Range Of Clinical Manifestations Research Articles

Новая коронавирусная инфекция (COVID-19) и нозологическая структура больных ревматологического отделения. Взгляд из региона

Based on the analysis of 670 archival patients' case histories of the disease, patients discharges in 2021 from the rheumatological department (there are excluded cases of repeated short-term hospitalizations in order to conduct supporting therapy of genetically engineering biological drugs), the question of the connection of rheumatic pathology with coronaviral infection and its influence on the formation of the characteristics of clinical clinicals forms of this pathology. Coronavirus infection, which occurred in the period of 6 months before hospitalization, is registered in every tenth (76–11.3 %). Three groups are highlighted: I. Patients with the diagnosis of Covid diagnosed/verified in the department and who later transferred to the specialized infectious department – 18 people (2.7 %). II. Patients who have clinical features of the disease can be interpreted as part of the so -called post-covid syndrome – 35 people (5.2 %). A clear chronological relationship of post-covid asthenia and other symptoms with subsequent (after 4 weeks) events make the role of the virus in the induction of this pathology undoubted. III. Patients with a previously established rheumatic diagnosis, and the exacerbation of a previously diagnosed disease was undoubtedly induced by coronavirus infection – 23 people (3.4 %) among those patients. The relationship of the development and exacerbation of chronic rheumatic pathology with coronavirus is actually much more often than the numbers cited in this study, but many cases of light infection were not recorded as COVID. Post-covid syndromes in rheumatology, developing at different times from the beginning of the infection, from the so called long-covid is up to six months, have a wide range of clinical manifestations. It can be assumed that the most characteristic feature of patients with post-covid syndromes who find themselves in the hospital is their uncertainty in terms of specification of the nosological form. It is significant that in 80 % of patients in whom the clinical features can be considered as part of the post-covid syndrome, such “transitional” diagnoses as inflammatory arthropathy, undifferentiated or mixed connective tissue syndrome, RS3PE syndrome and others, and only less than a smaller part of the patients examined had more outlined signs of a specific rheumatic disease.

The laboratory parameters in predicting the severity and death of COVID-19 patients: Future pandemic readiness strategies.

The range of clinical manifestations associated with the infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) encompasses a broad spectrum, ranging from flu-like symptoms to the occurrence of multiple organ failure and death. The severity of the coronavirus disease 2019 (COVID-19) is categorized based on clinical presentation and is divided into three distinct levels of severity identified as non-severe, severe, and critical. Although individuals of all age groups are susceptible to SARS-CoV-2 infection, middle-aged and older adults are more frequently impacted, with the latter being more likely to develop severe illness. Various laboratory characteristics observed in hospitalized COVID-19 patients have been correlated with adverse outcomes. These include elevated levels of D-dimer, liver enzymes, lactate dehydrogenase, C-reactive protein, ferritin, prothrombin time, and troponin, as well as decreased lymphocyte and platelets counts. This review investigated the relationship between baseline clinical characteristics, initial laboratory parameters upon hospital admission, and the severity of illness and mortality rates among COVID-19 patients. Although the COVID-19 pandemic has concluded, understanding the laboratory predictors of virus severity and mortality remains crucial, and examining these predictors can have long-term effects. Such insights can help healthcare systems manage resources more effectively and deliver timely and appropriate care by identifying and targeting high-risk individuals. This knowledge can also help us better prepare for future pandemics. By examining these predictors, we can take steps to protect public health and mitigate the impact of future pandemics.

Indicators of cerebral venous drainage with non-thrombotic disorders in extracranial veins

The growing number of studies on cerebral venous circulation disorders associated with extrinsic stenosis of the internal jugular veins, as well as attempts to surgically influence the restoration of blood flow, are an indicator of the importance of this problem. Studies show that extracranial outflow disorders are associated with a wide range of neurological clinical manifestations and may contribute to the development of congestive intracranial hypertension. Anatomical variants of the development of the extracranial venous system, constitutional insufficiency and stenosis often play similar roles in the development of disorders of the cerebral venous outflow, but differ parametrically. There are no standard diagnostic criteria for differential diagnosis, normal and pathological parameters are contradictory, and the diagnosis largely depends on the combined use of imaging techniques. The history of attempts to study disorders of the cerebral venous circulation is quite long, associated with the technical innovations in every period of time. The most non-invasive, accessible and safe tools for diagnosing non-thrombotic lesions and anomalies of the internal jugular veins are currently recognized as ultrasound scanning and MR venography in tandem. Researchers note both local hemodynamic disturbances at the level of stenosis and changes in the overall picture of the venous vascular network of the neck with certain patterns of its remodeling. The pathological significance of the compensatory expansion of nonjugular outflow tracts (vertebral, paraspinal collateral, spinal epidural veins, etc.) is still a controversial issue. MRI and ultrasound combined show a high degree of agreement between the results, which should stimulate further research into the pathophysiology and differentiation of various causes and severity of non-thrombotic lesions of the jugular veins.

Candent issues in pneumonia. Reflections from the Fifth Annual Meeting of Spanish Experts 2023.

Pneumonia is a multifaceted illness with a wide range of clinical manifestations, degree of severity and multiple potential causing microorganisms. Despite the intensive research of recent decades, community-acquired pneumonia remains the third-highest cause of mortality in developed countries and the first due to infections; and hospital-acquired pneumonia is the main cause of death from nosocomial infection in critically ill patients. Guidelines for management of this disease are available world wide, but there are questions which generate controversy, and the latest advances make it difficult to stay them up to date. A multidisciplinary approach can overcome these limitations and can also aid to improve clinical results. Spanish medical societies involved in diagnosis and treatment of pneumonia have made a collaborative effort to actualize and integrate last expertise about this infection. The aim of this paper is to reflect this knowledge, communicated in Fifth Pneumonia Day in Spain. It reviews the most important questions about this disorder, such as microbiological diagnosis, advances in antibiotic and sequential therapy, management of beta-lactam allergic patient, preventive measures, management of unusual or multi-resistant microorganisms and adjuvant or advanced therapies in Intensive Care Unit.

Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study

BackgroundNeurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. ObjectivesThis study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. MethodsThis is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. ResultsThe study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). Study limitationsCross-sectional study, conducted with a convenience sample and using self-reported measures. ConclusionsThe findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.

Myocarditis in children.Etiology. Pathogenesis. Epidemiology. Clinical presentation

Readers will be presented with a series of articles on myocarditis in children, which are based on clinical guidelines developed by a group of authors on this topic. Myocarditis is an inflammatory myocardial disease characterized by a wide range of clinical manifestations — from minor to sudden cardiac death. Given the absence of pathognomonic symptoms, as well as the similarity of manifestations in the onset with common childhood diseases such as respiratory distress, gastrointestinal diseases, infectious pathology, specialists often overlook the likelihood of a diagnosis of “myocarditis”, which causes a late start of therapy and an adverse outcome. Considering that myocarditis accounts for 12% of cases of sudden cardiac death in adolescents and young adults, suspicion of this disease in differential diagnosis in children with nonspecific symptoms and disease progression may be the key to the formation of a proper treatment strategy. Despite significant advances in the study of myocarditis in both adults and children, there are still many unresolved issues. The purpose of this article is to highlight the current view of the etiology, pathogenesis, epidemiology and clinical features in children with various types of myocarditis in order to increase the knowledge of practitioners for better clinical management of patients with myocarditis.

SYSTEMIC LUPUS ERYTHEMATOSUS: UPDATE ΟN THE DIAGNOSIS, PREVALENCE, CLINICAL MANAGEMENT, INFLAMMATORY MARKERS, NEW HORIZONS IN THE PATHOGENESIS, MANIFESTATIONS AND PROGRESS IN TREATMENT

Introduction: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multisystem involvement, generating chronic inflammation and damage of more than one organ. It is usually clinically and serologically diagnosed with the presence of autoantibodies. Lupus is a Latin term meaning wolf, due to the fact that the typical facial eruptions of the pathology are very similar to the bite marks of a wolf. Objective: to detail the current information related to systemic lupus erythematosus, description, etiology, epidemiology, pathophysiology, histology, classification, clinical manifestations, treatment and differential diagnosis. Methodology: a total of 45 articles were analyzed in this review, including review and original articles, as well as clinical cases, of which 35 bibliographies were used because the other articles were not relevant to this study. The sources of information were PubMed, Google Scholar and Cochrane; the terms used to search for information in Spanish, Portuguese and English were: lupus, SLE, autoimmune, multisystemic. Results: Familial segregation and high concordance rates in identical twins strongly suggest a genetic contribution to SLE, however there is no obvious pattern of inheritance. Females have 10 times the risk of developing SLE compared to males. Lupus in males is less common but has a propensity to be more severe. About 80 to 90% of individuals with SLE show musculoskeletal involvement in the course of the disease, ranging from mild arthralgias to deforming arthritis. Avascular necrosis with or without the use of steroids may occur in 10% of individuals with SLE and is most often bilateral and affects the hip joints. Conclusions: systemic lupus erythematosus presents a wide range of clinical and histopathologic manifestations. Adequate education of affected individuals with systemic lupus erythematosus about the possible clinical manifestations can lead to early recognition and intervention, which may prevent potential significant organ damage. The role of markers and autoantibodies in the differential diagnosis of the pathology is essential. Treatment of SLE is aimed at preventing organ damage and achieving remission. The choice of treatment will depend on the altered organ system(s) and the extent of the involvement. Education of the affected individual, physical measures, lifestyle and emotional support play an important role in the comprehensive treatment of SLE. KEY WORDS: lupus, SLE, autoimmune, manifestations, treatment.

Deciphering the structure of a multi-drug resistant Acinetobacter baumannii short-chain dehydrogenase reductase.

The rapidly increasing threat of multi-drug-resistant Acinetobacter baumannii infections globally, encompassing a range of clinical manifestations from skin and soft tissue infections to life-threatening conditions like meningitis and pneumonia, underscores an urgent need for novel therapeutic strategies. These infections, prevalent in both hospital and community settings, present a formidable challenge to the healthcare system due to the bacterium's widespread nature and dwindling effective treatment options. Against this backdrop, the exploration of bacterial short-chain dehydrogenase reductases (SDRs) emerges as a promising avenue. These enzymes play pivotal roles in various critical bacterial processes, including fatty acid synthesis, homeostasis, metabolism, and contributing to drug resistance mechanisms. In this study, we present the first examination of the X-ray crystallographic structure of an uncharacterized SDR enzyme from A. baumannii. The tertiary structure of this SDR is distinguished by a central parallel β-sheet, consisting of seven strands, which is flanked by eight α-helices. This configuration exhibits structural parallels with other enzymes in the SDR family, underscoring a conserved architectural theme within this enzyme class. Despite the current ambiguity regarding the enzyme's natural substrate, the importance of many SDR enzymes as targets in anti-bacterial agent design is well-established. Therefore, the detailed structural insights provided in this study open new pathways for the in-silico design of therapeutic agents. By offering a structural blueprint, our findings may provide a platform for future research aimed at developing targeted treatments against this and other multi-drug-resistant infections.

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.

Wilson's disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver, brain, and other organs. The disease is caused by pathogenic variants in the ATP7B gene, which encodes a P-type copper transport ATPase. Diagnosing WD is associated with numerous difficulties due to the wide range of clinical manifestations and its unknown dependence on the physiological characteristics of the patient. This leads to a delay in the start of therapy and the subsequent deterioration of the patient's condition. However, in recent years, molecular genetic testing of patients using next generation sequencing (NGS) has been gaining popularity. This immediately affected the detection speed of WD. If, previously, the frequency of this disease was estimated at 1:35,000-45,000 people, now, when conducting large molecular genetic studies, the frequency is calculated as 1:7026 people. This certainly points to the problem of identifying WD patients. This review provides an update on the performance of epidemiological studies of WD and describes normal physiological functions of the protein and diversified disfunctions depending on pathogenic variants of the ATP7B gene. Future prospects in the development of WD genetic diagnostics are also discussed.

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.

Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B : a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c.1692_1694delCTC; (p.Ser565del)] leading to removal of a serine residue in family 2, and a splice donor site variant in intron eight of UBE3B (c.630 + 1G>T) in family 3. Blepharophimosis, telecanthus, ptosis, intellectual disability and abnormal lipid profile were similar to those found in previously reported KOS patients. Longitudinal follow-up revealed rather marfanoid body habitus of the patients in family 1. This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3B and adds to the phenotypic spectrum of KOS.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown. We report here 4 fetuses from 2 unrelated families presenting with ventriculomegaly at prenatal ultra-sonography as well as an aqueduct stenosis and skeletal abnormalities as revealed by fetal autopsy. Genome sequencing identified biallelic pathogenic variations in LIG4, a DNA-repair gene responsible for the LIG4 syndrome which associates a wide range of clinical manifestations including developmental delay, microcephaly, short stature, radiation hypersensitivity and immunodeficiency. Thus, not only this report expands the phenotype spectrum of LIG4-related disorders, adding ventriculomegaly due to aqueduct stenosis, but we also provide the first neuropathological description of fetuses carrying LIG4 pathogenic biallelic variations.

Comparison of the effect of topical triamcinolone 0.1% cream with sulfur 2.0% cream in the treatment of patients with hand eczema: A randomized controlled trial.

Hand eczema (HE) is a common and heterogeneous condition. It has a wide range of etiologies and clinical manifestations. In this study the efficacy of triamcinolone 0.1% cream and sulfur 2% creams was compared in treating patients with HE. This randomized, triple-blind clinical trial was performed on 70 patients with HE (including 70 right and 70 left hands). In this study, two creams were used including triamcinolone 0.1% and sulfur 2.0%. Patients were treated with these creams twice a day (once in every 12 h) for 4 weeks. Follow-up was 4 weeks after treatment. Hand Eczema Severity Index (HECSI), itching, dryness, burning sensation, and erythema scores were collected three times during the study and compared between treatment regimens. Findings showed that both triamcinolone (0.1%) and sulfur (2.0%) creams could significantly reduce the scores of HECSI, itching, dryness, burning sensation, and erythema, and the therapeutic effects lasted for at least 4 weeks after cessation of topical treatment. Topical sulfur cream (2.0%) is as effective as triamcinolone (0.1%) cream in treatment of HE without any prominent adverse reactions.

Molecular characterization of human bocavirus in municipal wastewaters using amplicon target sequencing

Human bocavirus (HBoV) is an emerging health concern worldwide, associated with range of clinical manifestations, including gastroenteritis and respiratory infections. Therefore, it is crucial to comprehend and minimize their prevalence in different systems. In this study, we conducted regular sampling throughout the year in two different sizes and work processes of wastewater treatment plants (WWTPs) in Tianjin, China. Our objective was to investigate the occurrence, prevalence, and endurance of HBoV in wastewater, while also evaluating the efficacy of amplicon target sequencing in directly detecting HBoV in wastewater. At two WWTPs, HBoV2 (45.51 %—45.67 %) and HBoV3 (38.30 %—40.25 %) were the most common genotypes identified, and the mean concentration range of HBoV was 2.54—7.40 log10 equivalent copies/l as determined by multiplex real-time quantitative PCR assay. A positive rate of HBoV was found in 96.6 % (29/30) samples of A-WWTP, and 96.6 % (26/27) samples of B-WWTP. The phylogenetic analysis indicated that the nucleotide similarity between the HBoV DNA sequences to the reference HBoV sequences published globally ranged from 90.14 %—100 %. A significant variation in the read abundance of HBoV2 and HBoV3 in two wastewater treatment plants (p < 0.05) was detected, specifically in the Winter and Summer seasons. The findings revealed a strong correlation between the genotypes detected in wastewater and the clinical data across various regions in China. In addition, it is worth mentioning that HBoV4 was exclusively detected in wastewater and not found in the clinical samples from patients. This study highlights the high prevalence of human bocavirus in municipal wastewater. This finding illustrates that amplicon target sequencing can amplify a wide variety of viruses, enabling the identification of newly discovered viruses.

Exploring the Perspectives of Patients Living With Lupus: Retrospective Social Listening Study.

Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease affecting various organs with a wide range of clinical manifestations. Cutaneous lupus erythematosus (CLE) can manifest as a feature of SLE or an independent skin ailment. Health-related quality of life (HRQoL) is frequently compromised in individuals living with lupus. Understanding patients' perspectives when living with a disease is crucial for effectively meeting their unmet needs. Social listening is a promising new method that can provide insights into the experiences of patients living with their disease (lupus) and leverage these insights to inform drug development strategies for addressing their unmet needs. The objective of this study is to explore the experience of patients living with SLE and CLE, including their disease and treatment experiences, HRQoL, and unmet needs, as discussed in web-based social media platforms such as blogs and forums. A retrospective exploratory social listening study was conducted across 13 publicly available English-language social media platforms from October 2019 to January 2022. Data were processed using natural language processing and knowledge graph tagging technology to clean, format, anonymize, and annotate them algorithmically before feeding them to Pharos, a Semalytix proprietary data visualization and analysis platform, for further analysis. Pharos was used to generate descriptive data statistics, providing insights into the magnitude of individual patient experience variables, their differences in the magnitude of variables, and the associations between algorithmically tagged variables. A total of 45,554 posts from 3834 individuals who were algorithmically identified as patients with lupus were included in this study. Among them, 1925 (authoring 5636 posts) and 106 (authoring 243 posts) patients were identified as having SLE and CLE, respectively. Patients frequently mentioned various symptoms in relation to SLE and CLE including pain, fatigue, and rashes; pain and fatigue were identified as the main drivers of HRQoL impairment. The most affected aspects of HRQoL included "mobility," "cognitive capabilities," "recreation and leisure," and "sleep and rest." Existing pharmacological interventions poorly managed the most burdensome symptoms of lupus. Conversely, nonpharmacological treatments, such as exercise and meditation, were frequently associated with HRQoL improvement. Patients with lupus reported a complex interplay of symptoms and HRQoL aspects that negatively influenced one another. This study demonstrates that social listening is an effective method to gather insights into patients' experiences, preferences, and unmet needs, which can be considered during the drug development process to develop effective therapies and improve disease management.

Case report: juvenile paracoccidioidomycosis with intestinal involvement

Introduction: Contact of Paracoccidioides sp. with the human organism presents in a variety of clinical forms of the disease. Intestinal clinical manifestation is found in 10 to 30% of cases, commonly in juvenile form. This case report seeks to describe a patient with juvenile paracoccidioidomycosis with atypical intestinal involvement. Case report: A 14 years old woman with an updated vaccination schedule and no reports of chronic diseases, allergies or continued use of medications, presented a diarrheal condition that was characterized by pasty stools, where episodes became gradually more intense, associated with episodes of hematochezia, retroauricular lymphadenopathy on the right, as well as shivering and fever. A colonoscopy revealed multiple polypoid formations, ulcerations and friability throughout the colon. After biopsy results, the diagnosis of Paracoccidioidomycosis with intestinal involvement was established. Due to the wasting syndrome, anemia and persistent diarrhea, the patient was hospitalized for blood transfusion and intravenous treatment with conventional Amphotericin B. Discussion: Unlike what was presented by the patient in this case, involvement of the gastrointestinal tract is uncommon in paracoccidioidomycosis. This disease presents a range of clinical manifestations, which makes diagnosis difficult. Since this type of infection is not always considered, it may result in underdiagnosed cases, especially in women and young adults. The prognosis depends on the initial severity of the disease, the presence of comorbidities and the treatment used. Conclusion: Especially for the intestinal form, earlier treatment will better the results. The disease has a good chance of effective treatment using antifungal therapy.

Refractory Hypokalemia Revealing Cushing’s Syndrome and Persisting after Bilateral Adrenalectomy: A Case Report and Review of the Literature

Cushing's syndrome (CS), a rare endocrine disorder, is characterized by a diverse range of clinical manifestations due to prolonged exposure to excess glucocorticoids. CS can be divided into ACTH-dependent and ACTH-independent types, with varying degrees of clinical severity. Biochemical abnormalities, such as hypokalemia, are associated with CS, potentially resulting from the mineralocorticoid effects of cortisol. We present a unique case of Cushing's disease with a prominent and persistent feature of hypokalemia, even after a successful bilateral adrenalectomy. The patient's clinical presentation included sudden abdominal obesity, lumbago, polyuria, polydipsia, chronic constipation, muscle cramps, and profound weakness. Early diagnostic evaluation revealed severe hypokalemia requiring treatment. Despite bilateral adrenalectomy, hypokalemia persisted postoperatively, necessitating ongoing potassium supplementation. This case highlights the complex interplay of hormones in CS and the need for comprehensive clinical and biochemical assessments. Hypokalemia is prevalent in Cushing's syndrome (CS), typically resulting from renal potassium loss, influenced by cortisol's mineralocorticoid-like effects. Additionally, ACTH might inhibit 11β-HSD2, allowing cortisol to act as a mineralocorticoid. Persistent hypokalemia in our ACTH-dependent CS case, even after bilateral adrenalectomy, raises questions about the role of ACTH and 11β-HSD2. Further research is needed to clarify these mechanisms and their relationship with CS.

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

BackgroundH Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes. The condition also features cardiac and endocrine defects, as well as hearing loss, for which the immune pathogenesis appears less clear. Immunomodulatory medications have been shown to improve many symptoms in recent experiences.Case presentationA 21-year-old girl was referred to our institute after being diagnosed with H syndrome. Her medical history was characterized by the development of finger and toe deformities, which developed since the first years of life and progressively worsened with clinodactyly. At 6 years of age, she was diagnosed with diabetes mellitus without typical autoantibodies and with bilateral sensorineural hearing loss. She also complained of frequent episodes of lymphadenopathy, sometimes with colliquation and growth retardation due to pancreatic insufficiency. It wasn’t until the genetic diagnosis of H syndrome that the continual increase in acute phase reactants was noticed, suggesting that an immunological pathogenesis may be the source of her problems. During her visit to our institute, she reported serious pain in both feet and hands and difficulty walking due to knee arthritis and muscle contractures. Conventional therapy with steroid injection in affected joints and methotrexate only led to partial improvement. After a thorough assessment of her inflammatory profile showing a high interferon score, the girl received treatment with baricitinib. Furthermore, based on recent data showing that SLC29A3 deficiency results in interferon production because of Toll-like Receptor 7 activation in lysosomes, hydroxychloroquine was also added. The combination of the two drugs resulted for the first time in a rapid and persistent normalization of inflammatory markers, paralleled by a dramatic improvement in symptoms.ConclusionsWe describe the results of inhibiting IFN inflammation in H syndrome and discuss how JAK inhibitors and antimalarials might represent a mechanistically based treatment for this orphan drug disorder.

Recent Advances and Updates in Rhabdomyolysis: A Comprehensive Review

Rhabdomyolysis (RML) is a complex clinical syndrome marked by the breakdown of skeletal muscle cells, with historical recognition dating back to biblical times and modern understanding evolving since World War II. This comprehensive review explores the diverse landscape of RML, encompassing its epidemiology, etiology, pathogenesis, clinical manifestations, diagnosis, treatment, and prognosis. As a result of trauma or non-traumatic muscle injuries, pathogenesis involves the release of intracellular components into the bloodstream. Epidemiologically, RML exhibits demographic nuances, emphasizing the importance of recognizing risk factors for prevention. Clinical manifestations range from the classic triad of muscle pain, weakness, and dark urine to diverse presentations. Diagnosis involves evaluating elevated creatine kinase levels and myoglobinuria, with management strategies focusing on fluid balance, AKI prevention, and addressing underlying causes. The prognosis is diverse, influenced by complications such as AKI, with various scoring systems aiding risk assessment. Prevention and treatment strategies include a multifaceted approach, integrating tailored warm-ups, mindful exercise, education, and dietary modifications. Overall, the prognosis for RML remains favorable, underscoring the significance of meticulous management. This review provides a comprehensive understanding of RML, bridging historical insights with contemporary medical strategies and guiding ongoing research and advancements in patient care for this intricate condition. RML serves as a paradigm for integrating nuanced historical perspectives and modern medical approaches, highlighting the intricate balance required for effective management in clinical practice.

Recent Advances and Updates in Rhabdomyolysis: A Comprehensive Review

Rhabdomyolysis (RML) is a complex clinical syndrome marked by the breakdown of skeletal muscle cells, with historical recognition dating back to biblical times and modern understanding evolving since World War II. This comprehensive review explores the diverse landscape of RML, encompassing its epidemiology, etiology, pathogenesis, clinical manifestations, diagnosis, treatment, and prognosis. As a result of trauma or non-traumatic muscle injuries, pathogenesis involves the release of intracellular components into the bloodstream. Epidemiologically, RML exhibits demographic nuances, emphasizing the importance of recognizing risk factors for prevention. Clinical manifestations range from the classic triad of muscle pain, weakness, and dark urine to diverse presentations. Diagnosis involves evaluating elevated creatine kinase levels and myoglobinuria, with management strategies focusing on fluid balance, AKI prevention, and addressing underlying causes. The prognosis is diverse, influenced by complications such as AKI, with various scoring systems aiding risk assessment. Prevention and treatment strategies include a multifaceted approach, integrating tailored warm-ups, mindful exercise, education, and dietary modifications. Overall, the prognosis for RML remains favorable, underscoring the significance of meticulous management. This review provides a comprehensive understanding of RML, bridging historical insights with contemporary medical strategies and guiding ongoing research and advancements in patient care for this intricate condition. RML serves as a paradigm for integrating nuanced historical perspectives and modern medical approaches, highlighting the intricate balance required for effective management in clinical practice

Gardner Syndrome: A Diagnosis Approach, Clinical Evolution and Review

Introduction: Gardner Syndrome is characterized as an autosomal and dominant genetic mutation. Case Presentation: A 28-year-old man from the state of Gioias arrived at the emergency room accompanied by family members, complaining of recurrent diarrhoea with the presence of mucus and blood, in addition to cramps, abdominal distension, rectal tenesmus and episodes of metrorrhagia. After a thorough investigation, the patient reported having a lesion of about 2 cm in size on the left frontal region, with a firm and fixed consistency, which appeared more than 2 years ago and suggests bone involvement. He also mentioned having sought medical attention 5 years ago due to dental problems and recurrent skin lesions, characterized by cystic lesions, but there was no further investigation at the time. Discussion: It is a syndrome with a variant of familial adenomatous polyposis, presenting a wide range of clinical manifestations, with significant intestinal involvement, as well as osteomas and soft tissue tumours, which in general precede the intestinal clinical picture. The diagnosis of Gardner's Syndrome is made with multiple tools, involving clinical, radiological, endoscopic and genetic exams, and, being early, there is a significant improvement in prognosis. In order to avoid the malignant progression of intestinal polyps, prophylactic colectomy is indicated in most cases, but it is necessary to individualize the follow-up according to the phenotype of the disease. Conclusion: Patients with GS should be screened for intracolonic malignancy annually, as desmoid tumours are a common feature of GS/FAP, resulting in significant morbidity. and even mortality. Thus, early diagnosis, once again, will contribute to a better quality of life in the long term.