Congenital abnormalities - PowerPoint PPT Presentation

Exploring the definitions of infant mortality and safe sleep practices, this content delves into the Infant Mortality Ratio (IMR) and Sudden Unexpected Infant Death (SUID) Mortality Ratio. Data sources such as vital records and the Pregnancy Risk Assessment Monitoring System (PRAMS) shed light on th

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The Prenatal Diagnostic Techniques Act of 1994 in India aims to curb female foeticide and address the dwindling sex ratio by prohibiting prenatal sex determination. This legislation regulates diagnostic methods, prevents sex selection, and focuses on detecting genetic disorders, metabolic abnormalit

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Newborn female with VACTERL association, imperforate anus, and perianal skin tag identified at birth. Patient transferred for surgical intervention and further workup due to associated abnormalities. Imaging studies show multiple sacral vertebral anomalies. Differential diagnosis includes genetic sy

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This in-depth article delves into the various types of red blood cell abnormalities seen in anemia, such as anisocytosis, poikilocytosis, spherocytes, ovalocytes, acanthocytes, codocytes, drepanocytes, and stomatocytes. It explains the characteristics of each abnormality, their significance in diffe

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This presentation covers the pathophysiology, associated anomalies, diagnosis, consequences, and management of congenital diaphragmatic hernia (CDH). It discusses prenatal interventions, postnatal strategies, anesthetic considerations, and long-term concerns in CDH repair. Understanding the complexi

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Social Vulnerability in Congenital Syphilis cases among mothers in Indiana is a pressing issue. Despite being preventable, the rise in cases signals a failure in detection and care systems. The trend of increasing cases is associated with a rise in infectious syphilis among women. This qualitative a

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Karyotypes are photographic inventories of an individual's chromosomes, helping determine genetic sex and detect abnormalities. Common chromosomal conditions like Down syndrome, Klinefelter's syndrome, and Turner's syndrome are discussed, along with the impact of abnormal sex chromosomes on characte

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Anorectal malformations are congenital abnormalities involving the development of the anal canal and sphincter muscles. They may present with imperforate anus, fistulous connections, or rectal atresia. Classification in males and females helps in determining the types of surgical treatments required

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Choledochal cysts are congenital anomalies of the biliary tract characterized by cystic dilatation at various segments. They can lead to complications like biliary cirrhosis and recurrent pancreatitis. Clinical features include jaundice, abdominal pain, and right epigastric mass. Early detection is

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Explore congenital hand abnormalities such as macrodactyly, trigger thumb, clasped thumb, preaxial deficiency, and syndromes like Holt-Oram Syndrome and Fanconi Anemia. Learn about assessment, intervention plans, and common treatments provided by experts in reconstructive plastic and hand surgery.

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Heart failure is a condition where the heart struggles to pump blood efficiently, leading to various complications. It can affect different sides of the heart, with causes ranging from coronary artery disease to valve problems. Congenital heart diseases, on the other hand, are common anomalies prese

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Portal vein imaging is crucial for evaluating conditions affecting the abdominal part of the gastrointestinal tract. Techniques such as spleno-portography and CT triphasic contrast imaging are used to visualize the portal vein and diagnose anomalies like portal-systemic collaterals and porto-systemi

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Akabane disease, also known as Enzootic Bovine Arthrogryposis and Hydranencephaly, is a viral illness transmitted by arthropods that primarily affects calves, lambs, and kids. The disease can lead to congenital abnormalities such as joint immobility and absence of the cerebral hemisphere. It is caus

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Sally Kennedy, a UK physiotherapist, explores gait abnormalities common in older individuals and those with neurological conditions. The content delves into the stages of the normal gait cycle, from initial contact to mid-swing, highlighting the importance of identifying and managing common gait pro

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Understanding pathological gait variations related to hip joint differences is crucial in gait analysis. Excessive sagittal, coronal, and transverse plane motions impact stance and swing phases, leading to deviations in gait patterns. Excess flexion, limited flexion, past retraction, excess adductio

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Numerical chromosome aberrations involve the gain or loss of whole chromosomes, impacting the genome size and potentially leading to genetic mutations. Nondisjunction, where chromosomes fail to separate properly during cell division, can result in aneuploidy - the presence of an extra or missing chr

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Chromosomal aberrations and mutations are key events that can alter the genetic structure of organisms. They can lead to numerical abnormalities like aneuploidy and structural abnormalities such as ring chromosomes and chromosome fragments. Understanding these variations in chromosomes is crucial in

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Human cells have 22 pairs of autosomes and one pair of sex chromosomes, totaling 46. Karyotypes help diagnose chromosomal abnormalities by aligning chromosomes in size order. Nondisjunction during meiosis can lead to abnormal chromosome numbers in gametes. Disorders like Down Syndrome, XYY Syndrome,

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This lecture covers essential topics in human genetics, focusing on mitosis, meiosis, and chromosomal abnormalities. Students will learn about the events in mitosis and meiosis, non-disjunction, and classification of chromosomal anomalies, including numerical and structural abnormalities. Detailed e

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Initial clinical evaluation of a child with possible cardiac abnormalities includes history taking and physical examination. History should cover symptoms related to pulmonary and systemic venous congestion, cyanosis, cyanotic spells, palpitations, chest pain, and more. The general physical examinat

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Exploring the definitions of congenital heart disease and exercise, this content delves into the benefits and risks associated with physical activity for individuals with CHD. It highlights the importance of different types of exercise, from dynamic to static, and explains the distinctions between m

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This content delves into the assessment and diagnosis of Autism Spectrum Disorder (ASD) with a focus on early markers, DSM-5 criteria, language/communication abnormalities, social interaction abnormalities, and repetitive behaviors/unusual interests. It provides a comprehensive overview of the key a

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There is a growing focus on antenatal assessment to prevent fetal deaths, with a decline in maternal mortality rates worldwide. The primary goal is to ensure fetal well-being, screen high-risk factors, and detect congenital abnormalities early on. Various tests like Maternal Serum Alpha-Fetoprotein

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In the upcoming event on October 17, 2023, the Society of Thoracic Surgeons will host a webinar focusing on the Congenital Heart Surgery Database along with essential updates and education for STS data managers. The session will cover a wide range of topics such as case inclusion requirements, data

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Club foot, also known as Congenital Talipes Equinovarus, is a condition characterized by a tri-planar deformity of the foot. This article covers the aetiology, clinical features, diagnosis, treatment options, and patient management strategies for club foot. It discusses the gene variations, environm

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This informative content covers the causes and features of cyanotic congenital heart disease, including central cyanosis due to congenital heart diseases like Tetralogy of Fallot, pulmonary atresia, Ebstein anomaly, and more. It also discusses non-cardiac causes of cyanosis related to lung diseases,

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Birth defects refer to abnormalities present in babies at birth, regardless of genetic or prenatal causes. They affect 2-3% of babies in the US, making them a leading cause of infant mortality. Structural defects like cleft lip/palate, spina bifida, and club foot can impact a child's health and deve

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Delve into the highly specialised commissioning of Congenital Myasthenic Syndromes by Professor Jacqueline Palace from the Nuffield Department of Clinical Neurology at John Radcliffe Hospital, Oxford. Explore key messages, learning objectives, and disclosures related to diagnosing, differentiating,

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A case report presented at the 9th Annual State Ophthalmological Conference TOSCON 2024 discusses a young male patient grappling with unexplained vision loss and hormonal abnormalities. The patient exhibited symptoms of headache, diminished vision in the left eye, and an unusual head-turning behavio

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This study examines the association between ECG abnormalities and incident CVD events in patients with type 1 diabetes, focusing on the prognostic significance in a population where CVD develops earlier. Major and minor ECG abnormalities were classified, with cardiovascular events such as myocardial

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Congenital hypothyroidism requires early diagnosis and prompt treatment initiation for optimal outcomes. Factors influencing treatment success include the age of starting treatment, severity of hypothyroidism, starting dose of medication, and ongoing monitoring of thyroid levels. Studies suggest tha

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The case report discusses a 5-day-old newborn with congenital anophthalmos, a rare condition characterized by the absence of the eye globe since birth. The patient presented with a deformed right eye and examination revealed a complete absence of ocular tissue in the right eye socket along with norm

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Congenital heart diseases are abnormalities in the heart's structure present at birth. Factors like viral infections, genetic conditions, and maternal health contribute to these conditions. There are non-cyanotic and cyanotic classifications based on shunting patterns. Examples include atrial septal

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Explore the terminology, causes, characteristics, and results of genetic and congenital disorders, as well as the disorders of single-gene inheritance. Learn about autosomal dominant disorders like Marfan Syndrome and Neurofibromatosis. Discover how single-gene disorders are inherited and their impa

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This module provides comprehensive information on evaluating, testing, and reporting cases of congenital Zika virus infection. Learners will gain insights into guidelines, case definitions, and the importance of accurate reporting for better surveillance. Access to updated resources and the impact o

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A 45-year-old male with gait abnormalities was referred for evaluation, with an unknown inheritance and deceased parents. His father had a history of ataxia and tremor. Using the GAIN scoring metric, the genomic content was assessed, including the presence of protein-coding genes, established TS gen

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This content provides detailed information and images on various types of Cyanotic Congenital Heart Diseases (CCHD) including CCHD with low PBF, CCHD with high PBF, TOF equivalents, Eisenmenger syndrome, inter-circulatory mixing, and more. It explores causes of cyanosis, classifications based on phy

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Reproductive disorders in animals can lead to infertility or sterility, affecting their ability to reproduce. Causes include congenital, hormonal, nutritional, infectious, and management factors. Congenital or hereditary causes may involve conditions like hermaphroditism, freemartin syndrome, and ov

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The gallbladder and bile duct anatomy includes details on shape, length, capacity, blood supply, lymphatics, physiology, bile production, functions, investigations, congenital abnormalities, types of obstructions, clinical features, differential diagnosis, and treatment options including surgery and

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This provides information about Craniovertebral Junction Surgery. The surgery may be required for congenital abnormalities, trauma or fractures, tumors affecting the skull or upper spine, infections causing instability, or compression of the brainste

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