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FORMAT DALAM REVIEW ORIGINAL ARTICLE

1. Judul Artikel :
Translational genomic research: the role of genetic polymorphisms in MBSR program
among breast cancer survivors (MBSR[BC])
2. Sumber artikel :
- Nama jurnal
o Translational Behavioral Medicine
- Afiliasi dari jurnal (universitas, asosiasi, dll)

Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana–

- Penerbit jurnal
o PubMed Central U.S. Department of Health and Human Services Public Access
- Indeks (Scopus, Thompson, Clarivate, dll)
o PubMed
- Editor jurnal dan kompetensi editor
o Eric J. Rubin, M.D., Ph.D. Spesialis Penyakit Infeksius
- Open/close access
o Open Access
3. Penulis artikel:
- Nama
o Florian Eichler, M.D., Christine Duncan, M.D., Patricia L. Musolino, M.D., Ph.D., Paul
J. Orchard, M.D., Satiro De Oliveira, M.D., Adrian J. Thrasher, M.D., Myriam Armant,
Ph.D., Colleen Dansereau, M.S.N., R.N., Troy C. Lund, M.D., Weston P. Miller, M.D.,
Gerald V. Raymond, M.D., Raman Sankar, M.D., Ami J. Shah, M.D., Caroline Sevin,
M.D., Ph.D., H. Bobby Gaspar, M.D., Paul Gissen, M.D., Hernan Amartino, M.D.,
Drago Bratkovic, M.D., Nicholas J.C. Smith, M.D., Asif M. Paker, M.D., Esther Shamir,
M.P.H., Tara O’Meara, B.S., David Davidson, M.D., Patrick Aubourg, M.D., and David
A. Williams, M.D.
- Afiliasi
o Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana–
Farber and Boston Children’s Cancer and Blood Disorders Center (C. Duncan, M.A.,
C. Dansereau, D.A.W.), and Boston Children’s Hospital, Harvard Medical School, and
Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P.,
E.S., T.O., D.D.) — all in Massachusetts; University of Minnesota Children’s Hospital,
Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los
Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street
Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust,
London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital
BicêtreHôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.);
Fundacion Investigar, Buenos Aires (H.A.); and Women’s and Children’s Hospital,
North Adelaide, SA, Australia (D.B., N.J.C.S.)
- Riwayat publikasi sebelumnya (3 publikasi terakhir oleh penulis pertama, bila ada)
o Magnetic resonance imaging detection of lesion progression in adult patients with
X-linked adrenoleukodystrophy
o Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked
adrenoleukodystrophy
o Hypoperfusion predicts lesion progression in cerebral X-linked
adrenoleukodystrophy
- Bidang penelitian atau keahlian penulis
o Spesialis Anak di Massachusetts General Hospital
o Laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy
Krieger Institute.
o Associate Professor of Neurology at Harvard Medical School
o Director of the leukodystrophy clinic at the Massachusetts General Hospital
4. Review Isi Artikel:
- Tujuan dan atau hipotesis (menurut Penulis artikel)
o The primary aim of the STARBEAM study is to assess the safety and efficacy of gene
therapy with the Lenti-D drug product in male patients 17 years of age or younger
who have cerebral adrenoleukodystrophy.
 Untuk menilai keamanan dan efektivitas terapi gen dengan obat Lenti-D
pada pasien pria berumur 17 tahun atau lebih muda yang menderita
Adrenoleukodystrophy.
- Kesenjangan dalam literatur yang ada dan bagaimana penelitian ini akan mengisi
kesenjangan tersebut (menurut Penulis artikel)
o Allogeneic transplantation is the only effective therapy for cerebral
adrenoleukodystrophy that has been identified to date, and it is more likely to be
effective if it is performed at an early stage of neurodegeneration.5–8 Among
symptomatic boys who have a high burden of cerebral white-matter disease at
diagnosis, the outcome of transplantation is often unfavorable.
 Adrenoleukodystrophy merupakan penyakin langka dan saat ini treatmen
yang ada hanya Allogeneic transplantation, itupun dengan masalah
efektivitas dan masih banyak yang gagal.
o Gene therapy with autologous hematopoietic stem cells has been investigated as an
alternative to allogeneic hematopoietic stem-cell transplantation.11–13 In the initial
proof-ofprinciple, single-center study, four boys with cerebral
adrenoleukodystrophy received autologous CD34+ hematopoietic stem cells
transduced ex vivo with a lentiviral vector CG1711hALD that contained ABCD1
complementary DNA (cDNA).
 Untuk itu peneliti mencoba meng-eksplor pilihan terapi lain yang mana
dalam jurnal ini dibahas mengenai gene therapy.
- Bagaimana metode dalam mencapai tujuan atau membuktikan hipotesis (termasuk desain
penelitian (observasional atau eksperimental), bagaimana data dikumpulkan, siapa yang
termasuk dalam sampel, instrumen yang digunakan, dan uji statistik yang dipilih).
o Metode
 Eksperimental
o Teknik pengumpulan data
 Eligibility was restricted to patients who had gadolinium enhancement on
magnetic resonance imaging (MRI) due to cerebral adrenoleukodystrophy
and had the following signs of early-stage disease: a score on the cerebral
adrenoleukodystrophy–specific neurologic function scale15 (which ranges
from 0 to 25, with higher scores indicating more severe deficits) of 0 or 1,
and a Loes score16 (which ranges from 0 to 34, with higher scores indicating
an increased extent of lesions on MRI) of 0.5 to 9.0.
 CD34+ cells that were obtained from the enrolled patients by means of
apheresis were transduced with the Lenti-D lentiviral vector. Cell trans-
duction was performed in accordance with Good Manufacturing Practice
conditions with the use of uniform and validated standard operating
procedures. Patients received conditioning with busulfan and
cyclophosphamide, after which the investigational drug product, which was
made up of the transduced CD34+ cells, was infused. In the primary clinical
study, the patients were followed for 2 years and then were offered
enrollment in a 13-year long-term follow-up study.
o Siapa sampelnya
 Between October 2013 and July 2015, a total of 17 patients, who were
between 4 and 13 years of age at the time of enrollment, received the
investigational gene therapy.
o Instrumen penelitian
 Observasi dan wawancara
o Apakah uji statistic yang dipakai
 Uji T
- Hasil penelitian secara ringkas
o Early results suggest that Lenti-D treatment is safe and has led to clinical
stabilization in a large proportion of patients in this study. At the time of data cutoff,
gene therapy was considered to be effective in 15 of the 17 patients who received
treatment; 1 patient had multiple major functional disabilities, and 1 patient
withdrew from the study. Most patients had stable neurologic function after Lenti-D
treatment
 Hasil awal penelitian menyimpulkan efek yang baik dan efektif dari gene
therapy. Tetapi masih dibutuhkan banyak penelitian lebih lanjut.
- Pembahasan menurut penulis artikel, tentang mengapa intervensi dalam penelitian
mempunyai efek dan apakah penelitiannya perlu dilanjutkan (bila eksperimen), atau
mengapa suatu fenomena berhubungan atau berpengaruh (bila observasional).
o Although the presence of gadolinium enhancement before treatment has been
clearly correlated with rapid disease progression, the kinetics of gadolinium
enhancement after clinically successful allogeneic transplantation are not well
understood. More data are needed to determine the importance of an evaluation of
gadolinium enhancement after treatment in the assessment of the treatment
response. Early results suggest that gadolinium enhancement does not appear to
correlate with clinical outcomes after treatment.
- Kritik dari penulis artikel tentang mengapa penelitian memberi hasil tidak sesuai dengan
yang diharapkan, dan apakah ada sesuatu yang tidak terduga mempengaruhi hasil
penelitian.
o In the analysis, outcomes were plotted as a function of the vector copy number in
the drug product. Worse clinical outcomes appeared to occur in patients who were
treated with a drug product that had a lower vector copy number
- Usulan penulis artikel tentang penelitian lanjutan atau langkah berikutnya.
o Longer follow-up and a larger sample size are required to confirm the low potential
for genotoxic effects and the clinical efficacy and safety of gene therapy with the
Lenti-D lentiviral vector.
5. Analisis dari Reviewer:
- Alasan artikel ini menarik untuk reviewer
o Adrenoleukodystrophy merupakan penyakit saraf yang langka dengan perburukan
yang cepat. Selain itu terapi yang ada saat ini masih berisiko besar dadn juga belum
sepenuhnya menghambat perburukan penyakit. Dengan diketahuinya ada obat
alternatif lain membuat penelitian ini menarik.
- Hubungan artikel ini dengan topik kuliah genetika
o Artikel ini membahas bagaimana sebuah virus dapat merubah struktur dari gen. Dan
dalam hal ini peneliti mencoba mengarahkan perubahan itu ke arah terapeutik
dengan hasil yang menjanjikan.
- Hubungan artikel ini dengan pendidikan dokter spesialis bedah.
o Pendidikan spesialis bedah tidak hanya membahas mengenai pembedahan. Dalam
artikel ini dijelaskan mengenai suatu penyakit yang penyembuhannya masih
membutuhkan Allogeneic transplantation yang mana merupakan tindakan
pembedahan. Tindakan pembedahan merupakan hal traumatic yang meskipun
tunjuannya adalah kesembuhan namun dalam prosesnya memiliki efek samping dan
resiko yang cukup besar. Bila kita dapat mengobati suatu penyakit dengan baik
sehingga pembedahan tidak perlu dilakukan dalam beberapa kasus, banyak
keuntungan yang didapatkan oleh pasien.

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