Genetic Reasons Research Articles

Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder.

Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.

Assessing disease progression in ALS: prognostic subgroups and outliers

Background The rate of disease progression, measured by the decline of ALS Functional Rating Scale-Revised (ALSFRS-R) from symptom onset to diagnosis (ΔFS) is a well-established prognostic biomarker for predicting survival. Objectives: This study aims to categorize a large patient cohort based on the initial ΔFS and subsequently investigate survival deviations from the expected prognosis defined by ΔFS. Methods 1056 ALS patients were stratified into three progression categories based on their ΔFS: slow progressors (below 25th percentile), intermediate progressors (between 25th and 75th percentiles), and fast progressors (above 75th percentile). Survival outcomes were classified as short survivors (<2 years), average survivors (2–5 years), and long survivors (>5 years). Clinical and demographic characteristics within each subgroup were then analyzed. Results ΔFS stratification yielded cutoff values of <0.29, 0.29–1.03, and >1.03 points/month. Long survivors comprised 26% and 21% were short survivors. Six percent of the fast progressors had a life expectancy of more than 5 years, and none of the clinical and demographic characteristics analyzed could fully explain this discrepancy. Conversely, 13% of intermediate progressors lived less than 2 years, according to a short-diagnostic delay in these patients. Discussion Our study reaffirms ΔFS as a prognostic biomarker for ALS. We disclosed outliers defying anticipated patterns. The observed shift in progression categories underscores the non-linear nature of disease progression. Genetic and unknown biological reasons may explain these deviations. Further research is needed to fully understand modulation of ALS survival.

P78 Plaque psoriasis and diabetes mellitus in the context of psychosis

Abstract Psoriasis is an autoimmune autoinflammatory skin disease which may affect any body area. The disease may be accompanied by metabolic syndrome, which in some cases may manifest itself as frank diabetes mellitus. Psychosis, particularly schizophrenia may also be related to the development of diabetes mellitus. The aim was to describe the case of a patient who developed plaque psoriasis at the age of 32 and diabetes mellitus Type 2 thereafter in the context of schizophrenia. A male patient aged 35 presented with plaque psoriasis. Local measures were applied to treat the disease. The patient had been diagnosed at the age of 20 with psychosis, in this particular case schizophrenia. He was on antipsychotic drug treatment. He did not require hospitalization for his mental health issue. At the age of 37 he was diagnosed with diabetes mellitus Type 2. Metformin was administered. However, the patient developed obesity and diabetes mellitus required combined treatment with metformin and vildagliptin. Plaque psoriasis requires only local measures to be controlled with. The presence of metabolic syndrome in the context of psoriatic disease is well described. However, we present the case of a patient with schizophrenia and diabetes mellitus Type 2 in the context of overt metabolic syndrome. Schizophrenia is also known to be associated with the development of diabetes mellitus Type 2. The development of diabetes mellitus in the context of schizophrenia may be related to genetic reasons. However, in our case, it may be related either to genetic reasons or to environmental pressures, or it may be the exhibition of severe stress which the patient cannot properly handle. Severe stress and the inability to cope with it may be related to the development of an autoimmune disease, such as plaque psoriasis in the context of schizophrenia. The presence of diabetes mellitus Type 2 may be related both to schizophrenia and to the metabolic syndrome described within the context of psoriatic disease.

P123 Plaque psoriasis and diabetes mellitus in the context of psychosis

Abstract Psoriasis is an autoimmune autoinflammatory skin disease which may affect any body area. The disease may be accompanied by metabolic syndrome, which in some cases may manifest itself as frank diabetes mellitus. Psychosis, particularly schizophrenia may also be related to the development of diabetes mellitus. The aim was to describe the case of a patient who developed plaque psoriasis at the age of 32 and diabetes mellitus Type 2 thereafter in the context of schizophrenia. A male patient aged 35 presented with plaque psoriasis. Local measures were applied to treat the disease. The patient had been diagnosed at the age of 20 with psychosis, in this particular case schizophrenia. He was on antipsychotic drug treatment. He did not require hospitalization for his mental health issue. At the age of 37, he was diagnosed with diabetes mellitus Type 2. Metformin was administered. However, the patient developed obesity and diabetes mellitus required combined treatment with metformin and vildagliptin. Plaque psoriasis requires only local measures to be controlled with. The presence of metabolic syndrome in the context of psoriatic disease is well described. However, we present the case of a patient with schizophrenia and diabetes mellitus Type 2 in the context of overt metabolic syndrome. Schizophrenia is also known to be associated with the development of diabetes mellitus Type 2. The development of diabetes mellitus in the context of schizophrenia may be related to genetic reasons. In our case, it may be related either to genetic reasons or to environmental pressures or it may be the exhibition of severe stress which the patient cannot properly handle. Severe stress and the inability to cope with it may be related to the development of an autoimmune disease, such as plaque psoriasis in the context of schizophrenia. The presence of diabetes mellitus Type 2 may be related both to schizophrenia as well as to the metabolic syndrome described within the context of psoriatic disease.

Recruitment of pial collaterals and carotid occlusive disease in large-vessel occlusion ischemic stroke.

Despite the fundamental role of pial collateral vessels in limiting the progression of ischemic tissue injury in acute stroke with large vessel occlusion (LVO), in addition to the fact that collateral vessel abundance varies naturally from person to person for genetic reasons, there is limited knowledge regarding potential factors contributing to inherent interindividual variation in pial collateral supply. As it has been repeatedly hypothesized that chronic carotid occlusive disease may favor pial collateralization, we aimed to investigate the association between quantitatively assessed leptomeningeal collateral supply and pre-existing carotid stenosis in patients with acute stroke due to LVO. Patients with proximal middle cerebral artery (MCA) occlusion with or without additional internal carotid artery (ICA) occlusion were included. The degree of collateral supply was quantitatively assessed based on signal variance in T2*-weighted time series in perfusion-weighted magnetic resonance imaging (PWI). Patients were stratified into two groups according to quantitative collateral status (poor and fair to good collateral supply). The prevalence of high-grade ICA stenosis (≥70%) was evaluated in both groups. A total of 98 patients (mean age 68.8 ± 16.1 years, n = 52 (53.1%) of whom were female individuals) with MCA and/or ICA occlusion were included in the final analysis. Out of these patients, 42 had poor collateral supply, while 56 exhibited fair to good collateral supply. Additionally, 18 patients showed ipsilateral high-grade ICA stenosis. After classifying the entire cohort based on their collateral status (poor vs. fair to good collateral supply), there was no significant difference in the proportion of the patients with ipsilateral high-grade ICA stenosis between the two groups. Specifically, 6 (14.3%) patients had poor collateral supply, and 12 (21.1%) patients had fair to good collateral supply. The odds ratio (OR) was 1.58, with a 95% confidence interval (CI) of 0.490-5.685 and the p-value of 0.440. In the entire patient cohort, signal variance-based collateral supply was significantly correlated with initial stroke severity (r = -0.360, p < 0.001), baseline ischemic core volume (r = -0.362, p < 0.001), and functional outcomes (score on the modified Rankin Scale) at discharge (r = -0.367, p < 0.01). In this study, we performed a quantitative and observer-independent MRI-based collateral assessment in patients with LVO. We found no significant difference in the prevalence of pre-existing high-grade ICA stenosis between patients with fair to good collateral supply and those with poor collateral supply. The potential influence of demographic and clinical variables on pial collateral supply in patients with acute stroke warrants further exploration in future studies. MRI-based collateral supply is significantly related to initial stroke severity, ischemic core volume, and early functional outcomes.

Overview of Immunological Response in Urological Membranous Nephropathy: Focus on Cytokine and Treatment Options.

Membranous nephropathy (MN) is an autoimmune disease that is caused by the production of autoantibody against glomerular podocyte antigens by immune cells due to the lack of self-tolerance mechanisms. Similar to many autoimmune diseases, the pathogenesis of MN is still vague and many experiments are being conducted to detect the antigens and genetic reasons for MN illness. Recently, new antigens, such as exotosin 1/exotosin 2, neural EGF-like-1, semaphorin 3B, and protocadherin 7 have been identified in MN patients who did not have presence of antiphospholipase A2 receptor antigen. What is more, cytokines, which are molecules that regulate immune responses, have been found to have harmful effects in various autoimmune diseases, including multiple sclerosis, rheumatoid arthritis, systemic lupus erythematosus, and MN. The role of cytokines and treatment strategies in MN patients is discussed in this article. As the understanding of the disease improves, targeted therapies that focus on specific antigens or cytokines may be developed to effectively manage MN.

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin

ObjectiveOcular toxoplasmosis (OT) can cause posterior uveitis; causes of recurrent OT are not well understood. We explored clinical, immunological and genetic properties associated with recurrent OT.Methods and analysisA recurrent OT...

Клинико-генетическая характеристика детей с подозрением на наследственные заболевания печени. Алгоритм дифференциальной диагностики

Hepatitides of unspecified etiology in children may be caused by genetic disorders. Its early detection can improve the patient management with understanding the pathogenesis, more accurately predicting the course, preventive examinations and prescribing specialized pathogenetic therapy in selected cases. However, currently there are no guidelines for the optimal diagnosis of such cases. The purpose of this research was to develop an algorithm for the differential diagnosis of hepatitides of unspecified etiology in children based on the identified clinical and genetic features of hereditary liver diseases. Materials and methods used: a single-center cohort retrospective study of 179 children with hepatitides of unspecified etiology aged 0 to 18 y/o was conducted. All patients had undergone genetic examination, based on the results of which the two groups were formed as follows: with and without genetic liver disease. Statistical analysis of the patients’ clinical, laboratory and instrumental examinations was aimed at identifying key markers for common hereditary liver diseases in different age groups as well as statistically significant differences in rare genetic reasons for hepatitis. Results: 27 different genetic liver diseases were identified in 101 (56.4%) with hepatitis of unspecified etiology. The most frequently detected diseases were Wilson's disease (41 or 40.6%), alpha-1 antitrypsin deficiency (A1AD or AATD) (9 or 8.9%) and Alagille syndrome (ALGS) (8 or 7.9%). Other hereditary pathologies occurred in isolated cases though its total incidence was nearly half of all cases (43 or 42.6%). In order to identify such cases, it is advisable to perform exome sequencing. In order to determine the indications for genetic examination, Authors have developed the mathematical model for assessing the risk of hereditary liver disease (ROC-AUC 0.787 with 95% CI: 0.696-0.877, sensitivity 69.8% with 95% CI: 57.7%-81.3%, specificity 79.2% with 95% CI: 72.3%-84.8%). Conclusion: Authors offer the suggested algorithm for differential diagnosis of hepatitides of unspecified etiology in children that includes, on the first place, the exclusion of the most common genetic liver diseases followed by exome sequencing in high-risk cases that in its turn is calculated using the developed mathematical model.

55 Influence of gender on immunosurveillance in a novel mouse model of clear cell renal cell carcinoma

Abstract Background Renal Cell Carcinoma (RCC) is a cancer that exhibits sex dimorphism. Males have twice the incidence rate of their female counterparts and more than twice the mortality rate. They frequently present with larger, higher-grade tumors, greater metastatic spread, and earlier diagnosis of disease. Many hormonal, genetic, and environmental reasons have been explored, however a considerable amount of uncertainty remains. Methods Here, we explored the immunologic differences using a novel syngeneic mouse model of ccRCC. Tumors were orthotopically implanted by sub-renal capsular injection in immunocompetent WT C57Bl/6 and immunodeficient mice NOD/Scid/Gamma (NSG) mice, and tumor growth was longitudinally monitored using ultrasound imaging. At necropsy, liver and lung metastases were quantified and immune populations in the tumor and peripheral blood were analyzed by flow cytometry. Results In the immune-competent model, female mice had lower tumor penetrance as well as delayed tumor growth compared to male mice. In contrast, in the immune-deficient model female mice had similar tumor penetrance and growth rates as males suggesting that the female immune system may be protective against tumor development. No metastases were seen in either sex in the immune-competent model, whereas both lung and liver masses were found in the immune-deficient model suggesting the immune system is critical for restricting metastatic development. Interestingly, increased lung metastases were observed in females compared with male counterparts in NSG mice, suggesting that perhaps hormonal or other non-adaptive immunity-mediated mechanisms can promote metastatic seeding into the lungs. Flow cytometry characterization revealed higher peripheral B- and T-cells in females, with a higher CD8/CD4 T-cell ratio. Tumors from females had more activated and cytotoxic CD8 T cells and were more frequently metastatic to the lung compared to male mice. Conclusions Our findings suggest sex-related immunologic differences in immunosurveillance and metastatic tropism that warrants further interrogation. DOD CDMRP Funding: yes

GCT-11. CENTRAL NERVOUS SYSTEM GERM TUMORS (CNS GCTS): RESULTS FROM A SINGLE INSTITUTION IN BRAZIL - SÃO PAULO UNIVERSITY

Abstract INTRODUCTION Central Nervous System Germ Tumors (CNS GCTs) are broadly classified as germinomatous (commonly called germinoma) and non-germinomatous germ cell tumors (NGGCTs) based on clinicopathological and laboratory characteristics, including tumor markers. OBJECTIVES Compare data from patients admitted from 2000 to 2023, with the usual presentation in the literature, identifying possible specific variables. METHODOLOGY Retrospective study involving 27 patients admitted to the institution without previous treatment. RESULTS In western countries, GCTs account for 3% to 4% of primary brain tumors in children, with a peak incidence between 10 and 19 years of age. In Japan and other Asian countries, one series reported that the incidence of GCTs in the CNS consists of approximately 15% of all pediatric CNS tumors. The genetic or environmental reasons for these differences remain unknown. In general, males have a higher incidence of GCT than females. Male patients have a preponderance of primary tumors of the pineal region. The data collected by our institution are compatible with those in the literature. CONCLUSION Our discussion and data analysis on GCTs are comparable to those presented in the literature, with the majority of cases treated being: adolescents between 10 and 15 years old, predominantly male and with a satisfactory response to therapy.

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease

Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease

Nucleotide sequence as key determinant driving insertions at influenza A virus hemagglutinin cleavage sites

Highly pathogenic avian influenza viruses (HPAIVs) emerge from H5 and H7 low pathogenic avian influenza viruses (LPAIVs), most frequently upon insertions of nucleotides coding for basic amino acids at the cleavage site (CS) of the hemagglutinin (HA). The exact molecular mechanism(s) underlying this genetic change and reasons underlying the restriction to H5 and H7 viruses remain unknown. Here, we developed a novel experimental system based on frame repair through insertions or deletions (indels) of HAs with single nucleotide deletions. Indels were readily detected in a consensus H5 LPAIV CS at low frequency, which was increased upon the introduction of only one substitution leading to a longer stretch of adenines at the CS. In contrast, we only detected indels in H6 when multiple nucleotide substitutions were introduced. These data show that nucleotide sequence is a key determinant of insertions in the HA CS, and reveal novel insights about the subtype-specificity of HPAIV emergence.

Computational Screening of Promising Deep-Ultraviolet Light Emitters.

Deep-ultraviolet (DUV) light sources are technologically highly important, but DUV light-emitting materials are extremely rare; AlN and its alloys are the only materials known so far, significantly limiting the chemical and structural spaces for materials design. Here, we perform a high-throughput computational search for DUV light emitters based on a set of carefully designed screening criteria relating to the sophisticated electronic structure. In this way, we successfully identify 5 promising material candidates that exhibit comparable or higher radiative recombination coefficients than AlN, including BeGeN2, Mg3NF3, KCaBr3, KHS, and RbHS. Further, we unveil the unique features in the atomic and electronic structures of DUV light emitters and elucidate the fundamental genetic reasons why DUV light emitters are extremely rare. Our study not only guides the design and synthesis of efficient DUV light emitters but also establishes the genetic nature of ultrawide-band-gap semiconductors in general.

Nanopore adaptive sampling of a metagenomic sample derived from a human monkeypox case.

In 2022, a series of human monkeypox cases in multiple countries led to the largest and most widespread outbreak outside the known endemic areas. Setup of proper genomic surveillance is of utmost importance to control such outbreaks. To this end, we performed Nanopore (PromethION P24) and Illumina (NextSeq. 2000) Whole Genome Sequencing (WGS) of a monkeypox sample. Adaptive sampling was applied for in silico depletion of the human host genome, allowing for the enrichment of low abundance viral DNA without a priori knowledge of sample composition. Nanopore sequencing allowed for high viral genome coverage, tracking of sample composition during sequencing, strain determination, and preliminary assessment of mutational pattern. In addition to that, only Nanopore data allowed us to resolve the entire monkeypox virus genome, with respect to two structural variants belonging to the genes OPG015 and OPG208. These SVs in important host range genes seem stable throughout the outbreak and are frequently misassembled and/or misannotated due to the prevalence of short read sequencing or short read first assembly. Ideally, standalone standard Illumina sequencing should not be used for Monkeypox WGS and de novo assembly, since it will obfuscate the structure of the genome, which has an impact on the quality and completeness of the genomes deposited in public databases and thus possibly on the ability to evaluate the complete genetic reason for the host range change of monkeypox in the current pandemic.

Detecting Polymorphism of Myosin-binding Protein C3 Gene in Persian Breed Cat With and Without Hypertrophic Cardiomyopathy

Background: In cats, hypertrophic cardiomyopathy (HCM) stands out as a prevailing heart disease. The mutations in the gene that encodes cardiac myosin-binding protein C (MYBPC3) have been detected in the Ragdoll and Maine Coon breeds. Objectives: HCM is believed to be hereditary in other breeds, too. Methods: Blood samples were collected for DNA extraction from 2 unaffected and 7 affected Persian breed cats with HCM. Besides accomplishing conventional polymerase chain reaction, DNA sequencing was performed. The sequence changes were utilized to detect single nucleotide polymorphisms in the MYBPC3 gene and predict amino acid substitutions based on the Acc. No. XM_019812396.1 and comparisons with the literature on identified breed variants and control samples. Results: Although many single nucleotide polymorphisms were found in the affected and unaffected Persian cats, no causative mutation for HCM was observed. Conclusion: In this breed, HCM does not seem to be caused solely by mutations in this cardiac gene. Potential cardiac genes should be investigated to uncover other genetic reasons for this cardiac disease in the Persian cat breed.

Application of machine learning in lung cancer prediction

Lung cancer is a life-threatening disease that is mainly caused by long-term smoking, and genetic reasons. This disease is terribly difficult to treat, but the survival rate can be largely increased by an early diagnosis. However, most people with lung cancer are not detected until the late stage. In recent years, many researchers have developed effective pre-diagnosis methods based on machine learning techniques. Machine learning technique enables the computer to learn from data and perform tasks. This review paper lists machine learning models that can be applied to lung cancer probability prediction. The models are trained by datasets of three types of backgrounds: genetic data, clinical data, and histological data. Each model uses different machine learning algorithms, and all of the models perform excellent ability in predicting. This paper suggests that machine learning models can be applied in screening for lung cancer.

The genetic underpinnings of right-wing authoritarianism and social dominance orientation explain political attitudes beyond Big Five personality.

Political attitudes are predicted by the key ideological variables of right-wing authoritarianism (RWA) and social dominance orientation (SDO), as well as some of the Big Five personality traits. Past research indicates that personality and ideological traits are correlated for genetic reasons. A question that has yet to be tested concerns whether the genetic variation underlying the ideological traits of RWA and SDO has distinct contributions to political attitudes, or if genetic variation in political attitudes is subsumed under the genetic variation underlying standard Big Five personality traits. We use data from a sample of 1987 Norwegian twins to assess the genetic and environmental relationships between the Big Five personality traits, RWA, SDO, and their separate contributions to political policy attitudes. RWA and SDO exhibit very high genetic correlation (r = 0.78) with each other and some genetic overlap with the personality traits of openness and agreeableness. Importantly, they share a larger genetic substrate with political attitudes (e.g., deporting an ethnic minority) than do Big Five personality traits, a relationship that persists even when controlling for the genetic foundations underlying personality traits. Our results suggest that the genetic foundations of ideological traits and political attitudes are largely non-overlapping with the genetic foundations of Big Five personality traits.

Estimating the Rate of Mutation to a Mutator Phenotype

A mutator is a variant in a population of organisms whose mutation rate is higher than the average mutation rate in the population. For genetic and population dynamics reasons, mutators are produced and survive with much greater frequency than anti-mutators (variants with a lower-than-average mutation rate). This strong asymmetry is a consequence of both fundamental genetics and natural selection; it can lead to a ratchet-like increase in the mutation rate. The rate at which mutators appear is, therefore, a parameter that should be of great interest to evolutionary biologists generally; for example, it can influence: (1) the survival duration of a species, especially asexual species (which are known to be short-lived), (2) the evolution of recombination, a process that can ameliorate the deleterious effects of mutator abundance, (3) the rate at which cancer appears, (4) the ability of pathogens to escape immune surveillance in their hosts, (5) the long-term fate of mitochondria, etc. In spite of its great relevance to basic and applied science, the rate of mutation to a mutator phenotype continues to be essentially unknown. The reasons for this gap in our knowledge are largely methodological; in general, a mutator phenotype cannot be observed directly, but must instead be inferred from the numbers of some neutral “marker” mutation that can be observed directly: different mutation-rate variants will produce this marker mutation at different rates. Here, we derive the expected distribution of the numbers of the marker mutants observed, accounting for the fact that some of the mutants will have been produced by a mutator phenotype that itself arose by mutation during the growth of the culture. These developments, together with previous enhancements of the Luria–Delbrück assay (by one of us, dubbed the “Jones protocol”), make possible a novel experimental protocol for estimating the rate of mutation to a mutator phenotype. Simulated experiments using biologically reasonable parameters that employ this protocol show that such experiments in the lab can give us fairly accurate estimates of the rate of mutation to a mutator phenotype. Although our ability to estimate mutation-to-mutator rates from simulated experiments is promising, we view this study as a proof-of-concept study and an important first step towards practical empirical estimation.

Genetic aspects of decreased low-density lipoprotein cholesterol values

Aim. To study genetic causes of decreased low-density lipoprotein cholesterol (LDL-C) in Russian patients.Material and methods. The study included the following Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) participants: individuals with LDL-C&lt;5th percentile, taking into account sex and age (n=52), who underwent targeted sequencing of protein-coding regions of 6 genes (APOB, PCSK9, MTTP, ANGPTL3, SAR1B, APOC3) and determination of the genetic risk score (GRS) for hypercholesterolemia; and a representative sample of the Ivanovo region population (ESSEIvanovo, n=1667), for which only GRS was determined. Genetic testing was performed using next generation sequencing.Results. In 10 (19,2%) of 52 participants with decreased LDL-C levels, the following rare variants potentially associated with hypocholesterolemia were identified: 8 — leading to a premature termination codon in the APOB gene, 1 — leading to a premature termination codon in the APOC3 gene and 1 missense variant in the PCSK9 gene. Of the 10 identified variants, 6 are described by us for the first time. GRS in the LDL-C group (0,27±0,25) was significantly lower than in the ESSE-Ivanovo population sample (0,43±0,27) (p=4,7×10-06).Conclusion. Genetic reasons explain decreased LDL-C levels (&lt;5th percentile) in 32,7% of patients, of which only monogenic variants were identified in 13,5%, a combination of monogenic and polygenic hypocholesterolemia — in 5,7%, and polygenic hypocholesterolemia — in 13,5%.

Risk factors for infant formula usage during the initial hospital stay in term and late pre-term neonates after implementation of a breastfeeding support program: A retrospective case–control study from a tertiary care hospital

Background: Infant formula usage in hospitals is inevitable in certain circumstances. We explored the high-risk groups who required formula during hospital stays during the post-intervention phase of a quality improvement initiative for improving exclusive breastfeeding (EBF) rates in hospitals. Methods: A retrospective and case–control study was conducted involving 50 cases of neonates who received infant formula and 200 control who were exclusively breastfed. Data regarding maternal and neonatal details were from breastfeeding assessment forms and case record which was collected prospectively during the program. We compared common risk factors between the two groups. Results: There was a strong association between infant formula usage and cesarean sections, assisted reproductive technology (ART) conceptions, multiple gestations, neonatal intensive care unit admissions, being small for gestational age, and being an infant of a diabetic mother. First-h breastfeeding was associated with a higher likelihood of EBF in the hospital. In the final model, ART conception, multiple gestations, and delayed initiation of breastfeeding were strong predictors of the use of infant formula in the hospital. Conclusion: Initiating breastfeeding within the 1st h promotes EBF. ART conception and multiple gestations remain strong risk factors for formula usage, the social, physiological, and genetic reasons for which will need to be studied in detail.