MyMedR

Kinematic comparison of the wrist movements that are possible with a biomechatronics wrist prosthesis and a body-powered prosthesis: a preliminary study

Abd Razak NA, Abu Osman NA, Wan Abas WA

Disabil Rehabil Assist Technol, 2013 May;8(3):255-60.

PMID: 22830946 DOI: 10.3109/17483107.2012.704654

This study examined the kinematic differences between a body-powered prosthesis and a biomechatronics prosthesis as a transradial amputee performed activities that involve flexion/extension and supination/pronation of the wrist.

Matched MeSH terms: Upper Extremity Deformities, Congenital/rehabilitation*

Fulltext Congenital cholesteatoma: delayed diagnosis and its consequences

Goh BS, Faizah AR, Salina H, Asma A, Saim L

Med J Malaysia, 2010 Sep;65(3):196-8.

PMID: 21939167

This is a retrospective review of congenital cholesteatoma cases that were managed surgically. There were 5 cases. The age of presentation ranged from 5 to 18 year old. Three patients presented with complication of the disease. Three patients had intact tympanic membrane, two had perforation at the anterior superior quadrant. All patients had cholesteatoma medial to tympanic membrane. Four cases had extensive ossicular erosion with preoperative hearing worse than 40 dB. Four cases underwent canal wall down mastoid surgery and one underwent canal wall up surgery. One patient had recurrence which required revision surgery. In conclusion, congenital cholesteatoma presented late due to the silent nature of disease in its early stage. Extensive disease, ossicular destruction with risk of complication at presentation were marked in our study. Hence, more aggressive surgical intervention is recommended in the management of congenital cholesteatoma.

Matched MeSH terms: Cholesteatoma, Middle Ear/congenital*

Seroprevalence of cytomegalovirus infection in pregnant women and associated role in obstetric complications: a preliminary study

Saraswathy TS, Az-Ulhusna A, Asshikin RN, Suriani S, Zainah S

Southeast Asian J. Trop. Med. Public Health, 2011 Mar;42(2):320-2.

PMID: 21710852

The objective of this study was to determine the seroprevalence of cytomegalovirus (CMV) infections through antenatal screening data and the association of this virus with obstetric complications. Serum samples from 125 apparently healthy pregnant women sent for antenatal screening from various hospitals in Malaysia between January 2007 and December 2008, were examined for CMV specific IgM and IgG antibodies using an enzyme-linked immunosorbent assay method. Of the 125 pregnant women tested, anti-CMV IgG antibody was found in 105 (84%) of the cases and anti-CMV IgM in 9 cases (7.2%). Both CMV IgM and IgG were also found in another 37 women whose serum samples were sent for investigation of various obstetric complications: 17 cases of spontaneous abortions, 15 cases of fetal anomalies detected during ultrasound examination, 1 case of incomplete abortion, 3 cases with premature delivery of infant with congenital anomalies and 1 case of infertility. Our preliminary data which only represented a small study group has shown the prevalence of CMV infection among the local population and the association of CMV in obstetric complications.

Matched MeSH terms: Congenital Abnormalities/virology

The anomalous origin and branches of the obturator artery with its clinical implications

Jusoh AR, Abd Rahman N, Abd Latiff A, Othman F, Das S, Abd Ghafar N, et al.

Rom J Morphol Embryol, 2010;51(1):163-6.

PMID: 20191138

The obturator artery (OA) originates from the internal iliac artery. Variation in the origin of the OA may be asymptomatic in individuals and occasionally be detected during routine cadaveric dissections or autopsies. In the present study, we observed the origin and the branching pattern of the OA on 34 lower limbs (17 right sides and 17 left sides) irrespective of sex. The bifurcation of the common iliac artery into internal and external iliac from the sacral ala varied between 4.3-5.3 cm. The distance of the origin of the anterior division of internal iliac artery from the bifurcation of common iliac artery varied between 1-6 cm. The distance of the origin of the posterior division of the internal iliac artery from the point of bifurcation of the common iliac artery varied between 0-6 cm. Out of 34 lower limbs studied, two specimens (5.8%) showed anomalous origin of the OA originating from the posterior division of the internal iliac artery. Of these two, one limb belonged to the right side while the other was from the left side. The anomalous OA gave off an inferior vesical branch to the prostate in both the specimens. No other associated anomalies regarding the origin or branching pattern of the OA were observed. Prior knowledge of the anatomical variations may be beneficial for vascular surgeons ligating the internal iliac artery or its branches and the radiologists interpreting angiograms of the pelvic region.

Matched MeSH terms: Peripheral Vascular Diseases/congenital

Fulltext Functioning adrenal adenoma in association with congenital adrenal hyperplasia

Rohana AG, Ming W, Norlela S, Norazmi MK

Med J Malaysia, 2007 Jun;62(2):158-9.

PMID: 18705452 MyJurnal

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*

Fulltext Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease

Kanaheswari Y, Hamzaini AH, Wong SW

Med J Malaysia, 2008 Aug;63(3):251-3.

PMID: 19248702 MyJurnal

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hypertension due to CHF in childhood. A review of this rare association follows.

Matched MeSH terms: Liver Cirrhosis/congenital*

Rare anatomical variant: arterial circle in palm and at the base of the thumb

Vollala VR, Nagabhooshana S, Bhat SM, Rodrigues V, Rao M, Pamidi N, et al.

Rom J Morphol Embryol, 2008;49(4):585-7.

PMID: 19050813

In this article, we describe anomalous formation, distribution of superficial palmar arch and an arterial circle at the base of the thumb found during routine dissection classes in the right hand of a 45-year-old male cadaver. These variations are unique and provide significant information to surgeons dissecting the hand region.

Matched MeSH terms: Peripheral Vascular Diseases/congenital

Fulltext The pudendal thigh fasciocutaneous flap for vaginal atresia reconstruction

Azman WS, Halim AS, Samad IA

Med J Malaysia, 2005 Oct;60(4):505-7.

PMID: 16570718

Vaginal defects can either be congenital or acquired due to tumor or trauma. The reconstructions are aimed in producing a good physical and functional result with the least donor site morbidity. The pudendal thigh flap is a sensate fasciocutaneous flap based on the terminal branch of the superficial perineal artery, the continuation of the internal pudendal artery. Although various flaps have been described for vaginal reconstruction, the pudendal thigh flap offers a very attractive alternative.

Matched MeSH terms: Hematocolpos/congenital

Fulltext Large vestibular aqueduct syndrome

Dipak S, Prepageran N, Sazila AS, Rahmat O, Raman R

Med J Malaysia, 2005 Oct;60(4):489-91.

PMID: 16570713

Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients.

Matched MeSH terms: Hearing Loss, Sensorineural/congenital*

Fulltext Malignant myeloid transformation in a child with severe congenital neutropenia (Kostmann's syndrome)

Chong LA, Josephine P, Ariffin H

Med J Malaysia, 2006 Jun;61(2):236-8.

PMID: 16898320 MyJurnal

We report a case of a child with severe congenital neutropenia (Kostmann's syndrome) who was treated with daily prophylactic subcutaneous granulocyte colony-stimulating factor (G-CSF) from the age of eight to sixteen years before being discontinued for poor haematological and clinical response. She did not have a HLA-matched sibling to enable bone marrow transplantation. She subsequently developed acute megakaryoblastic leukemia at the age of 17 years and succumbed during induction chemotherapy. The role of G-CSF in the pathogenesis of her malignant transformation to AML is complicated as this disorder has a propensity for myelodysplasia or AML as part of its natural history.

Matched MeSH terms: Neutropenia/congenital*

Residual nonunion following vascularised fibular graft treatment for congenital pseudarthrosis of the tibia: a report of two cases

Sulaiman AR, Nordin S, Faisham WI, Zulmi W, Halim AS

J Orthop Surg (Hong Kong), 2006 Apr;14(1):64-6.

PMID: 16598090

Resection and reconstruction using a vascularised fibular graft is a viable alternative treatment for congenital pseudarthrosis of the tibia, although distal junctional nonunion and residual deformity are known complications that are difficult to treat. We illustrate 2 cases in which bony union was achieved following a technique using fibular grafting and intramedullary nailing, without additional bone grafting. This technique was feasible because of hypertrophy of the fibular graft.

Matched MeSH terms: Pseudarthrosis/congenital*

Right Ventricular Perforation Caused by a Pacing Catheter Two Weeks After Insertion in a Neonate With Congenital Atrioventricular Block

Ota N, Suzuki R, Latiff HA, Sivalingam S

Ann Thorac Surg, 2015 Oct;100(4):1471.

PMID: 26434454 DOI: 10.1016/j.athoracsur.2015.06.084

Matched MeSH terms: Atrioventricular Block/congenital

Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders

Karanth L, Barua A, Kanagasabai S, Nair S

Cochrane Database Syst Rev, 2015 Sep 09.

PMID: 26350784 DOI: 10.1002/14651858.CD009824.pub3

BACKGROUND: Congenital bleeding disorders can cause obstetric haemorrhage during pregnancy, labour and following delivery. Desmopressin acetate is found to be an effective drug which can reduce the risk of haemorrhage and can also stop bleeding in certain congenital bleeding disorders. Its use in pregnancy has been controversial. Hence beneficial and adverse effects of desmopressin acetate in these groups of pregnant women should be evaluated.This is an update of a Cochrane review first published in 2013.

OBJECTIVES: To determine the efficacy of desmopressin acetate in preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders.

SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Coaguopathies Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant and abstract books of conferences proceedings. We also searched for any randomised controlled trials in a registry of ongoing trials and the reference lists of relevant articles and reviews.Date of most recent search: 18 June 2015.

SELECTION CRITERIA: Randomised and quasi-randomised controlled trials investigating the efficacy of desmopressin acetate versus tranexamic acid or factor VIII or rFactor VII or fresh frozen plasma in preventing and treating congenital bleeding disorders during pregnancy were eligible.

DATA COLLECTION AND ANALYSIS: No trials matching the selection criteria were eligible for inclusion.

MAIN RESULTS: No trials matching the selection criteria were eligible for inclusion.

AUTHORS' CONCLUSIONS: The review did not identify any randomised controlled trials investigating the relative effectiveness of desmopressin acetate for bleeding during pregnancy in women with congenital bleeding disorders. In the absence of high quality evidence, clinicians need to use their clinical judgement and lower level evidence (e.g. from observational trials) to decide whether or not to treat women with congenital bleeding disorders with desmopressin acetate.Given the ethical considerations, future randomised controlled trials are unlikely. However, other high quality controlled studies (such as risk allocation designs, sequential design, parallel cohort design) to investigate the risks and benefits of using desmopressin acetate in this population are needed.

Matched MeSH terms: Blood Coagulation Disorders/congenital

Surgery for doubly committed ventricular septal defects

Shamsuddin AM, Chen YC, Wong AR, Le TP, Anderson RH, Corno AF

Interact Cardiovasc Thorac Surg, 2016 Aug;23(2):231-4.

PMID: 27170744 DOI: 10.1093/icvts/ivw129

OBJECTIVES: Doubly committed ventricular septal defects (VSDs) account for up to almost one-third of isolated ventricular septal defects in Asian countries, compared with only 1/20th in western populations. In our surgical experience, this type of defect accounted for almost three-quarters of our practice. To date, patch closure has been considered the gold standard for surgical treatment of these lesions. Our objectives are to evaluate the indications and examine the outcomes of surgery for doubly committed VSDs.

METHODS: Between October 2013, when our service of paediatric cardiac surgery was opened, and December 2014, 24 patients were referred for surgical closure of VSDs. Among them, 17 patients (71%), with the median age of 6 years, ranging from 2 to 9 years, and with a median body weight of 19 kg, ranging from 11 to 56 kg, underwent surgical repair for doubly committed defects. In terms of size, the defect was considered moderate in 4 and large in 13. Aortic valvular regurgitation (AoVR) was present in 11 patients (65%) preoperatively, with associated malformations found in 14 (82%), with 5 patients (29%) having two or more associated defects.

RESULTS: After surgery, there was trivial residual shunting in 2 patients (12%). AoVR persisted in 6 (35%), reducing to trivial in 5 (29%) and mild in 1 (6%). Mean stays in the intensive care unit and hospital were 2.6 ± 1.2 days, ranging from 2 to 7 days, and 6.8 ± 0.8 days, ranging from 6 to 9 days, respectively. The mean follow-up was 14 ± 4 months, ranging from 6 to 20 months, with no early or late deaths and without clinical deterioration.

CONCLUSIONS: The incidence of doubly committed lesions is high in our experience, frequently associated with AoVR and other associated malformation. Early detection is crucial to prevent further progression of the disease. Patch closure remains the gold standard in management, not least since it allows simultaneous repair of associated intracardiac defects.

Matched MeSH terms: Aortic Valve Insufficiency/congenital

The formation of human auricular cartilage from microtic tissue: An in vivo study

Ishak MF, See GB, Hui CK, Abdullah Ab, Saim Lb, Saim Ab, et al.

Int J Pediatr Otorhinolaryngol, 2015 Oct;79(10):1634-9.

PMID: 26250439 DOI: 10.1016/j.ijporl.2015.06.034

This study aimed to isolate, culture-expand and characterize the chondrocytes isolated from microtic cartilage and evaluate its potential as a cell source for ear cartilage reconstruction. Specific attention was to construct the auricular cartilage tissue by using fibrin as scaffold.

Matched MeSH terms: Congenital Microtia/therapy*

Bochdalek diaphragmatic hernia presenting with acute gastric dilatation

Quah BS, Hashim I, Simpson H

J Pediatr Surg, 1999 Mar;34(3):512-4.

PMID: 10211672

Congenital diaphragmatic hernia through the foramen of Bochdalek may present after infancy. A 21/2-year-old Malay girl presented with acute respiratory distress. Chest examination showed reduced chest expansion and decreased breath sounds on the left side. Chest radiograph showed a large "cyst" in the left chest, which was thought to be a lung cyst under tension. Tube thoracostomy resulted in clinical improvement. Results of a barium study showed that the cyst perforated by the thoracostomy tube was the stomach, which had herniated through a Bochdalek diaphragmatic defect. Surgical repair of the diaphragmatic defect and closure of the perforated stomach was performed successfully. Congenital diaphragmatic hernia should be included in the differential diagnosis of respiratory distress in young children. Nasogastric tube placement must be considered as an early diagnostic or therapeutic intervention when the diagnosis is suspected.

Matched MeSH terms: Hernias, Diaphragmatic, Congenital*

Birth defects in the offspring of non-Caucasian, non-Indigenous women in Western Australia

Kwon S, Bower C, English D

Birth Defects Res. Part A Clin. Mol. Teratol., 2003 Jul;67(7):515-21.

PMID: 14565623

Birth defects in infants born to non-Caucasian, non-Indigenous mothers in Australia have not been described in detail previously.

Matched MeSH terms: Congenital Abnormalities/epidemiology*

Severe congenital rickets secondary to maternal hypovitaminosis D: a case report

Maiyegun SO, Malek AH, Devarajan LV, Dahniya MH

Ann Trop Paediatr, 2002 Jun;22(2):191-5.

PMID: 12070957

We report a full-term baby boy who presented soon after birth with severe congenital rickets. Maternal and neonatal vitamin D levels were very low and the infant responded well to oral vitamin D. Transient secondary hyperparathyroidism normalised on treatment. The mother's vitamin D deficiency was attributed to the region's cultural dress code which prevents exposure to sunlight. There has not been a previous report of severe congenital rickets from this region.

Matched MeSH terms: Rickets/congenital*

Fulltext Ectrodactary, ectodermal dysplasia, and cleft lip-palate syndrome

Choong YY, Norazlina B

Med J Malaysia, 2001 Mar;56(1):88-91.

PMID: 11503303

The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.

Matched MeSH terms: Limb Deformities, Congenital/complications*

Congenital esophageal stenosis: report of three cases, literature review, and a proposed classification

Ramesh JC, Ramanujam TM, Jayaram G

Pediatr Surg Int, 2001 Mar;17(2-3):188-92.

PMID: 11315285

The aim of this paper is to report three cases of congenital esophageal stenosis (CES) of different anatomical varieties: (1) stenosis due to tracheobronchial remnants (TBR) involving the lower third of the esophagus; (2) fibromuscular stenosis (FMS) of the middle third; and (3) a membranous diaphragm (MD) involving the lower third. The first two patients were treated by segmental resection of the esophagus and end-to-end anastomosis with dramatic relief of symptoms. The third responded to dilatation. CES is a rare lesion, and about 500 cases are reported in the literature. CES due to TBR and fibromuscular hypertrophy is considered a segmental stenosis, as it involves a length of the esophageal wall, whereas the MD consists of mucosal folds and does not involve its muscular layer. The clinical presentation is varied, and a high index of suspicion is essential to arrive at an early diagnosis. Management depends on the type and severity of the stenosis. Stenosis due to TBR requires segmental resection. FMS may respond to dilatation, but severe degrees of stenosis require segmental excision. MDs usually respond to dilatation or may require endoscopic excision. Segmental stenosis can occur as an isolated lesion or in association with esophageal atresia or stenosis due to a MD. Based on this observation, a classification of CES is proposed.

Matched MeSH terms: Esophageal Stenosis/congenital*

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