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Fulltext Presacral Extramedullary Haemopoiesis Mimicking an Ovarian Mass

Amran, A.R., Moosa, F.

International Medical Journal Malaysia, 2006;5(1):1-6.
MyJurnal

Extramedullary hematopoiesis (EH) is a rare but well-known compensatory mechanism of red blood cell production when the normal site of red bone marrow is unable to produce sufficient number of red blood cells. When the body demands for erythrocyte cells is high this lead to EH. This occurs mainly outside the bone marrow, usually paraspinally and sites which are normally observed in the fetus as in the liver, spleen, lymph nodes and less frequently at other sites such as adrenal, thymus, kidneys, pleura, breast, skin, gastrointestinal tract, dura mater and brain.This is more frequent in thalassaemia major (incidence up to 15% of cases), in myelofibrosis, myeloproliferative diseases (polycythemia rubra vera, chronic myeloid leukemia,), hemolytic anemias such as hereditary spherocytosis, pyruvate-kinase deficiency, medullary tuberculosis and in Paget’s disease of the bone. In some cases the cause of the EH are not identified [3]. We describe a case of EH in the presacral space that mimicked an ovarian mass on ultrasound in a patient with beta-thalassaemia intermedia.

Matched MeSH terms: Anemia, Hemolytic, Congenital
A Case of Paraganglioma with Cyanotic Congenital Heart Disease

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
Fulltext Congenital Hypothyroidism in Children - A Cross-Sectional Study in a Tertiary Centre in Malaysia

Anuar Zaini A, Feng Tung Y, Ahmad Bahuri NF, Yazid Jalaludin M

J ASEAN Fed Endocr Soc, 2020;35(1):62-67.
PMID: 33790495 DOI: 10.15605/jafes.035.01.11

Introduction: The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH) or transient hypothyroidism (TH).
Methodology: This is a cross-sectional study looking at data over a period of 16 years (2000-2016). Confirmed cases had thyroid scan at the age of 3-years-old and repeated TFT (after 6 weeks off medications). Relevant data was collected retrospectively.
Results: Forty (60% female) children with CHT were included in the study. Thirty (75%) children presented with high cord TSH. Nine (23%) presented after 2 weeks of life. Majority were diagnosed with TDH (42.5%) with TD and TH of 40% and 17.5% respectively. Median cord TSH of children with TD was significantly higher compared to TDH and TH (p=0.028 and p=0.001 respectively). L-thyroxine doses were not significantly different between TD, TDH and TH at diagnosis or at 3 years.
Conclusions: TDH is highly prevalent in our population. TD may present after 2 weeks of life. One in five children treated for CHT had TH. Differentiating TD, TDH and TH before initiating treatment remains a challenge in Malaysia. This study provides clinicians practical information needed to understand the possible aetiologies from a patient's clinical presentation, biochemical markers and treatment regime. Reassessing TH cases may be warranted to prevent unnecessary treatment.

Matched MeSH terms: Congenital Hypothyroidism
Fulltext The rare congenital anomaly of scimitar syndrome: an unusual presentation in symptomatic adult

Siti Zulaiha Binti Che Hat

Malaysian Journal of Medicine and Health Sciences, 2020;16(3):334-336.
MyJurnal

Scimitar syndrome is a rare congenital heart defect occurring in 1 to 3 per 100,000 live births. This is a case of a 26 years old lady presenting with episodic fainting spells since the age of 18 years old. She was initially diagnosed with epilepsy until a referral to our centre found a soft splitting of the second heart sound and multiple premature ventricular complexes on ECG. The computed tomography of the pulmonary artery confirmed the diagnosis if Scim- itar syndrome in the presence of anomalous single right pulmonary vein draining into infra-diaphragmatic systemic venous circulation. A corrective open-heart surgery to re-implant the pulmonary vein was performed with excellent clinical outcomes. Therefore, it is crucial for clinicians to embody high index of suspicion of congenital anomaly even in adults presenting with indefinite clinical symptoms. This report also represents the first published case of adult Scimitar syndrome from Malaysia.

Matched MeSH terms: Heart Defects, Congenital
Fulltext A case study of distinctive phenotypes arising from emanuel syndrome in two karyotypically identical patients

Mot Yee Yik, Rabiatul Basria S.M.N. Mydin, Emmanuel Jairaj Moses, Shahrul Hafiz Mohd Zaini, Abdul Rahman Azhari, Narazah Mohd Yusoff

Malaysian Journal of Medicine and Health Sciences, 2020;16(102):78-80.
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
A Comparative Effectiveness Systematic Review and Meta-Analysis of Drugs for the Prophylaxis of Junctional Ectopic Tachycardia

Mendel B, Christianto, Setiawan M, Prakoso R, Siagian SN

Curr Cardiol Rev, 2021 Jun 03.
PMID: 34082685 DOI: 10.2174/1573403X17666210603113430

BACKGROUND: Junctional ectopic tachycardia (JET) is an arrhythmia originating from the AV junction, which may occur following congenital heart surgery, especially when the intervention is near the atrioventricular junction.
OBJECTIVE: The aim of this systematic review and meta-analysis is to compare the effectiveness of amiodarone, dexmedetomidine and magnesium in preventing JET following congenital heart surgery.
METHODS: This meta-analysis was conducted according to the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) statement, where 11 electronic databases were searched from date of inception to August 2020. The incidence of JET was calculated with the relative risk of 95% confidence interval (CI). Quality assessment of the included studies was assessed using the Consolidated Standards of Reporting Trials (CONSORT) 2010 statement.
RESULTS: Eleven studies met the predetermined inclusion criteria and were included in this meta-analysis. Amiodarone, dexmedetomidine and magnesium significantly reduced the incidence of postoperative JET [Amiodarone: risk ratio 0.34; I2= 0%; Z=3.66 (P=0.0002); 95% CI 0.19-0.60. Dexmedetomidine: risk ratio 0.34; I2= 0%; Z=4.77 (P<0.00001); 95% CI 0.21-0.52. Magnesium: risk ratio 0.50; I2= 24%; Z=5.08 (P<0.00001); 95% CI 0.39-0.66].
CONCLUSION: All three drugs show promise in reducing the incidence of JET. Our systematic review found that dexmedetomidine is better in reducing the length of ICU stays as well as mortality. In addition, dexmedetomidine also has the least pronounced side effects among the three. However, it should be noted that this conclusion was derived from studies with small sample sizes. Therefore, dexmedetomidine may be considered as the drug of choice for preventing JET.

Matched MeSH terms: Heart Defects, Congenital
Initial Clinical Trial of A Novel Pulmonary Valved Conduit

Prodan Z, Mroczek T, Sivalingam S, Bennink G, Asch FM, Cox M, et al.

Semin Thorac Cardiovasc Surg, 2021 May 10.
PMID: 33984478 DOI: 10.1053/j.semtcvs.2021.03.036

Valved allografts and xenografts for reconstruction of the right ventricular outflow tract (RVOT) lack durability and do not grow. We report the first clinical use of a completely bioabsorbable valved conduit (Xeltis pulmonary valve - XPV) in children. Twelve children (six male), median age five (two to twelve) years and median weight 17 (10 to 43) kg, underwent RVOT reconstruction with the XPV. Diagnoses were: pulmonary atresia with ventricular septal defect (VSD) (n=4), tetralogy of Fallot (n=4), common arterial trunk (n=3), and transposition of the great arteries with VSD and pulmonary stenosis (n=1). All had had previous surgery, including prior RVOT conduit implantation in six. Two diameters of conduit 16mm (n=5) and 18mm (n=7) were used. At 24 months none of the patients has required surgical re-intervention, 9 of the 12 are in NYHA functional class I and three patients in NYHA class II. None of the conduits has shown evidence of progressive stenosis, dilation or aneurysm formation. Residual peak gradient of >40 mm Hg was observed in three patients, caused by kinking of the conduit at implantation in 1 and distal stenosis in the peripheral pulmonary arteries in 2 patients. Five patients developed severe pulmonary valve insufficiency (PI); the most common mechanism was prolapse of at least one of the valve leaflets. The XPV conduit is a promising innovation for RVOT reconstruction. Progressive PI requires however an improved design (geometry, thickness) of the valve leaflets.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Stenting the ductus arteriosus: Case selection, technique and possible complications

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
Fulltext Surgical outcome of bone anchored hearing aid (baha) implant surgery: a 10 years experience

Asma A, Ubaidah MA, Hasan SS, Wan Fazlina WH, Lim BY, Saim L, et al.

Indian J Otolaryngol Head Neck Surg, 2013 Jul;65(3):251-4.
PMID: 24427576 DOI: 10.1007/s12070-013-0621-2

Bone anchored hearing aid (Baha) implant is an option for patient with canal atresia, single sided deafness(SSD) and chronically discharging ears despite treatments. This retrospective study was conducted from 2001 to 2011 to evaluate the surgical outcome of Baha implant surgery. Thirty-three patients were identified during this study period. Their age at implantation ranged from 5 to 40 years. Of 33 patients, 29 (87.9 %) patients had bilateral microtia and canal atresia, 3 (9.1 %) patients had unilateral microtia and canal atresia and 1 (3.0 %) patients have SSD following labyrinthitis. One patient (3.2 %) had major complication which is lost of implant due to failure of osseointegration. Soft tissue reactions were seen 7 patients (21.1 %). Of these 7 patients, 4 patients required 3-4 procedures as day care operation for excision of the skin overgrowth surrounding the abutment. Recurrent antibiotic treatment was required in 3 patients (9.7 %). None of our patient had history of intraoperative or peri-operative complication following Baha surgery. The commonest complications are local infection and inflammation at the implant site. None of our patient had history of intraoperative or peri-operative complication following Baha implant surgery.

Matched MeSH terms: Congenital Microtia
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review

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
Endemic goiter in Southeast Asia. New clothes on an old body

Ramalingaswami V

Ann Intern Med, 1973 Feb;78(2):277-83.
PMID: 4265088
Matched MeSH terms: Congenital Hypothyroidism/etiology
Congenital pseudoarthrosis of the tibia: healing by lengthening over a rod without compression of the nonunion. A preliminary report

Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S

J Pediatr Orthop B, 2013 May;22(3):207-12.
PMID: 22182834 DOI: 10.1097/BPB.0b013e32834ecc01

This preliminary report is on two patients with congenital pseudoarthrosis of the tibia who had a persistent nonunion following intramedullary rodding and bone grafting. We do not advocate repeated surgery to achieve union. When limb length discrepancy becomes greater than 5 cm, we proceeded with an Ilizarov procedure with the primary aim of equalizing limb length rather than achieving union. Healing of the pseudoarthrosis occurred in both patients after lengthening over the intramedullary rod without compression of the nonunion site. We believe that union occurs because of hyperaemia during the lengthening. This approach minimizes the repeated surgeries that are usually needed and thus ensures a more normal childhood without frequent hospitalizations.

Matched MeSH terms: Pseudarthrosis/congenital*
Dexmedetomidine and ketamine sedation for dental extraction in children with cyanotic heart disease

Hasan MS, Chan L

J Oral Maxillofac Surg, 2014 Oct;72(10):1920.e1-4.
PMID: 24985961 DOI: 10.1016/j.joms.2014.03.032

Treating children with cyanotic congenital heart disease poses many challenges to anesthesiologists because of the multiple problems associated with the condition. The anesthetic technique and drugs used perioperatively can affect a patient's physiologic status during surgery. The adherence to certain hemodynamic objectives and the avoidance of factors that could worsen the abnormal cardiopulmonary physiology cannot be overemphasized. In the present case series, we describe the use of a dexmedetomidine-ketamine combination for dental extraction in spontaneously breathing children with cyanotic congenital heart disease. The anesthetic concerns regarding airway management, the pharmacologic effects of drugs, and maintenance of adequate hemodynamic, blood gases, and acid-base status are discussed.

Matched MeSH terms: Heart Defects, Congenital/complications*
Cholesteatoma in patients with congenital external auditory canal anomalies: retrospective review

Mazita A, Zabri M, Aneeza WH, Asma A, Saim L

J Laryngol Otol, 2011 Nov;125(11):1116-20.
PMID: 21846418 DOI: 10.1017/S0022215111002052

To review cases of congenital external auditory canal anomaly with cholesteatoma, documenting clinical presentation, cholesteatoma site and extent, complications, and surgery.

Matched MeSH terms: Congenital Abnormalities/epidemiology
Current trends in morbidity and mortality of children in Malaysia

Lin, Hai Peng, Mohd Sham Kasim

Malaysian Journal of Child Health, 1997;9(2):104-132.
MyJurnal

Malaysia is a rapidly developing country with a very young population, about 36% of which are below the age of 15 years. The standard of child health has improved greatly. However, there are great changes in the morbidity and mortality patterns of childhood diseases relating mainly to an improved standard of living; availability of safe water supply and adequate sanitary latrines; a higher literacy rate; rapid industrialisation and urban migration. The infant mortality rate has droppedfrom 50.1 per 1,000 livebirths in 1986 to 10.4 in 1995, and similar trends apply also to neonatal, perinatal and toddler mortality rates. Nevertheless, current major child health problems are those relating to events in the perinatal period and to infections. Despite improvements in the standard of neonatal care with the use ofhigh technology, the commonest cause of certified deaths still occur in the neonatal period. A rapid and inexpensive screening test for G6PD deficiency, a disease present in 2-3% of the population, is now widely available and, together with the use of phototherapy is largely responsible for the declining incidence of kernicterus in the country. Infections remain an important cause of morbidity and mortality although their patterns have changed. The very high (>95%) WHO-EPI-vaccines coverage rate is linked to the great reduction in the incidence of diphtheria, pertussis, tetanus, poliomyelitis and measles. Childhood tuberculosis is less common now, with about 250 - 300 reported cases per year and TB meningitis is rare with about 30-40 reported cases/year. The hepatitis B carrier rate is high (5%) and the introduction of routine newborn hepatitis B vaccination in 1989 is expected to have a positive impact as is the immunisation of young girls against rubella introduced in 1985 in reducing the incidence of congenital rubella syndrome. The incidence of malaria has declined but remains prevalent in the interiors of PeninsularMalaysia and in Sabah and Sarawak. Filariasis is largely under control. Unfortunately, despite great efforts at mosquito control, dengue virus infection remains a major problem with thousands of cases reported every year. Children are most susceptible to dengue haemorrhagic fever with many dying from the shock syndrome. The incidence of acute gastroenteritis has also dropped with most cases being due to a viral aetiology. Acute respiratory infections, mostly viral in origin, account for most attendances at paediatric outpatient services. Although staphylococcal and streptococcal impetigo and pneumonia are common, the incidence of streptococcal related diseases like rheumatic fever and acute glomendonephritis is rapidly declining. The nutritional status of children has improved in tandem with the rise in the standard of living, but subclinical malnutrition is prevalent, particularly among urban squatters and the rural poor. There is a disturbing decline in breastfeeding among urban working mothers. Poor weaning practices and food habits are responsible for the common occurrence of nutritional anaemia (5%) among infants and young children. Greater prosperity, rapid industrialisation and urbanisation have resulted in changes in the childhood disease pattern where non-communicable diseases assume greater importance as the problems of malnutrition and infection are gradually overcome. Road traffic accidents are a major killer and home accidents, largely preventable, are an important cause of morbidity and mortality. Childhood cancer, with about 550 new cases a year, is an important cause of death beyond infancy. Major congenital malformations, with a 1% prevalence rate, cause much ill-health. Thalassaemia is a particularly common genetic disease with fl thalassaemia gene frequency of about 5%. The prevalence of asthma is increasing, with a rate of 13.9% in the Kiang Valley but the prevalence of asthma-related symptoms is much higher. Physical, sexual child abuse and neglect, abandoned babies, substance abuse are but signs of stress of modern city living and peoples inability to cope with it. Although the general standard of child health has greatly improved, there are several states where it is still not satisfactory. In Sabah where there is a large illegal immigrant population, the infant mortality and infection rates are relatively high. In Kelantan and Trengganu, it is common for parents to refuse permission for a lumbar puncture required to treat meningitis. Other still deeply entrenched, culturally-related adverse health practices include : a fatalistic attitude to illness; a preference for traditional practitioners of medicine resulting in late treatment; and 'doctor-hopping' with unrealistic expectations of 'instant cure'. Childhood illnesses that are uncommon in Malaysia include: cystic fibrosis, coeliac disease, ulcerative colitis, Crohns disease, Sudden Infant Death Syndrome, Encopresis, enuresis and epiglottitis due to Haemophilus Influen:ae.

Matched MeSH terms: Congenital Abnormalities; Rubella Syndrome, Congenital
Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents

Azurah AG, Zainuddin AA, Jayasinghe Y

J Reprod Med, 2013 Jul-Aug;58(7-8):324-36.
PMID: 23947083

Amenorrhea is a common menstrual problem seen in adolescents. Amenorrhea has been shown to have a negative impact on adolescents' quality of life. In this paper we discuss the various causes and investigations of amenorrhea in adolescents and address management dilemmas for specific conditions. Specific approaches in dealing with adolescents using the HEADSS (Home, Education, Activity, Drugs, Sexual activity, Suicidal) approach are discussed.

Matched MeSH terms: Congenital Abnormalities

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