Congenital abnormalities - PowerPoint PPT Presentation


Insights on Infant Mortality and Safe Sleep Practices in Illinois

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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Understanding Ventricular Septal Defect (VSD) and Treatment Options

Ventricular Septal Defect (VSD) is a common congenital heart condition characterized by a hole in the septum between the heart's ventricles. This defect can lead to various complications and is often associated with chromosomal disorders. Different types of VSD exist, each requiring tailored treatme

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Understanding Embryology: From Conception to Critical Periods

Embark on a journey through the fascinating world of embryology with Dr. Sanaa Al Sharawi and Dr. Essam Salama. Delve into the definition, significance, and developmental periods of embryology, learning about prenatal and postnatal stages, common terminologies like oocyte and zygote, and critical pe

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Newborn Screening Market Share to be Worth $2.69 Billion by 2031

Newborn screening is a screening program for infants under which pre-symptomatic congenital conditions are detected so that treatment can be commenced as soon as possible to prevent or reduce the long-term consequences of the disease. These programs are usually run by the national or state governing

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Understanding the Prenatal Diagnostics Techniques Act of 1994 in India

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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Case Study: VACTERL Association in a Newborn Female with Imperforate Anus

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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Affections of Salivary Glands in Veterinary Surgery: Overview and Treatment

Salivary gland affections in animals, particularly dogs, are discussed, highlighting the main pairs of salivary glands and their locations. The content covers details on the parotid, mandibular, sublingual, and zygomatic glands, along with their respective ducts. Information on congenital and acquir

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Veterinary Management of Jaw Affections and Treatments

Affections of the jaw in animals can range from congenital conditions to inflammatory diseases like gnathitis and lymphadenitis. Paralysis of the lower jaw, gnathitis from bit injuries, and lymphadenitis are discussed, along with their etiology, clinical signs, and treatment options such as general

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Margaret Hackett Family Program Overview for CNS Anomalies

The Margaret Hackett Family Program at UChicago Medicine is dedicated to advancing care and research for patients with congenital anomalies of the central nervous system. Through pillars focused on providing compassionate care, establishing a network of experts, creating resources for navigating tre

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Maternal and Fetal Complications of Obesity in Pregnancy

Understanding the impact of obesity stigma as a stressor throughout the lifecourse is essential, especially concerning pregnancy. The prevalence of pre-pregnancy overweight and obesity poses significant risks, leading to various maternal complications like gestational diabetes, cesarean delivery, an

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Comparative Analysis of Glaucoma Management Practices in Uganda and the UK

Glaucoma, the 3rd leading cause of blindness in Uganda, is primarily managed by General Ophthalmologists across 20 hospitals in the country. Uganda lacks Glaucoma subspecialists and specialized nurses. Equipment availability varies among hospitals. Cases in Uganda are typically identified through re

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Understanding Red Blood Cell Abnormalities in Anemia: A Detailed Overview

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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Understanding Thyroid Disorders in Children - Clinical Case Study

This clinical case study focuses on a pediatric patient presenting with abdominal enlargement and a history of delayed development. Key aspects covered include birth and maternal history, immediate postnatal course, developmental milestones, and past medical history. The diagnosis process involves c

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Understanding Diseases of the Hair, Wool, Follicles, and Skin Glands

Diseases of the Hair, Wool, Follicles, and Skin Glands covers various conditions like alopecia, hypotrichosis, and the failure of follicles to develop or produce fibers. It discusses causes, pathogenesis, clinical findings, and treatments related to hair and skin issues. The content delves into cong

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Understanding Impotentia Generandi in Male Animals

Inability or reduced ability to fertilize the ovum due to testis, epididymis, or accessory sex gland pathology is known as Impotentia Generandi. This condition can be associated with normal or abnormal semen production, affecting fertility in male animals. Factors like congenital or acquired defects

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Understanding Clinical Registries: Key Concepts and Implementation Strategies

Clinical registries play a crucial role in tracking real-world data and outcomes for various medical conditions. They are observational databases that collect data systematically for specific purposes. Distinct from clinical trials, registries provide insights into broader patient populations and re

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Understanding Microcephaly: Causes, Classification, and Implications

Microcephaly is a medical condition characterized by a smaller than normal head circumference due to underdeveloped or halted brain growth. It can be congenital or develop postnatally, with varying degrees of severity and associated anomalies. Pathogenesis is complex, involving genetic and environme

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Coding Guidelines for Newborn Conditions

Understand the coding guidelines for newborn conditions, including the identification of clinically significant conditions, the use of supplemental oxygen and bag ventilation, and the classification of congenital anomalies. Learn when to assign procedure codes and how to interpret the ICD-9-CM Offic

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Anesthesia Considerations for Tracheoesophageal Fistula Repair

Tracheoesophageal fistula (TEF) is a rare abnormal connection between the esophagus and trachea, often associated with congenital anomalies. This article covers TEF clinical presentation, prevalence, diagnosis, management, and anesthesia considerations. Understanding TEF and its related syndromes is

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Understanding Congestive Heart Failure: From Pathophysiology to Clinical Practice

Congestive heart failure (CHF) is a condition characterized by systemic and pulmonary congestion due to the heart's inability to pump sufficient blood for the body's metabolism. It is closely linked to age and involves pathophysiology related to preload, afterload, contractility, and heart rate. Man

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Comprehensive Management of Congenital Diaphragmatic Hernia

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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Understanding the Impact of Congenital Syphilis in Indiana

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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Understanding Karyotypes and Chromosomal Abnormalities

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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Understanding Anorectal Malformations in Pediatric Surgery

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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Understanding Impotentia Generandi in Male Animals

Inability or reduced ability to fertilize the ovum due to testicular pathology is known as Impotentia Generandi. It can be associated with abnormal or apparently normal semen production, affecting the fertility of male animals. Conditions such as brucellosis, cryptorchidism, and congenital defects l

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Surgical Plan for Repairing Hypospadias Procedure

This surgical plan outlines the step-by-step process for repairing hypospadias, a congenital condition affecting the male urethra and penis. The procedure includes strategies for scrotoplasty, reconstructing penile skin, glans suturing, urethrotomy, and catheterization. Detailed instructions are pro

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Understanding Choledochal Cysts: A Congenital Anomaly of the Biliary Tract

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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Pediatric Neck Masses: Causes and Anatomy Explained by Dr. Nitin Sharma

Learn about pediatric neck masses, their causes including congenital, inflammatory, and malignant factors, and the embryology and anatomy behind them. Detailed insights are provided on the branchial system, its arches, pouches, and the structures they contribute to in the neck. Dr. Nitin Sharma, a h

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Understanding Congenital Hand Abnormalities and Associated Syndromes

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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Understanding Heart Failure and Congenital Heart Diseases

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 Techniques and Anomalies Overview

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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Understanding Akabane Disease: Causes, Symptoms, and Prevention

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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Understanding Gait Abnormalities and Re-Education: A Comprehensive Analysis by Sally Kennedy

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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Pathological Differences in Hip Joint Variations: Abnormal Gait Analysis

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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Understanding Numerical Chromosome Aberrations in Humans

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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Understanding Chromosomal Aberrations and Mutations in Genetics

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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Understanding Chromosomal Abnormalities and Syndromes

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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Understanding Chromosomal Anomalies in Human Genetics

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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Comprehensive Clinical Evaluation of Children with Cardiac Abnormalities

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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Benefits and Risks of Exercise in Congenital Heart Disease

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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