The document summarizes newborn screening statistics in Kuwait for 2015. It provides data on the number of babies screened, diseases tested for, screening results, and screening performance indicators. In 2015, over 52,000 newborn screening samples were received and analyzed. Of those, 1,595 samples were identified as high risk, and further testing confirmed 114 babies were affected by various treatable conditions. The screening program successfully helped identify and treat affected newborns in a timely manner to prevent health issues.
A Rare International Dialogue (Saturday May 11, 2019)
Grassroots Strategies Across the Globe
Newborn screening and Comprehensive Care Program for Sickle Cell Disease in Ghana - Isaac Odame, The Hospital for Sick Children
A Rare International Dialogue (Saturday May 11, 2019)
Grassroots Strategies Across the Globe
Newborn screening and Comprehensive Care Program for Sickle Cell Disease in Ghana - Isaac Odame, The Hospital for Sick Children
On April 6, 2019, the EveryLife Foundation for Rare Diseases and Genetic Alliance hosted a workshop to provide education about the process of adding rare genetic conditions to the federal Recommended Newborn Screening Panel. Presentations include insights from national newborn screening experts in biochemical sciences, genetics, and political advocacy.
Multicenter screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks' gestation: comparison with NICE guidelines and ACOG recommendations
N. O'Gorman, D. Wright, L. C. Poon, D. L. Rolnik, A. Syngelaki, M. de Alvarado, I. F. Carbone, V. Dutemeyer, M. Fiolna, A. Frick, N. Karagiotis, S. Mastrodima, C. de Paco Matallana, G. Papaioannou, A. Pazos, W. Plasencia, K. H. Nicolaides
Volume 49, Issue 6, Pages 756–760
Slides prepared by Dr Fiona Brownfoot (UOG Editor-for-Trainees)
Read the free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17455/full
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
M. M. Gil, M. S. Quezada, R. Revello, R. Akolekar and K. H. Nicolaides
Volume 45, Issue 3, pages 249–266, March 2015
http://onlinelibrary.wiley.com/doi/10.1002/uog.14791/full
Developing normal placental growth curves using 2 d ultrasound in a zimbabwe ...TÀI LIỆU NGÀNH MAY
Để xem full tài liệu Xin vui long liên hệ page để được hỗ trợ
: https://www.facebook.com/thuvienluanvan01
HOẶC
https://www.facebook.com/garmentspace/
https://www.facebook.com/thuvienluanvan01
https://www.facebook.com/thuvienluanvan01
tai lieu tong hop, thu vien luan van, luan van tong hop, do an chuyen nganh
UOG Journal Club: Reassessing critical maternal antibody threshold in RhD alloimmunization: a 16-year retrospective cohort study
C. A. Walsh, B. Doyle, J. Quigley, F. M. McAuliffe, J. Fitzgerald, R. Mahony, S. Higgins, S. Carroll and P. McParland
Volume 44, Issue 6, pages 669–673, December 2014
http://onlinelibrary.wiley.com/doi/10.1002/uog.13383/abstract
Prevention of postpartum hemorrhage and hysterectomy in patients with morbidly adherent placenta: a cohort study comparing outcomes before and after introduction of the Triple-P procedure
M. Teixidor Vinas, A. M. Belli, S. Arulkumaran and E. Chandraharan
Volume 46, Issue 3, Date: September, pages 350–355
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.14728/full
On April 6, 2019, the EveryLife Foundation for Rare Diseases and Genetic Alliance hosted a workshop to provide education about the process of adding rare genetic conditions to the federal Recommended Newborn Screening Panel. Presentations include insights from national newborn screening experts in biochemical sciences, genetics, and political advocacy.
Multicenter screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks' gestation: comparison with NICE guidelines and ACOG recommendations
N. O'Gorman, D. Wright, L. C. Poon, D. L. Rolnik, A. Syngelaki, M. de Alvarado, I. F. Carbone, V. Dutemeyer, M. Fiolna, A. Frick, N. Karagiotis, S. Mastrodima, C. de Paco Matallana, G. Papaioannou, A. Pazos, W. Plasencia, K. H. Nicolaides
Volume 49, Issue 6, Pages 756–760
Slides prepared by Dr Fiona Brownfoot (UOG Editor-for-Trainees)
Read the free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17455/full
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
M. M. Gil, M. S. Quezada, R. Revello, R. Akolekar and K. H. Nicolaides
Volume 45, Issue 3, pages 249–266, March 2015
http://onlinelibrary.wiley.com/doi/10.1002/uog.14791/full
Developing normal placental growth curves using 2 d ultrasound in a zimbabwe ...TÀI LIỆU NGÀNH MAY
Để xem full tài liệu Xin vui long liên hệ page để được hỗ trợ
: https://www.facebook.com/thuvienluanvan01
HOẶC
https://www.facebook.com/garmentspace/
https://www.facebook.com/thuvienluanvan01
https://www.facebook.com/thuvienluanvan01
tai lieu tong hop, thu vien luan van, luan van tong hop, do an chuyen nganh
UOG Journal Club: Reassessing critical maternal antibody threshold in RhD alloimmunization: a 16-year retrospective cohort study
C. A. Walsh, B. Doyle, J. Quigley, F. M. McAuliffe, J. Fitzgerald, R. Mahony, S. Higgins, S. Carroll and P. McParland
Volume 44, Issue 6, pages 669–673, December 2014
http://onlinelibrary.wiley.com/doi/10.1002/uog.13383/abstract
Prevention of postpartum hemorrhage and hysterectomy in patients with morbidly adherent placenta: a cohort study comparing outcomes before and after introduction of the Triple-P procedure
M. Teixidor Vinas, A. M. Belli, S. Arulkumaran and E. Chandraharan
Volume 46, Issue 3, Date: September, pages 350–355
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.14728/full
Washington Global Health Alliance Discovery Series
Catherine Wilfert, MD [
December 1, 2008
'Global Prevention of Mother to Child Transmission of HIV-1'
Prospects for GBS prevention - current candidates & removing barriers to licensure of a GBS vaccine for pregnant women globally
https://www.meningitis.org/mrf-conference-2017
Gloria Folson and Futoshi Yamauchi
Side Event: How Japan’s know-how can help address food and nutrition challenges in the developing world
Tokyo Nutrition for Growth (N4G) Summit 2021
NOV 30, 2021
AN ANALYSIS OF OUTCOMES IN TWIN PREGNANCIES WITH ACTIVE FETAL SURVEILLANCE AN...Apollo Hospitals
The incidence of multiple gestations is increasing with
increasing maternal age and use of assisted reproduction
techniques. Selective fetal reduction of multifetal pregnancies is now widely practiced to reduce the higher order multiples to twins based on evidence from nonrandomised studies which suggests that this will improve the perinatal outcome. The proportion of twin pregnancies with unique fetal and maternal problems is therefore increasing. Optimising maternal, fetal and perinatal outcomes in twin pregnancies continues to be a formidable challenge in the present day clinical practice.
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
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.
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.
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
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
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
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.
Follow us on: Pinterest
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
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
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.
2. Introduction:
Newborn screening is a public health system made up of many different yet integral parts:
screening, diagnosis, management, evaluation and education.
The primary goal of newborn screening is the early identification of affected infants in time
to prevent serious health problems.
While all of the diseases tested for are rare and not usually apparent at birth, a collectively large
number of affected infants in Kuwait will be found to have these conditions every year but with
low incidence. Screening program can help these children to have the best start in life through
timely newborn screening, early diagnosis and treatment.
If the infant is screen positive, this does NOT mean that the infant has a disease; however, it does
mean that the infant has an increased chance to have a disease.
From June 2014 the screening panel expanded to include 22 diseases
Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemia (ASA synthase deficiency )
Tyrosinemia (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase (LCHAD)
Trifunctional Protein Deficiency (TFP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)
Galactosemia
Biotinidase Deficiency
Endocrine Disorders :
Congenital Hypothyrodism
Congenital Adrenal Hyperplasia
3. Total number of filter papers received for screening
Each year from 2005 to 2015
Year Total NO. of filter papers
2005 3029
2006 2547
2007 2438
2008 4714
2009 15287
2010 17692
2011 25228
2012 29779
2013 29517
2014 31987
2015 52789
4. Total No. of screened newborn in relation to total No. of
deliveries in Kuwait
This table show that the project in 2015 include only newborn of the governmental
hospital (from Jan. to Apr.) and about 80 % of private join the program from May
2015 . The target in “2016” to reach all hospitals (governmental and private) so as
to include 100% from baby born in Kuwait.
Total No. of delivery in Kuwait Total No. of screened at KMGC
“2015”
59,426
This last statistic available “2013”
Source: central statistical bureau in Kuwait
Received sample 52,789 about
38,000 baby
Total No. of screened
at KMGC
Total No. of delivery in
Kuwait
5. Total No. of received filter papers for screening each
month during period from 1/1/2015 to 31/12/2015
Total No. of filter papers: 52,789
Month Farwanyia
hospital
Adan
hospital
Jahra
hospital
Maternity
hospital
Private Total
Jan. 406 686 642 942 - 2676
Feb. 668 584 480 1002 3 2737
Mar. 726 659 448 1151 93 3077
Apr. 630 569 537 1186 924 3846
May. 516 599 843 1295 1642 4887
Jun. 828 578 479 1176 1589 4650
Jul. 856 556 456 1205 1885 4958
Aug. 912 657 442 1143 2171 5325
Sept. 967 607 542 1144 1842 5012
Oct. 860 600 511 1177 1891 5039
Nov. 870 770 526 1303 2085 5554
Dec. 750 587 469 1231 1991 5028
6. Total No. of filter papers received for screening from each
hospital during period from 1/1/2015 to 31/12/2015
Total No. of filter papers: 52,789
MATERNITY FARWANIYA ADAN JAHRA Private
13849 9458 7296 5587 16599
9. Gestational age distribution among
Informed high risk of (1595) screened
Gestational age No.
<37 weeks 595
33-37 weeks 568
>33 weeks 432
10. Informed high risk samples according to age papers
screenedAge No. %
≤1 day 596 30.4
2-4 days 636 39.9
4-7 days 158 9.9
<7 days 205 19.8
11. Total No. of cases informed as have high risk after
screening among 31987 filter papers screened
Result No. %
Informed “high risk” 1595 3 %
Normal “low risk” 51194 97 %
low riskhigh risk
51194
1595
12.
13.
14. Type of abnormality among 1595 informed as have high
risk after screening according to analyte which elevated
Method of
analysis
Elevated analyte No. %
Dissociation
Enhanced
Lanthanide
Fluorescence
Immuno
Assay
TSH 270 16.9
17αOH progesterone 260 16.3
Biotinidase def. 96 6
Galactosemia (classic
+galactokinase +galactoepimerase ) 15
0.9
Phenylketonuria +
hyperphenylalanemeia
88 5.5
Tandem mass
spectrometry
Lc/ms.ms
Citrullinemia + ASA 39 2.4
Homocystinuria+hypermethionemia 36 2.3
Tyrosinemia (I+II+III) 440 27.4
MSUD 25 1.7
PA+MMA+MCA 60 3.8
IVA 43 2.7
3HMG+BKT+MCD+MCC 65 4.1
Glutaric aciduria I 1 .06
MCAD 30 1.9
VLCAD 9 0.6
LCHAD+TFP 0
NON SPECIFIC ELEVATION TO MULTI
PARAMETERS (88% PRMATURITY )
118 7.4
Note:
These results show high false positive for multiple factors (as prematurity, feeding,
blood transfusion, drug exposure and else...) and further confirmatory tests need for
final diagnosis.
15. Screening performance indicator descriptions
indicator Description
Newborn N The total number of live births
Total + Total number of positive screens (positive=screening value
exceeds cutoff)
Confirmed + Number of positive cases that confirmed
False positive A positive screen infants that is not confirmed as a case of a disease
included in the NBS panel
Detection rate The number of infants having a confirmed disorder out of the total
number of the infants screened depicted as a ratio. one case per
“X” number of infants screened depicted as 1:”X”
FPR False positive rate: the number of infants with false positive
screens divide by the total number of infants screened expressed
as a percentage (%)
PPV Positive predictive value: the number of infants confirmed with
disease divided by the number of infants having positive screens
expressed as a percentage (%)
Sensitivity The number of true positive screens divided by the total number
of true positive and false negative screens
True positives / true positives + false negatives
Specificity The number of true negative screens divided by the total number
of true negative and false negative screens
True negative /(false negative + true negative )
18. In 2015, newborn screening efforts resulted in successfully
identifying and treating 114 newborns affected with
conditions in time to prevent problems associated with them:
2 babies with argininosuccinic acidemia (ASA)
2 babies with citrullinemia
43 babies with partial (treated) biotinidase deficiency (BIO)
6 babies with congenital adrenal hyperplasia (CAH)
31 babies with congenital primary hypothyroidism (CPH)
3 baby with classic Galactosemia
1 baby with homocystinuria
1 baby with long chain hydroxyl acyl-CoA dehydrogenase deficiency
(LCHAD)
2 babies with very long chain acyl-coA dehydrogenase deficiency
(VLCAD)
3 babies with methylmalonic acidemia (MMA)
1 baby with propionic acidemia (PA)
4 babies with phenyketonuria (PKU) + 2 benign hyperphenylalaninemia
3 babies with tyrosinemia type I and 9 babies with transient tyrosinemia
1 baby with maple surpe urine diasease MSUD
1 baby with 3methylcorotonyl CoA carboxylase deficiency MCC
19. Eqbal Sarkhouh
Chief Technician
Ahmed Al Ahmed
Lab Technician
Eman A.Karim
Lab Technician
Sadeq Sarkhouh
Lab Technician
Iqbal Baig
Lab Technician
Benson Stanly Thypattle
Lab Technician
Ghadeer Al Otaibi
Lab Technician
Nawaf Al Qashim
Lab Technician
Adnan
Lab Technician
Wali Sayed
Lab Technician
Shigo Pallissery
Lab Technician
Nawal Al Hashash
Senior in charge Chief Technician
Nafih Kp Abdul Kp
Lab Technician
Dr. Laila Bastaki
Head of Kuwait Medical Genetic Center
Dr.May Alroshood
Senior biochemistry
Dr.Amir Abdelazeam
Biochemistry Registrar
Lab
Team
Muzaffar Ali Baig
Lab Technician
Heba Bu Hamad
Lab Technician