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Inherited illness

Category: Illness or disabilities

Type

Involuntary

Introduction and description

Inherited jeans [sorry my joke]...................
 

Genetic disorders or genetic diseases are caused by one or more abnormalities in the genome. 

Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA.  This is of course of great interest – what is causing these mutations or changes to the DNA?

If we put this in another way, an abnormality in the genome which causes your disease can be

  • Acquired via the faulty genes of parents - inherited
  • Acquired via an environmental pathogen or stressor – not inherited

In the case of a faulty genome caused by a pathogen or stressor at some point in your life, this faulty genome may or may not be inheritable by subsequent generations.

How are these Diseases Inherited?

 

In the nucleus of every cell in the body there are 46 chromosomes. Each chromosome is a package that holds many genes. Our genes contain DNA, the set of instructions that makes up who we are. All chromosomes (and the genes that are on those chromosomes) come in pairs. We receive one member of each pair of chromosomes from our mother and the other member of the pair from our father. Sometimes there is a change in a gene -  a mutation - that causes the gene to malfunction.

 

 

 

Dominance in genetics is a relationship between alleles of one gene. 

The alleles and their associated traits are autosomal dominant or autosomal recessive. 

Where the term ‘autosomal recessive’ is used, for example,  it means that an affected person has a change in both genes of the pair of genes, one change inherited from each parent.

Neither gene in the pair is working properly, which causes the symptoms of the disease.

A carrier is someone who has a change in only one gene of the pair of genes. Carriers are healthy individuals who are only at risk for passing the gene change on to their children.

 

The increasing prevalence of genetic disorders

Inherited jeans ........................

Most genetic disorders are relatively rare.   But they do seem to be increasing in number.  Not only are the number of genetic disorders increasing, but in absolute terms the number with those disorders.

The following facts come from the Global Genes website which tries to provide help to the suffering and more awareness of the problem of genetic disorders to the attention of the rest of us. 

Here they cover rare disorders, disorders that have suddenly appeared in the last few years. Rare disorders are of interest because they might tell us something about the trends – the increase in genetic and inherited disease. 

  • Number of rare disorders - There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day.  However, the prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
  • 80% of rare diseases are genetic in origin – in other words they are caused by a faulty genome and will be present throughout a person’s life, even if symptoms do not immediately appear
  • The absolute numbers - If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country – given that 80% of the rare disease are genetic this is a very very large number of people who are now suffering from inherited and/or genetic disorders
  • A huge recent increase - Approximately 50% of the people affected by rare diseases are children and 30% of children with a rare disease will not live to see their 5th birthday.  Rare diseases are responsible for 35% of deaths in the first year of life.  What this means is that if we saw this as a graph over time, the figures of those with inherited diseases would shoot up for recent years.
  • No one is looking at why - Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

Again, not only are the number of genetic disorders increasing, but in absolute terms the number with those disorders is increasing at an alarming rate. 

Whether this is due to a better understanding of genetics and disease, or that more children with inheritable disease are surviving to pass the genetic disorder on, or whether the causes are increasing is still not determined.  It is possibly all three of these.

Genetic susceptibilites

Inherited jeans?  Or just a behavioural pattern
..............

There has been some research done that shows where people with certain genes are more susceptible to developing a disease.  Here instead of saying we have a faulty gene – which can be absolutely identified and which we know will have an effect – it is saying that people with some genes are more at risk from certain diseases.

It is somewhat similar to saying a person with poor vision is more susceptible to being run over crossing the road, but in the first place the person may have the common sense to use a zebra crossing, or in the second place never be in a position where they have to cross the road, as such the statistics only tell us risks, not actualities.  Furthermore these tables do not say the gene is the cause of the disease.

In theory, it may be of help as a guide to prevention.   The actual development of the disease may depend in large part on a person's environment and lifestyle. While we cannot change our genes, we can alter our lifestyle and environment to prevent or delay the onset of such a disorder. But there are those doing some extremely foolish things as a consequence of these tables.  Like removing their breasts to prevent breast cancer.

One of the reasons people in families get a disease may be far more to do with their exposures to the same types of pathogen.  Families tend to act similarly, they learn patterns of behaviour together, so even if they are miles apart, they may still be exposing themselves because their behaviour patterns are the same.  If they live together they are also being constantly exposed to the same pathogens or stressors, sometimes unconsciously.

No inherited jeans, just behavioural patterns ..............

It is known that certain types of radiation from mobile phones destroys the blood brain barrier.  If all the family use mobile phones then all are at risk from this exposure.  If a pathogen gets into the brain, because of a damaged barrier, it can then cause dementia or Alzheimers and the risk is there in all the family, but it is not a genetic risk, it is a behavioural risk.

Studying families and using just statistics is not reliable.  There has to be a direct explanation as to WHY that genetic variation is a risk.  Without this explanation any table of simple statistical correlations becomes meaningless.

If the tables are accurate, showing the gene, the mutation, the effect and why the effect occurs leading back to some environmental activity or pathogen, then we can act.  If not we shouldn’t.

The ability to sequence mitochondrial genomes quickly and cheaply has led to an explosion in available mtDNA data. As a result, an expanding literature is exploring links between mtDNA features and susceptibility to, or prevalence of, a range of diseases. Unfortunately, this great technological power has not always been accompanied by great statistical responsibility. I will focus on one aspect of statistical analysis, multiple hypothesis correction, that is absolutely required, yet often absolutely ignored, for responsible interpretation of this literature. Many existing studies perform comparisons between incidences of a large number (N) of different mtDNA features and a given disease, reporting all those yielding p values under 0.05 as significant links. But when many comparisons are performed, it is highly likely that several p values under 0.05 will emerge, by chance, in the absence of any underlying link. A suitable correction (for example, Bonferroni correction, requiring p < 0.05/N) must, therefore, be employed to avoid reporting false positive results. The absence of such corrections means that there is good reason to believe that many links reported between mtDNA features and various diseases are false; a state of affairs that is profoundly negative both for fundamental biology and for public health. I will show that statistics matching those claimed to illustrate significant links can arise, with a high probability, when no such link exists, and that these claims should thus be discarded until results of suitable statistical reliability are provided. I also discuss some strategies for responsible analysis and interpretation of this literature.  PMID:  25884427

Example diseases

As there are several thousand genetic inheritable diseases it would be a nonsense to list them all here.  But it is useful to home in on some interesting ones.  Where more details are  in the science section a link has been provided.  Furthermore we have expanded some genetic diseases and given them a section on their own, again the link takes you to the detail:

  • Inherited jeans ...................
    Tay-Sachs Disease - Individuals with Tay-Sachs Disease lack an enzyme called hexosaminidase (Hex A). It is caused by a genetic mutation in the HEXA gene on (human) chromosome 15. 
  • ADH deficiency - alcohol dehydrogenase (ADH) deficiency is caused by a mutation in the ADH1C gene, which encodes an ADH subunit; mutations in the ADH1C gene lead to acute sensitivity to alcohol ingestion, and resulting in flushing of the face (Hunter, 2005).
  • Aicardi–Goutières syndrome (AGS) -  As at 2014 at least 400 cases of AGS are known. It is an early onset childhood, inflammatory disorder most typically affecting the brain and the skin.  AGS can occur due to mutations in any one of a number of different genes.  
  • Charcot-Marie-Tooth disease (CMT), - is associated with mutations or copy-number variations in over 70 genes.  The disease is the most commonly inherited neurological disorder, and affects approximately 1 in 2,500 people.
  • Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder caused by a defect in the structure, production, or processing of collagen and itslef caused by mutations in the COL5A or COL3A genes
  • Fabry disease - is caused by a deficiency of the enzyme alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation.   The incidence of Fabry disease is estimated to be between one in 40,000 and one in 120,000 live births.
  • Pompe disease  - or Glycogen storage disease type II  is an autosomal recessive metabolic disorder caused by a mutation in a gene (acid alpha-glucosidase: also known as acid maltase).  The incidence of the disease is approximately 1 in 140,000 for infantile GSD II and 1 in 60,000 for adult GSD II.
  • Hajdu–Cheney syndrome, is caused by mutations in the NOTCH2 gene, identified in 2011. HCS is so rare that only about 70 cases have been reported worldwide, since the discovery of the syndrome in 1948.
  • Hereditary angioedema (HAE) exists in three forms, all of which are caused by a genetic mutation inherited in an autosomal dominant form. Types I and II are caused by mutations in the SERPING1 gene, Type III HAE has been linked with mutations in the F12 gene.
  •  designer jeans ......
    Hunter syndrome, is due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S) caused by a mutation to the IDS gene located on the X chromosome. Approximately 2,000 people are afflicted with Hunter syndrome worldwide, 500 of whom live in the United States.
  • Wilson's disease  is due to mutations in the Wilson disease protein (ATP7B) gene. Wilson's disease occurs in 1 to 4 per 100,000 people
  • Nail–patella syndrome (NPS)  - is  linked to aberrancy on human chromosome 9's q arm (the longer arm), 9q34.  It is associated with mutations in the LMX1B gene.
  • Coffin-Lowry syndrome – is a genetic disorder caused by mutations in the RPS6KA3 gene
  • Fibrodysplasia ossificans progressive - is an extremely rare disease in which the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. A mutation in the gene ACVR1 is responsible for the disease
  • Hypophosphatasia is caused by a mutation in the gene encoding tissue non-specific alkaline phosphatase (TNSALP). 
  • Klippel–Feil syndrome is a rare disease. Those with the syndrome have a very low hairline and the ability of the neck to move is limited.  Mutations in the GDF6 and GDF3 genes are believed to cause the disease, although some people with Klippel–Feil syndrome do not have this mutation. 
  • Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin, however, there are indications that a pathogen is causing the mutation.
  • Cystic fibrosis -  is a recessive genetic disease which affects the entire body, causing progressive disability and often early death. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).
  • Mohr-Tranebjaerg syndrome (MTS) is an X-linked, recessive, syndromic sensorineural hearing loss (HL) followed by progressive neural degeneration affecting the brain and optic nerves
  • Marfan syndrome is a rare, autosomal dominant, multisystem disorder, presenting with skeletal, ocular, skin and cardiovascular symptoms.
  • Cerebral palsy - About 2% of all CP cases are inherited, with glutamate decarboxylase-1 being one of the possible enzymes involved. Most inherited cases are autosomal recessive, meaning both parents must be carriers for the disorder in order to have a child with the disorder
  • Rett syndrome - is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients

 

So we have an abbreviated list of all the diseases known to be genetically determined - not genetically caused but affected by gene mutations.  But even if we carried on with this list, we still would not have plumbed this problem, because alterations to genes - destruction of genes in other words is the cause of a host of other diseases and illnesses or events that are not classified as gene related, for example:

To analyze the genetic effect of the abnormal chromosome karyotype, we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012. … Among tested samples, 105 new human abnormal karyotypes were identified (86 reciprocal translocation, 10 chromosomal inversion, six derivative chromosome, one duplication, one isochromosome, one partial trisomy and monosomy). The results suggest that chromosomal abnormalities were a major cause of miscarriage, infertility, congenital abnormalities, mental retardation and amenorrhea in humans.  PMID: 23853359

in other words, damage to genes - which may or may not be inheritable - is causing a great deal of suffering and damage - including brain damage.

Causes

Toxins

A clastogen in biology is a mutagenic agent giving rise to or inducing disruption or breakages of chromosomes, leading to sections of the chromosome being deleted, added, or rearranged.  This process is a form of mutagenesis, and can lead to carcinogenesis, as cells that are not killed by the clastogenic effect may become cancerous.
Known clastogens include acridine yellow, benzene, ethylene oxide, arsenic, phosphine and mimosine.  But this is just the tip of an iceberg of enormous proportions.

Exposure to clastogens increases the frequency of abnormal germ cells in paternal males, contributing to developmental effects in the fetus upon fertilization.

Rather than provide yet more examples of toxins that cause damage we shall point you to Dr T H Shepard’s Catalog of Teratogenic Agents.   Teratogens are pharmaceuticals, drugs, toxins and other chemicals that may cause birth defects via a toxic effect on an embryo or fetus.  The research is in book form and there is now also TERIS – an online database.

The Catalog contains information on over 3500 agents.  This may be worth reading again.  Pollutants in the air, the chemicals and additives used in food, drugs, packaging materials, nanoparticles, bottles, plastics - in fact a host of man-made chemicals are mutagenic.

 “For the obstetrician, pediatrician, and geneticist it helps answer the often-asked question: Does this agent produce congenital defects in the human or animal?”

Thomas H. Shepard, M.D. is Professor Emeritus, Department of Pediatrics, University of Washington, Seattle, WA

Viruses and vaccines

One very intriguing theory that has emerged from recent research is that a number of apparently inherited diseases are due to viral infection.

Retroviridae is a family of enveloped viruses that replicate in a host cell through the process of reverse transcription. A retrovirus is a single-stranded RNA virus that stores its nucleic acid in the form of an mRNA genome and targets a host cell as an obligate parasite. Once inside the host cell the virus uses its own reverse transcriptase enzyme to produce DNA from its RNA genome, the reverse of the usual pattern, thus retro (backwards). This new DNA is then incorporated into the host cell genome by an integrase enzyme, at which point the retroviral DNA is referred to as a provirus. The host cell then treats the viral DNA as part of its own genome, translating and transcribing the viral genes along with the cell's own genes, producing the proteins required to assemble new copies of the virus. It is difficult to detect the virus until it has infected the host. At that point, the infection will persist indefinitely.

damaged jeans ........

The following table was obtained from information on Wikipedia on retroviruses in general.  Notable are the Hepatitis viruses and the Simian virus - the latter because it was found in a  batch of Polio vaccine. 

Simian virus 40 (SV40), a polyomavirus of rhesus macaque origin, was discovered in 1960 as a contaminant of polio vaccines that were distributed to millions of people from 1955 through early 1963. SV40 is a potent DNA tumor virus that induces tumors in rodents and transforms many types of cells in culture, including those of human origin. ...  PMID: 9923853

There is also a Hepatitis vaccine. The Hepatitis B vaccine is routinely given to those born premature.  The vaccine is given by injection into a muscle.  The current vaccines are produced with recombinant DNA techniques.

Source:  Wikipedia

Alpharetrovirus; -eg Avian leukosis virus; others include Rous sarcoma virus

Betaretrovirus; eg: Mouse mammary tumour virus

Gammaretrovirus; eg: Murine leukemia virus; others include Feline leukemia virus

Deltaretrovirus; eg: Bovine leukemia virus; others include the cancer-causing Human T-lymphotropic virus

Epsilonretrovirus; eg: Walleye dermal sarcoma virus

 

Metaviridae

Pseudoviridae

Retroviridae — Retroviruses, e.g. HIV

Hepadnaviridae — e.g. Hepatitis B virus

Spumavirus; eg: Simian foamy virus

Lentivirus; eg: Human immunodeficiency virus 1; others include Simian, Feline immunodeficiency viruses

 There are a number of these viruses that affect fish and animals.  We have included some in the list above.  The epsilonretrovirus , for example, is a waterborn genus of the retroviridae family and infects fish.

Mouse mammary tumor virus (MMTV) is a known cause of mammary tumors in mice.  A retrovirus homologous to MMTV is involved in human breast cancers - the detection of MMTV-like exogenous sequences has been detected in 30-40 % of invasive breast cancer

To detect the prevalence of MMTV in Pakistani population, 666-bp-long MMTV envelop and 630-bp LTR sequences were amplified from breast cancer patient samples (tissue biopsies and peripheral blood) using mouse with mammary tumor as control. MMTV-like virus env and LTR DNA sequences were detected in 20 and 26 % of breast tumor samples, respectively, from the total of 80 breast cancer patients' blood and tissue samples. PMID: 24839004

so some breast cancers may be caused by this virus and as such, since it is a retrovirus, it may be that the virus is being passed from mother to daughter [or son].  Breast cancer is thus NOT an inherited disease, but in some cases, the virus might be inherited.

So strictly speaking those diseases classified as inherited are only inherited in the sense that the virus is inherited.

We investigated the retroviral/retroposon hypothesis of schizophrenia by generating sequences … from a cDNA library from postmortem brain tissue from an individual with psychosis ….. The closest match of these … sequences is to a family of retroposons, that has evolved from the HERV-K family of endogenous retroviruses, some members of which (e.g., SINE-R.C2) appear to be specific to the human genome. This element has been reported as a cause of Fukuyama-type muscular dystrophy [Kobayashi et al., 1998: Nature 394:388-392].PMID:  10490717

 Nanoparticles

 

Nanoparticles are toxins, but they are being considered more and more as the delivery vehicle for drugs.  As such they carry the risk of causing mutations both in the form of airborne particles, within drugs and also in cosmetics and skin prodicts.  Nanoparticles are used in some sunscreen lotions, for example, even those for children and there is not mandatory labelling required.

In this paper, the effects and mechanisms of genotoxicity caused by different nano materials are discussed. [The] human body can be exposed to metal nano materials through multiple pathways, nano-metals follow the blood stream in the circulatory system and [are] distributed to organs. Metal nano particles are mainly taken up into cells by endocytosis, and direct or indirect damage to genes can be induced by these particles after metabolism in cells. These damages would affect the course of cell cycle and the stability of the genome, resulting in gene mutation or chromosome aberration, and even leading to the death or malignant transformation of cells.  PMID: 26733143

Pharmaceuticals

The eHealthme site collects Adverse Drug Reports submitted by doctors to the FDA and SEDA in the USA.  One of the categories of conditions is 'gene mutation'.  In other words  the ADR has recorded that a pharmaceutical is implicated in causing gene mutation in a patient [no age specified].  The category is relatively new and of course difficult to identify, as such the very fact so many reports have been submitted by doctors themselves is itself cause for alarm.  

The following LINK should take you to the section on the eHealthme site that covers Gene mutation.  We have had some difficulty with broken links from this site as they have reorganised a number of times.  The category is classified not as a 'condition' but as a 'side-effect' as such it may be difficult to find.  If the link still works, scroll down and you will find a section, 'Drugs that could cause'.  If you press this link it will give you an up-to-date list of all the pharmaceuticals implicated in causing gene mutations.

As of December 2016, over 100 pharmaceuticals were implicated and amongst those were a number of contraceptive drugs.  In other words, if the person was on contraceptives when they became pregnant, or the contraceptive had not been removed from the person's system, there was a possibility of gene mutation.  Given the prevalence in the young of getting pregnant even though using contraceptives - in effect the contraceptives don't work, this is an exceptionally worrying statistic.

Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes.  There is a section on eHealthme called ‘cytogenetic analysis abnormal’ and if one scrolls down and presses the section ‘Drugs that cause’ it lists the pharmaceuticals implicated in causing chromosomal abnormalities.  As of December 2016, there were about 50.

blue jeans

If we now take one of these 'inherited diseases' at random - cystic fibrosis, for example, and again use the eHealthme statistics, follow the link and then scroll down and you will find a section 'Drugs that could cause'.  As of December 2016, over 100 pharmaceuticals were implicated in causing cystic fibrosis.  Amongst the list of drugs we find - of course - Immunosuppressants, which suppress the immune system, as such given that viruses are capable of causing gene mutations, it is hardly surprising that if one suppresses the only defence we have against viruses that gene mutation will occur [words like corticosteroids, specifically glucocorticoids, hide the fact these are immunosuppressants].  Similarly a number of asthma/COPD treatments also suppress the immune system.  Thus if you are pregnant and using asthma treatments there is a possibility your baby will have mutated genes, if you are in any way infected with viruses.

If you are diabetic, and pregnant, there is also a risk from medication.  Straightforward insulin has no record of causing ADRs of this sort , but Insulin lispro (marketed as Humalog) an insulin analog, does.  According to the eHealthme site [and we can only go by the statistics of this site], as of December 2016, 15 cases of cystic fibrosis were caused by this pharmaceutical.

There is one very confusing statistic on eHealthme which we will report but are not able to analyse, and that is that Pulmozyme is stated as being a cause of cystic fibrosis, as well as a treatment.  Whether this is because it is being used off label we have no idea:

Wikipedia
Dornase alfa
(proprietary name Pulmozyme ) is a ...solution of recombinant human deoxyribonuclease I (rhDNase), an enzyme which selectively cleaves DNA.

 Another class of drug that appears to be implicated is that to treat GERD - the Proton Pump Inhibitor.  Stomach acid is an absolutely essential part of the immune system, as the acid prevents viruses and bacteria from entering the intestines and from there the body as a whole, as such the PPIs, by suppressing stomach acid, could result in pathogens entering the body.  And thereby the pathogens cause the mutation, but ultimately the pharmaceuticals are to blame.  Antacids may do the same thing, however, eHealthme has no statistics to support this, only logic might tell us that the same effect could be expected.

Although we have picked out cystic fibrosis as an example, the picture appears to be fairly constant across many of the inherited conditions.  Inherited Myopathy , for example, is a muscular disease in which the muscle fibers do not function for any one of many reasons, resulting in muscular weakness.  It is on the increase


 and again about 100 pharmaceuticals are implicated in causing the disease [scroll down the page on eHealthme and follow the 'Drugs that could cause link]. 

There are the expected immunosuppressants in this list, as well as the PPIs, but interestingly extra pharmaceuticals appear - drugs to reduce hypertension, statins, osteoporosis treatments, blood thinners.  Thus there is more to this than just the suppression of the immune system.  The implication is that some drugs may be acting as gene mutation agents, again assuming the statistics on eHealthme can be used.

 

 

 Reproductive intervention

The toxic environments in which we now live, have increased all our chances of suffering gene mutation, which may or may not be passed on to our offspring.  Under normal circumstances, a fetus that is not viable because it has been damaged genetically, is miscarried/aborted, may be born prematurely or may be stillborn.  Furthermore, a man who is exposed to outside factors which cause gene mutation in him or his sperm, or a woman who has been exposed so that her eggs are genetically damaged, may be ‘infertile’.  But our doctors do their level best to prevent miscarriages, save preterm babies that are barely viable and provide expensive treatment for those that are apparently sterile.  The baby born under these circumstances may not survive, but if it does it may be harbouring a recessive gene mutation, that appears much later

Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. ……The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.  PMID: 19273421

 Radiation

jean pool

All radiation whether 'cosmic' or electromagnetic impacts our bodies and depending on its frequency, it resonates different parts of us. 

The reason that nuclear radiation is so dangerous is that it impacts cells, but what we appear to have overlooked is that all radiation impacts some part of us. 

Every aggregate in our bodies - organs, cells, the body itself, has natural ‘resonance’.  Resonance is a substance’s natural tendency to oscillate – vibrate – at maximum amplitude at certain frequencies, known as the thing’s resonant frequency. 

And some radiation affects DNA and genes.  High intensity radiation affects genes in the short term, but even low exposure radiation of the 'right' frequency can have an effect in the long term. This is a much larger problem than people realise .....

To evaluate the effects of laptop computers connected to local area networks wirelessly (Wi-Fi) on human spermatozoa…… Donor sperm samples, mostly normozoospermic, exposed ex vivo during 4 hours to a wireless internet-connected laptop showed a significant decrease in progressive sperm motility and an increase in sperm DNA fragmentation. Levels of dead sperm showed no significant differences between the two groups…… We speculate that keeping a laptop connected wirelessly to the internet on the lap near the testes may result in [sperm damage]. Further in vitro and in vivo studies are needed to prove this contention.  PMID:  22112647

 

References and further reading

Note:  For those who consider the photos somewhat lighthearted given the gravity and seriousness of this subject, that was the idea.  A world full of several hundred thousand toxins, all man made, all released on a world that was once pristine by chemists and industrialists, medics and the mercenary, causing misery on an unprecedented scale to millions of children and adults, needs something to contrast it, otherwise one might be inclined to shoot oneself over the sheer stupidity of man.
  • Barlow SM, Sullivan FM: Reproductive Hazards of Industrial Chemicals. London: Academic Press, 1982. - This book reviews the available clinical and animal data on the reproductive toxicity of approximately 50 industrial chemicals. Information regarding the teratogenic, mutagenic, and carcinogenic effects of each chemical is included.
  • Briggs GG, Freeman RK: Drugs in Pregnancy and Lactation: A Reference Guide to Fetal and Neonatal Risk, 10th ed. Philadelphia, Pa.: Wolters Kluwer Health, 2015. - This reference contains over 1150 monographs on fetal risks associated with prenatal exposure to drugs. The monographs also provide information regarding risks associated with the use of these drugs during lactation. Most of the information is based on human studies, although animal studies are included for a few of the monographs.
  • Folb PI, Graham Dukes MN (eds): Drug Safety in Pregnancy. Amsterdam: Elsevier Science Publishers BV, 1990. - This book provides a comprehensive review of the literature pertaining to the safety of drugs for the fetus and pregnant woman. Animal and pharmacological data are included when relevant to the understanding of fetal toxicity. Material is presented according to categories of drugs.
  • Friedman JM, Polifka JE: Effects of Drugs on the Fetus and Nursing Infant: A Handbook for Health Care Professionals. Baltimore, Md.: The Johns Hopkins University Press, 1996. - This book was designed to assist physicians and other health care professionals in counseling pregnant and lactating women who have concerns about the possible effects of drugs and other agents on their developing babies and infants. Risk assessments based on a consensus of ratings by the authors and five internationally-recognized authorities in clinical teratology are provided for each agent in the book.
  • Gilstrap LC III, Little BB: Drugs and Pregnancy, 2nd ed. New York: Elsevier, 1998.  This book provides clinicians with useful guidelines for clinical evaluation and patient counseling as well as information regarding the reproductive effects of commonly-used medications, occupational agents, and substances of abuse.
  • Koren G. Maternal-Fetal Toxicology. A Clinician’s Guide, 3rd ed. New York: Marcel Dekker, 2001. - This book provides practical information for health care practitioners who counsel pregnant women regarding pregnancy exposures. In addition to briefly summarizing the relevant data on the teratogenic effects of various environmental and physical agents, the book includes a list of teratogen information programs. The editor’s approach to counseling pregnant women regarding teratogenic risks is also described.
  • Paul M: Occupational and Environmental Reproductive Hazards: A Guide for Clinicians. Baltimore, Md.: Williams & Wilkins, 1993. - This is a general review of the principles of reproductive and developmental toxicology, the research methods used to assess the reproductive toxicity of common occupational and environmental agents, and the clinical management of patients faced with such agents. In addition, information on the reproductive toxicity of commonly-encountered agents, such as organic solvents, video display terminals, and household chemicals is included.
  • Schaefer C, Peters P, Miller RK (eds): Drugs During Pregnancy and Lactation: Treatment Options and Risk Assessment, 3rd ed. Waltham, Mass.: Academic Press, 2015.
  • Schardein JL: Chemically Induced Birth Defects, 2nd ed. New York: Marcel Dekker, 1993. - This comprehensive reference book reviews available animal and human studies on the teratogenic effects of drugs and chemicals. Emphasis is placed on studies in which exposures took place during the period of organogenesis.
  • Scialli AR, Lione A, Boyle Padgett GK: Reproductive Effects of Chemical, Physical, and Biologic Agents. Baltimore, Md.: The Johns Hopkins University Press, 1995.  This book contains information on the reproductive toxicology of over 2800 physical and chemical agents. The summaries include information on the effects of these agents on male and female fertility and the infants of breast-feeding mothers as well as on embryonic and fetal development.
  • Shepard TH: Catalog of Teratogenic Agents, 13th ed. Baltimore, Md.: The Johns Hopkins University Press, 2010. - Shepard’s Catalog provides a comprehensive compilation of animal and human research on the teratogenicity of chemical and environmental agents. The Catalog contains information on over 3500 agents and includes many references for the Japanese as well as the American and European literature.
  • Zhonghua Yu Fang Yi Xue Za Zhi. 2015 Sep;49(9):831-4.  [The genetic toxicity and toxicology mechanism of metal nano materials].  [Article in Chinese]  Shen L1, Wang Z1, Zhou P2. 1Institute of Radiation Medicine, Military Medical Science of the PLA, Beijing 100850, China.
  • Yi Chuan. 2013 Jul;35(7):885-9.  [Cytogenetic analysis of 105 new human abnormal karyotypes].  [Article in Chinese]  Ou S1, Du J, Chen SK, Zheng CG, Meng DH, Zhang HY, Qiu QM, Liu TS, Tang B.  1Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, China. oushangenetics@yahoo.com.cn

 

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