Autosomal dominant Diseases at a glance

Autosomal Dominant diseases at a glance

Autosomal dominant disorders are manifested in the heterozygous state ,so that at least one parent of an index case is usually affected ;both males and females are affected ,and both can transmit the condition .When an affected person marries an unaffected one ,every child has one chance in two of having diseases.,

In autosomal dominant diseases both sex are equally affected and risk remains the same for each successive pregnancy. 50% offspring’s are affected if one heterogygus parent and one unaffected parent. 75% offspring’s are affected if two heterogygus parents And 100^ offspring’s are affected if one homogygus affected parents.

Example: There are about 1500 autosomal dominant disorder,here some important are given

1.    Achondroplasia

2.    Adult polycystic kidney diseases

3.    Acute intermittent porphyria

4.    Ehelers-Danlos syndrome

5.    Erythropoitic protoporphyria

6.    Facio-scapulo-humeral muscular dystrophy

7.    Familial adenometous polyposis coli

8.    Familial hypercholesterolaemia

9.    Gardner’s syndrome

10.  Hepatic porphyrias

11.  Hereditary  haemorrhagic telangiectasia  (OslerWeber-Rendu Diseases)

12.  Hereditary sensory and motor neuropathy

13.  Hereditary spherocytosis

14.   Hutingtong chorea

15.  Hypertrophic obstructive cardiomyopathy

16.  Myotonic dystrophy / Distrophia myotonica

17.  Marfan’s syndrome

18.  Neurofibromatosis type 1 & 2

19.  Noonan syndrome

20.  Neurohypophysial Diabetes  incipidus

21.  Osteogenesis imperfecta

22.  Pseudo hypoparathyroidism

23.  Retinitis pigmentosa

24.  Retinoblastoma

25.  Tuberous sclerosis

26.  Von Hippel –Lindau disease

27.  Von Willebrand’s diseases etc.

Collected and concise only for postgraduate students, Pictures are collected from Google.

Some data are collected from Robbins and Cotran pathologic basis of disease (8th edition)

For more information please visit...
https://en.m.wikipedia.org/wiki/Category:Autosomal_dominant_disorders

http://www.gpnotebook.co.uk/simplepage.cfm?ID=1248526374

Microbial Infections associated with Autoimmune diseases at a glance

Autoimmune diseases are often multi-organ diseases if unknown etiology. Although we do not know exactly what causes autoimmune diseases but there is increasing evidence that in many patients of chronic infections particularly bacteria and viruses play a important role in these diseases along with genetic predisposition and immune dysfunction.

Here some infectious microbial agents associated with Autoimmune diseases

Diseases	Infectious agents
1.Rheumatic Fever	Streptococcus pyogenes
2.Rheumatic Arthritis	Ebstein Barr virus Hepatitis C virus Escherichia Coli Mycobacteria sp.
3.Reiter’s Syndrome	Chalamydia trachomatis Shigella spe.
4.Guillain-Barre Syndrome	Campylobacter jejuni Cytomegalo virus Ebstein Barr virus
5.Multiple sclerosis	Ebstein Barr virus Hepatitis B virus Human herpes virus-6 Influenza A virus Measles virus
6.Myocarditis	Coxsacki virus B3 Cytomegalo virus Chalamydia trachomatis
7.Mysthenia Gravis	Hepatitis C virus
8.Primary Billiary cirrhosis	Escherichia Coli (Bacteria)
9.Greave Diseases	Yersinia enterocolitica (Bacteria)
10.Lupus	Ebstein Barr virus
11.Mixed Cryoglobulinaemia	Hepatitis C virus
12.Type 1 Diabetes Mellitus	Coxsacki virus B4 Cytomegalo virus Mumps Rubella
13.Allergetic Encephalitis	Measles virus
14.Scleroderma	Cytomegalo virus
15.HTLV associated Myopathy	Human T cell leukemia virus (HTLV)
16.Lyme Arthritis	Borrelia bugdorferi

Of course, not everyone who gets these infections will developed an autoimmune disease, since it seems that in addition to the infection, some sort of genetic predisposition is involved in the development of such conditions .

Collected and concise only for postgraduate students .

Metabolic syndrome at a glance

       Now a days metabolic syndrome is also a very common and notorious condition as like Malignancy.About 32% population of USA suffering from these condition.Near about 60% obease have Metabolic syndrome where the healthy are only 2%.So preaventing metabolic syndrome really means having a healthy lifestyle......

for details about metabolic syndrome easily please visite...

http://www.medicinenet.com/script/main/mobileart.asp?articlekey=46853



collected and concise only for postgraduate students.

Pharyngeal Pouches Derivatives at a glance

Mesenchyme for formation of the head region is derived from paraxial mesoderm and lateral plate mesoderm, neural creast and thickened region of ectoderm known as ectodermal placodes.

The most typical feature in development of the hea and neck is formed by the pharyngeal or branchial arches.These arches appear in the fourth and fifth weeks of development and contribute to the characteristic external appearance of the embryo.Initialy they consist of bars of mesenchymal tissue separated by deep cleafts known as pharyngeal ( branchial ) cleft.Simultaneously ,with development of the arches and clefts ,a number of outpocketing ,the pharyngeal gut ,the pharyngeal pouch,appears along the lateral walls of the pharyngeal gut,the most cranial part of the foregut.

The pouch penetrate the surrounding the mesenchyme, but do not establish an open communication with the external clefts. Therefore the term pharyngeal (arch, cleft, and pouch) has been adopted for the human embryo.

The human embryo has five pairs of pharyngeal pouches . The last one of these is atypical and considered as a part of the fourth. Since the epithelial endoderm lining of the pouch gives rise to a number of important organs. the fate of each pouch is given bellow :

Structures developed from pharyngeal pouch

Pouch	Derivatives
1st  pouch	1.       Middle ear cavity(primitive tympanic) 2.      Auditory tube ( from tuubotympanic recess) 3.       Endodermal lining of tympanic membrane
2nd pouch	1.       Palatine tonsil
3rd pouch	1.       Inferior parathyroid gland 2.      Thymus
4th pouch	1.       Superior parathyroid gland 2.      Lateral thyroid element
5th pouch	1.       Ultimobranchial body which later forms the parafollicular cells or C cell of thyroid gland

For more,please visit

* https://en.wikipedia.org/wiki/Pharyngeal_pouch_(embryology)

* https://www.youtube.com/watch?v=tsa4uZRKbu8

*Data are collected and concise only for post graduate student. Pictures are  collected from Google.

*Data are collected from Langman's Medical Embryology

ECG changes in hypokalamia at a glance

Please visit
http://lifeinthefastlane.com/ecg-library/basics/hypokalaemia

ECG changes in hyperkalamia at a glance

Please visit
http://lifeinthefastlane.com/ecg-library/basics/hyperkalaemia

Autosoml Recessive diseases at a glance

       Some important and common autosomal recessive diseases are:

• 1.       Blood or RBC related (Haemoglobinopathies ):

a.       Sickle cell anaemia

b.      Thalassaemia

• 2.       Lungs related :

a.       Cystic fibrosis

b.      α  1 antitrypsin deficiency

• 3.       Ataxia related :

a.       Friedreich ataxia

b.      Wilson’s ataxia

• 4.       Atrophy related :

a.       Neurogenic mascular atrophy

b.      Spinal muscular atrophy

• 5.       Urea (only name)related:

a.       Phenylketonuria

b.      Alkaptonuria

c.       Homocystenuria

• 6.       Storage diseases related :

a.       Glycogen storage diseases

b.      Lysosomal storage diseases

• 7.       Congenital related :

a.       Congenital adrenal hyperplasia

b.      Congenital erythropoietic porphyria

• 8.       Others related :

a.       Infantile polycystic kidney diseases

b.      Haemochromatosis

c.       Albinism

(Just for easy memories)

Collected and concise only for post graduate students,Pictures are collected from Google.

for more,please visit 

1. http://www.buzzle.com/articles/genetic-diseases-list-disorders.html#autosomal-recessive-single-gene-disorders

2. http://www.medicinenet.com/script/main/mobileart.asp?articlekey=15971&page=3

Cloaca derivatives at a glance

Primative gut derivatives at a glance

A .Foregut:

                                                A.1.Primative pharynx: 

                                a.Pharyngeal pouch- Thymus ,Middle ear ,Paratahyroid gland, Ultimobranachial                                                                  body

                                b.Epithelial component –Posterior region of buccal cavity ,

                                                              Submandibular, Sublingual, Thyroid glands, Tongue,  most                                                            of the Pharynx, Larynx, Trachea, Lung.

                                A.2.Epithelial components – of Oesophagus ,Stomach,Liver,Pancreas,upper part                                                        of duodenumup to ampula of vatter.

                B.Midgut:            Epithelial component and glands of lower part of duodenum (below                                               ampulla of Vater), Small gut, large gut up to right 2/3^rd of transverse                                                  colon

                C.Hindgut:           Epithelial components of Large gut from left 1/3^rd of transverse colon                                          upto Middle transverse fold of rectum

(Endoderm) Germ layer derivatives at a glance

1. Primative gut

2 . Yolksac

1 .Primative guts derivatives:

                                A .Foregut:

                                                A.1.Primative pharynx: 

                                a.Pharyngeal pouch- Thymus ,Middle ear ,Paratahyroid gland, Ultimobranachial                                                               body

                                b.Epithelial component –Posterior region of buccal cavity ,

                                                              Submandibular, Sublingual, Thyroid glands, Tongue,  most                                                               of the Pharynx, Larynx, Trachea, Lung.

                                A.2.Epithelial components – of Oesophagus ,Stomach,Liver,Pancreas,upper part                                                               of duodenumup to ampula of vatter.

                B.Midgut:   Epithelial component and glands of lower part of duodenum (below                                       ampulla of Vater), Small gut, large gut up to right 2/3^rd of transverse colon

                

                C.Hindgut:  Epithelial components of Large gut from left 1/3^rd of transverse colon upto

                    Middle transverse fold of rectum

2. Yolksac :

                                A.Cloaca:

                                B .Premordial germ cell:

A.Cloaca ;

          B. Premordial germ cell:

           1. Spermatozoa

           2 .Ovum

Collected and concise only for post graduate students,Pictures are collected from Google.

Surface Ectoderm derivatives at a glance

Surface Ectoderm derivatives:

Divided into

1.       Epidermis

2.       Placode

3.       Stomstodaeum

4.       Proctodium

1. Epidermis derivatives:

·         Mammary gland

·         Nail

·         Hair follicle

·         Sebaceous gland (cutaneous gland )

·         Sweat gland (cutaneous gland )

2. Placode derivatives:

·         Olfactory placode – form Olfactory epithelium

·         Otic placode – form inner ear

·         Lens placode –Form’s lens

3. Stomatodium derivatives:

·         Epithelium of nasal cavity

·         Epithelium of vestibule ,gum, hard palate

·         Enamel of teeth

·         Parotid gland

·         Rathke’s pouch

4. Proctodium derivatives:

·         Lower part of anal canal.

·         Epithelium and glands

Neural tube derivatives at a glance

Neural tube derivatives –

·         Brain

·         Spinal cord

·         Neurons of motor nerves

·         Retina and optic nerve and musculature of iris

·         Pineal gland

·         Pituitary gland ( neurohypophysis-posterior lobe and stalk )

·         Neuralgia

§  Ependymal cells

§  Macroglia

a.Atrocyte

b.Oligodendrocyte

Neural Crest derivatives at a glance

Neural Crest derivatives

·         Connective tissue and bones of the face and skull

·         Cranial nerve ganglia

(ciliary  for oculomotor nerve;

Trigeminal ganglia for trigeminal nerve;

superior,inferior,sphenoidal,submandibular for facial nerve ;

 Acoustic and vestibular for vestibulocochlear nerve;

Superior,inferior,otic for glossopharyngeal nerve;

Superior,inferior vagal parasympathetic ganglion for vagus nerve )

·         C cell of thyroid gland

·         Conotruncal septum in the heart

·         Odontoblast

·         Dermise in face and neck

·         Dorsal root ganglia

·         Sympathetic chain & paraaortic ganglia

·         Parasympathetic ganglian ofGIT

·         Adrenal medulla

·         Schwann cell

·         Glial cell

·         Leptomeninges (Arachnoid and pia mater )

·         Melanocytes

·         Branchial cartilage

·         Uveal tract

Collected and concise for postgraduate student only