CONGENITAL HEART DISEASE, Issue 4 2007
Adam M. Sabbath MD
ABSTRACT A 24-year-old woman presented with a recent increase in dyspnea on exertion and development of presyncope. The patient stated that she has reproducible episodes of dizziness and near fainting when she climbs a flight of stairs and activity is limited to a slow gait. [source]

Asymptomatic Isolated Congenital Left Ventricular Muscular Diverticulum In An Adult: A Case Report

ECHOCARDIOGRAPHY, Issue 2 2003
Guoqian Huang M.D.
Congenital ventricular diverticulum is a very rare malformation in adults. We describe a 21-year-old male with a congenital muscular left ventricular diverticulum in the inferior wall. The lesion was suspected on two-dimensional transthoracic echocardiography; transesophageal echocardiography allowed clear detection of the diverticulum as well of mild mitral valve prolapse. The diagnosis was confirmed by cardiac catheterization. There were no other thoracoabdominal or cardiac anomalies, the patient was asymptomatic, and surgery was not deemed necessary. (ECHOCARDIOGRAPHY, Volume 20, February 2003) [source]

Congenital Left Ventricular Aneurysm

JOURNAL OF CARDIAC SURGERY, Issue 3 2010
Jian-ying Deng M.D.
(J Card Surg 2010;25:351) [source]

Surgical Repair of a Congenital Left Ventricular Aneurysm

JOURNAL OF CARDIAC SURGERY, Issue 1 2007
Mustafa Cikirikcioglu M.D., Ph.D.
A 9-year-old boy with complaints of dyspnea and palpitation was diagnosed with a left ventricular aneurysm originating from the left ventricle free wall. Aneurysm resection and endoventricular patch repair was performed. Postoperative follow-up was uncomplicated and follow-up echocardiographs showed normal left ventricular contractility. [source]

Congenital and neonatal varicella in Australia

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 2 2000
JM Forrest
Objective: To establish the incidence and severity of congenital and neonatal varicella in Australia. Methodology: Demographic and clinical details were obtained by postal questionnaire regarding cases notified to the Australian Paediatric Surveillance Unit by over 930 participating clinicians in 1995,97 inclusive. Results: Seven cases of congenital varicella (1 : 107 000 pregnancies/year) followed maternal infection at 8,26 weeks: five had defects, two did not. Four of the seven infants with congenital varicella developed herpes zoster in the first 15 months of life. Forty-four infants had neonatal varicella (1 : 17 000 pregnancies/year). Conclusion: There is an ongoing, albeit low, incidence of congenital and neonatal varicella in Australia. [source]

Pediatric Anogenital Warts: A 7-Year Review of Children Referred to a Tertiary-Care Hospital in Montreal, Canada

PEDIATRIC DERMATOLOGY, Issue 3 2006
Danielle Marcoux M.D.
Over a 7-year period, 72 patients under the age of 12 years were seen at our dermatology clinic for anogenital warts, corresponding to a prevalence of 1.7/1000 in our patient population. Sixty-four percent (46/72) were girls. Congenital, prenatal, ascending infections occurred in two subjects. The onset of anogenital warts occurred before age 2 in 28% and between 2 and 6 years of age in 62% of children and tended to be younger in boys. We identified unusual cutaneomucosal serotypes human papillomavirus 7 and 57 (three and eight instances, respectively). The modes of transmission of anogenital warts in children cannot be identified either by the clinical appearance of the lesions or by human papillomavirus typing. We conclude that the best way to identify possible sexual abuse is still by history taking, careful assessment of the socio-clinical context, and physical examination. [source]

Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs

BRITISH JOURNAL OF DERMATOLOGY, Issue 2 2009
K.M. Credille
Summary Background, Congenital, nonepidermolytic cornification disorders phenotypically resembling human autosomal recessive ichthyosis have been described in purebred dog breeds, including Jack Russell terrier (JRT) dogs. One cause of gene mutation important to humans and dogs is transposon insertions. Objectives, To describe an autosomal recessive, severe nonepidermolytic ichthyosis resembling lamellar ichthyosis (LI) in JRT dogs due to insertion of a long interspersed nucleotide element (LINE-1) in the transglutaminase 1 (TGM1) gene. Methods, Dogs were evaluated clinically, and skin samples were examined by light and electron microscopy. Phenotypic information and genotyping with a canine microsatellite marker suggested TGM1 to be a candidate gene. Genomic DNA samples and cDNA generated from epidermal RNA were examined. Consequences of the mutation were evaluated by Western blotting, quantitative reverse transcription-polymerase chain reaction (RT-PCR) and enzyme activity from cultured keratinocytes. Results, Affected dogs had generalized severe hyperkeratosis. Histological examination defined laminated to compact hyperkeratosis without epidermolysis; ultrastructurally, cornified envelopes were thin. Affected dogs were homozygous for a 1980-bp insertion within intron 9 of TGM1. The sequence of the insertion was that of a canine LINE-1 element. Quantitative RT-PCR indicated a significant decrease in TGM1 mRNA in affected dogs compared with wild-type. TGM1 protein was markedly decreased on immunoblotting, and membrane-associated enzyme activity was diminished in affected dogs. Conclusions, Based on morphological and molecular features, this disease is homologous with TGM1-deficient LI in humans, clinically models LI better than the genetically modified mouse and represents its first spontaneous animal model. This is the first reported form of LI due to transposon insertion. [source]

Respiratory epithelial orbital cysts

CLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 5 2002
Jared J Mee MB BS
Abstract Congenital or post-traumatic respiratory epithelial lined cysts of the orbit are very rare, and such cysts more commonly occur as mucocoeles secondary to chronic paranasal sinus disease. Four new cases of such cysts are described herein, three presumed choristomas and one occurring after trauma. Two of three presumed choristomatous (congenital) cysts occurred in sites that were atypical for the commoner dermoid cyst. One occurred in the superior orbit between the superior rectus and levator palpebrae superioris muscle and one in the temporal fossa and lateral orbit. The third choristomatous lesion occurred in the superotemporal orbit with a well-defined bony defect, a typical pattern of the commoner dermoid cyst. The fourth case, a presumed traumatic respiratory epithelial cyst, probably arose from ethmoidal sinus mucosa. Respiratory epithelial orbital cysts are very rare and may occur in sites that are atypical for the commoner orbital dermoid cyst. [source]

An Effective Treatment of Dark Lip by Frequency-Doubled Q-Switched Nd:YAG Laser

DERMATOLOGIC SURGERY, Issue 1 2001
Somyos Kunachak MD
Background. Dark lip is a common cosmetic problem in Southeast Asia. There is no known effective treatment. Objective. To propose an effective method for treating dark lips of varying causes with frequency-doubled Q-switched Nd:YAG laser. Methods. Seventy patients with dark lip, of which 22 were congenital, 24 acquired, and 24 of uncertain cause, were treated by frequency-doubled Q-switched Nd:YAG laser at a fluence of 2,3.5 J/cm2 (mode 2.5 J/cm2) after application of topical anesthesia. The endpoint of treatment was complete clearance of the pigment. Follow-up time was 24,36 months (mean 29 months). Results. All patients attained complete clearance of the lesion after an average of 2.5 treatments in the congenital group, 2.2 treatments in the acquired group, and 1.8 treatments in the group with uncertain etiology. The mean (±SD) number of treatments required by the whole group was 2.1 ± 1.4. Recurrence was observed in one case of congenital origin 3 months after the last treatment. In the remaining cases, results persisted up to the time of follow-up. Herpes simplex reactivation was noted in one case 3 days after treatment. There was no dyschromia, scar formation, or change of skin texture. Conclusion. Dark lip can be effectively treated by frequency-doubled Q-switched Nd:YAG laser without major adverse effects. [source]

Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2005
Anna-Karin Kroksmark PT Msc
This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (p=-0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended. [source]

Two-phase liquid culture system models normal human adult erythropoiesis at the molecular level

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2000
Sharon H. Pope
Abstract: We have studied the patterns of expression of various genes during maturation of normal human adult erythroid precursors cultured in a two-phase liquid culture method. In the first phase, peripheral blood mononuclear cells are cultured for one week in the presence of a combination of growth factors, but not erythropoietin (Epo). In Phase II, Epo is included in the medium. Cell samples were taken throughout phase II, and expression of globins, transcription factors, and cytokine receptors was assayed by RT-PCR and quantified by phosphor imaging. We have divided phase II into stages: early (days 0,5), intermediate (days 6,10) and late (days 11,15) and measured maximum expression of each gene. During early phase II, ,-globin, Sp1, and GATA-2 mRNAs were expressed at their highest levels. As the cells matured during the intermediate period, GATA-2 levels remained high, and then declined, while the transcription factors GATA-1, EKLF, NF-E2, and the Epo receptor (EpoR) reached maximum expression. In late phase II, ,-globin increased and reached its maximum level of expression. This erythroid culture system appears to recapitulate normal adult erythropoiesis at the molecular level, and thus may be a suitable model to examine the molecular basis of severe congenital or acquired disorders oferythropoiesis. [source]

The neural networks of music

EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2002
E. Baeck
Recent neuropsychological, transcranial Doppler sonographic, positron emission tomographic and functional nuclear magnetic resonance studies have indicated that musical perception is not dependent on the right hemisphere but on neural networks corresponding to the fundamental components of music in both hemispheres. In the brain there is no centre for music. Musicians have cerebral characteristics, anatomical as well as functional, which are correlated with the age at which they began their musical studies. This argues for cortical reorganization as a result of musical training. Whether these characteristics are to be ascribed to cortical plasticity alone, or to an innate structural property, or to both, remains an open question, however. Investigation of chromosomal defects, biochemical abnormalities and morphological features of congenital and degenerative brain diseases can provide further insight into the cerebral substrate of musicality. [source]

Safety update on the use of recombinant factor VIIa and the treatment of congenital and acquired deficiency of factor VIII or IX with inhibitors

HAEMOPHILIA, Issue 5 2008
T. ABSHIRE
Summary., Recombinant factor VIIa (rFVIIa, NovoSeven®) has been licensed for treatment of haemophilia with inhibitors in Europe since 1996 and in North America since 1999. Overall, approximately 1.5 million doses have since been administered. Safety data from licensure to April 2003 revealed 25 thromboembolic (TE) adverse events (AE) from over 700 000 doses given, a remarkably low incidence of TE events. Recent reports have cited a higher prevalence of TE events with rFVIIa use, especially when used off-label. This report reviews the TE and fatal events with use of rFVIIa for congenital and acquired haemophilia A or B from May 2003 to December 2006. Approximately 800 000 standard doses of rFVIIa have been administered during this time frame. All clinical trials, spontaneous and solicited reports, as well as a detailed literature review, were included in the data analysis. There were a total of 30 TE events and 6 TE-associated fatal events. Spontaneous reports captured 14/71 (20%) TE/AE and 2/34 TE-associated/total fatal events. From solicited reports, 5/40 (12.5%) were associated with a TE and 1/32 TE-associated fatal events. Literature review revealed 11/19 (58%) TE events and 3/6 TE-associated fatal events. Despite the use of high-dose rFVIIa (270 ,g kg,1) in some clinical trials and registries, rFVIIa appears safe, when used for congenital and acquired haemophilia. The prevalence of TE associated with rFVIIa use is less than 4/100 000 and a TE-associated fatal event is also extremely rare. However, use of rFVIIa for off-label indications should continue to be monitored closely via clinical trials and carefully designed registries. [source]

A randomized, double-blind trial demonstrating bioequivalence of the current recombinant activated factor VII formulation and a new robust 25°C stable formulation

HAEMOPHILIA, Issue 5 2007
B. V. BYSTED
Summary., Recombinant activated factor VIIa (rFVIIa) is a well-established treatment for bleeding episodes in patients with congenital or acquired haemophilia A or B with inhibitors to factors VIII and IX and patients with FVII deficiency. The aim of this trial was to demonstrate bioequivalence between the currently marketed (rFVIIa/NovoSeven®) and a new rFVIIa formulation (VII25) stable at up to 25°C. Furthermore, short-term safety and tolerability of VII25 and pharmacokinetics of both formulations were investigated. In this single-centre, randomized, double-blind, two-way cross-over trial, healthy male subjects received one intravenous bolus injection of rFVIIa and one of VII25, both at 90 ,g kg,1, in a randomized order 2,3 weeks apart. Mean VII25/rFVIIa ratio for area under the plasma activity-time curve from time 0 to last quantifiable activity (primary bioequivalence endpoint), was 0.93, 90% confidence interval (CI) (0.89,0.96), within the predefined bioequivalence range (0.80,1.25). Secondary pharmacokinetic parameters were comparable between formulations. No serious adverse events were observed. Six mild or moderate treatment-emergent adverse events were reported in five subjects. Coagulation-related parameter profiles were similar between rFVIIa and VII25. No clinically abnormal changes were observed for laboratory parameters and no subjects developed FVIIa antibodies. This trial demonstrated bioequivalence between the currently available rFVIIa and VII25 stable at up to 25°C. VII25's ,user-friendly' formulation removes the inconvenience of storing/transporting at 2,8°C, and as the drug substance is the same, the activity and safety established for rFVIIa is maintained. [source]

Haemostatic management of intraoral bleeding in patients with congenital deficiency of ,2-plasmin inhibitor or plasminogen activator inhibitor-1

HAEMOPHILIA, Issue 5 2004
Y. Morimoto
Summary., Haemostatic management of intraoral bleeding was investigated in patients with congenital ,2-plasmin inhibitor (,2-PI) deficiency or congenital plasminogen activator inhibitor- 1 (PAI-1) deficiency. When extracting teeth from patients with congenital ,2-PI deficiency, we advocate that 7.5,10 mg kg,1 of tranexamic acid be administered orally every 6 h, starting 3 h before surgery and continuing for about 7 days. For the treatment of continuous bleeding, such as post-extraction bleeding, 20 mg kg,1 of tranexamic acid should be administered intravenously, and after achieving local haemostasis 7.5 mg kg,1 of tranexamic acid should be administered orally every 6 h for several days. In addition, when treating haematoma caused by labial or gingival laceration or buccal or mandibular contusion, haemostasis should be achieved by administering 7.5,10 mg kg,1 of tranexamic acid every 6 h. Tranexamic acid can also be used for haemostatic management of intraoral bleeding in patients with congenital PAI-1 deficiency, but is less effective when compared with use in patients with congenital ,2-PI deficiency. Continuous infusion of 1.5 mg kg,1 h,1 of tranexamic acid is necessary for impacted tooth extraction requiring gingival incision or removal of local bone. [source]

The Spectrum of Myositis Ossiticans in Haemophilia

HAEMOPHILIA, Issue 2 2004
G. V. Massey
Summary., Myositis ossificans (MO) refers to non-neoplastic heterotopic soft tissue ossification that can have several aetiologies. Broadly it can be classified into three categories based on aetiology [1]. MO traumatica, the most common form occurs secondary to acute or chronic trauma. MO can also be associated with neurological disorders and in rare cases is congenital. The latter (progressive MO) is a genetic disorder in which congenital osseous abnormalities are associated with progressive soft tissue calcification. Despite an increased tendency to soft tissue bleeds, MO has been rarely reported in haemophilia. We treated three adolescents with haemophilia and MO of varying degrees of severity and outcome. [source]

New school in liver development: Lessons from zebrafish,

HEPATOLOGY, Issue 5 2009
Jaime Chu
There is significant overlap in the genes and pathways that control liver development and those that regulate liver regeneration, hepatic progenitor cell expansion, response to injury, and cancer. Additionally, defects in liver development may underlie some congenital and perinatal liver diseases. Thus, studying hepatogenesis is important for understanding not only how the liver forms, but also how it functions. Elegant work in mice has uncovered a host of transcription factors and signaling molecules that govern the early steps of hepatic specification; however, the inherent difficulty of studying embryogenesis in utero has driven developmental biologists to seek new systems. The rapidly developing vertebrate zebrafish is a favorite model for embryology. The power of forward genetic screens combined with live real-time imaging of development in transparent zebrafish embryos has highlighted conserved processes essential for hepatogenesis and has uncovered some exciting new players. This review presents the advantages of zebrafish for studying liver development, underscoring how studies in zebrafish and mice complement each other. In addition to their value for studying development, zebrafish models of hepatic and biliary diseases are expanding, and using these small, inexpensive embryos for drug screening has become de rigueur. Zebrafish provide a shared platform for developmental biology and translational research, offering innovative methods for studying liver development and disease. The story of hepatogenesis has something for everyone. It involves transcriptional regulation, cell-cell interaction, signaling pathways, control of cell proliferation and apoptosis, plus morphogenic processes that sculpt vasculature, parenchymal cells, and mesenchyme to form the multifaceted liver. Decades of research on liver development in mice and other vertebrates offer valuable lessons in how the multipotent endoderm is programmed to form a functional liver. Of equal importance are insights that have illuminated the mechanisms by which hepatic progenitors are activated in a damaged liver, how the adult liver regenerates, and, possibly, the basis for engineering liver cells in vitro for cell transplantation to sustain patients with liver failure. Moreover, processes that are key to liver development are often co-opted during pathogenesis. Therefore, reviewing hepatogenesis is informative for both basic and translational researchers. In this review, we bring to light the many advantages offered by the tropical freshwater vertebrate zebrafish (Danio rerio) in studying hepatogenesis. By comparing zebrafish and mice, we highlight how work in each system complements the other and emphasize novel paradigms that have been uncovered using zebrafish. Finally, we highlight exciting efforts using zebrafish to model hepatobiliary diseases. (HEPATOLOGY 2009.) [source]

Paediatric renal tumours: recent developments, new entities and pathological features

HISTOPATHOLOGY, Issue 5 2009
Neil J Sebire
Paediatric renal tumours represent a relatively common group of childhood solid neoplasms, in which both diagnosis and treatment are highly dependent on the histopathological findings. In addition to Wilms' tumour (nephroblastoma), a number of specific distinct entities are now reported, including (congenital) mesoblastic nephroma, clear cell sarcoma of the kidney, rhabdoid tumour of the kidney, specific paediatric variants of renal cell carcinoma, and others such as renal primitive neuroectodermal tumour and desmoplastic small round cell tumour. Recent advances in both molecular biological findings and immunohistochemistry allow reliable diagnosis of most of these entities even on the basis of small needle biopsy specimens. This review highlights both the salient features important for the diagnostic pathologist reporting such cases, and areas in which either new classifications or major advances in diagnostic criteria have occurred in recent years. [source]

Spontaneous rupture of non-parasitic hepatic cyst

INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2006
G. Poggi
Summary Intrahepatic cysts are generally classified as congenital, traumatic, infectious or neoplastic. Non-parasitic hepatic cysts (NPHCs) include simple cysts and adult polycystic liver disease in which the liver is diffusely occupied by cysts. NPHCs usually reach a large size before causing symptoms, unless a complication such as rupture, bleeding, infection, obstructive jaundice or neoplastic transformation occurs. We report the case of a 67-year-old man with spontaneous rupture of simple liver cyst. The clinical pictures and the unusual ultrasound features of this rare condition are discussed. [source]

Acquired localized cutis laxa confined to the face: case report and review of the literature

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 12 2004
Claudia Jimena Perafán Riveros MD
Background, Cutis laxa is an uncommon entity characterized by laxity of the skin, which hangs in loose folds, producing the appearance of premature aging. It can be subdivided into congenital and acquired. This latter variant is rare and the skin involvement varies from generalized to localized. We report a case of a localized acquired cutis laxa confined to the face, without preceding inflammatory lesions or systemic compromise. Four similar cases have been reported to date. The etiology remains unknown and there is no definitive treatment. Methods, A 27-year-old White woman came to our hospital with a wrinkled face, pendulous earlobes and drop eyelids. Changes began 5 years prior, and she appeared much older than her age. Results, Histological analysis and ultrastructural examination of skin biopsy revealed reduction and fragmentation of elastic fibers, confirming the diagnosis of cutis laxa. No systemic involvement was diagnosed. The patient was submitted to plastic surgery for repair, with satisfactory results to date. Conclusions, Acquired localized cutis laxa confined to the face without preceding inflammatory lesions is extremely rare. The etiology remains unknown. Clinical features and histopathologic findings confirm the diagnosis. Surgical repair seems to be the only therapeutic choice, but the results are variable and temporary. [source]

Nursing and midwifery management of hypoglycaemia in healthy term neonates

INTERNATIONAL JOURNAL OF EVIDENCE BASED HEALTHCARE, Issue 7 2005
Vivien Hewitt BSc(Hons) GradDipLib
Executive summary Objectives The primary objective of this review was to determine the best available evidence for maintenance of euglycaemia, in healthy term neonates, and the management of asymptomatic hypoglycaemia in otherwise healthy term neonates. Inclusion criteria Types of studies The review included any relevant published or unpublished studies undertaken between 1995 and 2004. Studies that focus on the diagnostic accuracy of point-of-care devices for blood glucose screening and/or monitoring in the neonate were initially included as a subgroup of this review. However, the technical nature and complexity of the statistical information published in diagnostic studies retrieved during the literature search stage, as well as the considerable volume of published research in this area, suggested that it would be more feasible to analyse diagnostic studies in a separate systematic review. Types of participants The review focused on studies that included healthy term (37- to 42-week gestation) appropriate size for gestational age neonates in the first 72 h after birth. Exclusions ,,preterm or small for gestational age newborns; ,,term neonates with a diagnosed medical or surgical condition, congenital or otherwise; ,,babies of diabetic mothers; ,,neonates with symptomatic hypoglycaemia; ,,large for gestational age neonates (as significant proportion are of diabetic mothers). Types of intervention All interventions that fell within the scope of practice of a midwife/nurse were included: ,,type (breast or breast milk substitutes), amount and/or timing of feeds, for example, initiation of feeding, and frequency; ,,regulation of body temperature; ,,monitoring (including screening) of neonates, including blood or plasma glucose levels and signs and symptoms of hypoglycaemia. Interventions that required initiation by a medical practitioner were excluded from the review. Types of outcome measures Outcomes that were of interest included: ,,occurrence of hypoglycaemia; ,,re-establishment and maintenance of blood or plasma glucose levels at or above set threshold (as defined by the particular study); ,,successful breast-feeding; ,,developmental outcomes. Types of research designs The review initially focused on randomised controlled trials reported from 1995 to 2004. Insufficient randomised controlled trials were identified and the review was expanded to include additional cohort and cross-sectional studies for possible inclusion in a narrative summary. Search strategy The major electronic databases, including MEDLINE/PubMed, CINAHL, EMBASE, LILACS, Cochrane Library, etc., were searched using accepted search techniques to identify relevant published and unpublished studies undertaken between 1995 and 2004. Efforts were made to locate any relevant unpublished materials, such as conference papers, research reports and dissertations. Printed journals were hand-searched and reference lists checked for potentially useful research. The year 1995 was selected as the starting point in order to identify any research that had not been included in the World Health Organisation review, which covered literature published up to 1996. The search was not limited to English language studies. Assessment of quality Three primary reviewers conducted the review assisted by a review panel. The review panel was comprised of nine nurses with expertise in neonatal care drawn from senior staff in several metropolitan neonatal units and education programs. Authorship of journal articles was not concealed from the reviewers. Methodological quality of each study that met the inclusion criteria was assessed by two reviewers, using a quality assessment checklist developed for the review. Disagreements between reviewers were resolved through discussion or with the assistance of a third reviewer. Data extraction and analysis Two reviewers used a data extraction form to independently extract data relating to the study design, setting and participants; study focus and intervention(s); and measurements and outcomes. As only one relevant randomised controlled trial was found, a meta-analysis could not be conducted nor tables constructed to illustrate comparisons between studies. Instead, the findings were summarised by a narrative identifying any relevant findings that emerged from the data. Results Seven studies met the inclusion criteria for the objective of this systematic review. The review provided information on the effectiveness of three categories of intervention , type of feeds, timing of feeds and thermoregulation on two of the outcome measures identified in the review protocol , prevention of hypoglycaemia, and re-establishment and maintenance of blood or plasma glucose levels above the set threshold (as determined by the particular study). There was no evidence available on which to base conclusions for effectiveness of monitoring or developmental outcomes, and insufficient evidence for breast-feeding success. Given that only a narrative review was possible, the findings of this review should be interpreted with caution. The findings suggest that the incidence of hypoglycaemia in healthy, breast-fed term infants of appropriate size for gestational age is uncommon and routine screening of these infants is not indicated. The method and timing of early feeding has little or no influence on the neonatal blood glucose measurement at 1 h in normal term babies. In healthy, breast-fed term infants the initiation and timing of feeds in the first 6 h of life has no significant influence on plasma glucose levels. The colostrum of primiparous mothers provides sufficient nutrition for the infant in the first 24 h after birth, and supplemental feeds or extra water is unnecessary. Skin-to-skin contact appears to provide an optimal environment for fetal to neonatal adaptation after birth and can help to maintain body temperature and adequate blood glucose levels in healthy term newborn infants, as well as providing an ideal opportunity to establish early bonding behaviours. Implications for practice The seven studies analysed in this review confirm the World Health Organisation's first three recommendations for prevention and management of asymptomatic hypoglycaemia, namely: 1Early and exclusive breast-feeding is safe to meet the nutritional needs of healthy term newborns worldwide. 2Healthy term newborns that are breast-fed on demand need not have their blood glucose routinely checked and need no supplementary foods or fluids. 3Healthy term newborns do not develop ,symptomatic' hypoglycaemia as a result of simple underfeeding. If an infant develops signs suggesting hypoglycaemia, look for an underlying condition. Detection and treatment of the cause are as important as correction of the blood glucose level. If there are any concerns that the newborn infant might be hypoglycaemic it should be given another feed. Given the importance of thermoregulation, skin-to-skin contact should be promoted and ,kangaroo care' encouraged in the first 24 h after birth. While it is important to main the infant's body temperature care should be taken to ensure that the child does not become overheated. [source]

Berend Houwen Memorial Lecture: ISLH Las Vegas May 2009

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2009
The pathogenesis, management of thrombotic microangiopathies
Summary Thrombotic microangiopathies are a relatively rare group of congenital and inherited disorders caused by defects in processing the ultra large forms of von Willibrand factor which pathologically give rise to platelet rich microthrombi in the micro arterial circulation leading to end organ damage particularly in the brain, heart and kidneys. Identification of the ADAMTS 13 gene has led to the definition of congenital deficiency of its activity or failure of activity due to the development of an inhibitory IgG antibody. The idiopathic autoimmune form of the disease is the most common. There are various subgroups of acquired TTP associated with HIV infection, pregnancy, pancreatitis, associated with bone marrow transplantation, various disseminated malignancies and certain drugs, particularly Clopidogrel. Diagnostic assays are now becoming widely available to identify ADAMTS 13 activity and also acquired antibodies to the enzyme. Mainline treatment is associated with daily plasma exchange with associated other immunosuppressant treatments particularly steroids and recently the use of Rituximab, a monoclonal anti-CD20 antibody. Despite improvement in treatment modalities there is still significant mortality of 10,20%, particularly if there is a delay in initiating plasma exchange. Relapse also occurs in 20,50% of patients although this may be improved by Rituximab therapy. [source]

Clinical approach to the patient with unexpected bleeding

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 2000
J. M. Teitel
Bleeding can be considered unexpected if it is disproportionate to the intensity of the haemostatic stress in a patient with no known haemorrhagic disorder or if it occurs in a patient in whom a bleeding disorder has been characterized but is adequately treated. A thorough history usually allows the clinician to predict reasonably accurately whether the patient is likely to have a systemic haemostatic defect (and if so whether it is congenital or acquired), or whether the bleeding likely has a purely anatomical basis. The nature of bleeding is instructive with respect to preliminary categorization. Thus, mucocutaneous bleeding suggests defects of primary haemostasis (disordered platelet,vascular interactions). Bleeding into deeper structures is more suggestive of coagulation defects leading to impaired fibrin clot formation, and delayed bleeding after primary haemostasis is characteristic of hyperfibrinolysis. Localized bleeding suggests an anatomical cause, although an underlying haemostatic defect may coexist. Where bleeding is so acutely threatening as to require urgent intervention, diagnosis and treatment must proceed simultaneously. In the case of minor haemorrhage (not threatening to life or limb) it may be preferable to defer therapy while the nature of the bleeding disorder is methodically investigated. Initial laboratory evaluation is guided by the preliminary clinical impression. The amount of blood loss can be inferred from the haematocrit or haemoglobin concentration, and the platelet count will quickly identify cases in which thrombocytopenia is the likely cause of bleeding. In the latter instance, examination of the red cell morphology, leucocyte differential, and mean platelet volume may allow the aetiological mechanism to be presumptively identified as hypoproliferative or consumptive. With regard to coagulation testing, the activated PTT, prothrombin time, and thrombin time usually constitute an adequate battery of screening tests, unless the clinical picture is sufficiently distinctive to indicate the immediate need for more focused testing. In any event, sufficient blood should be taken to allow more detailed studies to be done based on the results of these screening tests. These results will direct the need for further assays, such as specific clotting factor activity levels, von Willebrand factor assays, tests for coagulation inhibitors, platelet function assays, and markers of primary or secondary fibrinolytic activity. [source]

Thrombotic thrombocytopenic purpura: Results of the patients with thrombotic microangiopathies across Japan by ADAMTS13 analysis during 1998,2008

ISBT SCIENCE SERIES: THE INTERNATIONAL JOURNAL OF INTRACELLULAR TRANSPORT, Issue n2 2009
Y. Fujimura
Background, Thrombotic microangiopathies (TMAs) are pathological conditions, characterized by generalized microvascular occlusion by platelet thrombi, thrombocytopenia, and microangiopathic hemolytic anemia. Two typical phenotypes of TMAs are hemolytic-uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP). Severe deficiency of plasma ADAMTS13 activity (ADAMTS13:AC) is more specific for TTP but not for HUS. Materials & Methods, Since 1998, our laboratory has functioned as a nationwide referral center for TMAs by analyzing ADAMTS13. Of 1564 tested patients from 426 hospitals, 919 were positive for TMAs. Levels of ADAMTS13:AC and the ADAMTS13-neutralizing autoantibodies (ADAMTS13:INH) in these patients were determined by chromogenic act-ELISA and/or by classic von Willebrand factor multimer assay. Results, TMA patients consisted of two groups, those with severe (less than 3% of normal control) and those with non-severe deficiency of ADAMTS13:AC. Additionally, both groups were divided into congenital (n = 65) and acquired (n = 854) TMAs. Of the congenital TMA patients, 41 had ADAMTS13:AC deficiency due to gene mutations, while the remaining 24 had the disease of unknown etiology. The 854 patients with acquired TMAs could be largely grouped into three categories: idiopathic TTP (n = 284), idiopathic HUS (n = 106), and secondary TMAs (n = 464). The secondary TMAs were observed in heterogeneous patient groups and were associated with drugs, connective tissue diseases, malignancies, transplantation, pregnancy, E. coli O157:H7 infection, and other factors. All of the patients with acquired severe ADAMTS13:AC deficiency were positive for ADAMTS13:INH. Conclusion, Although TMAs are highly heterogeneous pathological conditions, one third of TMA patients have severe deficiency of ADAMTS13:AC. Platelet transfusions to such patients are contraindicated. Thus, rapid ADAMTS13:AC assays will be prerequisite in medical facilities where TMA patients are treated. [source]

Surgical Treatment of Coronary Artery-Pulmonary Artery Fistula with Coronary Artery Disease

JOURNAL OF CARDIAC SURGERY, Issue 6 2009
Pavle Kova, Ph.D.
Usually they are asymptomatic, but sometimes they can mimic other cardiac diseases, most commonly heart failure, myocardial ischemia, and endocarditis. Coronary arteriovenous fistulae have been reported to arise more commonly from the right coronary artery. Most of these fistulae are congenital, and only a small fraction acquired. In this report we present successful surgical treatment of coronary artery to pulmonary artery fistula combined with myocardial revascularization. [source]

Hypercholesterolemia Association with Aortic Stenosis of Various Etiologies

JOURNAL OF CARDIAC SURGERY, Issue 2 2009
Murat Bülent Rabu
The aim of this study was to investigate the role of hypercholesterolemia in development of aortic valve calcification in different etiologies. Methods: The study included 988 patients with rheumatic, congenital, or degenerative aortic stenosis, who underwent aortic valve replacement at Ko,uyolu Heart and Research Hospital between 1985 and 2005. Effects of hypercholesterolemia and high low-density lipoprotein level on calcific aortic stenosis or massive aortic valve calcification were analyzed for each etiologic group. Results: Both univariate and multivariate analyses revealed that the high serum cholesterol level (>200 mg/dL) was related to massive aortic valve calcification in all patients (p = 0.003). Hypercholesterolemia was linked to calcific aortic stenosis and massive calcification in patients with degenerative etiology (p = 0.02 and p = 0.01, respectively) and it was related to massive calcification in patients with congenital bicuspid aorta (p = 0.02). Other independent risk factors for calcific aortic stenosis and massive calcification in the degenerative group were high low-density lipoprotein level (>130 mg/dL; p = 0.03 and p = 0.05, respectively) and high serum C-reactive protein level (p = 0.04 and p = 0.05, respectively). Conclusions: Hypercholesterolemia is related to increased risk of aortic valve calcification in patients with degenerative and congenital etiology. Preventive treatment of hypercholesterolemia could play an important role to decrease or inhibit development of aortic valve calcification. [source]

Sex Modulates the Arrhythmogenic Substrate in Prepubertal Rabbit Hearts with Long QT 2

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 5 2005
Ph.D., TONG LIU M.D.
Females have a greater susceptibility to Torsade de Pointes in congenital and drug-induced long QT syndrome (LQTS) that has been attributed to the modulation of ion channel expression by sex hormones. However, little is known regarding sex differences in pre-puberty, that is, before the surge of sexual hormones. In patients with congenital LQTS types 1 and 2, male children tend to have a greater occurrence of adverse events, especially in 10,15 year olds, than their female counterpart. To evaluate whether the rabbit model of drug-acquired LQTS exhibits similar age dependences, hearts of prepubertal rabbits were perfused, mapped optically to record action potentials (APs) and treated with an IKr blocker, E4031 to elicit LQTS2. As expected, AP durations (APD) were significantly longer in female (n = 18) than male hearts (n = 10), at long cycle length. Surprisingly, E4031 (50,250 nM) induced a greater prolongation of APDs in male than in female hearts, and in both genders reversed the direction of repolarization (apex , base to base , apex), enhancing dispersions of repolarization. Furthermore, in male hearts, E4031 (0.5 ,M) elicited early afterdepolarizations (EADs) that progressed to polymorphic ventricular tachycardia (PVT) (n = 7/10) and were interrupted by isoproterenol (40 nM) and prevented by propranolol (0.5,2.5 ,M). In female hearts, E4031 (0.5 ,M) produced marked prolongations of APDs yet few EADs with no progression to PVT (n = 16/18). Thus, sex differences are opposite in prepubertal versus adult rabbits with respect to E4031-induced APD prolongation, EADs and PVT, underscoring the fact that APD prolongation alone is insufficient to predict arrhythmia susceptibility. [source]

Congenital myofibroma of the skin mimicking a piloleiomyoma

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 6 2010
Takuya Inoue
Myofibroma is an uncommon benign soft tissue disorder, which is usually congenital or present in early infancy. Myofibroma usually manifests as a single mass. When there are multiple lesions, the term myofibromatosis is used. The characteristic histopathological feature of the myofibroma is the coexistence of two distinct areas. One area mainly contains plump spindle cells with thin blunt-ended nuclei and eosinophilic cytoplasm, thus indicating myoid characteristics. The other area contains either round or polygonal cells with slightly pleomorphic, hyperchromatic nuclei or small spindle cells typically arranged around a distinct hemangiopericytoma-like vascular pattern. In the present case, the majority of the tumor was composed of the plump myoid spindle cells. This led to an initial diagnosis of a piloleiomyoma. However, the tumor cells were not immunohistochemically positive for desmin. Moreover, careful examination revealed a hemangiopericytoma-like vascular pattern characterized by the presence of high cellular areas with irregular vascular spaces. These features led to the final diagnosis of the myofibroma. It is therefore important to recognize the leiomyoma-like variants of myofibromas. Inoue T, Sada A, Mori T, Misago N, Narisawa Y. Congenital myofibroma of the skin mimicking a piloleiomyoma. [source]

G1 cell cycle regulators in congenital melanocytic nevi.

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 9 2008
Comparison with acquired nevi, melanomas
Background:, Congenital nevi are one of the known risk factors for the development of melanoma. However, the magnitude of the risk for both large and small congenital nevi is controversial. Methods:, In order to elucidate the behavior of congenital nevocytes and to define any possible similarities or differences with common nevi and melanomas, we investigated the expression of Ki-67, Rb, p16, cyclin D1, p53 and p21/Waf-1 in 41 congenital nevi, 16 melanomas and 20 acquired common nevi by immunohistochemistry. Results:, Congenital nevi highly expressed p16 (81.82 ± 9.98) but showed limited, if any, reactivity for Ki-67 (1.34% ± 0.89), Rb (0.76% ± 0.94), cyclin D1 (0.21% ± 0.29), p53 (0.54% ± 0.93) and p21 (0.0609% ± 0.32). No statistically significant difference was found between giant and nongiant congenital nevi and between congenital and common nevi for any of the markers. The expression of p16 was significantly higher in congenital nevi than in melanomas (p < 0.0001). On the contrary, the expression of Ki-67, p53, p21, Rb and cyclin D1 was significantly higher in melanomas (p < 0.0001). Conclusion:, Our data regarding the immunohistochemical expression of Rb, p16, p53, cyclin D1 and Ki-67 in congenital nevi indicate that either the alteration of their expression is not an initiating event in melanoma formation or, alternatively, congenital melanocytic nevi may not be the first step in malignant transformation. [source]

Modelling and imaging cardiac repolarization abnormalities

JOURNAL OF INTERNAL MEDICINE, Issue 1 2006
Y. RUDY
Abstract. Repolarization abnormalities, including those induced by the congenital or acquired long QT (LQT) syndrome, provide a substrate for life-threatening cardiac arrhythmias. In this article, we use computational biology to link HERG mutations mechanistically to the resulting abnormalities of the whole-cell action potential. We study how the kinetic properties of IKs (the slow delayed rectifier) that are conferred by molecular subunit interactions, facilitate its role in repolarization and ,repolarization reserve'. A new noninvasive imaging modality (electrocardiographic imaging) is shown to image cardiac repolarization on the epicardial surface, suggesting its possible role in risk stratification, diagnosis and treatment of LQT syndrome. [source]