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Gene therapy: An updated overview on the promising success stories

Rashid RA, Ankathil R

Malays J Pathol, 2020 Aug;42(2):171-185.
PMID: 32860369

Gene therapy is a method of treatment of disease aimed at its molecular level. The progress of gene therapy, however, was as promising as it was tardy mainly due to the limitations in the resources and financial part of its development as well as owing to the rarity of most diseases it can offer its benefits to. The methods of gene therapy can vary depending on factors such as the physiology of tissue of interest, affinity of vectors to a certain type of cells, depth and accessibility of the tissue of interest, and size of the gene to be replaced or edited. The concept behind gene therapy has inspired scientists and clinicians alike leading to a rapid expansion of its clinical utility that has become so widespread to not only include diseases of monogenic origin, but also polygenic diseases, albeit not so commonly. This article delves into notable success stories of gene therapy which has been regarded as the beacon of medical novelty expected to blossom in the near future to provide a holistic, targeted, precise, and individualistic personalised-medicine as well as laying out the future hopes of gene therapy in the treatment of debilitating diseases such as solid tumours, AIDS, Tuberculosis, Diabetes Mellitus, psychiatric illnesses, which are still at a standstill, from a gene therapy point of view.

Matched MeSH terms: Leber Congenital Amaurosis/therapy
Congenital nasal cavity stenosis in children with craniosyntosis: A report of 4 rare cases

Liew YT, Soo SS, Nathan AM, Manuel AM

Auris Nasus Larynx, 2017 Oct;44(5):635-638.
PMID: 27793496 DOI: 10.1016/j.anl.2016.10.001

Congenital bony nasal stenosis (CBNS) is a very rare but life-threatening cause of airway obstruction in neonates and infants. This review aims to assess the presentation and early airway management of 4 new cases of craniosynostosis with bilateral nasal cavity stenosis. Patients were treated with endoscopic endonasal widening of the nasal cavity and stenting. All patients were extubated well post-operatively with resolution of symptoms. They remained asymptomatic with stents in situ for at least 6 months with no complications reported. Minimally invasive endoscopic endonasal widening of the nasal cavity with stenting is an effective and safe way of addressing nasal cavity stenosis.

Matched MeSH terms: Nasal Obstruction/congenital*
THE VALUE AND MANAGEMENT OF PERSISTENT KAHN POSITIVE IN TREATED SYPHILIS

SAMBHI JS

Med J Malaysia, 1963 Sep;18:19-24.
PMID: 14064291
Matched MeSH terms: Syphilis, Congenital*
A review of radiation hazards with special reference to diagnostic radiology

Ang AH

Med J Malaysia, 1973 Dec;28(2):75-9.
PMID: 4276302
Matched MeSH terms: Congenital Abnormalities/etiology
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, et al.

J Clin Neurosci, 2020 Feb;72:468-471.
PMID: 31831253 DOI: 10.1016/j.jocn.2019.12.007

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis.

Matched MeSH terms: Myasthenic Syndromes, Congenital/genetics*
Comparison of distortion product otoacoustic emission (DPOAE) and automated auditory brainstem response (AABR) for neonatal hearing screening in a hospital with high delivery rate

Ngui LX, Tang IP, Prepageran N, Lai ZW

Int J Pediatr Otorhinolaryngol, 2019 May;120:184-188.
PMID: 30844634 DOI: 10.1016/j.ijporl.2019.02.045

INTRODUCTION: Congenital hearing loss is one of the commonest congenital anomalies. Neonatal hearing screening aims to detect congenital hearing loss early and provide prompt intervention for better speech and language development. The two recommended methods for neonatal hearing screening are otoacoustic emission (OAE) and automated auditory brainstem response (AABR).
OBJECTIVE: To study the effectiveness of distortion product otoacoustic emission (DPOAE) and automated auditory brainstem response (AABR) as first screening tool among non-risk newborns in a hospital with high delivery rate.
METHOD: A total of 722 non-risk newborns (1444 ears) were screened with both DPOAE and AABR prior to discharge within one month. Babies who failed AABR were rescreened with AABR ± diagnostic auditory brainstem response tests within one month of age.
RESULTS: The pass rate for AABR (67.9%) was higher than DPOAE (50.1%). Both DPOAE and AABR pass rates improved significantly with increasing age (p-value<0.001). The highest pass rate for both DPOAE and AABR were between the age of 36-48 h, 73.1% and 84.2% respectively. The mean testing time for AABR (13.54 min ± 7.47) was significantly longer than DPOAE (3.52 min ± 1.87), with a p-value of <0.001.
CONCLUSIONS: OAE test is faster and easier than AABR, but with higher false positive rate. The most ideal hearing screening protocol should be tailored according to different centre.

Matched MeSH terms: Hearing Loss, Sensorineural/congenital
Pulmonary atresia with intact septum: the use of Conquest Pro coronary guidewire for perforation of atretic valve and subsequent interventions

Alwi M, Budi RR, Mood MC, Leong MC, Samion H

Cardiol Young, 2013 Apr;23(2):197-202.
PMID: 22640635 DOI: 10.1017/S1047951112000595

Objective: To determine the feasibility and safety of the Conquest Pro wire as an alternative to radiofrequency wire for perforation of atretic pulmonary valve and subsequent balloon dilatation and patent ductus arteriosus stenting in patients with pulmonary atresia with intact ventricular septum.
Background: Radiofrequency valvotomy and balloon dilatation has become the standard of care for pulmonary atresia with intact ventricular septum in many institutions today.
Methods: We report eight consecutive patients in whom we used the Conquest Pro coronary guidewire, a stiff wire normally reserved for revascularisation of coronary lesions with chronic total occlusion, for perforation of atretic pulmonary valve and subsequent balloon dilatation, and stenting of the patent ductus arteriosus.
Results: Perforation of atretic pulmonary valve was successful in seven out of eight cases. Radiofrequency valvotomy was employed after failure of perforation by the Conquest Pro wire in one case where the right ventricular outflow tract was broad based and tapered towards the pulmonary valve, and was heavily trabeculated. Failure of the Conquest Pro wire to perforate the pulmonary valve plate was mainly attributed by the failure to engage the wire at the correct position.
Conclusion: The Conquest Pro wire for perforation and subsequent interventions in the more straightforward cases of pulmonary atresia with intact ventricular septum is effective and safe, simplifying the entire procedure. However, the radiofrequency generator and wires remain essential tools in the paediatric interventional catheter laboratory.

Matched MeSH terms: Heart Defects, Congenital/surgery*
Fulltext Skeletal union following long bone reconstruction using vascularised fibula graft

Imran Y, Zulmi W, Halim AS

Singapore Med J, 2003 Jun;44(6):286-7.
PMID: 14560858

Thirteen patients had skeletal reconstruction using vascularised fibula graft following resection of the diseased bone. Eleven patients had reconstruction of the lower limbs and two patients of the upper limbs. Clinical and radiographical evidence union were achieved with the average time of 32 weeks (earliest eight weeks). Six out of 11 patients (54%) in lower limb reconstruction started weight bearing at the average of 27 weeks. Bony union in this study is comparable with other studies using vascularised fibula graft.

Matched MeSH terms: Pseudarthrosis/congenital
Fulltext Twin reverse arterial perfusion sequence

Nik Lah NA, Che Yaakob CA, Othman MS, Nik Mahmood NM

Singapore Med J, 2007 Dec;48(12):e335-7.
PMID: 18043831

Twin reverse arterial perfusion sequence occurs in approximately one percent of monochorionic twins. This condition is always fatal for the recipient twin and carries a high mortality rate for the pump twin. Various treatment options are described, but management is continually evolving with the publication of new data. We report an acardiac acephalic monochorionic twin who was diagnosed at 31 weeks gestation. Serial ultrasonographical examinations of the normal pump twin showed intrauterine growth restriction but with no evidence of heart failure. A healthy pump twin was delivered by caesarean section at 34 weeks.

Matched MeSH terms: Heart Defects, Congenital/ultrasonography*
Fulltext Newborn hearing screening: experience in a Malaysian hospital

Abdullah A, Hazim MY, Almyzan A, Jamilah AG, Roslin S, Ann MT, et al.

Singapore Med J, 2006 Jan;47(1):60-4.
PMID: 16397723

This study aims to determine the prevalence of hearing loss among newborns delivered at Hospital Universiti Kebangsaan Malaysia and to evaluate the usefulness of our hearing screening protocol.

Matched MeSH terms: Hearing Loss/congenital
Fulltext Ocular findings in Malaysian children with Down syndrome

Liza-Sharmini AT, Azlan ZN, Zilfalil BA

Singapore Med J, 2006 Jan;47(1):14-9.
PMID: 16397715

Down syndrome was first described as Mongoloid children with European parentage. Although their facial features resemble Orientals or Asians, ocular findings have not been well-documented in Asians, especially Malaysians. Our aim was to identify the ocular findings of Malaysian children with Down syndrome.

Matched MeSH terms: Nystagmus, Congenital/ethnology
Misidentification of toxigenic Corynebacterium diphtheriae as a Corynebacterium species with low virulence in a child with endocarditis

Pennie RA, Malik AS, Wilcox L

J Clin Microbiol, 1996 May;34(5):1275-6.
PMID: 8727917

A 6-year-old boy presented to a university hospital in Malaysia with infective endocarditis complicating cyanotic congenital heart disease. Blood cultures showed a gram-positive, aerobic, coryneform-like bacillus identified by the hospital laboratory as Corynebacterium xerosis, but a reference laboratory identified the organism as a toxigenic strain of Corynebacterium diphtheriae. The two laboratories concurred on all biochemical test results except for sucrose fermentation.

Matched MeSH terms: Heart Defects, Congenital/complications
Fulltext Progestogen for treating threatened miscarriage

Wahabi HA, Fayed AA, Esmaeil SA, Bahkali KH

Cochrane Database Syst Rev, 2018 Aug 06;8(8):CD005943.
PMID: 30081430 DOI: 10.1002/14651858.CD005943.pub5

BACKGROUND: Miscarriage is a common complication encountered during pregnancy. It is defined as spontaneous pregnancy loss before 20 weeks' gestation. Progesterone's physiological role is to prepare the uterus for the implantation of the embryo, enhance uterine quiescence and suppress uterine contractions, hence, it may play a role in preventing rejection of the embryo. Inadequate secretion of progesterone in early pregnancy has been linked to the aetiology of miscarriage and progesterone supplementation has been used as a treatment for threatened miscarriage to prevent spontaneous pregnancy loss. This update of the Cochrane Review first published in 2007, and previously updated in 2011, investigates the evidence base for this practice.
OBJECTIVES: To determine the efficacy and the safety of progestogens in the treatment of threatened miscarriage.
SEARCH METHODS: We searched Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov and the WHO International Clinical Trials Registry Platform (ICTRP) (8 August 2017) and reference lists of retrieved trials.
SELECTION CRITERIA: Randomised, quasi-randomised or cluster-randomised controlled trials, that compared progestogen with placebo, no treatment or any other treatment for the treatment of threatened miscarriage in women carrying singleton pregnancy.
DATA COLLECTION AND ANALYSIS: At least two review authors assessed the trials for inclusion in the review, assessed trial quality and extracted the data and graded the body of evidence.
MAIN RESULTS: We included seven trials (involving 696 participants) in this update of the review. The included trials were conducted in different countries, covering the full spectrum of the World Bank's economic classification, which enhances the applicability of evidence drawn from this review. Two trials were conducted in Germany and Italy which are high-income countries, while four trials were conducted in upper-middle income countries; two in Iran, one in Malaysia and the fourth in Turkey, and the seventh trial was conducted in Jordan, which is a lower-middle income country. In six trials all the participants met the inclusion criteria and in the seventh study, we included in the meta-analysis only the subgroup of participants who met the inclusion criteria. We assessed the body of evidence for the main outcomes using the GRADE tool and the quality of the evidence ranged from very low to moderate. Downgrading of evidence was based on the high risk of bias in six of the seven included trials and a small number of events and wide confidence intervals for some outcomes.Treatment of miscarriage with progestogens compared to placebo or no treatment probably reduces the risk of miscarriage; (risk ratio (RR) 0.64, 95% confidence interval (CI) 0.47 to 0.87; 7 trials; 696 women; moderate-quality evidence). Treatment with oral progestogen compared to no treatment also probably reduces the miscarriage rate (RR 0.57, 95% CI 0.38 to 0.85; 3 trials; 408 women; moderate-quality evidence). However treatment with vaginal progesterone compared to placebo, probably has little or no effect in reducing the miscarriage rate (RR 0.75, 95% CI 0.47 to 1.21; 4 trials; 288 women; moderate-quality evidence). The subgroup interaction test indicated no difference according to route of administration between the oral and vaginal subgroups of progesterone.Treatment of preterm birth with the use of progestogens compared to placebo or no treatment may have little or no effect in reducing the rate of preterm birth (RR 0.86, 95% CI 0.52 to 1.44; 5 trials; 588 women; low-quality evidence).We are uncertain if treatment of threatened miscarriage with progestogens compared to placebo or no treatment has any effect on the rate of congenital abnormalities because the quality of the evidence is very low (RR 0.70, 95% CI 0.10 to 4.82; 2 trials; 337 infants; very-low quality evidence).
AUTHORS' CONCLUSIONS: The results of this Cochrane Review suggest that progestogens are probably effective in the treatment of threatened miscarriage but may have little or no effect in the rate of preterm birth. The evidence on congenital abnormalities is uncertain, because the quality of the evidence for this outcome was based on only two small trials with very few events and was found to be of very low quality.

Matched MeSH terms: Congenital Abnormalities/epidemiology
Isolation of Neospora caninum from a calf in Malaysia

Cheah TS, Mattsson JG, Zaini M, Sani RA, Jakubek EB, Uggla A, et al.

Vet Parasitol, 2004 Dec 15;126(3):263-9.
PMID: 15567590

In order to attempt isolate the protozoan parasite Neospora caninum, an N. caninum seropositive pregnant Sahiwal Friesian cross heifer from a large-scale dairy farm in Malaysia was kept for observation until parturition at the Veterinary Research Institute, Ipoh. The heifer gave birth to a female calf that was weak, underweight and unable to rise. Precolostral serum from the calf had an N. caninum indirect fluorescent antibody test titre of 1:3200. It died 12 h after birth and necropsy was performed. Brain homogenate from the calf was inoculated into 10 BALB/c mice that were kept for 3 months after which brain tissue from the mice was inoculated onto 24 h fresh monolayer Vero cell lines. The cell cultures were examined daily until growth of intracellular protozoa was observed. DNA of the organisms from the cell cultures was analyzed by PCR and DNA sequencing. DNA fragments of the expected size were amplified from the isolate using N. caninum-specific primers, and sequence analysis of ITS1 clearly identified the isolate as N. caninum. This is the first successful isolation of N. caninum from a bovine in Malaysia, and the isolate is designated Nc-MalB1.

Matched MeSH terms: Cattle Diseases/congenital; Coccidiosis/congenital
Fulltext Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, et al.

Am J Hematol, 2010 Oct;85(10):824-8.
PMID: 20799361 DOI: 10.1002/ajh.21836

Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl2/HCO32 exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, and the Philippines, but not India. The dRTA mutation AE1 A858D has been detected only in the context of compound heterozygosity. We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene. The mutation creates a novel restriction site that is validated for diagnostic screening.

Matched MeSH terms: Anemia, Hemolytic, Congenital/complications; Anemia, Hemolytic, Congenital/genetics*
Bleeding events and associated factors in a cohort of adult patients taking warfarin in Sarawak, Malaysia

Edwards F, Arkell P, Fong, Roberts LM, Gendy D, Wong CS, et al.

J Thromb Thrombolysis, 2014;38(2):226-34.
PMID: 24233388

Evidence is emerging that rates of adverse events in patients taking warfarin may vary with ethnicity. This study investigated the rates of bleeds and thromboembolic events, the international normalised ratio (INR) status and the relationship between INR and bleeding events in Malaysia. Patients attending INR clinic at the Heart Centre, Sarawak General Hospital were enrolled on an ad hoc basis from May 2010 and followed up for 1 year. At each routine visit, INR was recorded and screening for bleeding or thromboembolism occurred. Variables relating to INR control were used as predictors of bleeds in logistic regression models. 125 patients contributed to 140 person-years of follow-up. The rates of major bleed, thromboembolic event and minor bleed per 100 person-years of follow-up were 1.4, 0.75 and 34.3. The median time at target range calculated using the Rosendaal method was 61.6% (IQR 44.6–74.1%). Of the out-of-range readings, 30.0% were below range and 15.4% were above. INR variability, (standard deviation of individuals’ mean INR), was the best predictor of bleeding events, with an odds ratio of 3.21 (95% CI 1.10–9.38). Low rates of both major bleeds and thromboembolic events were recorded, in addition to a substantial number of INR readings under the recommended target range. This may suggest that the recommended INR ranges may not represent the optimal warfarin intensity for this population and that a lower intensity of therapy, as observed in this cohort, could be beneficial in preventing adverse events.

Study site: INR clinic at the Heart Centre, Sarawak General Hospital

Matched MeSH terms: Thromboembolism/congenital
The effect of excision of the posterior arch of C1 on C1/C2 fusion using transarticular screws

Chang KC, Samartzis D, Fuego SM, Dhatt SS, Wong YW, Cheung WY, et al.

Bone Joint J, 2013 Jul;95-B(7):972-6.
PMID: 23814252 DOI: 10.1302/0301-620X.95B7.30598

Transarticular screw fixation with autograft is an established procedure for the surgical treatment of atlantoaxial instability. Removal of the posterior arch of C1 may affect the rate of fusion. This study assessed the rate of atlantoaxial fusion using transarticular screws with or without removal of the posterior arch of C1. We reviewed 30 consecutive patients who underwent atlantoaxial fusion with a minimum follow-up of two years. In 25 patients (group A) the posterior arch of C1 was not excised (group A) and in five it was (group B). Fusion was assessed on static and dynamic radiographs. In selected patients CT imaging was also used to assess fusion and the position of the screws. There were 15 men and 15 women with a mean age of 51.2 years (23 to 77) and a mean follow-up of 7.7 years (2 to 11.6). Stable union with a solid fusion or a stable fibrous union was achieved in 29 patients (97%). In Group A, 20 patients (80%) achieved a solid fusion, four (16%) a stable fibrous union and one (4%) a nonunion. In Group B, stable union was achieved in all patients, three having a solid fusion and two a stable fibrous union. There was no statistically significant difference between the status of fusion in the two groups. Complications were noted in 12 patients (40%); these were mainly related to the screws, and included malpositioning and breakage. The presence of an intact or removed posterior arch of C1 did not affect the rate of fusion in patients with atlantoaxial instability undergoing C1/C2 fusion using transarticular screws and autograft.

Matched MeSH terms: Congenital Abnormalities/surgery*
Combined low-dose oral propranolol and oral prednisolone as first-line treatment in periocular infantile hemangiomas

Koay AC, Choo MM, Nathan AM, Omar A, Lim CT

J Ocul Pharmacol Ther, 2011 Jun;27(3):309-11.
PMID: 21542771 DOI: 10.1089/jop.2011.0013

The purpose of this report was to describe 2 cases of periocular infantile hemangiomas (IHs) that were successfully treated with low-dose oral propranolol alone and in combination with oral prednisolone.

Matched MeSH terms: Hemangioma, Capillary/congenital*
Prevalence of rubella susceptibility among pregnant mothers in a community-based antenatal clinic in Malaysia: a cross-sectional study

Cheong AT, Khoo EM

Asia Pac J Public Health, 2008;20(4):340-6.
PMID: 19124328 DOI: 10.1177/1010539508322698

INTRODUCTION: routine rubella antibody screening is not done for antenatal mothers in community health clinics in Malaysia. However, congenital rubella syndrome has persisted with its associated health burden.
OBJECTIVES: to determine the prevalence of rubella susceptibility among pregnant mothers and its associated risk factors.
METHODOLOGY: a cross-sectional study was carried out in the Petaling district, Selangor, Malaysia, where 500 pregnant mothers were recruited, and face-to-face interviews were conducted. Rubella IgG tests were performed.
RESULTS: the prevalence of rubella susceptibility among pregnant mothers was 11.4%. Using logistic regression, a history of not having received rubella vaccination or having unknown rubella vaccination status was found to be a significant predictor for mothers to be rubella susceptible (odds ratio = 2.691; 95% confidence interval = 1.539-4.207).
CONCLUSIONS: routine rubella IgG screening tests need to be offered to all antenatal mothers in view of the high prevalence found.
Study site: Antenatal clinics (klinik kesihatan), Petaling, Selangor, Malaysia

Matched MeSH terms: Rubella Syndrome, Congenital/prevention & control*
Frontoethmoidal encephalocele: treatment and outcome

Arshad AR, Selvapragasam T

J Craniofac Surg, 2008 Jan;19(1):175-83.
PMID: 18216685 DOI: 10.1097/scs.0b013e3181534a77

This is a study on 124 patients who were treated by the authors over a 19-year period. There were 48 male and 76 female patients. The age range of these patients at the time of treatment was between 4 months and 32 years. There was no family history of similar deformity. All of these patients come from a socially low-income group. Fourteen patients had accompanying congenital amputation of fingers, toes, or limbs. Two had oral cleft lip and palate. The surgical treatment was medial orbital wall osteotomy and excision of encephalocele. There were two mortalities and five patients who had complications that needed secondary surgical intervention. Thirty-eight patients are still under follow up without any complaints.

Matched MeSH terms: Limb Deformities, Congenital/complications

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