Clinical Profile Of Patients Research Articles

Clinical, Genetic, Biochemical, Hormonal, and Radiological Profile in Patients with Disorders of Sex Development Presenting at a Tertiary Care Center in Central India

Abstract Introduction: Disorders of sexual differentiation or differences in sex development (DSD) is a congenital anomaly with abnormal differentiation between internal gonads and external genitalia. We present the clinical, genetic, biochemical, hormonal, and radiological profile of DSD patients who presented at a tertiary care institute in Chhattisgarh during 2 years. Methodology: All patients with DSD and age <18 years who presented in the Outpatient Department of Pediatrics and Pediatric Surgery between January 2022 and December 2023 (2 years) in All India Institute of Medical Sciences, Raipur, Chhattisgarh, were included in this study. Our aim was to study the clinical, genetic, biochemical, hormonal, and radiological profile of patients with DSD presenting at our institute to outline the management plan in these patients. Results: During the study period, there were seven patients with DSD; with age ranging from 1 year to 15 years. Four patients presented in adolescent age. There were two patients with XXDSD – diagnosed to have classic congenital adrenal hyperplasia (21-hydroxylase deficiency). There was one patient with XYDSD – androgen insensitivity. Four patients had ovotesticular DSD – two had pure gonadal dysgenesis and two had mixed gonadal dysgenesis. Four patients needed gender reassignment. Conclusion: Patients with DSD require a systematic management at a tertiary care center. Assigning the sex of rearing should be done only after proper workup of patients and arriving at a diagnosis. Proper counseling of parents and individualized management as per the Indian Association of Pediatric Surgeons guidelines is mandatory.

Clinical Profile of Adults with Inherited Bone Marrow Failure Syndromes: Results of an Ambispective Clinical Single-Center Study

BACKGROUND. Inherited bone marrow failure syndromes (IBMFS) is a heterogenous group of rare genetically determined diseases with variable hematologic and nonhematologic manifestations. The implementation of highly specific methods of genetic diagnosis advanced the understanding of IBMFS and allowed its application also beyond pediatrics. That presupposes an awareness of clinical features and reference points for recognizing IBMFS in adults. AIM. To describe the clinical profile of adult IBMFS patients. MATERIALS & METHODS. This ambispective single-center study enrolled 35 patients (10 women and 25 men) with IBMFS. Patients were aged 18–51 years (median 26 years). The following IBMFS were identified: congenital dyskeratosis (n = 10; 28 %), Diamond-Blackfan anemia (n = 9; 26 %), Fanconi anemia (n = 7; 20 %), GATA2 deficiency (n = 3; 8 %), Shwachman-Diamond syndrome (n = 1; 3 %), GATA2 deficiency (n = 1; 3 %), amegakaryocytic thrombocytopenia (n = 1; 3 %), bone marrow failure syndrome type 3 (n = 1; 3 %), severe congenital neutropenia (n = 1; 3 %), bone marrow failure with SAMD9 mutation (n = 1; 3 %). These diseases were analyzed in terms of hematologic and nonhematologic manifestations as well as main diagnosis stages and factors that contribute to recognizing IBMFS. RESULTS. Monolinear cytopenia, bilinear cytopenia, and pancytopenia were identified at hematologic onset in 18 (52 %), 6 (17 %), and 11 (31 %) patients, respectively. The median age of patients by hematologic onset was 15 years (range 0–43 years), in 14 (40 %) patients cytopenia was newly diagnosed at the age of > 18 years. In 23 (63 %) patients hypocellular bone marrow was reported, 7 (20 %) and 5 (14 %) patients had pure red cell aplasia and multilineage myelodysplasia, respectively. Chromosomal aberrations were identified in 2 patients. Paroxysmal nocturnal hemoglobinuria clone was detected in none of 27 examined patients. In 12 (34 %) patients, the criteria for non-severe aplastic anemia were met. Temporary partial or complete spontaneous hematologic recovery was observed in 6 (17 %) patients. Abnormalities with partial or complete organ dysfunctions were identified in 14 patients, whereas all patients showed minor congenital defects. All 7 Fanconi anemia patients and 9 out of 10 congenital dyskeratosis patients demonstrated organ damage specific to these diseases. Family history predominantly showing malignant neoplasms in relatives was reported in 15 (43 %) patients. Initial hematological examination yielded suspect of IBMFS in 12 (34 %) patients with the median time to diagnosis of 6 months. In 23 (66 %) patients, hematologic defects with cytopenia were erroneously accounted for by various acquired diseases, which led to a delayed correct diagnosis (median 7 years). The key factors in suspecting IBMFS were organ abnormalities and positive family history. The IBMFS diagnosis was verified by the next-generation sequencing (NGS) in 29 (83 %) patients and by other specific methods in 4 (11 %) patients. In 2 patients, the diagnosis was established on the basis of complete clinical criteria alone. CONCLUSION. IBMFS is a matter of current concern and a difficult-to-recognize clinical challenge in adult hematology patients. Differential diagnosis of acquired and congenital bone marrow failure needs to be performed irrespective of patient’s age. A detailed physical examination of patients, family history, and critical analysis of clinical profile and disease course allow for early suspicion of IBMFS. Suspected IBMFS is an indication for referral of patients to specialized centers and performing genetic diagnostics including NGS.

Clinical and serological characteristics of patients allergic to LTP.

Allergy to lipid transfer proteins (LPT) is common in Mediterranean Europe, and it causes severe reactions in patients and affects multiple foods, impairing the quality of life. This study aimed to describe the clinical and sensitization profile of patients with LTP syndrome and to determine a clinical pattern of severity. Molecular diagnosis is shown in a broad population through microarrays. This study was performed at the LTP Allergy Consultation of the Reina Sofia Hospital in Murcia, Spain. We analyzed the patients' characteristics, reactions, cofactors, food implicated, quality of life, skin prick test to food and aeroallergens, and serologic parameters, such as total immunoglobulin E, peach LTP (Pru p 3 IgE) and immunoglobulin G4, and microarray Immuno Solid-phase Allergen Chip (ISAC). We related the severity of the reactions with other variables. We presented a series of 236 patients diagnosed with LTP allergy, 54.66% suffering from anaphylaxis, 36.02% from urticaria angioedema, and 9.32% from oral allergy syndrome. The most frequently implicated food was peach, producing symptoms in 70% of patients, followed by walnut in 55%, peanut in 45%, hazelnut in 44%, and apple in 38% patients. Regarding the food that provoked anaphylaxis, walnut was the most frequent instigator, along with peach, peanut, hazelnut, almond, sunflower seed, and apple. According to the severity of LPT reaction, we did not discover significant differences in gender, age, food group involved, and serologic parameters. We found differences in the presence of cofactors, with 48.84% of cofactors in patients with anaphylaxis, compared to 27.1% in patients without anaphylaxis and in family allergy background (P < 0.0001). In our series of patients, 54% presented anaphylaxis, and the foods that most frequently produced symptoms were peaches, apples, and nuts. Cofactors and family allergy backgrounds were associated with the severity of LPT reaction.

Pemphigus vulgaris and mucous membrane pemphigoid: A systematic review of clinical manifestations, diagnosis, and treatment

Pemphigus vulgaris (PV) and mucous membrane pemphigoid (MMP) are mucocutaneous autoimmune diseases characterized by blistering lesions of mucous membranes and skin, with very similar clinical manifestations. This study aimed to systematically review the literature on the clinical and demographic profile, diagnostic methods, and treatment of patients with pemphigus vulgaris (PV) and mucous membrane pemphigoid (MMP). Studies describing cases of PV and MMP diagnosed by direct immunofluorescence that exhibited intraoral manifestations were included. Thirty-two articles were included, with 18 studies on PV and 15 on MMP, corresponding to 50 and 123 cases diagnosed as PV and MMP, respectively. Most patients with PV (64 %) and MMP (81.3 %) were women in the fifth and sixth decade of life, respectively. The mouth was the primary site of involvement both in PV (71.4 %) and in MMP (91 %). The cheek mucosa and gingiva were the most frequently affected intraoral sites in PV (30 %) and MMP (64.2 %), respectively. Direct immunofluorescence was positive for IgG in all cases of the two conditions. The treatment of choice was systemic corticosteroid therapy for patients with PV (50 %) and topical treatment for patients with MMP (53.7 %). Differences in intraoral site predilection, extraoral involvement, and the results of diagnostic tests allow us to trace the clinical, demographic, and diagnostic profile of PV and MMP that contributes to differential diagnosis and therapeutic management.

Clinical Profile and Course of Patients with Acute Respiratory Distress Syndrome due to COVID-19 in a Middle-Income Region in Mexico.

COVID-19 leads to severe clinical complications that culminate in respiratory failure and acute respiratory distress syndrome (ARDS). Despite reports of some comorbidities that contribute to the development of COVID-19-mediated ARDS, there is great variation in mortality rates among critical COVID-19 patients in the world. To date, no studies have described the incidence and comorbidities associated with ARDS due to COVID-19 in the northeastern region of Mexico. To describe patients diagnosed with ARDS due to COVID-19 in the northeastern region of Mexico, as well as its variations in comparison with other regions of the country. We conducted a prospective and observational study in a tertiary care center in Northeastern Mexico. All patients diagnosed with SARS-CoV-2 infection and requiring management in the intensive care unit were included. We developed a database that was updated daily with the patients' demographic information, pre-existing diseases, disease severity, and clinical variables. The incidence of ARDS secondary to COVID-19 in HRAEV was high in comparison with other reports. Diabetes mellitus was the risk factor most associated with COVID-19-mediated ARDS. Based on our findings and those previously reported in the literature, there are differences that we discuss between northeastern and central Mexico, and analyze other areas evaluated around the world.

The clinical profile of new-onset optic neuritis in arabs, a tertiary center experience in Kuwait

BackgroundOptic neuritis is an inflammatory disorder of the optic nerve and is often the initial manifestation of systemic demyelinating diseases such as multiple sclerosis (MS), neuromyelitis optic spectrum disorder (NMOSD), and myelin-oligodendrocyte glycoprotein (MOG) antibody-mediated disease. There are ethnic variations in the etiology of optic neuritis across the world. While multiple sclerosis is common in the West, NMOSD and MOG are more common causes in Asian patients. There is a paucity of reports on the clinical profile of optic neuritis in the Middle East. ObjectivesTo study the demographic and clinical features of patients with new onset optic neuritis in a main tertiary care center. MethodsA retrospective study of cases with new-onset optic neuritis at a tertiary care center between 2012 and 2022. The clinical and demographic characteristics were obtained from medical records and were summarized using descriptive statistics. Univariate analysis and multivariate analysis to assess the short-term visual outcome. ResultsSeventy-one patients with new-onset optic neuritis (70 unilateral and one bilateral) were included in the study. The mean age was 33.3 years, they were predominantly females (73 %), and most of the cases were MS (53 %) followed by idiopathic optic neuritis (42.3 %). Final visual acuity of at least 20/40 was seen in at least 91.5 %. ConclusionWhile the clinical profile of patients in this study closely resembles the Optic Neuritis Treatment Trial with a high incidence of MS and a good visual outcome in most patients and a good response to intravenous steroids, there is a significant proportion of idiopathic optic neuritis cases that may need to be better characterized with longer follow up and repeated serum biomarker testing.

Evaluation of different modalities in prevention of seroma formation post-modified radical mastectomy – An observational study from a rural tertiary care center

Background: Seroma, a recognized complication of modified radical mastectomy (MRM) delays the administration of adjuvant therapy and also effects adverse events. Aims and Objectives: This study was conducted to study the sociodemographic and clinical profile of patients developing seroma post MRM and compare the effectiveness of different modalities of seroma prevention since there is a dearth of literature on this matter in our sub-Himalayan region. Materials and Methods: This was an observational study conducted from February 2021 to August 2022 on 60 women with carcinoma breast who underwent MRM. They were studied for sociodemographic profile, cancer characteristics, and seroma prevention techniques and followed up during the study period. Preventive modalities used were quilting, octreotide therapy, suction drains with early drain removal, passive low suction drains, sharp dissection technique, and sclerotherapy. The results were analyzed using the Statistical Package for the Social Sciences version 22. Results: The mean age was 49.7±9.4 years, 18.3% had hypertension and 10.0% diabetes mellitus, and 58.3% presented with breast lump. Overall incidence of seroma was 23.3%; the highest was observed in sclerotherapy (50%), and the lowest was in quilting (7.1%) (P=0.235). The presence of hypertension (P=0.026) and the non-administration of neoadjuvant chemotherapy (P=0.010) was significantly associated with developing seroma. Sharp dissection was associated with wound infection (33.3%), sclerotherapy with flap necrosis (50%), and quilting with shoulder stiffness (21.4%). Conclusion: The lowest incidence of seroma was in quilting and the highest in sclerotherapy. Adverse events such as wound infection, shoulder stiffness, and flap necrosis were the lowest among patients discharged with passive drains and highest in sclerotherapy.

Assessment of clinical profile of patients with epilepsy

Assessment of clinical profile of patients with epilepsy

EVALUATION OF DEMOGRAPHIC PROFILE AND VISUAL OUTCOMES OF CATARACT PATIENTS OPERATED IN A CHARITABLE CAMP HOSPITAL IN CENTRAL INDIA

Aim: To Study the Demographic Profile and visual Outcomes of Cataract Patients Operated in a Charitable Camp in Central India Introduction Cataract is a leading cause of preventable blindness globally. Developing countries account for three quarters of cataract blindness worldwide. Despite the large number of corrective surgeries being performed globally cataract blindness is believed to be increasing by1–2 million/year. The present study was conducted in the patients residing in a peripheral rural area of Indore division (central India) to study the demographic and clinical profile of patients with cataract. This study supplements to understand the outcomes of such patients who were operated in camp at a tertiary care center. Study Design: It is a prospective descriptive study conducted on camp patients at a charitable tertiary eye care hospital (Central India) from December 2019 to February 2020.Wirtten informed consent was taken from patients for participation in this study. Setting: Department of Ophthalmology Choithram Netralaya, Indore from December 2019 to February 2020. Material and Methods: During the study period 139 surgeries were performed by the surgeon. All patients above 40 years of age having senile cataract with stable systemic condition were included. Patients with age less than 40 years of age, uncontrolled systemic condition, Patients with other ocular comorbidities, undergone previously any ocular surgery in the selected eye or not giving written informed consent were excluded.All the patients were screened for cataracts in the camps in the periphery by the trained optometrist and referred to the base hospital. Detailed pre-operative ocular examination of all the patients was performed and medical checkup with routine pre-operative profile was also done. Patients medically fit for cataract surgery underwent small incision cataract surgery with Posterior capsular IOL implantation (PCIOL) under local anesthesia. All the cataract surgeries were performed by a single surgeon using the same technique to avoid any bias. Results: It was observed that the mean age of presentation was 61.5 years with female preponderance of nearly (56.8%) . out of 139 patients 63 patients (45.3,%) had systemic comorbidities, which included ,33 patients (23.74%) with hypertension and 28 patients(20.14%) with Diabetes mellitus. Majority of patients i.e.101 (72.66%) patients had onset of ocular symptoms between 3 to 6 months . In this study bilateral immature nuclear cataract was commonly encountered cataract in 88.48% of patients and only 8 patients had mature cataract and 7 patients presented with hyper mature cataract respectively .On post-operative day one, 19 patients and 8 patients had blood clot in anterior hamber,5 patients had cortical matter in Anterior chamber On follow up at one week, majority of patients i.e 110 (79.13%) had visual acuity between 6/9-6/12.Patients after re-surgery had visual acuity of minimum up to 6/24 with possibility of getting better on further visits. Conclusion: In our study, increasing age and female gender were commonly associated with cataract. Most of the patients had bilateral cataract and low vision at presentation. Hypertension and type 2 diabetes mellitus were commonly associated systemic disorders with cataract.This study highlights that high quality cataract surgery with a low intra-operative complication rate and good visual outcome can be attained even in camp patients operated in the base hospitals with standard protocols.

Significance of neutrophil to lymphocyte ratio evaluation as a prognostic indicator in dengue patients

Dengue is the most important arthropod borne re-emerging tropical viral infection in human beings resulting in more illness and deaths. Platelet count and hematocrit estimations are the most common parameters to assess the severity of dengue. However, due to the heterogeneous nature of the clinical presentation of dengue patients, it’s difficult to identify sensitive clinical or laboratory predictor to assess dengue severity. Neutrophil - Lymphocyte ratio (NLR) has been proved as a prognostic marker in various diseases and may emerge as a potential predictor for the dengue severity and its prognosis. This study aims to evaluate the NLR in dengue patients and to assess its role in relation with patients clinical and serological profile as well as platelet counts. A retrospective observational study was conducted in which 100 cases (≥12 years of age) of dengue which were diagnosed at our laboratory were studied and their clinical and laboratory data were analysed. Test of significance was done by Chi Square test with consideration of P value ≤ 0.05 as statistically significant. Male predominance was observed with dengue infection. NS1Ag (+) was the most common dengue serological profile. NLR ≤2 significantly correlates with thrombocytopenia. A significant relation was found between NLR and severity of the dengue patients. In conclusion, NLR ≤2 correlates with low platelet count which corresponds to more severity of the dengue disease. NLR &gt;2 indicates more platelet count and less severity of the disease. Hence NLR evaluation can be used as a prognostic indicator in dengue patients.

Clinical Profile and Outcomes of Heart Failure Patients: A Study Conducted in A Tertiary Care Hospital in Central India

Background: Heart failure (HF) is a major health problem with varying epidemiology and outcomes across different regions. This study aimed to investigate the clinical profile, risk factors, and outcomes of heart failure patients admitted to a tertiary care hospital in central India.

The demographic and clinical profile of patients with alopecia areata in Syria: A study letter

The demographic and clinical profile of patients with alopecia areata in Syria: A study letter

Cytomegalovirus infection risk with alemtuzumab therapy in hematological malignancies: a retrospective cohort study in the non-transplant setting

Alemtuzumab is a potent lymphocyte-depleting immunotherapy used in solid organ transplan­tation (SOT), that is increasingly being applied in diverse lymphoproliferative disorders (LPDs). However, a significant toxicity limiting expanded usage is cytomegalovirus (CMV) infection, for which standardized preventive strategies exist in SOT but not in LPDs due to a poor understanding of infection risk in this population, with early LPD studies largely limited to stem cell transplantation. Using one of the most diverse arrays of LPDs studied to date, our retrospective cohort study of non-transplant patients receiving alemtuzumab over a ten-year period at a large regional cancer center examines the incidence and clinical profile of infected patients. Among 24 patients, we identified a composite CMV infection rate of 42% with a symptomatic rate of 21%. We also noted significant variations in preventive strategies, which alongside a high infection rate presents an opportunity to improve outcomes through further work in standardization.

Profile of patients referred for lung transplant and their transplant-free survival.

Lung transplant (LTx) is a potential treatment option for all patients with chronic, end-stage respiratory disease, who are refractory to optimal medical therapy or where no medical therapy exists. In India, LTx is still in its evolving stages and published literature is sparse. The current study was carried out to study the selection criteria for lung transplant and to evaluate the clinical and socio-economic profile of patients referred for the same at a tertiary health care facility. The study was a descriptive, prospective, observational study. All adults referred for lung transplant were evaluated for clinical and laboratory profiles. All enrolled patients were assessed for presence of referral criteria, listing criteria, contraindications, and willingness for lung transplant. These patients were followed up for 2 years for transplant-free survival, and the Cox proportional hazards model was used to determine independent predictors of all-cause mortality. A total of 103 were included in study. The most common diagnosis was interstitial lung disease (57.2%), followed by bronchiectasis (17.5%) and COPD (13.6%). Most patients were referred for LTx at an advanced stage as 90% met listing criteria. Fifty-four (52.4%) patients had an absolute or relative contraindication to transplant; however, the majority of those contraindications were modifiable. Patients with a lower socio-economic status were less likely to be willing for LTx. The median survival was 757 days. A 6-minute walk distance (6MWD) lesser than 250 m was found to be an independent predictor of mortality. Making patients aware about lung transplant early in their treatment may give them sufficient time to come to terms with their disease and understand the risk and benefits associated. Efforts should be focused on screening and early treatment of reversible contraindications for the eligible patients. Patients with 6MWD < 250 m are at increased risk of mortality.

Exploring the clinical profile of patients studied by dynamic myocardial perfusion computed tomography

Exploring the clinical profile of patients studied by dynamic myocardial perfusion computed tomography

Peripheral Th17/Treg imbalance in Chinese patients with untreated antisynthetase syndrome associated interstitial lung disease

Interstitial lung disease (ILD) is a common and fatal manifestation of antisynthetase syndrome (ASS). The aim of this study was to provide new insight into investigate peripheral blood lymphocytes, CD4+ T cells, cytokine levels and their relation to the clinical profile of untreated patients with ASS-ILD. The retrospective study population included thirty patients diagnosed with ASS-ILD and 30 healthy controls (HCs). Baseline clinical and laboratory data were collected for all subjects, including peripheral blood lymphocyte, CD4+ T cell subsets measured by flow cytometry, and serum cytokine levels measured by multiple microsphere flow immunofluorescence. Their correlations with clinical and laboratory findings were analyzed by Pearson’s or Spearman’s correlation analysis. In addition, the Benjamini-Hochberg method was used for multiple correction to adjust the p-values. Patients with ASS-ILD had lower CD8+ T cells, higher proportion of Th17 cells and Th17/Treg ratio than HCs. Serum cytokine levels (IL-1β, IL-6, IL-12, IL-17, IL-8, IL-2, IL-4, IL-10, TNF-α and IFN-γ) were higher in patients with ASS-ILD than HCs. Moreover, Th17/Treg ratio was negatively correlated with diffusing capacity of carbon monoxide (DLCO)%. Our study demonstrated abnormalities of immune disturbances in patients with ASS-ILD, characterized by decreased CD8+ T cells and an increased Th17/Treg ratio, due to an increase in the Th17 cells. These abnormalities may be the immunological mechanism underlying the development of ILD in ASS.

Prevalence and clinical phenotypes of adult patients with attention deficit hyperactivity disorder and comorbid behavioral addictions.

Although the correlation between substance use disorder and attention deficit hyperactivity disorder (ADHD) has been largely studied, less is known about the correlation between behavioral addictions and ADHD. Thus, the aim of the present study was to investigate the prevalence of behavioral addictions in a large sample of adult patients with a primary diagnosis of ADHD and to compare the clinical profile of ADHD patients with and without behavioral addictions comorbidity. 248 consecutive adults newly diagnosed as ADHD patients were assessed through a series of validated scales for gambling disorder, internet, sex, shopping and food addictions. ADHD patients with at least one comorbid behavioral addiction were compared to non-comorbid patients on ADHD symptoms, impulsivity, mood and anxiety symptoms and functional impairment. 58.9% of patients had at least one behavioral addiction comorbidity. Of the whole sample, 31.9% of the patients had a comorbidity with one behavioral addiction while the 27% showed a comorbidity with two or more behavioral addictions. Internet addiction was the most common comorbidity (33.9%) followed by food addiction (28.6%), shopping addiction (19%), sex addiction (12.9%) and gambling disorder (3.6%). ADHD patients with comorbid behavioral addictions showed higher ADHD current and childhood symptoms, higher cognitive and motor impulsivity, higher mood and anxiety symptoms and higher functional impairment. Behavioral addictions are highly frequent in adult ADHD patients. Comorbid patients seem to have a more complex phenotype characterized by more severe ADHD, mood and anxiety symptoms, higher impulsivity levels and greater functional impairment.

Clinical profile and outcome of patients admitted in pediatric intensive care unit of tertiary care teaching hospital of rural North India: an observational study

Clinical profile and outcome of patients admitted in pediatric intensive care unit of tertiary care teaching hospital of rural North India: an observational study

A PrOsPective Cohort Study on Interstitial Lung Disease-Associated Pulmonary Hypertension with a ParticulaR Focus on the Subset with Pulmonary Arterial Hypertension Features (POPLAR Study).

The pathogenesis and clinical profiles of patients with pulmonary hypertension (PH) associated with interstitial lung disease (ILD-PH) are poorly understood. Whether and to what extent pulmonary arterial hypertension (PAH)-specific therapy improves hemodynamic and outcome in ILD-PH are also unknown. This study aims to clarify the characteristics, clinical course and response to PAH-specific therapy of ILD and/or PH by enrolling three unique subsets: PAH, ILD-PH, and ILD. The proposed study is a retrospective and prospective, multi-centre, observational cohort study of patients treated at any of three university hospitals in the Hokkaido region of Japan who have any one of the following: PAH; ILD-PH with or without PAH features; or ILD without PH. We aim to enrol 250 patients in total. For the retrospective observation period, data obtained after 1 January 2010, will be analysed, and the prospective observation period will be 1year. We will compare the clinical data of patients with ILD-PH with those of patients with PAH and those of patients with ILD without PH in the real-world clinical setting. In addition, within the cohort of patients with ILD-PH, we will explore the subset with "ILD-PH with PAH features" and compare the response to PAH-specific therapy with that of PAH. The primary outcome will be the change in pulmonary vascular resistance from first treatment to follow-up in patients with PAH and ILD-PH with PAH features (excluding ILD-PH without PAH feature and ILD-no-PH for the primary outcome). The exploratory outcomes will include analyses of PH-associated biomarkers, right ventricular function and patient-reported outcomes. This is a protocol article and the results will be presented after data collection is completed. The POPLAR study will provide data that help better understand the pathophysiology of ILD-PH and improve the quality of life and outcome of patients with PH and/or ILD. Japan Registry of Clinical Trials: jRCT1010230018.

Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma

BackgroundCollagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor interactions and focal adhesion pathways. However, studies focusing on the diagnostic value of the COL4 family in stomach adenocarcinoma (STAD) are currently lacking.MethodsThe TCGA database was employed to retrieve the clinical features and RNA sequencing expression profiles of patients with STAD. We conducted an investigation to examine the expression disparities between STAD and adjacent normal tissues. Kaplan-Meier survival analysis was utilized to assess their prognostic significance, while Spearman correlation analysis was employed to determine their association with immune checkpoint genes and immunomodulatory molecules. Furthermore, GO and KEGG analyses were performed on the COL4s-related genes, revealing potential biological pathways through gene set enrichment analysis (GSEA). Subsequently, we explored the extent of immune infiltration of the COL4 family in STAD using the TIMER database. Lastly, the expression levels of the COL4 family in STAD were further validated through quantitative PCR (qPCR) and western blot techniques.ResultsThe expression levels of COL4A1/2 were significantly upregulated, while COL4A5/6 were conspicuously downregulated in STAD. The survival analysis revealed that the upregulated COL4s indicated poorer overall survival, first progression and post-progression survival outcomes. Additionally, our findings demonstrated a positive correlation between the expressions of COL4A1/2/3/4 and the infiltration of immune cells, including CD8 + T cells, dendritic cells, macrophages, neutrophils and CD4 + T cells. Further correlation analysis uncovered a favorable association between the expression of COL4A1/2/3/4 and various crucial immunomodulatory molecules, immunological checkpoint molecules, and chemokines. Quantitative PCR analysis confirmed that the expression patterns of COL4A1/3/4/6 genes aligned with the finding from the TCGA database. However, gastric cancer cells exhibited downregulation of COL4A2. Consistently, the protein level of COL4A1 was elevated, whereas the protein level of COL4A2 was reduced in the gastric cancer cell lines.ConclusionCOL4s could potentially serve as biomarkers for diagnosing and predicting the prognosis of STAD.