Neurodegenerative disorders can present with regression of developmental milestones or skills. It is important to determine if the regression is global, focal, or involves specific domains like language or motor skills. Making a correct diagnosis is important to guide treatment and management. Diagnostic workup may include blood tests, urine tests, imaging, and genetic testing depending on the suspected condition. Treatment aims to address the underlying cause if possible and control complications. Prognosis depends on the specific condition but neurodegenerative disorders often have no cure and are fatal.
Disorders of amino acid metabolism
Disorders of renal amino acid transport
Disorders of carbohydrate metabolism and transport
Carbohydrate-deficient protein syndromes
carbohydrate metabolism and transport
Disorders of fatty acid oxidation
Disorders of purine and pyrimidine metabolism
Disorders of lipid and lipoprotein metabolism
Ceroid lipofuscinosis and other lipidoses.
Disorders of serum lipoproteins
Lysosomal disorders
Peroxisomal disorders
Disorders of metal metabolism
Porphyrias
The presentation deals with rett syndrome, a neorological disorder of child hood. It gives an idea on the symptoms shown, the diagnostic procedures, and the treatment given
Disorders of amino acid metabolism
Disorders of renal amino acid transport
Disorders of carbohydrate metabolism and transport
Carbohydrate-deficient protein syndromes
carbohydrate metabolism and transport
Disorders of fatty acid oxidation
Disorders of purine and pyrimidine metabolism
Disorders of lipid and lipoprotein metabolism
Ceroid lipofuscinosis and other lipidoses.
Disorders of serum lipoproteins
Lysosomal disorders
Peroxisomal disorders
Disorders of metal metabolism
Porphyrias
The presentation deals with rett syndrome, a neorological disorder of child hood. It gives an idea on the symptoms shown, the diagnostic procedures, and the treatment given
PREMATURE AGING SYNDROMES AND THEIR CLINICAL MANIFESTATIONSDR. MOHNISH SEKAR
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increased risk to develop chronic ailments. Premature aging syndromes, also known as progeroid syndromes, recapitulate many clinical features of normal aging and offer a unique opportunity to elucidate fundamental mechanisms that contribute to human aging. Progeroid syndromes can be broadly classified into those caused by perturbations of the nuclear lamina, a meshwork of proteins located underneath the inner nuclear membrane (laminopathies); and a second group that is caused by mutations that directly impair DNA replication and repair.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
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Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
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
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
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
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
2. 3 situations
• Normal development & then regression
• Delayed development & then regression
• Episodic regression with stepwise
deterioration
3. 2nd
Question
• Is there delay or is there definitely
regression?
• Is it a pseudoregression or True
regression?
• Is it a static disorder or progressive
disorder?
4. 3rd
question
• If there is a true regression is it global
Regression or Focal Regression?
• Example- Global regression is seen in
Lysosomal storage disorders while
• Focal predominantly language-social regression
is seen in ASD
• Motor regression alone may be seen in Aquired
LMN disorders like DMD
• Motor regression may be the initial manifestation
in LeukoDystrophies also.
5. Isolated regression
• Language & social regression- Autistic
spectrum disorders
• Isolated language regression –
– Landau kloeffner syndrome
– Certain epilepsies
– Stroke involving language area
6. Isolated motor regression
• MYELOPATHIES
– Compressive-Spinal cord tumours
– Non compressive-Hereditary spastic paraparesis
• Infections of anterior horn cells- polio, West nile
• SIDP & MADSAM
• Genetic Ataxias-eg Fredericks , ATelengiectasia
• Early stage of Leukodystrophies
• Muscular dystrophies eg DMD
• Metabolic or endocrine myopathies eg GSD
•
7. Global Regression- cerebrum
involved
• Grey matter
• White matter
• Basal Ganglia
• Mitochondrial D
• Peroxisomal D
• PMEs- progressive myoclonic epilepsies
• IEMs- inborn errors of metabolism
8. • Pecuiliarity of IEMs is that they are small
molecule defects & may have different
types of presentations like-
– Episodic dysfunction/ acute encephalopathy
• - Step pattern deterioration or
– progressive deteriorartion
– When we talk of NDD we are predominantly
concerned with the large molecule group slow
neurodegeneration like NCL,LKD etc
11. Combined Grey + White- Rare
• Usually this pattern is produced by
• Mitochondrial
• Leighs D
• MELAS
• MERRF
• Peroxisomal disorders
• Zell weger
• Refsum disease
• Adreno leukoDystrophy
• Certain IEMs
• Methyl malonic acidemia
• Glutaric aciduria
• Urea cycle disorders etc
12. GM - presentations
• Seizures
• Myoclonus
• Dementia- intellect deterioration
• Aphasias – language dysfunction
• Academic deterioration
• Psycho behavioural disturbances
• Involuntary movements( Gm of BG)
• Apraxia- loss of learned motor skills or daily living skills
• Vision loss of retinal type
• Hypotonia , ataxia along with these above
• Spasticity & plantar abn are late if at all they occur.
13. WM- presentations
• Initially there may be a normal motor development or a
motor delay followed by regression
• Motor Clumsiness, Recurrent falls & walking difficulty are
usual
• Examn shows Spasticity , Ataxia weakness ,UMN
signs
• Later Visual dysfunction & neuropathic involvement
occur Hypotonic weakness with reduced reflexes
• Seizures & intellect deterioration are very late if at all
noticed
• Visual dysfunction may be presenting feature in
posteriorly beginning leukodystrophies like
AdrenoleukoD
14. Grey matter White matter
Dementia early Late
Seizure Early and prominent late
Psychological
Symptoms
May be present uncommon
Disturbance of tone
gait and reflexes
Uncommon and late prominent
Basal Ganglia present absent
15. Peripheral
Neuropathy
Not seen Seen in some case
Retinitis pigmentosa
with consecutive
optic atrophy
May or may not absent
Primary optic atrophy rare May be seen
Electroretinogram May be abnormal normal
Visual evoked
response And BERA
Usually normal abnormal
18. History
Till what age the child was normal
Type of onset
Any precipitating factor
Course of illness ; Usually later the first signs
appear, the slower the disease progresses
Videotapes and photographs of the child’s
appearance and performance at earlier ages
should be reviewed
19. History of present illness:
Onset/Age of onset
Fits ,Clumsiness or difficulty in gait
Deterioration of HMF
Ataxia or imbalance
Headache,Blindness,Vomiting, deafness
Change in personality and behaviour
Deteriorance in school performance
20. Below 2 years
• Failure to thrive, seizures, and inability to sit and stand at
1 year and to speak in short sentences at 2 years.
School-aged child
• regresses in language skills and withdraws socially
Older children and adolescents,
• gait difficulties
• and loss of vision and intellectual facilities
• .
21. • prenatal and perinatal histories are important, as they
help determine whether the disorder is congenital or
whether it began at some later time.
• development: feeding, sleep, motor milestones,
expressive and receptive language, behavior, social
attainment
Family History and mode of inheritance
previous affected siblings, even when the diagnosis
seems to be unrelated such as neonatal sepsis, sudden
infant death
Formulate a Diagnostic/Differential D hypothesis with
History itself & proceed to examn
History - otherHistory - other
22. Examination
• General Examination
• Head to foot Examination
• Anthropometry for FTT
• Developmental assessment
• Focussed Neurological examination
tailored to age & condition of child
• Other systems examination esp for
organomegaly , cardiomegaly etc
24. Macrocephaly
• Alexander disease
• Tay-Sachs disease
• Canavan disease
• Sandhoff’s disease
• Glutaricaciduria type I
Microcephaly
Grey matter D
Neuronal ceroid
lipofuscinoses
Krabbe s disease
Rett syndrome
25. Hurler phenotype
• Mucopolysaccharidoses
• Oligosacharidoses
• Mucolipidosis
• GM1 gangliosidosis
• I-cell disease
• Doll like phenotype
• Zellweger syndrome
• Von giercke D
• Menke s disease
56. Hurler phenotype ?
yes no
Urine screen for MPS Zellweger s
syndrome
Neonatal
adrenoleukodystrophy
+ _
Mucopolysaccharidosis Urine screen for
oligosaccharides
+ -
Manosidosis
57. Abnormalities of skin or hair
no yes
MRI reveling demyelination Menky
kinky hair disease
no yes Fabry
disease
Biotinidase deficiency
ocular pathology
Cockayne s syndrome
yes no sjogren
64. • Gray matter disease
Bone marrow for storage cells ;
Niemann pick - vacuolated foam cells
Gaucher disease- crumpled paper
appearance
Urine copper , serum ceruloplasmin
Hair microscope – Menke kinky
conjunctival , skin , rectal biopsy- NCL(fingerprint
bodies)
Enzyme analysis in leukocytes , skin fibroblast-
Lysosomal storage disease
Urine MPS and skeletal survey
Serum and CSF lactate and pyruvate for
65. • White matter disease
Aryl sulfates assay –MLD
VLCFA for Adrenoleukodystrophy
N Acetyl aspartic acid – canavan s disease
Galactocereamidase – Krabbe’s
66. • Directed towards the treatment of the
underlying disorder, other associated
features and complications
• Supportive :The treatable complications :
• feeding difficulties, Gastoresophageal reflux
• spasticity, drooling
• skeletal deformities, and recurrent chest infections
• epilepsy, sleep disorder, behavioral symptoms
• A multidisciplinary approach(pediatrics,
neurology, genetics, orthopedics, physiotherapy,
and occupational therapy.
67. Neurodegenerative
disorders
Specific treatment modality
Krabbe leukodystrophyKrabbe leukodystrophy Bone marrow transplantation
MetachromaticMetachromatic
leukodystrophyleukodystrophy
Bone marrow transplantation
AdrenoleukodystrophyAdrenoleukodystrophy Lorenzo s oil ;Glyceryl trioleate and
trierucate,steroids for adrenal
insufficiency, diet low in VLCFA, bone
marrow
transplantation
MucopolysaccharidosisMucopolysaccharidosis Bone marrow transplantation,
Enzyme replacement therapy
69. • A precise history confirms regression of
developmental milestones, and the
neurologic examination localizes the
process within the nervous system.
• Outcome of a neurodegenerative
condition is usually fatal and available
therapies are often limited in effect
• It is important to make the correct
70. • Onset of inherited disease can occur at
any age
• Bone marrow transplantation and other
novel therapies may prevent the
progression of disease in certain
presymptomatic individuals
71. • Nelson textbook of Pediatrics
• Fenichel Pediatric Neurology
• Approach to Neurodegenerative Disease
IJP 1990
• Veena Kalra Practical Pediatric Neurology