Displaying publications 301 - 320 of 336 in total

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  1. Rai V, Shariffuddin II, Chan YK, Muniandy RK, Wong KK, Singh S
    BMC Anesthesiol, 2014;14:49.
    PMID: 25002831 DOI: 10.1186/1471-2253-14-49
    BACKGROUND: Complete heart block in pregnancy has serious implications particularly during the period of delivery. This is more so if the delivery is an operative one as the presence of heart block may produce haemodynamic instability in the intra operative period. We report a unique case of a pregnant mother with complete heart block undergoing hysterostomy, complicated by placenta accreta and intrauterine death.

    CASE PRESENTATION: A 37 year old Malaysian Chinese parturient was admitted at 25 weeks gestation following a scan which suggested intrauterine death and placenta accreta. She was diagnosed to have congenital complete heart block after her first delivery eight years previously but a pacemaker was never inserted. These medical conditions make her extremely likely to experience massive bleeding and haemodynamic instability. Among the measures taken to optimise her pre-operatively were the insertion of a temporary intravenous pacemaker and embolization of the uterine arteries to minimize peri-operative blood loss. She successfully underwent surgery under general anesthesia, which was relatively uneventful and was discharged well on the fourth post-operative day.

    CONCLUSION: Congenital heart block in pregnancies in the presence of potential massive bleeding is best managed by a team, with meticulous pre-operative optimization. Suggested strategies would include insertion of a temporary pacemaker and embolization of the uterine arteries to reduce the risk of the patient getting into life threatening situations.

    Matched MeSH terms: Heart Block/congenital
  2. Hussain S, Mohd Ali J, Jalaludin MY, Harun F
    Pediatr Diabetes, 2013 Jun;14(4):299-303.
    PMID: 23350652 DOI: 10.1111/pedi.12011
    We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non-conservative change substitutes the highly conserved L(13) residue within the hydrophobic core region of the preproinsulin signal peptide. Given the frequent tendency of heterozygous INS mutations to exhibit dominant negative disease pathogenesis, it is likely that the mutant preproinsulin perturbed the non-mutant counterpart progression and processing within the β-cells, and this resulted to a permanent form of congenital diabetes.
    Matched MeSH terms: Diabetes Mellitus, Type 1/congenital*
  3. 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*
  4. 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*
  5. Sakina MS, Goh BS, Abdullah A, Zulfiqar MA, Saim L
    Int J Pediatr Otorhinolaryngol, 2006 Dec;70(12):2093-7.
    PMID: 16996619
    Sensorineural hearing loss (SNHL) due to internal auditory canal (IAC) stenosis with hypoplasia of the cochleovestibular nerve is a rare disorder. The diagnosis of the IAC stenosis requires both high resolution computed tomography scan (HRCT) and magnetic resonance imaging (MRI).
    Matched MeSH terms: Hearing Loss, Sensorineural/congenital*
  6. Loh HS, Mohd-Lila MA, Abdul-Rahman SO, Kiew LJ
    Virol J, 2006;3:42.
    PMID: 16737550
    Cytomegalovirus (CMV) congenital infection is the major viral cause of well-documented birth defects in human. Because CMV is species-specific, the main obstacle to developing animal models for congenital infection is the difference in placental architecture, which preludes virus transmission across the placenta. The rat placenta, resembling histologically to that of human, could therefore facilitate the study of CMV congenital infection in human.
    Matched MeSH terms: Herpesviridae Infections/congenital
  7. Tan AE, Norizah WM, Rahman HA, Aziz BA, Cheah FC
    J Obstet Gynaecol Res, 2005 Aug;31(4):296-301.
    PMID: 16018775 DOI: 10.1111/j.1447-0756.2005.00291.x
    Aim: To determine the incidence of an abnormal umbilical artery resistance index (UARI) in diabetic pregnancies and the relation to fetal outcome and the development of neonatal septal hypertrophic cardiomyopathy.

    Methods: A case-control study with subjects comprising 50 randomly selected diabetic mothers and a matched control group of 50 non-diabetic pregnancies. Doppler studies of the UARI were carried out at least once per week, beginning from 36 weeks' gestation for both groups. Within 48 h post delivery, echocardiograms were carried out on the newborn infants to identify those with hypertrophic cardiomyopathy, particularly asymmetrical septal hypertrophy.

    Results: The numbers of patients with abnormal UARI were similar in both the diabetic and control groups. A higher proportion of operative deliveries for intrapartum fetal distress was seen in patients with an abnormal UARI in the diabetic group. However, the groups did not differ in the numbers of infants who were small for gestational age, who had low Apgar scores or umbilical artery acidosis, and who required admission to the special care nursery. Six infants of diabetic mothers (12%) had septal hypertrophy, but none of these were associated with abnormal antenatal UARI.

    Conclusion: Diabetic pregnancy is not associated with a significantly higher incidence of abnormal UARI on Doppler study than non-diabetic pregnancy. UARI is not a useful single indicator by which to predict subsequent fetal outcome or the development of neonatal septal hypertrophic cardiomyopathy in diabetic pregnancies.
    Matched MeSH terms: Cardiomyopathy, Hypertrophic/congenital
  8. Kang IN, Musa M, Harun F, Junit SM
    Biochem Genet, 2010 Feb;48(1-2):141-51.
    PMID: 20094846 DOI: 10.1007/s10528-009-9306-7
    The FOXE1 gene was screened for mutations in a cohort of 34 unrelated patients with congenital hypothyroidism, 14 of whom had thyroid dysgenesis and 18 were normal (the thyroid status for 2 patients was unknown). The entire coding region of the FOXE1 gene was PCR-amplified, then analyzed using single-stranded conformational polymorphism, followed by confirmation by direct DNA sequencing. DNA sequencing analysis revealed a heterozygous A>G transition at nucleotide position 394 in one of the patients. The nucleotide transition changed asparagine to aspartate at codon 132 in the highly conserved region of the forkhead DNA binding domain of the FOXE1 gene. This mutation was not detected in a total of 104 normal healthy individuals screened. The binding ability of the mutant FOXE1 protein to the human thyroperoxidase (TPO) promoter was slightly reduced compared with the wild-type FOXE1. The mutation also caused a 5% loss of TPO transcriptional activity.
    Matched MeSH terms: Congenital Abnormalities/genetics
  9. 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
  10. 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
  11. 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*
  12. Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, et al.
    Nat Commun, 2016 Feb 24;7:10822.
    PMID: 26905694 DOI: 10.1038/ncomms10822
    Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is partially reversed by a RAC1/CDC42 activator. Podocyte-specific deletion of Fat1 in mice induces abnormal glomerular filtration barrier development, leading to podocyte foot process effacement. Knockdown of Fat1 in renal tubular cells reduces migration, decreases active RAC1 and CDC42, and induces defects in lumen formation. Knockdown of fat1 in zebrafish causes pronephric cysts, which is partially rescued by RAC1/CDC42 activators, confirming a role of the two small GTPases in the pathogenesis. These findings provide new insights into the pathogenesis of SRNS and tubulopathy, linking FAT1 and RAC1/CDC42 to podocyte and tubular cell function.
    Matched MeSH terms: Nephrotic Syndrome/congenital*
  13. Krishnan, Santhana, Mimi Sakinah Abdul Munaim, Zularisam Abdul Wahid, Chua, Yeo Gek Kee, Chew, Few Nee
    MyJurnal
    Monoclonal antibodies (mAbs) are unique and specific drug molecules targeting the treatment of various diseases such as arthritis, immune disorders, infectious diseases, and cancer etc. Different methods such as antibody coupled affinity chromatography, hydrophobic interaction chromatography, etc., can be applied to purify mAbs from various sources. This article provides a simple, cost effective, preparative native-polyacrylamide gel electrophoresis (n-PAGE)technique to purify mAbs expressed in H-192 cells (Hybridoma murine cell lines) against an antigen i.e. 17-alpha-hydroxyprogesterone (17-OHP), which further can have diagnostic application to detect Congenital Adrenal Hyperplasia (CAH). Furthermore, different parameters such as concentration and volume of the feedstock (medium containing antibodies), pore size of gel, height of resolving gel etc. were optimized to obtain the maximum purity and yield of mAbs.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital
  14. Zainuddin AA, Grover SR, Soon CH, Nur Azurah AG, Mahdy ZA, Wu LL, et al.
    Front Pediatr, 2019;7:144.
    PMID: 31058121 DOI: 10.3389/fped.2019.00144
    Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery. Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists. Results: Of 61 individuals identified, 59 participated-consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents. Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital
  15. Khairil-Ridzwan KK, Azian A, Hanizasurana H, Shatriah I
    Cureus, 2019 Apr 15;11(4):e4460.
    PMID: 31205846 DOI: 10.7759/cureus.4460
    Senior-Loken syndrome is a rare disorder that presents in the first two decades of life. It commonly manifests with nephronophthisis and retinal dystrophy. We describe a teenager who had end-stage renal failure presenting with bilateral visual impairment due to retinal dystrophy with concomitant unilateral Coats disease and exudative retinal detachment. The patient was treated with a combination of endolaser photocoagulation and external drainage of the subretinal fluid. The final visual acuity remained poor in both eyes. Options of treatment in this challenging situation is discussed in this case report.
    Matched MeSH terms: Leber Congenital Amaurosis
  16. Mohd Nasir Abd Aziz
    MyJurnal
    Introduction: HIV and syphilis testing has been part of Malaysia’s comprehensive maternal & child health pro-gramme for more than 2 decades. Part of this antenatal package include lifelong antiretroviral (ARV) treatment to HIV+ pregnant women, free antiretroviral therapy (ART) prophylaxis/ infant formula for all HIV-exposed infants and appropriate management for syphilis positive antenatal mothers. The objective of this paper is to present the analysis of Malaysia’s achievement in obtaining the elimination of mother-to-child transmission of HIV (eMTCT) and syphilis status from the World Health Organisation (WHO). Methods: This survey is based on our surveillance and analysis of data on HIV and syphilis testing on pregnant women over a three-year period, beginning from 2015. Results: Malaysia’s national health survey revealed 97.4% of pregnant women in Malaysia had a minimum of four antenatal visits. The MOH’s surveillance system also showed 95.1% and 95.8% of pregnant women received HIV/ syphilis screening in 2015 and 2016 respectively, whilst the HIV vertical transmission rate declined from 16.12% in 2000 to 2.46% and 1.99% in 2015 and 2016 respectively. Congenital syphilis rates declined from 6.0 / 100,000 live births in 2012 to 5.0 and 4.0/ 100,000 live births in 2015 and 2016 respectively. In addition, more than 95% of antenatal mothers living with HIV received ARV and almost 100% of TPHA positive (Treponema pallidum haemagglutination) of expectant mothers received appropriate treatment. Conclusion: Based on such impressive findings, Malaysia was recognised by WHO in May 2018 as the first country in the Western Pacific Region to have successfully “eliminated” a significant public health problem.
    Matched MeSH terms: Syphilis, Congenital
  17. Haranal M, Chin HC, Sivalingam S, Raja N, Mohammad Shaffie MS, Namasiwayam TK, et al.
    World J Pediatr Congenit Heart Surg, 2020 Nov;11(6):720-726.
    PMID: 33164692 DOI: 10.1177/2150135120936119
    BACKGROUND: To compare the safety and effectiveness of del Nido cardioplegia with blood-based St Thomas Hospital (BSTH) cardioplegia in myocardial protection in congenital heart surgery.

    METHODS: It is a prospective, open-labeled, randomized controlled study conducted at National Heart Institute, Kuala Lumpur from July 2018 to July 2019. All patients with simple and complex congenital heart diseases (CHD) with good left ventricular function (left ventricular ejection fraction [LVEF] >50%) were included while those with LVEF <50% were excluded. A total of 100 patients were randomized into two groups of 50 each receiving either del Nido or BSTH cardioplegia. Primary end points were the spontaneous return of activity following aortic cross-clamp release and ventricular function between two groups. Secondary end point was myocardial injury as assessed by troponin T levels.

    RESULTS: Cardiopulmonary bypass and aortic cross-clamp time, return of spontaneous cardiac activity following the aortic cross-clamp release, the duration of mechanical ventilation, and intensive care unit stay were comparable between two groups. Statistically significant difference was seen in the amount and number of cardioplegia doses delivered (P < .001). The hemodilution was significantly less in the del Nido complex CHD group compared to BSTH cardioplegia (P = .001) but no difference in blood usage (P = .36). The myocardial injury was lesser (lower troponin T release) with del Nido compared to BSTH cardioplegia (P = .6).

    CONCLUSION: Our study showed that both del Nido and BSTH cardioplegia are comparable in terms of myocardial protection. However, single, less frequent, and lesser volume of del Nido cardioplegia makes it more suitable for complex repair.

    Matched MeSH terms: Heart Defects, Congenital
  18. Mat Bah MN, Sapian MH, Alias EY
    Ann Pediatr Cardiol, 2020 09 17;13(4):320-326.
    PMID: 33311920 DOI: 10.4103/apc.APC_35_20
    Aims: There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD.

    Setting and Design: Retrospective observational cohort study in the State of Johor, Malaysia.

    Subjects and Methods: All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age.

    Results: Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16-1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD.

    Conclusions: Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

    Matched MeSH terms: Heart Defects, Congenital
  19. Cheah FC, Noraida MH, Boo NY, Amin TY
    Singapore Med J, 2000 Nov;41(11):548-9.
    PMID: 11284614
    Chylothorax is a rarely recognised post-operative complication following repair of congenital diaphragmatic hernia. We report here a newborn infant with this condition which resolved with percutaneous chest drainage, total parenteral nutrition and enteral feeding of a formula high in medium-chain triglycerides.
    Matched MeSH terms: Hernias, Diaphragmatic, Congenital
  20. Thambiah, Subashini Chellapah, Zalinah Ahmad, Zarida Hambali, Malina Osman, Munia Mohd Zain, Fuziah Md Zain, et al.
    MyJurnal
    A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The demographics and clinical details of the study population were acquired from a questionnaire completed by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years. Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%), Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed after one week of life (80.4%) although more females were diagnosed under the age of one week compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001] whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race and all other variables, though interestingly three Malay patients presented with ambiguous genitalia and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition, although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential in Malaysia.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital
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