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Fulltext A Case of Congenital Syphilis Presenting with Unusual Skin Eruptions

Leung AKC, Leong KF, Lam JM

Case Rep Pediatr, 2018;2018:1761454.
PMID: 29770234 DOI: 10.1155/2018/1761454

Once believed to be a rare disease in developed countries, recent data suggest that there is a surge in incidence of congenital syphilis in many developed countries. Diagnosis of congenital syphilis can be difficult because more than two-thirds of affected infants are asymptomatic at birth, and signs of symptomatic infants may be nonspecific or subtle. On top of this, some affected infants may have atypical presentations. Familiarity with the diverse presentations is essential to diagnosis. We report a 2-week-old male infant with congenital syphilis whose cutaneous manifestations included diffuse, erythematous keratoderma with desquamation and fissures on his hands and feet, multiple linear scaly fissures at the angles of his mouth, and onychauxis of the fingernails and toenails To our knowledge, diffuse, erythematous keratoderma of the hands and feet and thick nails have not been reported previously in congenital syphilis.

Matched MeSH terms: Syphilis, Congenital
Stenting of Lesions in Patent Ductus Arteriosus with Duct-Dependent Pulmonary Blood Flow: Focus on Case Selection, Techniques and Outcome

Alwi M, Mood MC

Interv Cardiol Clin, 2013 Jan;2(1):93-113.
PMID: 28581990 DOI: 10.1016/j.iccl.2012.09.011

Stenting of patent ductus arteriosus (PDA) is an attractive alternative to the surgical aortopulmonary shunt in the palliation of cyanotic congenital heart disease. However, the diverse morphology of PDA in this setting limits its role, as stenting an overly tortuous duct may not be feasible, and in a significant number of patients, ductus-related pulmonary artery stenosis contraindicates this procedure. The major acute complications are stent migration, thrombosis, and cardiac failure. Early failure of palliation caused by in-stent stenosis is another limitation of this procedure.

Study site: Institut Jantung Negara (IJN), Kuala Lumpur, Malaysia

Matched MeSH terms: Heart Defects, Congenital
Discovery of coarctation of the aorta following renal doppler sonography

Sidney Ong CL, Ch'ng LS, Aida Bt AA

Med J Malaysia, 2018 10;73(5):330-331.
PMID: 30350816 MyJurnal

Coarctation of the aorta (CoA) is present in 0.4% of live births and in 7% of patients with congenital heart disease. While there may be florid presentations of congestive heart failure in the neonatal period, the diagnosis during adulthood is often delayed. We encountered a 20-year-old woman who was discovered to be hypertensive on routine check-up. Following bilateral abnormal renal doppler sonography, MR angiogram revealed a short-segment stenosis of the descending thoracic aorta. Review of her chest radiograph showed a small aortic knuckle. This case highlights an unconventional algorithm in diagnosing aortic coarctation in adulthood.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Humanitarian Mission in Pediatric Cardiothoracic Surgery: A Recipient's Perspective

Mohd Zain MR, Shamsuddin AM, Mamat AZ, Mokhtar AM, Ali S, Chen YC, et al.

Front Pediatr, 2019;7:230.
PMID: 31231625 DOI: 10.3389/fped.2019.00230

Introduction: Pediatric cardiac surgical mission programs are deemed as common practice, especially in developing nations funded by international non-governmental organizations (NGOs). This article presents and discusses the results and strategies implemented by this partnership, aiming at achieving the autonomy of the local center by this collaboration. Materials and Methods: A retrospective review was conducted on patients with congenital heart disease who underwent surgical intervention from the beginning of the NGO collaboration (September 2015) until November 2018 in an existing cardiac center. In between those visits, any congenital heart disease patient with Risk Adjustment Congenital Heart Surgery (RACHS)-1 Category 1-3 would be discussed in a local multi-disciplinary meeting with regards to the feasibility of the surgery being performed by the local members. Results: A total of 60 operations were performed during the trips. Throughout the visit, 46% (28) of the operations were performed by the local surgeon, with or without assistance from the visiting surgeon. Between September 2015 and November 2018, 27 cases were also performed by the local team independently. For the 27 cases performed by the local team independently, the median age of the patient was 42 days (ranging from 14 days to 20 years old), with median body weight of 3.2 kg (ranging from 2.8 to 64 kg). Conclusion: Humanitarian pediatric cardiac surgical missions are safe to be done for the population in need. In order to achieve autonomy, continuous efforts by both teams are crucial, as the cooperation by the two parties ensures that the objectives are achieved.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Comparison of Interobserver Reliability between Junior and Senior Resident in Assessment of Developmental Dysplasia of The Hip Severity using Tonnis and International Hip Dysplasia Institute Radiological Classification

Ismiarto YD, Agradi P, Helmi ZN

Malays Orthop J, 2019 Nov;13(3):60-65.
PMID: 31890112 DOI: 10.5704/MOJ.1911.010

Introduction: The radiographic classification for developmental dysplasia of hip to quantify the severity of disease consist of Tonnis and International Hip Dysplasia Institute (IHDI) classification. The Ossification center of the femoral head in DDH patient more than six months is still vague or eccentric, so the reliability of both classifications is still in question and especially is influenced by the experience of the observer. This study aims to test and compare interobserver reliability in evaluation of DDH patients using IHDI and Tonnis classification assessed by senior and junior orthopaedic residents which had different degree of experience. Materials and Methods: This study used retrospective analysis of pelvic supine AP view radiograph of DDH patients from 2014 to 2017. All three observer groups analysed the pelvis radiographs using Tonnis and IHDI classification. Inter and intra-observer reliability was measured by Cohen's and Fleiss Kappa method, respectively. Results: The Fleiss Kappa value for 15 radiographs of DDH patients assessed by senior residents using Tonnis and IHDI classification are 0.715 and 0.832 and result of Fleiss Kappa value assessed by junior residents are 0.577 and 0.845, respectively. Intra-observer reliability for Tonnis classification was lower in junior group compared to other two groups but showed almost perfect value in all groups for IHDI classification. Conclusion: Significantly different results were noted between junior and senior residents in assessing DDH severity, with higher diagnostic reliability in senior residents compared to junior residents. In general, junior resident has less clinical experiences in many aspects in comparison with the seniors.

Matched MeSH terms: Hip Dislocation, Congenital
Type B patent ductus arteriosus

Wong A, Shahboden M, Pauzi W, Ibrahim W

Pediatr Cardiol, 2007 Jan-Feb;28(1):74-5.
PMID: 17318711 DOI: 10.1007/s00246-006-1398-9
Matched MeSH terms: Heart Defects, Congenital
Recombinant proteins in the diagnosis of toxoplasmosis

Kotresha D, Noordin R

APMIS, 2010 Aug;118(8):529-42.
PMID: 20666734 DOI: 10.1111/j.1600-0463.2010.02629.x

Toxoplasma gondii is an important human pathogen with a worldwide distribution. It is primarily of medical importance for pregnant women and immunocompromised patients. Primary infection of the former is often associated with fetal infection, which can lead to abortion or severe neonatal malformation. Immunocompromised patients are at risk of contracting the severe form of the disease that may be fatal. Thus, detection of T. gondii infection with high sensitivity and specificity is crucial in the management of the disease. Toxoplasmosis is generally diagnosed by demonstrating specific immunoglobulin M (IgM) and IgG antibodies to toxoplasma antigens in the patient's serum sample. Most of the commercially available tests use T. gondii native antigens and display wide variations in test accuracy. Recombinant antigens have great potential as diagnostic reagents for use in assays to detect toxoplasmosis. Thus in this review, we address recent advances in the use of Toxoplasma recombinant proteins for serodiagnosis of toxoplasmosis.

Matched MeSH terms: Toxoplasmosis, Congenital/diagnosis
Congenital cyanotic heart disease with situs inversus totalis: an autopsy case report

Dayapala A, Kumar V

Am J Forensic Med Pathol, 2009 Jun;30(2):171-4.
PMID: 19465810 DOI: 10.1097/PAF.0b013e3181875a79

Sudden deaths because of congenital heart diseases are infrequently referred to the forensic pathologist for autopsy. Many of such deaths, if already diagnosed are released directly from the hospital without autopsy. Even forensic pathologists face a few difficulties in performing the autopsy on such infrequent cases, as they are not always updated with the anatomy of anomalies. While dealing with such cases, the concerned forensic pathologist is compelled to refer literature and textbooks again to understand the nature of developmental defects. This is especially so when dealing with cases of situs inversus accompanied by transposition of great arteries and other congenital cardiac abnormalities and variants such as single ventricle, double outlet right ventricle, Taussig-Bing variety etc. In the present case also, situs inversus with transposition of great vessels and other anomalies have been noted and studied.

Matched MeSH terms: Heart Defects, Congenital/pathology*
Eikenella corrodens from a brain abscess

Karunakaran R, Marret MJ, Hassan H, Puthucheary SD

Malays J Pathol, 2004 Jun;26(1):49-52.
PMID: 16190107

A 2-year-old boy with underlying congenital cyanotic heart disease presented with seizures and fever and was found to have bilateral parietal cerebral abscesses. Drainage of the pus from the abscesses was done in stages; on the day of admission, four days after admission and 3 weeks after admission. Although the pus from the first drainage did not grow any organisms, the pus from the second drainage on the fourth day of admission yielded a mixed growth of Eikenella corrodens and Streptococcus milleri. Following the second drainage of pus, the child was noted to have mild weakness (grade 3/5) and increased tone in the left upper limb. Three weeks after admission, due to recurring fever, further neurological signs and findings of an enlarging right cerebral abscess on a repeat CT scan, a third drainage was carried out. However no growth was obtained from this specimen. This patient was managed both surgically and with appropriate antibiotics. Over the next four months, serial CT scans revealed gradual resolution of the abscesses with disappearance of the surrounding oedema. The child showed gradual recovery of his left sided weakness with resolution of tone and reflexes to normal.

Matched MeSH terms: Heart Defects, Congenital/complications
Kostmann's syndrome

Joazlina ZY, Wastie ML, Kamarulzaman A

Clin Imaging, 2005 Sep-Oct;29(5):364-6.
PMID: 16153548

Kostmann's syndrome is a rare congenital disorder of neutrophil production due to impairment of myeloid differentiation in the bone marrow, with the neutrophil count being characteristically less than 500 x 10(3) cells/l (normal: 2-7 x 10(9)/l). Severe persistent neutropenia results in an increased susceptibility to frequent bacterial infections. The condition can be treated with recombinant human granulocyte colony-stimulating factor (G-CSF). Although several articles have addressed the clinicopathological and haematological aspects of this disorder, little or no information has been available concerning the radiological findings in this disorder. This report summarizes the clinical features, radiological findings and management of a patient with Kostmann's syndrome.

Matched MeSH terms: Neutropenia/congenital
Usefulness and limitations of an in-house direct radioimmunoassay for 17-hydroxyprogesterone in serum

Lo MS, Ng ML, Wu LL, Azmy BS, Khalid BA

Malays J Pathol, 1996 Jun;18(1):43-52.
PMID: 10879224

Since conventional radioimmunoassays (RIA) for measurement of 17-hydroxyprogesterone (17-OHP) in serum samples require a laborious solvent extraction step, a direct and rapid in-house RIA was developed for early diagnosis and management of congenital adrenal hyperplasia (CAH). In-house rabbit anti-17-OHP antiserum, tritium labelled 17-OHP and dextran-coated charcoal were used in assay buffer with low pH 5.1 and preheated serum samples. Both inter- and intra-assay CVs were < 10% and the sensitivity was 1.2 nmol/l or 12 fmol/tube. Results from the direct assay correlated well with values from an extraction assay, r = 0.88 in samples from CAH patients, r = 0.85 in adults and children, 0.69 and 0.40 in term and preterm neonates respectively, 0.66 and 0.63 in luteal phase and third trimester pregnancy; p < 0.001 in all groups except p < 0.05 in preterm neonates. However, results from the direct assay were two to three times higher in serum samples from CAH patients, normal adults and children, but were five to seven times higher in pregnancy and term neonates and thirty times higher in preterm neonates. The markedly elevated levels measured by the direct assay are probably due to cross-reactivities with water-soluble steroid metabolites such as 17-hydroxypregnenolone sulphate and dehydroepiandrosterone sulphate (DHEAS). Although the direct assay is only useful as a screening test for preterm babies, it can be used for both diagnosis and monitoring of treatment of CAH in all other age groups.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/blood*
The Malaysian experience in the typing of genetic variants of alpha-1-antitrypsin

Desa NM, Ismail Z, Beran Z, Musa SH

Southeast Asian J. Trop. Med. Public Health, 1995;26 Suppl 1:311-4.
PMID: 8629132

It is known that alpha1-antitrypsin deficiency is associated with emphysema in adults and liver cirrhosis in neonates. The phenotypes PiZZ and PiSZ are considered to be high risk groups. alpha1-antitrypsin deficiency is one of the most common lethal congenital disorders in Europe and the USA, occurring in approximately 1 in 2,000 caucasians of North European descent. Studies in Malaysia have found that the phenotypes PiZ and PiS are present in our population. Out of 950 samples analyzed, it was found that 10 samples were shown to be apparently Z homozygous phenotype. The phenotype is determined by high resolution isoelectrofocusing on an ultra-thin polyacrylamide gel embedded with narrow range Pi phamarlyte. The isoelectrofocused bands are confirmed by immunofixation and the plasma alpha1-antitrypsin levels determined by electroimmunoassay. The abnormal phenotypes are further confirmed by polymerase chain reaction using allele specific oligonucleotides.

Matched MeSH terms: Jaundice/congenital
The bacteriology of brain abscess: a local experience in Malaysia

Puthucheary SD, Parasakthi N

Trans R Soc Trop Med Hyg, 1990 7 1;84(4):589-92.
PMID: 2091359

31 cases of intracranial abscess seen over a period of 10 years showed a peak incidence in the second and third decades of life with a male preponderance. Tetralogy of Fallot and other congenital cyanotic heart diseases were the predominant associated factors (32%). The commonest site of infection was the frontal lobe. Gram-stained smears of pus proved to be extremely useful. The majority of the organisms (82%) were either microaerophilic or anaerobic bacteria with Streptococcus milleri being the most frequent isolate. With the exception of Corynebacterium species, all isolates were susceptible to penicillin or chloramphenicol, most being susceptible to both.

Matched MeSH terms: Heart Defects, Congenital/complications
Combined team management of diabetes mellitus in pregnancy

Ng CS, Lim LS, Chng KP, Lim P, Cheah JS, Yeo PP, et al.

Ann Acad Med Singap, 1985 Apr;14(2):297-302.
PMID: 4037689

225 women with diabetes in pregnancy were managed by a team of obstetricians, physicians (endocrinologists) and paediatricians from the National University of Singapore. A protocol of management was formulated and followed. The incidence of 1.1% or 1 in 90 pregnancies was found, with significantly higher incidence in Indians and lower in Malays. There were 37 established diabetics and 188 diagnosed during pregnancy. Of these (188), 74 were gestational diabetics. All the women were treated with Insulin and Diet or Diet alone. 177 (79%) were treated with Insulin and Diet. Blood sugar profiles were done for monitoring diabetic control. 72.8% of the women were between para 0 and 1 and 85.2% between the ages of 20 and 34. 72.5% of the women delivered at 38 weeks gestation or later. 48.9% went into spontaneous labour, 32.4% were induced and 18.7% had elective caesarean section. 62.2% of the women had labour of less than 12 hours. The overall caesarean section rate was 41.7%. There were 3 stillbirths and 2 neonatal deaths. The perinatal mortality rate was 2.2%. Thirteen babies had congenital malformations (5.8%). 77.8% of the babies had Apgar score of 7 or more at 5 minutes after delivery. 79.1% of the babies weighed between 2.5 kgm and 3.9 kgm. Pre-eclamptic toxaemia was the commonest complication in pregnancy followed by Urinary Tract Infection and Polyhydramnios. Postpartum complications in the mother were confined to 14 women (6.2%), and wound infection or breakdown was the commonest cause.

Matched MeSH terms: Congenital Abnormalities/etiology
Fulltext Cardiac surgery in General Hospital, Kuala Lumpur: review of all open-heart operations. April 1982 to February 1987

Awang Y, Haron A, Sallehuddin A

Med J Malaysia, 1987 Jun;42(2):81-5.
PMID: 3503194

The Cardiothoracic Department, General Hospital, Kuala Lumpur which was set up in April 1982, deals with a wide range of cardiac disease, general thoracic and also vascular cases. A total of 2,450 operations were performed from April 1982 to February 1987, and 79.3% of these were for cardiac cases (open and closed heart). This paper reports a review of the 1,110 consecutive open heart operations performed by the Department during the stated period.

Matched MeSH terms: Heart Defects, Congenital/surgery
A case of congenital malaria in Malaysia with IgM malaria antibodies

Thomas V, Chit CW

Trans R Soc Trop Med Hyg, 1980;74(1):73-6.
PMID: 7001686

Congenital malaria from Malaysia is reported here for the first time. It occurred in a baby boy born to a 16-year-old primigravida who contracted Plasmodium falciparum infection during pregnancy. She suffered malaria during the later stages of pregnancy and at parturition. The placenta was heavily infested with various asexual stages of P. falciparum. Gametocytes were not seen. Extensive search did not show other species. Cord blood showed very light infection with young trophozoites of P. falciparum. Serological studies using IFA technique showed specific IgG and IgM antibodies to P. falciparum in maternal cord and two early neonatal sera. These serum samples showed lower levels of IgG antibodies against P. vivax and P. malariae, but there were no specific IgM antibodies against these species. The value of specific IgM antibody in the diagnosis of congenital malaria is discussed.

Matched MeSH terms: Malaria/congenital*
Cardiovascular disease in a West Malaysian town. A survey in general practice

Balasundaram R

Trans R Soc Trop Med Hyg, 1970;64(4):607-14.
PMID: 5485621 DOI: 10.1016/0035-9203(70)90085-4

The pattern and incidence of cardiovascular disease was studied in a general practice in an urban-rural area in the west coast of West Malaysia. Hypertension, rheumatic heart disease and congenital heart disease accounted for 85% of the 476 patients with evidence of cardiovascular disease. Ischaemic heart disease, arteriosclerotic heart disease and other conditions accounted for the rest. Emphasis is laid on the salient features of incidence in general practice. Comparison is made with previous clinical and pathological studies from this region.
Study site: General practjce clinic, Telok Anson [Teluk Intan], District of Lower Perak, Malaysia

Matched MeSH terms: Heart Defects, Congenital/epidemiology
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, et al.

J Hum Genet, 2019 Dec;64(12):1173-1186.
PMID: 31530938 DOI: 10.1038/s10038-019-0667-4

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.

Matched MeSH terms: Hand Deformities, Congenital/genetics*
Fulltext Gradual correction of proximal tibia deformity for Blount disease in adolescent and young adults

Saw A, Phang ZH, Alrasheed MK, Gunalan R, Albaker MZ, Shanmugam R

J Orthop Surg (Hong Kong), 2019 9 19;27(3):2309499019873987.
PMID: 31530084 DOI: 10.1177/2309499019873987

PURPOSE: Management of Blount disease in adolescents and young adults is complex and associated with high risk of morbidities. Gradual correction with external fixator can minimize soft tissue injury and allow subsequent adjustment in degree of correction. This study investigates the surgical outcome and complication rate of gradual correction of neglected Blount disease through single-level extra-articular corticotomy.
METHODS: Patients treated for Blount disease using external fixator from 2002 to 2016 were recruited for the study. We used Ilizarov and Taylor Spatial Frame (TSF) external fixator to perform simultaneous correction of all the metaphyseal deformities without elevating the tibia plateau. Surgical outcome was evaluated using mechanical axis deviation (MAD), tibial femoral angle (TFA), and femoral condyle tibial shaft angle (FCTSA).
RESULTS: A total of 22 patients with 32 tibias have been recruited for the study. The mean MAD improved from 95 ± 51.4 mm to 9.0 ± 37.7 mm (medial to midpoint of the knee), mean TFA improved from 31 ± 15° varus to 2 ± 14° valgus, and mean FCTSA improved from 53 ± 14° to 86 ± 14°. Mean duration of frame application is 9.4 months. Two patients developed pathological fractures over the distracted bones, one developed delayed consolidation and other developed overcorrection.
CONCLUSIONS: Correction of Blount disease can be achieved by gradual correction using Ilizarov or TSF external fixator with low risk of soft tissue complication. Longer duration of frame application should be considered to reduce the risk of pathological fracture or subsequent deformation of the corrected bone.

Matched MeSH terms: Osteochondrosis/congenital*
Fulltext Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635)

Roberts MS, Gafni RI, Brillante B, Guthrie LC, Streit J, Gash D, et al.

J. Bone Miner. Res., 2019 09;34(9):1609-1618.
PMID: 31063613 DOI: 10.1002/jbmr.3747

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). Individuals are hypocalcemic with inappropriately low parathyroid hormone (PTH) secretion and relative hypercalciuria. Calcilytics are negative allosteric modulators of the extracellular calcium receptor (CaR) and therefore may have therapeutic benefits in ADH1. Five adults with ADH1 due to four distinct CAR mutations received escalating doses of the calcilytic compound NPSP795 (SHP635) on 3 consecutive days. Pharmacokinetics, pharmacodynamics, efficacy, and safety were assessed. Parallel in vitro testing with subject CaR mutations assessed the effects of NPSP795 on cytoplasmic calcium concentrations (Ca2+i ), and ERK and p38MAPK phosphorylation. These effects were correlated with clinical responses to administration of NPSP795. NPSP795 increased plasma PTH levels in a concentration-dependent manner up to 129% above baseline (p = 0.013) at the highest exposure levels. Fractional excretion of calcium (FECa) trended down but not significantly so. Blood ionized calcium levels remained stable during NPSP795 infusion despite fasting, no calcitriol supplementation, and little calcium supplementation. NPSP795 was generally safe and well-tolerated. There was significant variability in response clinically across genotypes. In vitro, all mutant CaRs were half-maximally activated (EC50 ) at lower concentrations of extracellular calcium (Ca2+o ) compared to wild-type (WT) CaR; NPSP795 exposure increased the EC50 for all CaR activity readouts. However, the in vitro responses to NPSP795 did not correlate with any clinical parameters. NPSP795 increased plasma PTH levels in subjects with ADH1 in a dose-dependent manner, and thus, serves as proof-of-concept that calcilytics could be an effective treatment for ADH1. Albeit all mutations appear to be activating at the CaR, in vitro observations were not predictive of the in vivo phenotype or the response to calcilytics, suggesting that other parameters impact the response to the drug. © 2019 American Society for Bone and Mineral Research.

Matched MeSH terms: Hypoparathyroidism/congenital*

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