Group Of Diseases Research Articles

Urticaria Pigmentosa – A Case Report with a Review of the Literature

Mastocytosis encompasses a rare group of diseases characterized by the accumulation of mast cells, primarily in the skin or internal organs. In the 2016 revised WHO classification, mastocytosis is divided into cutaneous mastocytosis (CM), systemic mastocytosis (CM), and localized mast cell tumor. Cutaneous mastocytosis (CM) includes maculo-papular CM/urticaria pigmentosa (UP), diffuse CM and cutaneous mastocytoma. Urticaria pigmentosa is the most common skin variant. It presents with erythematous brownish macules or papules, often accompanied by pruritus. A case of a 48-year-old woman with disseminated, mildly pruritic, sharply demarcated, livid-brownish macules on the skin of the trunk and extremities is presented. A positive Darier symptom was established. Laboratory tests revealed granulocytosis (73%) and lymphocytosis (19.8%). Serum tryptase and 24-hour urine 5-hydroxyindoleacetic acid were not elevated. The diagnosis of urticaria pigmentosa was confirmed by the histopathological examination revealing perivascular infiltrates of mast cells, mainly in the deep dermis. Screening performed did not detect systemic involvement. Symptomatic treatment with H1 and H2 blockers and topical corticosteroid was carried out. Avoidance of triggers is recommended. The patient's condition has improved. Both a historical review of mastocytosis and a revised classification, as well as the epidemiology, etiology with triggering factors, clinical presentation, laboratory investigations, and management of urticaria pigmentosa are presented.

Clinical Study and Microbiological Analysis of Periodontopathogenic Microflora Analyzed among Children and Adolescents with Cardiovascular Diseases Compared to Group with Good General Status.

Periodontal diseases, as an important part of oral pathology, present different characteristics when affecting children and adolescents or young adults. Studies have shown that adolescence and childhood are closely related to a high risk of periodontal disease, but the follow-up for periodontal health or damage at this age has been insufficiently appreciated until now. The aim of this study was to identify subgingival microorganisms using a real-time polymerase chain reaction (PCR) in a group of children and adolescents aged 7-17 years with and without cardiovascular disease. The group of 62 subjects with gingival inflammation and poor hygiene was divided into two groups according to general condition: 31 subjects with carduivascular disease (group A) and 31 subjects without cardiovascular disease (group C). Subjects were examined in the initial consultation, the state of hygiene and periodontal inflammation was assessed using the plaque index (PI) and gingival index (GI), and samples were taken from the gingival sulcus using sterile paper cones to determine nine subgingival microorganisms. Nine subgingival microorganisms were identified: Aggregatibacter actinomycetemcomitans (Aa), Porphyromonas gingivalis (Pg), Treponema denticola (Td), Tannerella forsythias (Tf), Prevotella intermedia (Pi), Peptostreptococcus (Micromonas) micros (Pm), Fusobacterium nucleatum (Fn), Eubacterium nodatum (En), and Capnocytophaga gingivalis (Cg). The patients were included in a specialist treatment program which aimed to relieve the inflammatory condition, remove local irritative factors, and train the patients to perform proper oral hygiene at home by using primary and secondary oral hygiene products. Subjects were reevaluated 3 months after treatment, when measurements for the PI and GI and microbiological determinations were repeated. The results showed a predominance of subjects aged 16-17 years (12.4%). Among the subjects with marked gingival inflammation, the male gender was predominant (58.06%). The PI values changed considerably after treatment, with lower values in patients presenting a general condition without cardiovascular disease (PI = 8.10%) compared with the patients with cardiovascular disease (PI = 13.77%). After treatment, the GI showed considerable changes in both groups. Red, orange, and purple complex microorganisms were found before treatment and decreased considerably after treatment in both groups. The highest values were found for Treponema denticola (140,000 (1.4 × 105)) in patients with cardiovascular disease and generalized gingival inflammation. Of the pathogenic microorganisms, the most common was Tannerella forsythia in 52 patients before treatment, and red microorganisms considerably appeared in only 10 patients after treatment. Capnocytophaga gingivalis remained constant both in the diseased state and after treatment and was consistent with periodontal health. Children with cardiovascular diseases had a higher prevalence of gingival manifestations. The composition of the subgingival microbial plaque was directly influenced by the degree of oral hygiene, but the response to specialized treatment was also influenced by the general health status. The results of this study support the conclusion that periodontal pathogens appear and multiply in the absence of proper hygiene in childhood after the eruption of permanent teeth, and their action leads to the initiation of periodontal diseases.

IgE sensitization to Blo t 21 and Blo t 5 is associated with asthma in the tropics: a case-control study.

Blomia tropicalis sensitization is associated with asthma in different tropical and sub-tropical countries; however, information about the specific molecular components associated with this disease is scarce. Using molecular diagnosis, we sought to identify B. tropicalis allergens associated with asthma in Colombia. Specific IgE (sIgE) to eight B. tropicalis recombinant allergens (Blo t 2/5/7/8/10/12/13 and 21) was determined using an in-house developed ELISA system in asthmatic patients (n=272) and control subjects (n=298) recruited in a national prevalencestudy performed in Colombian cities (Barranquilla, Bogotá, Medellín, Cali and San Andrés). Sample study included children and adults (mean age: 28±SD 17 years old). Cross-reactivity between Blot 5 and Blo t 21 was evaluated by ELISA-inhibition. Sensitization to Blo t 21 (aOR: 1.9; 95% CI: 1.2 - 2.9) and Blo t 5 (aOR: 1.6; 95%CI: 1.1 - 2.5), but not Blo t 2, was associated with asthma. sIgE levels to Blo t 21 and to Blo t 5 were significantly higher in the disease group. Cross-reactivity between Blo t 21 and Blo t 5 is on average moderate; however, individual analysis indicates that may be high (>50%) in some cases. Although Blo t 5 and Blo t 21 has been described as common sensitizers, this is the first report of their association with asthma. Both components should be included in molecular panels for allergy diagnosis in the tropics.

ETMR-31. A UNIQUE CASE OF CNS DIFFUSE, NON-SYSTEMIC ALK+ HISTIOCYTOSIS IN A PEDIATRIC PATIENT

Abstract BACKGROUND Histiocytic disorders are a group of rare diseases with accumulation of of macrophages, monocytes, or dendritic cells in various parts of the body. ALK-positive histiocytosis is a rare subtype of histiocytic neoplasm first described in 2008 that is very rarely described in pediatrics. METHODS A 20 month old male presented to an adult hospital after a prolonged period of headaches, vomiting, and loss of developmental milestones. Imaging demonstrated severe hydrocephalus and extensive thickened leptomeningeal enhacement with mass effect. He underwent VP shunt placement and revision, a T7-T10 laminectomy, and tumor debulking. Extensive molecular testing, including DNA and RNA analysis by NGS was performed and a CLTC::ALK fusion was identified, along with Tier III DNA variants, yielding a diagnosis consistent with ALK-Positive Histiocytosis, with diffusivity in the CNS system. Full evaluation demonstrated no involvement of the peripheral nervous system or other systemic involvement. He initially demonstrated signs of neuro-irritation, altered tone, and lower extremity clonus. RESULTS After review of very little literature published on similar patients, although none with a clinical picture matching his, he was started on a treatment course of high dose dexamethasone, vinblastine, and lorlatinib targeting the ALK+, likely driver, mutation of his disease. On evaluation scans two months into treatment, he showed no change in his disease burden. He was transitioned to clofarabine cycles with daily lorlatinib for continued targetted therapy. After six total cycles, he demonstrated a high partial to complete remission (allowing for evidence of scarred tissue) and tremendous neurologic and developmental milestone gains. CONCLUSIONS This case demonstrates a unique presentation in which there is little described in the literature in way of clinical features or treatment standards, and further none exactly similar to this patient. After undergoing extensive evaluation and therapy modication, he responded remarkably well and continues to have optimal quality of life.

Liver gene transfer for metabolite detoxification in inherited metabolic diseases.

Inherited metabolic disorders (IMDs) are a growing group of genetic diseases caused by defects in enzymes that mediate cellular metabolism, often resulting in the accumulation of toxic substrates. The liver is a highly metabolically active organ that hosts several thousands of chemical reactions. As such, it is an organ frequently affected in IMDs. In this article, we review current approaches for liver-directed gene-based therapy aimed at metabolite detoxification in a variety of IMDs. Moreover, we discuss current unresolved challenges in gene-based therapies for IMDs.

Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population

BackgroundChronic Obstructive Pulmonary Disease (COPD) describes a group of progressive lung diseases causing breathing difficulties. While COPD development typically involves a complex interplay between genetic and environmental factors, genetics play a role in disease susceptibility. This study used genome-wide association studies (GWAS) and polygenic risk score (PRS) to elucidate the genetic basis for COPD in Taiwanese patients.ResultsGWAS was performed on a Taiwanese COPD case–control cohort with a sample size of 5,442 cases and 17,681 controls. Additionally, the PRS was calculated and assessed in our target groups. GWAS results indicate that although there were no single nucleotide polymorphisms (SNPs) of genome-wide significance, prominent COPD susceptibility loci on or nearby genes such as WWTR1, EXT1, INTU, MAP3K7CL, MAMDC2, BZW1/CLK1, LINC01197, LINC01894, and CFAP95 (C9orf135) were identified, which had not been reported in previous studies. Thirteen susceptibility loci, such as CHRNA4, AFAP1, and DTWD1, previously reported in other populations were replicated and confirmed to be associated with COPD in Taiwanese populations. The PRS was determined in the target groups using the summary statistics from our base group, yielding an effective association with COPD (odds ratio [OR] 1.09, 95% confidence interval [CI] 1.02–1.17, p = 0.011). Furthermore, replication a previous lung function trait PRS model in our target group, showed a significant association of COPD susceptibility with PRS of Forced Expiratory Volume in one second (FEV1)/Forced Vital Capacity (FCV) (OR 0.89, 95% CI 0.83–0.95, p = 0.001).ConclusionsNovel COPD-related genes were identified in the studied Taiwanese population. The PRS model, based on COPD or lung function traits, enables disease risk estimation and enhances prediction before suffering. These results offer new perspectives on the genetics of COPD and serve as a basis for future research.

Retrospective renal sonographic study: assessment of renal volume and resistance index

Background. Renal ultrasound is a convenient, safe, and affordable tool for visualization of the kidneys in the daily practice of nephrologists and doctors of other specialties. Kidney volume, which is calculated by the sonographic method, gives an idea about the state of the kidneys of the patient, but says almost nothing about their function. There are many studies of renal index of resistance (IR) as a marker of kidney function. IR values were compared with serum creatinine levels and/or histological data. And although conflicting research data limit the use of IR as a marker of kidney function, correct interpretation of IR helps restore it to the status of a candidate marker of kidney function. The purpose of the study: to conduct a retrospective analysis of the sonographic renal parameters in patients who sought outpatient medical care at the Brovary medical institution. Materials and methods. Retrospective randomized cohort study was conducted of sonograms of 66 outpatients who sought outpatient medical care at a private medical facility in Brovary from February 2022 to February 2024. They were divided into 2 groups: the first one (n = 31) — men and the second group (n = 35) — wo­men. Results. The results of multiple linear regression in the group 1 for right kidney (RK) showed that the independent variable in this model, RK thickness, is of low significance as a predictor for IR RK, and the following independent variables were not significant as predictors for IR RK: RK length, RK width, RK volume, age. Multiple linear regression results in the group 1 for left kidney (LK) indicate that the independent variable in this model, LK width, is moderately significant as a predictor for LK IR, and the following independent variables were not significant as predictors for LK IR: LK length, LK thickness, LK volume, age. Multiple linear regression results in the group 2 for RK showed that the independent variables in this model, RK width and age, are significant as predictors for IR RK, and the following independent variables were not significant as predictors for IR RK: RK length, RK thickness, RK volume. Multiple linear regression results in the group 2 for LK indicate that the independent variable in this model, LK width, is moderately significant as a predictor for LK IR, and the following independent variables were not significant as predictors for LK IR: LK length, LK thickness, LK volume, age. Conclusions. Renal ultrasound allows predicting the category of patients who will need a consultation with a nephrologist/urologist, identifying risk groups for chronic kidney disease.

Prevalence of faecal incontinence in patients with inflammatory bowel disease: Severity and its relationship with quality of life.

To describe the prevalence of faecal incontinence in patients with inflammatory bowel disease, assess its severity, and correlation with quality of life. We adhered to relevant EQUATOR guidelines, STROBE method. Correlational-descriptive study. Hebrew-speaking patients seen at an inflammatory bowel disease clinic in a large tertiary medical center in Jerusalem between February 2020 and December 2020 completed the Faecal Incontinence Severity Index and the Faecal Incontinence Quality of Life Scale. Ninety-six patients participated in the study, of which 70 (72.9%) had Crohn's disease, and 26 (27.1%) had ulcerative colitis. Eighty-five (88.5%) reported faecal incontinence with an overall Faecal Incontinence Severity Index mean of 27.66 (SD 15.99), yet only 14 (14.7%) reported that their physician or nurse inquired about faecal incontinence. Quality of life scores for patients with faecal incontinence was the lowest on the coping/behaviour scale (M = 2.44; SD 0.94) and the highest on the depression/self-perception scale (M = 2.86; SD 1.04). Significant correlations were found between faecal incontinence severity and quality of life in all scales except for self-embarrassment. Moderate correlations in the same scales were noted in patients with Ulcerative Colitis, while no significant correlations were found in the Crohn's Disease group. A high proportion of inflammatory bowel disease patients reported faecal incontinence associated with impaired quality of life. Only a few were questioned about faecal incontinence by their physician or nurse. There is limited literature regarding the prevalence and severity of faecal incontinence in inflammatory bowel disease patients. A high proportion of patients reported faecal incontinence, which negatively correlated with quality of life. Physicians and nurses must inquire about faecal incontinence to improve patient care. No patient or public contribution.

An Extensive Analysis of Diseases Associated with Diabetes

Diabetes mellitus (DM) is a chronic disease marked by hyperglycemia and a range of clinical neuropathies, as well as microvascular disease of the kidney and eye. Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic diseases characterized by persistently elevated blood sugar levels. In both developed and developing nations, the prevalence of the disorder is rapidly spiraling out of control. A major metabolic illness that currently affects over 350 million people worldwide is diabetes mellitus (DM). These metabolic abnormalities are caused by inadequate insulin secretion, resulting in insufficient response and/or insulin resistance of target tissues, primarily the liver, adipose tissue, and skeletal muscles, at the level of insulin receptors, signal transduction systems, and/or effector enzymes or genes. Modern lifestyle choices like a diet rich in fat, physical inactivity, and heredity are particularly associated with T2DM. Numerous complications can arise from untreated diabetes. The fundamental role of insulin as an anabolic hormone leads to disturbances in protein, lipid, and carbohydrate metabolism. Our goal in this review is to highlight several issues, cellular, subcellular, and molecular mechanisms, as well as cascades or pathways (polyol, hexosamine, advanced glycation-end product etc.) of events linked to DM-induced hyperglycemia.

Management of Cancer in the Digestive System

Cancer is a non-communicable disease characterized by the presence of abnormal cells/tissues that are malignant, grow quickly and uncontrollably and can spread to other places in the patient's body. Cancer cells are malignant and can invade and damage the function of the tissue. Digestive cancer, also called gastrointestinal cancer, attacks the organs of the digestive system. Digestive cancer also includes gastrointestinal cancer, liver cancer, stomach cancer, colorectal cancer, and pancreatic cancer. Risk factors for digestive cancers are varied because many different organs can be affected. Some factors that contribute to cancer throughout the digestive system include age, heavy drinking (alcohol), smoking, and diabetes sufferers. This type of liver cancer is cancer that grows in liver cells. Liver cancer is a type of cancer that ranks second as the cancer that causes the most deaths in the world. Gastric cancer is a group of malignant diseases that have multifactorial causes, namely genetic, lifestyle and environmental factors. The symptoms caused by stomach cancer are initially not as typical as the symptoms of general digestive complaints. The diagnosis of colorectal cancer can be carried out in stages, including through an appropriate history, physical examination, and supporting examinations in the form of laboratory examinations, both from clinical laboratories and anatomical pathology laboratories. The etiology of colorectal cancer is currently still unknown. Symptoms of colorectal cancer are varied and non-specific. The main complaints of patients with colorectal cancer relate to the size and location of the tumor. Tumors in the right colon, where the contents of the colon are fluid, tend to remain hidden until they are very advanced.

Cancer and Artificial Intelligence

Cancer is a multifactorial group of diseases that are known to affect human life with incidence and mortality rates. Artificial Intelligence and the development of new strategies in cancer treatment are of great importance in helping physicians apply optimized treatment tailored to the patient, overcoming both physical and psychological difficulties, and preventing the recurrence and spread of the disease. Thanks to the field of health and Artificial Intelligence, which are integrated with current developments in coordination with each other, great advances have been made and continue to be made in the diagnosis, treatment and prognosis of cancer, one of the major problems of our age.

Unraveling the role of the vitamin D-VDR pathway in pemphigus vulgaris from Tunisian patients

Vitamin D dysregulation has been recognized as a factor that may cause or aggravate autoimmunity. Vitamin D deficiency was found to be common in pemphigus vulgaris (PV) in different populations. This study aimed to investigate the vitamin D-VDR pathway in PV in the Tunisian population.A serological study was carried out to determine the vitamin D status in newly diagnosed PV patients. CYP27B1, CYP24A1 and VDR mRNA expression was assessed using quantitative real-time PCR in peripheral blood mononuclear cells (PBMC) from untreated newly diagnosed and treated PV patients. In addition, a genetic study was accomplished on VDR polymorphisms to investigate the changes in VDR gene expression. Overall, the serological study confirmed the hypovitaminosis D in newly diagnosed PV patients. Vitamin D-VDR pathway gene expression showed downregulation of CYP27B1 and CYP24A1 mRNA in first-discovery patients compared to healthy controls, while VDR mRNA was highly expressed in newly diagnosed PV patients. Moreover, CYP27B1, CYP24A1 and VDR mRNA were significantly upregulated in chronic disease severity groups compared to mild disease groups. The genetic study showed low VDR gene expression in carriers of FokI > CC genotype, which was more frequent among PV patients, and FokI > C-TaqI > C-ApaI > A-polyA > A16 haplotype, suggesting that the VDR gene polymorphisms testing can provide useful information for PV treatment decision-making.In conclusion, our findings underline the impact of vitamin D-VDR pathway disruption in the PV pathophysiology in Tunisian patients.

Characterised intron retention profiles in muscle tissue of idiopathic inflammatory myopathy subtypes

ObjectivesIdiopathic inflammatory myopathies (IIMs) are a group of heterogeneous autoimmune diseases. Intron retention (IR) serves as an important post-transcriptional and translational regulatory mechanism. This study aims to identify changes in...

Rituximab Therapy for Immune-Mediated Neurological Diseases: Our Experience at a Tertiary Care Centre.

Rituximab (RTX) is a monoclonal anti-CD20 chimeric antibody that inhibits B cell activity. However, it is an appealing substitute for traditional immunomodulatory drugs as a swiftly acting, targeted therapy with mounting evidence of efficacy and tolerance in numerous neuroinflammatory conditions. We discuss the scientific evidence for the use of RTX in neurological illnesses, as well as the dose, safety, and other practical elements of prescription. This study aims to assess and correlate the effects of RTX on immune-mediated neurological disorders. The primary objective of this study is to determine the outcomes in patients treated with RTX for the following conditions: myasthenia gravis (MG), autoimmune encephalitis, multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein antibody disease (MOGAD), immune-mediated peripheral neuropathy, and inflammatory muscle disease. The secondary objective is to assess adverse drug reactions in patients treated with RTX. This is a prospective observational study conducted at a tertiary care centre. The data were analyzed for the period from May 2022 to May 2024. Approval was obtained from the institutional ethics committee before commencing the study, andwritten informed consent was obtained from all patients. A total of 56 patients were included in the study. The distribution of patients according to diseases is as follows: MG (17), MS (11), NMOSD (10), MOGAD (7), immune-mediated peripheral neuropathy (6), autoimmune encephalitis (3), and inflammatory muscle disease (2). However, one patient was lost to follow-up in the autoimmune encephalitis group. All patients experienced improvements in symptoms, and no relapse episodes have been reported except for one patient who had a relapse in the inflammatory muscle disease group. During the infusion process, some adverse drug reactions, such as chills and rigors, were observed, and two patients experienced major side effects, such as Pott's disease and cryptogenic organizing pneumonia. Nevertheless, overall, rituximab shows promise as an off-labelimmunosuppressive treatment for the aforementioned neurological immune-mediated diseases.

Expert consensus on the genetic counseling for Dystrophinopathies

Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.

Clinical Significance of Antibodies to DFS70 in Immunoinflammatory Rheumatic Diseases.

The relevance of the problem of immunoinflammatory rheumatic diseases(IIRD) for modern medicine is determined by their high prevalence in the population, the difficulty of early diagnosis, the rapid development of disability and poor life prognosis. Recent data on the significance of anti-DFS70 have opened up new possibilities for optimizing the step-by-step diagnosis of IIRD. The detection of these antibodies can help in the interpretation of a positive result for antinuclear antibodies (ANA) by indirect immunofluorescence assay on HEp-2 cells (IIFA-HEp-2) in the absence of autoantibodies specific for IIRD. Detection of anti-DFS70 in antinuclear factor (ANF) seropositive patients without clinical and/or serological markers characteristic of a certain disease from the IIRD group can be considered as a potential marker that excludes this group of diseases.

Diagnostic Utility of Immunofluorescence on Formalin-Fixed Paraffin-Embedded Skin Biopsy

Abstract Background: When immunofluorescence on the frozen section is insufficient or unavailable, salvage immunofluorescence techniques can be used on formalin-fixed, paraffin-embedded tissue. The goal of the current investigation was to evaluate the diagnostic value of paraffin immunofluorescence following proteinase K digestion on skin biopsy samples in comparison to fresh frozen immunofluorescence. Materials and Methods: It was standardized and compared to the immunofluorescence on fresh frozen tissue (IF-Frozen) for paraffin immunofluorescence by proteinase K digestion of formalin-fixed paraffin-embedded skin biopsies (IF-FFPE). The study included 50 native skin biopsy cases, and fluorescein isothiocyanate-labeled IgA, IgG, IgM, and C3 intensity levels were evaluated in each case. Results: A total of 50 cases of native skin biopsy were included in the study, and their intensities for IgA, IgG, IgM, and C3 antibodies were compared. The average staining intensities in each disease group for the antibodies had equal intensity or had a minor difference (1+)/significant difference (2+). Paraffin immunofluorescence, proteinase K digestion had the best correlation, that is, had either equal or minor difference (1+) with fresh frozen immunofluorescence. The difference of 2+ intensity of antibodies between IF-FFPE and IF-Frozen was noted mainly in C3 antibody on paraneoplastic pemphigus. IF-FFPE showed a sensitivity of 100%, 97.6%, 100%, and 81.6% for IgA, IgG, IgM, and C3, respectively, whereas the specificity was 100% for IgA, IgG, IgM, and C3. Limitations: Small sample size and and the employment of one method of antigen retrieval in IF-FFPE. Conclusion: Immunofluorescence techniques done on formalin-fixed paraffin-embedded tissue can serve as salvage techniques in cases where immunofluorescence on the frozen section may not be adequate or may not be available.

Interpretation of T-cell and NK-cell lymphoid proliferations and lymphomas in the 5th edition of the WHO classification of haematolymphoid tumours

The 5th edition of the World Health Organization (WHO) classification of haematolymphoid tumours used the hierarchical system to classify T-cell and NK-cell lymphoid proliferations and lymphomas (T/NK-LPD/LYM) based on research advances and clinicopathological characteristics of the diseases. In this edition of classification, tumour-like lesions were included, some tumors were added/deleted, the names or terms of certain diseases were refined, and the diagnostic criteria or subtypes of some diseases were revised. This group of diseases was reintegrated from non-clonal hyperplasia to highly aggressive lymphoma, which would further reflect the nature of T/NK-LPD/LYM and benefit to clinical application.

Longitudinal study on the change trend of serum alkaline phosphatase and its possible influencing factors in peritoneal dialysis patients

The aim of the study was to analyze the change trend of serum ALP over time and identify factors influencing its levels in peritoneal dialysis patients. Then to investigate the impact of serum ALP changes on calcium and phosphorus metabolism in single peritoneal dialysis center utilizing repeated measurement data. A retrospective cohort study was conducted with a total follow-up duration of 30 months. Serum ALP and other biomarkers, including calcium (Ca), phosphorus (P), 25(OH)D, intact parathyroid hormone (iPTH), albumin(ALB), and hemoglobin(Hb) were measured every 3 months. The generalized estimation equation (GEE) was utilized to analyze the change trend of serum ALP over time, and to assess whether there were differences in changes over time between different genders and different primary disease groups. Additionally, factors influencing serum ALP levels were analyzed, and the impact of serum ALP changes on calcium and phosphorus metabolism was also explored. A total of 34 patients were included in the study. Serum ALP and other indicators were measured repeatedly, with a maximum of 8 times and a minimum of 4 times. The median of serum ALP values at all measurement times for all selected patients was 89 U/L. The GEE analysis revealed that serum ALP gradually increased with time, and patients in diabetes group increased faster than those in non-diabetes group. A positive correlation was observed between serum ALP and dialysis duration, also between serum ALP and hemoglobin. However, variations in serum ALP did not significantly affect serum corrected calcium, phosphorus, or iPTH concentrations. The serum ALP levels of peritoneal dialysis patients increase gradually over time, and the concentrations are influenced by dialysis duration. The changes in serum ALP values do not have a significant impact on serum calcium, phosphorus, and iPTH levels.

ERS statement on transition of care in childhood interstitial lung diseases

Interstitial lung diseases (ILD) are a heterogeneous group of rare diffuse diseases affecting the lung parenchyma in children and adults. Childhood interstitial lung diseases (chILD) are often diagnosed at very young age, affect the developing lung, and can have different presentations and prognosis compared to adult forms of these diseases. Also, chILD in many cases may apparently remit, and have a better response to therapy and better prognosis than adult ILD. Many affected children will reach adulthood with minimal activity or clinical remission of the disease. They need continuing care and follow-up from childhood to adulthood if the disease persists and progresses over time but also if they are asymptomatic and in full remission. Therefore, for every chILD patient an active transition process from paediatric to adult care should be guaranteed. This ERS statement provides a review of the literature and current practice concerning transition of care in chILD. It draws on work in existing transition care programs in other chronic respiratory diseases, disease-overarching transition of care programs, evidence on the impact of these programs on clinical outcomes, current evidence regarding long-term remission of chILD as well as the lack of harmonisation between the current adult ILD and chILD classifications impacting on transition of care. While the transition system is well established in several chronic diseases, such as cystic fibrosis or diabetes mellitus, we could not find sufficient published evidence on transition systems in chILD. This statement summarises current knowledge but cannot yet provide evidence-based recommendations for clinical practice.