Displaying publications 301 - 320 of 336 in total

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  1. 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*
  2. 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
  3. 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*
  4. 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*
  5. Lo MS, Ng ML, Wu LL, Khalid BA
    Malays J Pathol, 1996 Jun;18(1):53-8.
    PMID: 10879225
    An in-house radioimmunoassay (RIA) for the measurement of androstenedione levels in serum was established and validated. Levels of androstenedione were measured by RIA using serum samples from various normal population groups and patients with congenital adrenal hyperplasia (CAH). Analytical recovery and linearity results were > 95%, while intra- and inter-assay CVs were < 10% and < 22% respectively. The assay sensitivity was 0.5 nmol/l or 25 fmol/tube. In normal population groups, the highest androstenedione levels were found in preterm neonates (1.6-12.4 nmol/l), followed by adult females (1.5-10.2 nmol/l), adult males (1.6-8.0 nmol/l) and term neonates (0.8-8.8 nmol/l), while the lowest values were observed in prepubertal children (0.5-3.4 nmol/l). There were no significant differences in diurnal variation and between follicular and luteal phases. The range of androstenedione levels in untreated or poorly controlled CAH patients (7.6-355.0 nmol/l, median 42.5 nmol/l, n = 20) were significantly higher (p < 0.001) than the upper normal limit of 3.4 nmol/L for prepubertal children. The normal androstenedione reference ranges for paediatric and adult groups have thus been established.
    Matched MeSH terms: Adrenal Hyperplasia, Congenital/blood*
  6. Pit S, Jamal F, Cheah FK
    J Trop Med Hyg, 1993 Jun;96(3):191-6.
    PMID: 8505776
    A prospective study was carried out to determine the aetiology of cerebral abscess in relation to the primary source of infections. Seventy-five patients with cerebral abscess were included in the study in the period January 1985 to December 1988. More than half of the patients studied had single lesions and the overall most common sites were in the frontal and parietal regions. Chronic suppurative otitis media, cyanotic congenital heart diseases and meningitis were among the important predisposing conditions in these patients. Approximately 25% of the patients with cerebral abscesses had no documented antecedent infections. Pure cultures were found to be predominant (66.7%) and sterile cultures were obtained from 10 (13.3%) patients. Streptococci were isolated from 23 (30.7%) patients, the commonest species being Streptococcus milleri. Proteus sp, Pseudomonas aeruginosa, Pseudomonas putrifaciens and Bacteroides sp were almost exclusively found in cerebral abscesses secondary to chronic suppurative otitis media; these organisms were found in mixed cultures. Streptococcus milleri, Bacteroides sp and Eikenella corrodens were found in pure cultures in patients with cyanotic congenital heart disease. In patients with ventriculoperitoneal shunts in-situ, Staphylococcus aureus, Staphylococcus epidermidis and diphtheroids were common. Anaerobes were found in 15 (20.0%) patients, the majority in mixed cultures. Culture, as well as gas-liquid chromatographic analysis of volatile fatty acids of cerebral pus, was carried out to enhance the detection of the anaerobes. Based on these findings, an antibiotic regimen consisting of penicillin, chloramphenicol and metronidazole is recommended as an initial therapy while awaiting culture and sensitivity results.
    Matched MeSH terms: Heart Defects, Congenital/complications
  7. Bartlett AW, Lumbiganon P, Kurniati N, Sudjaritruk T, Mohamed TJ, Hansudewechakul R, et al.
    J Adolesc Health, 2019 11;65(5):651-659.
    PMID: 31395514 DOI: 10.1016/j.jadohealth.2019.05.025
    PURPOSE: Antiretroviral monotherapy and treatment interruption are potential strategies for perinatally HIV-infected adolescents (PHIVA) who face challenges maintaining effective combination antiretroviral therapy (ART). We assessed the use and outcomes for adolescents receiving monotherapy or undergoing treatment interruption in a regional Asian cohort.

    METHODS: Regional Asian data (2001-2016) were analyzed to describe PHIVA who experienced ≥2 weeks of lamivudine or emtricitabine monotherapy or treatment interruption and trends in CD4 count and HIV viral load during and after episodes. Survival analyses were used for World Health Organization (WHO) stage III/IV clinical and immunologic event-free survival during monotherapy or treatment interruption, and a Poisson regression to determine factors associated with monotherapy or treatment interruption.

    RESULTS: Of 3,448 PHIVA, 84 (2.4%) experienced 94 monotherapy episodes, and 147 (4.3%) experienced 174 treatment interruptions. Monotherapy was associated with older age, HIV RNA >400 copies/mL, younger age at ART initiation, and exposure to ≥2 combination ART regimens. Treatment interruption was associated with CD4 count <350 cells/μL, HIV RNA ≥1,000 copies/mL, ART adverse event, and commencing ART age ≥10 years compared with age <3 years. WHO clinical stage III/IV 1-year event-free survival was 96% and 85% for monotherapy and treatment interruption cohorts, respectively. WHO immunologic stage III/IV 1-year event-free survival was 52% for both cohorts. Those who experienced monotherapy or treatment interruption for more than 6 months had worse immunologic and virologic outcomes.

    CONCLUSIONS: Until challenges of treatment adherence, engagement in care, and combination ART durability/tolerability are met, monotherapy and treatment interruption will lead to poor long-term outcomes.

    Matched MeSH terms: HIV Infections/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. Mohtar S, Hui TWC, Irwin MG
    Paediatr Anaesth, 2018 11;28(11):1035-1042.
    PMID: 30281181 DOI: 10.1111/pan.13502
    BACKGROUND: Video-assisted thoracoscopic surgery has dramatically increased over the last decade because of both medical and cosmetic benefits. Anesthesia for video-assisted thoracoscopic surgery in small children is more challenging compared to adults due to the considerable problems posed by small airway dimensions and ventilation. The optimal technique for one-lung ventilation has yet to be established and the use of remifentanil infusion in this setting is not well described.

    AIMS: This study investigated the use of extraluminal bronchial blocker placement for one-lung ventilation and the effect of infusion of remifentanil in infants and small children undergoing video-assisted thoracoscopic surgery.

    METHODS: We retrospectively reviewed the technique of one-lung ventilation and the hemodynamic effects of remifentanil infusion in 31 small children during elective video-assisted thoracoscopic surgery for congenital lung lesions under anesthesia with sevoflurane or isoflurane, oxygen, and air. Patients' heart rate, blood pressure, and endtidal carbon dioxide at baseline (after induction of anesthesia), immediately after one-lung ventilation, during carbon dioxide insufflation, and at the end of one-lung ventilation were extracted from the database and analyzed. The use of vasopressors or dexmedetomidine was also recorded and analyzed.

    RESULTS: Extraluminal placement of a bronchial blocker alongside the tracheal tube was successfully performed in 90.3% of cases (28 patients) without any serious complications or arterial oxygen desaturation. There was no significant rise in blood pressure or heart rate even with the rise of endtidal carbon dioxide concentration during video-assisted thoracoscopic surgery. In 58% of patients (18 patients), phenylephrine was administered to maintain the blood pressure within 20% of the baseline value. There was no significant change in the heart rate of all patients at each time point.

    CONCLUSION: One-lung ventilation with an extraluminal parallel blocker was used effectively in this series of young children undergoing thoracoscopic excision of congenital pulmonary lesions. Remifentanil infusion attenuated surgical stress effectively in infants and small children undergoing video-assisted thoracoscopic surgery.

    Matched MeSH terms: Cystic Adenomatoid Malformation of Lung, Congenital/surgery
  10. 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
  11. 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
  12. Lee CY, Osman SS, Noor HM, Isa NSA
    Sultan Qaboos Univ Med J, 2018 Nov;18(4):e541-e544.
    PMID: 30988978 DOI: 10.18295/squmj.2018.18.04.020
    A congenital pulmonary airway malformation (CPAM) is a rare cystic anomaly that may occur during development of the fetal airways. The vast majority of CPAMs are detected in neonates; as such, it is unusual for diagnosis to occur in adulthood. We report a 21-year-old male patient who presented to the emergency department of the Hospital Ampang, Kuala Lumpur, Malaysia, in 2015 with chest pain, breathlessness and tachypnoea. Based on an initial chest X-ray, the patient was misdiagnosed with pneumothorax and underwent urgent chest tube insertion; however, his condition deteriorated over the course of the next three days. Further imaging was suggestive of infected bullae or an undiagnosed CPAM. The patient therefore underwent video-assisted thoracoscopic surgery, during which a large infected bulla was resected. A diagnosis of an infected CPAM was confirmed by histopathological examination. Following the surgery, the patient recovered quickly and no bullae remnants were found at a one-month follow-up.
    Matched MeSH terms: Cystic Adenomatoid Malformation of Lung, Congenital/complications*
  13. Ngim CF, Ng CS, Lai NM
    J Trop Pediatr, 2014 Jun;60(3):253-6.
    PMID: 24473404 DOI: 10.1093/tropej/fmu003
    A rare syndrome of hypertension, seizures and intracranial bleed has been reported among patients with congenital hemolytic anemia who underwent multiple blood transfusions. We report this syndrome in a 12-year-old Malay girl with hemoglobin E-beta-thalassemia, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and seizures. A comprehensive literature review revealed 30 patients with this syndrome, of whom 15 had intracranial bleed and 12 among these 15 died. A less-intensive transfusion regimen among patients with chronic hemolytic anemia and prompt detection and management of hypertension may prevent this potentially fatal syndrome.
    Matched MeSH terms: Anemia, Hemolytic, Congenital
  14. Alwi M
    Ann Pediatr Cardiol, 2008 Jan;1(1):38-45.
    PMID: 20300236 DOI: 10.4103/0974-2069.41054
    Ductal stenting is an attractive alternative to conventional shunt surgery in duct dependent congenital heart disease as it avoids thoracotomy and its related problems. With today's generation of coronary stents which have better profile, flexibility and trackability, ductal stenting may be achieved safely and with considerably less difficulty than previously described.As in Blalock-Taussig (BT) shunt, ductal stenting is indicated mainly in duct-dependent cyanotic lesions chiefly in the neonatal period. Unlike the Patent ductus arteriosus (PDA) as an isolated lesion, the ductus in cyanotic heart disease has a remarkable morphologic variability. The ductus tends to arise more proximally under the aortic arch, giving rise to a vertical ductus or occasionally it may arise from the subclavian artery. It also tends to be long and sometimes very tortuous, rendering stent implantation technically impossible. The ductus in these patients may also insert onto one of the branch pulmonary arteries with some stenosis at the site of insertion. The ductus in Tetralogy of Fallot with pulmonary atresia (TOF-PA) tend to exhibit these morphologic features and to a lesser degree in transposition of great arteries with ventricular septal defect and pulmonary atresia (TGA-VSD-PA) and the more complex forms of univentricular hearts. In the preliminary angiographic evaluation, it is important to delineate these morphologic features as the basis for case selection.Ductal stenting may be done by the retrograde femoral artery route or the antegrade transvenous route depending on the ductus morphology and the underlying cardiac lesion. The detailed techniques and essential hardware are described. Finally, major potential complications of the procedure are described. Acute stent thrombosis is the most serious and potentially catastrophic. Emergent treatment with thrombolytic therapy and mechanical disruption of thrombus are required. With proper case selection, appropriate technique and the right hardware ductal stenting provides reasonable short-medium term palliation in duct-dependent cyanotic heart disease.
    Matched MeSH terms: Heart Defects, Congenital
  15. 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
  16. 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
  17. Wahab NA, Chien BH, Omar MR, Aziz AA, Mustafa N, Sukor N, et al.
    Acta Med Indones, 2021 Jan;53(1):77-81.
    PMID: 33818409
    Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life.
    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. 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
  20. Mot Yee Yik, Rabiatul Basria S.M.N. Mydin, Emmanuel Jairaj Moses, Shahrul Hafiz Mohd Zaini, Abdul Rahman Azhari, Narazah Mohd Yusoff
    MyJurnal
    Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.

    Matched MeSH terms: Heart Defects, Congenital
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