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Congenital Anomaly (congenital + anomaly)
Kinds of Congenital Anomaly Selected AbstractsAre the cognitive functions of children with Down syndrome related to their participation?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 1 2010TANYA RIHTMAN Aim, There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method, Sixty children (33 males, 27 females) with Down syndrome (age range 6,16y; mean age 9y 3mo, SD 28.8mo), who had received standard, holistic, early intervention, were assessed. Of these, 42 (70%) had congenital anomalies, 12 had severe congenital heart defects. Participants were assessed on measures of cognitive function (Beery,Buktenica Developmental Test of Visual,Motor Integration; Stanford,Binet Intelligence Scale) and participation (Vineland Adaptive Behaviour Scales). Results, No difference was found on any measure on the basis of severity of congenital anomaly. Results showed improvements in age-related body function and correlations between specific body functions and participation. No decline in IQ was found with age, and significant correlations between IQ and all other measures were noted. Although sex differences were found in the body functions of short-term memory and motor function, no difference in measures of activity performance and participation was found. Interpretation, Our findings emphasize the need for paediatric Down syndrome intervention to encourage improved body functions while emphasizing the acquisition of functional skills that enable enhanced participation in age-appropriate activities. [source] Smooth ocular pursuit in Chiari type II malformationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2007Michael S Salman MRCP PhD Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of spinal lesion level, number of shunt revisions, nystagmus, and brain dysmorphology on SP. SP was recorded using an infrared eye tracker in 21 participants with CII (11 males, 10 females; age range 8-19y, mean 14y 3mo [SD 3y 2mo]). Thirty-eight healthy children (21 males, 17 females) constituted the comparison group. Participants followed a visual target moving sinusoidally at ± 10° amplitude, horizontally and vertically at 0.25 or 0.5Hz. SP gains, the ratio of eye to target velocities, were abnormal in the CII group with nystagmus (n= 8). The number of shunt revisions (range 0-10), brain dysmorphology, or spinal lesion level (n= 15 for lower and n= 6 for upper spinal lesion level) did not correlate with SP gains. SP is impaired in children with CII and nystagmus. Abnormal pursuit might be related to the CII dysgenesis or to effects of hydrocephalus. The lack of effect of shunt revisions and abnormal tracking in participants with nystagmus provide evidence that it is related primarily to the cerebellar and brainstem malformation. [source] Cervical spinal cord injury following cephalic presentation and delivery by Caesarean sectionDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2001C Morgan MD MRCP MRCPCH We describe a term infant with an acute spinal cord injury following emergency Caesarean section. Foetal movements were normal on the day that the mother was admitted for postterm induction of labour. Caesarean section was performed because of foetal distress and failure to progress during labour. The initial clinical picture suggested acute birth asphyxia. The presence of a high cervical spine injury became more obvious as the clinical picture evolved over the next 7 days. A discontinuity of the cervical spinal cord at C4,5 was confirmed on MRI. Spontaneous respiration failed to develop and intensive care was withdrawn on day 15. No evidence of trauma, or a vascular, neurological, or congenital anomaly of the cervical spinal cord was found at post mortem. The absence of a similar case following cephalic presentation and Caesarean section made bereavement couselling of the parents especially difficult. [source] A case of cholecystohepatic duct with atrophic common hepatic ductHPB, Issue 4 2003A Schofield Background Cholecystohepatic ducts are rare congenital variants of the biliary tree. Case outline An 81-year-old woman presented with biliary colic and elevated liver function tests. An ERCP demonstrated a common bile duct stone and stricture of the common hepatic duct. An operative cholangiogram demonstrated an atrophic common hepatic duct and retrograde filling of the gallbladder through a large cholecystoheptic duct. The patient had a cholecystectomy and reconstructive cholecystohepatic duct jejunostomy. Discussion This case demonstrates a rare congenital anomaly where the gallbladder fills retrograde during an intraoperative cholangiogram despite clipping of the cystic duct. The major path of biliary drainage was through a large cholecystoheptic duct similar to a gallbladder interposition; however, the common hepatic duct was still present but atrophic. This anomaly has not been described previously. [source] Mental health in infants with esophageal atresia,INFANT MENTAL HEALTH JOURNAL, Issue 1 2009Anne Faugli Chronic somatic illness in infancy may challenge the development of mental health and impinge the infant's capability to form close interpersonal relationships. Esophageal atresia (EA) is a congenital anomaly requiring neonatal surgery, medical aftertreatment, and extended hospitalization. The aim of the study was to assess mental health and to find prognostic factors for mental health among infants with EA. Thirty-nine infants treated consecutively during 2000 to 2003 and their mothers were included. Infant mental health was assessed by Diagnostic Classification: 0,3 (Zero to Three, 1994). Medical and environmental data were collected from medical records and semistructured interview with the mothers. Child development was assessed with the Bayley scales, second edition (N. Bayley, 1993). Maternal psychological distress, anxiety, and child temperament were assessed by self-report questionnaires: the General Health Questionnaire, 30-item version (D. Goldberg & P. Williams, 1988); the State Trait Anxiety Inventory (C.D. Spielberger, R. Gorsuch, & R. Lushene, 1970); and the Infant Behaviour Questionnaire (M.K. Rothbart, 1981). Thirty-one percent of the infants with EA showed mental health disorders by 1 year of age. Prognostic factors predicting mental health were posttraumatic symptoms reported by mother, more than one operation, mechanical ventilation beyond 1 day, and moderate/severe chronic family strain. Relational trauma, vulnerable attachment, and impaired self-development are highlighted as possible pathways for psychopathology. Children with EA are vulnerable to mental health disorders, and this study may help clinicians to identify children at risk. [source] A challenging intervention with maternal anxiety: Babies requiring surgical correction of a congenital anomaly after missed prenatal diagnosisINFANT MENTAL HEALTH JOURNAL, Issue 6 2003Lucia Aite The objective of this study is to assess the impact on maternal anxiety of a short-term intervention in a particularly stressful situation, such as a surgical anomaly diagnosed only at birth after repeated negative prenatal ultrasounds. The patients were 30 mothers of babies requiring surgical correction of a congenital anomaly who were randomly assigned to an intervention (N = 16) or control (N = 14) group. The intervention group received standard care plus short-term intervention that included weekly meetings with the psychologist and weekly team meetings. The control group received only standard care available on the Neonatal Surgery Unit. The main outcome measure was maternal anxiety levels, assessed at birth and on discharge with the Spielberger State,Trait Anxiety Inventory (STAI,S). Statistical comparisons were made, and no significant differences were found at birth in the STAI,S scores of the two groups. At discharge, the intervention group exhibited a much lower STAI,S score than the group without short-term intervention. The authors concluded that psychological counseling for parents of newborn babies has been shown to be helpful. However, the impact of such assistance was shown to be particularly beneficial for parents facing the emotional stress of their children requiring unexpected surgical corrections of congenital anomalies at birth. Therefore, the presence of a psychologist, as part of the standard care of newborns requiring surgical correction, is recommended. ©2003 Michigan Association for Infant Mental Health. [source] A case study of os cuneiforme mediale bipartum from Sigtuna, SwedenINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2004A. KjellströmArticle first published online: 16 NOV 200 Abstract An adult male from an early Medieval mass grave in Sigtuna displayed bilateral os cuneiforme mediale bipartum. This is an unusual congenital anomaly and this study is the first published example found in an archaeological skeletal assemblage in Sweden. Another adult male in the same grave shows horizontal grooves of both medial cuneiform bones. This paper discusses a possible hereditary tendency of the anomalies. Copyright © 2004 John Wiley & Sons, Ltd. [source] A medieval example of a sagittal cleft or ,butterfly' vertebraINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2003T. Anderson Abstract A mature adult medieval male with a rare congenital anomaly, a sagittal-cleft or butterfly vertebra, is presented. Clinical cases are frequently associated with axial as well as soft-tissue defects. The present case, based only on skeletal evidence, appears to be an isolated finding. The aetiology of the clefting is outlined and palaeopathological evidence for the condition is included. Copyright © 2003 John Wiley & Sons, Ltd. [source] Management of urethral hemangiomas associated with Klippel,Trenaunay,Weber syndrome by endoscopic sclerotherapyINTERNATIONAL JOURNAL OF UROLOGY, Issue 7 2007Naoki Terada Abstract: Klippel,Trenaunay,Weber syndrome (KTS) is an unusual congenital anomaly characterized by cutaneous hemangiomas, varicosities and bony hypertrophy of the extremities. Herein the case is reported of a 24-year-old man with urethral bleeding from hemangiomas associated with KTS that were successfully managed by endoscopic sclerotherapy. A 23-G puncture needle was inserted into the bleeding vein to inject a 5% solution of monoethanolamine oleate (Oldamine), which is typically used for sclerotherapy of esophageal vasix. At a 4-month follow-up, the patient only had slightly bloodstained urethral discharge, and is doing well. This is the first case reporting endoscopic sclerotherapy for a KTS-associated urethral hemangioma. [source] Uterus-like mass: MRI appearance of a very rare entityJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 1 2007Kirsten A. Menn BA Abstract We describe a 37-year-old patient who presented with right lower quadrant pain and intermenstrual bleeding. MRI demonstrated a 5 × 5 cm lobulated mass centered in the right uterine wall interpreted as suspicious for malignancy. A total hysterectomy was performed, and the gross and histologic features were consistent with the diagnosis of a uterus-like mass. Uterus-like mass is a benign entity that can be found in a variety of organs, and is characterized by endometrium surrounded by smooth muscle. It is an extremely rare lesion with only approximately 15 cases reported in the current literature. There is a lack of imaging literature on this entity, which is primarily described in the pathology literature. Its histogenesis is uncertain, but is theorized to be metaplastic change, congenital anomaly, and/or heterotopia. However, given the MRI appearance in this case, we feel that uterus-like mass could be prospectively diagnosed or listed in a differential diagnosis. J. Magn. Reson. Imaging 2007;26:162,164. © 2007 Wiley-Liss, Inc. [source] Anomalous unilateral single pulmonary vein: Two cases mimicking arteriovenous malformations and a review of the literatureJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2005JM Hanson Summary Total anomalous pulmonary venous drainage is a rare congenital anomaly. It usually involves a pulmonary to systemic venous shunt and most cases have a septal defect in order to survive. Anomalous pulmonary venous drainage with pulmonary venous shunting is an extremely rare and entirely benign entity. We present two such cases, in which there was atresia of the left superior pulmonary vein and drainage via a tortuous collateral vein to the left inferior pulmonary vein. This collateral was mistaken on plain film and CT for a pulmonary arteriovenous malformation. Awareness of this anomalous unilateral single pulmonary vein and its radiological appearances may help in avoiding unnecessary pulmonary angiography. [source] Does continuous use of metformin throughout pregnancy improve pregnancy outcomes in women with polycystic ovarian syndrome?JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2008Fauzia Haq Nawaz Abstract Aim:, Polycystic ovarian syndrome (PCOS) is one of the most common endocrinopathies in women of reproductive age. It is associated with hyperinsulinemia and insulin resistance which is further aggravated during pregnancy. This mechanism has a pivotal role in the development of various complications during pregnancy. In the past few years, metformin, an insulin sensitizer, has been extensively evaluated for induction of ovulation. Its therapeutic use during pregnancy is, however, a recent strategy and is a debatable issue. At present, evidence is inadequate to support the long-term use of insulin-sensitizing agents during pregnancy. It is a challenge for both clinicians and researchers to provide good evidence of the safety of metformin for long-term use and during pregnancy. This study aimed to evaluate pregnancy outcomes in women with PCOS who conceived while on metformin treatment, and continued the medication for a variable length of time during pregnancy. Methods:, This case-control study was conducted from January 2005 to December 2006 at the antenatal clinics of the Department of Obstetrics and Gynecology, Aga Khan University, Karachi, Pakistan. The sample included 137 infertile women with PCOS; of these, 105 conceived while taking metformin (cases), while 32 conceived spontaneously without metformin (controls). Outcomes were measured in three groups of cases which were formed according to the duration of use of metformin during pregnancy. Comparison was made between these groups and women with PCOS who conceived spontaneously. Results:, All 137 women in this study had a confirmed diagnosis of PCOS (Rotterdam criteria). These women were followed up during their course of pregnancy; data forms were completed once they had delivered. Cases were divided into three groups: group A, 40 women who stopped metformin between 4,16 weeks of pregnancy; group B, 20 women who received metformin up until 32 weeks of gestation; and group C; 45 women who continued metformin throughout pregnancy. All the groups were matched by age, height and weight. Comparison was in terms of early and late pregnancy complications, intrauterine growth restriction and live birth rates. In groups A, B and C the rate of pregnancy-induced hypertension/pre-eclampsia was 43.7%, 33% and 13.9% respectively (P < 0.020). Rates of gestational diabetes requiring insulin treatment in groups A and B were 18.7% and 33.3% compared to 2.5% in group C (P < 0.004). The rate of intrauterine growth restriction was significantly low in group C: 2.5% compared to 19.2% and 16.6% in groups A and B respectively (P < 0.046). Frequency of preterm labor and live birth rate was significantly better in group C compared to groups A and B. Overall rate of miscarriages was 7.8%. Controls were comparable to group A in terms of early and late pregnancy complications. Conclusion:, In women with PCOS, continuous use of metformin during pregnancy significantly reduced the rate of miscarriage, gestational diabetes requiring insulin treatment and fetal growth restriction. No congenital anomaly, intrauterine death or stillbirth was reported in this study. [source] Growth analysis of a patient with ectodermal dysplasia treated with endosseous implants: 6-year follow-upJOURNAL OF ORAL REHABILITATION, Issue 3 2006T. ALCAN summary, The purpose of this article is to report the clinical course and 6-year follow-up of a child with ectodermal dysplasia who was treated with implants surgery very early. This article reports placement of mandibular endosseous implants in a 4-year-old patient with hypohidrotic ectodermal dysplasia and oligodontia. This congenital anomaly does not appear to retard healing and the osseointegration remains after 6 years and 3 months of loading. Mandibular and maxillary skeletal growth and development was normal. However, because of lack of alveolar growth, in time, patient's vertical growth pattern changed to low angle. This could be corrected by changing the vertical heights of the abutment and prosthesis. As a result, in ectodermal dysplasias cases with anadontia, early implant placement and fixed prosthesis could be a good multidisciplinary treatment option for poor cooperative child. [source] Centchroman, a selective estrogen receptor modulator, as a contraceptive and for the management of hormone-related clinical disordersMEDICINAL RESEARCH REVIEWS, Issue 4 2001M.M. SinghArticle first published online: 12 JUN 200 Abstract DL -Centchroman (67/20; INN: Ormeloxifene)1,2 synthesized at the Central Drug Research Institute, Lucknow, is a nonsteroidal once-a-week oral contraceptive. It was introduced in Delhi in July, 1991,3,5 marketed in India in 1992 as Saheli and Choice-7 (Hindustan Latex Ltd., Thiruvananthapuram) and Centron (Torrent Pharmaceuticals India Ltd., Ahmedabad),4,6 and included in the National Family Welfare Programme in 1995.5 According to post-marketing surveillance,5 ,100,000 women were using this pill and ,1100,000 menstrual cycles were covered until 1996. It is a unique need-oriented contraceptive being effective when taken immediately after coitus or routinely as a weekly pill2,5,19 and has the advantage of less frequent administration. Its contraceptive action is quickly reversible. It has long terminal serum halflife of 168,hr in women and exhibits duration of anti-implantation/estrogen antagonistic action of 120,hr, despite a short (24.1,hr) serum halflife, in the rat. In lactating women, it is excreted in milk in quantities considered unlikely to cause any deleterious effect on suckling babies.20,21 In phase II and III multicentric trials as a contraceptive, children born of method-and-user failure pregnancies showed normal milestones, without any congenital anomaly. Reports of its promising action in the management of certain hormone-related clinical disorders are available. It has an excellent therapeutic index and is considered safe for chronic administration. © 2001 John Wiley & Sons, Inc. Med Res Rev, 21, No. 4, 302,347, 2001 [source] Tracheal agenesis: management of the first 10 months of lifePEDIATRIC ANESTHESIA, Issue 9 2004S. Baroncini-Cornea MD Summary Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior wall of the esophagus, before dividing into the mainstem bronchi. The anomaly was unsuspected prenatally, as the scan showed pyloric atresia and complex congenital cardiac disease. Despite the patient's difficult course, with correction of the rare-associated malformations (cardiac and gastrointestinal tract anomalies), the fact that the child is lively and neurologically normal for her age, requires that we now consider the patency of the airway and the possibility of surgical correction, in accordance with a good quality of life. [source] Severe epiglottic prolapse and the obscured larynx at intubationPEDIATRIC ANESTHESIA, Issue 6 2002F.M. Vaz FRCS BSC (HONS) Summary Laryngomalacia is the most common congenital anomaly of the larynx and usually involves prolapse of the arytenoids, so-called `posterior laryngomalacia'. Most cases resolve with growth of the child and maturation of the larynx, although, rarely, significant airway obstruction can be present. Severe laryngomalacia preventing intubation is rarely encountered. We report a case of a difficult emergency intubation secondary to `anterior laryngomalacia' in a 4-month-old boy in whom the epiglottis prolapsed posteriorly and became trapped in the laryngeal introitus. The child was referred with a diagnosis of laryngeal atresia on the basis of the intubating laryngoscopic view of no apparent epiglottis or laryngeal inlet. The child was transferred with a tube in the oesophagus that kept the child oxygenated. At the time, oxygenation was felt to be due to a coexisting tracheo-oesophageal fistula, although this was eventually found not to be the case. [source] Cleft sternum: Case report and literature reviewPEDIATRIC PULMONOLOGY, Issue 4 2004FRCS Eng (Paeds), R.M. Abel BSc Abstract The isolated sternal cleft is a rare congenital anomaly that presents from birth to adulthood. We describe the late presentation and management in a child with this condition. The modern investigative and operative options are reviewed. Pediatr Pulmonol. 2004; 37:375,377. © 2004 Wiely-Liss, Inc. [source] Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomalyPRENATAL DIAGNOSIS, Issue 3 2005Claudio Celentano Abstract Objective Isolated elevations in midtrimester maternal serum human chorionic gonadotrophin concentrations (MShCG) have been reported to be associated with a substantially increased likelihood of fetal congenital malformations. The reported malformations included a wide range of organ systems, originating at different embryologic developmental stages. The purpose of our study was to determine the significance of an isolated elevated MShCG (>2.5 MoM) in midtrimester for the detection of fetal structural anomalies in a large population. Methods Among 10 144 women who underwent a biochemical triple screen at 15 to 18 weeks' gestation, 463 patients, who had an elevated MShCG, but normal ,-fetoprotein (AFP) and unconjugated estriol (uE3) levels, were identified. Patients with an integrated calculated Down syndrome risk above 1:250 were excluded. Only nonsmokers, at ages <35 years, without a history of prior fetal anomalies were included. The control group consisted of 463 patients with normal serum analyte concentrations and Down syndrome risks below 1:250, who were matched for maternal age and date of biochemical screen. All patients underwent a detailed genetic sonogram in which an anatomic survey and multiple ,soft markers' for aneuploidy were looked for. Newborns were examined by a senior pediatrician trained in dysmorphology. Results MShCG levels were 3.18 ± 0.72 versus 0.99 ± 0.43 MoM (p < 0.0001) in study and control groups respectively. Sonography revealed 8 versus 6 cases of major congenital anomalies among the 463 patients of their respective groups, and 39 versus 36 sonographic ,soft markers' for aneuploidy. Fetal karyotyping and neonatal examination for dysmorphology revealed 6 chromosomal anomalies (4 Down syndrome; 2 Turner syndrome) among the 8 major malformations in the study group, but none in the controls (p < 0.0001). Three of the 39 fetuses with ,soft markers' and elevated MShCG were found to have trisomy 21. Conclusion Isolated elevation of MShCG does not confer an increased risk of fetal congenital anomalies other than chromosomal abnormalities. However, elevated MShCG levels in combination with sonographic ,soft markers' for aneuploidy were associated with a high incidence of chromosomal anomalies, despite a normal biochemical triple screen risk estimate. Copyright © 2005 John Wiley & Sons, Ltd. [source] Antenatal detection of a single umbilical artery: does it matter?PRENATAL DIAGNOSIS, Issue 2 2003A. S. Gornall Abstract The presence of a single umbilical artery is recognised as a soft marker for congenital anomalies, aneuploidy, earlier delivery and low birthweight. Most of the available data are derived from case series or highly selected populations and are therefore likely to be unrepresentative. In this retrospective case-comparison study, we firstly aimed to determine the incidence of a single umbilical artery in an unselected population and secondly to examine the clinical significance of this soft marker. Over a 40-month period, 107 cases were identified from a cohort of 35 066 births giving an incidence of 3.1 per 1000 total births and late pregnancy losses. The antenatal detection rate was only 30%. Compared to fetuses with normal cord vasculature, fetuses with a single umbilical artery were more likely to be delivered at an earlier gestation and to weigh less, were 1.7 times more likely to be delivered by a Caesarean section and 19% of the cases had a congenital anomaly. The perinatal mortality was 49.0 per 1000 total births, which was 6 times higher than the background hospital rate. The presence of a single umbilical artery is associated with a poorer perinatal outcome compared to that in fetuses with three vessels in the cord. Unfortunately, the antenatal detection rate is poor. Recognising the importance of this soft marker in counselling and management of pregnancies should provide the stimulus to improve detection rates. Copyright © 2003 John Wiley & Sons, Ltd. [source] Orthotopic, but Reversed Implantation of the Liver Allograft in Situs Inversus Totalis,A Simple New Approach to a Difficult ProblemAMERICAN JOURNAL OF TRANSPLANTATION, Issue 7 2009S. C. Rayhill Situs inversus totalis is a rare congenital anomaly in which the heart and abdominal organs are oriented in a mirror image of normal. It provides a unique challenge as there is no established technique for liver transplantation in these patients. Employing two major alterations from our standard technique, a liver was transplanted in the left subphrenic space of a patient with situs inversus totalis. First, the liver was flipped 180° from right to left (facing backward). Second, a reversed cavaplasty (anterior, not posterior, donor suprahepatic caval incision) was performed. Otherwise, it was standard, with end-to-end anastomoses of the portal vein, hepatic artery and bile duct. Three years after the entirely uneventful transplant, the recipient continues to enjoy the benefits of a normally functioning liver. The described technique prevented torsion, kinking and tension on the anastomosed structures by allowing the liver to sit naturally in an anatomical position in the left hepatic fossa. As it required no special measurements or maneuvers, the technique was easy to execute and required no donor liver size restrictions. This novel technique, with a reversed cavaplasty and a 180° right-to-left flip of the liver into a left-sided hepatic fossa, may be ideal for situs inversus totalis. [source] Ankyloglossia in Dogs: A Morphological and Immunohistochemical StudyANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 2 2009S. Karahan Summary Ankyloglossia is a congenital anomaly of the tongue that is usually characterized by a short and thick lingual frenulum. The genetic mutations such as in TBox genes and other foetal mechanism have still been under investigation as possible causes of ankyloglossia. This study describes morphology of anklyoglossia phenotype found in members of two closely bred Kangal dog families. Morphology of ankyloglossia and immunohistochemical localization of ,B-crystallin, an anti-apoptotic protein, in the frenulum tissue collected during frenectomy was described. Grossly, the lingual frenulum was observed as it extended up to the tip or near the tip of the tongue. The tip of the tongue was often notched and appeared in ,W' shape. No other craniofacial anomalies were associated with ankyloglossia. Histologically, the frenulum tissue was covered by stratified squamous epithelia of variable thickness. Skeletal muscle fibres were often scattered in the vicinity of collagen fibres of the lamina propria. ,B-crystallin was immunolocalized exclusively in skeletal muscle fibres. In conclusion, ankyloglossia in the dog generally occurs as a sole anomaly. The presence of ,B-crystallin immunoreactivity exclusively in skeletal muscle fibres suggests that there may be a connection between occurrences of ankyloglossia in the dog and a delay or interference with apoptosis of the skeletal fibres in the frenulum tissue. [source] Polyorchidism: a three-case report and review of the literatureANDROLOGIA, Issue 1 2010M. Savas Summary The presence of more than two testes confirmed by histology is called polyorchidism. Polyorchidism is an extremely rare congenital anomaly with a few more than 100 cases reported in the literature. The majority of reported cases are asymptomatic patients, others present with cryptorchidism, hydrocele, varicocele, epididymitis, infertility, testicular malignancy and testicular torsion. Over a 2-year period, we encountered three patients who were found to have polyorchidism; two men presented with cryptorchidism and one with chronic scrotal pain. Physical examination of the first and the third patient revealed normal testes in the scrotal sac, the other scrotal sac was empty and small solid mass (atrophic left testes) was palpated in the inguinal canal. Ultrasonographic examination of the scrotum and inguinal region confirmed the findings of the physical examination. Ultrasonographic examination of the second patient revealed supernumerary testes within the scrotum. Orchiectomy was made on the first and third patients' supernumerary testes and ipsilateral inguinal high ligation was applied for herniorrhaphy. A conservative approach was preferred for the second patient, maybe preserving a potentially functional supernumerary testis to improve the capacity for spermatogenesis. The risk of malignancy justifies the removal of an atrophic and ectopic testis in polyorchidism. However, it would appear safe to preserve a viable intrascrotal supernumerary testis found incidentally at surgery, provided that the patient is followed-up in the long term. [source] Do maternal- or pregnancy-associated disease states affect blood pressure in the early neonatal period?AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 4 2009Alison L. KENT Background: Placental vascular changes associated with maternal disease states may affect fetal vascular development. There is evidence suggesting that being born prematurely is associated with a higher blood pressure (BP) in later life. Aim: To determine whether maternal disease state affects BP in the early neonatal period. Methods: Cohort study of neonates admitted to neonatal intensive care unit with exposure to maternal hypertension and diabetes. Inclusion criteria were neonates greater than 27 weeks gestation not ventilated or requiring inotropes for more than 24 h, materna l hypertension (pregnancy induced or essential) or diabetes of any kind requiring treatment, and spontaneous delivery. Exclusion criteria included chromosomal or congenital anomaly and illicit maternal drug use. Oscillometric BP measurements taken until discharge on days 1, 2, 3, 4, 7, 14, 21 and 28. Placental histopathology was performed. Results: One hundred and ninety infants enrolled, 104 in the control and 86 in the study group. Sixty-five infants were born between 28,31 weeks and 125 infants between 32,41 weeks gestation. Those born between 28,31 weeks with a history of diabetes had a statistically higher systolic, mean and diastolic BP throughout the first 28 days of life (P = 0.001; P = 0.007; P = 0.02). Those born between 32,41 weeks gestation with placental pathology associated with altered uteroplacental perfusion had a higher systolic BP (P = 0.005). Conclusions: Maternal- or pregnancy-associated disease states appear to influence BP in the early neonatal period. Diabetes and altered placental perfusion were associated with higher BP readings. Clinical significance of these statistically elevated BPs in the early neonatal period is unknown. [source] Linking animal models to human congenital diaphragmatic herniaBIRTH DEFECTS RESEARCH, Issue 8 2007Niels Beurskens Abstract BACKGROUND:Congenital diaphragmatic hernia (CDH) is a major life-threatening malformation, occurring in approximately 1 in 3,000 live births. Over the years, different animal models have been used to gain insight into the etiology of this complex congenital anomaly and to develop treatment strategies. However, to date the pathogenic mechanism is still not understood, and treatment remains difficult because of the associated pulmonary hypoplasia and pulmonary hypertension. METHODS: In this review, data available from several animal models will be discussed. The retinoic acid signaling pathway (RA pathway, retinoid pathway) will be addressed as a developmental pathway that is potentially disrupted in the pathogenesis of CDH. Furthermore, genetic factors involved in diaphragm and lung development will be discussed. CONCLUSIONS: With this review article, we aim to provide a concise overview of the current most important experimental genetic data available in the field of CDH. Birth Defects Research (Part A), 2007. © 2007 Wiley-Liss, Inc. [source] Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneityBIRTH DEFECTS RESEARCH, Issue 1 2004Monica Rittler Abstract BACKGROUND Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly underlying causes of birth defects. METHODS Between 1982 and 1999, 1,444,646 newborn infants were examined by the Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) network of South American maternity hospitals. Male relative risks were established for 39,425 infants with 50 selected single anomalies. Associations between male sex and risk factors were identified in nonmalformed infants. In malformed infants, sex-related risk differences were established, and the SR of these infants, with and without associated risk factors, were compared. RESULTS Infants with neural tube defects (NTDs) and intrauterine growth restriction had a lower SR than those with normal growth, while spina bifida without hydrocephaly (SB[sHy]) was the only NTD subtype without a significant female predominance. Multigravidity lowered the SR of SB(sHy) and HPP (HPP) cases. Increased paternal age inverted the SR of cleft lip (CL) with or without cleft palate (CL[P]) cases from male to female. CONCLUSIONS The results indicate etiological differences between high and low SB, a stronger relationship between multigravidity and female sex of the offspring than between multigravidity and a specific congenital anomaly, and a possible involvement of dominant mutations for CL(P), as suggested by the association with increased paternal age. Birth Defects Research (Part A) 67:000,000, 2003. © 2003 Wiley-Liss, Inc. [source] Short communication: The relationship between pre-pregnancy care and early pregnancy loss, major congenital anomaly or perinatal death in type I diabetes mellitusBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 1 2007DWM Pearson The relationships between markers of pregnancy planning and pre-pregnancy care and adverse outcomes (early pregnancy loss, major congenital anomaly and perinatal death) were examined in 423 singleton pregnancies in women with pre-gestational type I diabetes mellitus. Pregnancy planning and markers of pre-pregnancy care were associated with reduced risks of adverse pregnancy outcomes. ,Documentation of achievement of an optimal haemoglobin A1c prior to discontinuation of contraception' was the marker associated with the lowest rate of adverse outcome (OR 0.2; 95% CI 0.06,0.67) and might serve as an appropriate definition of pre-pregnancy care for research and audit purposes. [source] Outcomes of pregnancies in women with pre-existing type 1 or type 2 diabetes, in an ethnically mixed populationBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 11 2005Evelyn C.J. Verheijen Objective To compare the outcomes of pregnancies in women with pre-existing, type 1 and type 2, diabetes and to examine the influence of ethnicity on these outcomes. Design Prospective cohort study. Setting Large district hospital in Yorkshire with an ethnically mixed population. Sample Case series of all 202 pregnancies in women with pre-existing diabetes, ending in miscarriage, termination of pregnancy or delivery between January 1994 and December 2002. Methods Univariate and multivariate logistic regression analysis comparing outcomes in type of diabetes and in ethnic group. Main outcome measures Fetal loss, perinatal and infant mortality and congenital anomaly. Results All 14 stillbirths and infant deaths and 13 of the 15 congenital malformations were to Asian women. Analysis within this ethnic group showed a very high rate of adverse birth outcome for type 1 diabetic women and for type 2 diabetic women on insulin before the pregnancy. Total pregnancy loss among type 1 diabetic women was 156 per 1000 and among type 2 diabetic women on insulin was 167 per 1000. Congenital abnormality rates were 156 per 1000 for type 1 diabetic women and 261 per 1000 for type 2 diabetic women on insulin. Asian type 2 diabetic women not on insulin prior to pregnancy had significantly better outcomes: Total pregnancy loss was 123 per 1000 and congenital abnormality rate was 32 per 1000. After adjustment for confounders, including type of diabetes, Asian women had significantly worse outcomes (combined perinatal loss and malformation) than Caucasian women [odds ratio (OR) 4.96, 95% confidence interval (CI) 1.16,21.1]. Conclusion Ethnicity has a significant impact on the outcome of diabetic pregnancies, with worse outcomes for babies born to Asian mothers compared with Caucasian mothers. The use of insulin pre-pregnancy rather than type of diabetes appears to predict adverse outcome. [source] Tilted disc syndrome may mimic false visual field deteriorationACTA OPHTHALMOLOGICA, Issue 6 2008Marja-Liisa Vuori Abstract. Purpose:, Tilted disc syndrome is a congenital anomaly of the eye characterized by mostly upper temporal visual field defects. The aim of the present study was to evaluate the effect of gradual myopic correction in the improvement of visual field defects associated with tilted disc syndrome. Methods:, The visual field was examined in 38 eyes of 24 patients using standard Goldmann perimetry. The isoptres IV-4e, I-4e, I-3e and I-2e were plotted. The defective isoptres were tested again with gradually increasing myopic correction until no further change was noted. Results:, The most common type of defect was a relative upper temporal defect (19 eyes). Temporal relative defects were found in five eyes, upper altitudinal field defects in six eyes, an enlarged blind spot in four eyes, and an inferior field defect in one eye. The visual field defect partly or totally disappeared with increased myopic correction in 18 (50%) eyes. The mean improvement was 17.0 ± 6.2 degrees and the mean additional myopic correction was 3.1 ± 1.5 D. Conclusions:, Even a small change in near correction during visual field examination may imply worsened or improved visual field defects in tilted disc syndrome. To prevent a false interpretation of field deterioration in a patient with tilted disc syndrome and glaucoma, visual field assessment should include examination with the myopic correction that provides the maximal improvement of the defective visual field. [source] Clinico-pathological spectrum of gallbladder disease in childrenACTA PAEDIATRICA, Issue 10 2010RPS Punia Abstract Aim:, Because of wide variation in clinico-pathological spectrum of gallbladder disease in children the world over, the data of gallbladder disease from this stone belt of India were analysed. Methods:, Children who underwent cholecystectomy over a period of 8 years January 2002,December 2009 were reviewed. Results:, Out of 7076 cholecystectomies, 56 (0.79%) were in children. Thirty-nine (69.6%) children were 11,16 years of age. Thirty-seven (66.07%) children were girls and nineteen (33.9%) were boys. In 12 (21.4%) children, cholecystitis was acalculus. Five (8.9%) children had associated haemolytic disease and 4 (7.1%) children had congenital anomaly in the form of choledochal cyst. Ultrasound findings were available in 44 cases and showed cholelithiasis in 36 cases. Twenty-two (39.3%) children had mixed cholelithiasis, 8 (14.2%) pigment cholelithiasis, 10 (17.8%) combined cholelithiasis and 4 (7.1%) patients had small concretions. Microscopically, changes of chronic cholecystitis were seen in 98.2% while 1.7% showed acute on chronic cholecystitis. There was single unusual case of cysticercus in the wall of the gallbladder. Conclusions:, The frequency of gallstone disease is 0.79%. Nonhaemolytic type of cholelithiasis is more common than haemolytic type in this region. Presence of cysticercus in the gallbladder wall in one case was an unexpected finding. [source] Communicating oesophageal duplication cyst with heterotopic pancreatic tissue , an unusual cause of recurrent pneumonia in an infantACTA PAEDIATRICA, Issue 9 2010Preena Uppal Abstract Communicating oesophageal duplication cyst with heterotopic pancreatic tissue is rare congenital anomaly and unusual cause of recurrent pneumonia in children. We report a 10-month-old boy who presented with history, examination and investigations suggestive of aspiration pneumonia since birth. The imaging studies revealed a thin walled cavity communicating with the oesophageal lumen that was excised by surgery. Histopathology showed squamous epithelial lining of cyst with heterotopic pancreatic tissue. Conclusion:, Communicating oesophageal cyst causing persistent signs and symptoms can be an unusual cause of recurrent pneumonia in an infant that can be diagnosed by further imaging studies. [source] | |||||||||||||||||||||||||