This document provides information about a case of Leigh's syndrome. Leigh's syndrome is a rare genetic mitochondrial disease that affects the central nervous system. It typically begins in infancy and is fatal within a few years. The case discusses a 6-year old female patient with Leigh's syndrome who is unconscious and on a ventilator. Her medical history, lab results, medications, nutrition intake and output are presented. She receives enteral feeding via a nasogastric tube consisting of a fiber-containing formula. The document analyzes her nutritional status and assesses factors like her weight gain and intake.
Severe acute malnutrition
NELSON 2016 BASED LECTURE
BY
DR. AL HUSSEIN RAGAB ZAKY
Luxor International Hospital,EGYPT
Tel: 00201113033672-00201012727282
Facebook : Al Hussein Ragab
Food Protein-induced Allergic Proctocolitis to Multiple FoodsCorina Ardelean
Food Protein-induced Allergic Proctocolitis to Multiple Foods
Case of Study presented to the EAACI Food Allergy Training Course "Prevention and Treatment of Food Allergy" from Manchester, UK (14-16 September 2017)
Management of SEVERE ACUTE MALNUTRITIONRAVI PRAKASH
MANAGEMENT OF SEVERE ACUTE MALNUTRITION :-
DEALT WITH INVESTIGATION AND TREATMENT OF CHILD SUFFERING FROM SEVERE ACUTE MALNUTRITION, ESSENTIAL AND LATEST GUIDELINES FOR MANAGEMENT
Outcome of pregnancy among Pre-existing Type-2 Diabetic Womeniosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
PCOS IS THE THIEF OF WOMENHOOD........an enigmatic condition must be understood and managed according to the age it presents.......contact dr jaideep at jaideep malhotraagra@gmail.com for CME AND WORKSHOPS IN YOUR CITY
This seminar explores the potential connection between two inositol stereoisomers supplements and improvements in insulin sensitivity and various metabolic parameters.
15-minute power-point to present the research of a two-phase informative study that collected survey and qualitative data through a series of focus groups regarding the current description and future implications of PCOS multidisciplinary clinics while emphasizing the role, importance, and challenges for dietitians.
Severe acute malnutrition
NELSON 2016 BASED LECTURE
BY
DR. AL HUSSEIN RAGAB ZAKY
Luxor International Hospital,EGYPT
Tel: 00201113033672-00201012727282
Facebook : Al Hussein Ragab
Food Protein-induced Allergic Proctocolitis to Multiple FoodsCorina Ardelean
Food Protein-induced Allergic Proctocolitis to Multiple Foods
Case of Study presented to the EAACI Food Allergy Training Course "Prevention and Treatment of Food Allergy" from Manchester, UK (14-16 September 2017)
Management of SEVERE ACUTE MALNUTRITIONRAVI PRAKASH
MANAGEMENT OF SEVERE ACUTE MALNUTRITION :-
DEALT WITH INVESTIGATION AND TREATMENT OF CHILD SUFFERING FROM SEVERE ACUTE MALNUTRITION, ESSENTIAL AND LATEST GUIDELINES FOR MANAGEMENT
Outcome of pregnancy among Pre-existing Type-2 Diabetic Womeniosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
PCOS IS THE THIEF OF WOMENHOOD........an enigmatic condition must be understood and managed according to the age it presents.......contact dr jaideep at jaideep malhotraagra@gmail.com for CME AND WORKSHOPS IN YOUR CITY
This seminar explores the potential connection between two inositol stereoisomers supplements and improvements in insulin sensitivity and various metabolic parameters.
15-minute power-point to present the research of a two-phase informative study that collected survey and qualitative data through a series of focus groups regarding the current description and future implications of PCOS multidisciplinary clinics while emphasizing the role, importance, and challenges for dietitians.
En estas diapositivas encontraremos un breve resumen sobre la historia de la novela desde la edad media y hasta la edad moderna es un paseo fascinante para conocer mas acerca de la novela.
Gestational diabetes mellitus (GDM) is one of the most common medical complications of pregnancy and is defined as glucose intolerance that first emerges or is first recognized during pregnancy. Gestational diabetes mellitus (GDM) affects between 2% and 5% of pregnant women. Data show that increasing levels of plasma glucose are associated with birth weight above the 90th percentile, cord blood serum C-peptide level above the 90th percentile, and, to a lesser degree, primary cesarean deliveries and neonatal hypoglycemia
Our aim is to alleviate human suffering related to diabetes and its complications among those least able to withstand the burden of the disease. From 2002 to March 2017, the World Diabetes Foundation provided USD 130 million in funding to 511 projects in 115 countries. For every dollar spent, the Foundation raises approximately 2 dollars in cash or as in-kind donations from other sources. The total value of the WDF project portfolio reached USD 377 million, excluding WDF’s own advocacy and strategic platforms.
I presented a hyperemesis case for a Case Study Seminar where university faculty were invited to attend and RD\'s from the community could receive CPE\'s for attending.
Similar to Amana healthcare final case fatma alnuaimi (20)
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Pharynx and Clinical Correlations BY Dr.Rabia Inam Gandapore.pptx
Amana healthcare final case fatma alnuaimi
1. Internship Final Case
Leigh’s Syndrome
Name: Fatma S. Mohammed Al N’uaimi ID: 201150304
Preceptor: R.D. Rosario Coordinator: Dr.Habiba
FatmaSalimAlN'uaimi/201150304
1
3. Introduction
• Leigh’s Disease is a rare X-linked inherited
disease that effects the central nervous system
and consider the most sever mitochondrial
dysfunction.
• It is neurometabolic, which means it deals with
the nerves and metabolism.
• Begins normally in infants between the age of
three months and two years.
• Very rarely occurs in teenagers and adults, but
is possible.
FatmaSalimAlN'uaimi/201150304
3de Lonlay et al. Nature Genetics. 2012
Finsterer J et al. pediatrneurol.2008
4. Etiology
Mutations within the
mitochondrial DNA
FatmaSalimAlN'uaimi/201150304
4
Deficiencies in pyruvate
dehydrogenase enzyme.
de Lonlay et al. Nature Genetics. 2012
Finsterer J et al. pediatrneurol.2008
6. Signs and Symptoms
FatmaSalimAlN'uaimi/201150304
6
Motorcycle Skills
loss of sucking ability,
control of the head, and
motor skills.
Progressed symptoms
weakness, loss of muscle,
and lactic acidosis which
can later affect the
kidneys and lungs.
GI &
Neurological
Low appetite,
vomiting, crying,
and seizures.
Lactic acidosis
A condition
characterized by the
accumulation of lactic
acid in bodily tissues
de Lonlay et al. Nature Genetics. 2012
Finsterer J et al. pediatrneurol.2008
7. Prognosis
• The prognosis for Leigh’s Disease is very poor.
• Those for whom the condition is well progressed die within the first few years.
• Those with only partial deficiencies can live to six to seven years.
• Very few have lived to teenage years.
de Lonlay et al. Nature Genetics. 2012
Finsterer J et al. pediatrneurol.2008
8. Treatment
FatmaSalimAlN'uaimi/201150304
8de Lonlay et al. Nature Genetics. 2012
Finsterer J et al. pediatrneurol.2008
Vitamin B1
Serve as cofactor
Ketogenic Diet
Low CHO, High fat
-Sodium bicarbonate
-Sodium citrate
To help manage the lactic
acidosis.
10. Date of Visit : October 25, 2016
• Name: M.S.S
• Age:6 years old
• Gender: Female
• Nationality: Emirati
Social Related
• Occupation: Nil
• Educational level: Nil
• Economic status: Good economic status.
• Support systems: nil
FatmaSalimAlN'uaimi/201150304
10
11. Medically Related
• Patient Medical History: I interviewed the parents and the following information's were obtained.
-According to the Father: The patient was perfectly healthy until age 2 years with no signs or
symptoms; she collapsed and developed asthma. Admitted to TAWAM ICU; she had infection
in the tracheostomy, leg and UTI and the MD injected high dose of 3 types of antibiotics
ending up with coma.
-The physicians in U.S. informed the parents that she’s clinically died
• Family Medical History: DM, Grandmother.
• Family Genetic history: Nil genetic syndromes in the family or relatives; the genetic test
before marriage showed NO possible inherited diseases.
• Medications: before she collapsed nil medications were taken.
• Other practice:
-Father routinely do “ Hijama” for the patient.
FatmaSalimAlN'uaimi/201150304
11
12. Additional Information
• Multidisciplinary team: met the family they discussed with them regarding the harmful use
of herb, juices, milk for possible drug nutrient interaction. In addition bringing external
physicians from different healthcare facilities.
• Physiotherapy: according to speech-therapist; the additional session will cause more harm
to the condition.
• Pharmacist: Mindlinx multinutrient, Mindlinx Powder and Children's OmegaBerry provided
by the father form external center and the products NOT registered in Health Ministry.
FatmaSalimAlN'uaimi/201150304
12
13. Physical observation /Clinical symptoms
• Unconscious
• Mechanically ventilated
• Excessive Salivations
• Clogging in tube feeding
• Hormonal changes “ Early Puberty”: Enlargement of the breasts and monthly period
• Bowel Motion: passing bowel motion with the help of laxatives “ per nurse report”
• Urine output: passing good amount of yellowish urine“ per nurse report”
• GI: nil vomiting; nil nausea.
Other Information's
• The parents asked to have more physiotherapy sessions in TAWAM hospital.
FatmaSalimAlN'uaimi/201150304
13
14. Nutrition Related
• Recent weight change: According to the parents there’s weight fluctuation
• Food allergies/aversions: No known allergies
• The Father reused to insert PEG tube feeding instead of NGT.
• Dietary habits: the parents insisted to give her honey even with explanation for the
harmful use of simple sugar in her condition ” per dietitian report”
• The patient receives camel milk (20ml); orang, beetroot, Apple, and blue berry juices once
every alternative day or sometimes once a week in low dose “ per father report’
Enteral Feeding “Current Intake”
Route Nasogastric- NGT
Method of feeding Intermittent feeding
Formula Pediasure Fiber
Volume 680ml
Flushing water 20 ml pre/post feeding
Additional Additives camel milk powder 10ml + 10ml juices
FatmaSalimAlN'uaimi/201150304
14
16. Personal Information
• Name: K.S.I.
• Age: 6 years old
• Gender: Female
• Religion: Muslim
• Nationality: Emirati
• Social status: single
• Insure card: Daman Thiqa
Resident ID: LTMRH1081
FatmaSalimAlN'uaimi/201150304
16
18. Anthropometric Measurements
On 02.10.2016
Weight (kg): 26.7kg
Height (cm): 123cm
Compared to Ulna Length: 19 cm ( 122 cm)
Wiest Circumferences 21 cm
Weight (kg): 26.7kg
Weight for age(𝒑𝒆𝒓𝒄𝒆𝒏𝒕𝒊𝒍𝒆): Above 90th percentile
FatmaSalimAlN'uaimi/201150304
18
19. Date Weight (Kg)
02.08.2016 25.Kg
02.09.2016 23kg
* Due to sickness and low rate feeding
05.09.2016 26.9kg
02.10.2016 26.7kg
Weight Change
FatmaSalimAlN'uaimi/201150304
19
20. Energy Requirements
Total Energy (kcls) Using Krick Formula *
Birth-10 years: [EAR * LPAR*BTR*GRR]* Weight(kg) *
: (76)*(0.74)*(0.9)*(0.8)= 40.49 * 26.7kg
: 1081 kcal /day
NOTE: since the patient is gaining weight due to nature of the disease and with observation
giving full caloric need causing the patient to gain more weight; a 48% of total calories will
be provided. This intervention was discussed and approved by the physician.
Therefore: (1081 * 0.48) = 518.8 kcal/day
Protein needs (gm) 0.8-1.1g /kg = 0.8-1.1*26.7= 21- 29 g/day
Fluid needs (ml) 1500 + (20*6)= 1620ml
FatmaSalimAlN'uaimi/201150304
20
P.S. I contacted with several dietitians specialized in mitochondrial diseases (Queen’s university, New York; King
Saud University, KSA; and Tawam Hospital, UAE. The answer was there’s no dietary guidelines for mitochondrial
syndromes in general and only vitamin therapy are used to manage the complication of the disease.
* Adapted form nutritional requirements for children in health and disease 2000 London: Great Ormand street Hospital for Children NHS trust.
*EAR: Estimated average requirements / LPAR: physical activity ratio/ BTR: bone tone ratio/ GRR: Growth rate ratio
21. Current intake
• No Abdominal Distention
• Normal bowel movement with laxatives help.
FatmaSalimAlN'uaimi/201150304
21
Current Nutritional and GI status
• Diet History: the patient use to be in cyclic regimen then shifted to intermittent as per father order. The full
strength formula cased the patient abdominal distension and blotting. The formula modified to half strength
and sing of tolerance improved.
• Enteral feeding via NGT; intermittent with Pediasure Fiber and goal rate of 85ml/hr (42.5 ml) diluted in
42.5 ml Q3 (6,9,12,15,18,21,24,3)
• 20 cc flushing pre/post feeding Q3 (320ml total)
• 140 ml for medication + 250ml for Movicol
• 2scoops BeneFiber dissolved in 60ml q8 ( 6,14, 22) (60*3=180 )+ (20ml*3=60 ml flushing) / total= 240ml )
• 3scoops BeneProtein dissolved in 100ml q 24 (20ml flushing + 100ml = 120ml)
• 20 ml additives.
• 5 ml to dissolve 5ml (1 teaspoon) Honey.
22. NAME CLASS USE
Hyaluronic acid Anionic Used to treat dry eyes.
Ipratropium bromide Antiarrhythmic
Used for various bronchial disorders, in rhinitis, and wheezing.
Adverse effects can be increased when Ipratropium bromide is combined with Scopolamine.
Scopolamine Anticholinergic Used to prevent nausea and vomiting due to motion sickness
Levetiracetam Anticonvulsant Used for seizures
Calcium Carbonate antacid
Used for neutralizing hydrochloric acid in gastric secretions. Subsequent increases in pH may
inhibit the action of pepsin Or to treat hypocalcemia.
Esomeprazole Antiacidic A highly effective inhibitor of gastric acid secretion used in the therapy of stomach ulcers
3% Sodium Chloride Salt Used for dehydration.
Movicol Adult
Diazepam
Laxative Used to relieves constipation
Fluticasone Anti-inflammatory
Nasal spray is indicated for the treatment of the symptoms of seasonal and perennial allergic
rhinitis in patients aged 2 years and older.
Omega-3 Antioxidant
Used in the treatment of anemia. Involved in the regulation of erythrocyte differentiation and
the maintenance of a physiological level of circulating erythrocyte mass.
Multivitamins - Used to correct any deficiencies
Mindlinx Powder Probiotics Used to maintain the integrity and health of the intestinal track. “Lactobacillus acidophilus”
Cholecalciferol Vitamin D3
For the treatment of vitamin D deficiency or insufficiency, familial hypophosphatemia and
hypoparathyroidism, and in the management of hypocalcemia and renal osteodystrophy
Medications
23. LAB VALUES : Blood Gases
22.09.2016 Normal Range
pH 7.4 7.35-7.45
pCO2 42 42-48 mmHg
pO2 149 35-45 mmHg
HCO3 28 20-27 mmol/L
tCO2 28 23 to 29 mEq/L
BE 2 -2.0- 2.0 mEq/L
SpO2 99 94% to 99%
iCa 1.31 1.10-1.30 mmol/L
HIGH LOW Normal ** No Data Provided
FatmaSalimAlN'uaimi/201150304
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24. Lab Values: General Chemistry
22.10.2016 Normal Range
Sodium LVL 135 136-145mmol L
Potassium LVL 4.2 3.6-5.1mmolL
Chloride LVL 103 101-111 mmol/L
Calcium 2.42 2.23-2.60 mmol/L
Creatinine 27 44-88micromol/L
Urea level 4.4 2.9–7.1 mmol /L
Total protein 70 61-79
Bili Total 5.3 5.0-21.0 micmol/L
Bili Direct <1.7 1.7- 8.6 micmol/L
Albumin 37 35-48 IU/L
Alk Phos 119 118-360 IU/L
AST 19 15-41 IU/L
ALT 17 14-54 IU/L
Iron Lvl 10.3 5.0-30.4 micromol/L
Transferrin 2.34 1.90- 2.80 g/L
Glucose Lvl 5.3 3.9- 6.1 mmol/L
HIGH LOW Normal ** No Data Provided
25. Lab Values: Complete Blood Count
CBC 22.10..16 Normal Range
WBC 8.6 4.5 – 11.0 *10^12/L
RBC 4.63 3.80- 5.10 *10^12/L
Hgb 105 117-155 g/L
Hct 0.33 0.33-0.41 L/L
MCV 71.9 81-100fL
MCH 22.7 25–31 pg
MCHC 315 320-360 g/L
Platelet 221 140-400x 10^9/L
HIGH LOW Normal ** No Data Provided
26. Intake and output “last 24 hours”
Total intake
including; NG feeding, flushes, medications 1690ml
Total output 912 ml
Balance 778ml
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27. .10.2016 NORMAL RANGE
Oral Temperature 36.3 36-38.1 degC
Systolic Blood pressure 113 90-140 mmHg
Diastolic Blood Pressure 77 60-90 mmHg
Respiratory On Trichotomy ; room air
Skin Integrity Nil Ulceration ; Nil edema
Activity level Bedridden
GCS (Glasgow Coma Scale) 7/15
Bowel motion Soft ; nil constipation
GI Nil vomiting , nausea episodes ; excessive salivation
Assessment &Vital Sign
HIGH LOW Normal ** No Data Provided
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29. FatmaSalimAlN'uaimi/201150304
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Anthropometric assessment
• % weight change= (23−26.7)/23×100= -16%
weight Significant gain during 1 months.
Possible justification due to fat malabsorbtion.
Reference: Sucher, Kathryn P.; Nelms, Marcia; Roth, Sara Long; and Lacey, Karen, "Nutrition Therapy and Pathophysiology" (2011).
Patient BMI classification above 90
precentral:
OVERWEIGHT
Yet due to patient’s length her
weight considered normal
30. Signs and Symptoms Assessment
• Salivations on of side effects of the disease
• Clogging tin tube feeding due to camel milk powder.
• Yellowish urine indicates that patient is hydrated well.
• Regarding the GI, without the laxatives and fiber the patient will suffer from constipation
as a normal side effect of the disease. the enteral neural plexus may all be affected, leading
to gastrointestinal tract manifestations, namely those involving disorders of peristalsis.
Physical Activity Assessment
• Patient Bedridden
FatmaSalimAlN'uaimi/201150304
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31. Dietary Habit Assessment
• About Children's OmegaBerry: an emulsified fish oil with tropical
fruit & berry concentrates.
No further information form trials or medical associations regarding the cost-
effectiveness of this supplement.
To view the product label and allergen information click here
(http://www.biocare.co.uk/content/BC/docs/labels/723150.pdf?LoadIntoBrowser=True)
Contains blackcurrants, blueberries, chokeberries and elderberries which are a good source of
proanthocyanadins
The liquid form makes it especially suitable for children and those who have difficulty or prefer not to swallow
capsules
Emulsified using our unique BioCare® BioMulsion® process, dramatically increasing the bio-availability of the
oils
Naturally concentrated and pre-digested using our patented NEO-3™ process, utilising lipase enzymes
Utilises our 'Multox' antioxidant system for enhanced stability
Provides fish oil from anchovies and sardines and is free from detectable PCBs and contaminants
Great tasting fish oil liquid for children
Palatable and easy to mix into water or fruit juices
Product Information per Daily Intake
INGREDIENT AMOUNT PROVIDING % EC
NRV
Fish Oil Concentrate 1.28g Providing 250mg EPA & 190mg DHA
Wild Berry Concentrate 565mg (Providing Blackcurrant, Elderberry, Blueberry, Chokeberry &
Apple)
Natural Mixed Tocopherols 15mg
In a base of: Orange, Mango, Banana, Vanilla &
Pineapple
Ingredients:
Fish Oil Concentrate, Pineapple Juice Concentrate, Fructose, Water, Wild Berry Concentrate, (Chokeberry, Apple,
Elderberry, Blueberry & Blackcurrant), Modified Corn Starch, Mango Puree, Orange Juice Concentrate, Banana
Puree, Pineapple Flavour,, Antioxidants (Natural Mixed Tocopherols, Citric Acid & Ascorbic Acid), Acacia Gum,
Sunflower Oil, Vanilla Flavour, Xanthan Gum, Preservative (Potassium Sorbate).,
32. Dietary Habit Assessment
• About Mindlinx Powder: High potency live bacteria supplement
with added glutamine particularly useful for children.
No further information form trials or medical associations regarding the cost-
effectiveness of this supplement.
Additional Information
To view the product label and allergen information click here
(http://www.biocare.co.uk/content/BC/docs/labels/58360.pdf?LoadIntoBrowser=True)
High potency powder that can easily be mixed into food or liquid, ideal for those unable or who prefer not to take
capsules or tablets
Vacuum packed to maintain stability
Dairy free
Glutamine is the most abundant free amino acid in human muscle and plasma
Mindlinx® utilises transient bacterial strains as well as the LAB complex of proprietary strains
LAB has been tested extensively
An encapsulated version of Mindlinx® is also available
Product Information per Daily Intake
INGREDIENT AMOUNT PROVIDING % EC
NRV
L Glutamine 1000mg
Fructooligosacharides 500mg
Lactobacillus acidophilus 40mg (Providing 6 billion viable proprietary bacteria of CUL 60 and
CUL 21 strains)
Bifidobacterium bifidum (CUL 20) and bifidobacterium lactis
(CUL 34)
6mg (Providing 2 billion viable proprietary bacteria of CUL 20 strain)
Lactobacillus rhamnosus 20mg (Providing 8 billion viable proprietary bacteria)
4
4A study suggested that glutamine shows negative side effect in mitochondrial disease
patients. It can destroy the neurons' mitochondria. When glutamine enters into the
mitochondria, it reacts with water and yields excess ammonia which lead to
encephalopathy. And other studies shows the opposite .
Halim MA1, Almatarneh MH, Poirier RA.et al. J Phys Chem B. 2014
33. Dietary Habit Assessment
• About Mindlinx multinutrient: Multinutrient powder is a combination of vitamins and
minerals for children, with a high concentration of B vitamins, magnesium and zinc, in a tasty,
easy to take, powder form.
This multivitamins dose not contain iron supplementation only folic acid.
34. FatmaSalimAlN'uaimi/201150304
34
Per 25g
-Caloris:118 Kcal
-CHO: 19.50g
-prt.: 6 g
Per 10ml
-Caloris:11.8Kcal
-CHO: 1.95g
-prt.: 0.6 g
Per 100ml
-Caloris:46 Kcal
-CHO: 11g
-prt.: 0.1g
Per 10ml
-Caloris:4.6 Kcal
-CHO: 1.1g
-prt.: 0.01g
Per 100ml
-Caloris:54 Kcal
-CHO: 12.5g
-prt.: 0.3g
Per 10ml
-Caloris:5.4 Kcal
-CHO: 1.25g
-prt.: 0.03g
Per 100ml
-Caloris:57 Kcal
-CHO: 12.4g
-prt.: 0.5g
Per 10ml
-Caloris:5.7Kcal
-CHO: 1.24 g
-prt.: 0.05 g
*Nutrition label for the juices (Hollinger juices) and camel milk. Beetroot juice cannot be assessed because the family prepare it at home.
35. Feeding Assessment “Current”
• Formula prescription: Enteral feeding via NGT; intermittent with Pediasure Fiber1.0 kcal
and goal rate of 85ml/hr (42.5 ml formula diluted in 42.5 ml water) q3 (6,9,12,15,18,21,24,3).
Flushing water 20ml pre/post feeding
- Patient meeting 48.8% of her caloric requirements. Due to additive and weight gain it’s impossible to reduce feeding further and to cut
of the additives. Regarding the protein and the fluids, the patient met all her requirements.
- The juices casing abdominal distention for the patient. Once it’s stopped it’s the symptoms is no longer shows
- Camel milk powder causing the tube feeding to clot which may lead to inadequate enteral feeding infusion.
*Taking the average for nutrition content.
FatmaSalimAlN'uaimi/201150304
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Formula BeneProtein Benefiber
ADDITIVES
Flushing Consumed
Estimated
needs
% of meeting
requirements
Camel
Milk
powder
10ml
Honey
5ml
Juices
10ml *
Calories
‘Kcal’
680 75 90 11.8 20 5.2 - 528 kcal 519kcal/day 48.8%
Protein ‘gm’ 10.5 18 0 0.6 - 0.03 - 29g 21-29g/day 100%
Fluid ‘ml’ - 120 240 10 5 10 710 1775ml 1620ml/day 100%
36. Laboratory Assessment
On October 6th , 2016
• Low Creatinine level are not common, but it can be seen with conditions that result in
decreased muscle mass.
• Low (Hgb, MCV, MCH, MCHC) indicates iron deficiency anemia and/or thalassemia. Other
justification for low iron store could be due to Hijama.
• Normal PH, high pO2 and High HCO3) indicates metabolic alkalosis. Respiratory
compensation causes an increase in PCO2; therefore the condition is metabolic alkalosis with
shifting the body from metabolic acidosis.
• Slightly High iCa level indicates possible excess vitamin D intake
• Low Bili direct level are usually not a concern but may indicate hypoxia.
FatmaSalimAlN'uaimi/201150304
36
37. NAME Interactions
Hyaluronic acid -
Ipratropium bromide Fast/pounding heartbeat, difficult/painful urination.
Scopolamine
-The administration with grapefruit juice may delay the absorption and increase the bioavailability of oral
scopolamine. The proposed mechanism is delay of gastric emptying.
-Blurred vision; chest pain or discomfort; difficulty with urinating; dilation of the pupils; eye pain; muscle
weakness; nausea or vomiting.
Levetiracetam
-Take without regard to meals. Food does not affect bioavailability.
-The serum concentration of Levetiracetam can be increased when it is combined with Scopolamine.
Calcium Carbonate Food increases the absorption of calcium carbonate.
Esomeprazole Take without regard to meals.
3% Sodium Chloride -
Movicol Adult -
Fluticasone
High dosages have been associated with precipitation or aggravation of angina, myocardial ischemia, cardiac
arrhythmias and hypertension.
Omega-3 -
Multivitamins -
Mindlinx Powder -
Cholecalciferol -
FatmaSalimAlN'uaimi/201150304
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Food- Drug Interactions
38. PES Statement
• Overweight (NC-3.3) related to metabolic dysfunction as evidenced by BMI above 90th
percentile.
• Non adherence to nutrition related recommendations (NB-1.6) related to disbelief in science
based nutrition information's secondary to desire for a cure for a chronic condition through the
use of alternative therapy as evidenced by adding camel milk, juices and herbs to the tube
feeing
FatmaSalimAlN'uaimi/201150304
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40. Goals of Nutrition Therapy
• Goals of nutrition intervention include the following:
1. Provide adequate enteral nutrition feeding via NGT.
2. Age appropriate weight gain and liner growth.
3. Nutrition reinforcement for parents.
4. Adherence to nutrition recommendation for parents.
FatmaSalimAlN'uaimi/201150304
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41. Nutrition Intervention
• Formula prescription: Enteral feeding via NGT; intermittent with Pediasure Fiber1.0 kcal
and goal rate of 85ml/hr (42.5 ml formula diluted in 42.5 ml water) q3 (6,9,12,15,18,21,24,3) .
Flushing water 20ml pre/post feeding
- Ensure patient's head is elevated 30-45degrees from horizontal whilst enteral feeding plus additional 30 to 60 minutes
after to prevent aspiration
- *Taking the average for nutrition content.
FatmaSalimAlN'uaimi/201150304
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Formula BeneProtein Benefiber
ADDITIVES
Flushing Consumed
Estimated
needs
% of meeting
requirements
Camel
Milk
powder
10ml
Honey
5ml
Juices
10ml *
Calories
‘Kcal’
680 75 90 11.8 20 5.2 - 528 kcal 519kcal/day 48.8%
Protein ‘gm’ 10.5 18 0 0.6 - 0.03 - 29g 21-29g/day 100%
Fluid ‘ml’ - 120 240 10 5 10 710 1775ml 1620ml/day 100%
42. Follow-up
• Growth and weight change trends. ( monthly)
• Family compliance with nutrition recommendations “reinforcement”
• Monitor Labs and body gases (monthly) or as needed.
Recommendations
Discussed with the Dr.Javed to consider the following:
• To manage Thalassemia: iron / folate. *
*Keeping in mind if iron overload occurs, avoid using multivitamin and mineral
supplements that contain large amounts of iron and vitamin C.
FatmaSalimAlN'uaimi/201150304
42
44. Follow-Up1: 27.10.2016
• Discussed with family the option to reduce the dose of juices and milk and they agreed on that.
• Patient had a dental appointment and physiotherapy session at TAWAM hospital .
• I asked the nurse regarding the update and no progress regarding the condition.
• Bowel motion: changed 2 dippers for the last 24hrs.
• Total intake: 1725ml / Total output: 1063ml / Balance: +662 ml
Follow-Up2: 30.10.2016
• During the weekend the patient went for family visit.
• The parents reduced the amount of additives form 10 to 5 ml as agreed.
• The nurse found redness around the tracheotomy and neck.
• Bowel motion: passed long 2 motion with right after giving laxatives “ per nurse and mother report”
• Total intake: 1730ml / Total output: 1523ml / Balance: 207 ml
45. Follow-Up3: 31.10.2016
• Reinforce the family regarding the amount of additives they add.
• Ask the family to inform the nurse about the mount added so the total intake will be accurate and
medical team will be informed about any practices by the family which will ensure a effective medical
and nutritional therapy for the patient.
• Reinforce the father about how important to find a gray area with the multidisciplinary team and work
together for the sack of his daughter health.
• Bowel motion: changed 2 dippers for the last 24hrs.
46. DISCHARGE PLAN
AMANA “long-term” Healthcare protocol:
Patient under palliative care; continuous of care will be taking and
no discharge plan unless if the patients will go abroad for treatments
per family request.
48. A. Karaa et al. Molecular Genetics and Metabolism (2016)
• Objective: to better understand the landscape of dietary supplement use by MD patients. We assessed the
types and doses of supplements used by patients with MD and whether any subjective improvements have
been noted
• Study Design: online comprehensive questionnaire
• Method: The survey was directed at patients and parents of patients who are or have been on dietary
supplements (2-3 weeks) and included 20 questions divided into four parts.
• Part 1 queried the primary mitochondrial disease diagnosis and symptoms that impacted patients the most.
• Part 2 explored the nature of the dietary supplements used, their side-effects, their cost and whether their use had
impacted any of the symptoms they described as most bothersome.
• Part 3 assessed whether other adjunct therapies were used to treat mitochondrial disease and, if so, whether they
contributed to symptoms improvement.
• Part 4 evaluated patient satisfaction with dietary supplements use, cost and financial burden incurred if paying out-of-
pocket.
FatmaSalimAlN'uaimi/201150304
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The dietary supplement online survey was completed by 162 respondents: 59% were patients and
41% caregivers of patients with mitochondrial disease
49. FatmaSalimAlN'uaimi/201150304
49
The three most represented diseases were:
20% mitochondrial myopathy
10.7% complex I deficiency
10.7% chronic progressive ophthalmalgia
More than half of the patients
Mitochondrial DNA disease such as
MELAS (5.6%), Leigh Syndrome
(4.4%) and MERRF (4.4%) were
also well-represented
“The survey did not specifically ask about the genetic mutations for each subject, provided
diagnoses are self-reported"
A. Karaa et al. Molecular Genetics and Metabolism (2016)
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Q: How many dietary supplements have you/your
child been taking?
75% of patients reported taking four or more supplements at
once.
11% of patients reported taking only one supplement.
The most commonly used supplements included:
42.5% coenzyme Q10
36% L-carnitine
26.5% riboflavin
24% vitamin D
15% vitamin C
In total, 25 different supplements were being used by
patients with mitochondrial disease in various combinations
that were almost unique to each patient.
68 out of the 162 respondents reported other over-the-
counter products that they were regularly using to treat their
symptoms
A. Karaa et al. Molecular Genetics and Metabolism (2016)
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72% reported no side-effects.
Among the 36 patients who reported having side-
effects attributed to the dietary supplements.
47% Nausea and upset stomach
36% Unpleasant or increased body odor
8% Vomiting
17% Diarrhea
Strategies used to minimize side-effects:
21% Decrease in dose
11.5% Altering timing of supplement intake
17% Intake with food
10% Combining the supplements
8% Changing brands
“There would be no definitive method to attribute a side effect to a specific supplement
in these cases especially when some patients were not only on supplements but also on
other prescribed medications concomitantly.”
A. Karaa et al. Molecular Genetics and Metabolism (2016)
53. • Objective: exploring the use of nutritional interventions in primary mitochondrial disorders (PMD) and
identifying knowledge gaps regarding their safety and efficacy; identifying research opportunities; and
forging collaborations among researchers, clinicians, patient advocacy groups, and federal partners.
• Study Design: workshop sponsored by the National Institutes of Health (NIH), the Wellcome Trust, and the
United Mitochondrial Diseases Foundation.
• Method:
FatmaSalimAlN'uaimi/201150304
53
The workshop focused on nutritional interventions that have a regulatory definition rather
than on general nutrition related topics such as the macronutrient composition of the diet
or mode of delivery, such as whether taken by mouth or via a gastrostomy tube.
K.M. Camp et al. Molecular Genetics and Metabolism (2016)
54. FatmaSalimAlN'uaimi/201150304
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A randomized, double-blind, placebo-controlled, crossover study that included 17 patients with a
definitive or probable diagnosis of mitochondrial disease
Methods: subjects were administered a combination of 3 compounds (3 g creatine monohydrate plus
300 mg alpha-lipoic acid plus 120 mg CoQ10) twice daily for 2 months following a 5-week washout
period. All patients were then given placebo for 2 months.
Treatment was statistically significantly associated with lower resting lactate concentrations, prevention
of loss of strength at the ankle, improved fat-free mass.
Patients with MELAS showed the greatest improvement with the combination therapy, suggesting that
one therapeutic strategy may not benefit all mitochondrial diseases.
Reports from clinical trials
M.C. Rodriguez, J.R. MacDonald, D.J. Mahoney etal Muscle Nerve (2007).
55. FatmaSalimAlN'uaimi/201150304
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A review of clinical trials for mitochondrial disorders it has been noted
that anecdotal reports do not allow evidence-based conclusions for
therapy with nutritional interventions. In addition, the controlled clinical
trials that have been performed were viewed as weak, with studies on
five or fewer patients or inadequate supplement dose.
A uniform multisupplement therapy for mitochondrial therapy is not a reasonable
approach for a variety of reasons. Perhaps most importantly, a single approach to
treating hundreds of different diseases is not likely to be effective. Moreover, the
approach is expensive, and most of the cost is borne by the patients themselves.
Regimens including multi- ple medications and dosing patterns are only able to be
carried out by highly motivated parents or patients. Finally, aside from “n of 1” cases,
opportunities to judge clinical efficacy are limited. These challenges lead to a
conundrum for clinicians. Anecdotal reports of efficacy provide hope to patients, but the
regimens seldom meet therapeutic goals. Ex- pansive use of vitamins also sometimes
is viewed as suspect by physi- cians not routinely involved in treating mitochondrial
disease, especially if the patient does not have genetic proof of their illness.
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There is a lack of consistency in what is, and what should be included in combination
supplements and there is also a lack of evidence regarding the effectiveness of dietary
supplements used in MD.
Dietary Supplements are not regulated as drugs and are not required to
conform to the same premarket evaluation process as drugs
There is limited understanding of the bene- fits and risks associated with long-
term dietary supplement use.
Issues related to access to dietary supplements include insurance coverage
and the high costs to patients and families.
Nutritional Challenges and Opportunities
The issue for conducting researches is recurrent patient due to extreme
heterogeneity in these conditions.
K.M. Camp et al. Molecular Genetics and Metabolism (2016)
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Nutritional Challenges and Opportunities
Biomarkers, outcome measures, and
endpoints
A key question facing researchers in the field
of MD is: What bio- markers for monitoring
disease exist and are feasible and clinically
useful ?
Clinical trial design
There’s a need to evaluate any intervention
critically with regard to the inclusion criteria
and stratification of subjects, dose and
duration of treatment, and study endpoints.
K.M. Camp et al. Molecular Genetics and Metabolism (2016)
Standards of clinical care for patients with MD
Some clinicians are using the keto- genic diet, yet little
is known about how it should be incorporated for
those with refractory epilepsy, and there are questions
regarding its safety for patients with mitochondrial
disease in general.
58. Nutrition Implications
Until establishing a standard of care, nutrition
implication will be limited to use dietary
supplements use with caution
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Pyruvate dehydrogenase complex is a complicated enzyme with multiple components and regulators. It is responsible for converting pyruvate to acetyl CoA in the mitochondrial matrix. The malfunction of PDC will decrease the available fuel, acetyl-CoA, for mitochondria. Consequently, fewer ATPs can be produced and pyruvates are shunted to lactate production pathway, increasing lactate level.
Pyruvate dehydrogenase (E1) is a component of PDC, and its subunit E1α is encoded by PDHA1, locating on the X chromosome. Mutations in PDHA1 are most often associated with PDC deficiency, and the corresponding Leigh syndrome shows an X-linked inheritance pattern. This condition is also known as X-linked Leigh syndrome
Respiratory Chain Defects
e respiratory chain (see Figure 26.5) is made up of five com- plexes that undergo changes in their oxidative state to produce ATP (adenosine triphosphate). Carbohydrates are eventually metabolized to pyruvate, which will then enter into the Krebs cycle. Electrons generated from the Krebs cycle and from beta- oxidation of fatty acids are used in the production of energy via the complexes of the respiratory chain. Defects affecting several of the individual complexes have been identified. ese defects lead to decreased energy production in various tissues, and subsequently to clinical symptoms, such as hypotonia, devel- opmental delay, and failure to thrive. Attempts to facilitate the function of the respiratory chain through the administration of pharmacological doses of several vitamins and nutrients have resulted in limited success thus far.6
-ketogenic or other high fat diets are not recommended for long-term consumption due to the potential for cardiovascular risks, such as ischaemic heart disease and other atherosclerotic issues.
- there is no definite treatment for mitochondrial disorders. e use of dietary intervention may help alleviate some of the symptoms and/or delay progression of the disease, but will not prevent the debilitating effects of the disorder. erapy for defects of the respiratory chain entails the use of vitamin cofactors in pharmacological amounts equal to approximately 100 to 1000 times the DRI for age to enhance the activity of the various complexes. Riboflavin and thiamin serve as cofactors, while vitamin E and lipoic acid are used to protect
Figure 26.5 Respiratory Chain Pathway
Table 26.14 Recommended Cofactor Doses for Mitochondrial Disorders
Cofactor Suggested Dosing Range
Coenzyme Q10
5–15 mg/kg/day
Vitamin K
40–80 mg/day
Vitamin C
0.25–4 g/day
Vitamin E
400–1200 IU/day
Selenium
50–100 μg/day
Thiamine
25 mg/day
Riboflavin
25 mg/day
Pantothenate
25 mg/day
Carnitine
50 mg/kg/day
Source: Marriage B, Clandinin MT, Macdonald IM, Glerum DM. Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disor- ders. Mol Genet Metab. 2004 Apr:81(4):263–72.
A review of clinical trials for mitochondrial disorders it has been noted that untrustworthy reports do not allow evidence-based conclusions for therapy with nutritional interventions. In addition, the controlled clinical trials that have been performed were viewed as weak, with studies on five or fewer patients or inadequate supplement dose.