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Glaucoma and stem cells

Written by Dr. Lana du Plessis on . Posted in Client Articles.

During a study to identify genes involved in the formation of glaucoma, researchers came up with a novel idea to take skin biopsies from participants with and without glaucoma. These skin cells were reprogrammed to regress to stem cells and then directed to develop into retinal cells. More than 200,000 individual cells were sequenced to generate ‘molecular signatures’. Both healthy and diseased individuals showed 312 genetic variants associated with the target retinal cells. Further analysis identified 97 genetic clusters linked to the damage caused by glaucoma. In this way, the researcher will be able to identify underlying mechanisms, possible causes, and risk factors involved in glaucoma.

Researchers in Maryland identified stem cells in the region of the optic nerve, which sends signals from the eye to the brain. These progenitor stem cells secrete growth factors and other factors for the stem cells to grow and replicate. Eventually, the research team found the stem cells could be guided to differentiate into various different types of neural cells. Thus, through further studies to identify the critical growth factors that these cells secrete, they may be potentially useful as a cocktail to slow the progression of glaucoma and other age-related vision disorders.

In a breakthrough in November of 2022, a research team from the Department of Ophthalmology, Indiana University School of Medicine, used induced pluripotent stem cells (iPSCs) from patients with and without glaucoma as well as engineered human embryonic stem cells with glaucoma mutations. Using stem cell differentiated retinal ganglion cells (hRGCs) of the optic nerve, electron microscopy, and metabolic analysis, they identified that retinal ganglion cells from glaucoma patients suffer mitochondrial deficiency with more metabolic burden on each mitochondrion. This leads to mitochondrial damage and degeneration (mitochondria are the tube-like structures in cells that produce adenosine triphosphate, the cell’s energy source).

However, the process could be reversed by increasing mitochondrial regeneration by means of a pharmacological agent. The team showed retinal ganglion cells are highly effective in destroying bad mitochondria, but at the same time producing more to maintain homeostasis.

The fact that retinal ganglion cells with glaucoma produce more adenosine triphosphate even with less mitochondria was a breakthrough. But when triggered to produce more mitochondria, the adenosine triphosphate production load was distributed among more mitochondrion which restored the organelle physiology. Whether these mechanisms protect the optic nerve will first be studied in animal models under injury before testing in humans to hopefully lead to new clinical interventions.

Image: Courtesy of BY DAVID I. GREEN, BS, AND YVONNE OU, MD. MAY/JUNE 2015 GLAUCOMA TODAY

Reviewing all the above discoveries; future stem cell transplantation might hold promise for possible treatment for glaucoma, with at least two different approaches;  neuroprotection or replacement. Different transplanted stem cells, including retinal stem cells, neural stem cells and Mesenchymal Stem Cells (MSCs) have shown improved outcomes in glaucoma patients. The main mechanism of action seems to be due to neuroprotection linked to secreted factors and/or modulation of inflammation. However, scientists say, while stem cell transplant in glaucoma seems promising, further research is needed before it can become a standard treatment.

Image: Courtesy of BY DAVID I. GREEN, BS, AND YVONNE OU, MD. MAY/JUNE 2015 GLAUCOMA TODAY

Obesity the Silent Killer

Written by Dr. Lana du Plessis on . Posted in Client Articles.

Obesity has lasting effects on gene expression and cellular longevity of stem cells. Recent evidence is suggestive of a bi-directionality of stem cell damage in the “obese environment”, whereby obesity might encourage stem cell dysfunction, and these molecular changes in stem cells as well as the “stem cell niche” in which they occur, might further hasten the development of obesity and associated diseases. It is believed that this transmission can occur through multiple generations.

To illustrate this phenomenon, development in the uterus is a period of rapid growth and tissue transformation, at this stage of a fetus’ life they are vulnerable to any adverse influences which can later in life impact their health. Research suggests that infants that are fatter (have more “fat cells”) and show rapid weight gain after birth are at risk of developing childhood obesity and metabolic syndrome.  This is especially in infants born to obese mothers. Genetic predisposition to obesity, shared familial socioeconomic- and behavioral factors, and specific intrauterine effects are supposed mechanisms for these associations.

These results sustain the idea that interventions, specifically during pregnancy, are needed to disrupt the cycle of transgenerational obesity. Further evidence for this hypothesis was provided by researchers that used human umbilical cord-derived mesenchymal stem cells (UC-MSCs) to infuse into obese mice once per week for 6 weeks. They found that UC-MSCs elevated serum interleukin-10 and subsequently promoted macrophage diffusion, leading to the alleviation of insulin resistance. The UC-MSCs helped the Treg cells in the spleen to produce IL-10 which in turn exerted their effect by lowering insulin resistance.

Considering the pathological role of adipose stem cell aging in obesity, focusing on adipogenesis as an anti-obesity treatment, will be a key area of future research, and a strategy to revitalise tissue stem cells that are capable of improving metabolic syndrome.

Various ground-breaking treatments that scientists are proposing for treating obesity have emerged. One of the highlights is potential therapy whereby transplanting human brown-like fat cells, which are human white fat cells that have been genetically modified to become similar to heat-generating brown fat cells, have resulted in the reversal of obesity.

Another novel potential therapy discovered by Scientists at Queen Mary University of London is that by reducing the size of tiny hair-like structures on certain stem cells stops them from turning into fat. The discovery could be used to develop a way of preventing obesity. The researchers showed that during this process of adipogenesis, the length of primary cilia increases was associated with the movement of specific proteins onto the cilia. Furthermore, by genetically restricting this cilia elongation in stem cells the researchers were able to stop the formation of new fat cells.

Obesity is associated with reduced muscle mass and impaired metabolism. Epigenetic changes that affect the formation of new muscle cells may be a contributing factor. According to new research, it seems that in normal versus obese people, different genes were regulated during the maturation process and that methylation changes were significantly more common in subjects who were obese compared to non-obese people.

In obese individuals, the muscle stem cells have been reprogrammed, and this may to some extent explain why muscle cells in obese people have reduced insulin sensitivity and a slower metabolism after they have matured. The question arises; whether the methylations are caused by obesity or do the methylations increase the risk of becoming obese? This serious of events has not been elucidated yet.

Whilst our understanding of the interplay between adipose stem cell aging and adipose hypertrophy is increasing, there is still an unsolved fundamental question: which came first, the chicken or the egg?

The Sound of Progress

Written by Dr. Lana du Plessis on . Posted in Client Articles.

Currently it is estimated that deafness and hearing loss are widespread and found in every region and country. Currently more than 1.5 billion people (nearly 20% of the global population) live with hearing loss; 430 million of them have disabling hearing loss. About 2 percent of adults aged 45 to 54 have disabling hearing loss. One in eight people in the United States (30 million) aged 12 years or older has hearing loss in both ears, based on standard hearing examinations. Over 10 million people in the UK have some loss of hearing, that’s 1 in 6 of the population.

Treatment at present consists of hearing aids and in severe cases, a cochlear implant can be of benefit. However, current clinical trials utilizing human umbilical cord blood in animal models have demonstrated regrowth of hair cells and some improvement of the auditory brainstem reaction. These trials with animal models have now expanded into human trials. Currently there are only 11 clinical trials investigating the application of stem cells in hearing loss and one of these is investigating the application of cord blood for treatment of SHL. This trial is using an infusion of a child’s own cord blood stem cells to improve their hearing, inner ear function, and language development.

Damage to the auditory nerve or to the sensitive hair cells inside the inner ear is the ultimate cause of SHL. There are more than 25,000 hair cells  in the cochlea (an organ in the inner ear). These cells are critical to the process of hearing, for they distinguish and react to sound, by transmitting nerve signals to the brain. Sadly,  these hair cells are extremely sensitive and incapable of regeneration. Long term exposure to loud noises, aging, infections, and drugs can all cause long-lasting damage on these important structures.

Progress in stem cell research

The past few decades in stem cells’ role in SHL, research have focused on the ability of stem cells to develop and function as hair cells. The discovery of stem cells in the inner ears of mice, chicks, and zebrafish, have highlighted the fact that under the right conditions, the stem cells can develop into cells that are remarkably similar to hair cells in the inner ear.

The fact that birds and fish could regenerate these hair cells have led to the discovery that activation of a growth gene (ERBB2) pathway had resulted in a series of events that ultimately made cochlear support cells (the hollow tube in the inner ear) begin to multiply and activate other neighbouring stem cells to become new sensory hair cells.

Various research groups across the world have had promising results using stem cell therapy, although many of them are still in the investigative phase, a cure does not yet exist. These research groups include: Harvard Stem Cell Institute (HSCI), Stanford Medicine, Rutgers University, MIT, Brigham and Women’s Hospital, and Massachusetts- Eye and Ear clinic. They have all shown developments with stem cells and hearing loss. Scientists at Kyoto University in Japan have conducted research that may help with hearing loss and tinnitus. Another group of scientists have uncovered a single master gene that programs ear hair cells into either outer or inner ones, this will overcome major hurdles that had stopped the development of these cells to restore hearing.

The research technology varies from using induced pluripotent stem cells (iPS), adult cells, from a patient’s own skin that have been genetically reprogrammed to revert back to stem cells. These cells would be able to treat hearing loss by using the patient’s own cells. Other groups are producing human hair cells of the inner ear in a culture dish, or converting inner ear stem cells by expressing certain genes or growth factors into auditory neurons, or rebuilding cochlea’s structural support cells by re-engineering intestinal stem cells. All these different technologies have shown promising results and are currently being further investigated.

Whilst several limitations still exist for stem cell therapy in SHL, the role of stem cell in the treatment of hearing diseases has been widely recognized. With the advancement of new technologies in the Regenerative Therapy Field, stem cell therapy will play a greater role in the treatment of diseases related to the inner ear in the near future.

Cancer Awareness

Written by Dr. Lana du Plessis on . Posted in Client Articles.

At least one-third of all cancer deaths can be prevented through routine screening, early detection and treatment. More than 40% of cancer-related deaths are avoidable because they are linked to modifiable risk factors such as use of tobacco and alcohol, poor diet, and lack of exercise.

We wish to highlight some interesting facts about stem cells and cancer.

Cancer stem cells and tumour biology

Cancer stem cells (CSCs) are a particular type of tumour cell that can drastically influence the development and growth of cancer. Our knowledge of CSCs is important for treating cancer and improving cancer therapies. CSCs can self-regenerate and differentiate, and can potentially induce growth, and spread cancer in patients, which will often result in the recurrence of cancer in a patient.

The current aim of researchers is to find cancer drugs that can target and fight CSCs to treat cancer successfully.

Various approaches to target CSCs are being investigated, i.e., disrupting signaling pathways, targeting particular surface markers, or by using specific drugs; but all these methods are difficult because of genetic and epigenetic variation in patients, as well as sharing of similar pathways between normal stem cells and CSCs. Therefore, targeting CSCs remains restricted and at present is still a major challenge to scientists and researchers (1).

Stem cell innovations hold promise to improve cancer treatment.

Two new breakthroughs may help make cancer treatment more effective and reduce the time it takes for people to recuperate from radiation and chemotherapy.

Blood stem cells, like those found in the peripheral blood and bone marrow offer curative treatment in for instance leukaemia’s and lymphomas. However, this haematopoietic stem cell transplant (HSCT) method suffers from various problems, e.g., slow recovery, toxicity, degeneration of blood vessels and low blood counts. Scientists have found two recent technologies to overcome these challenges.

When bone marrow or peripheral blood transplants are done, these blood forming stem cells form only a small percentage of the cells that are transplanted. Thus, when people receive a transplant, these cells that must do the “work” are in the minority and the many other cells that do not help in regenerating the blood, are the majority of cells.

Scientists have now found a way to identify these cells and isolate them more efficiently. A protein called syndecan-2, occurs in high concentration on these haematopoietic stem cells’ surfaces. Blood stem cells that express syndecan-2 on their surface were able to repopulate and regenerate new blood cells, but those cells that lacked this protein, stopped replicating.

By using these syndecan-2 isolated cells, blood stem cell transplants will be more efficient and less toxic in future (2).

Another major discovery made during blood stem transplants; is where scientists discovered a protein that plays a significant role in killing damaged blood vessels in bone marrow after chemotherapy and radiation. This protein therefore plays a major role in bone marrow vasculature degeneration and the fall in blood counts after injury. Scientists found that by blocking this protein, called semaphorin 3A and its partner protein, neuropilin 1, that the blood vessels and blood cells in bone marrow rapidly regenerated and blood counts dramatically increased (3).

Therefore, by targeting this mechanism patients will recover quicker than with conventional methods.

Umbilical cord blood (UCB) is another source of autologous and allogeneic HSCT to treat various haematological disorders. The biggest restraint to using UCB-derived HSCs (UCB-HSCs), however, is the low numbers of HSCs in a unit of cord blood. In the past 5 to 10 years, scientists have overcome this by identifying various cytokines or small molecules to expand UCB-HSCs ex vivo (in culture). They found that various small molecules and combinations of small molecules can exert a cooperative effect and increase UCB-HSCs numbers and their transplantation outcomes (4).

New molecule produced by the human body can protect against Graft-versus-host disease (GvHD)

Acute Graft-versus-host disease (GvHD) is an aggressive complication after Leukemia or related cancer treatment with allogeneic (donor cells from another person) stem cell transplantation. GvHD occurs after transplantation when the immune cells are overly functional and harm the recipient’s healthy tissue. Researchers from Freiburg found that an endogenous molecule (produced in the human body) can relieve this harmful immune response. They found that giving human beta-defensin 2 (hBD-2) to mice with acute GvHD, significantly improved their GvHD and survival. Thus hBD-2 is now an interesting candidate for more studies and clinical trials and might be used as a preventative treatment in future allogeneic stem cell transplantation (5).

New Cancer vaccine that can kill and prevent brain cancer

A group of scientists at the Department of Neurosurgery at the Brigham and faculty at Harvard Medical School and Harvard Stem Cell Institute (HSCI) have developed a way to convert cancer cells them into cancer destroyers as well as vaccines. By gene engineering, they can repurpose cancer cells to develop a therapeutic that kills tumour cells and stimulates the immune system to both destroy primary tumours and prevent cancer. This two-fold cancer-killing and -prevention vaccine was tested in an advanced mouse model of the deadly brain cancer glioblastoma and will soon be tested in clinical trials (6).

These afore-mentioned research breakthroughs highlight the fact that further elucidation of the functioning of stem cells and their role in tumour biology is needed to continue developing new and innovative therapies for cancers.  

References

  1. Yu Z, Pestell TG, Lisanti MP, Pestell RG. Cancer stem cells. Int J Biochem Cell Biol. 2012 Dec;44(12):2144-51. doi: 10.1016/j.biocel.2012.08.022. Epub 2012 Sep 2. PMID: 22981632; PMCID: PMC3496019.
  2. Termini CM, Pang A, Li M, Fang T, Chang VY, Chute JP. Syndecan-2 enriches for hematopoietic stem cells and regulates stem cell repopulating capacity. Blood. 2022 Jan 13;139(2):188-204. doi: 10.1182/blood.2020010447. PMID: 34767029; PMCID: PMC8759530.
  3. Ethan M. Lotz, Michael B. Berger, Barbara D. Boyan, Zvi Schwartz.Regulation of mesenchymal stem cell differentiation on microstructured titanium surfaces by semaphorin 3A. Bone. 2020; 134: 115260.
  4. https://www.thelancet.com/journals/lanhae/article/PIIS2352-3026(19)30202-9/fulltext
  5. Tamina Rückert, et.al. Human β-defensin 2 ameliorates acute GVHD by limiting ileal neutrophil infiltration and restraining T cell receptor signaling. Science Translational Medicine, 2022; 14 (676).
  6. Zhao, T., Li, C., Ge, H. et al. Glioblastoma vaccine tumor therapy research progress. Chin Neurosurg Jl 8, 2 (2022). https://doi.org/10.1186/s41016-021-00269-7.

Preterm Birth Awareness

Written by Dr. Lana du Plessis on . Posted in Client Articles.

Preterm babies have a higher chance of developing respiratory, cardiovascular and neurological complications. Their lung, heart and brain inflammation and injury can often lead to life-long health problems, for example cerebral palsy, problems with breathing and heart disease and hypertension can also develop.

The most effective intervention to prevent preterm birth is the administration of a natural hormone, progesterone, in patients at risk for premature delivery. Two categories of patients have been eligible for this treatment: those with a short cervix and those with a previous preterm birth.

Umbilical cord blood and tissue stem cells benefits in preterm babies are still in early-phase clinical trials around the world. These stem cells are being used to treat birth asphyxia, chronic lung disease, congenital heart disease, and brain in premature babies.  

These stem cells in cord blood and cord tissue are simple and easy to collect at birth. They are available from the preterm baby and has the potential to be used to treat the preterm baby with their own stem cells, thus giving better recovery and healing.

Diabetes During Pregnancy

Written by Dr. Lana du Plessis on . Posted in Client Articles.

Some of the risk factors for Diabetes in pregnancy can be women with previous Gestational Diabetes, women with a family member with Type 2 Diabetes, women with twin or multiple births, glucose in the urine, and overweight women (linked to Type 2 Diabetes or Gestational Diabetes).  

All pregnant women are screened for Diabetes between 24 and 28 weeks of pregnancy. If the test is positive, the mother will be treated according to age, how healthy she is and the seriousness of the condition. The mother will be treated with limitations to her diet, exercise, blood glucose monitoring, insulin injections and oral hypoglycemia medication to keep the blood glucose in the normal range.

Complications for a mother with diabetes might include; preeclampsia (high blood pressure during pregnancy), more often insulin injections, very low blood glucose levels and keto-acidosis (where high levels of ketones building up in the body). In addition, women with Gestational Diabetes will often get Type 2 Diabetes later in life and also develop Gestational Diabetes in the next pregnancy.

Complication to the baby might include; preterm birth, stillbirth, birth defects, macrosomia (very large babies), which in itself may lead to birth injury due to the large size of the baby. After birth babies that are born to Diabetic mother’s might have hypoglycemia and trouble breathing.

Mother’s that have Diabetes during pregnancy are specially tested and monitored by fetal movement counting, ultrasound and doppler flow (to check the blood vessels, tissues, and organs as they function, and to look at blood flow through blood vessels), nonstress testing (measuring the heart rate response) and biophysical profile (a combination of the ultrasound, heart rate and amniotic fluid).

Therefore, careful planning before, during and after your pregnancy is of utmost importance. By listening to your GP and diabetes team, you can decrease the risk factors involved and ultimately enjoy a healthy pregnancy and give birth to a healthy baby.

How cord blood stem cells save lives

Written by Dr. Lana du Plessis on . Posted in Client Articles.

Approximately 1.24 million blood cancer cases occur yearly worldwide, accounting for roughly 6% of all cancer cases. Worldwide, almost every 4 minutes someone is diagnosed with a blood cancer and every 9 minutes, someone dies from a blood cancer. It is estimated that every year, about 18,000 people, aged between 0 – 74 years of age, might benefit from a potentially life-saving bone marrow or umbilical cord blood transplant. Worldwide there are currently about 50,000 stem cell transplants done yearly, with growth at a rate of 10-15% per year.

In the past 4 decades the recognition of stem cell treatments has drastically increased, mostly due to its high efficacy and recorded success rates of up to 80%. It is estimated that 1 in 3 people might one day benefit from regenerative cell therapy.

Cord blood stem cells save lives.

There are currently over 80 diseases approved for routine treatment with cord blood stem cells. In transplants cord blood stem cells helps rebuild a healthy blood and immune system that has been damaged by disease. There are some of the more than 80 diseases where a child could use his or her own cord blood. However, many of the diseases on the proven treatment list are inherited genetic diseases. Usually, a child with a genetic disease who is in need of a transplant would require a cord blood unit from a sibling or an unrelated donor. In this instance when a family has banked cord blood stem cells the matched sibling’s stem cells will be immediately available. Research indicates that transplants using cord blood from a family member are about twice as effective as transplants using cord blood from a non-relative.

Cord blood and cord tissue stem cells are being studied in regenerative medicine clinical trials for conditions that have no remedy. Families that invest in cord blood, cord tissue, and placental tissue banking are not just investing in the medicine of today—they have realised the potential of stem cell and regenerative medicine in the future. The healing potential of hematopoietic stem cells (HSCs) as found in cord blood is a long way from being exhausted. There are promising trials underway (over 1300 stem cell trials currently) with these cells that have the ability to continue the innovation in treatment that started with the first successful stem cell transplants many years ago.

These include stem cell treatments for some bone, skin and corneal (eye) injuries. These diseases can be treated by grafting or implanting tissues, and the therapy relies on stem cells within this implanted tissue. Some of these procedures are widely accepted as safe and effective by the medical community and are routinely used for treatment. However, various other diseases and applications of stem cells are yet to be proven in clinical trials and should be considered highly experimental. These unapproved treatments would benefit people that have autism, cerebral palsy, spinal cord injuries, type 1 diabetes, Parkinson’s disease, amyotrophic lateral sclerosis, Alzheimer’s disease, heart disease, stroke, burns, autoimmune diseases, cancer and osteoarthritis.

Parents endeavour to keep their children and family safe, especially when dreaded disease or an unforeseen medical condition occurs in a family. They want to be assured that there are accessible, effective treatments immediately available to the family.

Banking your baby’s cord blood offers you with life-giving stem cells and gives reassurance knowing that you can access your baby’s preserved stem cells at any time.

Cord Blood Transplants Have Been Proven Effective In Treating These Conditions:

Blood Disorders

  • Acute Myelofibrosis
  • Agnogenic Myeloid Metaplasia (Myelofibrosis)
  • Amyloidosis
  • Aplastic Anemia (Severe)
  • Beta Thalassemia Major
  • Blackfan-Diamond Anemia
  • Congenital Amegakaryocytic Thrombocytopenia (CAT)
  • Congenital Cytopenia
  • Congenital Dyserythropoietic Anemia
  • Dyskeratosis Congenita
  • Essential Thrombocythemia
  • Fanconi Anemia
  • Glanzmann’s Thrombasthenia
  • Myelodysplastic Syndrome
  • Paroxysmal Nocturnal Hemoglobinuria (PNH)
  • Polycythemia Vera
  • Pure Red Cell Aplasia
  • Refractory Anemia with Excess Blasts (RAEB)
  • Refractory Anemia with Excess Blasts in Transition (RAEB-T)
  • Refractory Anemia with Ringed Sideroblasts (RARS)
  • Shwachman-Diamond Syndrome
  • Sickle Cell Disease

Cancers

  • Acute Biphenotypic Leukemia
  • Acute Lymphocytic Leukemia (ALL)
  • Acute Myelogenous Leukemia (AML)
  • Acute Undifferentiated Leukemia
  • Adult T Cell Leukemia/Lymphoma
  • Chronic Active Epstein Barr
  • Chronic Lymphocytic Leukemia (CLL)
  • Chronic Myelogenous Leukemia (CML)
  • Chronic Myelomonocytic Leukemia (CMML)
  • Ewing Sarcoma
  • Hodgkin’s Lymphoma
  • Juvenile Chronic Myelogenous Leukemia (JCML)
  • Juvenile Myelomonocytic Leukemia (JMML)
  • Myeloid/Natural Killer (NK) Cell PrecursorAcute Leukemia
  • Non-Hodgkin’s Lymphoma
  • Prolymphocytic Leukemia
  • Plasma Cell Leukemia
  • Leukocyte Adhesion Deficiency
  • Multiple Myeloma
  • Neuroblastoma
  • Rhabdomyosarcoma
  • Thymoma (Thymic Carcinoma)
  • Waldenstrom’s Macroglobulinemia
  • Wilms Tumor

Immune Disorders

  • Adenosine Deaminase Deficiency (SCID)
  • Bare Lymphocyte Syndrome (SCID)
  • Chediak-Higashi Syndrome (SCID)
  • Chronic Granulomatous Disease
  • Congenital Neutropenia
  • DiGeorge Syndrome
  • Evans Syndrome
  • Fucosidosis
  • Hemophagocytic Lymphohistiocytosis (HLH)
  • Hemophagocytosis Langerhans’ Cell Histiocytosis (Histiocytosis X)
  • IKK Gamma Deficiency (NEMO Deficiency)
  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome
  • Kostmann Syndrome (SCID)
  • Myelokathexis
  • Omenn Syndrome (SCID)
  • Phosphorylase Deficiency (SCID)
  • Purine Nucleoside (SCID)
  • Reticular Dysgenesis (SCID)
  • Severe Combined Immunodeficiency Diseases (SCID)
  • Thymic Dysplasia
  • Wiskott-Aldrich Syndrome
  • X-linked Agammaglobulinemia
  • X-Linked Hyper IgM Syndrome
  • X-Linked Lymphoproliferative Disorder

Metabolic Disorders

  • Congenital Erythropoietic Porphyria (Gunther Disease)
  • Gaucher Disease
  • Hunter Syndrome (MPS-II)
  • Hurler Syndrome (MPS-IH)
  • Krabbe Disease
  • Lesch-Nyhan Syndrome
  • Mannosidosis
  • Maroteaux-Lamy Syndrome (MPS-VI)
  • Metachromatic Leukodystrophy
  • Mucolipidosis II (I-cell Disease)
  • Neuronal Ceroid Lipofuscinosis (Batten Disease)
  • Niemann-Pick Disease
  • Sandhoff Disease
  • Sanfilippo Syndrome (MPS-III)
  • Scheie Syndrome (MPS-IS)
  • Sly Syndrome (MPS-VII)
  • Tay Sachs
  • Wolman Disease
  • X-Linked Adrenoleukodystrophy

Further reading:

Burns Awareness and Prevention

Written by Dr. Lana du Plessis on . Posted in Client Articles.

  1. Cool a burn under cold running water for 10-15 minutes and call 10111 for serious burns.
  2. Always supervise children in the kitchen and dining areas.
  3. Create a “No Child Zone” while preparing and serving hot foods and beverages.
  4. Don’t carry or hold a child while cooking on the stove. Instead, place the child into a high chair or another safe area while cooking.
  5. Children love to reach, so to prevent hot food or liquid spills, simply use the back burner of your stove and turn pot handles away from its edge; also, keep hot foods away from the edge of your counters.
  6. Keep clothing from coming in contact with flames or heating elements.
  7. A small adjustment to your water heater can give you one less thing to worry about. To prevent accidental scalding, set your water heater to 48 degrees Celsius (120 degrees Fahrenheit) or the manufacturer’s recommended setting.
  8. Make a habit of placing matches, gasoline, and lighters in a safe place out of children’s reach and avoid novelty lighters as they may look like toys in a child’s eyes.
  9. When filling the bathtub turn on cold water first then mix in warmer water carefully.

Pippie Kruger

Written by Dr. Lana du Plessis on . Posted in Client Articles.

The medical director, Dr Barrett at Genzyme-Sanofi, a pharmaceutical company owns the rights to the technology known as Epicel. Epicel produces skin for people with extensive burn wounds by extracting stem cells from small patches of patients’ healthy skin. They are placed on a layer of inactive mice cells and fed with special proteins that allow them to grow into thin layers of skin that can cover burns. Epicel is indicated for adult and pediatric patients who have deep dermal or full-thickness burns comprising a total body surface area greater than or equal to 30%.

The skin was cultured in America and sent to Johannesburg on a 21-hour flight and working with plastic surgeon Ridwan Mia to ensure that it was transplanted to Pippie within three hours of arriving in South Africa.

The Epicel procedure is a costly procedure and luckily the Kruger family managed to raise more than R700 000 for the Epicel procedure through a trust fund that was started by a friend. With the help of  Facebook and almost 10 000 followers, this was accomplished. Pippie’s story has been told in 71 newspapers across the world and by many global radio and television stations.

Pippie now 13 is no stranger to the operating table. Since the disastrous burns accident she suffered as toddler, the young girl has been through a gamut of surgeries, and recently she had her 62nd operation.

Her mom, Anicè, for whom hospitals and air travel have become a way of life, believes this procedure has made a significant difference to her daughter’s quality of life.

Cord Blood Transplants Provide an Opportunity to Treat Blood Cancers

Written by Dr. Lana du Plessis on . Posted in Client Articles.

The test that’s used to identify appropriate donors is called HLA matching (human leukocyte antigen). HLAs are proteins that are present on most cells in your body. Your immune system uses HLAs to recognize which cells belong in your body. When using an adult donor, it’s important that the donor and the person undergoing the transplant have HLAs that match so the donor immune system doesn’t attack the patient’s normal tissues, a complication called graft-versus-host disease.

A person’s HLA type is inherited from their parents, which is why siblings offer the best chance of finding a match. People’s HLA type can be determined with a simple blood test or cheek swab. People of southern European, Asian, African, Hispanic, and Middle Eastern backgrounds tend to have more diverse HLA types. These types are less commonly found in adult volunteer donor registries. It can also be difficult for someone with a mixed background — for example, part Asian and part Hispanic — to find a donor who is a match. For them, cord blood transplants offer a good opportunity for a cure.

In the past 3 decades there have been more than 40,000 cord blood transplants performed internationally. These were mainly for leukemias, lymphomas and other blood-related disorders. Cord blood transplants offers a cure for blood related cancers in both children and adults.

Stem cell transplants with cord blood have been used to cure both children and adults with leukemia since the early 1990’s.

Why Cord blood for stem cell transplant may outperform a matched sibling donor:

A major benefit of cord blood is that the immune system of a newborn baby is not yet entirely developed. This means that the match that’s required between the cord blood stem cells and the person receiving them is less strict. Since umbilical cord stem cells are more “basic” than adult blood cells, they therefore need a lower level of matching than blood cells from an adult donor. Nevertheless, even though the cord blood immune system is very flexible, it can still develop into a healthy immune system. Cord blood cells are very good at combating cancer, this effect is called the graft-versus-leukemia and it can help prevent a person’s cancer from returning after their transplant.

The University of Colorado Cancer Center did an assessment of 190 patients getting cord-blood transplants versus 123 patients receiving transplants from the “gold standard” of matched sibling donors bone-marrow. Although the survival outcomes were the same between the two methods, considerably fewer complications were found in chronic graft-versus-host disease in patients receiving transplants from cord blood. The cord blood group also showed a slightly lower rate of relapse.

One challenge with cord blood cells is obtaining enough of these cells to perform a successful transplant, especially in adults.

To overcome this hurdle, double unit cord transplants from two different sources are transplanted.  The other alternative is to expand small samples of banked cord blood to the amount of stem cells needed for transplant.

All these above factors indicate that cord blood may even out-compete the gold standard of matched sibling donors.

Therefore, for people who don’t have a matched bone marrow or stem cell donor, a cord blood transplant may offer the best chance for being cured of blood cancer.

References:

  • Gale KB et al. 1997; Backtracking leukemia to birth: Proc Natl Acad Sci USA. 94(25):13950-4.
  • Janet D. Rowley 1998; Backtracking leukemia to birth: Nature Medicine 4:150-1.
  • Ballen KK, Verter F, Kurtzberg J 2015; Bone Marrow Transplantation 50(10):1271-8.
  • Filippo Milano, et al. 2016; Cord Blood Transplants Show Promise in Leukemia Treatment. NEJM 375:944-953.