The document discusses Klippel-Feil syndrome, a congenital fusion of two or more cervical vertebrae. It causes a short neck and restricted neck movement. The cause is unknown but may involve failed segmentation of cervical vertebrae in fetal development. Patients can experience neck pain, torticollis, scoliosis, or neurological issues. Diagnosis involves physical exam and imaging like x-rays or MRI. Treatment depends on symptoms but may include surgery for deformity, instability, or neurological problems. Physiotherapy can help prevent degenerative changes while surgery can relieve pain or nerve compression.
Waddling gait- definition|role of muscle|gait analysis|kinematic and spatiote...jasna ok
This powerpoint is about WADDLING GAIT,muscle that cause waddling gait , its causes, reasons for why this gait is called duck gait and pregnancy gait, gait analysis , and its physical therapy treatment
Waddling gait- definition|role of muscle|gait analysis|kinematic and spatiote...jasna ok
This powerpoint is about WADDLING GAIT,muscle that cause waddling gait , its causes, reasons for why this gait is called duck gait and pregnancy gait, gait analysis , and its physical therapy treatment
CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person's ability to control his or her muscles.
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Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
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Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
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Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
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Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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
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2. The Klippel-Feil syndrome is a congenital anatomical
defect in the neck, which includes fusion of two or
more cervical vertebrae.
Also described as congenital brevicollis syndrome.
Feil has classified this syndrome into 3 categories:
Type I = A massive fusion of the cervical spine
Type II = Fusion of 1 or 2 cervical vertebrae
Type III =Type I or II Klippel-Feil syndrome with thoracic
and lumbar spine anomalies
3. The KFS is caused by a failure of segmentation of the
cervical vertebrae during the early weeks of fetal
development.
There are several hypotheses concerning the origin of the
abnormality.
Like: primary vascular disruption, global fetal insult ,
primary neural tube anomaly, genetic predisposition and
at last facet joint segmentation failure.
It is also possible that the syndrome is the result of
maternal alcoholism, due to fetal alcohol syndrome.
4. These are just hypotheses.
What exactly causes this failure of
segmentation is up till now still unknown.
This syndrome is likely to have an incidence
between 0.5 - 0.7% of life births.
5. People with Klippel-Feil in general appear to have a
“short neck” with a low hairline due to the fusion of
several cervical vertebrae.
Together with this short neck, there are skin folds
passing to the shoulders, due to the fusion of the
cervical spine.
Because of the fusion there is also a decreased
mobility in the neck.
Particularly side-to-side movements and rotational
movements are difficult to execute.
6. Flexion and extension
movements are also limited,
but less severe.
This decreased range of
motion is the most frequent
clinical presentation.
Less than 50% of the patients
with Klippel-Feil syndrome
have all three of these signs.
7. It is possible that complications occur by injury of the
spinal cord.
Symptoms are numbness, paresthesia, spasticity or
paralysis.
These complication can occur in a person with Klippel-
Feil syndrome by a minor fall, stumble or knock.
This syndrome can also lead to chronic symptoms like
neck- and extremity pain, weakness, ataxia,
headaches, vision – or hearing problems and vertigo.
8. Patients with type II KFS are likely to have an
increased curvature develop of the spine in the
sagittal plane.
Patients with type I and III have a higher risk for
development of scoliosis.
Torticollis or facial asymmetry can occur in 21-50% of
the patients with KFS.
It is important to make a differential diagnosis
between congenital muscular torticollis and Klippel-
Feil syndrome.
9. To differentiate these two,
radiographic plains have to be made,
but in little children it is hard to do so,
especially of the craniocervical
junction.
Anomalies of the craniocervical
junction could cause instability at
lower segments.
10. Several studies showed that the syndrome can
present with other clinical symptoms.
These are the following:
Goldenhar syndrome,
anomalies of the extremities,
scoliosis, torticollis,
facial nerve paralysis,
Chiari I malformation, Syringohydromyelina,
High-arched palate and
Duane’s contracture of the lateral rectus muscle.
11. Between 30 and 60% of patients with KFS have
genito-urinary problems.
These problems are mainly situated at the level of
the kidneys.
These patients could have a unilateral renal
agenesis, mal-rotation of the kidney, ectopic kidney,
horseshoe kidney and renal pelvic and ureteral
duplication.
12. Besides kidney problems these patients can also
present with genital abnormalities.
Unilateral renal agenesis is the most common
anomaly among patients with KFS.
13. Wildervanck syndrome or cervico-oculo-acoustic
syndrome.
Patients with KFS can present with deafness, so it is important
to differentiate the KFS with the Wildervanck syndrome.
Congenital scoliosis - Numerous patients with KFS are
likely to have congenital scoliosis.
KFS is mostly discovered when patients undergo
radiography for scoliosis.
Postinfection/ spine inflammatory disorders due to
acquired spinal fusion.
14. Mayer-Rokitansky-Kaster-syndrome
Torticollis - It is important to make a differential diagnosis
between muscular congenital torticollis and KFS.
More than 20% of the patients with KFS present with
Torticollis.
Sprengel’s deformity - Exists in 16 % of patients with KFS,
but can also present without KFS. So it must be verified if a
patient with Sprengel’s deformity also presents with KFS.
15. Patients with KFS have a cervical deformation at birth, but
are usually diagnosed at later age.
Some patients are diagnosed while undergoing radiography
for other reasons related or even not related to this
syndrome.
This syndrome is usually diagnosed when the presentation of
complaints occur.
The most important complaints are pain and neurologic
symptoms.
16. Neurologic exams are designated when
neurologic symptoms appear.
In addition, Radiographic evaluation is
necessary to determine the diagnosis of KFS.
Spinal fusion can be documented by plain
films and CT-scans, only with combined
myelo-CT or rather a MRI.
17.
18. An MRI including flexion and extension MRI is
designated when complaints of instability and/or
spinal stenosis (LINK) appear.
Instability associated with an adjacent fused
segment can be tested with translation of the
vertebral corpus on another.
Pseudoluxation of C2 on C3 or C3 on C4 is a normal
phenomenon in children with KFS younger than the
age of 8 years.
19. MRI can give valuable information about the space
available for the spinal cord, determination of spinal
stenosis caused by the deformation, and CSN
abnormalities like; Syrinx, tethered cord, or
diastomyelia.
It is also used to determine if the cervical
malformation compresses the brain, brainstem or
the spinal cord.
20. The clinical presentation of KFS is varied because of
the different associated syndromes and anomalies
that can occur in patients with this syndrome.
In children in particular, the classic clinical triad of
manifestations (see Background) may not all be
present.
A complete history and careful physical examination
may reveal some associated anomalies. From an
orthopedic standpoint, most of the workup involves
imaging.
21. Klippel-Feil syndrome is
detected throughout life,
often as an incidental
finding.
Patients with upper cervical
spine involvement tend to
present at an earlier age than
those whose involvement is
lower in the cervical spine.
22. Most patients present with a short neck and decreased
cervical range of motion (ROM), with a low hairline
occurring in 40-50% of cases.
Decreased ROM is the most frequent clinical finding.
Rotational loss usually is more pronounced than is the loss
of flexion and extension.
Other patients present with torticollis or facial asymmetry.
In very young children, it is important to differentiate
congenital muscular torticollis from Klippel-Feil syndrome.
23. It is often difficult to obtain good plain radiographs
of young children with torticollis, especially
radiographs of the craniocervical junction.
Neurologic problems may develop in 20% of
patients. Gray found that 27% developed symptoms
in the first decade.
25. The most frequent indications for surgical treatment of
KFS depend on the amount of deformity, its location,
and its progression with time.
Other indications include instability of the cervical spine
and/or neurologic problems.
These indications can occur with craniocervical junction
anomalies and when two fused segments are separated
by a normal segment.
26. Some patients present early in life with
complex cervical and cervicothoracic
deformity that is progressive and disfiguring.
Some of these patients require cervical spine
fusions to prevent progression.
27. Other patients may develop compensatory or
associated congenital scoliosis, which also can be
progressive over time and requires fusion to prevent
progressive deformity.
Treatment of the scoliosis with bracing or surgery
was required in 18 of the 50 patients.
Surgical treatment of KFS is indicated in a variety of
situations.
28. As a result of fusion anomalies and the difference in
growth potential of the anomalous vertebral bodies,
deformity may be progressive.
Instability of the cervical spine can develop because of
craniocervical abnormalities.
Instability of the cervical spine can also develop
between two sets of fusion anomalies separated by a
normal segment.
Neurologic deficits and persistent pain are indications
for surgery.
29. Development of a compensatory curve in the thoracic
spine may require surgical intervention or bracing.
Symptomatic spinal stenosis may require
decompression and fusion.
Preoperatively, patients must have a comprehensive
workup to detect the various anomalies that may be
present.
Adequate imaging studies must be obtained.Three-
dimensional (3D) computed tomography (CT)
reconstruction often is useful.
30. KFS cannot be resolved with physiotherapy.
Nevertheless physiotherapy in combination with non-
steroidal medications could be useful to prevent
degenerative changes.
When a patient has several fused vertebrae like in
KFS, the risk of OA changes is increased because of
the immobile joint.
It is likely that the superior joint undergoes
degenerative changes with formation of osteophytes.
31. This can lead to Radiculopathy and/or myelopathy,
therefore the goal of physiotherapy is to prevent or
to delay this damage.
If physiotherapy does not work, surgical
management is necessary to relieve compression on
the nerve roots.