Creation at its finest

Photo

Wed, 01 May 2013 22:11:32 +0800

marruin: Trisomy 13.

Mon, 22 Apr 2013 21:49:20 +0800

marruin:

Trisomy 13.

scinerds: Multiple Genes Robustly Contribute to Schizophrenia...

Thu, 11 Apr 2013 13:47:53 +0800

scinerds:

Multiple Genes Robustly Contribute to Schizophrenia Risk in Replication Study

Multiple genes contribute to risk for schizophrenia and appear to function in pathways related to transmission of signals in the brain and immunity, according to an international study led by Virginia Commonwealth University School of Pharmacy researchers.

By better understanding the molecular and biological mechanisms involved with schizophrenia, scientists hope to use this new genetic information to one day develop and design drugs that are more efficacious and have fewer side effects.

In a study published online in the April issue of JAMA Psychiatry, the JAMA Network journal, researchers used a comprehensive and unique approach to robustly identify genes and biological processes conferring risk for schizophrenia.

The researchers first used 21,953 subjects to examine over a million genetic markers. They then systematically collected results from other kinds of biological schizophrenia studies and combined all these results using a novel data integration approach.

The most promising genetic markers were tested again in a large collection of families with schizophrenia patients, a design that avoids pitfalls that have plagued genetic studies of schizophrenia in the past. The genes they identified after this comprehensive approach were found to have involvement in brain function, nerve cell development and immune response.

“Now that we have genes that are robustly associated with schizophrenia, we can begin to design much more specific experiments to understand how disruption of these genes may affect brain development and function,” said principal investigator Edwin van den Oord, Ph.D., professor and director of the Center for Biomarker Research and Personalized Medicine in the Department of Pharmacotherapy and Outcomes Science at the VCU School of Pharmacy.

“Also, some of these genes provide excellent targets for the development of new drugs,” he said.

One specific laboratory experiment currently underway at VCU to better understand the function of one of these genes, TCF4, is being led by Joseph McClay, Ph.D., a co-author on the study and assistant professor and laboratory director in the VCU Center for Biomarker Research and Personalized Medicine. TCF4 works by switching on other genes in the brain. McClay and colleagues are conducting a National Institutes of Health-funded study to determine all genes that are under the control of TCF4. By mapping the entire network, they aim to better understand how disruptions to TCF4 increase risk for schizophrenia.

“Our results also suggest that the novel data integration approach used in this study is a promising tool that potentially can be of great value in studies of a large variety of complex genetic disorders,” said lead author Karolina A. Aberg, Ph.D., research assistant professor and laboratory co-director of the Center for Biomarker Research and Personalized Medicine in the VCU School of Pharmacy.

ramirezbundydahmer: A very rare skin disorder,...

Thu, 11 Apr 2013 13:46:45 +0800

ramirezbundydahmer:

A very rare skin disorder, Epidermodysplasia verruciformis is characterized by a susceptibility to human papilloma virus, and the growth of horrifying tree-bark-like warts over the body. The world at large first heard about this dreadful disease in 2007, when the case of Dede Koswara showed up on the internet with a similar disease. Dede was featured on shows on both Discovery and The Learning Channel. He has since undergone multiple surgeries to remove his warts, with pounds of them hacked off at a time. Unfortunately, the warts of both diseases are very aggressive, and grow back immediately. It is estimated that Dede will need at least two surgeries a year to maintain a reasonably normal appearance.

deformed-babies: Boomerang dysplasia. Boomerang dysplasia is a...

Tue, 09 Apr 2013 22:11:06 +0800

deformed-babies:

Boomerang dysplasia.

Boomerang dysplasia is a very rare perinatally lethal skeletal abnormality characterized by decreased formation of cranium and vertebral bodies, incomplete or absent formation of long bones that are characteristically curved to give this condition its name. Vertebral formation defects are most commonly found in the thoracic region, giving the appearance of an “hour glass” shape with wavy ribs.

deformed-babies: Holt-Oram syndrome.

Fri, 05 Apr 2013 11:35:42 +0800

deformed-babies:

Holt-Oram syndrome.

Photo

Thu, 04 Apr 2013 20:33:27 +0800

aelur: Human and animal mutations in Chernobyl

Tue, 02 Apr 2013 13:23:28 +0800

aelur:

Human and animal mutations in Chernobyl

deformed-babies: Acardiac twin [L] and normal (pump) twin [R].

Mon, 01 Apr 2013 17:29:07 +0800

deformed-babies:

Acardiac twin [L] and normal (pump) twin [R].

malformalady: A polydactyl cat is a cat with a congenital...

Sat, 30 Mar 2013 11:27:27 +0800

malformalady:

A polydactyl cat is a cat with a congenital physical anomaly — a body type genetic mutation that causes the cat to be born with more than the usual number of toes on one or more of its paws. Normal cats have a total of 18 toes, with five toes on each front paw and four toes on each hind paw; polydactyl cats may have as many as eight digits on their front and/or hind paws. Polydactyly is most commonly found on the front paws only, it is rare for a cat to have polydactyl hind paws only, and polydactyly of all four paws is even less common.

deformed-babies: Exencephaly.

Fri, 29 Mar 2013 11:58:59 +0800

deformed-babies:

Exencephaly.

jtotheizzoe: “We’re gonna need a bigger boat … exactly twice as...

Tue, 26 Mar 2013 23:36:14 +0800

jtotheizzoe:

“We’re gonna need a bigger boat … exactly twice as big, actually.”

Check out this amazing newly discovered case of bicephaly in a shark! This is more commonly known as “having two heads”. It is the first time bicephaly been seen in a bull shark, although a two-headed blue shark has been found previously.

If you’re brave enough to look at more pictures of polycephaly in the animal kingdom, check out the Wikipedia page. And for the truly bold, here’s a two-headed milk snake eating a mouse (srsly, not for the faint of heart).

Why does this occur? Two-headedness, in any species, usually occurs when a fertilized embryo begins to split (like it would in the case of monozygotic twins), but fails to completely separate. Most of these failed splits are fatal before birth, but some of them can be carried to term (this shark was removed from a pregnant female in the Gulf of Mexico and died soon after). If you’d like to dig deeper, read about it in the Journal of Fish Biology.

We’re only a handful of heads short of a shark hydra! Get with it, evolution!

(via MSUToday)

malformalady: An omphalocele is a birth defect in which the...

Fri, 01 Mar 2013 11:50:23 +0800

malformalady:

An omphalocele is a birth defect in which the infant’s intestine or other abdominal organs stick out of the belly button. An omphalocele develops as a baby grows inside the mother’s womb. In babies with an omphalocele, the intestines are covered only by a thin layer of tissue and can be easily seen. An omphalocele is a type of hernia. Hernia means “rupture.”

medicalschool: A nice video showing the transcription of DNA to...

Wed, 27 Feb 2013 22:18:57 +0800

medicalschool:

A nice video showing the transcription of DNA to mRNA by RNA-polymerase. A messenger RNA transcript then exists the nucleus to find a ribosome. Their is it translated into a primary structure polynucleotide. Chaperonin fold proteins with the use of ATP into secondary and tertiary structures. Once realised from the chaperonin the protein may be complete or join part of a quaternary structure.

malformalady: A purple anenome chrysanthemum with a color...

Tue, 26 Feb 2013 21:04:24 +0800

malformalady:

A purple anenome chrysanthemum with a color mutation

prosthodontia: A preserved baby with the protrusion of brain,...

Sun, 10 Feb 2013 23:05:45 +0800

prosthodontia:

A preserved baby with the protrusion of brain, heart, liver, stomach and intestine, 1900.

Manual of Pathology. Joseph Coats and Lewis Keith Sutherland, 1900.

malformalady: A white forelock or The Mallen Streak is caused...

Tue, 29 Jan 2013 20:26:18 +0800

malformalady:

A white forelock or The Mallen Streak is caused by a defiencey known as Poliosis, a lack of compound-pigment melanin which provides colour in hair, eyebrows and eyelashes. This results in one or more white ‘streaks’ in hair. Poliosis is a symptom most commonly associated with Waardenburg syndrome, Marfan’s syndrome and other genetic disorders.

deformed-babies: Aplasia Cutis Congenita

Tue, 22 Jan 2013 22:57:05 +0800

deformed-babies:

Aplasia Cutis Congenita

fuckyeahforensics: Prune Belly Syndrome What is Prune Belly...

Sun, 20 Jan 2013 20:59:21 +0800

fuckyeahforensics:

Prune Belly Syndrome

What is Prune Belly Syndrome?

Prune belly syndrome is a triad of conditions composed of cryptorchidism, urinary tract abnormalities, and abnormalities in the musculature of the abdomen. The skin in surrounding the anterior abdominal wall appears thin, wrinkled and lax, hence the term “prune belly”. The presence of three abnormalities and its evident physical manifestation defines this clinical condition.

How Prevalent is Prune Belly Syndrome?

It is estimated that at least 1 in every 50, 000 live births have this condition and almost 95% are males. Most of the cases occur sporadically, and rarely familial cases occur.

Prune Belly Syndrome Characteristics

Three conditions are encompassed by this syndrome, because of this characteristic; prune belly syndrome is also called a triad syndrome. Specifically, the three conditions are as follows:

An abdominal wall musculature that is deficient

Urinary tract anomalies accompanied by megaureters and megacystis

Cryptorchidism

Deficient abdominal wall musculature

In prune belly syndrome, the child is born with a deficient abdominal wall musculature. This is one of the characteristics of prune belly syndrome which results from poor development of muscles in the abdominal area. It is usually the muscles in the ventral and lateral area that are most affected.

Without proper musculature of the abdominal wall, there is no support provided to the abdominal organs inside. The following conditions may happen as a result of the deficient musculature:

Vital organs such as kidneys, stomach and liver can be easily palpated

There is increased risk of damage to the abdominal organs even form a slight injury

Possible rupture of abdominal organs such as the spleen

Possible protrusion of the organs outside the body

Increased risk for hemorrhage and infection

A characteristic of the disease is the wrinkled appearance of the belly as a result of the poor musculature in the abdomen. The deficient musculature is attributed to the following:

Absence of muscles in the abdominal wall

Replacement of the muscles by collagenous dense tissue

Presence of hypoplastic atrophic or hypertrophic muscle fibers

Immature muscle fibers

This condition affects the infant’s growth and development; an impaired abdominal wall musculature can have the following effects:

Prevalence of respiratory infections

Delay in walking due to the severe protruding abdomen

Difficulty sitting up from a supine position

Constipation that becomes chronic

Anomalies in the urinary system

Another characteristic of this syndrome is the genitourinary tract abnormalities that accompany it. These include the following:

Renal hypoplasia

Dysplasia

Megacystis

Prostatic hypoplasia

Dilated prostatic urethra

Ureteral dilatation

Renal Hypoplasia. Renal hypoplasia involves the changes in the cellular structure and morphology of the kidneys. When cellular changes happen, it also alters the function of the whole organ itself. In this case, the kidney’s normal function is altered due to the changes in its normal cellular make-up.

Megacystis. Megacystis or enlarged bladder is also seen in this syndrome, because the bladder is grossly enlarged, it gives an hour glass shape or configuration. The gross enlargement is again attributed to the abnormal ration of connective tissues against the normal bladder tissues.

Prostatic Hypoplasia. In this syndrome characteristic, the prostate cells lacks epithelial cells, organs such as the prostate gland is normally composed of layers of epithelial cells, but in this syndrome, there is significant lack in the development of epithelial cells.

Dilated Prostatic Urethra. In this syndrome, the urethra near the prostate gland is found to be dilated.

Ureteral Dilatation. In prune belly syndrome, the ureters are found to be elongated, dilated and tortuous; it is usually the lower part of the ureters that are affected.

The abnormalities in the structure and cellular makeup of the kidneys and urinary system bring significant effects to the infant, these may include the following:

Urinary stasis and eventually urinary tract infection

Future infertility as a result of prostatic abnormalities

Improper drainage of urine

Possible kidney damage from infection and urinary stasis

Cryptorchidism

Individuals with prune belly syndrome have undescended testes or cryptorchidism. in majority of the cases, the testes are found within the abdomen. An undescended testis increases the risk of forming testicular malignancies in later life. This risk increases by about 30-50 times among males with prune belly syndrome.

Signs and Symptoms

Muscular and Gastrointestinal

Absence of abdominal wall muscles

Wrinkled appearance of the abdomen

Atresia

Volvulus

Wandering spleen

Chronic constipation

Genitourinary

Bladder distention

Urinary stasis

Urine backflow

Recurrent urinary tract infections

Difficulty urinating

Reproductive (in later life)

Discomfort post ejaculatory

Infertility

Bladder spasms

Causes

What causes prune belly syndrome is generally unknown, but certain factors are thought to lead to the condition.

Chromosomal abnormalities

Embryological defects

Defects in the mesenchymal plate

Imperfection in the urethra that are inherent

An early obstruction of the urinary system

Diagnosis

1. Ultrasound. Ultrasound studies can be done while the infant is still inside the mother’s womb; this is possible since one of the theories explaining the cause of include embrologic defects and inherent imperfections in the urinary tract system. These events can actually occur inside the womb. Ultrasound studies usually reveal large abdominal mass or enlarged kidneys.

2. Radiograph studies. This would further give the clinician a picture of the bladder and ureters, tortuous ureters and an enlarged bladder is usually seen in infants with prune belly syndrome. Radiographic studies such as this helps the clinician look for internal anomalies related to the syndrome.

3. Voiding cystourethrogram. This diagnostic test involves viewing the urethra and bladder while urinating to evaluate bladder, ureter or kidney abnormalities, this is usually done to patients who have chronic urinary tract infections.

Treatment

PreNatal - Sonographic monitoring of the urinary tract and amniotic fluid volume is required throughout the pregnancy. When early and/or severe distention of the urinary tract is observed, a vesicoamniotic shunts with vesical decompression and correction of the amniotic fluid levels has been proposed to improve renal and pulmonary function. Anatomic abnormalities that warrant consideration of correction are those that interfere with critical fetal organ development. Experimental evidence suggests that fetal urinary tract obstruction, whether intermittent or persistent, can lead to renal dysplasia, which is often irreversible, even if the obstruction is relieved immediately after birth. The percutaneous placement of an indwelling catheter for urinary diversion is one possible therapy. Urinary tract decompression in the early second trimester is desirable to reduce the potential for ongoing damage to the developing kidneys. The benefits of such therapy remain controversial and are yet to be evaluated in a prospective, randomized fashion. As such, urinary diversion should be considered on a case-by-case basis. Additionally, correction of severe oligohydramnios as early as possible should reduce the possibility of pulmonary hypoplasia.

PostNatal - The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a vesicostomy, which allows the bladder to drain through a small hole in the abdomen. Boys may have an orchiopexy, which moves the testicles to their proper place in the scrotum. Abdominal wall reconstruction for both aesthetics and function is often necessary. Because 75% of individuals with Prune-Belly syndrome have extra urinary anomalies, a thorough evaluation, especially cardiac, should be performed.

Prognosis

The prognosis depends on the degree of renal function compromise. Outcome is typically good in cases of Prune-Belly Syndrome with normal amniotic fluid volume. The early urinary obstruction, present in the majority of cases, leads to renal failure, pulmonary hypoplasia, and death in the neonatal period. More than 60% of infants died in the first week of life. Early decompression of severe bladder obstruction improves the prognosis. Fetuses that develop mild urinary tract distention have better prognosis. Mild hydronephrosis and megalourethra may be the only manifestations in these cases. In adolescent and adult life, the abdomen often assumes a smooth “pot belly” configuration.

Recurrence risk

Unknown, but low. A familial occurrence has been seen in some affected patients, suggestive of an X-linked inheritance 6. A multifactorial, or polygenic, inheritance has also been proposed.

fyeahhthebizarre: Sirenomelia (Mermaid...

Fri, 18 Jan 2013 20:55:15 +0800

fyeahhthebizarre:

Sirenomelia (Mermaid Malformation)

Sirenomelia is sporadic defect in about 1 of 60,000 newborn infants, more often in males, and it is more common in one of identical twins. It is a severe developmental field defect of the posterior axis caudal blastema, resulting in apparent fusion of the lower limb buds. From the Gross Specimens collection, courtesy of AUBMC, Department of Pathology.