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September 2017 -
Volume 15, Issue 7
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From the Editor

 
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In Memoriam
Professor Orhan Ekrem Müftüoglu
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Original Contribution / Clinical Investigation












 











































Cholelithiasis and cholecystectomy may lower the low density lipoprotein cholesterol in plasma
DOI:
10.5742/MEWFM.2017.93010
[pdf version]
Mehmet Rami Helvaci, Mursel Davarci, Orhan Veli Ozkan, Ersan Semerci, Abdulrazak Abyad, Lesley Pocock


Serum and follicular fluid vitamin D and follicular response among infertile women undergoing ICSI
DOI: 10.5742/MEWFM.2017.93011
[pdf version]
Sedighe Esmaeilzadeh, Maryam Aliasgharpour, Parvaneh Mirabi, Azita Ghanbarpour
Maede Fasihian

Studying the relation of quality of work life with socio-economic status and general health among the employees working in Students Welfare Fund of Ministry of Health and Medical Education in 2016
DOI: 10.5742/MEWFM.2017.93012
[pdf version]
Saeed Reza Azami, Nasrin Shaarbafchizadeh, Soheil Mokhtari, Ali Maher

On the Effect of Cognitive Behavioural Counseling on Sexual Satisfaction of Mothers with Autistic Children: A Randomized Clinical Trial
DOI:
[pdf version]
Leila Arbil, Mitra Kolivand, Farzaneh Golboni, Effat MerghatiKhoei, Mansour Rezaei

Pre-operative sublingual misoprostol and intra-operative blood loss during total abdominal hysterectomy: a randomized single-blinded controlled clinical trial
DOI: 10.5742/MEWFM.2017.93013
[pdf version]
Taravat Fakheri, Tayebe Noori

Investigating the Effect of Endotracheal Tube Cuff Pressure on Sore Throat, Hoarseness and Cough in Patients with Coronary Artery Bypass Surgery
DOI: 10.5742/MEWFM.2017.93014
[pdf version]
Ali Akbar Vaezi, Mohammad Hassan Mondegari Bamakan

Comparing the Self-Esteem and Resiliency between Blind and Sighted Children and Adolescents in Kermanshah City
DOI: 10.5742/MEWFM.2017.93015
[pdf version]
Saeedeh Bakhshi, Nafiseh Montazeri , Babak Nazari, Arash Ziapour, Hashem Barahooyi,
Fatemeh Dehghan

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Population and Community Studies

 

 

 

 

 

 

 






 

 










Frequency of Uric Acid Levels, Symptomatic and Asymptomatic Hyperuricemia among the Pakistani Population
DOI: 10.5742/MEWFM.2017.93016
[pdf version]
Waris Qidwai, Masood Jawaid

Determinants of Tooth Brushing among Primary School Students
DOI: 10.5742/MEWFM.2017.93017
[pdf version]
Mohammad Mahboubi, Mohammad Ismail Motlagh, Mehdi Mirzaei-Alavijeh, Farzad Jalilian, Hassan Gharibnavaz,
Mohammad Fattahi

Depression in patients suffering from gender dysphoria: The hospitalized patients of Legal Medicine Center in Southwest of Iran
DOI: 10.5742/MEWFM.2017.93018
[pdf version]
Zahra Gorjian, Mohammad Zarenezhad, Mohhamad Mahboubi, Saeid Gholamzadeh,
Nahid Mahmoodi

An epidemiological study of suicide attempts and to determine the correlation between attempted suicide causes and demographic characteristics of people in Kermanshah Province during a year
DOI: 10.5742/MEWFM.2017.93019
[pdf version]
Hamid Reza Shetabi, Samira Rostami, Mohsen Mohammadi, Mahsa Cheleii, Lida Saedi, Saba Amiri Nasab,
Shirin Zardui GolAnbari

The effectiveness of life skills training on happiness, mental health, and marital satisfaction in wives of Iran-Iraq war veterans
DOI: 10.5742/MEWFM.2017.93038
[pdf version]
Kamal Solati

The Role of Self-Compassion Factors in Predicting the Marital Satisfaction of Staff at Kermanshah University of Medical Sciences
DOI:10.5742/MEWFM.2017.93020
[pdf version]
Parisa Janjani, Lida Haghnazari, Farahnaz Keshavarzi, Alireza Rai

Mediating role of irrational beliefs in the relationship between the quality of family communication and marital satisfaction
DOI:10.5742/MEWFM.2017.93021
[pdf version]
Parisa Janjani, Khodamorad Momeni, Alireza Rai, Mohammad Reza Saidi

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Review Article



New Methods in Treatment of Renal failure in Patients with Multiple Myeloma: A Review with Immunological Approach
DOI: 10.5742/MEWFM.2017.93022
[pdf version]
Ali Saeedi-Boroujeni, Sara Iranparast, Majid Shirani

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International Health Affairs



Congenital anomalies: Overview and a brief report on promising new research
DOI: 10.5742/MEWFM.2017.93023
[pdf version]
Lesley Pocock, Mohsen Rezaeian, Majid Asadi-Samani, Alireza Seidavi, Mansour Nazari Chafjiri

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Education and Training































Investigating the Use of Smartphones for Learning Purposes by Iranian Dental Students
DOI: 10.5742/MEWFM.2017.93024
[pdf version]
Mohammad Shooriabi, Abdolreza Gilavand

The Effect of Educational Training on Nurses' Clinical Function of Cardiopulmonary Resuscitation
DOI: 10.5742/MEWFM.2017.93025
[pdf version]
Makieh Jokari, Zahra Gorjian

Comparison of the attitude toward stigma among the staff and students and faculty at Abadan School of Medical Sciences
DOI: 10.5742/MEWFM.2017.93026
[pdf version]
Mohammad Mahboobi, Saeid Gholamzadeh, Mohammad Zarenezhad, Zeynab Namadmaliani Zadeh, Nahid Mahmoodi

The effectiveness of sexual skills training with a cognitive-behavioral approach on sexual dysfunction among infertile women
DOI: 10.5742/MEWFM.2017.93038
[pdf version]
Nasrin Jalilian, Zahra Mokari

How to prepare a poster for a scientific presentation
DOI: 10.5742/MEWFM.2017.93027
[pdf version]
Maryam Rezaeian, Mahsa Rezaeian, Mohsen Rezaeian

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Clinical Research and Methods









































Adaptive LASSO Logistic Regression applied on gene expression of prostate cancer
DOI: 10.5742/MEWFM.2017.93028
[pdf version]
Amir Hossein Hashemian, Maryam Ghobadi Asl, Soodeh Shahsavari, Mansour Rezaei,
Hadi Raeisi Shahraki

The prevalence of brain and neck injuries in patients with maxillofacial fractures in teaching hospitals of Rasht in 2016
DOI: 10.5742/MEWFM.2017.93029
[pdf version]
Seyed Mohammad Talebzadeh, Ali Khalighi Sigaroudi, Babak Alijani, Safa Motevasseli,
Saied Dashtyari, Mahsa Shariati, Zeinab Davoudmanesh

Cultural competency: a concept analysis in TUMS (Tehran University of Medical Science) DOI: 10.5742/MEWFM.2017.93030
[pdf version]
Foruzan Khatamidoost, Mandana Shirazy, Hamid Khankeh, Nemat Allah Musapour
Majid Sadeghi, Kamran Soltani Arabshahi

The Effect of Proprioceptive Neuromuscular Facilitation (PNF) on Activities of Daily Living of client with Cerebrovascular accident
DOI: 10.5742/MEWFM.2017.93031
[pdf version]
Najafi Doulatabad Shahla, Afrasiabifar Ardashir, Parandvar Yaghoub

Evaluation of the ratio of T helper 17 and T regulatory cells in patients with chronic idiopathic urticaria
DOI: 10.5742/MEWFM.2017.93032
[pdf version]
Hossein Shahriari, Farahzad Jabbari, Seyyed Abdolrahim Rezaee, Houshang Rafatpanah
Majid Jafari, Reza Farid Hosseini, Majid Asadi-Samani

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Model and System of Primary Care




The Effect of Health System Development Plan on Reduction of First Cesarean in Kohgiluyeh and Boyer Ahmad in 2016
DOI: 10.5742/MEWFM.2017.93033
[pdf version]
Hajar Shokoohi Asl, Parviz Aghaei Barzabad, Abbas Yazdanpanah

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Case Series and Case Reports








<<Iran>>
Carbamazepine-induced toxic epidermal necrolysis treated with intravenous immunoglobulin and amniotic membrane: A case report
DOI: 10.5742/MEWFM.2017.93035
[pdf version]
Mohammadreza Mobayen, Abbas Darjani, Roghayeh Aghebati , Ramyar Farzan

<<Iran>>
Right Thoracotomy Beating Heart Technique in Emergency Re-Do Mitral Valve Surgery: Is it Still Justified?
DOI: 10.5742/MEWFM.2017.93034
[pdf version]
Hassan Mir Mohammad Sadeghi


Middle East Quality Improvement Program
(MEQUIP QI&CPD)

Chief Editor -
Abdulrazak Abyad MD, MPH, MBA, AGSF, AFCHSE

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Publisher -
Lesley Pocock
medi+WORLD International
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AUSTRALIA
Phone: +61 (3) 9005 9847
Fax: +61 (3) 9012 5857
Email
: lesleypocock@mediworld.com.au
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Editorial Enquiries -
abyad@cyberia.net.lb
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Advertising Enquiries -
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The contents of this journal are copyright. Apart from any fair dealing for purposes of private study, research, criticism or review, as permitted under the Australian Copyright Act, no part of this program may be reproduced without the permission of the publisher.

September 2017 - Volume 15, Issue 7

Congenital anomalies: Overview and a brief report on promising new research


Lesley Pocock (1)
Mohsen Rezaeian
(2)
Majid Asadi-Samani
(3)
Alireza Seidavi
(4)
Mansour Nazari Chafjiri
(5)

(1) Publisher and Managing Director, medi+WORLD International
(2) Epidemiology and Biostatistics Department, Occupational Environmental Research Center, Rafsanjan University of Medical Sciences, Rafsanjan, Iran.
(3) Student Research Committee, Shahrekord University of Medical Sciences, Shahrekord, Iran
(4) Rasht Branch, Islamic Azad University, Rasht, Iran.
(5) Welfare Organization of Rasht, Rasht, Iran

Correspondence:
Lesley Pocock
medi+WORLD InternationalAustralia
Email: lesleypocock@mediworld.com.au

Background


The release of Australian research earlier this month showing that potentially millions of babies can be prevented from miscarriage and neural tube and other congenital defects, through dietary interventions, has prompted us to provide a brief report on these results in the hope that the early dissemination of this information can be used by family doctors to reduce the burden of congenital anomalies for regional children and their families. Currently and prior to these new research results, approximately 50% of all congenital anomalies have not been able to be linked to a specific cause, though there are known genetic, environmental and other risk factors for many such defects. We have provided the outline of this new research and a review of current knowledge in the hope that it provides some insights into unidentified causes.


INTRODUCTION AND OVERVIEW

Congenital anomalies are intrauterine malformations of the foetus and may occur at any time during development. In developed countries where foetal and maternal screening is often conducted they may be discovered early; without such screening they are usually discovered via miscarriage or at birth. The prevalence of congenital anomalies and its pattern of distribution is different globally and regionally, being affected by a variety of factors, be they physiological, socio-economic, genetic or environmental. Global distribution of congenital anomalies has been shown in Figure 1.

Figure 1: Global distribution of congenital anomalies (2012) (1)


KEY FACTS

• Globally, an estimated 303,000 babies die every year within the first month of life due to congenital anomalies.
• Those babies who survive with congenital anomalies, can have lifelong disability.
• Some disabled children are abandoned at birth due to stigma and economic burden on poor families.
• Such disability also therefore becomes an economic burden on society.
• The most common and most severe of congenital anomalies are heart defects, neural tube defects and Down syndrome.
• It is estimated that about 94% of severe congenital anomalies occur in low- and middle-income countries. (1)

CAUSES AND RISK FACTORS

Most severe congenital anomalies occur in low- and middle-income countries (1).
The following summarises the major causes:

1. Diet and appropriate nutrition
Being born in a low income or developing nation can have an immediate effect on risk factors not only through malnourishment of the mother and consequently the foetus, but also lack of dietary requirements and inability to afford supplements.
1a. Folate
An adequate intake of folate in the peri-conceptional period has the capacity to prevent 70 per cent of all cases of Neural Tube Defects (NTD). Those women planning pregnancy are therefore in a position to avoid such defects by ensuring adequate supplies in their diet. For women unable to purchase folate supplements it is readily found in green leafy vegetables. The growing and eating of such vegetables is a cost effective way of avoiding NTD.

Neural tube defects include spina bifida, encephalocoele and anencephaly, and result from failure of the spinal cord or brain to develop normally during early foetal development. Less than 40 per cent of those affected survive to birth. People born with an NTD, especially those with spina bifida, will experience lifelong disability.

Pregnancy guidelines recommend that women of childbearing age take in 0.5mg of folic acid for at least one month before pregnancy and three months into the pregnancy. Women who are at high risk of having a baby with an NTD include those where a parent-to-be has spina bifida, has had a previous child with an NTD, has a close relative with an NTD, or where the woman has been treated for epilepsy. These women should take ten times the minimal dose (5mg of folic acid daily one month before pregnancy and three months into the pregnancy) (2).

1b. Vitamin requirements
Vitamin A deficiency may cause blindness while excessive vitamin A intake during pregnancy may affect the normal development of an embryo or foetus.

Risk of Vitamin D deficiency can be found in those with low exposure to sunlight (this may include Muslim women whose attire can prevent adequate sunlight exposure), in women with dark skin, and those with a pre pregnancy BMI 40. Vitamin D deficiency leads to a higher risk of pregnancy complications such as gestational diabetes, preeclampsia, preterm birth, and low birth weight (3).

The new Australian study outlined below shows that lack of Vitamin B may be the cause of many of the 50% of unexplained congenital anomalies.

The obvious conclusion from these studies is that pregnant women need to have a varied diet that covers all food groups, vitamins and minerals, to allow the foetus to gain all it needs for proper development. This obviates the necessity of nutritional guidelines and prenatal care being made available to all pregnant women globally.

2. Pre-natal care
Prenatal care should not only include guidelines as to a healthy diet for mother and foetus, but also the monitoring of foetal growth and mother’s health; for example, for cases of gestational diabetes, eclampsia and pre eclampsia . Mothers in low socio-economic areas may receive no pre-natal care at all, as well as be subject to a wider range of causative factors. In some developed countries the foetus or mother is screened for congenital and genetic disorders and aborted if found to be affected or a genetic carrier.

3. Vaccination, Infection and disease
A number of maternal diseases are known to cause congenital anomalies with the most common being syphilis and rubella. Rubella vaccination of women and girls occurs in most developed nations but is a more prevalent cause of congenital anomalies in low- and middle-income countries. More recently, the effect of in utero exposure to Zika virus has been reported and has had devastating congenital defects, such as severe microcephaly, subcortical calcification, congenital contractures and hypertonia, and is now prevalent in a wide range of countries that host the mosquito carrier (4).

4. Environmental risks
While there can be a wide range of environmental dangers to the developing foetus, such as infections and disease prevalence, maternal exposure to certain pesticides, chemicals, and medications (including traditional herbal mixtures), alcohol, tobacco and radiation during pregnancy, increases the risk of congenital anomalies. Working or living near, or in, waste sites, smelters or mines may also be a risk factor (1). These risk factors are more common in low and middle income countries.

5. Genetic factors
These can be inherited conditions such as anophthalmos, microphthalmos, coloboma, congenital cataract, infantile glaucoma, and neuro-ophthalmic lesions as examples.

Complicating inherited genetic disorders are issues of consanguinity. This can be a primary cause where consanguinity increases the prevalence of rare genetic congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual disability and other anomalies (5).

The high prevalence of consanguinity in some regional areas needs a thoughtful public health approach.

PREVENTION

Vaccination, appropriate diet, including adequate intake of folic acid or iodine through fortification of staple foods or supplementation, including the Vitamins groups discussed here, in addition to adequate prenatal care, are necessary prevention methods.

Doctors everywhere also need to be alert to viral outbreaks and higher incidence of anomalies in their patient populations, report such to health authorities and, ideally, investigate the causes (6).

REPORT ON AUSTRALIAN RESEARCH

Australian researchers in a 12 year study, have recently published evidence that supplements of vitamin B-3 can prevent many miscarriages and congenital defects (7).
A team of researchers has identified a key factor behind some miscarriages and congenital malformations of the heart, spine, kidneys, and cleft palate.

The Australian study evaluated the cause of a number of abnormal embryonic developments to a deficiency in nicotinamide adenine dinucleotide (NAD), a molecule that plays a key role in metabolic regulation. NAD is involved in energy production and boosting cell survival, as well as supporting DNA repair. However, NAD production canbe inhibited by some genetic factors, chronic diseases (such as diabetes), or an unhealthy diet, leading to NAD deficiency.

The study initially focused on families exhibiting a rare condition known by its acronym as “VACTERL.” This condition refers to people born with at least three of the following anomalies: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, or limb abnormalities.

The researchers found that a shortage of NAD in these families resulted in miscarriages or birth defects. They also concluded that NAD deficiency might therefore explain a wider range of miscarriage and congenital anomalies globally.

The research indicated that a relatively simple solution in preventing such disorders was ensuring required Vitamin B-3 intake. They found a key element in NAD synthesis is niacin, a vitamin B-3 complex available as a dietary supplement (7).

A sustained intake of B-3 complex supplements, the researchers suggest, can effectively prevent miscarriages and birth defects such as spina bifida and other vertebral segmentation malformations, as well as some heart and small kidney defects.

An earlier Australian study (8) found vitamin B-3 deficiencies in mothers already taking B-3 supplements. Appropriate intake of vitamin B-3 during the first trimester is a requirement for proper organ development in the developing foetus (8).

This may indicate that pregnant women require an even higher vitamin B-3 intake.

The Australian study evaluated the effect of niacin on developing embryos in a preclinical mouse model, and noted that, after the vitamin B-3 complex was appropriately introduced into the expecting mother’s diet, miscarriages no longer occurred. Moreover, all the babies were born healthy, with no congenital malformations. They used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations and tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. Variants were identified in two genes.

The researchers say that developing a test to measure levels of NAD in expecting mothers will come next. This will allow practitioners to identify which women risk miscarriage or delivering a baby with a congenital malformation, and who therefore need to take more B-3 supplements in pregnancy.

For the time being, expectant mothers should include Vitamin B-3 foods in their regular diet but only take B-3 supplements as advised by their doctors, as it is still unclear what exact doses of vitamin B-3 would help to prevent miscarriages and malformations in each case.

OVERVIEW OF NIACIN

The current required daily intake of Niacin (Vitamin B3) is 20mg (2).

Niacin or Vitamin B3 is an essential vitamin for human health that processes fat in the body, regulates blood sugar levels and lowers cholesterol levels. A deficiency of niacin causes symptoms of diarrhoea, dermatitis, dementia, inflammation of the mouth, amnesia, delirium, and if untreated, death. It is found in many foods (see Table 1).

Table 1: Niacin containing foods

Data Source: NHMRC (2).

REFERENCES

1. Congenital anomalies - WHO | World Health Organization. www.who.int › Media centre› Fact sheets
(Accessed August 22,2017)
2. National Health and Medical Research Council, Australia.
https://www.nhmrc.gov.au/_files_nhmrc/.../n55h_healthy_eating_during_pregnancy.pdf (Accessed August 22,2017)
3.http://www.kemh.health.wa.gov.au/development/manuals/O&G_guidelines/sectionb/1/b1.1.9.pdf
(Accessed August 22,2017)
4. Pocock L, Rezaeian M. Zika and virus evolution. Middle East J Family Med. 2016; 14(5) :19-26.
5. Tayebi N, Yazdani K, Naghshin N. The prevalence of congenital malformations and its correlation with consanguineous marriages .Oman Med J. 2010 Jan; 25(1): 37–40.
6. Pocock L, Rezaeian M. Virology vigilance - an update on MERS and viral mutation and epidemiology for family doctors. Middle East J Family Med. 2015; 13(5) :52-59.
7. Shi H, Enriquez A, Rapadas M, Martin E, Wang R, Moreau J, et al. NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017;377(6):544-52.
8. Mitchell PJ, Cooper C, Dawson-Hughes B, Gordon CM, Rizzoli R. Life-course approach to nutrition. Osteoporos Int. 2015; 26: 2723–2742.
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