Common Clinical Symptoms Research Articles

A Review of the Impact of Sjögren’s Syndrome and/or the Presence of Anti-Ro/SS-A Antibodies on Therapeutic Strategies for Rheumatoid Arthritis

Rheumatoid arthritis (RA) is an immune-mediated disease characterized by polyarthritis that affects the small joints of the bilateral upper and lower extremities. RA shares several common clinical symptoms with Sjögren’s syndrome (SS), another rheumatic disease caused by the lymphocytic infiltration of exocrine glands, with dry eye and dry mouth being the two most common symptoms. Anti-Ro/SS-A antibodies, a diagnostic biomarker of SS, are positive in patients with RA at a certain rate. The coexistence of SS and/or positivity for anti-Ro/SS-A antibodies in patients with RA influences disease activity and the effectiveness of several classes of disease-modifying antirheumatic drugs (DMARDs). Furthermore, RA, SS, and certain DMARDs, including methotrexate, are associated with the onset of lymphoproliferative disorders (LPD). In contrast, several biological DMARDs, such as tocilizumab and rituximab, are plausible options without the risk of LPD relapse. Considering the results of the studies introduced in this article, RA with SS and/or positivity for anti-Ro/SS-A antibodies could be considered a phenotype different from isolated RA from the perspective of refractoriness to DMARD therapy and LPD risk. Hence, rheumatologists should observe caution when choosing DMARDs. Further studies are needed to establish the appropriate treatment for patients with RA, SS, and/or the presence of anti-Ro/SS-A antibodies.

Navigating the intussusception scoring system: A journey beyond boundaries

Bowel resection is usually performed in the operative management of pediatric intussusception patients when the strangulation process lasts for a long time, causing intestinal ischemia and necrosis. A combined scoring system of biological markers and clinical conditions of pediatric patients with intussusception can be a tool to help make decisions to perform appropriate and rapid intestinal resection to reduce patient morbidity and mortality. This was a retrospective cross-sectional study of pediatric intussusception patients undergoing laparotomy surgery at Dr. Soetomo Hospital in 2019 – 2024. The data were collected from electronic medical records, with 69 patients meeting the inclusion criteria, multivariate analysis was performed to obtain markers and ratios of inflammatory markers associated with the occurrence of intestinal necrosis in pediatric patients with intussusception. Of the total 69 subjects, 49 (58%) underwent bowel resection and the rest (29 [42%]) resolves without bowel resection, 49 (58%) was male and dominated by age group of < 12 months old (51 [73,9%]), the most common clinical symptoms was abdominal pain (68 of 69 [98,6%]). Using the Backward Stepwise method, 2 clinical factors were obtained in the form of significant vomiting and abdominal mass (p < 0.05) and a biological marker in the form of CAR cut off (p < 0.05). Conclusion: A scoring system could not be created in this study, but several variables could be used as components of a scoring system in the future study.

Effects of intensive wearing face masks on patients with postinfectious cough: A randomized controlled trial.

Postinfectious cough was a common clinical symptom, which troubled patients and increased economic burden. The efficacy of pharmacotherapy for this symptom was unsatisfactory. This study aimed to explore the intervention effect of intensified mask-wearing on patients with post-upper respiratory tract infection cough and its role in reducing the economic burden of patients. As a randomized, controlled, single-blind trial, a total of 46 eligible patients with postinfectious cough were selected from local hospital, from November 2023 to February 2024. They were randomized into a control group (n = 21) and an experimental group (n = 25). Both groups received routine diagnosis and treatment, and the experimental group additionally received wearing medical surgical masks for >8 hours every day. All patients were followed up by on-site evaluation or telephone follow-up every 3 days for 3 weeks. We used a cough evaluation test to evaluate symptoms, recorded mask-wearing duration, and adjusted the treatment plan. There were no statistically significant differences in age, gender, course of disease, cough severity, and time of wearing face masks in the early stage between 2 groups (P > .05). Three people (12.0%) in the experimental group were excluded from the study because of substandard wearing face masks. The average daily mask-wearing time of the experimental and control groups were: 9.7 ± 0.9 versus 1.2 ± 2.2 hours (P < .001). There was a statistically significant difference in cough severity scores between 2 groups on the 9th day of follow-up, 6.6 ± 2.0 versus 8.0 ± 2.5 (P < .05), the markedly effective and total effective rates were: 86.4% versus 57.1% and 31.81% versus 38.09 % (P <.05). The treatment time for all patients in 2 groups to achieve effectiveness was: 10.1 ± 4.6 versus 13.0 ± 4.1 days (P < .05). The final medical expenditure of 2 groups were 289.4 (185.2, 782.2) CNY versus 717.5 (548.5, 1582.2) CNY (P < .05). The compliance of patients with intensive wearing face masks was high. The intensive wearing of face masks had a good intervention effect on the treatment of postinfectious cough, which could effectively reduce cough symptoms of patients, shorten the course of the disease, and reduce medical expenditure.

Imaging and Clinical Features of Primary Thoracic Lymphangioma.

Primary thoracic lymphangioma is a rare disease. Most of the previous studies are comprised of individual case reports, with a very limited number of patients included. This study aims to investigate the chest computed tomography (CT) imaging features and clinical manifestations of thoracic lymphangioma, thereby enhancing our understanding of the condition. A retrospective analysis was conducted on 62 patients diagnosed with thoracic lymphangioma, comprising 32 males and 30 females. The study focused on analyzing the chest CT imaging features and the clinical manifestations observed in these patients. The incidence rates of thoracic lymphangioma did not differ significantly between males and females; however, it was more frequently observed in children and adolescents. The most common clinical symptoms included cough, fever, chylothorax, chylous pericardium, and lymphedema. The mediastinum (82.3%) emerged as the most frequent location for thoracic lymphangioma, followed by the chest wall (62.9%), bone (40.3%), and pleura (32.3%). Pulmonary lymphangioma, the least prevalent subtype (19.4%), exhibited a propensity to induce respiratory symptoms, frequently manifesting as a generalized lymphatic anomaly (GLA). Furthermore, elevated levels of D-dimer were detected in 34 patients (54.8%) with thoracic lymphangioma. Imaging examinations play a crucial role in assisting clinicians in making more accurate early diagnoses of thoracic lymphangioma. They are also helpful for assessing the extent of systemic infiltration and enhancing diagnostic precision. With radiological assessment, clinicians could more readily select appropriate therapeutic treatments and monitor the progression of follow-up care.

Relationships between clinical symptoms, cognitive functioning, and TMS-evoked potential features in patients with major depressive disorder.

Cognitive impairment is a common clinical symptom of patients with major depressive disorder (MDD). Transcranial magnetic stimulation-evoked potentials (TEPs) detect cortical excitability and connectivity and provide potential biomarkers for MDD patients and their cognitive impairment. This study aimed to investigate the interrelationships between clinical symptoms, cognitive function, and electrophysiological marker TEPs in patients with MDD. A total of 117 participants were recruited, including 59 MDD patients and 58 healthy controls. Clinical symptoms were assessed by the Hamilton Depression Rating Scale and Hamilton Anxiety Rating Scale, and cognitive functioning was assessed by the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). TEPs were recorded by transcranial magnetic stimulation combined with electroencephalography (TMS-EEG). MDD patients exhibited lower RBANS total (P<0.001), immediate memory (P=0.001), language (P=0.003), attention (P<0.001), and delayed memory (P=0.008) scores than HCs. Patients with MDD had larger amplitudes for N100 (P=0.040) and N280 (P=0.037), compared to HCs. Correlation analysis indicated significant correlations between the following RBANS scores and TEPs: language and N45 amplitude (r=0.222, P=0.024), language and P60 amplitude (r=0.278, P=0.004), attention and P180 amplitude (r=0.213, P=0.030), RBANS total score and P30 amplitude (r=0.198, P=0.044), visuospatial/constructional index and N100 amplitude (r=-0.272, P=0.005). The results of this study indicate that cortical dysfunction and cognitive impairment are present in patients with MDD and that there is a strong correlation between them, suggesting that TEPs detected by the TMS-EEG may be used as a biomarker for MDD patients and their cognitive impairment.

A COMPARATIVE CLINICAL STUDY TO EVALUATE THE EFFICACY OF DASHAMOOLA NIRUHA BASTI WITH BHADRADARVADI GANA KASHAYA BASTI IN GRIDHRASI VIS-A-VIS SCIATICA

Gridhrasi is defined as vata vyadhi characterised by radiating pain from lumbo-sacral region (spik-katipurva) through thigh, knee, calf and foot (uru, janu, jangha, pada). The disease Gridhrasi described in Ayurveda and Sciatica described in western medical textbooks have absolute similarity in their manifestation. Low back ache is one of the most common clinical symptoms experienced by substantial portion of the population.It can be conveniently concluded that these two represent the same disease.The estimated life time incidence of sciatica is around 13% -40% of total population. Annual incidence of an episode of sciatica ranges from 1%-5%. The high prevalence of sciatica varies considerably, ranging from 1.6% in general population to 40% in selected working population. Considering all these the present study was undertaken to evaluate the efficacy of dashamoola niruha basti with bhadradarvadi gana kashaya basti in gridhrasi. Objectives:To compare the efficacy of dashamoola niruha basti followed by moolakadi thaila as anuvasana basti with bhadradarvadi gana kashaya basti followed by anuvasanabasti with prasarini thaila in the management of Gridhrasi. Materials and Methods: Total 40 subjects with 20 in each group.The interventions wereas follows, Group ADashamoola niruha basti followed by moolakadithaila as anuvasana basti. Group B Niruha with bhadradarvadi gana kashaya basti followed by anuvasana basti with prasarini thaila (in yoga basti pattern) in the management of Gridhrasi.The data was collected on 0th day, after the intervention i.e. on 9th day and after the completion of follow-up period i.e. on 25th day. Result: Group A and Group B showed equal statistical significance with assessment parameters like Ruk, Stambha, SLR test, Bragards sign, Sciatica bothersome index scale value with the significance P value of 0.005. On comparison, between the groups there was non-significant results found. Hence, both the groups were effective in reducing the symptoms of Gridhrasi. The overall study revealed that the selected intervention has showed significant results in the management of Gridhrasi vis-a-vis Sciatica.

Clinical and Epidemiological Characteristics of Chikungunya and Dengue Infections in Provincial Hospitals of Davao de Oro, Philippines

Background: Mosquito-borne diseases such as dengue and chikungunya are endemic to tropical regions and are common causes of acute febrile illness in both adults and children. The Philippines, home to more than one hundred million residents and visited by several million tourists each year, is one such region where the risk of these diseases is endemic. Methods: To better understand the detailed situation, we estimated the proportion of these diseases in the community by conducting a prospective observational study in four provincial hospitals of Davao de Oro, Philippines, from February 2019 to February 2020. Sera from 382 study participants were used for laboratory confirmation of dengue or chikungunya by serology. Results: Dengue was diagnosed in 57.1%, chikungunya in 7.07%, and coinfection with both dengue and chikungunya in 7.3%, while the etiology was undetermined in 35.9% of the study participants. Common clinical symptoms included fever, headache, and a rash, which were overlapping symptoms that were clinically indistinguishable at the presentation to the hospital, necessitating laboratory diagnostics. Conclusions: The identification of the presence of chikungunya in Davao de Oro calls for increased awareness, improved diagnostics, and integrated disease control measures to manage outbreaks that can occur in dengue-endemic regions.

32. EVALUATION OF CASES OF TREATING OVARIAN CYST RUPTURED BY LAPAROSCOPIC AT THANH NHAN HOSPITAL FROM 2018 TO 2023

Objective: Evaluate treating ovarian cyst ruptured by laparoscopic. Subject and methods: 26 patients who underwent laparoscopic surgery to treat ruptured ovarian cyst at Thanh Nhan hospital from January 2019 to June 2023. Results: The disease was common in the age group &lt;35 years with 77%. Common clinical symptoms were abdominal pain, some severe cases showed hemorrhagic shock (34,6%), and menstrual disorders were uncommon. The most common injury is ruptured bleeding of the ovarian cyst (65,4%). The most common size was 2-3 cm (73,1%). In this study, 65% of cases had &gt; 500 ml of blood in the abdomen, and Three of them had &gt; 1000 ml. 100% of patients underwent ovary-conserving surgery. 92,3% had early surgery which was performed under 24 hours. 100% no complications in surgery. Conclusion: Ovarian cyst rupture can cause hemorrhagic shock and should be diagnosed and treated early. The main treatment method is laparoscopic surgery to preserve the ovaries.

A morphological post mortem profile in minor salivary glands changes in females.

Women experience several systemic changes over all stages of life, many due to hormonal fluctuations. The sensation of dry mouth is the most common oral clinical symptom in women from climacteric period onwards, suggesting that sex hormones are important in maintaining salivary glands and oral homeostasis. Although the oral cavity is not conventional considered a target tissue for oestrogen, the extent to which salivary glands morphology and function are impacted by ageing and hormonal variations remain unknown. Due to the clinical demand for understanding oral changes related to the ageing process, this study aimed to portray the glandular morphological aspects in female during the different stages of life. To achieve this, 85 post-mortem specimens of labial minor salivary glands were obtained from females; they were distributed into three groups: group I (reproductive phase: up to 44years, n = 18); group II (climateric phase: 45-55years, n = 21) and group III (post-menopausal phase: over 56years, n = 46). The most significant changes observed included degenerative parenchymal aspects including the replacement of parenchymal structures by fibrous tissue, inflammatory infiltrate as well as vascular and endothelial changes. Ageing was associated with acinar serous metaplasia (p = 0.011), acinar fibrosis (p = 0.042) and ductal ectasia (p = 0.003). The process of acinar atrophy was observed in all groups, with an increase in severity in group III. These degenerative aspects appear to be age-dependent.

Legg-Calvé-Perthes Disease in Clinical Case Studies in Dogs

Abstract Legg-Calvé-Perthes disease (LCPD) is a degenerative disorder of the femoral head bone with a genetic basis which generally occurs in predisposed small dog breeds (up to 12 kg) at a young age (4–10 months). The aim of this study was to present an overview of this disease, the most common clinical symptoms and to describe methods of diagnosis and therapy of LCPD in dogs. This involved a follow-up of patients, dogs (n = 43; 20 males and 23 females) brought to the veterinary clinic in Hungary with suspicion of LCPD, where they were subjected to clinical, orthopaedic and radiographic examination and then to the most suitable conservative or surgical treatment. The most characteristic clinical symptom – lameness ‒ expressed by lameness grade (from 1 to 5), was monitored in all patients, especially those with grade 4 (n = 26). Additional clinical symptoms, such as response to manipulation (n = 42), pain on palpation (n = 33), weight-bearing (n = 2), muscle atrophy (n = 17) and crepitation (n = 24), were checked in the dogs. The prevalence of the unilateral form of LCPD in the pelvic limbs was observed in 38 patients (88.37 %) and the bilateral LCPD form appeared in 5 patients (11.63 %). Based on the Ljunggren’s score the degree of hip joint damage was observed in most LCPD patients with score 4 (n = 22; 51.10 %). Following the diagnosis, it was necessary to decide on the therapy, conservative or surgical (ostectomy), with elimination of painful symptoms and subsequent long-term postoperative rehabilitation as well as the improvement of the patient’s health status.

Research on Advances in Early Rehabilitation Intervention for Dysphagia

Dysphagia is a common clinical symptom caused by various factors, significantly affecting patients’ quality of life and prognosis. This paper aims to review recent advancements in early rehabilitation intervention for dysphagia, covering the significance of early rehabilitation, standards for functional assessment of dysphagia, timing for early rehabilitation training, psychological care, and rehabilitation training methods. The importance and latest research findings on early rehabilitation intervention for dysphagia are comprehensively discussed to provide a reference for clinical practice.

Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease with slow natural progression. Ischemic stroke and cognitive impairment are its most common clinical symptoms. Here, we report a rare 50-year-old woman who had rapid disease progression with c.457C>T, p.Argl53Cys heterozygous mutation in exon 4 of NOTCH3 and discuss the possible reasons. Furthermore, we summarized the clinical and neuroimaging characteristics of 14 CADASIL patients with Arg153Cys mutation in exon 4. The proband suffered acute ischemic stroke 5 times in 5 months, followed by rapidly progressive dementia (RPD) and inability to live independently, though she didn't have vascular risk factors and had been under standardized secondary prevention therapy since the first stroke. Magnetic resonance imaging showed extensive white matter hyperintensities, numerous ischemic infarcts and microbleeds, and severe brain atrophy. Her elder brother and other patients with Arg153Cys mutation in exon 4 all did not progress so quickly. Her multiple strokes may be associated with the poor self-regulation of vessels, which may promote the occurrence of RPD. Antiplatelet and anticoagulant drugs were difficult to prevent ischemic strokes. Severe imaging findings may indicate rapid progression of CADASIL. In addition, we found that headache was a very frequent symptom in CADASIL patients with Arg153Cys mutation in exon 4, accounting for 76.9%. CADASIL can also appear to have rapid progression, as illustrated by our proband, which is worthy of clinicians' attention and intervention timely. Headache may present in a relatively higher proportion of CADASIL patients with Arg153Cys mutation in exon 4.

A multicenter study on the sex difference of dysfunctions among rehabilitation outpatients in China

Dysfunction is a common clinical symptom among rehabilitation patients; however, whether there are sex differences in dysfunctions remains unclear. Therefore, this study aimed to explore this issue by examining a large sample of the population with dysfunctional problems. A multi-stage sampling scheme was used to select the rehabilitation outpatients as study participants. A total of 3415 participants from 21 medical institutions in seven cities in China were included in the final analysis. The measurement included general characteristics (age, sex, educational level, marital status, and household income) and disease-related characteristics (dysfunctions, self-care ability, vital signs, disease status, and disease course). The logistic regression was used to analyse the sex difference in dysfunctions among rehabilitation outpatients. Among 3415 rehabilitation outpatients, the mean age of participants was 45.3 years (SD:24.9), and more than half (54.0%) were male. The male patients were more likely to have cognitive impairment (OR = 1.74; 95% CI = 1.42, 2.13), speech disorders (OR = 2.00; 95% CI = 1.62, 2.48), dysphagia (OR = 1.55; 95% CI = 1.12, 2.16), and multiple dysfunctions (OR = 2.00; 95% CI = 1.57, 2.54) than female. Female patients were more likely to have motor dysfunctions (OR = 0.63; 95% CI = 0.50, 0.78). There are sex differences in dysfunctions among rehabilitation outpatients. This sex difference may provide potential clinical value for the treatment of rehabilitation patients.

Clinical, statistical and diagnostic features of relapse and continued growth of intracranial meningiomas

Introduction. Meningiomas account for 18–34 % of all intracranial tumors in adults and are the second most common among all intracranial neoplasms. Recurrence and progression account for 25 %, on average, even after radical tumor resection and radiotherapy., that worsens the prognosis and functional outcome of the disease significantly. Clinical manifestations often occur with large tumor sizes, initial symptoms are not taken into account by patients and by doctors during follow-up after surgery.Purpose. To assess the clinical features in patients with recurrence and progression of intracranial meningiomas and to identify the features of clinical manifestations in the progression of meningiomas.Materials and methods. The study was based on patients (132 cases) with recurrence and progression of intracranial meningiomas with Grade I–III according to histology, who were treated in the Department of Neurosurgery No. 4 of the Polenov Neurosurgical Institute in the period of time from 2014 to 2024. Assessment of clinical neurological symptoms was performed according to standard methods in clinical practice. The results were evaluated using the software system STATISTICA 10.0.Results. The multifactorial analysis of the clinical manifestations of the disease in recurrent intracranial meningiomas was performed, the main trends in oncogenesis were identified, and the most common clinical symptoms of tumor progression were identified, which must be taken into account by doctors during follow-up after surgery.

Disabling Pansclerotic Morphea: A century of discovery.

Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder at the severe end of the localized scleroderma spectrum which primarily affects children under 14 years of age. The disease is characterized by rapid sclerosis with circumferential involvement that frequently extends to the fascia, muscle, and bone. Disease progression often involves development of sclerotic plaques, chronic skin ulcers, and painful joint contractures leading to patient immobility with a high mortality rate. Internal organ fibrosis is typically absent. The aggressive and systemic nature of the disease leads patients to seek multidisciplinary care where current therapies are targeted towards immunomodulation and measures to preserve mobility while limiting infection, but often have limited efficacy. Here, we summarize all DPM patients in the English literature, common clinical symptoms, laboratory investigations, and treatments reported to date. Assessment of published cases suggest that the number of therapies does not influence disease outcome and that female patients were younger at the time of reported death. Clinician familiarity and awareness of common DPM symptoms are important for an accurate and early diagnosis. Furthermore, knowledge of the treatments that have been reported to be effective in mitigating disease progression may be helpful in expanding the treatment options available to patients.

Multiplatform Metabolomics: Enhancing the Severity Risk Prognosis of SARS-CoV-2 Infection.

Concerns about the SARS-CoV-2 outbreak (COVID-19) continue to persist even years later, with the emergence of new variants and the risk of disease severity. Common clinical symptoms, like cough, fever, and respiratory symptoms, characterize the noncritical patients, classifying them from mild to moderate. In a more severe and complex scenario, the virus infection can affect vital organs, resulting, for instance, in pneumonia and impaired kidney and heart function. However, it is well-known that subclinical symptoms at a metabolic level can be observed previously but require a proper diagnosis because viral replication on the host leaves a track with a different profile depending on the severity of the illness. Metabolomic profiles of mild, moderate, and severe COVID-19 patients were obtained by multiple platforms (LC-HRMS and MALDI-MS), increasing the chance to elucidate a prognosis for severity risk. A strong link was discovered between phenylalanine metabolism and increased COVID-19 severity symptoms, a pathway linked to cardiac and neurological consequences. Glycerophospholipids and sphingolipid metabolisms were also dysregulated linearly with the increasing symptom severity, which can be related to virus proliferation, immune system avoidance, and apoptosis escaping. Our data, endorsed by other literature, strengthens the notion that these pathways might play a vital role in a patient's prognosis.

Clinical and epidemiological characteristics of patients with pheochromocytoma and retroperitoneal paraganglioma

Introduction. Pheochromocytoma/paraganglioma (PPGL) is a rare hormonally active tumor of chromaffin tissue. Delayed diagnosis of this disease can lead to severe, even fatal, complications. Surgical treatment of PPGL without the necessary preoperative preparation can cause intraoperative uncontrolled hemodynamic impairment. In addition, since 2017, PPGL has been recognized as a malignant tumor due to the presence of metastatic potential. All these factors determine the need for early diagnosis of PPGL, which is based, first of all, on knowledge of the clinical picture by specialists in various fields.Aim. To check and confirm the epidemiological characteristics of PPGL as well as the most common clinical symptoms in the whole group of PPGL and in subgroups of clinical forms; to form a risk group for screening for PPGL.Materials and methods. There were enrolled 353 patients in the study. These patients were operated on at the St. Petersburg State University Hospital in the period from 2010 to 2022 inclusive. All the patients were verified PPGL diagnosis histologically. Clinical symptoms were assessed: a) retrospectively, by analyzing complaints and anamnesis from the initial examination in medical histories upon admission to the hospital for surgical treatment b) both in the entire group as a whole and in subgroups of clinical forms (paroxysmal, constant, mixed, asymptomatic). Statistical analysis was performed using the Python 3.11 programming language (Python Software Foundation, USA). descriptive statistics of quantitative characteristics are presented in the form of medians, first and third quartiles in me format [q1; q3], categorical features – in the form of absolute and relative frequencies in the format n (%). the frequency histogram was constructed using the Matplotlib 3.8.2 library.Results. PPGL is most common in women over 40 years of age. The most common symptoms of PPGL are the following: a feeling of rapid heartbeat (55.95%), headache (41.07%), arterial hypertension (AH) in the form of hypertensive crises (55.65%), constant increase in blood pressure (38.39%), episodes of moderate increases in blood pressure (24.11%), sweating (30.65%), general weakness and fatigue (26.19%), hot flashes or chills (24.11%). These symptoms are formed into the criteria for screening for PPGL. In the asymptomatic clinical form – lower back pain is more common (14%); with paroxysmal – panic attacks (10%); with mixed – thirst and dry mouth (10%), and with constant form – the actual constant nature of hypertension (100%).Conclusion. In a large sample of patients with a rare pathology, the most characteristic symptom complex was identified, characteristic of both PPGL and individual clinical forms. A risk group has been formed for screening for PPGL.

Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

Introduction: Wilson's disease (WD) is a genetic disease, inherited in an autosomal recessive manner, caused by a mutation in the ATP7B gene, which results in impaired excretion of copper in the bile. This causes the accumulation of copper in various tissues and organs, leading to their damage. The range and severity of symptoms are wide, so diagnosis is difficult and requires a high index of suspicion. The most common clinical symptoms are hepatic and neuropsychiatric symptoms. Diagnosis is based primarily on clinical suspicion, typical symptoms and reduced serum ceruloplasmin concentration. Treatment includes pharmacological therapies, and in some cases liver transplantation is necessary. Wilson's disease, if left untreated, inevitably leads to serious disability and death. Purpose of the work: This study aims to review and characterize the clinical and pathophysiological aspects of Wilson’s disease. Materials and methods: A comprehensive analysis of research papers available on PubMed, Google Scholar, Web of Science, Embase and Scopus was undertaken using the searchterms encompassing the following keywords: Wilson’s disease, Copper metabolism, Copper toxicity, ATP7B, Ceruloplasmin, Gene Mutation Results: Wilson's disease is a rare genetic disorder that can lead to severe disability and even death. For this reason, rapid diagnosis and appropriately selected and individualized treatment play a key role. Wilson's disease remains a major diagnostic challenge, but new techniques for its diagnosis, such as genotype analysis, mainly through sequencing, as well as newborn screening, may significantly improve patient prognosis in the future.

Acute Quetiapine Intoxication: Relationship Between Ingested Dose, Serum Concentration and Clinical Presentation-Structured Literature Review and Analysis.

Over the past decade, quetiapine has become one of the most commonly used psychotropic drugs in acute intoxication events worldwide. A structured literature review and analysis were conducted to assess the relationship between the kinetic and dynamic profiles in acute quetiapine intoxication. The correlation between dose and peak serum concentration (cmax) was determined using Pearson's correlation coefficient. Binary logistic regression was used to evaluate dose and cmax as predictors of the most common clinical events, signs and symptoms. One hundred and thirty-four cases of acute quetiapine ingestion were included in the analysis, with a median ingested dose of 10 g and a median cmax of 4 mg/L. The typical half-life was estimated to be 16.5 h, significantly longer than at therapeutic doses. For the immediate-release formulation, a biphasic disposition could not be excluded. Dose and cmax demonstrated a weak but significant correlation (r = 0.256; N = 63; p = 0.043). Central nervous system depression and tachycardia were the most common clinical signs. Higher doses and concentrations increased the risk of severe intoxication and were good predictors of intubation, tachycardia, hypotension, QTc prolongation and seizures, but not QRS prolongation, arrhythmia, heart block, hypokalaemia or acidosis. The thresholds for dose and cmax that increased the risk for individual signs and symptoms varied widely. However, doses > 3 g or cmax > 2 mg/L can be considered as alert levels that represent a high risk for severe clinical course of acute quetiapine intoxication.

Crimean-Congo hemorrhagic fever cases diagnosed during an outbreak of Sudan virus disease in Uganda, 2022-23.

In September 2022, Uganda experienced an outbreak of Sudan virus disease (SVD), mainly in central Uganda. As a result of enhanced surveillance activities for Ebola disease, samples from several patients with suspected viral hemorrhagic fever (VHF) were sent to the VHF Program at Uganda Virus Research Institute (UVRI), Entebbe, Uganda, and identified with infections caused by other viral etiologies. Herein, we report the epidemiologic and laboratory findings of Crimean-Congo hemorrhagic fever (CCHF) cases that were detected during the SVD outbreak response. Whole blood samples from VHF suspected cases were tested for Sudan virus (SUDV) by real-time reverse transcription-polymerase chain reaction (RT-PCR); and if negative, were tested for CCHF virus (CCHFV) by RT-PCR. CCHFV genomic sequences generated by metagenomic next generation sequencing were analyzed to ascertain strain relationships. Between September 2022 and January 2023, a total of 2,626 samples were submitted for VHF testing at UVRI. Overall, 13 CCHF cases (including 7 deaths; case fatality rate of 53.8%), aged 4 to 60 years, were identified from 10 districts, including several districts affected by the SVD outbreak. Four cases were identified within the Ebola Treatment Unit (ETU) at Mubende Hospital. Most CCHF cases were males engaged in livestock farming or had exposure to wildlife (n = 8; 61.5%). Among confirmed cases, the most common clinical symptoms were hemorrhage (n = 12; 92.3%), fever (n = 11; 84.6%), anorexia (n = 10; 76.9%), fatigue (n = 9; 69.2%), abdominal pain (n = 9; 69.2%) and vomiting (n = 9; 69.2%). Sequencing analysis showed that the majority of identified CCHFV strains belonged to the Africa II clade previously identified in Uganda. Two samples, however, were identified with greater similarity to a CCHFV strain that was last reported in Uganda in 1958, suggesting possible reemergence. Identifying CCHFV from individuals initially suspected to be infected with SUDV emphasizes the need for comprehensive VHF testing during filovirus outbreak responses in VHF endemic countries. Without expanded testing, CCHFV-infected patients would have posed a risk to health care workers and others while receiving treatment after a negative filovirus diagnosis, thereby complicating response dynamics. Additionally, CCHFV-infected cases could acquire an Ebola infection while in the ETU, and upon release because of a negative Ebola virus result, have the potential to spread these infections in the community.