulmonary tissue of max. 50 % (CT 1–2, n = 24) and with viral damage to pulmonary tissue of at least 50 % (CT 3–4, n = 4). Examinations included analysis of clinical information, laboratory and functional tests, as well as assessment of physical and emotional condition of patients using questionnaires and scales. Results. After the novel coronavirus infection (NCI), 69.6 % of patients developed COPD complications, 26.1 % of patients presented with COPD symptoms for the first time, which required medical assistance. Disease exacerbation was observed approximately 24 weeks after COVID-19. Post-COVID-19 patients required intensification of baseline therapy. COPD patients who had NCI with viral pulmonary involvement had elevated D-dimer levels; CT 3–4 group also had significant impairment of diffusive capacity of lungs. Patients with pulmonary involvement, corresponding to CT 3–4, had statistically higher (p &lt; 0.001) risk of reduction in the quality of life and aggravated anxiety and depression. Conclusion. In post-COVID-19 period, patients with COPD are at high risk of disease exacerbation requiring review of outpatient COPD baseline therapy in post-COVID-19-patients. COPD patients who had mild SARS-CoV-2 require long-term monitoring of their coagulation profile and diffusive capacity of lungs and are recommended long-term psychological support. Keywords: COPD, COVID-19, post-COVID, body plethysmography, diffusive capacity of lungs.

Clinical Aspects of Somatic Comorbidities in Gas and Electric Welders

Introduction: Health effects of welding fumes in workers are not limited to fibrosis and irritation of the respiratory tract. Inhalation of a complex mixture of particles and gases from the workplace air can cause damage to the central nervous system and higher incidence of nonoccupational diseases attributed to toxic, allergic, and carcinogenic effects of this risk factor. Objective: To study characteristics of somatic comorbidities in welders with occupational diseases of the respiratory system. Materials and methods: The study involved 140 male patients aged 48 to 60 years suffering from occupational respiratory diseases. The main (first) group included gas and electric welders while the reference group consisted of miners and millers with silica-related lung diseases. The mean occupational exposure to industrial aerosols in the groups was 22.8 ± 6.7 and 22.3 ± 6.9 years, respectively. We conducted a questionnaire-based survey and clinical laboratory testing of the workers. The intergroup differences were considered statistically significant at p &lt; 0.05. Results: We established that lesions of the mucous membrane of the esophagus, stomach and duodenum were the most prevalent comorbidities in the electric welders (72.7 %), followed by dyslipidemia (47.3 %), stage I hypertension (36.4 %), liver diseases (31.8 %), kidney damage (31.1 %), stage II and III hypertension (27.8 %). Coronary heart disease and diabetes mellitus were much less frequent and observed in only 4.5 % of the welders. Mucosal lesion of the upper gastrointestinal tract and liver diseases were more prevalent in the welders compared to the reference group. Study limitations: Statistical analysis was carried out using a nonparametric test to compare two independent samples. Conclusions: Exposure to welding fumes inducing occupational respiratory diseases increases the frequency of a combination of such nonoccupational diseases as lesions of the mucous membrane of the upper gastrointestinal tract and liver damage.

Predicting early gastric cancer risk using machine learning: A population-based retrospective study.

Early detection and treatment are crucial for reducing gastrointestinal tumour-related mortality. The diagnostic efficiency of the most commonly used diagnostic markers for gastric cancer (GC) is not very high. A single laboratory test cannot meet the requirements of early screening, and machine learning methods are needed to aid the early diagnosis of GC by combining multiple indicators. Based on the XGBoost algorithm, a new model was developed to distinguish between GC and precancerous lesions in newly admitted patients between 2018 and 2023 using multiple laboratory tests. We evaluated the ability of the prediction score derived from this model to predict early GC. In addition, we investigated the efficacy of the model in correctly screening for GC given negative protein tumour marker results. The XHGC20 model constructed using the XGBoost algorithm could distinguish GC from precancerous disease well (area under the receiver operating characteristic curve [AUC] = 0.901), with a sensitivity, specificity and cut-off value of 0.830, 0.806 and 0.265, respectively. The prediction score was very effective in the diagnosis of early GC. When the cut-off value was 0.27, and the AUC was 0.888, the sensitivity and specificity were 0.797 and 0.807, respectively. The model was also effective at evaluating GC given negative conventional markers (AUC = 0.970), with the sensitivity and specificity of 0.941 and 0.906, respectively, which helped to reduce the rate of missed diagnoses. The XHGC20 model established by the XGBoost algorithm integrates information from 20 clinical laboratory tests and can aid in the early screening of GC, providing a useful new method for auxiliary laboratory diagnosis.

TORCH serological marker on cholestasis with the occurrence of biliary atresia and its clinical manifestations

Background and objectives. Biliary atresia occurs due to multifactorial etiology, and it was recently suggested that perinatal infection with TORCH, especially Cytomegalovirus (CMV), triggers inflammation of the bile ducts. This study aims to evaluate the TORCH infection on cholestasis with the occurrence of biliary atresia and its clinical manifestations. Materials and methods. A prospective single-center study was performed on 113 cholestatic infants and classified into two groups based on their positivity of immunoglobulin M and G (IgM and IgG). They were tested for CMV, Rubella, and Toxoplasmosis by a Gold Standard Diagnostics ELISA kit in our laboratory. Clinical conditions, laboratory tests (Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), γ-glutamyl transpeptidase (GGT), and liver histopathology between the two groups were analyzed with p &lt;0.05 was considered significant. Results. Out of 113 infants of cholestasis, 94.7% (n = 107) were CMV IgG-positive, followed by Rubella IgG-positive (47.8%, n=54). Rubella and toxoplasma IgM antibodies were least commonly found in cholestasis (8% and 7.1%, respectively). CMV IgG-positive status was noted to be older at the onset of jaundice. Infants with Rubella IgG-positive had less incidence of extrahepatic cholestasis (37.7% vs 62.3%) and liver fibrosis (39% vs 61%) (p&lt;0.05). There was no difference in sex, birth weight, gestational age, AST, ALT, GGT, coagulation hemostasis, and abdominal USG abnormality based on torch serological markers (p&gt;0.05). Conclusion: CMV infection mostly occurs in infants with cholestasis, followed by rubella infection. TORCH infection screening may be necessary in all infants with cholestasis.

Covid-19: Course and prognosis in patients with severe clinical form

Our aim is to identify factors of unfavorable prognostic significance in hospitalized patients with severe COVID-19, an analysis of clinical and demographic characteristics and routine laboratory tests was performed. For the following period: March - July 2023, 25 patients with severe COVID-19 needing intensive care and treatment were hospitalized in Military Medical Academy Sofia (Bulgaria). The diagnosis has been confirmed by RT-PCR analysis for SARS-CoV-2 detection. According to the prognosis, the target group of patients were divided into two groups - discharger and deceased. The average age of the analyzed cohort was 77.6 years. The most commonly reported clinical symptoms include fever, cough, shortness of breath, and neurological symptoms. We found that all patients with severe COVID-19 were comorbid and elderly. The average hospital stay in intensive care is 11.9 days. Nearly half of the cases had fatal outcome (12/25). Among the factors associated with the clinical severity of COVID-19 and mortality are advanced age, presence of chronic concomitant diseases, development of pneumonia and/or neurological complications, as well as deviations in some laboratory parameters.

Hipoparatiroid: Deteksi Awal dan Cara Penegakan Diagnosis

Hypoparathyroidism is an endocrine disorder characterized by low or even absent production of parathyroid hormone (PTH). The most common cause of hypoparathyroidism is injury to the parathyroid gland or accidental removal during thyroid surgery. The diagnosis of hypoparathyroidism is made by assessing clinical symptoms, physical examination and laboratory tests. The author wants to know more about how to detect early and diagnose hypoparathyroidism. Hypoparathyroidism is an endocrine disorder characterized by low or absent production of parathyroid hormone (PTH). The most common cause of hypoparathyroidism is injury to the parathyroid glands or unintentional removal during thyroid surgery. The diagnosis of hypoparathyroidism is established through the assessment of clinical symptoms, physical examination, and laboratory tests. The author aims to explore further the early detection and diagnostic approaches for hypoparathyroidism.

A hybrid feature selection approach for urinary tract infection detection and prediction in IoT-Fog environment

Urinary Tract Infections (UTIs) are a prevalent health concern experienced by millions of individuals worldwide and have a significant impact on overall well-being. The clinical presentation of UTIs varies depending on their location and severity. Common symptoms include discomfort during urination, increased frequency, a compelling urge to urinate, discomfort in the lower abdomen, and the presence of blood in the urine (hematuria). Severe cases may be accompanied by fever, pain in the flank region, and other systemic symptoms, indicative of an upper UTI. Precise diagnosis of UTIs is achieved through clinical evaluation and laboratory tests. The primary aim of this research is to utilize appropriate Machine Learning (ML)-based algorithms to predict Urinary Tract Infections (UTIs). The ultimate goal is to develop a predictive model that can be effectively implemented in a smart toilet system. By achieving this objective, this research seeks to provide an innovative and pragmatic solution for UTI prediction, harnessing the potential of ML algorithms in IoT-Fog settings to enhance healthcare and promote public health. This paper introduces a hybrid approach that combines feature selection methods and employs the Guided Regularized Random Forest (GRRF) classification algorithm to aid in the diagnosis of UTIs. A UTI dataset was created using data from routine examinations and definitive diagnostic outcomes for UTI patients. Dimensionality reduction was carried out using Principal Component Analysis (PCA), while feature selection was performed using K-best and Lasso CV techniques. Through the proposed strategy, this study achieved a remarkable accuracy rate of 98.8% and a precision rate of 98.90% in UTI identification. Future UTI prevention and treatment plans must be optimized via further research and ongoing efforts to overcome antibiotic resistance.

Safety, Tolerability, Pharmacokinetics, and Immunogenicity of the Anti-IFNAR1 Monoclonal Antibody QX006N: A First-in-Human Single Ascending Dose Study in Healthy Chinese Volunteers.

QX006N is a novel, humanized, IgG4κ monoclonal antibody targeting IFNAR1, developed for the treatment of systemic lupus erythematosus. This study aims to investigate the pharmacokinetics, safety, tolerability, and immunogenicity of QX006N when administered intravenously to healthy Chinese individuals. A double-blind, randomized, placebo-controlled, single-ascending-dose, phase I clinical trial was conducted comprising five cohorts (n = 10 per cohort, except n = 5 for the first cohort). Subjects in each cohort were randomly assigned in a 4:1 ratio to receive a single intravenous infusion of QX006N (0.3 mg/kg, 1.0 mg/kg, 3.0 mg/kg, 6.0 mg/kg, or 10.0 mg/kg) or placebo for 30 minutes. Tolerability assessments included adverse events, vital signs, 12-lead electrocardiogram, physical examination, and clinical laboratory tests. The serum concentration of QX006N was measured using the enzyme-linked immunosorbent assay method, and the anti-drug antibodies were detected using the electrochemiluminescence assay method. QX006N demonstrated a favorable safety and tolerability profile throughout the study. All treatment-emergent adverse events were of Grade 1-2 (CTCAE Version 5.0), and no serious adverse events, deaths, or drug discontinuations because of treatment-emergent adverse events were observed. All drug-related treatment-emergent adverse events showed no clear dose-related trends. Following an intravenous infusion of QX006N at doses that ranged from 0.3 mg/kg to 10 mg/kg, the half-life increased from 24.7 to 208 hours in a dose-dependent manner, while clearance decreased from 0.0828 to 0.0065 L/h. The maximum concentration exhibited nearly dose-proportional increases, and the area under the curve displayed a more than dose-proportional increment with non-linear pharmacokinetic characteristics. The incidence of anti-drug antibodies was observed to increase over time for doses that ranged from 1.0 mg/kg to 10.0 mg/kg of QX006N, reaching its peak at day 57 (range 62.50-87.50%). Conversely, the incidence of anti-drug antibodies in the QX006N 0.3-mg/kg and placebo cohorts remained low. QX006N demonstrated acceptable safety, tolerability, and pharmacokinetic characteristics in healthy subjects when administered as a single intravenous infusion at doses that ranged from 0.3 mg/kg to 10.0 mg/kg. Based on the pharmacokinetic and safety outcomes, a recommended effective dose of 300 mg is proposed for future phase Ib studies. This study has been registered at http://www.chinadrugtrials.org.cn/ under identifier CTR20212834.

Healthcare Risk Management and Countermeasures of Clinical Medical Laboratory Testing

Clinical laboratory test-data report is not only an important basis for clinical diagnosis and treatment, but also an important medical evidence. However, at present, in clinical practice, there is a general situation that the medical test-data report have no pay necessary attention in medicine evidence. As a result, in cases of medical malpractise disputes, the medical test-data report often becomes the evidence of litigation against the hospital. This study aims to analyze the healthcare risks in clinical medical laboratory testing and propose effective risk management strategies. The article first identifies key risk points in clinical medical laboratory testing, including risks before, during, and after testing, as well as other related risks. It then discusses existing issues in healthcare risk management, such as non-standardized testing processes, inadequate risk warning mechanisms, and insufficient credibility of test results. Based on these analyses, the article puts forward targeted management strategies, including standardizing testing processes, improving warning mechanisms, and enhancing the credibility of test results. The purpose of this study is to enhance the safety and accuracy of clinical medical laboratory testing, reduce healthcare risks, and ensure patient safety.