Common Abnormality Research Articles

Pattern of Arrhythmia among Hypertensive Patients in South-South, Nigeria: A 24-H Ambulatory ECG (Holter ECG) Study

Background: Regular 12-lead electrocardiogram (ECG) often fail to detect cardiac conduction abnormalities. Among hypertensive patients, conduction irregularities such as atrial fibrillation and ventricular tachycardia are recognized occurrences and these can be intermittent or asymptomatic. This study aims to evaluate the conduction abnormalities identified among hypertensives by Holter ECG in a private medical facility in South-South, Nigeria. Methods: This is a retrospective study of five hundred and thirteen patients consisting of 255 males and 258 females Holter ECG who presented at a private medical facility from January 2015- December 2016. Holter ECG data was acquired using Schiller type (MT-101) Holter ECG Machine. Results: Out of the 370 hypertensive patients reviewed, with a mean age of 55.18 ±.14.78, 205(55.41%) had tachycardia, 180(48.65%) had bradycardia, 184(49.73%) had ventricular ectopics while 169(45.68%) had supraventricular ectopics. The most common clinical indication was palpitation 150 (40.54%). The most prevalent age group was 41-60 years; 230 (44.83%) as compared to other age groups in the study. Tachycardia was the most common type of arrhythmia among the subjects. There was a higher incidence of arrhythmias in the female subjects than in the male. Conclusion: Tachycardia and ventricular ectopics were the most common conduction abnormalities observed. Beta blockers and anti-arrhythmics would be helpful for optimization of cardiovascular care. Holter ECG is beneficial in describing and characterizing arrhythmias in hypertensive patients in this population therefore, further studies on larger populations and diverse disease conditions are advocated.

Impaired Cholesterol Uptake Capacity in Patients with Hypertriglyceridemia and Diabetes Mellitus.

Although low high-density lipoprotein cholesterol (HDL-C) levels are a common metabolic abnormality associated with insulin resistance, their role in cardiovascular risk stratification remains controversial. Recently, we developed a simple, high-throughput, cell-free assay system to evaluate the "cholesterol uptake capacity (CUC)" as a novel concept for HDL functionality. In this study, we assessed the CUC in patients with hypertriglyceridemia and diabetes mellitus. The CUC was measured using cryopreserved serum samples from 285 patients who underwent coronary angiography or percutaneous coronary intervention between December 2014 and May 2019 at Kobe University Hospital. The CUC was significantly lower in diabetic patients (n = 125) than in nondiabetic patients (93.0 vs 100.7 arbitrary units (A.U.), P = 0.002). Patients with serum triglyceride (TG) levels >150 mg/dL (n = 94) also had a significantly lower CUC (91.8 vs 100.0 A.U., P = 0.004). Furthermore, the CUC showed a significant inverse correlation with TG, hemoglobin A1c (Hb A1c), homeostasis model assessment of insulin resistance (HOMA-IR), and body mass index (BMI). Finally, the HDL-C/Apolipoprotein A1 (ApoA1) ratio, calculated as a surrogate index of HDL particle size, was significantly positively correlated with the CUC (r2 = 0.49, P < 0.001), but inversely correlated with TG levels (r2 = -0.30, P < 0.001). The CUC decreased in patients with hypertriglyceridemia and diabetes mellitus, and HDL particle size was a factor defining the CUC and inversely correlated with TG levels, suggesting that impaired CUC in insulin-resistant states was partially due to the shift in HDL towards smaller particles. These findings provide a better understanding of the mechanisms underlying impaired HDL functionality.

The Contralateral Ear in Unilateral CSOM, Endoscopic, Audiologic and Radiologic Evaluation

&amp;lt;i&amp;gt;Background&amp;lt;/i&amp;gt;: The aim of this study was to assess the contralateral ears in patients with unilateral CSOM with and without cholesteatoma, clinically (using otoendoscpy), auiologically and radiologically, then analyzing and comparing results between the 2 types of CSOM in a trial to examine the continuum theory for the development of the disease process in CSOM. Patients and methods: A prospective, observational study including 85 patients with unilateral COM (with or without cholesteatoma), the study was conducted at the Otorhinolaryngology Department, Damietta Faculty of Medicine, Al-Azhar University, Egypt between August 2020 and December 2021. &amp;lt;i&amp;gt;Results&amp;lt;/i&amp;gt;: In the present study (30.59%) of cases were having a unilateral squamous disease and (69.41 %) were mucosal CSOM, (70.6%) of patients having a diseased contralateral ear, of which (76.9%) having squamous disease and (67.8%) having mucosal CSOM. Pars tensa retraction was the most common abnormality (60%) seen in cases with squamous OM while thin TM was the most common abnormality (50%) of cases with mucosal CSOM. Pars tensa retraction was more severe in CLE of patients with squamous disease, (41.7%) were grade 4, while in mucosal type (50%) were grade 1. HRCT of mastoid reveled abnormalities in (24.7%) of all CLEs, more prevalent (62%) in the CLEs of cases with squamous disease than cases with mucosal COM. Audiologic examination of the CLE revealed (47%) having conductive hearing loss CHL of average 32.1 dB {36.5 dB average hearing loss in (70%) of cases with squamous type and 27.7 dB average hearing loss in (30%) of cases with mucosal CSOM}. Tympanometric evaluation of the CLEs revealed (50.6%) having abnormal curve {(73%) of cases with squamous type where type C curve was found in (84.2%) and type B curve in (15.8%)}, and in (40.7%) of cases with mucosal CSOM. where type C curve was found in (83.33%) and type B curve in (16.7%). &amp;lt;i&amp;gt;Conclusions&amp;lt;/i&amp;gt;: The present study has confirmed the presence of high incidence of abnormalities in the CLEs of unilateral squamous and mucosal COM which is more in squamous type, it emphasizes the importance of considering both ears as a pair. Disease in one ear especially in squamous type needs a close follow up of other ear, as in most cases there a hidden pathology which needs attention for complete cure. Otoendoscopy can be helpful in diagnosing and documenting masked pathologies.

Clinical utility of 7-probe FISH panel in multiple myeloma in a resource-constrained setting: A retrospective and prospective observational study

ABSTRACT Background: A 7-probe fluorescence in situ hybridization (FISH) panel identifying abnormalities such as immunoglobulin heavy chain (IGH) rearrangement, deletion 17p (TP53 – tumor protein 53), hyperdiploidy, and amplification of 1q, t(11;14), t(14;16), and t(4;14) aids in diagnosis and treatment planning for patients with multiple myeloma, particularly for high-risk patients and short-survival rates. Objectives: The primary objective of the study was to stratify patients with multiple myeloma based on the risk of developing the disease. The secondary objective was to assess the frequency of triple- and double-hit myeloma. Materials and Methods: This retrospective and prospective observational study was conducted in the Department of Cytogenetics, Amrita Institute of Medical Science, Kochi, Kerala, India from January 2020 to September 2022. Bone marrow samples were analyzed using the 7-probe FISH panel and stratification for myeloma and risk-adapted therapy (mSMART) classification for risk stratification. Results: We included 123 samples in the study. Results showed hyperdiploidy as the most common abnormality among newly diagnosed patients (110), with 54.5% (n = 60/110) classified as high-risk and 45.5% (n = 50/110) as standard-risk. Amplification of 1q was the most common abnormality in high-risk, while hyperdiploidy prevailed in standard-risk. Out of the 110 patients, 20.9% (n = 23) patients exhibited double-hit myeloma, and only two out of 110 (1.8%) had triple-hit myeloma. Among relapsed cases (13, 11.8%), all were high-risk, with amplification of 1p1q being the most common abnormality. Out of the 13 relapsed cases, five (38.4%) were double-hit myeloma, and one (7.7%) was triple-hit myeloma. In the remaining 7 (53.8%) cases, either one of the standard risk or high-risk abnormalities or both were observed. Conclusion: The 7-probe FISH panel was found to be a better and more comprehensive tool for risk stratification, molecular classification, and further management of multiple myeloma patients, and it led to improved patient care. Karyotyping, in contrast, did not yield any additional information and thus can be avoided.

Neonatal Head Ultrasound: Normal Findings and Common Abnormalities

Ultrasound is frequently used for the evaluation of the brain parenchyma and brain pathologies in neonates, due to its low cost, accessibility, and the absence of ionizing radiation, making it a great tool for a quick and feasible diagnosis in both term and preterm neonates. Ultrasound has a special role in the detection of germinal matrix hemorrhage, its complications, and sequelae. This article proposes a simple approach for the evaluation of the main anatomic structures of the neonate’s brain, through different approaches (anterior, posterior, and mastoid) based on diagrams and image correlation, as well as a review of the principal anatomic variants that should be considered and main pathologies. We also include the pitfalls and the most common radiologic appearance for a quick and appropriate identification to provide a correct diagnosis in the clinical setting.Learning Objective: To identify and interpret the main findings in neonatal head ultrasound, including anatomic variants and the main pathologies in both full-term and preterm neonates

Evaluation of Developmental Dental Anomalies in an Adult Dentate Iraqi Sub-Population of Sulaimani City by Using Panoramic Radiographs

Objective: The present study attempts to evaluate the prevalence of developmental dental anomalies in patients aged 18 years and over by using panoramic radiographs among the Kurdish subpopulation in Sulaimani city.&#x0D; Methods: Seven hundred and ninety-four OPGs between 2010 and 2022 were evaluated retrospectively in this study. Using panoramicradiography to evaluate the frequency of dental anomalies in shape, structure, number, and size.&#x0D; Results: The prevalence of dental anomalies diagnosed by panoramic radiographs was 26.6% among the sample. Anomalies of shapewere the most common abnormalities, followed by number, size, and structure. The most common anomaly seen in this study wasdilaceration (18.52%), followed by hypodontia and microdontia (both 16.67%), taurodontism, and macrodontia (16.05.%). Lessfrequent sub-types were amelogenesis imperfecta, peg-shaped lateral incisors and ghost teeth, accounting for 0.62%.&#x0D; Conclusions: Tooth shape anomalies were the most prevalent forms of developmental dental defects among the Kurdish subpopulation in Sulaimani city. Dilaceration, hypodontia, microdontia and taurodontism were the most prevalent categories ofabnormalities. The study confirmed that racial variables play a role in the incidence of dental anomalies. In addition, digital panoramicradiography is a beneficial method for the detection of dental abnormalities. Importantly, patient management and the treatment design are dependent on an early diagnosis.

ALL induction outcome: Real-world data from a pediatric oncology center in an LMIC setup with rural predominance.

Acute lymphoblastic leukemia (ALL) has survival rates of greater than 90% in developed nations. However, various sociodemographic factors adversely affect outcome rates in low- and middle-income countries (LMICs). To study induction outcome of ALL and various factors affecting it. This was a prospective cohort study which enrolled 86 children up to the age of 18 years with newly diagnosed ALL registered in newly established pediatric hematology and oncology division over the duration of 3 years. Sociodemographic and clinical data was collected. Outcome was assessed using morphological remission, minimal residual disease (MRD) and mortality rate. Of the 170 children with malignancies registered, 86 were ALL. Mean age was 7.09 ± 4.07 years and the M: F ratio of 1.32:1. Sixteen (38.09%) of them had severe acute malnutrition and another 16 (38.09%) had moderate acute malnutrition. Thirty (68.18%) children over 5 years were undernourished. Seventy-four (86.05%) were B-ALL and 12 (13.95%) T-ALL. In total, 28.77% had WBC counts greater than 50 × 10 9 /L. t (12;21) was the most common cytogenetic abnormality. Majority (60.46%) of the patients belonged to lower socioeconomic status. Seventy-one (93.42%) patients completed induction of which 100% attained morphological remission and 64 (90.14%) were MRD negative. There were five mortalities, three (60%) due to sepsis and 2 (40%) due to hemophagocytic lymphohistiocytosis. Fifty (65.78%) children had morbidities during induction, febrile neutropenia being the commonest. Successful induction outcome rates at par with high-income countries can be achieved even in resource-limited settings of LMIC with support from government and NGOs. Decentralized cancer care centers can effectively pave the way in reducing cancer mortality in children of lower socioeconomic status residing in rural areas.

184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry

INTRODUCTION: Fetal ventriculomegaly, the most common antenatally-diagnosed brain abnormality, is the defining feature of congenital hydrocephalus (CH). Fetal ventriculomegaly is also an overlooked associated finding in neuropsychiatric disorders, including autism spectrum disorder (ASD), which is diagnosed at a 10-fold higher rate in CH patients than in the general population. METHODS: We subjected 2,978 parent-trio probands with primary ventriculomegaly, including shunted, sporadic CH, to whole exome sequencing (WES). Using mouse molecular genetics, we generated a novel CH mutant mouse model via prenatal, genetic deletion of a WES-identified CH gene. MRI, measurement of CSF secretion, and cortex-wide, mesoscopic Ca2+ imaging were performed in mice. RESULTS: We identify phosphatase and tensin homolog (PTEN) to be the most frequently mutated gene in primary human ventriculomegaly. Integrative analysis of the human fetal brain revealed PTEN was most highly expressed in NKX2.1+ neuroprogenitor cells (NPCs) and their post-natal interneuron descendants. Pten mutant mice with Nkx2.1-specific Pten deletion exhibited neonatal-onset obstructive hydrocephalus, resulting from aqueductal stenosis due to mTor-activated hyperproliferation of NPCs, and CSF hypersecretion due to inflammation-driven choroid plexus hyperplasia. Hydrocephalic Pten mutants also exhibit autism-like hypersynchronization of the somatosensory cortices due to impaired activity of interneurons. Strikingly, genetic or pharmacologic mTORC1 inhibition (everolimus) corrects ventriculomegaly and rescues cortical pathology of Pten mutants. CONCLUSIONS: Our data demonstrate that PTEN, a commonly mutated ASD gene, is also the most frequently mutated gene in primary ventriculomegaly. To attenuate the pathologically entangled enlargement of the ventricular system and intrinsic neuronal deficits within the surrounding cortical mantle, the use of rapamycin analogs has high translational potential as an adjunct therapy to neurosurgical CSF diversion in ventriculomegalic patients harboring PTEN mutations. Ventriculomegaly may also be a useful radiographic biomarker for early referral for exome sequencing and formal neurodevelopmental assessments.

ЛИМФОМА ХОДЖКИНА И СИНДРОМ КЛАЙНФЕЛЬТЕРА: ОПИСАНИЕ КЛИНИЧЕСКОГО СЛУЧАЯ

Klinefelter syndrome is the most common chromosomal abnormality among others and is manifested mainly by hypogonadism, gynecomastia, and infertility. Against the background of KS, oncological diseases can develop, more often nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) due to genetic reparations, as well as osteoporosis as a result of androgen deficiency. This article describes a clinical case of a patient with Klinefelter syndrome and the onset of Hodgkin’s lymphoma (HL) in order to assess the risk of osteopenia/osteoporosis in this patient. A patient with previously diagnosed KS went to the doctor complaining of weakness, fatigue, weight loss, local enlargement of the inguinal lymph nodes. The patient was diagnosed with NLPHL and standard pathogenetic therapy was performed. Taking into account the presence of risk factors for osteoporosis (the presence of Klinefelter syndrome, HL, chemotherapy), the patient underwent two-energy densitometry in the lumbar spine, neck and proximal femur in order to assess the condition of bone tissue. As a result, a decrease in bone mineral density was found in all measurement areas. This clinical case describes a rather rare combination of three significantly different nosologies. Interestingly, two of them, namely HL and Klinefelter syndrome, contribute to the development of the third through various mechanisms. The presence of a decrease in bone density in this patient necessitates prevention. Despite the rare occurrence of such combined pathologies, the issue of timely diagnosis and prevention of complications from the musculoskeletal system in this category of patients remains relevant today

Digenic Alport Syndrome in Children: A Systematic Review of Case Reports and Case Series

Background: Alport syndrome comprises inherited heterogeneous disorders involving kidneys with varying combinations of ocular pathologies and hearing loss. Digenic Alport syndrome is a pathologic variant of Alport syndrome in which there is a mutation in two out of three mutations in type IV collagen (COL4A) genes, either COL4A5 with COL4A3/COL4A4, or pathogenic variants in COL4A3 with COL4A4. There are scarce data regarding the genotype–phenotype associations in children with digenic Alport syndrome. Objective: The present systematic review focuses on clinical presentations, genetic abnormalities, pharmacological management, and associated extrarenal manifestations in digenic Alport syndrome. Methods: A comprehensive search was done in major databases, such as PubMed and Google Scholar, using defined search terms encompassing case reports or case series on digenic Alport syndrome. The identified reports underwent screening by two different authors for inclusion and exclusion criteria. Results: Thirty-three cases were included, showing that the mean age at diagnosis was 6 years. Microhematuria was the most common kidney manifestation (85%), followed by nephrotic/nephritic range proteinuria (72%), while extrarenal features were a rare finding. The main diagnostic modality was genetic testing with specific findings on electron microscopy, such as thinning of the basement membrane (76.4%). Focal segmental glomerulosclerosis was the most common finding on light microscopy (50%). A missense mutation was the most common genetic mutation present in 65.7% of cases. The patients were primarily managed with medical management initially with no data regarding follow-up. Conclusion: The digenic phenotype of Alport syndrome presents with a mean age earlier than the other variants, with hematuria and proteinuria being the most common presentations, with rare extrarenal involvements. Furthermore, the most common genetic abnormality associated with the digenic variant of Alport syndrome is a missense mutation.

IJCM_318A: Risk Factors for Anaemia among Type 2 Diabetes Mellitus Patients in Mangalore- A Case Control Study.

Background: Anaemia, a common haematological abnormality, currently stands at a prevalence rate of 24.8% worldwide and 39.86% in India, affecting 1.62 billion individuals overall. Studies have shown that patients with Diabetes are twice as likely to be prone to anaemia. Objective: To study the risk factors for anaemia among patients with type 2 Diabetes Mellitus. Methodology: This is a record-based case-control study of 50 cases (diabetic with anaemia) and 100 controls (diabetic without anaemia) in Government Wenlock Hospital, Mangalore. Patients with haemoglobin concentration below the normal level (as defined by WHO as &lt;13 g/dl for men and &lt;12 g/dl for women) were considered anaemic. Data was entered and analyzed using the statistical software SPSS Version 17.0. Univariate analyses and a Chi-Square test were conducted to identify risk factors. Results: The median age of cases as well as controls was 60 years. The duration of diabetes was 8 years in cases and 7 years in controls. Among 50 cases, there were 39 (78%) males and 11(22%) females and among 100 controls, 68(68%) males and 32(32%) females. On univariate analysis, it was found that the low serum urea, creatinine, albumin, total protein and calcium levels were significantly associated with the presence of anaemia (P &lt;0.05). Conclusion: The above parameters implicate impairment in renal function and hence we can conclude that impaired renal function is a risk factor for developing anaemia in type 2 Diabetes Mellitus patients.

Clinical evaluation of ophthalmic findings in active, amateur, adult, competitive male boxers in India.

Background: In the popular fighting sport of boxing, opponents strike each other above the belt line in the face, chest, and belly. The physical parts most exposed are therefore the nose and eyes. In amateur boxing, fights go only three rounds - three minutes for men and one minute for women - with a one-minute break in between. They wear gloves, but the head protection used in the men's game has been removed by AIBA due to the high likelihood of concussion when using head protection. Because chronic ocular changes may take longer than the expected short-term effects, this study included at least 3 years of competitive sports participation. Study design and setting: Institutional-based cross-sectional study. Materials and methods: To evaluate ophthalmic outcomes, 200 eyes of 100 active amateur, adult, and competitive male boxers were studied. Results: Of the 100 boxers, 51 had ophthalmic changes in at least one eye, and 49 had normal eyes. The average age of boxers was 24.98 years. The average duration of boxing training was 7.04 years. Healed eyelid scars, subconjunctival hemorrhages, conjunctival papillae, traumatic mydriasis, posterior synechiae, angulation abnormalities, traumatic cataracts, lens subluxation, increased intraocular pressure, and peripapillary atrophy were observed on the ocular side. None of these could be attributed to boxing. Conclusion: Boxing-related eye injuries are common in India and the most common vision-threatening eye abnormalities include traumatic cataracts, lens subluxation, and angle abnormalities. Surprisingly, no macular lesions were found on physical examination and OCT. Additional studies with a larger number of boxers will be needed to evaluate and prevent clinical symptoms. All boxers should have a complete eye exam regularly. Abbreviations: AIBA = Association Internationale de Boxe Amateur, OCT = Optical Coherence Tomography.

Pre-Excited Atrial Fibrillation in Wolff-Parkinson-White (WPW) Syndrome: A Case Report and a Review of the Literature.

Wolff-Parkinson-White (WPW) syndrome is defined by specific electrocardiogram (ECG) changes resulting in ventricular pre-excitation (the so-called WPW pattern), related to the presence of an accessory pathway (AP), combined with recurrent tachyarrhythmias. WPW syndrome is characterized by different supraventricular tachyarrhythmias (SVT), including atrioventricular re-entry tachycardia (AVRT) and atrial fibrillation (AF) with rapid ventricular response, with AVRT being the most common arrhythmia associated with WPW, and AF occurring in up to 50% of patients with WPW. Several mechanisms might be responsible for AF development in the WPW syndrome, and a proper electrocardiographic interpretation is of pivotal importance since misdiagnosing pre-excited AF could lead to the administration of incorrect treatment, potentially inducing ventricular fibrillation (VF). Great awareness of pre-excited AF's common ECG characteristics as well as associated causes and its treatment is needed to increase diagnostic performance and improve patients' outcomes. In the present review, starting from a paradigmatic case, we discuss the characteristics of pre-excited AF in the emergency department and its management, focusing on the most common ECG abnormalities, pharmacological and invasive treatment of this rhythm disorder.

Pulmonary function assessments and clinical correlates in children with sickle cell disease in Cape Town, South Africa

Objectives: Among children with sickle cell disease (SCD) in Africa, there are varied reports on pulmonary function assessments. Restrictive pulmonary function is common in children with SCD in Africa; however, reports from Africa are few. We aimed to describe pulmonary function and its clinical correlates in children with SCD in Cape Town, South Africa. Materials and Methods: A prospective cross-sectional study was carried out over seven months from October 2018 to April 2019 in children 6–16 years with SCD. Children with hemoglobin (Hb) genotypes, homozygous for the BS globin mutation, and sickle-beta0-thalassemia Hb were included in the study. Children were excluded if they had acute complications. Medical record review clinical, laboratory, and pulmonary function assessments were done. Data were entered into Excel and exported to Stata Version 16.0 statistical software for analysis. Results: A total of 25 participants were recruited, mean (standard deviation) age of 10 ± (3.0) years. Thirteen (53%) children were under ten years and 15 (60%) were male. The median/interquartile range age at diagnosis was 1.7 [0.8–3.0] years. SCD-related complications were common. A review of the medical records showed a third of the patients (32%) had at least one previous episode of acute chest syndrome, 20 (80%) had a history of vaso-occlusive crisis, and 15 (76%) had required at least one blood transfusion. Spirometry was performed on 19 (76%) of the participants 9 (47%) had abnormal lung function. The most common spirometry abnormality was a restrictive pattern (forced vital capacity (FVC) &lt; lower limit of normal (LLN)). No participant had a positive bronchodilator response. Older age was associated with a decrease in forced expiratory volume in the first second (FEV1) Z-score (−0.16, 95% confidence interval [CI] −0.31, −0.01; P = 0.04). Children on hydroxyurea similarly had reduced FEV1 Z-score (−1.5, 95%CI −2.88, −0.12; P = 0.04) and reduced FVC Z-score (−2.21, 95%CI −3.64, −0.79; P &lt; 0.001). Conclusion: Lung function abnormalities were common among children with SCD, with restrictive abnormality predominating. Asthma and obstructive airway abnormalities were uncommon in children with SCD in South Africa.

Proposal for Diagnostic Criteria of Y-Shaped Dysmorphic Uterus Based on 3-Dimensional Transvaginal Ultrasound Measurements

Study ObjectiveTo define objective and readily applied diagnostic criteria for Y-shaped uteri using 3-dimensional transvaginal ultrasound (3D-TVUS) volume recordings. DesignA retrospective case-control diagnostic measurements study. SettingA tertiary university hospital's reproductive health and research center. PatientsTwo hundred thirteen patients who presented with infertility between January 2020 and December 2022. InterventionsTwo blinded physicians re-evaluated the 3D-TVUS images of all patients for the presence of a uterine abnormality. The images of patients with a Y-shaped uterus were re-evaluated, and descriptive measurements were done. Measurements and Main ResultsThe most common uterine abnormality in this cohort was the Y-shaped uterus with a prevalence of 12.2%, followed by the arcuate, T-shaped, and septate uteri, respectively. Reviewers identified 26 and 28 Y-shaped uteri, respectively, and came to a consensus on 25 images. Diagnostic criteria for the Y-shaped uterus based on 3D-TVUS findings have been specified as: lateral indentation depths between 4 and 7 mm, fundal indentation depth between 5 and 9 mm, lateral indentation angles between 121° and 149°, fundal indentation angle between 121° and 145°, and Y-angles 25° to 46°. ConclusionSome subtypes of dysmorphic uteri, such as the Y-shaped uterus, whose clinical significance is unknown and may be variants of the normal, may actually be more common than thought. Determining objective diagnostic criteria with 3D-TVUS will allow standard research on these anomalies and their clinical significance.

The Effect of Platelet-Rich Fibrin and Platelet-Rich Plasma in Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients: A Systematic Review.

(1) Background: Cleft lip, alveolus, and palate are the most common congenital abnormalities in the world, occurring in one in seven hundred live births. Secondary alveolar bone grafting (SABG) is usually performed when the permanent canine root shows one-half to two-thirds of root development. To improve the surgical outcome, supplemental grafting materials such as platelet-rich fibrin (PRF) and platelet-rich plasma (PRP) have been used as an adjunct. This review is designed to assess the efficacy of PRF and PRP in improving the outcome of SABG. (2) Methods: A comprehensive literature search was performed until 13 October 2022 on MEDLINE, EMBASE, The Cochrane Library, and Pubmed. The full text of potentially relevant studies was reviewed, and only randomised clinical trials (RCTs) were included based on the inclusion criteria. (3) Results: A total of 656 studies were screened, of which four were included for final review. All of the four included studies that evaluated the quantitative or qualitative surgical outcome in varied ways. (4) Conclusions: Results of this review suggest that both PRF or PRP and control group (without the use of PRF/PRP) achieved similar successful outcomes in bone height, bone density, and bone volume in both qualitative and quantitative assessment.

Prognostic utility of biopsy-based PTEN and ERG status on biochemical progression and overall survival after SBRT for localized prostate cancer.

Phosphatase and tensin homolog (PTEN) genomic deletions and transmembrane protease, serine 2/v-ets avian erthyroblastosis virus E26 oncogene homolog (ERG) rearrangements are two of the most common genetic abnormalities associated with prostate cancer. Prior studies have demonstrated these alterations portend worse clinical outcomes. Our objective is to evaluate the impact of biopsy-determined PTEN losses and TMPRSS2-ERG fusion on biochemical progression-free survival (bPFS) and overall survival (OS) in patients who receive SBRT for localized prostate cancer. Patients received SBRT for localized prostate cancer on a prospective quality-of-life (QoL) and cancer outcomes study. For each patient, the single biopsy core with the highest grade/volume of cancer was evaluated for PTEN and ERG abnormalities. Differences in baseline patient and disease characteristics between groups were analyzed using ANOVA for age and χ2 for categorical groupings. bPFS and OS were calculated using the Kaplan Meier (KM) method with Log-Rank test comparison between groups. Predictors of bPFS and OS were identified using the Cox proportional hazards method. For all analyses, p <0.05 was considered statistically significant. Ninety-nine consecutive patients were included in the analysis with a median follow-up of 72 months. A statistically significant improvement in bPFS (p = 0.018) was observed for wild type ERG patients with an estimated 5-year bPFS of 94.1% vs. 72.4%. Regarding PTEN mutational status, significant improvements in were observed in both bPFS (p = 0.006) and OS (p < 0.001), with estimated 5-year bPFS rates of 91.0% vs. 67.9% and 5-year OS rates of 96.4% vs. 79.4%. When including both ERG and PTEN mutational status in the analysis, there were statistically significant differences in both bPFS (p = 0.011) and OS (p < 0.001). The estimated 5-year bPFS rates were 100%, 76.6%, 72.9%, and 63.8% for patients with ERG+/PTEN+, ERG-/PTEN+, ERG+/PTEN-, and ERG-/PTEN- phenotypes respectively. The estimated 5-year OS rates were 93.9%, 100%, 80.0%, and 78.7% for patients with ERG+/PTEN+, ERG-/PTEN+, ERG+/PTEN-, and ERG-/PTEN- phenotypes respectively. ERG rearrangements and PTEN deletions detected on biopsy samples are associated with poorer oncologic outcomes in prostate cancer patients treated with SBRT and merit further study in a dedicated prospective trial.

Abstract 5053: Clinicopathologic and molecular genetic features of STAT3-mutated myeloid neoplasms

Abstract STAT3 is a key transcription factor that can mediate cancer progression through phosphorylation or gain-of-function mutations. STAT3 mutations have been mainly associated with large granular lymphocytic T-cell leukemia. Whereas STAT3 activation is common in myeloid neoplasms, it is primarily mediated through STAT3 phosphorylation. STAT3 mutation has only rarely been reported in myeloid neoplasms. We assessed the clinicopathologic and molecular genetic features of 32 STAT3-mutated myeloid neoplasms. Twenty (62.5%) cases were classified as acute myeloid leukemia (AML), 7 (21.9%) as myelodysplastic syndrome (MDS), and 5 (15.6%) as chronic myelomonocytic leukemia (CMML). It is of note that STAT3 mutation was not detected in myeloproliferative neoplasms (MPN). STAT3 mutations were detected at the initial diagnosis in 22 of 25 (88%) cases, suggesting STAT3 mutation is an early event in pathogenesis. However, STAT3 mutations represented the dominant clone in only 6 (18.8%) cases, all classified as AML. Most are missense mutations, located at the SH2 domain. The median variant allele frequencies were 6.8%, 4.6% and 3.1% for AML, MDS and CMML, respectively, and in a case of CMML, the VAF increased from 2.4% to 34.8% upon leukemic transformation. STAT3 mutation was accompanied by co-existing mutations in all cases, with SRSF2 (40.6%), TET2 (40.6%), ASXL1 (37.5%), and SETBP1 (34.4%) being most common. Cases with STAT3 mutations were usually associated with morphologic dysplasia and increased blasts. Monosomy 7/del7q was the most common cytogenetic abnormality, seen in 11 (34.4%) cases. With a median follow-up of 24.5 months, 21 patients died, 6 had persistent disease, and 5 achieved complete remission. We summarize that STAT3 mutation is present in a variety of myeloid neoplasms, but not seen in MPN. It is often an early events and always with concurrent mutations. It may play an important role in the pathogenesis and progression of myeloid neoplasms by activating JAK-STAT pathway, and may serve as a potential therapeutic target. Citation Format: Matthew T. Ye, Zhuang Zuo, Steliana Calin, Fengxi Ye, Hua He, Wataru Kamata, M. James You. Clinicopathologic and molecular genetic features of STAT3-mutated myeloid neoplasms [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 5053.

Assessment of Behavioral and Psychological Symptoms in Dementia, Associated Risk Factors and Clinical Correlates

Background: The presence of behavioral and psychological symptoms in dementia (BPSD) are associated with hospitalization, rapid cognitive decline, poor quality of life and higher caregiver burden. Thus, we aim to characterize the BPSD symptoms, its relationship to dementia-related risk factors and their predictive value, if any.Methodology: In 48 adults (mean age: 70.27 ± 10.08) with major neurocognitive disorder (MNCD) as per diagnostic and statistical manual of mental disorders, 5th edition and with Hindi mental status examination scores less than or equal to 23 were recruited. Patients were assessed for cognition by hindi Montreal cognitive assessment (HMOCA) and the clinical dementia rating scale (CDR). BPSD and caregiver burden were assessed using the neuropsychiatric inventory (NPI) and burden assessment schedule (BAS). The correlation of NPI scores with socio-demographic variables and clinical variables was assessed. A forward stepwise linear regression (using p-value &lt; .05) was used to identify possible predictors of the NPI scores.Results: The majority of participants were predominantly males, 25 (52.1%), from urban regions, belonged to middle-class socio-economic status and had severe grading (HMOCA (&lt; 10) of MNCD (25 (52.2%) but had moderate caregiver burden (25 (52.2%)). The most common MNCD type was due to Alzheimer’s disease (22 (45.8%)). Cortical atrophy and ischemic infarcts were the most common neuroimaging abnormalities reported (7 (14.9%)). Mean HMOCA, clinical dementia rating scale (CDR), NPI and BAS scores were 9.13 ± 6.96, 1.50 ± 1.05, 41.79 ± 27.06 and 68.65 ± 22.84, respectively. The most common BPSD domains were sleep disturbance (60.4%) and hallucinations (56.25%). Among the established risk factors, hypertension was present in the highest proportion (21 (43.8%)). As per the stepwise logistic regression model CDR scores, smoking status and HTN were predicted risk factors (R²: 0.452; p = 0.045).Conclusion: Irritability/agitation is most prevalent BPSD. The severity of MNCD, smoking and hypertension may help in the prediction of BPSD and their role may have to be explored in further studies.

Association of Histopathological and Biochemical Aspects of NAFLD With the Severity of Liver Fibrosis in Individuals With Obesity: Cross-sectional Study.

Given the importance of fibrosis in the progression of non-alcoholic fatty liver disease (NAFLD), identifying biochemical and histopathological aspects associated with its severity is important to determine the course of disease in high-risk populations. The study aims to investigate correlations between biochemical and histopathological variables associated with the occurrence and severity of NAFLD-related liver fibrosis in individuals with obesity. This is a cross-sectional study which enrolled 171 individuals who underwent bariatric surgery at a tertiary university hospital. Clinical, laboratory, and histopathological hepatic characteristics were analyzed. Univariate and multivariate analyses were carried out to identify factors associated with the outcomes studied (severity of fibrosis staging) through simple and multiple regression models. Female were 87.7%, and the mean age was 38.4 ± 9.3years. The most common histopathological abnormalities were macrovesicular steatosis (74.9%) and hepatocellular ballooning (40.4%). In the histopathological univariate analysis, liver fibrosis significantly correlated with severities of microvesicular steatosis (p = 0.003), lobular inflammation (p = 0.001), and NAS (p < 0.001). In the multivariate analysis, the degrees of microvesicular steatosis (p < 0.001) and NAS (p < 0.001) independently correlated with fibrosis severity. In the univariate biochemical analysis, fibrosis severity significantly correlated with levels of hemoglobin A1c (p = 0.004) and glucose (p = 0.01). In the multivariate analysis, glucose levels independently correlated with liver fibrosis degree (p = 0.007). Significant and independent associations were observed between the intensities of microvesicular steatosis, NAS, and glucose levels and the severity degree of liver fibrosis in individuals with obesity.