The document provides an overview of several neurocutaneous syndromes from a pediatric perspective. It discusses the defining features and management of neurofibromatosis types 1 and 2, tuberous sclerosis complex, and Sturge-Weber syndrome. Key points include: neurofibromatosis type 1 is characterized by café-au-lait spots and neurofibromas; neurofibromatosis type 2 features tumors of the cranial and spinal nerves; tuberous sclerosis complex causes non-cancerous tumors in many organs and features epilepsy and intellectual disability; and Sturge-Weber syndrome is identified by a port-wine stain on the face and glaucoma of the ipsilateral eye. Close multidisciplinary monitoring
Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.
Neurofibroma - A neurofibroma is a type of nerve tumor that forms soft bumps on or under the skin.
It occurs in approximately 1 in 4,000 births
It is a genetic disorder that can affect the brain, spinal cord, nerves and skin
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
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
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Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
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.
- 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
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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
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
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These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
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
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
2. INTRODUCTION
• The neurocutaneous syndromes include a heterogeneous group
of disorders characterized by abnormalities of both the
integument and central nervous system (CNS).
• Most disorders are familial and believed to arise from a defect in
differentiation of the primitive ectoderm.
3. Disorders classified as neurocutaneous syndromes
include :
• Neurofibromatosis
• Tuberous sclerosis
• Sturge Weber syndrome
• von Hippel – Lindau disease
• PHACE syndrome,
• Ataxia telangiectasia
• Linear nevus syndrome,
• Hypomelanosis of Ito,
• Incontinentia pigmenti.
4. Neurofibromatoses
• Neurofibromatoses are autosomal dominant disorders that cause
tumors to grow on nerves (Neurofibromas) and result in other
abnormalities such as skin changes and bone deformities.
• 2 types of neurofibromatosis (type 1 and type 2);
• However, it is recognized that they are clinically and genetically
distinct diseases and should be considered separate entities:
neurofibromatosis 1 (NF-1) and neurofibromatosis 2 (NF-2).
5. Neurofibroma
• A benign nerve sheath tumor in the peripheral nervous system
• Arise from nonmyelinating-type Schwann cells that exhibit
biallelic inactivation of the NF1 gene that codes for the protein
Neurofibromin.
• Neurofibromin is responsible for regulating the RAS-mediated cell
growth signaling pathway.
• In contrast to Schwannomas, many additional types of cells and
structural elements are incorporated in addition to Schwann cells.
6. Types of Neurofibroma
• Dermal(Cutaneous) and Plexiform
1. Dermal or Cutaneous :
• Associated with a single peripheral nerve
• 3 subtypes
• Discrete cutaneous –
• Sessile/pedunculated
• Fleshy
• Nontender
• Discrete subcutaneous
• Bumps on the skin
• Sometimes tender
• Deep nodular
• Involves tissues and organs underneath the dermis
• Otherwise resembling Cutaneous and Subcutaneous types.
7. • Age of onset :
• Teenage years
• Onset of puberty
• Increase in number and size throughout adulthood
• Complications :
• Stinging
• Itching
• Pain
• Disfiguration
• No evidence of malignant transformation
8. 2. Plexiform :
• Can grow from nerves in the skin or from internal nerve bundles
• Can be very large
• Internal plexiform neurofibromas extend through multiple layers of
tissues and are difficult to remove.
• Complications
• Disfigurement
• Neurological and other clinical deficits
• 10% undergo transformation into a Malignant Peripheral Nerve Sheath
Tumor (MPNST).
9. NF - 1
• Most prevalent Neurocutaneous syndrome.
• Incidence 1/3,000
• Autosomal Dominant
• Majority of mutations in NF-1 occur in paternal germ line
• Though , NF-1 is an autosomal dominant disorder, over half the
cases are sporadic, representing de novo mutations.
• The NF1 gene on chromosome region 17q11.2 encodes a protein
also known as neurofibromin. Neurofibromin acts as an inhibitor
of the oncogene ras.
10. Diagnostic Criteria
• 2 out of the following 7 signs :
1. Six or more café-au-lait macules over 5 mm in greatest
diameter in prepubertal individuals and over 15 mm in
greatest diameter in postpubertal individuals.
2. Axillary or inguinal freckling
3. Two or more iris Lisch nodules
4. Two or more neurofibromas or one plexiform
neurofibroma
11. Diagnostic Criteria (continued)
5. A distinctive osseous lesion such as Sphenoid dysplasia(
which may cause pulsating exophthalmos) Or Cortical
thinning of long bones with or without Pseudoarthrosis.
6. Optic gliomas
7. A first-degree relative with NF-1 whose diagnosis was
based on aforementioned criteria.
12. Neurofibromas
• Neurofibromas typically involve the skin, but they may be situated
along peripheral nerves and blood vessels and within viscera
including the gastrointestinal tract.
• These lesions appear characteristically during adolescence or
pregnancy, suggesting a hormonal influence.
• They are usually small, rubbery lesions with a slight purplish
discoloration of the overlying skin.
13. • Plexiform neurofibromas are usually evident at birth and result
from diffuse thickening of nerve trunks that are frequently located
in the orbital or temporal region of the face.
• The skin overlying a plexiform neurofi broma may be
hyperpigmented to a greater degree than a caf é -au-lait spot.
• Plexiform neurofibromas may produce overgrowth of an
extremity and a deformity of the corresponding bone.
15. Café-au-lait spots
• Café-au-lait spots are the hallmark of neurofibromatosis
• Present in almost 100% of patients.
• Present at birth but increase in size, number and pigmentation,
especially during the 1st few years of life.
• Predilection for trunk and extremities.
• Facial sparing
16.
17. Other conditions with Café-au-lait
macules
• Neurofibromatosis type 2
• Macune albright Syndrome
• Ataxia telangiectasia
• Bloom’s syndrome
• Watsons’s syndrome
• Familial Café-au-lait macules
18. Other findings in NF-1
• Learning disabilities
• Attention deficit disorders
• Behavioral and psychosocial problems
• Abnormalities of speech
• Seizures – Complex partial and GTCS
19. Other findings (continued)
• Hydrocephalus secondary to aqueductal stenosis
• Macrocephaly with normal-sized ventricles
• Cerebral vessel aneurysms, or stenosis resulting in Moyamoya
disease > Transient Ischemic Attacks
• Precocious puberty
• Risk of hypertension due to Renal Vascular Stenosis or a
Pheochromocytoma
20. Other findings (continued)
• Higher incidence of Pheochromocytoma ,
rhabdomyosarcoma,Leukemia and Wilm’s tumor
• Unusual associations involving Myleoid leukemia, Juvenile
xanthogranuloma, and NF-1
• Malignant Peripheral Nerve Sheath Tumor (MPNST)
• Malignant neoplasms
• Neurofibrosarcoma
• Malignant schwannomas
21. Other findings (continued)
• Tumors of the CNS account for significant morbidity and mortality
• Optic gliomas
• Meningiomas of the brain and spinal cord
• Neurofibromas
• Astrocytomas
• Neurilemmoma
22. NF-2
• Rarer condition
• Incidence – 1/25,000
• The NF2 gene (also known as merlin or schwannomin) is located
on chromosome 22q1.11.
23. Diagnostic criteria for NF-2 :
• 1 of the following 4 features is present:
1. Bilateral vestibular schwannomas
2. A parent, sibling, or child with NF-2 and either unilateral vestibular
schwannoma or any 2 of the following: meningioma,
schwannoma, glioma, neurofibroma, or posterior subcapsular
lenticular opacities
3. Unilateral vestibular schwannoma and any 2 of the following:
meningioma, schwannoma, glioma, neurofi broma, or posterior
subcapsular lenticular opacities
4. Multiple meningiomas (2 or more) and unilateral vestibular
schwannoma or any 2 of the following: schwannoma, glioma,
neurofibroma, or cataract.
27. • Close multidisciplinary follow-up is necessary
• Regular clinical assessments at least yearly, focusing the history
and examination on the potential problems for which they are at
increased risk.
• Yearly ophthalmologic examination,
• Neurologic assessment,
• Blood pressure monitoring,
• Scoliosis evaluation
28. • Neuropsychologic and educational testing should be considered
as needed.
• All symptomatic cases (i.e., those with visual disturbance,
proptosis , or increased intracranial pressure) must be studied
without delay.
• Cosmetic interventions
29. Genetic Counseling
• Molecular testing for the NF1 gene is available and can be useful
in a number of cases.
• Scenarios in which genetic testing is helpful include
• patients who have only 1 of the criteria for clinical diagnosis,
• those with unusually severe disease, and
• those seeking prenatal/pre-implantation diagnosis.
30. Tuberous Sclerosis
• Autosomal dominant
• Widespread hamartomas – Brain, eyes, skin, kidneys, liver, heart
and lungs.
• Clinical triad
• Described by Vogt
• Epi-loi-a
• Epilepsy
• Low intelligence
• Adenoma sebaceum
• Only in 1/3rd patients
31.
32. • Clinical features
• May present as Infantile spasms and a hypsarrythmic EEG pattern
• Later may develop into myoclonic epilepsy
• Skin lesions
• Ash leaf macules
• Sebaceous adenomas
• Shagreen patch
• Subungual or Periungual fibromas
35. • Retinal lesions
• Mulberry tumors
• Hamartomas
• Depigmented areas
• Brain lesion
• Cortical tuber – apparent by 3-4 years of age
• Identified by T2 weighted MRI
• Undergo calcification and project into ventricular cavity – Candle-dripping
appearance
• Obstructive hydrocephalus
• Number of tubers is directly related to degree of neurological impairment.
• Occasionaly differentiates into a malignant Subependymal giant cell
astrocytoma
36. CT scan
with subependymal calcifi cations characteristic
of tuberous sclerosis.
MRI demonstrates
multiple subependymal nodules in the same
patient
(arrow).
37. • Other features
• Rhabdomyomas of the heart
• In 50 % cases
• At the apex of the left ventricle
• Can cause Congestive Heart Failure and Arrythmias
• Slowly resolve spontaneously
• Angiomyolipomas of kidney
• In 75-80 % of >10 year old patients
• Benign
• Single or multiple renal cysts
• Lymphangiomyomatosis
• Classical pulmonary lesion
• Most common in female patients
38. • Management
• Seizure control
• Renal imaging every 1-3 year
• Echocardiogram
• Chest roentgenogram
• Brain MRI every 1-3 year
• Neurodevelopmental testing at the time of beginning 1st grade.
39. Sturge-Weber Syndrome
• Sporadic disorder
• Results from anomalous development of the primordial vascular
bed in the early stages of cerebral vascularisation
• As a result, brain becomes atrophic and calcified, particularly in
the molecular layer of the cortex.
• Clinical manifestations
• Facial capillary malformation – Port-wine stain
• Unilateral facial nevus
• Present at birth
• Always involves the upper face and eyelid
40. • Buphthalmos and glaucoma of the ipsilateral eye
• Seizures in the 1st year of life in most patients.
• Typically focal tonic-clonic and contralateral to the side of nevus.
• Transient stroke like episodes and persisting visual defects
• Neurodevelopment appears to be normal in the 1st year of life
• Mental retardation or severe learning disabilities in at least 50% in
later childhood
41. DIAGNOSIS
• MRI with contrast is the imaging modality of choice for
demonstrating leptomeningeal angioma
• Skull radiograph
• Intracranial calcification in the occipitoparietal region
• Serpentine or Railroad-track appearance
• CT scan
• Calcification
• Unilateral cortical atrophy
• Ipsilateral dilatation of the lateral ventricle
• MRI
• Vascular malformation
• White matter lesion
42. Gadolinium-enhanced
axial T1 FLAIR image of a
15 mo old with
Sturge-Weber syndrome
shows leptomeningeal
enhancement in the left
hemisphere.
43. VonHippel-LindauDisease
• Autosomal dominant trait
• VHL tumor suppressor gene located on 3p25-26
• Clinical Features
• Cerebellar hemangioblastoma –
• Present with signs of raised Intracranial Tension
• Total surgical removal is curative
• Retinal angiomata
• In peripheral retina – so unaffected vision
• Retinal detachment -> Visual loss
44. • Hemangioblastoma of the spinal cord –
• Abnormalities of proprioception and gait
• Bladder sysfunction
• Cystic lesions of the kidneys, pancreas,liver, and epididymis
• Pheochromocytoma
• Most common cause of death – Renal carcinoma
• Management
• Regular follow-up
• Appropriate imaging studies to identify lesions at an early stage
45. PHACE Syndrome
• Female predominance
• Consists of
• Posterior fossa malformation
• Hemangiomas ipsilateral to the aortic arch
• Arterial anomalies
• Coarctation of the aorta,apalsia or hypoplastia of carotid
arteries,aneurysmal carotid dilatation, aberrant left subclavian
artery
• Eye abnormalities- glaucoma, cataracts, microphthalmia, optic
nerve hypoplasia.
46. • Large facial hemangiomas may be associated with Dandy- Walker
malformation
• Interferon- alpha is of value in management of the hemangiomas.
47. Ataxia Telangiectasia
• Autosomal recessive
• Chromosome 11
• Ataxia begins between 12-15 months of age
• Telangiectasia appears by 2-7 years on bulbar conjunctiva and skin
• Abnormal movements
• Vitilago
• Abnormal Glucose Tolerance Test
49. Incontinentia Pigmenti
• Uncommon genodermatosis of the developing neuroectoderm
• Vesicular, verrucous and pigmented lesions are associated with
developmental defects of eyes, skeletal system and central
nervous system.
• X-linked dominant disorder
• Mutisystem disorder
• Skin - Alopecia
• Neurological – motor and cognitive developmental retardation,
seizures, microcephaly,spasticity and paralysis
• Skeletal
• Ocular- neovascularization, microphthalmos, strabismus,optic nerve
atrophy, cataracts, and retrolenticular masses,
• Dental – Late dentition, impaction, hypodontia.
50. • Manifest at birth or during first few weeks of life
• 4 stages in the skin –
• 1. Linear whorled vesicular eruptions along Blaschko’s lines. Acral
locations. Peripheral leucocytosis and eosinophilia
• 2. After 2-6 weeks, vesicular eruptions replaced by verrucous or
lichenoid lesions in 30% of the patients.
• 3.Between 12th and 20th week and characterised by
hyperpigmented lesions.
• 4.Fading of lesions leaving behind hypopigmented macules along
the Blaschko’s lines.