MyMedR

A case of pneumoperitoneum in a new-born child

Radhamanalan D, Isaac T

Med J Malaysia, 1979 Mar;33(3):272-3.

PMID: 522735

Matched MeSH terms: Pneumoperitoneum/congenital*

On consanguineous marriages and the genetic load

Chakraborty R, Chakravarti A

Hum Genet, 1977 Apr 07;36(1):47-54.

PMID: 870410

It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

Matched MeSH terms: Congenital Abnormalities/epidemiology

"Ante-natal diagnosis of central nervous system malformations"

Yew CW

Med J Malaysia, 1977 Mar;31(3):232-5.

PMID: 904518

Matched MeSH terms: Congenital Abnormalities/diagnosis

Fulltext Ischaemic gangrene of leg due to ring constriction: a case report

Thambi Dorai CR

Med J Malaysia, 1986 Jun;41(2):173-5.

PMID: 3547051

An infant with bilateral congenital ring constrictions in the legs presenting with ischaemic gangrene of one leg is reported. The ischaemia was precipitated by greenstick fracture, the constriction ring producing a 'tourniquet effect' on the swollen tissues. Prophylactic release of deep annular constrictions is advised to prevent complications.

Matched MeSH terms: Ischemia/congenital*

Bilateral ovarian cysts in a newborn: a case report

Lim CT, Wong KK, Yap YF, Sivanesaratnam V

Asia Oceania J Obstet Gynaecol, 1992 Mar;18(1):19-22.

PMID: 1627057

Large ovarian cysts in the fetus are uncommon. Ultrasonography has helped in the detection of these cysts antenatally and in the newborn female infant. A case of bilateral ovarian cysts in a newborn is presented. The choice of management between conservative measures and surgical approaches remains controversial.

Matched MeSH terms: Polycystic Ovary Syndrome/congenital*

Fulltext The leopard (multiple lentigines) syndrome: a case report

Ting HC, Ng SC

Med J Malaysia, 1983 Jun;38(2):98-101.

PMID: 6621454

A case of the leopard (multiple lentigines) syndrome is described. To our knowledge this is the first documented case of this rare but interesting syndrome to be reported in this country.

Matched MeSH terms: Heart Defects, Congenital/complications*

Endemic goitre in Sarawak, Malaysia: I. Somatic growth and aetiology

Maberly GF, Eastman CJ

Southeast Asian J Trop Med Public Health, 1976 Sep;7(3):434-42.

PMID: 1030847

A comparative epidemiological and anthropometric survey was conducted among Ibans, the largest indigenous ethnic group in Sarawak, in three regions where the endemicity of goitre exhibited marked differences , to assess the effect of endemic goitre on somatic growth. In the Ai river region the prevalence of goitre was 99.5%; 35% having grade 3 goitres, 55% grade 2 goitres and 9.5% grade 1 goitres. At Rubu the prevalence of endemic goitre was 74%; 3% having grade 3 goitre, 16% grade 2 goitre and 55% grade 1 goitre. In the Bajong region relatively few people were detected with goitre and most of these had migrated from other regions. Neurological cretinism was estimated at 3.6% in the severely goitrous Ai river population but was not detected in the other regions. Anthropometric data obtained from the three adult populations did not reveal any statistically significant differences in the following parameters: weight, height, weight/height ratio, height/sitting height ratios, head circumference, scapular skinfold thickness and left mid arm muscle circumference. The haemoglobin, serum total protein and serum albumin concentrations were similar in the three populations. It is concluded that endemic goitre occurs with a frequency of close to 100% in certain Iban populations which represents one of the highest incidences of endemic goitre in the world. Neurological cretinism is common in this population. Our observations suggest that body proportions and somatic growth do not vary among similar ethnic populations exhibiting greatly different endemicity of goitre. Although no iodine balance studies were performed, assessment of diets suggested that iodine deficiency is a significant contributory factor in the development of endemic goitre in Sarawak. Urgent attention to iodine supplementation is indicated to prevent the development of endemic goitre and neurological cretinism.

Matched MeSH terms: Congenital Hypothyroidism/epidemiology

Fulltext Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies

Daud AN, Bergman JE, Oktora MP, Kerstjens-Frederikse WS, Groen H, Bos JH, et al.

PLoS One, 2017;12(3):e0173530.

PMID: 28288183 DOI: 10.1371/journal.pone.0173530

BACKGROUND: A number of transporter proteins are expressed in the placenta, and they facilitate the placental transfer of drugs. The inhibition of P-glycoprotein (P-gp) was previously found to be associated with an increase in the risk of congenital anomalies caused by drug substrates of this transporter. We now explore the role of other placental transporter proteins.

METHODS: A population-based case-referent study was performed using cases with congenital anomalies (N = 5,131) from EUROCAT Northern Netherlands, a registry of congenital anomalies. The referent population (N = 31,055) was selected from the pregnancy IADB.nl, a pharmacy prescription database.

RESULTS: Ten placental transporters known to have comparable expression levels in the placenta to that of P-gp, were selected in this study. In total, 147 drugs were identified to be substrates, inhibitors or inducers, of these transporters. Fifty-eight of these drugs were used by at least one mother in our cases or referent population, and 28 were used in both. The highest user rate was observed for the substrates of multidrug resistance-associated protein 1, mainly folic acid (6% of cases, 8% of referents), and breast cancer resistance protein, mainly nitrofurantoin (2.3% of cases, 2.9% of referents). In contrast to P-gp, drug interactions involving substrates of these transporters did not have a significant effect on the risk of congenital anomalies.

CONCLUSIONS: Some of the drugs which are substrates or inhibitors of placental transporters were commonly used during pregnancy. No significant effect of transporter inhibition was found on fetal drug exposure, possibly due to a limited number of exposures.

Matched MeSH terms: Congenital Abnormalities/metabolism*

Dystocia caused by congenital hydronephrosis

Ng KH, Sivanesan S

Med J Malaysia, 1973 Dec;28(2):118-9.

PMID: 4276267

Matched MeSH terms: Hydronephrosis/congenital*

An unusual cause of hypothyroidism (following excision of lingual thyroid) in a Chinese boy

Cheah JS, Loh FK

Med J Malaysia, 1973 Mar;27(3):217-9.

PMID: 4268928

Matched MeSH terms: Congenital Abnormalities/surgery

Chronic haemolytic anaemia; a report of three cases of Cooley's anaemia and five cases of acholuric jaundice seen in Malaya with a discussion on the differential diagnosis

FIELD CE, TAN EE

Med J Malaya, 1955 Sep;10(1):60-82.

PMID: 13287496

Matched MeSH terms: Anemia, Hemolytic, Congenital/diagnosis*

Fulltext Anomalous right pulmonary artery from aorta, surgical approach case report and literature review

Alhawri K, Alakhfash A, Alqwaee A, HassabElnabi M, Ahmed F, Alhawri M, et al.

J Card Surg, 2021 Aug;36(8):2890-2900.

PMID: 34047395 DOI: 10.1111/jocs.15618

BACKGROUND: Anomalous origin of one pulmonary artery from the aorta is a rare congenital anomaly affecting the right pulmonary artery more than the left. These patients are at risk for the early development of significant pulmonary hypertension. Early surgical treatment has been proven safe with excellent results. The surgical approach and technique is challenging and should be decided ahead before the patient to surgery. Different techniques were described including direct reimplantation, conduit interposition, aortic ring flap.

AIM: We present a neonate with anomalous origin of the right pulmonary artery from the aorta and discuss the surgical technique and complications in the literature.

Matched MeSH terms: Heart Defects, Congenital*

Fulltext Gangrenous small bowel obstruction secondary to congenital internal herniation: a case report

Tan YL, Alhagi MV

Med J Malaysia, 2012 Feb;67(1):118-20.

PMID: 22582563 MyJurnal

Congenital internal herniation is a rare condition presenting as recurrent abdominal pain or acute intestinal obstruction. In cases in which bowel incarceration or strangulation develop, rapid progression to bowel ischemia, necrosis or perforation is inevitable. Mortality in such cases has been reported to be as high as 50%. Despite advances in imaging modalities, arriving at a pre-operative diagnosis of a congenital internal herniation remains a challenge. We report such a case where imaging was unsuccessful in determining the cause of intestinal obstruction in a 3 year old child. Congenital internal herniation may result in disastrous consequences if not addressed in a timely fashion due to its rarity. Hence a high index of clinical suspicion is needed to avoid missing this diagnosis in a child presenting with recurrent abdominal pain or acute intestinal obstruction.

Matched MeSH terms: Hernia/congenital*

Fulltext Infected intraparenchymal bronchogenic cyst mimicking recurrent lung abscess in a young adult

Ramzisham AR, Johann KF, Talal AR, Joanna OS, Zamrin DM

Med J Malaysia, 2007 Dec;62(5):416-7.

PMID: 18705480 MyJurnal

A 23 year old female with a past history of a lung abscess diagnosed at the age of 13 years presented with recurrent episodes of productive cough. Chest radiograph and a high resolution CT scan of the thorax led to the diagnosis of a left lower lobe lung abscess. She underwent a successful thoracotomy and a left lower lobe lobectomy. Histopathological examination revealed the diagnosis of an infected congenital bronchogenic cyst. The recent literature on this is reviewed.

Matched MeSH terms: Bronchogenic Cyst/congenital

Fulltext Audit of newborn screening programme for congenital hypothyroidism

Zarina AL, Rahmah R, Bador KM, Ng SF, Wu LL

Med J Malaysia, 2008 Oct;63(4):325-8.

PMID: 19385494 MyJurnal

Newborn screening for congenital hypothyroidism (CH) was implemented in Hospital UKM in December 2004 using cord blood sample. From the audit over a period of 25 months, a total of 13,875 newborn babies were screened with a coverage of 98.8%. From this cohort, the mean recall rate was 0.32%; unfortunately the mean percentage of recalled babies that came for retesting was only 79.5%. In addition, the mean sample rejection rate was high, i.e. 2.2%. Two babies were diagnosed to have CH. These findings implied that whilst the coverage of screening was good, there is a need for regular surveillance of performance of both clinical and laboratory personnel. In addition, a more concerted effort should be carried out to promote community awareness of such a programme.

Matched MeSH terms: Congenital Hypothyroidism/diagnosis*

Fulltext A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption

Lee WS, Tay CG, Nazrul N, Paed M, Chai PF

Med J Malaysia, 2009 Mar;64(1):83-5.

PMID: 19852331 MyJurnal

A five-month-old Indian girl, product of consanguineous marriage, presented with diarrhoea with an onset within two days after birth, severe malnutrition and metabolic acidosis. The diarrhoea persisted even with lactose-free formula, amino acid-based formula and glucose-containing oral rehydration solution, but stopped when fasted. She required prolonged parenteral nutrition. Fructose and glucose tolerance tests were performed, confirming the child was able to absorb and metabolize fructose but not glucose, indicating a diagnosis of glucose-galactose malabsorption. This case illustrate how simple and pertinent clinical observations and laboratory investigations is sufficient to allow a firm diagnosis to be made.

Matched MeSH terms: Malabsorption Syndromes/congenital*

Fulltext Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar

Ruszymah BHI, Wahida IF, Zakinah Y, Zahari Z, Norazlinda MD, Saim L, et al.

Med J Malaysia, 2005 Aug;60(3):269-74.

PMID: 16379178

Twenty percent of all childhood deafness is due to mutations in the GJB2 gene (Connexin 26). The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in childhood deafness in Malaysia. We analyzed the GJB2 gene in 51 deaf students from Sekolah Pendidikan Khas Alor Setar, Kedah. Bidirectional sequencing indicates that 25% of our childhood deafness has mutation in their GJB2 gene. Sixty two percent of these children demonstrate V37I missense mutation. Interestingly, V37I mutation in the GJB2 gene have been reported as polymorphism in Western countries, however in our country it behaved as a potentially disease-causing missense mutation, causing childhood deafness as it was not found in the normal control.

Matched MeSH terms: Deafness/congenital

Fulltext Birth defects, the challenges ahead for Malaysia

Boo NY

Med J Malaysia, 2005 Oct;60(4):404-6.

PMID: 16570699

Matched MeSH terms: Congenital Abnormalities/prevention & control*

Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1

Nanda A, Sharaf A, Alsaleh QA

Pediatr Dermatol, 2011 4 22;27(6):669-70.

PMID: 21510010

Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.

Matched MeSH terms: Hand Deformities, Congenital/pathology*

Development of a low-serum medium for the production of monoclonal antibody against congenital adrenal hyperplasia by hybridoma culture

Chua GK

Prep Biochem Biotechnol, 2016 Oct 02;46(7):679-85.

PMID: 26760282 DOI: 10.1080/10826068.2015.1135450

Statistically designed experiments were used in developing a low-serum medium for the production of a diagnostic monoclonal antibody against congenital adrenal hyperplasia using hybridoma 192. A two-level half-fractional factorial design was used for screening six components (Minimum Essential Medium Eagle amino acids, 2-mercaptoethanol, ethanolamine, ferric citrate, zinc sulfate, and sodium selenite). The experimental design was then augmented to central composite design. The basal Dulbecco's modified Eagle's medium (DMEM; containing 4 mM L-glutamine, 1% antibiotic-antimycotic agent) supplemented with 0.4% by volume fetal bovine serum (FBS), 311.8 mM ferric citrate, 17.3 nM sodium selenite, and 4.5 mM zinc sulfate (LSD) was found to support the growth of the hybridoma. Specific cell growth rate in the LSD (0.033 ± 0.001/h) was slightly lower than in the control medium (i.e., basal DMEM supplemented with 2% FBS; 0.0045 ± 0.003/h). Nevertheless, the specific MAb production rate for LSD was higher (0.057 ± 0.015 pg/cell · h versus 0.004 ± 0.002 pg/cell · h in LSD and control, respectively). The antibody produced in the LSD showed high specificity and no cross-reactivity with the other structural resemblance's steroid hormones, revealing no structural changes owing to the new medium formulation developed. The new medium formulation effectively reduced the medium cost by up to 64.6%.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/immunology*

Displaying publications 81 - 100 of 336 in total