Down syndrome – Chromosomal birth defect

Down syndrome - Blue Apple Theater Hamlet Actors

Down syndrome - Charity gifts for children with cancer, the Vanessa Isabel Foundation

Down syndrome - 2019

Down syndrome - Trisomia

Down syndrome - Guy with down syndrome
 
 
 
Down syndrome - He just having fun at workPianistNewborn with down syndromeWilliam i Tommy JessopMarch for Life 2019

Down syndrome – Chromosomal birth defect

Down syndrome – This is the most common chromosomal birth defects. This happens just after fertilization, when one extra chromosome appears in the first cell. Each healthy cell in the human body contains 46 chromosomes in 23 pairs. In Down’s syndrome, there is an anomaly in which each cell contains three 21 chromosomes, instead of two. This is why the other name of this disease is chromosome 21 trisomy (tripling). Only 4% of patients experience this so-called translocation (displacement), whereby a redundant part of the 21st chromosome attaches to another chromosome.

The outbreak of this disease is considered a genetic lottery, and scientists have yet to investigate the cause of the mutation. Children with Down syndrome have distinctive facial features – slanted eyes. A stronger build and a flat rounded face. They are also often more prone to cardiovascular disease. They are also 3-5 times more likely to suffer from Alzheimer’s.

The risk factor is the age of the parents – in mothers over 35, in fathers more than 50. 92% of affected fetuses in Europe are aborted.

Albinism – The body doesn’t produce melanin

Albinism - Thierry Moungalla

Albinism - WSIS Forum 2013

Albinism - The swearing-in ceremony of the President of Namibia

Albinism - Nigerian advocate
 
 
 
Albinism - Ikponwosa Ero - Nigerian lawyerSalif KeitaStanley Sataan Kaoni - Albinistic former Solomon Islander militant leaderThando Hopa

Albinism – The body doesn’t produce melanin

Albinism – This is a fairly rare genetic , disease as a result of which the patient’s body does not produce melanin. You can recognize them at a glance. They generally have a white complexion reaching pink, very fair hair and body hair. Their eyes are pink and sometimes even red, which is caused by the show-through of the capillaries. The cause of albinism is the lack of the tyrosinase enzyme, which is responsible for the production of melanin. If another pigment, such as carotene, for example, remains intact, the skin of the affected person does not have to be snow-white.

Melanin is responsible for the color of the skin, hair, hair and eyes. Its main function is to protect the body from ultraviolet rays, so that albinos also have to use a protective cream in winter. Melanin also protects the eyes by helping to regulate the amount of light entering them. If this pigment is missing in the eyes, the patient develops conditions such as photophobia or strabismus.

The albino is at a higher risk of developing skin cancers. Their skin also tends to age faster.

Achondroplasia – Most common cause of dwarfism

Achondroplasia - Hands of a girl

Achondroplasia - Hands of three sisters

Achondroplasia - Photo of young woman

Achondroplasia - Treasury of human inheritance
 
 
 
Mr. Keizer, the smallest man in the NetherlandsGirl with Achondroplasia and woman with MyxedemaChondrodystrophia foetalisAchondroplasia - An achondroplastic female dwarf

Achondroplasia – The most common cause of dwarfism

Achondroplasia – It is one of the most common causes of dwarfism. The disease is caused by an abnormal mutation in the FGFR3 gene , the receptor for the fibroblast growth factor. Achondroplasia is one of the bone dysplasias, i.e. impaired bone growth. People with achondroplasia are generally small. The adult reaches 120-130 cm, has a characteristic long torso and very short limbs. The skull, on the other hand, is expanded and has a broad, convex forehead.

Diagnosis of achondroplasia in a child is possible already during pregnancy using ultrasound of the amniotic fluid. The disease is caused by a gene mutation that prevents the skeletal system from developing efficiently. A parent’s disease means a child is 50 percent likely to have it. The disease cannot be treated, but spinal canal surgery is performed to prevent compression of the spinal cord. Limb extension surgery is also one option.

The main risk factor is the age of the parents.

Naked mole – rat – Heterocephalus glaber

Naked mole-rat - Heterocephalus glaber - EatingNaked mole-rat - Heterocephalus glaberHeterocephalus glaber - Louisville-ZooHeterocephalus glaber - Museum of Natural History - Genova, Italy

Naked mole-rat – Heterocephalus glaber

Naked mole-rat – Heterocephalus glaber – Is practically blind and has no pain. This rodent lives in East Africa. It is digging underground corridors in search of tubers and roots. For this he uses the incisors that are in front of the lips, so that the soil does not get into the mouth.
Mole-rats spend almost their entire lives underground without going to the surface. They are unusual for many reasons. Not only are they the only cold-blooded mammals, they are also resistant to cancer, aging, hypoxia and pain.
Their almost completely hairless, thick and wrinkled skin. It is insensitive to abrasions or scratches. Because Mole-rats do not have the key neurotransmitter for pain conduction (substance P).

Naked mole-rats are the longest-living rodents (they live to 30 years)

And their risk of death doesn’t increase with age. These animals have very active mechanisms repair DNA.
They also tolerate extreme hypoxia, which often occurs in narrow and stuffy underground tunnels. When there is a lack of air, mole-rats reduce life activity. They change the energy supply process (break down fructose instead of glucose). In this way they avoid brain damage.
The equally interesting is structure Social. Which resembles swarms of bees or ant colonies. Flocks of these rodents count from several dozen to 300 individuals. At the same time, only the queen and prolific male breeds. The rest are sterile and conscientiously work for the herd.

Nevado del Ruiz – Colombia

Nevado del Ruiz - Almost 2 weeks after its deadly eruption in 1985, Viewed from the northeastEruption of Nevado del RuizSummit after the eruption that caused the Armero tragedy - 11.1985Nevado del Ruiz Volcano, Colombia - NASANevado del Ruiz - 1985Volcanic rocks in the perennial snow - ColombiaRefuge hostel Mountain top with perennial snow - ColombiaView from bamboo plantation

 
 
 

Nevado del Ruiz – Colombia

 

  • Location: Colombia
  • Peak: 5321 m a. s. l.

 
Nevado del Ruiz volcano, already active for around 2,000,000 years, is 130 km west of the capital of Colombia – Bogota. It has many layers of lava hardened alternately with volcanic ash and other pyroclastic rocks. The mountain is part of the volcanic massifs created by five more volcanoes covered with glaciers. Four of them are still active.

The volcano became famous thanks to its catastrophic eruption, which took place on November 13, 1985. As a result, glacier peaks of 25 kmĀ² have melted. The resulting lahars, flowing at a speed of 40 to 60 km / h, flooded the city of Armero and several surrounding villages with a layer of mud deep for 6 meters. Only in the city more than 21,000 citizens died (out of a total of 23,000). Losses reached $ 1 billion. The consequence of this catastrophe was the adoption by Colombia of security measures that should reduce the risk of death for so many people.

In September and October 2010, a gradual increase in seismic activity near the Arenas crater was noticed. Over the next four months, there were earthquakes that increased fear of further devastating eruptions.

Threats to humanity – Existential risk

Threats to humanity - Jaan Tallinn

Threats to humanity – Existential risk

Threats to humanity – In 2013. At the University of Cambridge opened the institute, which is investigating the most serious threats to humanity: artificial intelligence, climate change, nuclear war and biotechnologies. The plant bears a frightening name Centre for the Study of Existential Risk (CSER, “research center existential risk”) and apart from philosophers working in the IT specialists and engineers, for example. Jaan Tallinn, co-founder of Skype.

Smoking threatens deafness

Smoking threatens deafness - Cigarette in ashtray

Smoking threatens deafness

Smoking threatens deafness – British scientists from the University of Manchester conducted hearing tests on a group of 165 thousand. men and women aged 40 to 69 years. Which was a representative sample of the British population. The results largely confirm previous analysis and showed that suffers from hearing loss approx. 30% of smokers. It turned out that between the risk of hearing loss, and smoking, there is a direct relationship.

Caffeine consumption – Turned out risk of suicide

Caffeine consumption - Coffee in cups

Caffeine consumption – Turned out risk of suicide

Caffeine consumption – Turned out risk of suicide – Researchers analyzed data from three American studies. Which for 20 years in 200 thousand. men and women observed in the total consumption of caffeine. Not only coffee, but also in other food products. Such as: tea, chocolate or energy drinks. It turned out that the risk of suicide among adults who drink several cups a day of caffeinated coffee. It was almost twice lower than in those who drank decaffeinated coffee, very little coffee or do not consume this drink.

Cardiovascular disease risk – Higher among bald men

Cardiovascular disease risk - Bald Man's Nape

Cardiovascular disease risk – Higher among bald men

Cardiovascular disease risk – Higher among bald men. Up to about 1/3, compared to the other men. Tests on 37 thousand. men carried Japanese scientists. Hair loss depends on the activity of male hormones, which also accelerate hardening of the blood vessels, or the effects of atherosclerosis.