Osteogenesis imperfecta is a genetic disorder that causes bone fragility and fractures. There are several classifications and clinical features are dependent on severity. Treatment involves bisphosphonates to increase bone density and reduce fractures, bracing to prevent fractures and allow mobility, and surgery to correct deformities. The goal of treatment is to maximize function and ambulation while preventing further fractures and deformity.
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
Madelung deformity is an abnormality of the palmar ulnar part of the distal radial physis in which progressive ulnar and volar tilt develops at the distal radial articular surface, with dorsal subluxation of the distal ulna.
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
Madelung deformity is an abnormality of the palmar ulnar part of the distal radial physis in which progressive ulnar and volar tilt develops at the distal radial articular surface, with dorsal subluxation of the distal ulna.
This is a presentation I did last semester in which I discuss how the OTPF applies to osteogenesis imperfecta. I collected data from scholarly as well as non-scholarly resources. I hope this is helpful to you.
¿Qué es la osteogenesis imperfecta?
enfermedad de los huesos de cristal
¿Porqué se presenta la osteogenesis imperfecta?
¿Es tratable la Osteogenesis imperfecta?
This was a presentation done at Kanungo Institute of diabetic Specialitis Bhubaneswar . the audience included the students from Karolinkska Institute Sweden
Nathalie was diagnosed with osteogenesis imperfecta (Type IV) as a toddler. Osteogenesis imperfecta is a congenital genetic condition that causes brittle bones which fracture easily from minor impact and in some cases for no reason. As a result, Nathalie experienced multiple fractures throughout her childhood which required several surgical procedures.
Given the nature of osteogenesis imperfecta, these childhood fractures were to be expected. However, Nathalie’s parents’ diligence in immediately seeking care has helped to limit the long-term effects that could have resulted from her injuries. Nathalie is now in her early teens and doing very well overall.
http://www.davidsfeldmanmd.com/patient-education/case-studies/nathalie-osteogenesis-imperfecta
Foot Solutions offers other treatments, including forefoot products designed to relieve hammer toes, such as hammer toe crests and hammer toe splints. These devices will help hold down the hammer toe and provide relief to the forefoot. Gel toe shields and gel toe caps are also recommended to eliminate friction between the shoe and the toe, while providing comfort and lubrication.
Hammer Toes: American college of foot and ankle surgeons. An insight into what a hammertoe is and possible treatments for hammertoes including hammertoe correction surgery. via American College of Foot and Ankle Surgeons
Description : Osteogenesis Imperfecta/
Brittle bone disease :
It is disorder of type I collagen synthesis that affects all connective tissue in the body.
Musculoskeletal involvement is diffuse and includes osteoporosis with excessive fracture even at birth, bowing of long bone, spinal deformities, muscle weakness and ligamentous laxity.
Key words :
Osteogenesis Imperfecta, Brittle bone disease, Genetic disorder, Pathophysiology, Types of OI, Denetinogenesis Imperfecta, Bluish sclera, Frequent fractures, fractures, Hearing loss, Management, orthopedic, Rehabilitation
Physiotherapy, pediatrics, physiotherapist, pediatric orthopedic surgery.
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Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
2. INTRODUCTION
• Osteogenesis imperfecta is a genetic disorder
of connective tissue with the clinical feature of
bone fragility, long-bone fractures, skeletal
deformity, blue sclerae, hearing loss, and
fragile, opalescent teeth (dentinogenesis
imperfecta).
• Less severe manifestations may include
generalized ligamentous laxity, hernias, easy
bruisability, and excessive sweating.
3. • osteogenesis imperfecta congenita (also
known as Vrolik disease)
• osteogenesis imperfecta tarda (also known as
Ekman-Lobstein disease
4. PATHOPHYSIOLOGY
• Defect in the genes responsible for encoding
type I collagen
• Leading to absolute reduction in the amount
of normal type I collagen in bone or its
replacement with a poorly functioning mutant
collagen.
5. • The formation of both enchondral and
intramembranous bone is disturbed. The bone
trabeculae are thin and lack an organized
trabecular pattern.
• The intracellular matrix is reduced.
• osseous tissue almost always of the woven
variety.
• The secondary centers of ossification in the
epiphysis are delayed in maturation
6. • Gross anatomic findings--- consist of porosis
(osteopenia), diminution in size, and skeletal
deformities secondary to fracture and
asymmetric physeal growth disturbance.
• The cartilaginous epiphyseal ends of the long
bones are disproportionately large and have
some irregularity of the articular surface.
7. SHAPIRO'S CLASSIFICATION
• Osteogenesis imperfecta congenita A
• In utero or birth fractures; short, broad,
crumpled femora and ribs
• F/H/O--0%
• Deaths---15/16 (94%)
• One survivor wheelchair bound
8.
9.
10. • Osteogenesis imperfecta congenita B
• In utero or birth fractures, normal long bone
contours, no chest deformity
• F/H/O--4%
• Death---2/27 (8%)
• 59% wheelchair bound; 33% at least
household ambulators
11. • Osteogenesis imperfecta tarda A
• Fractures after birth but before walking
• F/H/O---11%
• Death--0/21 (0%)
• 33% in wheelchair; 67% ambulatory
12. • Osteogenesis imperfecta tarda B
• Fractures after walking
• F/H--76%
• Death--0/21 (0%)
• 100% ambulatory
13. CLASSIFICATION--- SILLENCE
• IA
• AD
• Teeth-- N
• Long bone deformity--Moderate
• Short stature, 2% to 3% below mean
• Hearing loss—40%
• Prognosis--Fair
• Eyes--Distinctly blue throughout life
• Scoliosis and kyphosis in 20%
• Wormian bones on radiographs
14. • IB
• AD
• Dentinogenesis imperfecta
• Long bone deformity--Moderate
• Short, 2% to 3% below mean
• Hearing loss—40%
• Prognosis--Fair
• Distinctly blue throughout life
• Scoliosis and kyphosis in 20%
• Wormian bones on radiographs
15. • II
• AR
• Teeth--Unknown (because of Perinatal death)
• Crumbled bone (accordion femora) marked
• Unknown (because of perinatal death)
• Perinatal death
• Blue sclera
• Marked absence of ossification
16. • III
• AR
• Dentinogenesis imperfecta
• Progressive bowing of the long bones and spine
• Severe—smallest of all patients with Osteogenesis
imperfecta
• Nonambulatory, wheelchair bound
• Bluish at birth, become less blue with age, white in
adult
• Kyphoscoliosis
• Hypoplastic, more ossified than in type II
• May die in third decade
• Wormian bones
17. • IVA
• AD
• teeth-- N
• Moderate
• Short stature
• Low frequency
• Fair
• Normal
• Kyphoscoliosis
• Hypoplastic
• Wormian bones
18. • IVB
• AD
• Dentinogenesis imperfecta
• Moderate
• Short stature
• Low frequency
• Fair
• Sclerae--Normal
• Kyphoscoliosis
• Hypoplastic
• Wormian bones
19. CLINICAL FEATURES
• In the severe congenital form (Sillence's type
II)--- multiple fractures from minimal trauma
during delivery or in utero cause the limbs to
be deformed and short. Crepitation--- by
palpation at fracture sites. The skull is soft and
membranous.
• usually fatal, with death secondary to
intracranial hemorrhage or respiratory
insufficiency caused by incompetency of the rib
cage; the infant is stillborn or lives only a short
time.
20. • In the nonlethal forms (Sillence's types I, III, and
IV) --- fractures can occur after the slightest
injury. The femur is more commonly fractured
than the tibia. Fractures heal at a normal rate;
nonunion is relatively rare but does occur.
Growth may be arrested by multiple
microfractures at the epiphyseal ends.
• Typically, an anterolateral bow or proximal varus
deformity of the femur develops;
• an anterior or anteromedial bow of the tibia may
develop.
21. • Acetabular protrusion may be present.
• The humerus-- angled laterally or anterolaterally.
• The forearm rotation is often severely limited.
The elbow joint has cubitus varus with flexion
contracture.
• The faciocranial disproportion--- gives the face a
triangular, elfin shape.
• The ears are displaced downward and outward.
The configuration of the skull --- soldier's helmet
and is called “helmet head.”
22. • Spinal deformity---Scoliosis or kyphosis, or both
may be present.
• The most common type of curve is thoracic
scoliosis. Spondylolisthesis, Cervical spinal
fractures
• Short stature
• Hypermobility of joints --- Pes valgus, recurrent
DDH can occur.
• Adults may be predisposed to rupture of the
patellar ligament or Achilles tendon.
23. • Muscles are hypotonic.
• Blue sclera--- opacity in the periphery of the
cornea, and Retinal detachment may occur.
• Deafness-- usually beginning in adolescence or
adulthood.
24.
25.
26.
27.
28. Radiographic Findings
• SEVERE FORM--- The long bones of the limbs
are short and wide with thin cortices. The
diaphyses are as wide as the metaphyses.
• numerous fractures in various stages of
healing. Multiple rib fractures and atrophy of
the thoracic cage.
• “Popcorn” calcifications in the metaphyseal
and epiphyseal areas of long bones close to the
growth plate. appear in childhood and usually
resolve after the completion of skeletal growth.
29. • The skull has a mushroom appearance with
very thin calvaria with marked paucity and delay
in ossification.
• Wormian bones are present
• The spine shows marked osteoporosis;
biconcave vertebrae, Scoliosis and kyphosis.
• In the hip, coxa vara and acetabular protrusion
may be found.
30. • Plain film
• This is the preferred initial examination.
• head, neck & spine :
• Wormian bone
• Kyphoscoliosis
• Codfish vertebrae
• Vertebral compression #s
• Pectus excavatum/carinatum
31. • general :
• Severe osteoporosis
–deformed bones
–cortical thinning
–hyperplastic callus formation
–zebra stripe sign-- cyclic bisphosphonate
treatment produces sclerotic growth
recovery lines in the long bones
–formation of pseudoarthroses at sites of
healing fractures
32.
33.
34.
35.
36. PRE-NATAL ULTRASOUND
• often useful in the type II (peri natal) and type III forms.
• may show decreased calvarial ossification
– this may result over visualisation of fetal brain detail
– the skull may deform / compress with transducer pressure
• may show evidence of fractures
– long bones may appear shortened and / or angulated as a
result
– there may be a sonographic gap along the length of a long
bone
– rib may nave a beaded appearance
• there may be presence of polyhydramnios
37. DIFFERENTIAL DIAGNOSIS
• In the newborn period and in early infancy,
Sillence's type II OI should be distinguished
from congenital hypophosphatasia-- a lethal
affection, laboratory tests will show a low
phosphatase level in serum, lack of alkaline
phosphatase activity in leukocytes, and
excessive excretion of
phosphorylethanolamine in urine.
38. • Camptomelic dwarfism with osteogenesis
imperfecta because of the congenital bowing
and angulation of the long bones. Fractures,
however, are not a feature of this type of
dwarfism
39. • Patients with PYKNODYSOSTOSIS may have a
propensity to fracture. Patients with this
condition will have bony sclerosis evident on
radiographs, persistently wide cranial
fontanelles, micrognathism with absence of
the mandible, hypoplasia of the clavicles, and
osteolysis of the terminal phalanges of the
fingers.
40. TREATMENT
• The ideal treatment of osteogenesis
imperfecta would be to correct the basic
genetic defect by replacing the defective
COL1A1 or COL1A2 gene with a normal one.
That capability, of course, does not yet exist.
• MEDICAL TREATMENT---
• Bisphosphonates
• Bone marrow transplantation
41. BISPHOSPHONATES
• Pamidronate-- is administered I/V in dosages
ranging from 15 mg given every 20 days to 7
mg/kg/yr given every 4 to 6 months,
• improvement in generalized bone pain and a
reduced incidence of fractures
• Delayed healing of fractures or osteotomies has
been reported in children treated with
pamidronate
42. • Oral agent
• Alendronate-- given over a period of 4 years
was associated with reduced frequency of
fracture and improved ambulatory or mobility
status and improved Bone mineral density
43. ORTHOPAEDIC TREATMENT
• The goal of orthopaedic treatment is---
• to maximize the affected patient's function,
• prevent deformity and disability resulting
from fractures,
• correct deformities that have developed, and
• monitor for potential complicating conditions
associated with osteogenesis imperfecta.
44. ORTHOTIC TREATMENT
• Infants with birth fractures usually need only
careful, supportive handling to prevent further
injury.
• If long-bone fractures are unstable, minimal
external splinting may be used to stabilize the
affected limb--heal within a week or two
• avoid excessive or prolonged immobilization at
any age --aggravate the osteopenia and induce
joint stiffness, either of which in turn increases
the risk for fracture
45. • Protective bracing to prevent fractures and aid in
ambulation is a mainstay in the conservative
management of patients with osteogenesis
imperfecta
• lightweight plastic and metal hip-knee-ankle-foot
orthoses (HKAFOs) –
• for effective lower extremity bracing
• To allow patients to stand or walk
• To reduce the incidence of lower extremity
fractures
• Lightweight air-filled fluted trouser splints-- an
effective simple alternative to HKAFOs
47. Management of Long-Bone Fractures
• General observations---
• most fractures heal,
• recurrent fractures are common, and
• inherent osteopenia may be aggravated by
prolonged immobilization, thus making the
patient even more susceptible to fracture
48. • General management principles are –
• fractures should be immobilized only until
symptoms resolve, with the minimum amount of
external immobilization required to provide
comfort
• encourage to return judiciously to their usual
level of activity as soon as feasible
• Radiographs are not always required, especially if
the fracture is not grossly unstable or does not
result in a new deformity
49. • Fractures in a newborn, if unstable or interfering
with normal handling, may be splinted with
padded tongue depressors, padded aluminum
splints, or plaster splints. Usually, only a week or
two of splinting will be required until the fracture
has stabilized.
• Fractures in an older child or adult, with relatively
minor involvement, should be treated by means
appropriate to the fracture, including reduction
and casting, percutaneous pinning, or internal
fixation.
50. • general principle, intramedullary fixation is
preferable to plates and screws whenever
possible because of the stress risers produced by
the latter
• displaced fracture of the olecranon-- often occur
bilaterally, though not usually simultaneously--
can be managed by tension band wiring
• Nonunion is an uncommon sequela of fracture or
surgery, but it does occur--most commonly in the
femur and humerus >> the radius, ulna, and
pubis
51. Management of Long-Bone Deformity
• most important indication for surgical correction
of long-bone deformity is-- repeated fractures
induced by the deformity
• to remove the deformity to allow bracing either
for protection against further fractures or to aid
in ambulation
52. • Long-bone deformity in infants and children can
be corrected by–
• closed osteoclasis without intramedullary
fixation,
• by closed osteoclasis with percutaneous
intramedullary fixation, and
• by open osteotomy with internal fixation
(Sofield's Procedure)
• external fixation by the Ilizarov circular fixator
with wire fixation and osteotomy-- to correct
long-bone deformity in young adult patients
53. COMPLICATIONS
• Hyperplastic callus formation
• Tumors-- Osteogenic sarcoma
• aneurysmal bone cyst, and unicameral bone
cyst
• Basilar impression