Unknown Prevalence Research Articles

Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene

Introduction: congenital hypotonia, a rare condition that encompasses various neuromuscular disorders, can have a genetic origin, such as infantile neuroaxonal dystrophy (inad), an ultra-rare neurodegenerative disorder of unknown prevalence. Objective: to utilize genomic techniques for the precision diagnosis of low-prevalence neuromuscular diseases. Materials and methods: case report of an infant, without a family history of genetic diseases, normal pregnancy, hypotonia at birth, neurodevelopmental regression, nystagmus, strabismus, and cerebellar atrophy. Due to the suspicion of an autosomal recessive vs de novo inherited disease, genetic sequencing studies using ngs (next-generation sequencing) + cnv (copy number variations) were requested for genes related to congenital hypotonia (1,621 genes). Results: two heterozygous variants were identified (compound heterozygote for the pla2g6 gene), the first variant classified as probably pathogenic, a duplication of 5 nucleobases at position 1,914 of the cdna, in exon 14 of the gene. The second variant, classified as pathogenic, involves a change from guanine to adenine at position 2,081 of the cdna, in exon 15 of the gene. Variants in this gene are associated with three autosomal recessive medical conditions: infantile neuroaxonal dystrophy 1, neurodegeneration with brain iron accumulation 2b, and parkinsons disease 14. Discussion and conclusion: congenital hypotonia, linked to disorders such as inad, is difficult to diagnose conventionally. Deleterious variants in the pla2g6 gene, located on chromosome 22, are associated with three autosomal recessive hereditary conditions, including inad, with manifestations before 3 years of age, neurological symptoms, mortality within the first decade, and multiple complications. Genomic technologies, including reverse phenotyping, are fundamental in understanding its genetic basis, phenotypic heterogeneity, guiding targeted treatment, prognosis, follow-up, genetic counseling, and heritability risk, bringing us closer to anticipatory, preventive, and precision medicine, especially in ultra-rare conditions.

Interhypothalamic adhesions: prevalence, structure, and location-based classification map in pediatric patients undergoing MRI.

Interhypothalamic adhesions (IHAs) have been reported only in the pediatric population, with unknown prevalence and histological composition. We aim to demonstrate their prevalence, assess their persistence through longitudinal imaging, classify IHAs by anatomical distribution, explore their structure, and report associated pathologies. A retrospective review was conducted on consecutive pediatric brain MRI studies obtained between January 2012, and December 2013. The presence of an IHA was only confirmed when observed on at least two planes. For each IHA, cross-sectional area was calculated, and signal intensities were measured at the center on sagittal T2WIs. Signal intensities were also measured in both cerebral white matter and gray matter for normalization and comparison. Patient demographics and clinical information were collected from electronic charts. Out of 1550 patients (0-17.9 years), 33 (19 males, 14 females) had an IHA, resulting in a 2.13% prevalence. Follow-up images were available for 19 IHA-positive patients, and IHAs were again seen in 92% of the follow-up scans (71/77). Normalized IHA signal highly correlated with normalized gray matter signal (r = 0.83, P < 0.001), but not with normalized white matter signal (r = -0.16, p = 0.494). Common co-occurring pathologies included hydrocephalus (n = 9), prematurity (n = 8), and corpus callosum abnormalities (n = 7). All type 3 IHAs (3/3) were accompanied by pituitary pathologies. IHAs have a prevalence of 2.13% in our cohort, and the majority persist in longitudinal studies. They showed gray matter signal intensity and Type 3 IHAs exclusively accompanied pituitary abnormalities.

Lymphocytic Interstitial Pneumonia with Varied Association: Case Series

Lymphocytic interstitial pneumonia (LIP) is an unusual variant of interstitial lung disease with unknown incidence and prevalence. It is often seen in patients with autoimmune diseases and in immune-compromised individuals, and is associated with specific infections; rarely, it is idiopathic. Idiopathic LIP has a male preponderance, while the secondary form is more common in females. It is characterized by dense infiltration of polyclonal lymphocytes, plasma cells, and histiocytes in the interstitial and alveolar spaces. Early diagnosis and treatment initiation are crucial for a favorable prognosis. Here, we present four cases of LIP with variable associations, emphasizing the importance of clinical examination, imaging, and, whenever needed, a transbronchial lung biopsy for accurate diagnosis.

Insights into cardiac amyloidosis screening in TAVI from a Greek/Cypriot Cohort: the GRECA-TAVI registry

Abstract Background Transthyretin amyloid cardiomyopathy (ATTR-CM) is a disease with a poor prognosis and an unknown prevalence in the general population. Specific patient subgroups are at higher risk, such as patients with severe aortic stenosis (AS). Purpose To investigate the prevalence of ATTR-CM in Greek and Cypriot patients with severe AS that undergo Transcatheter Aortic Valve Implantation (TAVI). Methods A total of eight (n=8) tertiary hospital centers from Greece and Cyprus formed part of the GRECA-TAVI registry to evaluate the prevalence of ATTR-CM in patients undergoing TAVI. The inclusion criteria were diagnosis of severe AS in the presence of left ventricular hypertrophy (i.e. ≥12mm). Patients were referred for ATTR-CM screening by Tc99m-DPD or Tc99m-PYP bone scintigraphy. A complete hematologic workup was performed in all patients to rule out plasma cell dyscrasias. Cases with equivocal bone scintigraphy findings were not included in analysis. Results A total number of n=303 AS patients were screened from January 2023 until February 2024. Screening for CA with Tc99m-DPD/PYP bone scintigraphy and hematological tests was complete for all the patients included in the study. A positive bone scan (i.e. Perugini scale 2 or 3) was found in n=31 or 10.2% of the patients. The mean age of patients was not significantly different between AS patients with and without ATTR-CM (82,25 ±1,8 vs. 81,21 ±0,44 respectively, p=0.478). A male predominance was found in the ATTR-CM subgroup, although this was not statistically significant compared to non-ATTR-CM patients (%male: 64.5% vs. 49.3%, respectively, p=0.13). ATTR-CM patients had a lower LVEF compared to non-ATTR-CM patients (47.5% ±2.13 vs. 55% ±0.75, p=0.046). Conclusions The prevalence of ATTR-CM in this cohort of patients with severe AS undergoing TAVI was ~10%. These findings call for the implementation of national screening strategies for ATTR-CM which still remains significantly underdiagnosed in many geographic parts of the globe.

Profile of Patients With Obstructive Sleep Apnea: An Initial Experience in a Tertiary Health Facility.

Introduction Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder with increasing prevalence worldwide. The disease is, however, underdiagnosed in many resource-limited countries, especially in sub-Saharan Africa with unknown prevalence. Study aim The aim of this study was to determine the demographic and clinical characteristics, as well as measured sleep study parameters of suspected OSA patients. Methods The study was a retrospective review of the clinical characteristics and home sleep study reports of patients seen at the respiratory and sleep clinic from January 2020 to June 2022. Descriptive statistics such as means, medians, and percentages were employed to summarize the data using tables and graphs. Spearman correlation coefficient and Fisher's exact test were used to determine associations between the variables. Findings The study participants were predominantly male, and 64.7% were ≥50 years of age. Approximately 76% of the cases had moderate-to-severe OSA based on the apnea-hypopnea index (AHI) scores with a mean BMI of 38.4kg/m2 and 43.1kg/m2, respectively (p=0.013), and a mean STOP-BANG score of 5.2 and 6.2, respectively (p <0.001). There was a positive correlation between AHI scores and BMI of the patients (r=0.252, p=0.003), as well as with their STOP-BANG scores (r=0.436, p< 0.001). Oxygen desaturation index (ODI) parameters of participants also positively correlated with the AHI scores (r=0.872, p<0.001). Conclusion The proportion of patients with moderate-to-severe OSA was high. Obesity was significantly associated with AHI scores, which also positively correlated with the STOP-BANG and ODI scores. These results suggest that the burden of OSA, which is closely linked with obesity, could be underestimated in Ghana and requires epidemiological studies in the very near future to clearly define and anticipate its impact on the health economy of Ghana.

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing. What is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD? We investigated the proportion of PCD among the participants of the ProspectiveGermanNon-CF-BronchiectasisRegistry (PROGNOSIS) study; applied multiple imputation to account for missing data in 64 (FEV1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively; and identified predictive variables from baseline data using multivariate logistic regression analysis. We consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95%CI, 3.3-11.9; P< .001), age< 53 years (aOR, 5.3; 95%CI, 2.7-10.4; P< .001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95%CI, 1.3-10.8; P= .016), duration of bronchiectasis > 15 years (aOR, 3.6; 95%CI, 1.9-6.9; P< .001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95%CI, 1.3-4.5; P= .007). Within our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis. ClinicalTrials.gov; No.: NCT02574143; URL: www. gov.

#191 An unusual cause of hypocalcemia in a young patient

Abstract Background and Aims A 33-year-old man visited the Nephrology Department outpatient clinic with abnormal laboratory findings: his serum calcium level was 5.9 mg/dL in a recent health examination. He denied any underlying disease and was on no medications. He complained of a tingling sensation in his hands and of eyelid twitching. On physical examination, he showed Chvostek's sign. His laboratory findings including serum calcium level are shown in Table 1. He did not have any morphological abnormalities, such as a round face, brachydactyly, or dental anomalies. Method Since he showed hypocalcemia, normal 25-hydroxyvitamin D, and elevated parathyroid hormone (PTH) levels, the presence of PTH resistance was presumed. Under strong suspicion of pseudohypoparathyroidism (PHP) in this patient, DNA sequence analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of GNAS and STX16, genetic regions that are often affected by mutations or imprinting changes in PHP, was performed. No pathogenic mutations in GNAS and STX16 were detected by sequencing. Results Results of MS-MLPA of the GNAS locus demonstrated abnormal methylation patterns in the patient after HhaI restriction enzyme treatment. The methylation ratio showed a gain of methylation in the NESP55 region and loss of methylation in the AS, XL, and A/B differentially methylated regions (DMRs) in the patient as compared to a healthy control (Fig. 1). The patient was diagnosed with PHP type 1B (PHP1B) due to the methylation abnormalities in multiple DMRs. His parents both showed normal serum calcium levels; thus, no further genetic testing was conducted. He is on outpatient follow-up with adequate calcium replacement and no specific symptoms. Conclusion PHP is a rare disorder of unknown prevalence. It is characterized by hypocalcemia, hyperphosphatemia, and increased PTH levels. PHP1B is a subtype of PHP characterized by isolated renal PTH resistance, usually without physical abnormalities such as Albright hereditary osteodystrophy or other endocrine abnormalities. PHP1B can be sporadic or familial. The genetic characteristics of most sporadic PHP1B remains unclear, but GNAS imprinting abnormalities and hypomethylation at the A/B DMRs have been reported. Symptoms of PHP1B usually begin in childhood due to low calcium levels and may include numbness, seizures, tetany, cataracts, and dental problems. However, as in our case, specific symptoms may not occur until adulthood. Therefore, when evaluating the cause of hypocalcemia, it is necessary to differentiate PHP1B, even in adults, and particularly in cases with hyperphosphatemia and high PTH levels.

Incidence of venous thromboembolism after cardiovascular surgery.

Among venous thromboembolism, pulmonary thromboembolism (PTE) is one of the most serious postoperative complications. Deep venous thrombosis (DVT) is the main cause. Considering the unknown prevalence of DVT and PTE in the postoperative period of cardiovascular surgery in Japan, we investigated the incidence in consecutive patients who underwent cardiovascular surgery. A total of 225 patients who underwent cardiovascular surgery at four hospitals consented to participate in the study. We assessed DVT using lower extremity venous ultrasound preoperatively and postoperatively. Seven patients with preexisting DVT were excluded. Postoperative antithrombotic therapy was administered at the discretion of the attending physician at each institution. The postoperative intermittent pneumatic compression therapy followed the standard prophylaxis protocol at each institution. Patients were grouped into DVT and non-DVT cohorts for comparison. Continuous variables were expressed as means ± standard deviations and compared by the t-test. The analysis of lower extremity venous ultrasound images indicated that DVT developed in 16 of the 218 study patients (DVT, 7.3%). No patient had PTE. Procedure-related data revealed significantly higher total blood transfusion (DVT group: 61.2 ± 49.9 IU vs. non-DVT group: 27.7 ± 30.2 IU: p = 0.018, effect size = 1.048) in the DVT group. The multivariate logistic regression predictor of DVT based on preoperative, intraoperative, and postoperative factors was blood transfusion (p = 0.005, 95% confidence interval 1.010-1.059, odds ratio 1.034). The incidence of postoperatively developed DVT was 7.3% in this study.

Longitudinal Sequencing and Variant Detection of SARS-CoV-2 across Southern California Wastewater

Wastewater-based epidemiology (WBE) is useful for detecting pathogen prevalence and may serve to effectively monitor diseases across broad scales. WBE has been used throughout the COVID-19 pandemic to track disease burden through quantifying SARS-CoV-2 RNA present in wastewater. Aside from case load estimation, WBE is being used to assay viral genomic diversity and emerging potential SARS-CoV-2 variants. Here, we present a study in which we sequenced RNA extracted from sewage influent obtained from eight wastewater treatment plants representing 16 million people in Southern California from April 2020 to August 2021. We sequenced SARS-CoV-2 with two methods: Illumina Respiratory Virus-Enriched metatranscriptomic sequencing (N = 269), and QIAseq SARS-CoV-2-tiled amplicon sequencing (N = 95). We classified SARS-CoV-2 reads into lineages and sublineages that approximated named variants and identified single nucleotide variants (SNVs), of which many are putatively novel SNVs and SNVs of unknown potential function and prevalence. Through our retrospective study, we also show that several SARS-CoV-2 sublineages were detected in wastewater before clinical detection, which may assist in the prediction of future variants of concern. Lastly, we show that sublineage diversity was similar across Southern California and that diversity changed over time, indicating that WBE is effective across megaregions. As the COVID-19 pandemic moves to new phases, and SARS-CoV-2 variants emerge, monitoring wastewater is important to understand local- and population-level dynamics of the virus. These results will aid in our ability to monitor the evolutionary potential of SARS-CoV-2 and help understand circulating SNVs to further combat COVID-19.

A Three-Year Investigation on Corpses Referred to Legal Medicine Organization from An Iranian General Hospital: A Cross-Sectional Study.

A Medical Certificate of Cause of Death (MCCD) is a legal and enforceable document issued by the attending physician. However, according to the instructions, in many cases such as sudden, unexplained, and extraordinary deaths, along with some uncommon causes, such as cases suspicious of murder, the deceased patient must be referred to the Iranian Legal Medicine Organization (ILMO). Moreover, the unnecessary referral of corpses to ILMO can increase the workload of the staff, finally confronting the family of the deceased with high emotional and financial costs. In this cross-sectional study, the medical records of all deceased patients referred from Hazrat Rasool Hospital to the ILMO (565 cases) in a three-year period from April 2016 to March 2019 were investigated and analyzed using SPSS22 software with chi-squared and T-test. Among all the patients who passed away during this time (4,239 patients), 565 were referred to ILMO, accounting for 13.3% of deaths. The most common causes of referral were car and motorcycle accidents, with a total prevalence of 27.1%, dead-on-arrival (DOA) prevalence of 21.3%, and death with an unknown cause prevalence of 15.3%. Significant correlation was also detected between causes of referral with gender, time of death, and age. For example, Car accidents and lawsuits against medical staff were more common in men and women, respectively. Car and motorcycle accidents, DOA, and unknown causes were the most prevalent causes of referral in this study. In general, few studies have been conducted regarding the causes of referral of the deceased to the Legal Medicine Organization. In this study, we collected relevant variables to investigate this issue thoroughly.

Clinical manifestation and diagnostic challenges of SAPHO Syndrome: a case report

Clinical manifestation and diagnostic challenges of SAPHO Syndrome: a case report

Pilot development of diagnostic tools for lower limb apophyseal injuries in children and adolescents.

Lower limb apophyseal injuries commonly occur in children and adolescents with unknown incidence and prevalence. These conditions are considered benign, but impact children and adolescents quality of life and can lead to sport withdrawal at a crucial time. The primary aim of this research was to develop self-administered tools for two of the most common apophyseal injuries. The secondary aim was to test the sensitivity and specificity of the tools. Study 1 used a three round online Delphi panel (n = 8), with expert consensus supported by robust literature. This panel developed a self-administered screening tool for calcaneal (Sever's disease) and tibial tuberosity (Osgood-Schlatter's disease) apophysitis. Study 2 tested the sensitivity and specificity of these developed tools with parents and children (n = 63) with concurrent clinical examination by a health professional. An initial sample size for Study 2 was set at 155 children however this was impacted by COVID-19 and recruitment was halted. Both tools had excellent diagnostic accuracy with an area under the curve of 83% (95% confidence interval = 0.70 to 0.95) for the posterior heel (calcaneal apophysitis) tool and 93% (95% confidence interval = 0.80 to 1.00) for the anterior of knee (tibial tuberosity apophysitis) tool using the pilot data from the 63 children. These tools may also enhance opportunities for clinicians and health service providers with pre-clinical screening to reduce wait list time and encourage low cost, self-administered management where indicated. These findings may enable large epidemiological studies to identify populations and calculate incidence and prevalence of these conditions using self report.

SÜLEYMAN DEMİREL ÜNİVERSİTESİ ARAŞTIRMA VE UYGULAMA HASTANESİ SAĞLIK ÇALIŞANLARININ BAĞIŞIKLANMA DURUMLARININ VE BAĞIŞIKLANMAYI ETKİLEYEN ETMENLERİN DEĞERLENDİRİLMESİ

Objective&#x0D; The aim of this study was to evaluate the immunization&#x0D; status of healthcare workers in Suleyman Demirel&#x0D; University Research and Training Hospital and factors&#x0D; affecting immunization.&#x0D; Material and Method&#x0D; This research, planned as a cross-sectional and&#x0D; analytical type, was carried out between February&#x0D; 2020 and July 2020. The population for the research&#x0D; comprised healthcare workers at Suleyman Demirel&#x0D; University Research and Training Hospital (1827&#x0D; people). The sample size was calculated as 397 for&#x0D; an unknown prevalence of 50%, 95% confidence&#x0D; level, absolute precision of 5% and a design effect of&#x0D; 1.25. Dependent variables were immunization status&#x0D; for influenza, hepatitis B, MMR, tetanus, varicella, and&#x0D; hepatitis A vaccines. Independent variables included&#x0D; features that might be related to sociodemographic&#x0D; features and immunization status. The statistical&#x0D; significance level was accepted as p

Benign recurrent intrahepatic cholestasis – case series and literature review

Benign recurrent intrahepatic cholestasis (BRIC) is a rare form of intrahepatic cholestasis seen in patients with genetic predispositions. It is a rare disease of unknown prevalence and is transmitted as an autosomal recessive pattern of inheritance. The available literature for BRIC is limited. It is hard to formulate the true prevalence of the disorder. Often precipitated by a trigger like viral infections and drugs, this condition results in a self-limiting episode of cholestasis. We present a case series of three patients with the clinical picture of BRIC. All three cases were fully evaluated for the cause of cholestasis and thereafter treated with ursodeoxycholic acid and rifampicin, which showed complete recovery.

Congenital High Airway Obstructive Syndrome (CHAOS) Survival of a Newborn with Laryngeal Atresia.

Congenital high airway obstructive syndrome (CHAOS) is a rare congenital anomaly, frequently caused by laryngeal or tracheal atresia, tracheal stenosis, and obstructing laryngeal cysts. This is a congenital malformation, often fatal, with an unknown prevalence. Laryngeal atresia is the most frequent cause. We report a case of an intrauterine diagnosis of CHAOS and ascites in a 17-week fetus delivered at 38 weeks of gestation without other associated malformations. A fetoscopic procedure was performed at 22 weeks of gestation. An attempt was made to perforate the affected area to ensure pulmonary fluid circulation and the ascites' resolution. After birth, a tracheostomy was performed. The patient was mechanically ventilated until 11 months of age, when she was discharged with no cerebral or other complications of immediate postnatal anoxia or episodes of respiratory arrest. A laryngotracheoplasty was performed at 2 years old, but decannulation was not possible due to certain complications. At 5 years old, a new surgical intervention was performed, which allowed decannulation 6 months later.

Evaluation of Siltuximab and Tocilizumab Analytical Interference on Interleukin 6 Measurements

Abstract Background Interleukin 6 (IL-6) plays important roles in both innate and adaptive immunity, while dysregulated persistent production of IL-6 is involved in pathological development of various diseases associated with inflammation. Targeting the IL-6 pathway has led to many innovative treatment approaches. Siltuximab and Tocilizumab are monoclonal antibodies targeting IL-6 and IL-6 receptors respectively and have been FDA-approved for treatment of Castleman disease (Siltuximab), a rare lymphoproliferative disorder characterized by hyperproduction of IL-6 with an unknown prevalence, autoimmune diseases such as rheumatoid arthritis (Tocilizumab), and both shown potential as treatment for cytokine release syndrome in hospitalized COVID-19 patients. However, the presence of siltuximab can interfere with IL-6 assays, leading to the use of C-reactive protein (CRP) as a surrogate marker to monitor its efficacy. Aim To evaluate potential Siltuximab and Tocilizumab antibody interference on IL-6 measurements in three different IL-6 protein immunoassays. Method: Serum or EDTA plasma sample pools with different IL-6 concentrations ranging from low (2.3 – 11.1 pg/mL, around the reference interval cut-off for each assay) to high (18.5 – 1142 pg/mL), above reference interval cut-off for each assay) were utilized. Various concentrations of Siltuximab or Tocilizumab were spiked into the sample pools (at 10% of total volume) to achieve final concentrations up to 600 µg/mL and up to 300 µg/mL, respectively. Sample spiked with 10% saline were used as no-drug control. Three assays were used to measure IL-6 concentration: Beckman Access IL-6 assay on UniCel DxI 800 (Beckman Coulter), V-PLEX Plus human IL-6 assay on QuickPlex SQ120 (Meso Scale Diagnostics), and a Luminex cytokine panel assay developed in house (R&amp;D systems) with upper reference interval limits of 6.4,1.8 and 5 pg/mL respectively. Results Siltuximab interfered with the measurement of IL-6 for all three assays. A significant interference (&amp;gt; 20% reduction) was observed at even a very low siltuximab concentrations in all three assays (0.05 µg/mL). In the presence of 5 µg/mL or greater Siltuximab, a maximum reduction of 93%, 83%, and 40% was observed for Beckman Access, R&amp;D Luminex assay, and V-PLEX Plus Mesoscale assay, respectively. Tocilizumab did not interfere with the measurement of IL-6 in the three assays when serum was spiked with up to 300 µg/mL of the drug. Conclusion Siltuximab falsely reduce the measured IL-6 concentration on all three immunoassays tested in this study to differing degrees, whereas Tocilizumab does not. Consider the therapeutic range of Siltuximab (84 to 332 µg/mL) for treatment of Castleman disease, and a half-life of 20.6 days, measurement of IL-6 may not be useful in Siltuximab treated patients for an extended time-period.

Leading Causes of Chronic Kidney Disease Among Dialysis Patients in Al-Baha Region, Saudi Arabia.

Introduction Chronic kidney disease (CKD) and its progression to end-stage renal disease (ESRD) represent a growing health concern globally, with hypertension and diabetes commonly identified as primary etiological factors. This study evaluates the demographic and health profiles of individuals undergoing dialysis treatment in the Al-Baha region of Saudi Arabia, aiming to identify the predominant causes of ESRD and the associated socioeconomic and healthcare-related factors. Methodology This cross-sectional study analyzed data from patients receiving dialysis in Al-Baha. We assessed variables including etiology of ESRD, demographic data, presence of comorbid conditions, initial symptoms, and pre-dialysis health care engagement. Statistical analysis focused on the prevalence and correlations between the different variables and ESRD. The study also examined patients' educational background and employment status to ascertain ESRD's socioeconomic impact. Results The study found hypertension and diabetes as the leading causes of ESRD. Unknown etiologies accounted for 10.1% of cases, highlighting an area for further research. Notably, coronavirus disease 2019 (COVID-19) and cardiogenic shock emerged as potential new contributors, each representing 1.7% of cases. Most patients resided in urban areas, with the largest age group being 46 to 55 years. Men had a higher prevalence of ESRD than women. Low educational attainment was significant among patients, and unemployment due to ESRD was prevalent, pointing towards the need for vocational support. Clinical findings revealed late referrals to nephrologists, with a substantial proportion of diagnoses occurring in emergency settings. Family history suggested a higher-than-expected genetic component of CKD in the region. Conclusion The study confirms hypertension and diabetes as principal contributors to ESRD in Al-Baha while also pointing to the emergence of COVID-19 as a potential risk factor. Socioeconomic factors, including educational and employment status, are critical to patient management and outcomes. The high percentage of unknown etiologies and familial CKD prevalence warrants additional research. Improving early detection, enhancing patient education, and fostering timely nephrology consultations could mitigate the progression to ESRD and enhance patient quality of life.

126 Prevalence of Right Sided Heart Failure in Angus Influenced and Beef on Dairy Fattening Feedlot Cattle

Abstract Bovine Congestive Heart Failure (BCHF) exists in feedlot cattle at low to moderate elevations, but previous studies focused solely on beef cattle. The economic advantage of breeding beef sires to dairy dams results in an increase in the number of beef on dairy (DXB) crossed cattle in the feedlot system, though not much is known on the comparative prevalence of BCHF in DXB compared with beef cattle breeds. The inclusion of a new breeding program for dairy producers leads to another potential source of variability (i.e., dairy influenced genetics) for heart disease research in the feedlot sector. Heart failure in the feedlot is typically known as Feedlot Heart Disease (FHD) and has been reported to result in unfavorable carcass and growth performance damaging quality and efficiency throughout the lifetime of cattle. The unknown prevalence of heart failure in DXB cattle may be a problem for producers since little is known about which breeds are at greater risk. The severity of FHD for both beef and DXB cattle was determined by individually grading hearts at harvest using a 1 to 5 grading system corresponding to the stage of heart remodeling with a score of 1 (normal heart) and greater scores indicating increased remodeling. The objective of this study was to examine the prevalence of heart remodeling in both an Angus influenced group of beef cattle and a sample of DXB cattle. Heart scores were collected on an Angus influenced group raised in the panhandle of Texas (1,103m) and totaled 1,634 animals (Grade 1: 347; Grade 2: 848; Grade 3: 371; Grade 4: 68; Grade 5: 0). Heart scores were collected on a DXB group raised in western Kansas (846 m) and totaled 2,328 animals (Grade 1: 913; Grade 2: 1,162; Grade 3: 225; Grade 4: 27; Grade 5: 1). Proportions of moderate to severe heart remodeling were 0.27 and 0.11 for Angus influenced and DXB, respectively. In conclusion, preliminary research on heart remodeling in both samples indicates a greater proportion of cattle experiencing heart remodeling in beef breeds versus the DXB cattle, although further investigation is needed to make conclusions about the consistency of heart remodeling and breed effects.

Patients with Non-Transfusion-Dependent Thalassemia May Evolve to Transfusion-Dependent Thalassemia in Adulthood

Introduction: Non-transfusion-dependent thalassemia (NTDT) describes a prevalent and clinically heterogeneous group of patients in the United States. Adults with significant forms of NTDT display progressive age-related complications due to chronic anemia and ineffective erythropoiesis. While the importance of early diagnosis and close monitoring in pediatric patients with NTDT is well-established, the characteristics and complications of adults with NTDT in the United States is poorly described. Many adult patients with NTDT are managed by community providers who often have limited experience with this condition.This single-center observational study describes the clinical characteristics of patients with NTDT during their initial presentation to an adult thalassemia treatment center and identifies intervenable complications related to NTDT. Methods: We evaluated patients referred to the Penn Comprehensive Adult Thalassemia Program between 2013 and 2023 who carried a diagnosis of NTDT (defined as alpha or beta thalassemia and requiring fewer than 8 units of red cells in the 12 months preceding their initial visit). Data was collected via manual chart review. Clinical complications were defined as symptoms at presentation, history of splenectomy, hepatosplenomegaly, paraspinal masses, pulmonary hypertension, cardiac arrhythmia, endocrine complications (hypothyroidism, hypogonadism, diabetes, decreased bone mineral density), thrombotic events, and iron overload requiring chelation. Laboratory markers of disease severity included hemoglobin (Hgb), markers of hemolysis, nucleated red blood cells, serum ferritin and MRI quantitation of liver and cardiac iron. Results: Of the 94 patients with thalassemia referred to the Penn Comprehensive Adult Thalassemia Program, 34 carried a diagnosis of NTDT. Of these, 13 had α- thalassemia (deletional and non-deletional HbH), 19 had β-thalassemia variants (homozygous or double heterozygous β-globin gene mutations), and 2 had hemoglobin E/β-thalassemia. The median age at referral was 37.5 years (range 20-74); 71% were female. In general, patients with β-thalassemia had a larger number of significant complications than those with α-thalassemia. Overall, 11 patients (32%, all with β-thalassemia) had a history of splenectomy, 21 (62%) had evidence of extramedullary hematopoiesis with hepatosplenomegaly, and 7 (21%) had paraspinal masses. Pulmonary hypertension was seen in 5 of 21 patients with β-thalassemia and hemoglobin E/β-thalassemia (24%) while 4 patients overall (11%) had a history of thrombosis. The most common endocrinopathy was decreased bone mineral density (32%). Mean Hgb was 9.1 g/dL, however, 53% had a Hgb &amp;lt; 9 g/dL. Seven patients had an increase in nucleated red blood cells (range 161-1522 %) as a marker of ineffective erythropoiesis. Serum ferritin exceeded international NTDT guidelines for tissue evaluation (&amp;gt; 800 ng/mL) in 32% of patients; the mean ferritin for all patients was 897 ng/mL (range 45-7601 ng/mL). A liver MRI was obtained in 56% of patients with mean iron content of 25 mg/g dry weight (range 1.5 - 41.2 mg/g dry weight). No patients had evidence of cardiac iron overload. Of the 34 patients referred for NTDT, 14 (41%) met criteria to initiate a chronic transfusion regimen to maintain a pre-transfusion Hgb &amp;gt; 9.5 g/dL per established guidelines. Criteria included fatigue (all patients), extramedullary hematopoiesis (32%), Hgb &amp;lt; 7 g/dL (8%), and pulmonary hypertension (15%). Several patients had more than one indication for chronic transfusion. Conclusions: This is the first report of patients with NTDT in the United States that highlights clinically significant complications that accumulate in adults. Our results demonstrate a previously unknown high prevalence of conditions that warrant close monitoring, screening and intervention. Clinically, 41% of adult NTDT patients referred to our comprehensive adult thalassemia program met criteria to initiate a chronic transfusion program, a number that is significantly higher than previously published rates outside of the USA. These findings indicate a critical need for thalassemia education of adult providers that emphasizes the importance of monitoring for early complications of NTDT, as well as criteria for initiating a chronic transfusion program to mitigate complications and provide meaningful impacts in clinical outcomes.

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review.

Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa.