Congenital hydrocephalus

lPatient 3 years girl,

lBorn of non consanginoous marriage, 1st by birth order

lComplaints

l        Large growing head since birth

l        Headache

l        Unable to sit crawl stand  hold neck

lDevelopmental history

l      Marked gross motor delay.

l      Developmental index<15%(5/36x100)>

l      Fine motor,language,social developmental history normal. 

Clinical findings

lLarge head with head circumference of 77cms.

lLateral rectus palsy in left eye.

lDownward gaze.

Anterior fontanelle not closed and pulsatile.

Pressure sores over the posterior aspect of scalp. 

l

l

Hemangioma

Patient has presented with reddish swelling in left cheek since childhood which is gradually in increasing in size.there is history of raise in temperature at the site. 

EXAMINATION

Inspection:- greyishbrown pappule is present over left cheek in front of tragus extending to angle of mandible.Edges are not clearly made out.No punctum.

Palpation:-size:-21/2x2 inches

 extent:- from lateral canthus of eye to angle of mandible and from tragus to nasolabial fold. 

soft in consistency. 

Investigation:-On doppler ultrasound examination swelling is found to be have increased blood flow. 

Tuberous sclerosis

Patient of age 20 years has presented to dermatologist with swellings around alae of nose and temporal aspect of scalp which are insidious in onset gradually increasing in number and there is no h/o pain,trauma,altered sensorium itching,discharge, from those swelling.

Patient had generallised tonic clonic convulsions since two yrs of age.

He had been on anti-convulsants,since then he had been seizure free since 2years.

On examination

Adenoma sebaceum
Cutaneous angiofibroma
Shagreen patches 

with nodules

Subungual fibrosis
Cutaneous angiofibroma

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. 

Features-

1HeadFacial angiofibromas or forehead plaqueInfant – adult

2Fingers and toesNontraumatic ungual or periungual fibromaAdolescent – adult

3SkinHypomelanotic maculesInfant – childMore than three.

4SkinShagreen patch (connective tissue nevus)Child

5BrainCortical tuberFetus

6BrainSubependymal noduleChild – adolescent

7BrainSubependymal giant cell astrocytomaChild – adolescent

8EyesMultiple retinal nodular hamartomasInfant

9HeartCardiac rhabdomyomaFetusSingle or multiple.

10LungsLymphangiomyomatosisAdolescent – adult

11KidneysRenal angiomyolipomaChild – adult

Treatment of stem cells

•Treatments

•Main article: Stem cell treatments

•

Medical researchers believe that stem cell therapy has the potential to dramatically change the treatment of human disease. A number of adult stem cell therapies already exist, particularly bone marrow transplants that are used to treat leukemia.[27] In the future, medical researchers anticipate being able to use technologies derived from stem cell research to treat a wider variety of diseases including cancer, Parkinson's disease, spinal cord injuries, Amyotrophic lateral sclerosis and muscle damage, amongst a number of other impairments and conditions.[28][29] 1908 - The term "stem cell" was proposed for scientific use by the Russian histologist Alexander Maksimov (1874-1928) at congress of hematologic society in Berlin. It postulated existence of haematopoietic stem cells. 1998 - James Thomson and coworkers derive the first human embryonic stem cell line at the University of Wisconsin-Madison.

•2000s - Several reports of adult stem cell plasticity are published.

•

2003 - Dr. Songtao Shi of NIH discovers new source of adult stem cells in children's primary teeth.[33] October 2006 - Scientists at Newcastle University in England create the first ever artificial liver cells using umbilical cord blood stem cells.[34] January 2007 - Scientists at Wake Forest University led by Dr. Anthony Atala and Harvard University report discovery of a new type of stem cell in amniotic fluid.[5] This may potentially provide an alternative to embryonic stem cell research and therapy.[36]

•

In adult organisms, stem cells and progenitor cells act as a repair system for the body, replenishing specialized cells, but also maintain the normal turnover of regenerative organs, such as blood, skin or intestinal tissues.

Adult stem cells

•

Adult stem cells are undifferentiated cells found throughout the body after embryonic development that divide to replenish dying cells and regenerate damaged tissues. Also known as somatic (from Greek Σωματικóς, of the body) stem cells, they can be found in children, as well as adults.

•3] 

Adult stem cells, similar to embryonic stem cells, have the ability to differentiate into more than one cell type, but unlike embryonic stem cells they are often restricted to certain lineages. The ability of a stem cell of one lineage to become another lineage is called transdifferentiation. Pluripotent stem cells can be found in a number of tissues including umbilical cord blood.[7] Using genetic reprogramming, pluripotent stem cells equivalent to embryonic stem cells have been derived from human adult skin tissue.

Types-

Adipose derived stem cells

Mammary stem cells

Mesenchymal stem cells

Neural stem cells

Olfactory adult stem cells

Testicular stem cells

Dental pulp derived stem cells

Heamatopoietic stem cells

Embryonic stem cells

Embryonic stem cell lines (ES cell lines) are cultures of cells derived from the epiblast tissue of the inner cell mass (ICM) of a blastocyst or earlier morula stage embryos.[6] A blastocyst is an early stage embryo—approximately four to five days old in humans and consisting of 50–150 cells. ES cells are pluripotent and give rise during development to all derivatives of the three primary germ layers: ectoderm, endoderm and mesoderm. In other words, they can develop into each of the more than 200 cell types of the adult body ls) In other words, they can develop into each of the more than 200 cell types of the adult body when given sufficient and necessary stimulation for a specific cell type. They do not contribute to the extr Adult stem cells.

Stem cell division and differentiation. A - stem cell; B - progenitor cell; C -differentiated cell; 1 - symmetric stem cell division; 2 - asymmetric stem cell division; 3 - progenitor division; 4 - terminal differentiation.

•

Roots and branches of stem cells

•

•How do adult stem cells arise? Are they residual embryonic stem cells? If so, what has stopped them differentiating: why are they still stem cells when most cells have differentiated?

•Are stem cells found in different tissues fundamentally distinct, or is there a universal adult stem cell? Stem cells derived from different adult tissue can have remarkably similar properties. Research on adult stem cells has revealed that they can be induced to produce cell types of a variety of tissues. Do some or all adult stem cells belong to a single lineage but behave differently depending on extracellular cues?

•

Which adult tissues harbor stem cells? Do tissues that apparently contain no stem cells rely on other sources of new cells, or is it a matter of time until stem cells are identified there?

•

What molecular factors enable stem cell plasticity? While a lot is known about the cellular qualities that accompany multi- and pluripotency, the molecular/genetic factors that determine these qualities remain unclear. 

Could knowledge of these mechanisms allow us to reverse the process of differenti and restore embryonic stem cell properties in adult stem cells or even differentiated cells?

 

•

•

duchenne's muscular dystrophy

Sai 8yrs male ,

Born of non consaignvinous marriage, second by birth order.

Complaints-

       Weekness of lower limbs.

        Difficulty in getting up from floor, running.

       Frequent falling down while walking.

       Swelling of calf muscles in both limbs.

No pains

History of exanthematous fever which was treated before the onset of these symptoms.

Family history-

      Not significant

Immunization-

      Immunized according to schedule.

Examination-

      Enlarged bilateral  non tender calf muscles.

      Gowers sign positive.

      Normal tendon reflexes.

Investigations-

       Creatinine phosphokinase---3000u/l