Title: Crafting a Comprehensive Literature Review of Osteogenesis Imperfecta

Embarking on a literature review journey can be a daunting task, especially when delving into
complex medical topics such as Osteogenesis Imperfecta (OI). This rare genetic disorder,
characterized by fragile bones and often accompanied by other health complications, demands a
thorough understanding of its multifaceted aspects. Crafting a literature review that captures the
breadth and depth of research on OI requires meticulous attention to detail, extensive research skills,
and the ability to critically analyze a vast array of scholarly works.

Navigating through numerous academic databases, sorting through countless research articles, and
synthesizing relevant information into a cohesive narrative can be a time-consuming and
intellectually challenging process. The sheer volume of literature available on OI, coupled with the
need to sift through varying methodologies, findings, and perspectives, adds another layer of
complexity to the task.

Moreover, ensuring the accuracy, relevance, and credibility of the sources incorporated into the
literature review is paramount. Distinguishing between reputable studies and anecdotal evidence,
evaluating the methodological rigor of research designs, and identifying gaps in existing literature
require a discerning eye and a firm grasp of research methodologies.

For individuals undertaking the endeavor of crafting a literature review on OI, seeking assistance
from reputable academic writing services can alleviate the burden and ensure the production of a
high-quality, well-structured review. ⇒ StudyHub.vip ⇔ offers professional assistance tailored to
the specific needs of researchers and academics, providing expert guidance in conducting literature
searches, synthesizing information, and crafting comprehensive literature reviews.

By entrusting the task to experienced professionals, researchers can save valuable time and energy
while ensuring the integrity and scholarly merit of their literature review. With ⇒ StudyHub.vip ⇔,
researchers can confidently navigate the complexities of synthesizing literature on Osteogenesis
Imperfecta and produce a review that contributes meaningfully to the body of knowledge in the field.

In conclusion, writing a literature review of Osteogenesis Imperfecta entails numerous challenges,

from navigating vast amounts of scholarly literature to critically evaluating research findings.
Seeking assistance from reputable academic writing services like ⇒ StudyHub.vip ⇔ can streamline
the process and enhance the quality of the review. With expert guidance and support, researchers can
effectively communicate the current state of knowledge on OI and contribute to advancements in
understanding and treating this rare genetic disorder.
A mutation in the Col1a1 and Col1a2 genes, which encode the. Skeletal survey showed generalised
decrease in bone density. Its hallmark feature is bone fragility with a tendency to fracture from
minimal trauma or from the work of bearing weight against gravity. We identified 644 (55.6%
females) patients in the OI cohort through the Danish National Patient Register and 3361 (55.2%
females) persons, randomly selected from the Civil Registry System. You will be able to get a quick
price and instant permission to reuse the content in many different ways. The patient also had urinary
complaints due to which ultrasound of kidney ureters and bladder (KUB) was performed, which
showed bilateral renal calculi and grade 2 renal parenchymal changes. OI type I is the most common
and mild form. 2 clinical cases of this entity are presented, evaluated at the Pereira Rossell Hospital,
in the period 2020-2021. To browse Academia.edu and the wider internet faster and more securely,
please take a few seconds to upgrade your browser. Gene sequence analysis of COL1A1 and
COL1A2 was performed for our patient. The objective of treatment is to improve quality of life
through a multidisciplinary approach including physical rehabilitation, orthopedic surgery,
pharmacological treatment with bisphosphonates, hearing management and dental anomalies. Case
report: We describe a term neonate, with a supervised pregnancy and fetal ultrasonography at 23
weeks with bone dysplasia suspicion. The disorder may occur in one out of 20,000 to one out of
60,000 live births, affecting both male and female of all races. The population prevalence of OI in
Denmark is 10.6 in 100,000. A hallmark of the disease is frequent fractures that are often precipitated
by minimal trauma. The aim of the current study was to compare the fracture rates across the lifespan
of patients with OI with that of a reference population from the general population. X-ray showed
multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. These are
two girls, ages 2 and 4, with a clinical diagnosis of OI type I in the first months of life. Fractures are
the second most common presentation after skin lesions and may present specific patterns.The
differential diagnosis between slight-moderate forms of OI and child abuse could be very
challenging especially when other signs typical of abuse are absent, since both could present with
multiple fractures without reasonable explanations. Bony bowing was found at the right femur, tibia
and fibula. Abstract: Osteogenesis imperfecta (OI) is a group of rare inherited disorders of
connective tissue with the common feature of excessive fragility of bones caused by mutations in
collagen. X-rays of chest, skull, pelvis and long bones were performed which showed osteopenic
bones, frontal bossing and multiple microfractures, which were classic for osteogenesis Imperfecta
but the child did not have other salient features such as blue sclera, otosclerosis, and respiratory
difficulty. Genetic test revealed heterozygous variant of p.(Gly328Ser) in exon 19 of the COL1A2
gene, of the missense type. Download Free PDF View PDF See Full PDF Download PDF Loading
Preview Sorry, preview is currently unavailable. Both the femoral shafts were shortened, deformed
and fragmented. X-rays of chest, skull, pelvis and long bones were performed which showed
osteopenic bones, frontal bossing and multiple microfractures, which were classic for osteogenesis
Imperfecta but the child did not have other salient features such as blue sclera, otosclerosis, and
respiratory difficulty. The first page of the PDF of this article appears above. Ethical issues related to
OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. You
can download the paper by clicking the button above. On examination, the patient had a classic frog-
shaped leg posture. The diagnosis of OI is clinical, radiological and genetic.
The provisional clinical diagnosis is osteogenesis imperfecta (OI) type III. Tap to rate Write a review
Review must be at least 10 words Home Ebooks Biology Footer menu Back to top About About
Everand Press Our blog Join our team. The disorder may occur in one out of 20,000 to one out of
60,000 live births, affecting both male and female of all races. This case report illustrates the
evaluation of the child with osteogenesis imperfecta, as well as the unique association of renal
osteodystrophy and gastroenteritis with it. OI has been classified by type according to the system
based on the mode of inheritance, clinical features, and information from the X-ray. There are four
types of osteogenesis imperfecta, namely Type I, Type II, Type III, and Type IV. Abstract:
Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the
common feature of excessive fragility of bones caused by mutations in collagen. On examination, the
patient had a classic frog-shaped leg posture. The present study was a Danish nationwide,
population?based, cohort study using register data. Both the humeral and fibular shafts were
deformed and the presentation was breech. Fractures are the second most common presentation after
skin lesions and may present specific patterns.The differential diagnosis between slight-moderate
forms of OI and child abuse could be very challenging especially when other signs typical of abuse
are absent, since both could present with multiple fractures without reasonable explanations. You will
be able to get a quick price and instant permission to reuse the content in many different ways. The
population prevalence of OI in Denmark is 10.6 in 100,000. A hallmark of the disease is frequent
fractures that are often precipitated by minimal trauma. X-rays of chest, skull, pelvis and long bones
were performed which showed osteopenic bones, frontal bossing and multiple microfractures, which
were classic for osteogenesis Imperfecta but the child did not have other salient features such as blue
sclera, otosclerosis, and respiratory difficulty. To browse Academia.edu and the wider internet faster
and more securely, please take a few seconds to upgrade your browser. OI type I is the most common
and mild form. 2 clinical cases of this entity are presented, evaluated at the Pereira Rossell Hospital,
in the period 2020-2021. Phosphocalcium metabolism is normal and they are replaced with vitamin
D3. Serum calcium, phosphate and alkaline phosphatase (ALP) levels were normal. X-rays of chest,
skull, pelvis and long bones were performed which showed osteopenic bones, frontal bossing and
multiple microfractures, which were classic for osteogenesis Imperfecta but the child did not have
other salient features such as blue sclera, otosclerosis, and respiratory difficulty. X-ray showed
multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. Bone
densitometry and radiography are the imaging studies of choice. Although several reviews of the
field have been published in various journals, there is no other single source for a compendium of
current information. Both the femoral shafts were shortened, deformed and fragmented. The text also
provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI.
The first page of the PDF of this article appears above. To browse Academia.edu and the wider
internet faster and more securely, please take a few seconds to upgrade your browser. Widened
metaphyseal plates of both femurs and humeri were also observed. Ethical issues related to OI are
discussed, as is the importance of nutrition in managing the OI child and the OI adult. Both the
femoral shafts were shortened, deformed and fragmented. Download Free PDF View PDF See Full
PDF Download PDF Loading Preview Sorry, preview is currently unavailable.
Child abuse is an important social and medical problem. This disease occurs due to changes in
collagen type 1 that form the basis of bone formation so that bones tend to be thinner and smaller.
Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child
and the OI adult. Both lower limbs appeared shortened with thick musculo-cutaneous folds. The
disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and
female of all races. Skeletal survey showed generalised decrease in bone density. Both the humeral
and fibular shafts were deformed and the presentation was breech. Made with ?? for researchers Part
of the Research Solutions Family. There are four types of osteogenesis imperfecta, namely Type I,
Type II, Type III, and Type IV. X-ray showed multiple fractures in humerus, femur and ribs and also
right sided pulmonary hypoplasia. Both lower limbs appeared shortened with thick musculo-
cutaneous folds. Download Free PDF View PDF See Full PDF Download PDF Loading Preview
Sorry, preview is currently unavailable. To browse Academia.edu and the wider internet faster and
more securely, please take a few seconds to upgrade your browser. These are two girls, ages 2 and 4,
with a clinical diagnosis of OI type I in the first months of life. On examination, the patient had a
classic frog-shaped leg posture. X-rays of chest, skull, pelvis and long bones were performed which
showed osteopenic bones, frontal bossing and multiple microfractures, which were classic for
osteogenesis Imperfecta but the child did not have other salient features such as blue sclera,
otosclerosis, and respiratory difficulty. OI type I is the most common and mild form. 2 clinical cases
of this entity are presented, evaluated at the Pereira Rossell Hospital, in the period 2020-2021. A
mutation in the Col1a1 and Col1a2 genes, which encode the. Physical exam revealed axial
hypotonia, increased anterior fontanel with distant cranial sutures and small and tapered nose. The
presentation The clinical picture is heterogeneous with skeletal manifestations, such as fractures,
deformities and growth retardation; and extra-skeletal manifestations, such as bluish discoloration of
the sclera, dentinogenesis imperfecta and hearing loss. Health problems are often seen in children and
adults who have OI include: short stature, weak tissues, fragile skin, muscle weakness, and loose
joints, bleeding, easy bruising, frequent nosebleeds, and tiny amounts of heavy bleeding from the
wound, impaired loss of hearing can begin in childhood and affects approximately 50 % of adults,
breathing problems, a higher incidence of as. To browse Academia.edu and the wider internet faster
and more securely, please take a few seconds to upgrade your browser. The text also provides the
orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. In literature
are described forms lethal in perinatal period, forms which are moderate and slight forms where the
only sign of disease is osteopenia. Bone densitometry and radiography are the imaging studies of
choice. Serum calcium, phosphate and alkaline phosphatase (ALP) levels were normal. The oldest has
a genetic study, mutation of the Col1A1 gene. Both the femoral shafts were shortened, deformed
and fragmented. Tap to rate Write a review Review must be at least 10 words Home Ebooks Biology
Footer menu Back to top About About Everand Press Our blog Join our team. The aim of the current
study was to compare the fracture rates across the lifespan of patients with OI with that of a
reference population from the general population.
Read for free FAQ and support Language (EN) Sign in Skip carousel Carousel Previous Carousel
Next What is Everand. Phosphocalcium metabolism is normal and they are replaced with vitamin
D3. Cancel anytime. Ebook 1,947 pages 20 hours Osteogenesis Imperfecta: A Translational
Approach to Brittle Bone Disease Show full title Rating: 0 out of 5 stars ( 0 ratings ) About this
ebook Osteogenesis Imperfecta is the first translational reference professionals can turn to for a
source of comprehensive information on this disorder. Download Free PDF View PDF See Full PDF
Download PDF Loading Preview Sorry, preview is currently unavailable. In comparison, 709
persons in the reference population experienced a total of. Both the humeral and fibular shafts were
deformed and the presentation was breech. Ethical issues related to OI are discussed, as is the
importance of nutrition in managing the OI child and the OI adult. The provisional clinical diagnosis
is osteogenesis imperfecta (OI) type III. The presentation The clinical picture is heterogeneous with
skeletal manifestations, such as fractures, deformities and growth retardation; and extra-skeletal
manifestations, such as bluish discoloration of the sclera, dentinogenesis imperfecta and hearing loss.
Serum calcium, phosphate and alkaline phosphatase (ALP) levels were normal. Widened metaphyseal
plates of both femurs and humeri were also observed. By 2 months of age, parents noticed
unexplained left lower limb edema, associated with severe pain and crying, and he was diagnosed
with aligned fracture of the left femur diaphysis. Both lower limbs appeared shortened with thick
musculo-cutaneous folds. Both lower limbs appeared shortened with thick musculo-cutaneous folds.
They share the presence of three fragility fractures in long bones, tibial bone deformities,
hypermobility, and blue sclerae. Its hallmark feature is bone fragility with a tendency to fracture
from minimal trauma or from the work of bearing weight against gravity. You will be able to get a
quick price and instant permission to reuse the content in many different ways. Discussion 4
Introduction 1 Citation Types Supporting 0 Mentioning 14 Contrasting 0 Unclassified 3 Year
Published 2016 2016 2023 2023 Publication Types Select. Gene sequence analysis of COL1A1 and
COL1A2 was performed for our patient. Skeletal survey showed generalised decrease in bone
density. The role of physical medicine and rehabilitation for OI patients is also presented, along with
the current status of OI medical treatment and the prospects for genetic engineering in the future.
The youngest is short and both have normal development. This disease occurs due to changes in
collagen type 1 that form the basis of bone formation so that bones tend to be thinner and smaller.
Child abuse is an important social and medical problem. X-rays of chest, skull, pelvis and long bones
were performed which showed osteopenic bones, frontal bossing and multiple microfractures, which
were classic for osteogenesis Imperfecta but the child did not have other salient features such as blue
sclera, otosclerosis, and respiratory difficulty. Both the femoral shafts were shortened, deformed and
fragmented. The present study was a Danish nationwide, population?based, cohort study using
register data. This case report illustrates the evaluation of the child with osteogenesis imperfecta, as
well as the unique association of renal osteodystrophy and gastroenteritis with it. The patient also had
urinary complaints due to which ultrasound of kidney ureters and bladder (KUB) was performed,
which showed bilateral renal calculi and grade 2 renal parenchymal changes. X-ray showed multiple
fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia.