Combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of cervix

PubMed Central

Zhang, Xuyin; Han, Tiantian; Ding, Jingxin; Hua, Keqin

2015-01-01

Objective: The aim of this study was to introduce a new technique which is combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of cervix and to evaluate the feasibility and the safety of it. Methods: This is a prospective observational study of 10 patients with congenital atresia of cervix who underwent combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft for cervicovaginal reconstruction from February 2013 to August 2014 in our hospital. All of the surgical procedures were carried out by the same operation team. Patient data were collected including operating time, estimated blood loss, hospital stay post-surgery, complications, total cost, and median vaginal length at 3 month, resumption of menstruation, vaginal stenosis and stricture of the cervix postoperatively. Results: The operative procedure lasted 237±46 (175-380) min. The estimated blood loss was 160±76 (50-300) ml. The hospital stay post-surgery was 12±2 (9-18) days. None of the patients had complications or required a blood transfusion. The mean total cost was $3352±1025. The average vaginal length at 3 month was 8.3±1.1 (8-10) cm. All patients had resumption of menstruation. The patients were followed for a mean of 5±2 (1-10) months. Cervical or vaginal stenosis did not occur in any of the patients. Conclusions: Our experiences of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in10 patients with congenital atresia of cervix were positive, with successful results and without complications, and cervical or vaginal stenosis. PMID:26309703

ACR appropriateness criteria(®) on abnormal vaginal bleeding.

PubMed

Bennett, Genevieve L; Andreotti, Rochelle F; Lee, Susanna I; Dejesus Allison, Sandra O; Brown, Douglas L; Dubinsky, Theodore; Glanc, Phyllis; Mitchell, Donald G; Podrasky, Ann E; Shipp, Thomas D; Siegel, Cary Lynn; Wong-You-Cheong, Jade J; Zelop, Carolyn M

2011-07-01

In evaluating a woman with abnormal vaginal bleeding, imaging cannot replace definitive histologic diagnosis but often plays an important role in screening, characterization of structural abnormalities, and directing appropriate patient care. Transvaginal ultrasound (TVUS) is generally the initial imaging modality of choice, with endometrial thickness a well-established predictor of endometrial disease in postmenopausal women. Endometrial thickness measurements of ≤5 mm and ≤4 mm have been advocated as appropriate upper threshold values to reasonably exclude endometrial carcinoma in postmenopausal women with vaginal bleeding; however, the best upper threshold endometrial thickness in the asymptomatic postmenopausal patient remains a subject of debate. Endometrial thickness in a premenopausal patient is a less reliable indicator of endometrial pathology since this may vary widely depending on the phase of menstrual cycle, and an upper threshold value for normal has not been well-established. Transabdominal ultrasound is generally an adjunct to TVUS and is most helpful when TVUS is not feasible or there is poor visualization of the endometrium. Hysterosonography may also allow for better delineation of both the endometrium and focal abnormalities in the endometrial cavity, leading to hysteroscopically directed biopsy or resection. Color and pulsed Doppler may provide additional characterization of a focal endometrial abnormality by demonstrating vascularity. MRI may also serve as an important problem-solving tool if the endometrium cannot be visualized on TVUS and hysterosonography is not possible, as well as for pretreatment planning of patients with suspected endometrial carcinoma. CT is generally not warranted for the evaluation of patients with abnormal bleeding, and an abnormal endometrium incidentally detected on CT should be further evaluated with TVUS. Copyright © 2011 American College of Radiology. Published by Elsevier Inc. All rights reserved.

[Abnormal vaginal secretion: sensitivity, specificity and concordance between clinical and cytological diagnosis].

PubMed

de Camargo, Kélvia Cristina; Alves, Rosane Ribeiro Figueiredo; Baylão, Luciano Augusto; Ribeiro, Andrea Alves; Araujo, Nadja Lindany Alves de Souza; Tavares, Suelene Brito do Nascimento; dos Santos, Sílvia Helena Rabelo

2015-05-01

To estimate the prevalence of bacterial vaginosis (BV), candidiasis and trichomoniasis and compare the findings of physical examination of the vaginal secretion with the microbiological diagnosis obtained by cytology study of a vaginal smear using the Papanicolaou method. A cross-sectional study of 302 women aged 20 to 87 years, interviewed and submitted to a gynecology test for the evaluation of vaginal secretion and collection of a cytology smear, from June 2012 to May 2013. Sensitivity analyses were carried out and specificity, positive predictive value (PPV) and negative predictive value (NPV) with their respective 95%CI were determined to assess the accuracy of the characteristics of vaginal secretion in relation to the microbiological diagnosis of the cytology smear . The kappa index (k) was used to assess the degree of agreement between the clinical features of vaginal secretion and the microbiological findings obtained by cytology. RESULTS The prevalence of BV, candidiasis and trichomoniasis was 25.5, 9.3 and 2.0%, respectively. The sensitivity, specificity, PPV and NPV of the clinical characteristics of vaginal secretion for the cytological diagnosis of BV were 74, 78.6, 54.3 and 89.9%, respectively. The sensitivity, specificity, PPV and the NPV of the clinical characteristics of vaginal secretion for the cytological diagnosis of candidiasis were 46.4, 86.2, 25.5 and 94%, respectively. The correlation between the clinical evaluation of vaginal secretion and the microbiological diagnosis of BV, candidiasis and trichomoniasis, assessed by the kappa index, was 0.47, 0.23 and 0.28, respectively. CONCLUSION The most common cause of abnormal vaginal secretion was BV. The clinical evaluation of vaginal secretion presented amoderate to weak agreement with the microbiological diagnosis, indicating the need for complementary investigation of the clinical findings of abnormal vaginal secretion.

Vaginal disorders.

PubMed

Soderberg, S F

1986-05-01

Chronic vaginitis is the most common vaginal disorder. Dogs with vaginitis show no signs of systemic illness but often lick at the vulva and have purulent or hemorrhagic vaginal discharges. Vaginitis is most commonly secondary to a noninfectious inciting factor such as congenital vaginal anomalies, clitoral hypertrophy, foreign bodies, trauma to the vaginal mucosa, or vaginal tumors. Inspection of the caudal vagina and vestibule both visually and digitally will often reveal the source of vaginal irritation. Vaginal cytology is used to establish the stage of the estrous cycle as well as distinguish uterine from vaginal sources of discharge. Vaginal cultures are used to establish the predominant offending organism associated with vaginal discharges and may be used as a guide for selection of a therapeutic agent. Vaginitis is best managed by removing the inciting cause and treating the area locally with antiseptic douches. Congenital malformations at the vestibulovaginal or vestibulovulvar junction may prevent normal intromission. Affected bitches may be reluctant to breed naturally because of pain. Such defects are detected best by digital examination. Congenital vaginal defects may be corrected by digital or surgical means. Prolapse of tissue through the lips of the vulva may be caused by clitoral hypertrophy, vaginal hyperplasia, or vaginal tumors. Enlargement of clitoral tissue is the result of endogenous or exogenous sources of androgens. Treatment of this condition includes removal of the androgen source and/or surgical removal of clitoral tissue. Vaginal hyperplasia is detected during proestrus or estrus of young bitches. Hyperplastic tissue will regress during diestrus. Tissue that is excessively traumatized and/or prolapse of the entire vaginal circumference may be removed surgically. Ovariohysterectomy may be used to prevent recurrence. Vaginal tumors are detected most often in older intact bitches. Such tumors are generally of smooth muscle or fibrous

Abnormal vaginal microbiota may be associated with poor reproductive outcomes: a prospective study in IVF patients.

PubMed

Haahr, T; Jensen, J S; Thomsen, L; Duus, L; Rygaard, K; Humaidan, P

2016-04-01

What is the diagnostic performance of qPCR assays compared with Nugent scoring for abnormal vaginal microbiota and for predicting the success rate of IVF treatment? The vaginal microbiota of IVF patients can be characterized with qPCR tests which may be promising tools for diagnosing abnormal vaginal microbiota and for prediction of clinical pregnancy in IVF treatment. Bacterial vaginosis (BV) is a common genital disorder with a prevalence of approximately 19% in the infertile population. BV is often sub-clinical with a change of the vaginal microbiota from being Lactobacillus spp. dominated to a more heterogeneous environment with anaerobic bacteria, such as Gardnerella vaginalis and Atopobium vaginae. Few studies have been conducted in infertile women, and some have suggested a negative impact on fecundity in the presence of BV. A cohort of 130 infertile patients, 90% Caucasians, attending two Danish fertility clinics for in vitro fertilization (IVF) treatment from April 2014-December 2014 were prospectively enrolled in the trial. Vaginal swabs from IVF patients were obtained from the posterior fornix. Gram stained slides were assessed according to Nugent's criteria. PCR primers were specific for four common Lactobacillus spp., G. vaginalis and A. vaginae. Threshold levels were established using ROC curve analysis. The prevalence of BV defined by Nugent score was 21% (27/130), whereas the prevalence of an abnormal vaginal microbiota was 28% (36/130) defined by qPCR with high concentrations of Gardnerella vaginalis and/or Atopobium vaginae. The qPCR diagnostic approach had a sensitivity and specificity of respectively 93% and 93% for Nugent-defined BV. Furthermore, qPCR enabled the stratification of Nugent intermediate flora. Eighty-four patients completed IVF treatment. The overall clinical pregnancy rate was 35% (29/84). Interestingly, only 9% (2/22) with qPCR defined abnormal vaginal microbiota obtained a clinical pregnancy (P = 0.004). Although a total of 130

[Congenital abnormalities of the aorta in children and adolescents].

PubMed

Eichhorn, J G; Ley, S

2007-11-01

Aortic abnormalities are common cardiovascular malformations accounting for 15-20% of all congenital heart disease. Ultrafast CT and MR imaging are noninvasive, accurate and robust techniques that can be used in the diagnosis of aortic malformations. While their sensitivity in detecting vascular abnormalities seems to be as good as that of conventional catheter angiocardiography, at over 90%, they are superior in the diagnosis of potentially life-threatening complications, such as tracheal, bronchial, or esophageal compression. It has been shown that more than 80% of small children with aortic abnormalities benefit directly from the use of noninvasive imaging: either cardiac catheterization is no longer necessary or radiation doses and periods of general anesthesia for interventional catheterization procedures can be much reduced. The most important congenital abnormalities of the aorta in children and adolescents are presented with reference to examples, and the value of CT and MR angiography is documented.

Congenital abnormalities of the osseous spine: a radiological approach.

PubMed

Vanhoenacker, F M; De Schepper, A M; Parizel, P M

2005-01-01

The spine may act as a useful window to the diagnosis of many congenital malformations syndromes and skeletal dysplasias. However, radiological identification of these syndromes remains a difficult task, because there are so many syndromes and dysplasias to remember. Moreover, many spinal abnormalities are non-specific and there is much overlap between different genetic and congenital disorders. Consequently, many radiologists cringe when these topics are discussed. The purpose of this short review is to provide the general radiologist a workable primer for systematic analysis of spinal abnormalities encountered in genetic disorders, which may be helpful in (differential) diagnosis.

Prevalence and spectrum of in utero structural brain abnormalities in fetuses with complex congenital heart disease.

PubMed

Brossard-Racine, M; du Plessis, A J; Vezina, G; Robertson, R; Bulas, D; Evangelou, I E; Donofrio, M; Freeman, D; Limperopoulos, C

2014-08-01

Brain injury is a major complication in neonates with complex congenital heart disease. Preliminary evidence suggests that fetuses with congenital heart disease are at greater risk for brain abnormalities. However, the nature and frequency of these brain abnormalities detected by conventional fetal MR imaging has not been examined prospectively. Our primary objective was to determine the prevalence and spectrum of brain abnormalities detected on conventional clinical MR imaging in fetuses with complex congenital heart disease and, second, to compare the congenital heart disease cohort with a control group of fetuses from healthy pregnancies. We prospectively recruited pregnant women with a confirmed fetal congenital heart disease diagnosis and healthy volunteers with normal fetal echocardiogram findings who underwent a fetal MR imaging between 18 and 39 weeks gestational age. A total of 338 fetuses (194 controls; 144 with congenital heart disease) were studied at a mean gestational age of 30.61 ± 4.67 weeks. Brain abnormalities were present in 23% of the congenital heart disease group compared with 1.5% in the control group (P < .001). The most common abnormalities in the congenital heart disease group were mild unilateral ventriculomegaly in 12/33 (36.4%) and increased extra-axial spaces in 10/33 (30.3%). Subgroup analyses comparing the type and frequency of brain abnormalities based on cardiac physiology did not reveal significant associations, suggesting that the brain abnormalities were not limited to those with the most severe congenital heart disease. This is the first large prospective study reporting conventional MR imaging findings in fetuses with congenital heart disease. Our results suggest that brain abnormalities are prevalent but relatively mild antenatally in fetuses with congenital heart disease. The long-term predictive value of these findings awaits further study. © 2014 by American Journal of Neuroradiology.

Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

PubMed

Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

2013-05-01

Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were

DNA methylation abnormalities in congenital heart disease.

PubMed

Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

2015-01-01

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

Abnormal brain development in newborns with congenital heart disease.

PubMed

Miller, Steven P; McQuillen, Patrick S; Hamrick, Shannon; Xu, Duan; Glidden, David V; Charlton, Natalie; Karl, Tom; Azakie, Anthony; Ferriero, Donna M; Barkovich, A James; Vigneron, Daniel B

2007-11-08

Congenital heart disease in newborns is associated with global impairment in development. We characterized brain metabolism and microstructure, as measures of brain maturation, in newborns with congenital heart disease before they underwent heart surgery. We studied 41 term newborns with congenital heart disease--29 who had transposition of the great arteries and 12 who had single-ventricle physiology--with the use of magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI) before cardiac surgery. We calculated the ratio of N-acetylaspartate to choline (which increases with brain maturation), the ratio of lactate to choline (which decreases with maturation), average diffusivity (which decreases with maturation), and fractional anisotropy of white-matter tracts (which increases with maturation). We compared these findings with those in 16 control newborns of a similar gestational age. As compared with control newborns, those with congenital heart disease had a decrease of 10% in the ratio of N-acetylaspartate to choline (P=0.003), an increase of 28% in the ratio of lactate to choline (P=0.08), an increase of 4% in average diffusivity (P<0.001), and a decrease of 12% in white-matter fractional anisotropy (P<0.001). Preoperative brain injury, as seen on MRI, was not significantly associated with findings on MRS or DTI. White-matter injury was observed in 13 newborns with congenital heart disease (32%) and in no control newborns. Term newborns with congenital heart disease have widespread brain abnormalities before they undergo cardiac surgery. The imaging findings in such newborns are similar to those in premature newborns and may reflect abnormal brain development in utero. Copyright 2007 Massachusetts Medical Society.

Vertebral formula and congenital abnormalities of the vertebral column in rabbits.

PubMed

Proks, P; Stehlik, L; Nyvltova, I; Necas, A; Vignoli, M; Jekl, V

2018-06-01

The aim of this retrospective study of 330 rabbits (164 males, 166 females) was to determine different vertebral formulas and prevalence of congenital vertebral anomalies in rabbits from radiographs of the cervical (C), thoracic (Th), lumbar (L) and sacral (S) segments of the vertebral column. The number of vertebrae in each segment of vertebral column, position of anticlinal vertebra and localisation and type of congenital abnormalities were recorded. In 280/330 rabbits (84.8%) with normal vertebral morphology, seven vertebral formulas were identified: C7/Th12/L7/S4 (252/330, 76.4%), C7/Th12/L6/S4 (11/330, 3.3%), C7/Th13/L7/S4 (8/330, 2.4%), C7/Th12/L7/S5 (4/330, 1.2%), C7/Th12/L8/S4 (3/330, 0.9%), C7/Th12/L7/S6 (1/330, 0.3%) and C7/Th11/L7/S4 (1/330, 0.3%). The anticlinal vertebra was identified as Th10 in 56.4% of rabbits and Th11 in 42.4% of rabbits. Congenital spinal abnormalities were identified in 50/330 (15.2%) rabbits, predominantly as a single pathology (n=44). Transitional vertebrae represented the most common abnormalities (n=41 rabbits) in the thoracolumbar (n=35) and lumbosacral segments (n=6). Five variants of thoracolumbar transitional vertebrae were identified. Cervical butterfly vertebrae were detected in three rabbits. One rabbit exhibited three congenital vertebral anomalies: cervical block vertebra, thoracic hemivertebra and thoracolumbar transitional vertebra. Five rabbits exhibited congenital vertebral abnormalities with concurrent malalignment, specifically cervical kyphosis/short vertebra (n=1), thoracic lordoscoliosis/thoracolumbar transitional vertebrae (n=1), thoracic kyphoscoliosis/wedge vertebrae (n=2) and thoracolumbar lordoscoliosis/thoracolumbar transitional vertebrae/lumbosacral transitional vertebrae (n=1). These findings suggest that vertebral columns in rabbits display a wide range of morphologies, with occasional congenital malformations. Copyright © 2018 Elsevier Ltd. All rights reserved.

Occipitoparietal epilepsy, hippocampal atrophy, and congenital developmental abnormalities.

PubMed

Lawn, N; Londono, A; Sawrie, S; Morawetz, R; Martin, R; Gilliam, F; Faught, E; Kuzniecky, R

2000-12-01

Diagnostic uncertainty may arise in patients with occipitoparietal epilepsy when there is neuroimaging evidence of a posterior quadrant lesion and coexistent hippocampal abnormalities ("dual pathology"). It is not known whether hippocampal atrophy (HA) in these patients results from seizure propagation to temporolimbic structures or whether it is part of the pathological process underlying the occipitoparietal epilepsy. Clarification of this issue may have a significant bearing on the management of these patients. We studied 20 patients with occipitoparietal epilepsy and neuroimaging or pathologic evidence of a congenital developmental abnormality. Normalized hippocampal volumes were obtained in all patients. The medical records and video-EEG recordings were analyzed to correlate the MRI findings with clinical data, seizure semiology, and EEG findings. HA was found in seven patients (35%). Neuroimaging abnormalities concordant with the side of HA were seen in all cases. There was clinical or EEG evidence of temporal spread in 12 patients. There was no correlation between the presence of HA and temporal lobe spread. The only clinical factor associated with HA in this series was a younger age of seizure onset. HA in patients with occipitoparietal epilepsy due to congenital developmental abnormalities is most likely to be a marker of a more widespread process related to a common pathogenesis during prenatal or perinatal development. HA in these patients is unlikely to be the result of secondary spread from an extrahippocampal focus. Surgical treatment should be tailored toward the primary epileptogenic zone rather the site of seizure spread.

Abnormal vaginal colonization by gram-negative bacteria is significantly higher in pregnancy conceived through infertility treatment compared to natural pregnancy.

PubMed

Kim, Ji Y; Sung, Ji-Hee; Chang, Kylie Hae-Jin; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

2017-03-01

To compare abnormal vaginal colonization between natural pregnancy and pregnancy by infertility treatment in high-risk parturient women and to examine the association between abnormal vaginal colonization and early-onset neonatal sepsis (EONS). The clinical characteristics, vaginal culture result, and delivery outcome of patients who admitted to our high-risk unit between 2005 and 2014 were retrospectively reviewed and compared. We investigated the prevalence of EONS according to maternal vaginal colonization and examined the concordance between maternal vaginal bacteria and etiologic microorganism causing EONS. Among 1096 pregnancies, the rate of vaginal colonization by gram-negative bacteria, especially Escherichia coli was significantly higher in pregnancies by infertility treatment after adjustment of confounding variables (E. coli, OR [95% CI]: 2.47 [1.33-4.57], p = 0.004). The rate of EONS was significantly higher in neonates with maternal abnormal vaginal bacteria colonization (OR [95% CI]: 3.38 [1.44-7.93], p = 0.005) after adjusting for confounding variables. Notably, among microorganisms isolated from maternal vagina, E. coli and Staphylococcus aureus were consistent with the results from neonatal blood culture in EONS. Our data implicate a possible association between gram-negative bacteria colonization and infertility treatment and suggest that maternal vaginal colonization may be associated with EONS of neonates in high-risk pregnancy.

Critical care for patients with congenital abnormalities of the coronary arteries.

PubMed

Flores, Saul; Moore, Ryan A; Statile, Christopher J; Michelfelder, Erik C; Wanstrath, Shawna G; Knilans, Timothy K; Morales, David L; Cooper, David S

2015-12-01

Congenital abnormalities of the coronary arteries in the absence of structural heart disease account for a small but interesting percentage of cardiac lesions in children. Their presentation may vary from incidental identification to aborted/sudden cardiac death. Patients with aborted sudden death episodes will require significant support if they develop extensive ischaemic myocardial injury. Ultimately, surgical repair should be carried out as soon as haemodynamic stability is attained and the neurological status is evaluated. The aims of this article were to provide a review of congenital abnormalities of the coronary arteries most commonly seen in children in the ICU as well as to review the current critical-care management thereof.

Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

PubMed

Czeizel, Andrew E; Puhó, Erzsébet; Sørensen, Henrik T; Olsen, Jørn

2004-06-01

The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentiated. Cases with congenital abnormalities were compared with their matched controls without congenital abnormalities in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 38,151 newborn infants without any congenital abnormalities (control group), 163 (0.4%) had mothers who were treated with the sulfonamides studied during pregnancy, while of 22,843 cases with congenital abnormalities, 140 (0.6%) had mothers who were treated with the sulfonamides studied during pregnancy. The analysis of cases and matched controls indicated a higher rate of cardiovascular malformation (adjusted prevalence odds ratios [POR] with 95% CI: 3.5, 1.9-6.4) and clubfoot (adjusted POR with 95% CI: 2.6, 1.1-6.2) in infants born to mothers with sulfonamide treatment in the second and third months of pregnancy. The detailed analysis of different sulfonamides showed a possible association between cardiovascular malformations (adjusted POR with 95%; CI: 6.5, 2.6-15.9), particularly ventricular septal defect (17.1, 1.3-141.1) and sulfamethoxydiazine during the second and third months of pregnancy. In addition, a possible association was found between clubfoot and sulfathiourea, both during the entire pregnancy (adjusted POR with 95% CI: 2.3, 1.2-4.3) and in the second and third months of gestation (3.9, 1.1-13.8). Thus, maternal treatment of sulfamethoxydiazine may cause ventricular septal defect, while sulfathiourea may induce clubfoot; however, further studies are needed to verify or reject these associations.

Treatment of patients with a congenital transversal vaginal septum or a partial aplasia of the vagina. The vaginal pull-through versus the push-through technique.

PubMed

van Bijsterveldt, Chantal; Willemsen, Wim

2009-06-01

The aim of this study is to describe the different modalities of congenital obstructing vaginal malformations and the evaluation of techniques to solve the problem. A retrospective study. The University Hospital Nijmegen, the Netherlands. The medical records of 18 patients with congenital obstructive malformations of the vagina operated on by one gynecologist were retrospectively reviewed. The conditions were classified in three groups: group I with one uterus and vagina and with a transverse vaginal septum, group II with a partial vaginal agenesis and group III with a double genital system and a septum with occlusion of one vagina. Operating technique used, mold treatment after surgery, menstruation outflow, the possibility of having intercourse and the need for additional surgery. 18 patients were evaluated. Of 10 patients in group I, 8 patients were treated with the pull-through technique and 2 patients with the push-through technique. Four of the patients with a pull-through operation did not get mold treatment; of these patients, 3 needed repeat surgery because of the tendency for constriction. Of 4 patients in group II, 1 patient was treated with the pull-through technique and 3 with the push-through technique. The patient with the pull-through technique needed repeat surgery because of constriction. There was no mold treatment after the first procedure. Group III were 4 patients all treated with the pull-through technique. None of them received mold treatment, and none of these patients needed repeat surgery. The push-through method is a good surgical technique for the patients in whom problems of constriction after surgery are expected and for patients with difficulties during surgery. Mold treatment is recommended after surgery in patients with a thick transversal vaginal septum or a partial vaginal aplasia.

Minimally invasive per-catheter occlusion and dilation procedures for congenital cardiovascular abnormalities in dogs.

PubMed

Tobias, Anthony H; Stauthammer, Christopher D

2010-07-01

With ever-increasing sophistication of veterinary cardiology, minimally invasive per-catheter occlusion and dilation procedures for the treatment of various congenital cardiovascular abnormalities in dogs have become not only available, but mainstream. Much new information about minimally invasive per-catheter patent ductus arteriosus occlusion has been published and presented during the past few years. Consequently, patent ductus arteriosus occlusion is the primary focus of this article. Occlusion of other less common congenital cardiac defects is also briefly reviewed. Balloon dilation of pulmonic stenosis, as well as other congenital obstructive cardiovascular abnormalities is discussed in the latter part of the article.

Vaginal reconstruction with sigmoid colon in patients with congenital absence of vagina and menses retention: a report of treatment experience in 22 young women.

PubMed

Yang, Bin; Wang, Ning; Zhang, Shulan; Wang, Mingqian

2013-01-01

We evaluated the surgical feasibility, sexual satisfaction and complications of vaginal reconstruction with sigmoid colon in patients with congenital absence of vagina and menses retention. Retrospective analysis of surgical techniques and long-term postoperative follow-up was performed for 22 patients who underwent vaginal reconstruction with sigmoid colon at a single hospital between 1977 and 2011 to treat congenital absence of vagina with menses retention. All patients achieved satisfactory sexual function after marriage. No patients experienced enterospastic abdominal pain during sexual intercourse. The neovaginas accommodated two or more fingers and had depths >10 cm. The mucous membranes were soft and flexible, and secretions of the sigmoid mucosa provided adequate and acceptable lubrication. No patient required vaginal stents, and none developed vaginal stenosis or reported pain with vaginal expansion. Fifteen of the 22 patients underwent hysterectomies due to cervical agenesis; seven retained their uterus and had onset of normal menses postoperatively. Two patients became pregnant 1 year after marriage; one achieved 38-week gestation, underwent cesarean section due to premature rupture of membranes, and delivered a healthy boy. The other experienced natural incomplete abortion and underwent curettage at her local hospital. This study confirms that sigmoid colon vaginal reconstruction is a good choice for treating congenital absence of vagina and menses retention and results in the closest approximation to the physical function of a normal female vagina. Reproductive ability can be retained in many cases for patients with a well-developed uterus and cervix.

Three-dimensional echocardiography of congenital abnormalities of the left atrioventricular valve

PubMed Central

Rice, Kathryn

2015-01-01

Congenital abnormalities of the left atrioventricular (AV) valve are a significant diagnostic challenge. Traditionally, reliance has been placed on two-dimensional echocardiographic (2DE) imaging to guide recognition of the specific morphological features. Real-time 3DE can provide unique views of the left AV valve with the potential to improve understanding of valve morphology and function to facilitate surgical planning. This review illustrates the features of congenital abnormalities of the left AV valve assessed by 3DE. The similarities and differences in morphology between different lesions are described, both with respect to the valve itself and supporting chordal apparatus. The potential advantages as well as limitations of this technique in clinical practice are outlined. PMID:26693328

Three-dimensional echocardiography of congenital abnormalities of the left atrioventricular valve.

PubMed

Rice, Kathryn; Simpson, John

2015-03-01

Congenital abnormalities of the left atrioventricular (AV) valve are a significant diagnostic challenge. Traditionally, reliance has been placed on two-dimensional echocardiographic (2DE) imaging to guide recognition of the specific morphological features. Real-time 3DE can provide unique views of the left AV valve with the potential to improve understanding of valve morphology and function to facilitate surgical planning. This review illustrates the features of congenital abnormalities of the left AV valve assessed by 3DE. The similarities and differences in morphology between different lesions are described, both with respect to the valve itself and supporting chordal apparatus. The potential advantages as well as limitations of this technique in clinical practice are outlined.

[Association of folate metabolism genes MTRR and MTHFR with complex congenital abnormalities among Chinese population in Shanxi Province, China].

PubMed

Zhang, Qin; Bai, Bao-Ling; Liu, Xiao-Zhen; Miao, Chun-Yue; Li, Hui-Li

2014-08-01

To explore the association of polymorphisms in folate metabolism genes, methionine synthase reductase (MTRR) gene and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with complex congenital abnormalities and to further investigate its association with complex congenital abnormalities derived from three germ layers. A total of 250 cases of birth defects (with complex congenital abnormalities including congenital heart disease, neural tube defects, and craniofacial anomalies) in Shanxi Province, China were included in the study. MTRR single nucleotide polymorphism (SNP) (rs1801394) and MTHFR SNP (rs1801133) were genotyped by the SNaPshot method, and the genotyping results were compared with those of controls (n=420). SNPs rs1801394 and rs1801133 were associated with multiple birth defects. For the recessive model, individuals with GG genotype at rs1801394 and CC genotype at rs1801133 had a relatively low risk of developing birth defects, so the two genotypes were protective factors against birth defects. The homozygous recessive genotype at rs1801133, which served as a protective factor, was associated with ectoderm- or endoderm-derived complex congenital abnormalities, while the homozygous recessive genotype at rs1801394, which served as a protective factor, was associated with ectoderm-, mesoderm- or endoderm-derived complex congenital abnormalities. Among the Chinese population in Shanxi Province, the SNPs in folate metabolism genes (MTRR and MTHFR) are associated with complex congenital abnormalities and related to ectoderm, mesoderm or endoderm development.

Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia.

PubMed

Zhang, Ying; Chen, Yisong; Hua, Keqin

2017-09-01

To introduce our experience of robotic surgery of reconstructive uterovaginal anastomosis and operative outcomes in congenital cervical and vaginal atresia patients. Clinical observation and follow-up of four patients with congenital cervical and vaginal atresia who underwent robotic reconstruction of cervix and vagina by SIS (small intestinal submucosa, SIS) graft. Average patient age was 13.8 ± 2.2. Patients complained of severe periodic abdominal pain. Diagnosis was made according to clinical characteristics, physical examination, MRI and classified by ESHRE/ESGE system. All patients underwent reconstruction of cervix and vagina by uterovaginal anastomosis by SIS graft. Average operation time was 232.5 ± 89.2 min, average blood loss was 225.0 ± 95.7 mL. After surgery, all patients have regular menstruation without pain. Average follow up was 12 months, average vagina length was 8.9 ± 0.3 cm, average vagina width was 2.9 ± 0.1 cm. Robotic assisted reconstruction of cervix and vagina is feasible from our experience, enlarged cases and additional studies are required. © 2017 The Authors The International Journal of Medical Robotics and Computer Assisted Surgery Published by John Wiley & Sons Ltd.

Easiness of use and validity testing of VS-SENSE device for detection of abnormal vaginal flora and bacterial vaginosis.

PubMed

Donders, Gilbert G G; Marconi, Camila; Bellen, Gert

2010-01-01

Accessing vaginal pH is fundamental during gynaecological visit for the detection of abnormal vaginal flora (AVF), but use of pH strips may be time-consuming and difficult to interpret. The aim of this study was to evaluate the VS-SENSE test (Common Sense Ltd, Caesarea, Israel) as a tool for the diagnosis of AVF and its correlation with abnormal pH and bacterial vaginosis (BV). The study population consisted of 45 women with vaginal pH ≥ 4.5 and 45 women with normal pH. Vaginal samples were evaluated by VS-SENSE test, microscopy and microbiologic cultures. Comparing with pH strips results, VS-SENSE test specificity was 97.8% and sensitivity of 91%. All severe cases of BV and aerobic vaginitis (AV) were detected by the test. Only one case with normal pH had an unclear result. Concluding, VS-SENSE test is easy to perform, and it correlates with increased pH, AVF, and the severe cases of BV and AV.

Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.

PubMed

Kimani, Jane W; Buchman, Craig A; Booker, Jessica K; Huang, Benjamin Y; Castillo, Mauricio; Powell, Cynthia M; Weck, Karen E

2010-10-01

To examine the incidence of congenital cytomegalovirus (CMV) infection relative to common genetic etiologies of hearing loss in a pediatric population with sensorineural hearing loss (SNHL), and to characterize intracranial radiological abnormalities in patients with CMV-associated hearing loss. Retrospective study. Academic tertiary care center. A total of 112 pediatric patients with confirmed SNHL. The association of congenital CMV infection status with abnormal brain magnetic resonance imaging (MRI) scans and the frequencies of congenital CMV infection, gap junction β-2 (GJB2) mutations, and the mitochondrial DNA (mtDNA) 1555A>G mutation in children with SNHL. Of 109 patients, 11 (10%) had positive results for CMV DNA; 10 of the 11 had normal GJB2 sequence and had negative test results for the mtDNA 1555A>G mutation. Brain MRI scans for 97 patients demonstrated a higher proportion of abnormalities in patients with positive CMV test results (80%) compared with those with no detectable CMV DNA (33%) (P = .006). GJB2 mutations and the mtDNA 1555A>G mutation were seen in 10 of 88 patients (11%) and 1 of 97 patients (1%) with SNHL, respectively. The presence of brain abnormalities in most patients with congenital CMV infection suggests that neurological damage in otherwise asymptomatic patients may not be limited to SNHL. Congenital CMV infection accounted for a significant proportion of patients with SNHL, with an incidence rate comparable with that of GJB2-related SNHL.

Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males.

PubMed

Halparin, Jessica; Monagle, Paul; Newall, Fiona

2015-04-01

Congenital anatomic abnormality of the inferior vena cava (IVC) is an important risk factor for the development of spontaneous proximal lower extremity deep vein thrombosis (DVT) in young adults. The incidence of DVT associated with congenital IVC anomalies in paediatric populations has not been described, and the implications of IVC anomalies for treatment and outcomes of DVT are unknown. This study reports a series of five adolescent males with spontaneous lower extremity DVTs and underlying congenital IVC abnormalities. Cases were identified by searching the institutional database of patients treated with anticoagulation for venous thromboembolism at a tertiary children's hospital. The demographics, clinical presentations, imaging findings, treatment courses, and outcomes are described. All cases occurred in males, and accounted for approximately twenty percent of adolescent males presenting with DVT. IVC abnormality is likely an under-recognized risk factor for DVT in this age group, and detailed vascular imaging should be pursued in adolescents with spontaneous proximal lower extremity DVT when initial ultrasonography does not delineate the proximal clot extent. Management requires individual risk-benefit assessment in the context of providing developmentally appropriate care. Further research is required to establish long-term outcomes and determine optimal treatment strategies. Copyright © 2015 Elsevier Ltd. All rights reserved.

Detection and Type-Distribution of Human Papillomavirus in Vulva and Vaginal Abnormal Cytology Lesions and Cancer Tissues from Thai Women.

PubMed

Ngamkham, Jarunya; Boonmark, Krittika; Phansri, Thainsang

2016-01-01

Vulva and Vaginal cancers are rare among all gynecological cancers worldwide, including Thailand, and typically affect women in later life. Persistent high risk human papillomavirus (HR-HPV) infection is one of several important causes of cancer development. In this study, we focused on HPV investigation and specific type distribution from Thai women with abnormality lesions and cancers of the vulva and Vaginal. A total of ninety paraffin-embedded samples of vulva and Vaginal abnormalities and cancer cells with histologically confirmed were collected from Thai women, who were diagnosed in 2003-2012 at the National Cancer Institute, Thailand. HPV DNA was detected and genotyped using polymerase chain reaction and enzyme immunoassay with GP5+/ bio 6+ consensus specific primers and digoxigenin-labeled specific oligoprobes, respectively. The human β-globin gene was used as an internal control. Overall results represented that HPV frequency was 16/34 (47.1%) and 8/20 (40.0%) samples of vulva with cancer and abnormal cytology lesions, respectively, while, 3/5 (60%) and 16/33 (51.61%) samples of Vaginal cancer and abnormal cytology lesions, respectively, were HPV DNA positive. Single HPV type and multiple HPV type infection could be observed in both type of cancers and abnormal lesion samples in the different histological categorizes. HPV16 was the most frequent type in all cancers and abnormal cytology lesions, whereas HPV 18 was less frequent and could be detected as co-infection with other high risk HPV types. In addition, low risk types such as HPV 6, 11 and 70 could be detected in Vulva cancer and abnormal cytology lesion samples, whereas, all Vaginal cancer samples exhibited only high risk HPV types; HPV 16 and 31. In conclusion, from our results in this study we suggest that women with persistent high risk HPV type infection are at risk of developing vulva and Vaginal cancers and HPV 16 was observed at the highest frequent both of these, similar to the cervical

Screening for abnormal vaginal microflora by self-assessed vaginal pH does not enable detection of sexually transmitted infections in Ugandan women.

PubMed

Donders, Gilbert G G; Donders, Francesca; Bellen, Gert; Depuydt, Christophe; Eggermont, Natalie; Michiels, Thirsa; Lule, John; Byamughisa, Jacobat

2016-06-01

Is self-assessed vaginal pH measurement to detect abnormal vaginal bacterial microflora (AVF) an adequate prescreening method for detection of genital sexually transmitted infections (STIs)? A total of 360 Ugandan women tested themselves with a gloved finger and a pH color strip. PCR for bacterial vaginosis (BV)-associated bacteria was tested by PCR for Mycoplasma hominis, Ureaplasma urealyticum, and/or Atopobium vaginae, while the STIs were diagnosed by positive PCR for Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, and/or Trichomonas vaginalis. A strong correlation was found between self-assessed pH values and BV-associated bacteria (P<0.0001), but not with STIs, not as single infections, nor in general. Self-measured vaginal pH correlated well with markers of high-risk microflora types such as BV or aerobic vaginitis, but not with STIs. Hence, in a screening program addressing AVF in low-resource countries, extra specific tests are required to exclude STIs. Copyright © 2015 Elsevier Inc. All rights reserved.

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d'Ivoire.

PubMed

Kouame, Bertin Dibi; N'guetta-Brou, Isabelle Ama; Kouame, Guy Serge Yapo; Sounkere, Moufidath; Koffi, Maxime; Yaokreh, Jean Baptiste; Odehouri-Koudou, Thierry; Tembely, Samba; Dieth, Gaudens Atafi; Ouattara, Ossenou; Dick, Ruffin

2015-01-01

Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d'Ivoire. It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery.

Comparison of small intestinal submucosa graft with split-thickness skin graft for cervicovaginal reconstruction of congenital vaginal and cervical aplasia.

PubMed

Shen, Fang; Zhang, Xu-Yin; Yin, Chu-Yang; Ding, Jing-Xin; Hua, Ke-Qin

2016-11-01

What is the difference in vaginal-length gain and resumption of menstruation following cervicovaginal reconstruction using split-thickness skin (STS) graft versus small intestinal submucosa (SIS) graft for patients with congenital vaginal and cervical aplasia? No difference was found in the number of patients who resumed menstruation between the two groups; however, significantly greater vaginal-length gain was found in the STS group. Hysterectomy and vaginoplasty are typically recommended for patients without a cervix or without a sufficient cervix to avoid postoperative re-obstruction. Advances in surgical techniques have enabled the use of autologous tissues or heterologous biological grafts for reconstructive procedures, allowing patients undergoing these procedures to preserve the possibility of conception. This was a retrospective study of 26 women who were diagnosed with congenital vaginal and cervical aplasia with a functional endometrial cavity and underwent cervicovaginal reconstruction using STS or SIS grafts between January 2012 and October 2015 at the Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China. 15 women underwent cervicovaginal reconstruction using SIS graft and 11 underwent cervicovaginal reconstruction using STS graft. Clinical characteristics, perioperative data, resumption of menstruation, vaginal stenosis, length of the neovagina, vaginal-length gain, stricture of the cervix and body image were postoperatively assessed. At a median follow-up of 21 (2-46) months, all but one of the patients experienced relief of abdominal pain and resumed menstruation. Re-obstruction of the cervix occurred in only one patient in the SIS group. The SIS group reported significantly higher body image scores and cosmetic satisfaction. Although the two groups had a similar vaginal length before surgery, the vaginal-length gain was significantly greater in the STS group (4.9 ± 1.7 cm in the SIS group versus 7.5 ± 0.7 cm in the STS group

Easiness of Use and Validity Testing of VS-SENSE Device for Detection of Abnormal Vaginal Flora and Bacterial Vaginosis

PubMed Central

Donders, Gilbert G. G.; Marconi, Camila; Bellen, Gert

2010-01-01

Accessing vaginal pH is fundamental during gynaecological visit for the detection of abnormal vaginal flora (AVF), but use of pH strips may be time-consuming and difficult to interpret. The aim of this study was to evaluate the VS-SENSE test (Common Sense Ltd, Caesarea, Israel) as a tool for the diagnosis of AVF and its correlation with abnormal pH and bacterial vaginosis (BV). The study population consisted of 45 women with vaginal pH ≥ 4.5 and 45 women with normal pH. Vaginal samples were evaluated by VS-SENSE test, microscopy and microbiologic cultures. Comparing with pH strips results, VS-SENSE test specificity was 97.8% and sensitivity of 91%. All severe cases of BV and aerobic vaginitis (AV) were detected by the test. Only one case with normal pH had an unclear result. Concluding, VS-SENSE test is easy to perform, and it correlates with increased pH, AVF, and the severe cases of BV and AV. PMID:20953405

Predictive value for preterm birth of abnormal vaginal flora, bacterial vaginosis and aerobic vaginitis during the first trimester of pregnancy.

PubMed

Donders, G G; Van Calsteren, K; Bellen, G; Reybrouck, R; Van den Bosch, T; Riphagen, I; Van Lierde, S

2009-09-01

Abnormal vaginal flora (AVF) before 14 gestational weeks is a risk factor for preterm birth (PTB). The presence of aerobic microorganisms and an inflammatory response in the vagina may also be important risk factors. The primary aim of the study was to investigate the differential influences of AVF, full and partial bacterial vaginosis, and aerobic vaginitis in the first trimester on PTB rate. The secondary aim was to elucidate why treatment with metronidazole has not been found to be beneficial in previous studies. Unselected women with low-risk pregnancies attending the prenatal unit of the Heilig Hart General Hospital in Tienen, Belgium, were included in the study. At the first prenatal visit, 1026 women were invited to undergo sampling of the vaginal fluid for wet mount microscopy and culture, of whom 759 were fully evaluable. Abnormal vaginal flora (AVF; disappearance of lactobacilli), bacterial vaginosis (BV), aerobic vaginitis (AV), increased inflammation (more than ten leucocytes per epithelial cell) and vaginal colonisation with Candida (CV) were scored according to standardised definitions. Partial BV was defined as patchy streaks of BV flora or sporadic clue cells mixed with other flora, and full BV as a granular anaerobic-type flora or more than 20% clue cells. Vaginal fluid was cultured for aerobic bacteria, Mycoplasma hominis and Ureaplasma urealyticum. Outcome was recorded as miscarriage abnormalities of the vaginal flora in the first trimester had a 75% lower risk of delivery before 35 weeks compared with women with AVF [odds ratio (OR) 0

Vaginal lactobacilli profile in pregnant women with normal & abnormal vaginal flora.

PubMed

Yeruva, Thirupathaiah; Rajkumar, Hemalatha; Donugama, Vasundhara

2017-10-01

Lactobacilli species that are better adapted to vaginal environment of women may colonize better and offer protection against vaginal pathogenic bacteria. In this study, the distribution of common Lactobacillus species was investigated in pregnant women. Sixty seven pregnant women were included in the study and vaginal samples were collected for Gram staining. Women were classified as normal vaginal flora, intermediate flora and bacterial vaginosis (BV) based on Nugent's score. Vaginal samples were also collected for the identification of Lactobacillus spp. by multiplex polymerase chain reaction (PCR) profiling of 16S rDNA amplification method. Lactobacillus crispatus (100%) was the most predominant Lactobacillus spp. present in pregnant women with normal flora, followed by L. iners (77%), L. jensenii (74%) and L. helveticus (60%). While, L. iners was commonly present across groups in women with normal, intermediate or BV flora, L. crispatus, L. jensenii and L. helveticus decreased significantly as the vaginal flora changed to intermediate and BV. In women with BV, except L. iners other species of lactobacilli was less frequently prevalent. Species such as L. rhamnosus, L. fermentum, L. paracasei and L. casei were not detected in any vaginal sample. L. crispatus, L. jensinii and L. helveticus were predominant species in women with normal flora. L. crispatus alone or in combination with L. jensinii and L. helveticus may be evaluated for probiotic properties for the prevention and treatment of BV.

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d’Ivoire

PubMed Central

Kouame, Bertin Dibi; N’guetta-Brou, Isabelle Ama; Kouame, Guy Serge Yapo; Sounkere, Moufidath; Koffi, Maxime; Yaokreh, Jean Baptiste; Odehouri-Koudou, Thierry; Tembely, Samba; Dieth, Gaudens Atafi; Ouattara, Ossenou; Dick, Ruffin

2015-01-01

Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d’Ivoire. Materials and Methods: It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Results: Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. Conclusion: This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery. PMID:25659551

Bicornuate uterine horns with complete cervical-vaginal agenesis and congenital vesicouterine fistula.

PubMed

Kumar, Santosh; Singh, S K; Mavuduru, Ravi; Naveen, A; Agarwal, M M; Vanita, Jain; Mandal, A K

2008-05-01

We present a case of bicornuate uterine horns with complete cervico-vaginal agenesis and associated congenital uterovaginal fistula. The patient presented with cyclical hematuria, amenorrhea, and abdominal lump. The vagina was blind-ending. The cystoscopic examination during cyclical hematuria revealed bloody efflux through a small fistula on the posterior wall of the urinary bladder. The magnetic resonance imaging (MRI) showed bicornuate uterus and cervical agenesis. Hysterectomy and repair of the uterovesical fistula was done. The vagina was reconstructed using an amniotic mould. The report underlies the importance of MRI in diagnosing complexity of such rare anomalies. It also stresses for the need of hysterectomy if cervicovaginal agenesis is present.

Vaginal Microbiota.

PubMed

Mendling, Werner

2016-01-01

The knowledge about the normal and abnormal vaginal microbiome has changed over the last years. Culturing techniques are not suitable any more for determination of a normal or abnormal vaginal microbiota. Non culture-based modern technologies revealed a complex and dynamic system mainly dominated by lactobacilli.The normal and the abnormal vaginal microbiota are complex ecosystems of more than 200 bacterial species influenced by genes, ethnic background and environmental and behavioral factors. Several species of lactobacilli per individuum dominate the healthy vagina. They support a defense system together with antibacterial substances, cytokines, defensins and others against dysbiosis, infections and care for an normal pregnancy without preterm birth.The numbers of Lactobacillus (L.) iners increase in the case of dysbiosis.Bacterial vaginosis (BV) - associated bacteria (BVAB), Atopobium vaginae and Clostridiales and one or two of four Gardnerella vaginalis - strains develop in different mixtures and numbers polymicrobial biofilms on the vaginal epithelium, which are not dissolved by antibiotic therapies according to guidelines and, thus, provoke recurrences.Aerobic vaginitis seems to be an immunological disorder of the vagina with influence on the microbiota, which is here dominated by aerobic bacteria (Streptococcus agalactiae, Escherichia coli). Their role in AV is unknown.Vaginal or oral application of lactobacilli is obviously able to improve therapeutic results of BV and dysbiosis.

Congenital abnormalities (a bibliography with abstracts). Report for 1964-Nov 77

DOE Office of Scientific and Technical Information (OSTI.GOV)

Harrison, E.A.

1977-11-01

Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography. (This updated bibliography contains 141 abstracts, 30 of which are new entries to the previous edition.)

Congenital abnormalities (a bibliography with abstracts). Report for 1964-November 1979

DOE Office of Scientific and Technical Information (OSTI.GOV)

Harrison, E.A.

1979-12-01

Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography. (This updated bibliography contains 184 abstracts, 18 of which are new entries to the previous edition.)

Nonsurgical correction of congenital ear abnormalities in the newborn: Case series.

PubMed

Smith, Wg; Toye, Jw; Reid, A; Smith, Rw

2005-07-01

To determine whether a simple, nonsurgical treatment for congenital ear abnormalities (lop-ear, Stahl's ear, protruding ear, cryptotia) improved the appearance of ear abnormalities in newborns at six weeks of age. This is a descriptive case series. All newborns with identified abnormalities were referred by their family physician to one paediatrician (WGS) in a small level 2 perinatal centre. The ears were waxed and taped in a standard manner within 10 days of birth. Pictures were taken before taping and at the end of taping (one month). All patients and pictures were assessed by one plastic surgeon (JWT) at six weeks of age and scored using a standard scoring system. A telephone survey of the nontreatment group was conducted. The total number of ears assessed was 90. Of this total, 69 ears were taped and fully evaluated in the study (77%). The refusal rate was 23%. In the treatment group, 59% had lop-ear, 19% had Stahl's ear, 17% had protruding ear and 3% had cryptotia. Overall correction (excellent/improved) for the treatment group was 90% (100% for lop-ear, 100% for Stahl's ear, 67% for protruding ear and 0% for cryptotia). In the nontreatment (refusal) group, 67% of the ears failed to correct spontaneously. No complications were recognized by the authors or parents by six weeks. The percentage of newborns in one year in the perinatal centre with recognized ear abnormalities was 6% (90 of 1600). A simple, nonsurgical treatment in a Caucasian population appeared to be very effective in correcting congenital ear abnormalities with no complications and high patient/parent satisfaction.

Treatment of abnormal vaginal flora in early pregnancy with clindamycin for the prevention of spontaneous preterm birth: a systematic review and metaanalysis

PubMed Central

Lamont, Ronald F.; Nhan-Chang, Chia-Ling; Sobel, Jack D.; Workowski, Kimberly; Conde-Agudelo, Agustin; Romero, Roberto

2011-01-01

The purpose of this study was to determine whether the administration of clindamycin to women with abnormal vaginal flora at <22 weeks of gestation reduces the risk of preterm birth and late miscarriage. We conducted a systematic review and metaanalysis of randomized controlled trials of the early administration of clindamycin to women with abnormal vaginal flora at <22 weeks of gestation. Five trials that comprised 2346 women were included. Clindamycin that was administered at <22 weeks of gestation was associated with a significantly reduced risk of preterm birth at <37 weeks of gestation and late miscarriage. There were no overall differences in the risk of preterm birth at <33 weeks of gestation, low birthweight, very low birthweight, admission to neonatal intensive care unit, stillbirth, peripartum infection, and adverse effects. Clindamycin in early pregnancy in women with abnormal vaginal flora reduces the risk of spontaneous preterm birth at <37 weeks of gestation and late miscarriage. There is evidence to justify further randomized controlled trials of clindamycin for the prevention of preterm birth. However, a deeper understanding of the vaginal microbiome, mucosal immunity, and the biology of bacterial vaginosis will be needed to inform the design of such trials. PMID:22071048

Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

PubMed

Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

2014-08-01

In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Vaginal Fistula

MedlinePlus

Vaginal fistula Overview A vaginal fistula is an abnormal opening that connects your vagina to another organ, such as your bladder, colon or rectum. Your ... describe the condition as a hole in your vagina that allows stool or urine to pass through ...

[Research on the incidence and prevalence of congenital abnormalities in Iaşi district and Iaşi city, from 2001 to 2008].

PubMed

Chiosac, Alina Andreea Andreescu; Manole, Alina; Gorduza, E V; Stamatin, Maria; Titianus, Monica; Ivan, A

2010-01-01

Congenital abnormalities (CA) are deviations from the normal embryonic development that appear antenatal and they are characterized by the alteration of the morphology and function of an organ, system of organs or even of the entire body. The study, on a period of eight years, included 1685 children with CA, from which 58% were males and 50% were from the country-side. It has been observed that 36% of the CA cases were premature births and 64% were normal term births. Also, 21% of the children with CA weighed less than 2700 grams at birth and 79% weighed more than 2700 grams at birth. The birth's APGAR score has been less than 7 in 30% of the cases and higher than 7 in 70% of the cases. 72% of the cases were natural births and 28% were caesarian births. 88% of the CA cases were singular congenital abnormalities and 12% were multiple congenital abnormalities. 24% of the CA were cardiac abnormalities and 21% were skeletal abnormalities. 3% of the subjects of the study have died, of which 69% died from cardiac abnormalities, 22% from hydrocephalus abnormalities, 7% from diaphragmatic hernia and 2% from renal congenital abnormalities.

Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

PubMed

Basinko, Audrey; Giovannucci Uzielli, Maria Luisa; Scarselli, Gloria; Priolo, Manuela; Timpani, Giuseppina; De Braekeleer, Marc

2012-02-01

We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5p13.2-3 to 5pter and measured 34.61 Mb (range: 33.7-35.52 Mb) while the 5q deletion extended from 5q35.3 to 5qter and measured 2.44 Mb (range: 2.31-2.57 Mb). The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the "cri-du-chat" syndrome. The most striking phenotypic features were the congenital heart abnormalities which have been frequently reported in deletions of the distal part of the long arm of chromosome 5 and in rings leading to a 5q35-5qter deletion. However, the NKX2-5 gene, which has been related to congenital heart defects, was not deleted in our patient, nor presumably to some other patients with 5q35.3-5qter deletion. We propose that VEGFR3, deleted in our patient, could be a candidate gene for the congenital heart abnormalities observed. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Effect of early oral clindamycin on late miscarriage and preterm delivery in asymptomatic women with abnormal vaginal flora and bacterial vaginosis: a randomised controlled trial.

PubMed

Ugwumadu, Austin; Manyonda, Isaac; Reid, Fiona; Hay, Phillip

2003-03-22

Abnormal vaginal flora and bacterial vaginosis are associated with amplified risks of late miscarriage and spontaneous preterm delivery. We aimed to establish whether antibiotic treatment early in the second trimester might reduce these risks in a general obstetric population. We screened 6120 pregnant women attending hospital for their first antenatal visit--who were at 12-22 weeks' gestation (mean 15.6 weeks)--for bacterial vaginosis or abnormal vaginal flora. We used gram-stained slides of vaginal smears to diagnose abnormal vaginal flora or bacterial vaginosis, in accordance with Nugent's criteria. We randomly allocated 494 women with one of these signs to receive either clindamycin 300 mg or placebo orally twice daily for 5 days. Primary endpoints were spontaneous preterm delivery (birth > or =24 but <37 weeks) and late miscarriage (pregnancy loss > or =13 but <24 weeks). Analysis was intention to treat. Nine women were lost to follow-up or had elective termination. Thus, we analysed 485 women with complete outcome data. Women receiving clindamycin had significantly fewer miscarriages or preterm deliveries (13/244) than did those in the placebo group (38/241; percentage difference 10.4%, 95% CI 5.0-15.8, p=0.0003). Clindamycin also reduced adverse outcomes across the range of abnormal Nugent scores, with maximum effect in women with the highest Nugent score of 10. Treatment of asymptomatic abnormal vaginal flora and bacterial vaginosis with oral clindamycin early in the second trimester significantly reduces the rate of late miscarriage and spontaneous preterm birth in a general obstetric population.

The frequent shift to intermediate flora in preterm delivery cases after abnormal vaginal flora screening

PubMed Central

Honda, Hiroshi; Yokoyama, Takanori; Akimoto, Yumiko; Tanimoto, Hirotoshi; Teramoto, Mitsue; Teramoto, Hideki

2014-01-01

The effect of screening and treatment for abnormal vaginal flora on the reduction of preterm deliveries remains controversial. We evaluated whether this screening and treatment reduces the preterm delivery rate for general-population pregnant women. Pregnant women of the Intervention group (n = 574) underwent the screening test and the treatment of vaginal metronidazole during the early second trimester, and those of the Control group (n = 1,161) did not. We compared the preterm delivery rate between these two groups. We also compared the profiles of vaginal flora of the preterm delivery cases with those of the pregnant women with a normal course. There was no significant difference in the preterm delivery rate between these two groups. However, in the preterm delivery cases, a frequent shift to intermediate flora was observed not before but after the screening in the Intervention group. This shift may explain why most of the previous studies failed in regard to the prevention of preterm deliveries. PMID:24762852

Successful vaginal delivery at term after vaginal reconstruction with labium minus flaps in a patient with vaginal atresia: A rare case report.

PubMed

Liu, Yu; Wang, Yi-Feng

2017-07-01

We report a case of successful vaginal delivery after vaginal reconstruction with labium minus flaps in a 23-year-old patient with congenital vaginal atresia. The patient primarily presented with amenorrhea and cyclic abdominal pain; transabdominal ultrasonography revealed an enlarged uterus due to hematometra and absence of the lower segment of the vagina. Eight years ago, she had undergone an unsuccessful attempt at canalization at a local hospital. Upon referral to our hospital, she underwent vaginal reconstruction with labium minus flaps. Four months after this procedure, she became pregnant and, subsequently, successfully and safely vaginally delivered a healthy female baby weighing 3250 g at 38 +1 weeks' gestation. The delivery did not involve perineal laceration by lateral episiotomy. To the best of our knowledge, this is the first reported case of successful vaginal delivery at term after vaginal reconstruction with labium minus flaps in a patient with vaginal atresia. © 2017 Japan Society of Obstetrics and Gynecology.

Vaginal Cancer

MedlinePlus

Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human ... test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its ...

Prospective randomized comparison of laparoscopic peritoneal vaginoplasty with laparoscopic sigmoid vaginoplasty for treating congenital vaginal agenesis.

PubMed

Cao, Lili; Wang, Yanzhou; Li, Yudi; Xu, Huicheng

2013-07-01

The aim of this study was to compare the effectiveness and long-term anatomic and functional results of laparoscopic peritoneal vaginoplasty and laparoscopic sigmoid vaginoplasty. From January 2002 to December 2010, 40 patients with congenital vaginal agenesis were prospectively randomized to undergo either laparoscopic peritoneal vaginoplasty (26 cases) or laparoscopic sigmoid vaginoplasty (14 cases) in 2:1 ratio. Pre- and postoperative examination findings, Female Sexual Function Index (FSFI) questionnaire responses, and sexual satisfaction rates are reported. All surgical procedures were performed successfully, with no intraoperative complications. The laparoscopic peritoneal vaginoplasty group had significantly less blood loss and a surgery shorter on average than the laparoscopic sigmoid colovaginoplasty group. Postoperative course was uneventful for all patients in both groups, though postoperative retention time and hospital stay were less for peritoneal vaginoplasty patients than for sigmoid vaginoplasty patients. Mean neovaginal length, excessive mucous production, sexual life initiation time, and sexual satisfaction rate were similar between groups. Patient complaints of abdominal discomfort, unusual odor from vaginal secretions, and vaginal contraction during intercourse were higher in the sigmoid colovaginoplasty group (p < 0.005 vs. peritoneal vaginoplasty). Postoperative FSFI scores did not differ significantly between groups. Relative to laparoscopic sigmoid colovaginoplasty, laparoscopic peritoneal vaginoplasty provides good anatomic and functional results and excellent patient satisfaction.

Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis.

PubMed

Khalil, A; Suff, N; Thilaganathan, B; Hurrell, A; Cooper, D; Carvalho, J S

2014-01-01

Studies have demonstrated an association between congenital heart disease (CHD) and neurodevelopmental delay. Neuroimaging studies have also demonstrated a high incidence of preoperative brain abnormalities. The aim of this study was to perform a systematic review to quantify the non-surgical risk of brain abnormalities and of neurodevelopmental delay in infants with CHD. MEDLINE, EMBASE and The Cochrane Library were searched electronically without language restrictions, utilizing combinations of the terms congenital heart, cardiac, neurologic, neurodevelopment, magnetic resonance imaging, ultrasound, neuroimaging, autopsy, preoperative and outcome. Reference lists of relevant articles and reviews were hand-searched for additional reports. Cohort and case-control studies were included. Studies reporting neurodevelopmental outcomes and/or brain lesions on neuroimaging in infants with CHD before heart surgery were included. Cases of chromosomal or genetic abnormalities, case reports and editorials were excluded. Between-study heterogeneity was assessed using the I(2) test. The search yielded 9129 citations. Full text was retrieved for 119 and the following were included in the review: 13 studies (n = 425 cases) reporting on brain abnormalities either preoperatively or in those who did not undergo congenital cardiac surgery and nine (n = 512 cases) reporting preoperative data on neurodevelopmental assessment. The prevalence of brain lesions on neuroimaging was 34% (95% CI, 24-46; I(2) = 0%) in transposition of the great arteries, 49% (95% CI, 25-72; I(2) = 65%) in left-sided heart lesions and 46% (95% CI, 40-52; I(2) =18.1%) in mixed/unspecified cardiac lesions, while the prevalence of neurodevelopmental delay was 42% (95% CI, 34-51; I(2) = 68.9). In the absence of chromosomal or genetic abnormalities, infants with CHD are at increased risk of brain lesions as revealed by neuroimaging and of neurodevelopmental delay. These findings are independent of the surgical risk

Genital shedding of human immunodeficiency virus type 1 DNA during pregnancy: association with immunosuppression, abnormal cervical or vaginal discharge, and severe vitamin A deficiency.

PubMed

John, G C; Nduati, R W; Mbori-Ngacha, D; Overbaugh, J; Welch, M; Richardson, B A; Ndinya-Achola, J; Bwayo, J; Krieger, J; Onyango, F; Kreiss, J K

1997-01-01

The presence of human immunodeficiency virus type 1 (HIV-1) in genital secretions may be a determinant of vertical HIV-1 transmission. Cervical and vaginal secretions from HIV-1-seropositive pregnant women were evaluated to determine prevalence and correlates of HIV-1-infected cells in the genital tract. HIV-1 DNA was detected by polymerase chain reaction in 32% of 212 cervical and 10% of 215 vaginal specimens. Presence of HIV-1 DNA in the cervix was associated with cervical mucopus and a significantly lower absolute CD4 cell count (354 vs. 469, P < .001). An absolute CD4 cell count <200 was associated with a 9.6-fold increased odds of cervical HIV-1 DNA detection compared with a count > or = 500 (95% confidence interval, 2.8-34.2). Detection of vaginal HIV- 1 DNA was associated with abnormal vaginal discharge, lower absolute CD4 cell count, and severe vitamin A deficiency. Presence of HIV-1-infected cells in genital secretions was associated with immunosuppression and abnormal cervical or vaginal discharge.

Genital Shedding of Human Immunodeficiency Virus Type 1 DNA during Pregnancy: Association with Immunosuppression, Abnormal Cervical or Vaginal Discharge, and Severe Vitamin A Deficiency

PubMed Central

John, Grace C.; Nduati, Ruth W.; Mbori-Ngacha, Dorothy; Overbaugh, Julie; Welch, Mary; Richardson, Barbra A.; Ndinya-Achola, Jeckoniah; Bwayo, Job; Krieger, John; Onyango, Francis; Kreiss, Joan K.

2012-01-01

The presence of human immunodeficiency virus type 1 (HIV-1) in genital secretions may be a determinant of vertical HIV-1 transmission. Cervical and vaginal secretions from HIV-1–seropositive pregnant women were evaluated to determine prevalence and correlates of HIV-1–infected cells in the genital tract. HIV-1 DNA was detected by polymerase chain reaction in 32% of 212 cervical and 10% of 215 vaginal specimens. Presence of HIV-1 DNA in the cervix was associated with cervical mucopus and a significantly lower absolute CD4 cell count (354 vs. 469, P < .001). An absolute CD4 cell count <200 was associated with a 9.6-fold increased odds of cervical HIV-1 DNA detection compared with a count ≥500 (95% confidence interval, 2.8–34.2). Detection of vaginal HIV-1 DNA was associated with abnormal vaginal discharge, lower absolute CD4 cell count, and severe vitamin A deficiency. Presence of HIV-1–infected cells in genital secretions was associated with immunosuppression and abnormal cervical or vaginal discharge. PMID:8985196

Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests.

PubMed

Quante, Saskia; Fracassi, Federico; Gorgas, Daniela; Kircher, Patrick R; Boretti, Felicitas S; Ohlerth, Stefanie; Reusch, Claudia E

2010-06-01

A 7-month-old male kitten was presented with chronic constipation and retarded growth. Clinical examination revealed disproportional dwarfism with mild skeletal abnormalities and a palpable thyroid gland. The presumptive diagnosis of congenital hypothyroidism was confirmed by low serum total thyroxine (tT(4)) concentration prior to and after the administration of thyroid stimulation hormone (TSH), increased endogenous TSH concentration and abnormal thyroid scintigraphic scan. The kitten had abnormal liver function tests and decreased insulin-like growth factor 1 (IGF-1) concentration, both of which returned to normal in correspondence with an improvement of the clinical signs after 6 weeks of thyroxine therapy. Congenital hypothyroidism is a rare disease that may present with considerable variation in clinical manifestation. In cases in which clinical signs are ambiguous, disorders such as portosystemic shunt and hyposomatotropism have to be taken into account as differential diagnosis. As hypothyroidism may be associated with abnormal liver function tests and low IGF-1 concentrations, test results have to be interpreted carefully. Copyright 2010 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.

Outcome of ventilated infants born at term without major congenital abnormalities.

PubMed

Ramadan, Ghada; Paul, Nicola; Morton, Margaret; Peacock, Janet L; Greenough, Anne

2012-02-01

The longer-term outcome of term-born infants without congenital anomalies requiring ventilation in the first 24 h after birth has rarely been reported. Our aims were to determine the mortality and long-term morbidity of such infants and identify risk factors for adverse outcome. The outcomes of 43 of 45 infants born at term consecutively requiring mechanical ventilation were reviewed. The infants had: meconium aspiration syndrome (n = 11), hypoxic ischaemic encephalopathy (HIE) (n = 11), respiratory depression (n = 12), sepsis (n = 5), persistent pulmonary hypertension of the newborn (n = 3) and middle cerebral artery infarction (n = 1). Eleven infants developed seizures (26%), 13 (30%) had abnormal electroencephalograms and 11 (26%) had abnormal MRI scans; 26% had an adverse outcome: six died, and five had severe neurodisability at 2 years. The infants with congenital toxoplasmosis and a middle cerebral artery infarction were excluded from the prediction analysis. In the remaining 41 patients, requirement for anticonvulsants (relative risk, RR = 4.44, 95% CI = 1.48 to 12.70; p = 0.014) and prolonged ventilation (longer than 3 days) (RR 4.83, 95% CI 1.51 to 15.64) predicted adverse outcome. Infants with HIE had an increased risk of adverse outcome (relative risk 5.45, 95% CI 1.01 to 33.85), but an adverse outcome occurred in infants with other diagnoses. Mortality and neurodisability at follow-up were common in infants born at term without major congenital anomalies who required mechanical ventilation in the first 24 h after birth, particularly in those who developed seizures requiring treatment and prolonged ventilation.

Paediatric germ cell tumours and congenital abnormalities: a Children's Oncology Group study

PubMed Central

Johnson, K J; Ross, J A; Poynter, J N; Linabery, A M; Robison, L L; Shu, X O

2009-01-01

Methods: Maternally reported congenital abnormalities (CAs) were examined in a case–control study of 278 cases of paediatric germ cell tumours (GCTs) and 423 controls. Results and conclusions Germ cell tumours were significantly associated with cryptorchidism in males (OR=10.8, 95% CI: 2.1–55.1), but not with any other specific CA in either sex. PMID:19603020

Premenarchal, recurrent vaginal discharge associated with an incomplete obstructing longitudinal vaginal septum.

PubMed

Hansen, Keith A; DeWitt, Jason

2005-12-01

To describe an unusual, premenarchal presentation of an obstructive vaginal anomaly. Case Report. University Medical Center. Premenarchal subject Vaginogram, vaginal septum resection. Vaginal septum resection with resolution of vaginal discharge. This case demonstrates some of the typical features of uterus didelphys bicollis with incomplete obstructing hemivagina, but had a unique presentation with premenarchal, recurrent vaginal discharge. Typically, patients with an obstructing mullerian anomaly present after menarche with pelvic pain and a mass. The vaginogram assists in the preoperative definition of abnormal anatomy which allows the surgeon to develop the most appropriate surgical approach. Resection of this incompletely obstructing vaginal septum resulted in resolution of the recurrent vaginal discharge.

Electrocardiogram Screening in Children with Congenital Sensorineural Hearing Loss: Prevalence and Follow-up of Abnormalities.

PubMed

Farzal, Zainab; Walsh, Jonathan; Ahmad, Faisal I; Roberts, Jason; Ferns, Sunita J; Zdanski, Carlton J

2018-03-01

Objective The purpose is to determine the prevalence of electrocardiogram (ECG) abnormalities, including borderline and prolonged QT, among screened children with sensorineural hearing loss (SNHL) and to analyze their subsequent medical workup. Study Design Institutional Review Board-approved case series with chart review. Setting Tertiary academic center. Subjects and Methods Cases from 1996 to 2014 involving pediatric patients (N = 1994) with SNHL were analyzed. Abnormal ECGs were categorized as borderline/prolonged QT or other. A board-certified pediatric cardiologist retrospectively determined the clinical significance of ECG changes. For follow-up analysis, children with heart disease, known syndromes, or inaccessible records were excluded. Results Among 772 children who had ECGs, 215 (27.8%) had abnormal results: 35 (4.5%) with QT abnormalities and 180 (23.3%) with other abnormalities. For children with QT abnormalities meeting inclusion criteria (n = 30), follow-up measures included cardiology referral (46.6%), repeat ECG by ear, nose, and throat (ENT) specialist (20%), clearance by ENT specialist with clinical correlation and/or comparison with old ECGs (20%), and pediatrician follow-up (6.7%). Documentation of further workup by ENT or referral was absent for 6.7%. For children with other ECG changes meeting inclusion criteria (n = 136), abnormalities were documented for 57 (41.9%); normal QT without other abnormality was documented for 18 (13.2%). The most common follow-up referrals were to pediatricians (16.9%) and cardiologists (10.3%). Among patients with clinically significant non-QT abnormalities mandating further evaluation (n = 122), 38 (31.1%) had documented follow-up in medical records. Conclusion There is a high prevalence of ECG abnormalities among children with congenital SNHL. If findings are confirmed by future studies, screening should be considered for congenital unilateral or bilateral SNHL, regardless of severity. We describe a

Maternal risk factors for abnormal vaginal flora during pregnancy.

PubMed

Tibaldi, Cecilia; Cappello, Nazario; Latino, Maria A; Polarolo, Giulia; Masuelli, Giulia; Cavallo, Franco; Benedetto, Chiara

2016-04-01

To determine the prevalence of abnormal vaginal flora during pregnancy and associated maternal risk factors. A retrospective study was undertaken of cervicovaginal smears performed on pregnant women at a center in Turin, Italy, between 2000 and 2010. Patients were divided into three groups: women with symptoms of genital infections (G1), asymptomatic women at risk of preterm birth (G2), and asymptomatic women with no risk (G3). Logistic regression models identified variables associated with microorganisms. Among 11 219 samples, 4913 (43.8%) were positive, of which 3783 (77.0%) were positive for a single microorganism. Multivariate analysis for G1 showed positive associations between multiple sexual partners and bacterial vaginosis/Ureaplasma urealyticum, and multiparity with preterm birth and U. urealyticum (P<0.05 for all). In G2, there were significant associations between multiparity with preterm birth and bacterial vaginosis/aerobic vaginitis, and North African origin and bacterial vaginosis/U. urealyticum (P<0.05 for all). In G3, there were associations between little education (<8 years) and bacterial vaginosis/U. urealyticum, multiple sexual partners and bacterial vaginosis/U. urealyticum, and bacterial vaginosis and Eastern European origin and not being married (P<0.05 for all). Positive cervicovaginal smears were associated with a particular profile. Testing could be advisable for symptomatic women at any stage of pregnancy, during the first trimester for asymptomatic women at risk of preterm birth, and for some asymptomatic women. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Can we improve the prevention and detection of congenital abnormalities? An audit of early pregnancy care in New Zealand.

PubMed

Arroll, Nicola; Sadler, Lynn; Stone, Peter; Masson, Vicki; Farquhar, Cindy

2013-08-16

To determine whether there were "quality gaps" in the provision of care during pregnancies that resulted in a perinatal death due to congenital abnormality. Perinatal deaths from congenital cardiovascular, central nervous system or chromosomal abnormality in 2010 were identified retrospectively. Data were extracted by retrospective clinical note review and obtained by independent review of ultrasound scans. There were 137 perinatal deaths due to a congenital cardiovascular (35), central nervous system (29) or chromosomal abnormality (73). First contact with a health professional during pregnancy was predominantly with a general practitioner. First contact occurred within 14 weeks in 85% of pregnancies and there was often a significant delay before booking. Folate supplements were taken by 7% pre-conceptually and 54% of women in the antenatal period. There were 20 perinatal deaths from neural tube defects that could potentially have been prevented through the use of pre-conceptual folate. Antenatal screening was offered to 75% of the women who presented prior to 20 weeks and 84% of these undertook at least one of the available antenatal screening tests. Review of ultrasound images found five abnormalities could have been detected earlier. Delay in booking or failure to offer screening early were the most common reasons for delay in diagnosis of screen detectable abnormalities. The preventative value and timing of (pre-conceptual) folate needs emphasis.

Abnormal vaginal flora in symptomatic non-pregnant and pregnant women in a Greek hospital: a prospective study.

PubMed

Tansarli, G S; Skalidis, T; Legakis, N J; Falagas, M E

2017-02-01

Bacterial vaginosis (BV), candidiasis, and trichomoniasis were the three established types of vaginal conditions until aerobic vaginitis (AV) was defined in the early 2000s. We sought to study the prevalence of abnormal vaginal flora (AVF) with inflammation in our hospital and to correlate it with AV. We prospectively collected vaginal smear specimens originated from symptomatic women who were examined at Iaso Obstetrics, Gynecology and Children's Hospital of Athens from April 2014 until September 2015. Amsel's criteria were used for the diagnosis of BV. The presence of leukocytes and lactobacillary grade were evaluated to classify a condition as AVF with inflammation; subsequently, bacterial cultures were performed. A total of 761 women were included. Five hundred and seventy-nine women were diagnosed with candidiasis, BV, trichomoniasis, or other types of vaginitis in which no pathogenic bacterial growth occurred in cultures. One hundred and eighty-two women (23.9 %) were diagnosed with AVF with inflammation (116 non-pregnant, 66 pregnant). Escherichia coli was the most common pathogen among these women (non-pregnant: 45.7 %, pregnant: 34.8 %). Other common pathogens were Group-B-Streptococcus (non-pregnant: 20.7 %, pregnant: 22.7 % respectively), Enterococcus faecalis (14.7 %, 18.2 %), and Klebsiella pneumoniae (6.9 %, 12.1 %). The prevalence of AVF with inflammation may be high. Since inflammation criteria were applied, most cases of BV were eliminated and the majority of cases of AVF are AV. Therefore, clinicians should include AV in the differential diagnosis of vaginitis, while microbiologists should take into account the growth of aerobic bacteria in vaginal cultures originating from women with microscopic findings of AV.

[Neonatal tumours and congenital malformations].

PubMed

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT: OVERVIEW, MOLECULAR MECHANISMS, AND FURTHER EVIDENCE OF HETEROGENEITY AND COMPLEXITY OF SYNDROMES WITH CONGENITAL LIMITATION OF EYE MOVEMENTS

PubMed Central

Traboulsi, Elias I

2004-01-01

ABSTRACT Purpose The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Methods Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. Results The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23–q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. Conclusions There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei. PMID:15747768

Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

PubMed

Dittmer, K E; Thompson, K G

2015-09-01

Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. © The Author(s) 2015.

[Transverse vaginal septum in the upper part of the vagina and pregnancy].

PubMed

Bautista Gómez, Esperanza; Morales-García, Victor; Flores-Romero, Ana Luisa; Pizarro Osorno, Noel; Velásquez-Valdivia, Abner

2012-07-01

Transverse vaginal septum is a congenital Mullerian malformation resulting from a failure of the fusion or canalization of the urogenital sinus and the Müllerian ducts. It may cause hematocolpos, dyspareunia and infertility in adult patients. In some cases, it is associated with congenital malformations such as coarctation of the aorta or atrial septal defects. A case of a transverse vaginal septum identified during a vaginal check-up of a 39-week pregnant patient during labour is reported. A cesarean surgery was performed with no complications. Septal defect was diagnosed due to heart murmur. It was decided to treat the transverse vaginal septum as soon as the puerperium was over. The patient left the hospital after proper response to treatment.

The problem of vaginismus with congenital malformation of the genital tract.

PubMed

Jarząbek-Bielecka, Grażyna; Pisarska-Krawczyk, Magdalena; Kędzia, Witold; Mizgier, Małgorzata; Friebe, Zbigniew

2016-05-31

The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman's expressed wish to do so" is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse), religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian) ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is an important problem in these fields.

Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: clefts, aneurysms, diverticula and terminology problems.

PubMed

Erol, Cengiz; Koplay, Mustafa; Olcay, Ayhan; Kivrak, Ali Sami; Ozbek, Seda; Seker, Mehmet; Paksoy, Yahya

2012-11-01

Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P=0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal-apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins.

PubMed

Sperling, L; Kiil, C; Larsen, L U; Brocks, V; Wojdemann, K R; Qvist, I; Schwartz, M; Jørgensen, C; Espersen, G; Skajaa, K; Bang, J; Tabor, A

2007-05-01

To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. Enrolled into this prospective multicenter observational study were women with twin pregnancies diagnosed before 14 + 6 gestational weeks. The monochorionic pregnancies were scanned every second week until 23 weeks in order to rule out early TTTS. All pregnancies had an anomaly scan in week 19 and fetal echocardiography in week 21 that was performed by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS. Ultrasound screening to assess chorionicity and follow-up of monochorionic pregnancies to detect signs of TTTS, as well as malformation screening, are therefore essential in the antenatal care of twin pregnancies. Copyright (c) 2007 ISUOG.

Ocular abnormalities in congenital Zika syndrome: are the ophthalmoscopic findings "the top of the iceberg"?

PubMed

de Oliveira Dias, João Rafael; Ventura, Camila V; de Paula Freitas, Bruno; Prazeres, Juliana; Ventura, Liana O; Bravo-Filho, Vasco; Aleman, Tomas; Ko, Albert Icksang; Zin, Andréa; Belfort, Rubens; Maia, Mauricio

2018-04-23

Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV. Until 2015, ZIKV infection was thought to only cause asymptomatic or mild exanthematous febrile infections. However, after explosive ZIKV outbreaks in Polynesia and Latin American countries, it was confirmed that ZIKV could also lead to Guillain-Barré syndrome and congenital birth abnormalities. These abnormalities, which can include neurologic, ophthalmologic, audiologic, and skeletal findings, are now considered congenital Zika syndrome (CZS). Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, hypoplasia of the cerebellum and brainstem. The ocular findings, which are present in up to 70% of infants with CZS, include iris coloboma, lens subluxation, cataract, congenital glaucoma, and especially posterior segment findings. Loss of retinal pigment epithelium, the presence of a thin choroid, a perivascular choroidal inflammatory infiltrate, and atrophic changes within the optic nerve were seen in histologic analyses of eyes from deceased fetuses. To date, there is no ZIKV licensed vaccines or antiviral therapies are available for treatment. Preventive measures include individual protection from mosquito bites, control of mosquito populations and the use of barriers measures such as condoms during sexual intercourse or sexual abstinence for couples either at risk or after confirmed infection. A literature review based on studies that

Vaginal flora alterations and clinical symptoms in low-risk pregnant women.

PubMed

Gondo, Fausto; da Silva, Márcia G; Polettini, Jossimara; Tristao, Andréa da R; Peracoli, José C; Witkin, Steven S; Rudge, Marilza V C

2011-01-01

To evaluate associations between alterations in vaginal flora and clinical symptoms in low-risk pregnant women. Vaginal specimens from 245 pregnant women were analyzed by microscopy for vaginal flora. Signs and symptoms of vaginal infection were determined by patient interviews and gynecologic examinations. Abnormal vaginal flora was identified in 45.7% of the subjects. The final clinical diagnoses were bacterial vaginosis (21.6%), vaginal candidosis (10.2%), intermediate vaginal flora (5.2%), aerobic vaginitis (2.9%), mixed flora (2.9%) and other abnormal findings (2.9%). The percentage of women with or without clinical signs or symptoms was not significantly different between these categories. The presence of vaginal odor or vaginal discharge characteristics was not diagnostic of any specific flora alteration; pruritus was highly associated with candidosis (p < 0.0001). Compared to women with normal flora, pruritus was more prevalent in women with candidosis (p < 0.0001), while vaginal odor was associated with bacterial vaginosis (p = 0.0026). The prevalence of atypical vaginal flora is common in our low-risk pregnant population and is not always associated with pathology. The occurrence of specific signs or symptoms does not always discriminate between women with different types of atypical vaginal flora or between those with abnormal and normal vaginal flora. Copyright © 2010 S. Karger AG, Basel.

Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

PubMed

Tan, Xue; Aoki, Aya; Yanagi, Yasuo

2013-01-01

Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

Split thickness skin graft for cervicovaginal reconstruction in congenital atresia of cervix.

PubMed

Zhang, Xuyin; Han, Tiantian; Ding, Jingxin; Hua, Keqin

2015-10-01

To introduce a new technique that combines laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of the cervix. Video article introducing a new surgical technique. University hospital. A 16-year-old patient with congenital cervical atresia, vaginal dysgenesis, and ovarian endometrial cyst. An original technique of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft for cervicovaginal reconstruction. A midline incision at the vaginal introitus was made, and a 9-cm canal was made between the bladder and the rectum using sharp and blunt dissection along the anatomic vaginal route, with the aid of laparoscopy to ensure correct orientation. A 14 × 12 cm split thickness skin graft was harvested from the right lateral thigh. By laparoscopy, the level of the lowest pole of the uterine cavity was exposed and the cervix was incised by shape dissection. The proximal segment of the harvested skin to the lower uterine segment was secured, and the distal segment was sutured with the upper margin of vulva vaginally. Surgical technique reports in anonymous patients are exempted from ethical approval by the Institutional Review Board. The patient gave consent to use the video in the article. The procedure was successfully completed. Since February 2013, our experiences of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in 10 patients with congenital atresia of cervix were positive, with successful results and without complications or cervical, or vaginal stenosis. Our technique is feasible and safe for congenital atresia of cervix, with successful results and without complications or cervical or vaginal stenosis. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Rescreening for abnormal vaginal flora in pregnancy and re-treating with clindamycin vaginal cream significantly increases cure and improvement rates.

PubMed

Lamont, R F; Taylor-Robinson, D; Bassett, P

2012-08-01

We investigated 199 pregnant women with bacterial vaginosis (BV) who received clindamycin vaginal cream (CVC) for three days and compared with 205 women treated with placebo. The vaginal flora was assessed at each visit. At the second visit, 71% in the CVC group were cured/improved, compared with 12% in the placebo group (P < 0.001). At visit 3 about 90% who responded to initial CVC treatment were still cured/improved. Of women who initially failed to respond to CVC and were given an additional seven-day course, 33% were cured/improved by the third visit, compared with 15% who failed to respond to placebo initially and were given a further seven-day course (P = 0.02). By visit 4, half the women in the CVC group who received additional treatment remained cured/improved, compared with 26% who had additional placebo (P = 0.004). In the CVC group, a change from abnormal to normal rose from 71% (visit 2) to 76% (visit 3) and 79% (visit 4). A similar trend was seen in women who received placebo but the proportions were significantly lower (12%, 24% and 33%, respectively). There is value in rescreening and re-treating women who remain BV-positive after initial clindamycin treatment.

Congenital Abnormalities and Acute Leukemia among Children with Down Syndrome: A Children’s Oncology Group Study

PubMed Central

Linabery, Amy M.; Blair, Cindy K.; Gamis, Alan S.; Olshan, Andrew F.; Heerema, Nyla A.; Ross, Julie A.

2008-01-01

Children with Down syndrome, due to their heightened risk of leukemia and increased prevalence of congenital abnormalities, comprise a valuable population in which to study etiology. A Children’s Oncology Group study investigated the causes of childhood leukemia in children with Down syndrome diagnosed at ages 0 to 19 years during the period 1997–2002. Telephone interviews were completed with mothers of 158 cases [n = 97 acute lymphoblastic leukemia (ALL) and n = 61 acute myeloid leukemia (AML)] and 173 controls. Odds ratios (OR) and 95% confidence intervals (95% CI) were computed via unconditional logistic regression to evaluate the association between congenital abnormalities and acute leukemia overall, and ALL and AML analyzed separately. The results do not provide evidence for an association among the index children (ORCombined, 0.74; 95% CI, 0.45–1.23; ORALL, 0.67; 95% CI, 0.38–1.20; ORAML,1.03; 95% CI, 0.49–2.16) or their siblings (ORCombined, 1.23; 95% CI, 0.71–2.13; ORALL, 1.12; 95% CI, 0.60–2.09; ORAML, 1.60; 95% CI, 0.66–3.86), suggesting congenital malformations do not confer additional risk of leukemia beyond the risk attributable to trisomy 21 in this population. PMID:18829445

Vaginal bleeding

MedlinePlus

... who are approaching menopause. Women who take oral contraceptives may experience episodes of abnormal vaginal bleeding. Often ... Practice Bulletin No. 110: noncontraceptive uses of hormonal contraceptives. Obstet Gynecol . 2010;115(1):206-218. PMID: ...

Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

PubMed

Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

2011-09-01

To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review.

PubMed

Krauer, Fabienne; Riesen, Maurane; Reveiz, Ludovic; Oladapo, Olufemi T; Martínez-Vega, Ruth; Porgo, Teegwendé V; Haefliger, Anina; Broutet, Nathalie J; Low, Nicola

2017-01-01

The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose-response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose-response relationship and specificity), we found that more than half the relevant studies supported a causal

Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain–Barré Syndrome: Systematic Review

PubMed Central

Reveiz, Ludovic; Oladapo, Olufemi T.; Martínez-Vega, Ruth; Haefliger, Anina

2017-01-01

Background The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain–Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. Methods and Findings The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose–response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose–response relationship and specificity), we found that more than half the

Congenital Abnormalities and Hepatoblastoma: A Report from the Children’s Oncology Group (COG) and the Utah Population Database (UPDB)

PubMed Central

Venkatramani, Rajkumar; Spector, Logan G.; Georgieff, Michael; Tomlinson, Gail; Krailo, Mark; Malogolowkin, Marcio; Kohlmann, Wendy; Curtin, Karen; Fonstad, Rachel K.; Schiffman, Joshua D.

2014-01-01

Beckwith-Wiedemann Syndrome (BWS) and Familial Adenomatous Polyposis (FAP) are known to predispose to hepatoblastoma (HB). A case control study was conducted through the Children’s Oncology Group (COG) to study the association of HB with isolated congenital abnormalities. Cases (N = 383) were diagnosed between 2000 and 2008. Controls (N = 387) were recruited from state birth registries, frequency matched for sex, region, year of birth, and birth weight. Data on congenital abnormalities among subjects and covariates were obtained by maternal telephone interview. Odds ratios (OR) and 95% confidence intervals (CI) describing the association between congenital abnormalities with HB, adjusted for sex, birth weight, maternal age and maternal education, were calculated using unconditional logistic regression. There was a significant association of HB with kidney, bladder, or sex organ abnormalities (OR = 4.75; 95% CI: 1.74–13) which appeared to be specific to kidney/bladder defects (OR = 4.3; 95% CI: 1.2–15.3) but not those of sex organs (OR = 1.24; 95% CI: 0.37–4.1). Elevated but non-significant ORs were found for spina bifida or other spinal defects (OR = 2.12; 95% CI: 0.39–11.7), large or multiple birthmarks (OR = 1.33; 95% CI: 0.81–2.21). The results were validated through the Utah Population Database (UPDB), a statewide population-based registry linking birth certificates, medical records, and cancer diagnoses. In the UPDB, there were 29 cases and 290 population controls matched 10:1 on sex and birth year. Consistent with the COG findings, kidney/bladder defects were associated with hepatoblastoma. These results confirm the association of HB with kidney/bladder abnormalities. PMID:24934283

The efficacy of vaginal clindamycin for the treatment of abnormal genital tract flora in pregnancy.

PubMed

Lamont, Ronald F; Jones, Brian M; Mandal, Debashis; Hay, Philip E; Sheehan, Marie

2003-01-01

To assess the efficacy of 2% clindamycin vaginal cream (CVC) to treat bacterial vaginosis (BV) in pregnancy. A prospective, randomized, double-blind, placebo-controlled, tricenter study. Four hundred and four women with BV on Gram stain at their first antenatal clinic visit were randomized to receive a 3-day course of 2% CVC or placebo. The outcome was assessed using an intention to treat analysis at 3 weeks and 6 weeks post-treatment according to three different diagnostic methods based on five criteria (Gram stain and all four elements of clinical composite criteria: vaginal discharge, abnormal vaginal pH, clue cells, amine odor), three criteria (vaginal pH, clue cells, amine odor) or two criteria (clue cells and amine odor) to reflect stringency of diagnosis, historical precedence and government agency recommendations respectively. Using five diagnostic criteria, 18% of CVC patients were cured and 70.8% either cured and/or improved compared to 1.6% and 12% of placebo patients respectively (p < 0.0001). Using three diagnostic criteria, 44.8% of CVC patients were cured and 77.3% were either cured and/or improved compared to 9.3% and 28.8% of placebo patients respectively (p < 0.000 1). Using two diagnostic criteria, 75.0% of CVC patients were cured compared to 18.0% of placebo patients (p < 0.0001 ). Recurrence rates in those CVC patients successfully treated were approximately 6% at 6 weeks post baseline and 10% at 28 to 34 weeks gestation. A 3-day course of CVC appears to be well tolerated by the mother and statistically significantly more efficacious than placebo in the treatment of BV during the second trimester of pregnancy.

[Vaginal adenosis: A case report and literature review].

PubMed

Harimenshi, Jean-Marie; Jean-Jacques, Bastien; Michels, Jean-Jacques

2016-08-01

We report a case of vaginal adenosis in a woman of 42years. This is a rare congenital disorder since cessation of use of diethylstilbestrol (DES), usually of benign course, not to ignore in its tubo-endometrial histological form which may progress to atypical adenosis precursor of vaginal clear cell adenocarcinoma in patients exposed in utero to DES. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome.

PubMed

Patel, Angira; Hickey, Edward; Mavroudis, Constantine; Jacobs, Jeffrey P; Jacobs, Marshall L; Backer, Carl L; Gevitz, Melanie; Mavroudis, Constantine D

2010-06-01

Hypoplastic left heart syndrome may coexist with noncardiac congenital defects or genetic syndromes. We explored the impact of such lesions on outcomes after staged univentricular palliation. Society of Thoracic Surgeons database 2002 to 2006: Children diagnosed with hypoplastic left heart syndrome who underwent stage 1 Norwood (n = 1,236), stage 2 superior cavopulmonary anastamosis (n = 702) or stage 3 Fontan (n = 553) procedures were studied. In-hospital mortality, postoperative complications, and length of stay were compared at each stage between those with and without noncardiac-genetic defects. Congenital Heart Surgeons' Society database 1994 to 2001: All 703 infants enrolled in the Congenital Heart Surgeons' Society critical left ventricular outflow tract obstruction study who underwent primary stage 1 palliation were reviewed. The impact of noncardiac defects-syndromes on survival was explored using multivariable parametric models with bootstrap bagging. Society of Thoracic Surgeons database: Stage 1 in-hospital mortality (26% vs 20%, p = 0.04) and mean postoperative length of stay (42 versus 31 days, p < 0.0001) were greater, and postoperative complications significantly more prevalent in infants with noncardiac-genetic defects. Congenital Heart Surgeons' Society database: Noncardiac-genetic defects were present in 55 (8%). Early hazard for death after Norwood was significantly worse in infants with noncardiac defects-syndromes (p = 0.008). Chromosomal defects (n = 14) were highly unfavorable: the early risk of death was doubled (10-year survival 25 +/- 9% vs 54 +/- 2%, p = 0.005). Turner syndrome accounted for the majority of chromosomal defects in this population (11 of 14, 79%). Mode of death was rarely attributable to the noncardiac-genetic defect. Survival in hypoplastic left heart syndrome is strongly influenced by the presence of noncardiac abnormalities. Strategies to improve mortality in infants with noncardiac abnormalities should be explored

Chromosome abnormalities and the genetics of congenital corneal opacification.

PubMed

Mataftsi, A; Islam, L; Kelberman, D; Sowden, J C; Nischal, K K

2011-01-01

Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.

Pinna abnormalities and low-set ears

MedlinePlus

... Pinna abnormalities; Genetic defect - pinna; Congenital defect - pinna Images Ear abnormalities Pinna of the newborn ear References Haddad J, Keesecker S. Congenital malformations. In: Kliegman RM, Stanton BF, ...

Clinical and microbiological correlates of vaginal trichomoniasis during pregnancy. The Vaginal Infections and Prematurity Study Group.

PubMed

Pastorek, J G; Cotch, M F; Martin, D H; Eschenbach, D A

1996-11-01

Colonization with Trichomonas vaginalis is a possible cause of poor pregnancy outcome. To facilitate the diagnosis of this condition during pregnancy, we conducted a prospective, multicenter study of 13,816 gravid women who were between 23rd and 26th week of gestation. Findings significantly associated with T. vaginalis colonization included a yellow, green, or bloody discharge from the vagina or cervix; abnormal odor after KOH was added to a vaginal specimen; a vaginal pH of > 5.0; and cervical friability. The amount of vaginal discharge and abnormal consistency of the discharge were also associated with T. vaginalis colonization. These findings (except for cervical bleeding and odor after the addition of KOH to a vaginal specimen, which may be influenced by the presence of other flora) are consistent with those reported elsewhere. The clinical usefulness of these features is minimal, and it is more significant that other microorganisms are makers for trichomoniasis; therefore, controlling for other flora is important in the investigation of T. vaginalis colonization.

Zika Virus (ZIKV): a review of proposed mechanisms of transmission and associated congenital abnormalities

PubMed Central

Desai, Sruti K; Hartman, Steven D; Jayarajan, Shilpa; Liu, Stephanie; Gallicano, G Ian

2017-01-01

Zika virus (ZIKV) has been of major international public health concern following large outbreaks in the Americas occurring in 2015-2016. Most notably, ZIKV has been seen to pose dangers in pregnancy due to its association with congenital abnormalities such as microcephaly. Numerous experimental approaches have been taken to address how the virus can cross the placenta, alter normal fetal development, and disrupt specific cellular functions. Many areas concerning the mechanisms of transmission, especially from mother to fetus, are largely unknown but demand further research. Several promising new studies are presented that provide insight into possible mechanisms of transmission, different cell types affected, and immune responses towards the virus. By aiming to better understand the processes behind altered fetal neuronal development due to ZIKV infection, the hope is to find ways to increase protection of the fetus and prevent congenital abnormalities such as microcephaly. As ZIKV infection is spreading to increasingly more areas and bringing harmful outcomes and birth defects with it, it is imperative to identify the mechanisms of transmitting this infectious agent, consider different genetic backgrounds of hosts and strain types, and navigate methods to protect those affected from the detrimental effects of this newly emerging virus. PMID:28804687

Lack of Association of ST-T Wave Abnormalities to Congenital Heart Disease in Neonates.

PubMed

Gorla, Sudheer R; Hsu, Daphne T; Kulkarni, Aparna

2016-09-01

ST-T wave (STTW) abnormalities have been described in 20-40% of normal newborns. We sought to describe the associations of these Electrocardiogram (ECG) abnormalities to perinatal course and congenital heart disease (CHD). A retrospective chart review was performed on all neonatal ECGs between January 2008 and March 2013 identified from electronic medical records. Electronic medical records were reviewed for perinatal course and maternal medical conditions. Neonates <37 weeks gestation, >3 days age, requiring hemodynamic support in the first 3 days, with oxygen saturation <90% on room air, or with arrhythmias and significant abnormalities of axis and voltage were excluded from the analysis. ST segment elevation or depression of >2 mm in at least one lead and flat or inverted T waves in at least one lead except aVR were considered abnormal. Statistical relationships were explored between STTW abnormalities, perinatal variables and CHD. ECGs were performed on 1043 neonates, of which 664 were included. STTW abnormalities were found in 236 (35.5%) neonates. T wave abnormalities were identified in 191 (28.7%), ST segment abnormalities in 77 (11.6%) and both on 32 (4.8%) neonates. No relationship was found between the ECG abnormalities and perinatal variables, except maternal cefazolin administration during labor. Noncritical CHD was diagnosed by echocardiography in 59/84; STTW abnormalities were seen in 17/59 (29%) patients with and 9/25 (34%) without noncritical CHD, P = .6. STTW abnormalities on ECG are commonly found in 35.5% of normal neonates and do not predict noncritical CHD. © 2016 Wiley Periodicals, Inc.

Infant leukemia and congenital abnormalities: A Children’s Oncology Group study

PubMed Central

Johnson, Kimberly J.; Roesler, Michelle A.; Linabery, Amy M.; Hilden, Joanne M.; Davies, Stella M.; Ross, Julie A.

2010-01-01

Background Leukemia in infants is rare and has not been well-studied apart from leukemia in older children. Differences in survival and the molecular characteristics of leukemia in infants vs. older children suggest a distinct etiology, likely involving prenatal factors. Procedure We examined the association between eight categories of maternally-reported congenital abnormalities (CAs) (cleft lip or palate, spina bifida or other spinal defect, large or multiple birthmarks, other chromosomal abnormalities, small head or microcephaly, rib abnormalities, urogenital abnormalities, and other) and infant leukemia in a case-control study. The study included 443 cases diagnosed at <1 year of age at a Children’s Oncology Group institution in the United States or Canada from 1996-2006 and 324 controls. Controls were recruited from the cases’ geographic area either by random digit dialing (1999-2002) or through birth certificates (2003-2008) and were frequency-matched to cases on birth year. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression after adjustment for birth year and a measure of follow-up time to account for differences in the CA observation period. Results No statistically significant associations were observed between infant leukemia and any CA (OR=1.2; 95% CI 0.8-1.9), birthmarks (OR=1.4, 95% CI 0.7-2.5), urogenital abnormalities (OR=0.7; 95% CI 0.2-2.0), or other CA (OR=1.4; 95% CI 0.7-2.8). Results were similar for acute lymphoblastic and myeloid leukemia cases. Fewer than five subjects were in the remaining CA categories precluding analysis. Conclusions Overall, we did not find evidence to support an association between CAs and infant leukemia. PMID:20486175

Improvement of abnormal vaginal flora in Ugandan women by self-testing and short use of intravaginal antimicrobials.

PubMed

Donders, G; Bellen, G; Donders, F; Pinget, J; Vandevelde, I; Michiels, T; Byamughisa, J

2017-04-01

The vaginal composition of African women is more often lactobacillus-deficient compared to that of women from other areas around the world. Lactobacillus-deficient microflora is a known risk factor for serious health problems, such as preterm birth, cervix cancer, and entrapment of human immunodeficiency virus (HIV) and other sexually transmitted infections (STIs). The aim of this study was to assess the effect of local vaginal antibiotic or antiseptic treatment on abnormal vaginal flora (AVF), aerobic vaginitis (AV), and bacterial vaginosis (BV) among women in rural, semi-urban, and urban areas in Uganda, as compared to placebo. In a double-blind, placebo-controlled, randomized trial, 300 women presenting for outpatient routine, follow-up, or medical care at Mulago Hospital in Kampala, Uganda, were enrolled to receive 6 days of treatment with vaginal rifaximin (RFX), dequalinium chloride (DQC), or placebo if they had an increased vaginal pH of >4.5 as determined by self-testing. At initial visit and at control visit after 4 weeks, a smear was taken for blinded wet mount microscopy to determine AVF, BV, AV, and Candida severity scores. As compared to placebo, both RFX or DQC treatments dramatically diminished BV prevalence and severity from the initial to follow-up visit: the BV score declined from 2.5 to 1.6 (p < 0.0001) and from 2.5 to 1.9 (p < 0.0001), respectively. Similarly, strong improvements in the AV score were seen in both treatment regimens: moderate and severe AV declined from AV scores of 6.3 to 3.6 (p = 0.003) and from 6.6 to 4.1 (p < 0.004), respectively. Also, women with AVF (deceased or absent lactobacilli) showed similar improvements when compared with placebo. Women with normal flora and Candida at the initial visit showed less Candida after 4 weeks in the group treated with DQC (p = 0.014). Even after a short duration of intravaginal treatment with local non-absorbable antiseptics or antibiotics produced significant

Vaginal Bleeding: MedlinePlus Health Topic

MedlinePlus

... Bleeding (American Academy of Family Physicians) Also in Spanish Abnormal Uterine Bleeding (Beyond the Basics) (UpToDate) Abnormal ... College of Obstetricians and Gynecologists) - PDF Also in Spanish Vaginal Bleeding (Mayo Foundation for Medical Education and ...

Abnormal vessel of the ear associated with congenital arteriovenous malformation in the postauricular region.

PubMed

Dixit, Shilpi Gupta; Dixit, Rakesh

2013-08-01

Variations in the branching pattern of the common, external, and internal carotid arteries can present as arteriovenous malformations, and their basis can be explained embryologically. Our case was a rare variation presenting as a congenital, very gradually increasing bluish painless swelling at the region of the left lobule of the ear arising from an abnormal vessel (from the postauricular artery) which was explored under general anesthesia through a postauricular curved incision. The abnormal vessel and other feeding vessels were ligated and a sclerosing agent injected. Anomalies of pharyngeal arch arteries like our case can be found resulting from the persistence of channels that normally disappear, and prior knowledge of these anomalies is essential before surgeries like mastoidectomy to prevent alarming hemorrhage.

Chromosome abnormalities and the genetics of congenital corneal opacification

PubMed Central

Mataftsi, A.; Islam, L.; Kelberman, D.; Sowden, J.C.

2011-01-01

Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed. PMID:21738392

Congenital abnormalities in Liberian neonates.

PubMed

Njoh, J; Chellaram, R; Ramas, L

1991-01-01

A seven-and-half-month study of single observations for congenital malformations on 2228 Liberian neonates at the St. Joseph's Catholic Hospital is presented. An overall incidence of 22.4 per 1000 was recorded in this study.

Prevalence of vaginal microorganisms among pregnant women according to trimester and association with preterm birth

PubMed Central

Son, Kyung-A; Kim, Minji; Kim, Yoo Min; Kim, Soo Hyun; Choi, Suk-Joo; Roh, Cheong-Rae; Kim, Jong-Hwa

2018-01-01

Objective The aim of this study was to investigate the prevalence of abnormal vaginal microorganisms in pregnant women according to trimester, and to determine whether the presence of abnormal vaginal colonization is associated with higher risk of miscarriage or preterm delivery. Furthermore, we analyzed delivery outcomes according to individual microorganism species. Methods We included pregnant women who underwent vaginal culture during routine prenatal check-up between January 2011 and June 2016. We compared delivery outcomes according to the presence or absence of abnormal vaginal flora grouped by trimester. Results This study included 593 singleton pregnancies. We classified participants into 3 groups, according to the trimester in which vaginal culture was performed; 1st trimester (n=221), 2nd trimester (n=138), and 3rd trimester (n=234). Abnormal vaginal colonization rate significantly decreased with advancing trimester of pregnancy (21.7% for 1st, 21.0% for 2nd, 14.5% for 3rd; P=0.048). Abnormal vaginal colonization detected in the 2nd trimester but not in 1st trimester was associated with a significant increase in preterm delivery before 28 weeks of gestation (6.9% vs. 0%; P=0.006). Among abnormal vaginal flora isolated in the 2nd trimester, the presence of Klebsiella pneumonia was identified as significant microorganism associated with preterm delivery before 28 weeks of gestation (50% vs. 0.7% for K. pneumonia; P=0.029). Conclusion There is an association between abnormal vaginal colonization detected in the 2nd trimester and preterm delivery before 28 weeks. K. pneumonia has been identified as the likely causative microorganisms. PMID:29372148

Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey.

PubMed

Adibi, Atoosa; Haghighi, Mahshid; Hosseini, Seyed Reza; Hashemipour, Mahin; Amini, Massoud; Hovsepian, Silva

2008-01-01

Congenital hypothyroidism (CH) is caused by thyroid dysgenesis and dyshormonogenesis. Evidence suggests the presence of genetic factors in both types of pathogenesis. We investigated whether an increased incidence of thyroid abnormalities could be shown by ultrasonography among first-degree relatives of children with CH. In this case-control study the presence of both developmental and non-developmental thyroid abnormalities was studied among first-degree relatives of CH patients and healthy children. Assessments included neck ultrasonography and thyroid function tests. The data obtained from parents, siblings and children were compared in the case and control groups. In the case group, 92 patients, 172 parents and 57 siblings, and in the control group, 82 healthy children, 160 parents and 39 siblings were studied. Thyroid developmental abnormalities were more prevalent among parents (3.5 vs. 0%, p = 0.03) and siblings (10.5 vs. 0, p = 0.01) of CH patients than the control group. Non-developmental abnormalities were not significantly different between the case and control groups (17 vs. 13%, p = 0.3). Thyroid developmental abnormalities were more prevalent among parents and siblings of CH patients than the control group, confirming the familial component of this entity. Copyright 2008 S. Karger AG, Basel.

Utility of three-dimensional and multiplanar reformatted computed tomography for evaluation of pediatric congenital spine abnormalities.

PubMed

Newton, Peter O; Hahn, Gregory W; Fricka, Kevin B; Wenger, Dennis R

2002-04-15

A retrospective radiographic review of 31 patients with congenital spine abnormalities who underwent conventional radiography and advanced imaging studies was conducted. To analyze the utility of three-dimensional computed tomography with multiplanar reformatted images for congenital spine anomalies, as compared with plain radiographs and axial two-dimensional computed tomography imaging. Conventional radiographic imaging for congenital spine disorders often are difficult to interpret because of the patient's small size, the complexity of the disorder, a deformity not in the plane of the radiographs, superimposed structures, and difficulty in forming a mental three-dimensional image. Multiplanar reformatted and three-dimensional computed tomographic imaging offers many potential advantages for defining congenital spine anomalies including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. The imaging studies of patients who had undergone a three-dimensional computed tomography for congenital deformities of the spine between 1992 and 1998 were reviewed (31 cases). All plain radiographs and axial two-dimensional computed tomography images performed before the three-dimensional computed tomography were reviewed and the findings documented. This was repeated for the three-dimensional reconstructions and, when available, the multiplanar reformatted images (15 cases). In each case, the utility of the advanced imaging was graded as one of the following: Grade A (substantial new information obtained), Grade B (confirmatory with improved visualization and understanding of the deformity), and Grade C (no added useful information obtained). In 17 of 31 cases, the multiplanar reformatted and three-dimensional images allowed identification of unrecognized malformations. In nine additional cases, the advanced imaging was helpful in better visualizing and understanding previously identified deformities. In five cases, no new

Factors related to elevated vaginal pH in the first trimester of pregnancy.

PubMed

Zodzika, Jana; Rezeberga, Dace; Jermakova, Irina; Vasina, Olga; Vedmedovska, Natalija; Donders, Gilbert

2011-01-01

To assess different bacterial and epidemiological factors associations with increased vaginal pH in the pregnant women population during the first trimester. A cross-sectional, observational study. Three outpatient clinics in Riga. From July 2009 until January 2010, 139 unselected consecutive pregnant women at the first prenatal visit. Pregnant women were submitted to an interview, vaginal examination and vaginal specimen collection for pH measurement and native microscopy. Vaginal pH ≥4.5 was considered as elevated. Abnormal bacterial microflora was classified according to Donders. Elevated vaginal pH was significantly associated with bacterial vaginosis (p < 0.001), aerobic vaginitis (p < 0.001) and mixed aerobic vaginitis and bacterial vaginosis flora (p < 0.001) and presence of sperm cells in the smears (p= 0.024). Most cases with sperm were associated with abnormal vaginal flora. Normal lactobacillary morphotypes were more often found in the pH ≤4.4 group (p < 0.001), while leptosomic and short types were found more frequently with increased pH. Elevated vaginal pH is associated with different types of abnormal vaginal flora and the presence of sperm cells. © 2010 The Authors Acta Obstetricia et Gynecologica Scandinavica© 2010 Nordic Federation of Societies of Obstetrics and Gynecology.

Congenital Defects.

ERIC Educational Resources Information Center

Goldman, Allen S.; And Others

There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

[Microecological investigation of vaginal microflora in women with varying degree gynecologic symptoms in clinics].

PubMed

Xiao, Bing-bing; Liu, Zhao-hui; Liao, Qin-ping

2009-01-01

To investigate the microecological status of vaginal microflora in the women with different vaginal symptoms. From March 2006 to October 2007, 6982 cases with varying degree vaginal symptoms including pruritus, increaseed leucorrhea, the leucorrhea having unusual smell, in the gynecology outpatient department were studied. The vagina secretions were examined in terms of the pH value, the hydrogen peroxide test, and Gram dyeing inspection of vaginal bacteria and microecology appraisal for colony's density, the multiplicity, the superiority fungus, and the inflammatory response. Among 6982 patients, normal vaginal microecology was identified in 750 (10.74%, 750/6982); abnormal microecology was found in 6232 (89.26%, 6232/6982); bacterial vaginosis (BV) was detected in 729 (10.44%, 729/6982); vulvovaginal candidiasis (VVC) was in 1527 (21.87%, 1527/6982). Ninety five patients (1.36%, 95/6982) were with both BV and VVC. Abnormal bacteria colonies were found in 1229 (17.60%, 1229/6982), and others were found in 2652 (37.98%, 2652/6982). The vaginal microecology in the women with different vaginal symptoms can be either normal or abnormal. Microecology clinical evaluation system can assess the vaginal microecosystem.

Two-staged Correction of Severe Congenital Scoliosis Associated With Intraspinal Abnormalities.

PubMed

Zhang, Zhenxing; Hui, Hua; Liu, Tuanjiang; Zhang, Zhenping; Hao, Dingjun

2016-10-01

A retrospective study. To analyze the efficacy and safety of perioperative halo-gravity traction as an adjunct to posterior vertebral column resection (PVCR) in the treatment of patients with severe congenital scoliosis and coexisting asymptomatic intraspinal pathologies (diastematomyelia and/or tethered cord). Few reports to our knowledge review the use of perioperative halo-gravity traction and PVCR in this patient population. A total of 17 patients with a minimum 2-year follow-up who underwent PVCR using perioperative halo-gravity traction were analyzed. Patients were analyzed by age at date of examination (range, 11-23 y; mean, 14.4 y), sex (7 male, 10 female), major coronal curve magnitude (range, 108-149 degrees; average, 125 degrees), major sagittal curve magnitude (range, 72-118 degrees; average, 91 degrees). Complications related to halo traction and PVCR were reviewed. Radiographic outcomes demonstrated Cobb angle of major curve had an average correction of 28% after halo traction and it measured 53 degrees (range, 42-84 degrees) at the last follow-up, for a 58% correction. Maximal kyphosis improved to 58 degrees (range, 43-76 degrees) at ultimate follow-up. There were no permanent neurological deficits in this series. The study results suggested that surgical treatment for intraspinal abnormality may be unnecessary in asymptomatic patients with severe congenital scoliosis who are undergoing scoliosis corrective surgery. PVCR combined with perioperative traction is a safe and effective alternative for such patients.

Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

PubMed Central

Bártfai, Zoltán; Bánhidy, Ferenc

2011-01-01

The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis.

PubMed

Li, Hui; Wei, Jun; Ma, Ying; Shang, Tao

2005-09-01

To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99

Congenital heart defects and extracardiac malformations.

PubMed

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Association of young and advanced age of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

PubMed

Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E

2015-03-01

To analyze the possible association of maternal age with the risk of all congenital abnormalities (CAs) in a population-based large case-matched control data set. The Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with isolated CA and their 34,311 matched controls. First the distribution of maternal age groups in 24 CA-groups and their matched controls was compared. In the second step, young (19 years or less) and advanced (35 years or more) age groups were compared. Finally, the subgroups of neural-tube defects, congenital heart defects and abdominal wall's CA were evaluated separately. A higher risk of gastroschisis, congenital heart defects, particularly left-sided obstructive defects, undescended testis and clubfoot was found in the youngest age group (19 years or less) of cases. The higher proportion of pregnant women with advanced age (i.e. 35 years or more) showed only a borderline excess in cases with clubfoot. The so-called U-shaped risk of maternal age distribution was found in cases with clubfoot and in the total group of isolated CAs. The maternal age is a contributing factor to the origin of some isolated CAs mainly in young pregnant women.

Two congenital coronary abnormalities affecting heart function: anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia.

PubMed

Xiao, Yanyan; Jin, Mei; Han, Ling; Ding, Wenhong; Zheng, Jianyong; Sun, Chufan; Lyu, Zhenyu

2014-01-01

The anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) and congenital left main coronary artery atresia (CLMCA-A) are two kinds of very rare coronary heart diseases which affect heart function profoundly. This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients. From April 1984 to July 2012, in Beijing Anzhen Hospital, 23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A. We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation, diagnosis, and treatments of these two kinds of congenital coronary abnormalities. The 23 patients (13 males and 10 females, aged ranging from 2.5 months to 65 years) identified with ALCAPA were classified into infantile type (age of onset younger than 12 months, 16 cases) and adult type (age of onset older than 12 months, 7 cases). Four patients were diagnosed with CLMCA-A (three males and one female, aged ranging from 3 months to 2 years). The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection, heart failure, dyspnea, feeding intolerance, diaphoresis, and failure to thrive. And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis, dilated cardiomyopathy, and acute myocardial infarction. As for the adult-type ALCAPA, cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease, myocarditis, or patent ductus arteriosus. In ECG examination: Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I, avL, and V4-V6, especially in lead avL. However, ECG of adult-type ALCAPA lacked distinct features. In chest radiography: pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A, while pulmonary artery segment dilation was more

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

PubMed

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Bioengineering a vaginal replacement using a small biopsy of autologous tissue.

PubMed

Dorin, Ryan P; Atala, Anthony; Defilippo, Roger E

2011-01-01

Many congenital and acquired diseases result in the absence of a normal vagina. Patients with these conditions often require reconstructive surgery to achieve satisfactory cosmesis and physiological function, and a variety of materials have been used as tissue sources. Currently employed graft materials such as collagen scaffolds and small intestine are not ideal in that they fail to mimic the physiology of normal vaginal tissue. Engineering of true vaginal tissue from a small biopsy of autologous vagina should produce a superior graft material for vaginal reconstruction. This review describes our current experience with the engineering of such tissue and its use for vaginal reconstruction in animal models. Our successful construction and implantation of neovaginas through tissue engineering techniques demonstrates the feasibility of similar endeavors in human patients. Additionally, the use of pluripotent stem cells instead of autologous tissue could provide an "off-the-shelf" tissue source for vaginal reconstruction.

Sex ratio of congenital abnormalities in the function of maternal age: a population-based study.

PubMed

Csermely, Gyula; Urbán, Robert; Czeizel, Andrew E; Veszprémi, Béla

2015-05-01

Maternal age effect is well-known in the origin of numerical chromosomal aberrations and some isolated congenital abnormalities (CAs). The sex ratio (SR), i.e. number of males divided by the number of males and females together, of most CAs deviates from the SR of newborn population (0.51). The objective of this analysis was to evaluate the possible association of maternal age with the SR of isolated CAs in a population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. First, SR of 24 CA entities/groups was estimated in 21,494 patients with isolated CA. In the next step SR of different maternal age groups was compared to the mean SR of the given CA-groups. The SR of four CA-groups showed some deviation in certain maternal age groups. Cases with anencephaly had female excess in young mothers (<25 years). Cases with skull's CAs particularly craniosynostosis had a male excess in cases born to women over 30 years. Two other CA groups (cleft lip ± palate and valvar pulmonic stenosis within the group of right-sided obstructive defect of heart) had significant deviation in SR of certain maternal age groups from the mean SR, but these deviations were not harmonized with joining age groups and thus were considered as a chance effect due to multiple testing. In conclusion, our study did not suggest that in general SR of isolated CAs might be modified by certain maternal age groups with some exception such as anencephaly and craniosynostosis. © 2014 Japanese Teratology Society.

Imaging of the coronary sinus: normal anatomy and congenital abnormalities.

PubMed

Shah, Sanket S; Teague, Shawn D; Lu, Jimmy C; Dorfman, Adam L; Kazerooni, Ella A; Agarwal, Prachi P

2012-01-01

Knowledge of the anatomy of the coronary sinus (CS) and cardiac venous drainage is important because of its relevance in electrophysiologic procedures and cardiac surgeries. Several procedures make use of the CS, such as left ventricular pacing, mapping and ablation of arrhythmias, retrograde cardioplegia, targeted drug delivery, and stem cell therapy. As a result, it is more important for physicians interpreting the results of computed tomographic (CT) examinations dedicated to the heart or including the heart to be able to identify normal variants and congenital anomalies and to understand their clinical importance. Abnormalities of the CS range from anatomic morphologic variations to hemodynamically significant anomalies such as an unroofed CS, anomalous pulmonary venous connection to the CS, and coronary artery-CS fistula. It can be important to identify some anatomic variations, even though they are clinically occult, to ensure appropriate preprocedural planning. Both CT and magnetic resonance imaging provide excellent noninvasive depiction of the anatomy and anomalies of the CS. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.324105220/-/DC1.

Transverse Vaginal Septum With Secondary Infertility: A Rare Case.

PubMed

Rahman, Hafeez; Trehan, Nikita; Singh, Shuchita; Goyal, Meenakshi

2016-01-01

To demonstrate the technique of laparoscopic vaginal reconstruction in a rare case of mid-vaginal septum with secondary infertility. A step-by-step explanation of the technique using videos and pictures (Canadian Task Force classification IV). Transverse vaginal septum is a rare condition, with an incidence of only 1 in 30,000 women. It is usually a congenital mullerian fusion defect; few cases of acquired septum have been reported. Roughly 40% of cases occur in the mid-vagina. Transverse vaginal septum typically presents with primary amenorrhea and hematocolpos. The goal of surgery is to create a patent vagina with restoration of fertility. The laparoscopic approach has proven superiority over the open technique. Laproscopic vaginal reconstruction was performed in a 24 year female with transverse vaginal septum. Dissection was done laproscopically up to mid vagina. Incision was given on vagina excising the septum followed by reconstruction. The laparoscopic approach to vaginal reconstruction avoids the abdominal incision, with its associated pain and possible adhesion formation. It also provides a better view for dissection. In this patient, a patent vagina was created in a single operation, with no postoperative dyspareunia, and fertility was restored. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

Congenital sensory neuropathy

PubMed Central

Barry, J. E.; Hopkins, I. J.; Neal, B. W.

1974-01-01

Two infants with sporadic congenital sensory neuropathy are described. The criteria of generalized lack of superficial sensory appreciation, hypotonia, areflexia, together with histological evidence of abnormalities of sensory neural structures in skin and peripheral nerves have been met. No abnormality of motor or autonomic nerves was shown. ImagesFIG. PMID:4131674

Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.

PubMed

Lv, Wei; Wang, Shuyu

2014-11-01

Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (P<0.001), although the detection of the 22q11 microdeletion was not significantly different between the two groups (P=0.583). In addition, all fetuses with the 22q11 microdeletion occurred de novo. In conclusion, genetic factors are important in the etiology of CHD. Where fetuses present with cardiac defects, additional chromosomal analysis is required to detect extracardiac abnormalities. Fetuses with heart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

Vaginal Discharge: What's Normal, What's Not

MedlinePlus

... Discharge? Vaginal infections, such as bacterial vaginosis , candidiasis ( yeast infection ), and trichomoniasis are common causes of abnormal ... having sex, such as bacterial vaginosis or a yeast infection. If you notice any changes in your ...

The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina.

PubMed

Qin, Chenglu; Luo, Guangnan; Du, Min; Liao, Shi; Wang, Chunping; Xu, Keke; Tang, Jie; Li, Baoyan; Zhang, Juanjuan; Pan, Hongxin; Ball, Tyler W; Fang, Yujiang

2016-06-01

To evaluate the outcomes of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital vaginal atresia. A retrospective study enrolled patients diagnosed with congenital vaginal atresia who were treated with one of two different laparoscope-assisted peritoneal vaginoplasty techniques (named Luohu-one and Luohu-two) between October 31, 2001 and December 31, 2014. Operative time, intraoperative bleeding volume, surgical difficulty, complications, and post-procedure sexual satisfaction were reported. Data were collected for 620 patients. The Luohu-one procedure was used in the treatment of 145 patients, while 475 patients were treated with the Luohu-two procedure. In 5 (0.8%) patients, it was necessary to perform a sigmoid colon vaginoplasty. During surgery, 16 patients experienced a rectal injury, among whom, 9 patients experienced a rectal-vaginal fistula. Follow-up data extending to 7years were available for 285 patients. Of these 285 patients, 231 agreed to report details of their sexual experiences. In total, 222 (96.1%) patients reported being very satisfied with their vaginal conditions and sex life. The Luohu-two procedure demonstrated shorter operative and recovery time, and reduced intraoperative bleeding. However, both procedures demonstrated satisfactory results. Laparoscope-assisted peritoneal vaginoplasty demonstrated good safety and effectiveness in the treatment of patients with congenital vaginal atresia. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats.

PubMed

Suo, Guihai; Shen, Feifei; Sun, Baolan; Song, Honghua; Xu, Meiyu; Wu, Youjia

2018-05-14

EphA5 and its ligand ephrin-A5 interaction can trigger synaptogenesis during early hippocampus development. We have previously reported that abnormal EphA5 expression can result in synaptogenesis disorder in congenital hypothyroidism (CH) rats. To better understand its precise molecular mechanism, we further analyzed the characteristics of ephrin-A5 expression in the hippocampus of CH rats. Our study revealed that ephrin-A5 expression was downregulated by thyroid hormone deficiency in the developing hippocampus and hippocampal neurons in rats. Thyroxine treatment for hypothyroid hippocampus and triiodothyronine treatment for hypothyroid hippocampal neurons significantly improved ephrin-A5 expression but could not restore its expression to control levels. Hypothyroid hippocampal neurons in-vitro showed synaptogenesis disorder characterized by a reduction in the number and length of neurites. Furthermore, the synaptogenesis-associated molecular expressions of NMDAR-1 (NR1), PSD95 and CaMKII were all downregulated correspondingly. These results suggest that ephrin-A5 expression may be decreased in CH, and abnormal activation of ephrin-A5/EphA5 signaling affects synaptogenesis during brain development. Such findings provide an important basis for exploring the pathogenesis of CH genetically.

[Influence of vaginal microflora on the presence of persistent atypical squamous cells and atypical glandular cells in pap smear--a 3-year study].

PubMed

Ludwin, Inga; Ludwin, Artur; Basta, Antoni

2010-05-01

the evaluation of influence of abnormal vaginal biocoenosis on presence and maintenance ASC and AGC in Pap smears. The study group consisted of 242 non-pregnant women (25-65 years of age): 207 women (4.96%) with atypical sqamous cells and 35 (0.7%) with atypical glandular cells. In all women the vaginal flora was assessed by Nugent scale. Vaginal flora was normal in 157 (75.8%) and pathological in 50 (24.1%) women with ASC. In the ASC subgroup, the highest proportion of physiological vaginal flora was observed in 151 patients (77.4%) with ASC-US, in comparison to 44 (22.6%) with ASC-H, in which the percentage of women with normal or abnormal flora was the same (50% vs 50%). This difference was statistically significant. In case of AGC, vaginal culture was physiological in 23 (65.7%) women, and in 12 (34.3%) abnormal vaginal flora with features of the inflammation. The statistically significant influence of abnormal vaginal flora on the presence of atypical endometrial and endocervical cells was not observed. We did not observed any influence of abnormal vaginal flora on the presence, regression and progression of ASC and AGC.

Prevalence of prenatal brain abnormalities in fetuses with congenital heart disease: a systematic review.

PubMed

Khalil, A; Bennet, S; Thilaganathan, B; Paladini, D; Griffiths, P; Carvalho, J S

2016-09-01

Studies have shown an association between congenital heart defects (CHDs) and postnatal brain abnormalities and neurodevelopmental delay. Recent evidence suggests that some of these brain abnormalities are present before birth. The primary aim of this study was to perform a systematic review to quantify the prevalence of prenatal brain abnormalities in fetuses with CHDs. MEDLINE, EMBASE and The Cochrane Library were searched electronically. Reference lists within each article were hand-searched for additional reports. The outcomes observed included structural brain abnormalities (on magnetic resonance imaging (MRI)) and changes in brain volume (on MRI, three-dimensional (3D) volumetric MRI, 3D ultrasound and phase-contrast MRI), brain metabolism or maturation (on magnetic resonance spectroscopy and phase-contrast MRI) and brain blood flow (on Doppler ultrasound, phase-contrast MRI and 3D power Doppler ultrasound) in fetuses with CHDs. Cohort and case-control studies were included and cases of chromosomal or genetic abnormalities, case reports and editorials were excluded. Proportion meta-analysis was used for analysis. Between-study heterogeneity was assessed using the I(2) test. The search yielded 1943 citations, and 20 studies (n = 1175 cases) were included in the review. Three studies reported data on structural brain abnormalities, while data on altered brain volume, metabolism and blood flow were reported in seven, three and 14 studies, respectively. The three studies (221 cases) reporting on structural brain abnormalities were suitable for inclusion in a meta-analysis. The prevalence of prenatal structural brain abnormalities in fetuses with CHD was 28% (95% CI, 18-40%), with a similar prevalence (25% (95% CI, 14-39%)) when tetralogy of Fallot was considered alone. These abnormalities included ventriculomegaly (most common), agenesis of the corpus callosum, ventricular bleeding, increased extra-axial space, vermian hypoplasia, white

Douching for perceived vaginal odor with no infectious cause of vaginitis: a randomized controlled trial.

PubMed

Hassan, Sarmina; Chatwani, Ashwin; Brovender, Herman; Zane, Richard; Valaoras, Thomas; Sobel, Jack D

2011-04-01

To demonstrate the effectiveness of medical-grade stainless steel Water Works Douching Device for treating abnormal vaginal odor in comparison with a commercially available over-the-counter plastic douching device. In a multicenter study, 140 women with perceived vaginal odor with no vaginal infection were randomized to either Water Works or control group in a 1:1 ratio and were douched daily for 4 weeks. A visual analog scale (VAS) was used to assess the intensity of vaginal odor. Primary outcome included subject assessment of odor improvement and Nugent Gram stain score of vaginal secretions. Secondary outcome compared the efficacy and safety of Water Works with control douching device. Each patient underwent baseline, week 2, and week 4 visits. The final analytic sample consisted of 96 women. Success score at 4 weeks was 78% for the Water Works group and 38.5% for the control group. Mean VAS was significantly reduced, and Nugent and Lactobacillus scores were maintained in both groups. In the Water Works group, VAS was reduced from 7.3 ± 0.3 to 1.8 ± 0.6 (p < .001) after 4 weeks. In the control group, baseline versus 4 weeks VAS was 7.2 ± 0.3 and 3.4 ± 0.8 (p < .003). Women reported significant reduction of vaginal odor after douching with water for 4 weeks without any alteration of vaginal flora. The Water Works Douching Device was superior to over- the-counter device in reducing vaginal odor.

Prevalence of Non-cardiac and Genetic abnormalities in Neonates Undergoing Cardiac Surgery: Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database

PubMed Central

Patel, Angira; Costello, John M.; Backer, Carl L.; Pasquali, Sara K.; Hill, Kevin D.; Wallace, Amelia S.; Jacobs, Jeffrey P.; Jacobs, Marshall L.

2016-01-01

Background Among congenital heart disease (CHD) patients, the coexistence of non-cardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen, as increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac surgery using a large, nationally representative clinical registry. Methods The Society of Thoracic Surgeons-Congenital Heart Surgery Database (STS-CHSD) was queried to identify neonates (≤ 30 days) who underwent index cardiac operations from 2010–2013. The fundamental cardiac diagnosis was used to identify 10 diagnostic groups. The prevalence of NC/GA/S was reported across each group. Results The cohort included 15,376 index neonatal operations from 112 centers. Overall 18.8% (2,894/15,376) of operations were performed on neonates with NC/GA/S. Patients with atrioventricular septal defect (212/357, 59.4%), interrupted aortic arch (248/567, 43.7%), truncus arteriosus (204/554, 36.8%), tetralogy of Fallot (417/1383, 30.2%) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition (111/2778, 4.0%) had the lowest prevalence. The most commonly identified NC/GA/S included: heterotaxy (597/15,376, 3.9%), DiGeorge/22q11 deletion (550/15,376, 3.6%), Down syndrome/trisomy 21 (318/15, 376, 2.1%), intestinal malrotation (220/15,376, 1.4%), and Turner syndrome/45XO (189/15,376, 1.2%). Conclusions The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management. PMID:27319986

Congenital Median Upper Lip Fistula

PubMed Central

al Aithan, Bandar

2012-01-01

Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

Abnormal lung function in adults with congenital heart disease: prevalence, relation to cardiac anatomy, and association with survival.

PubMed

Alonso-Gonzalez, Rafael; Borgia, Francesco; Diller, Gerhard-Paul; Inuzuka, Ryo; Kempny, Aleksander; Martinez-Naharro, Ana; Tutarel, Oktay; Marino, Philip; Wustmann, Kerstin; Charalambides, Menelaos; Silva, Margarida; Swan, Lorna; Dimopoulos, Konstantinos; Gatzoulis, Michael A

2013-02-26

Restrictive lung defects are associated with higher mortality in patients with acquired chronic heart failure. We investigated the prevalence of abnormal lung function, its relation to severity of underlying cardiac defect, its surgical history, and its impact on outcome across the spectrum of adult congenital heart disease. A total of 1188 patients with adult congenital heart disease (age, 33.1±13.1 years) undergoing lung function testing between 2000 and 2009 were included. Patients were classified according to the severity of lung dysfunction based on predicted values of forced vital capacity. Lung function was normal in 53% of patients with adult congenital heart disease, mildly impaired in 17%, and moderately to severely impaired in the remainder (30%). Moderate to severe impairment of lung function related to complexity of underlying cardiac defect, enlarged cardiothoracic ratio, previous thoracotomy/ies, body mass index, scoliosis, and diaphragm palsy. Over a median follow-up period of 6.7 years, 106 patients died. Moderate to severe impairment of lung function was an independent predictor of survival in this cohort. Patients with reduced force vital capacity of at least moderate severity had a 1.6-fold increased risk of death compared with patients with normal lung function (P=0.04). A reduced forced vital capacity is prevalent in patients with adult congenital heart disease; its severity relates to the complexity of the underlying heart defect, surgical history, and scoliosis. Moderate to severe impairment of lung function is an independent predictor of mortality in contemporary patients with adult congenital heart disease.

Congenital giant epulis obstructing oral cavity: newborn emergency.

PubMed

Gnassingbe, Komla; Mihluedo-Agbolan, Komlan A; Bissa, Harefetéguéna; Amegbor, Koffi; Noumedem, Nguefack Blanchard; Egbohou, Pilakimwe; Mama, Wakatou; Akakpo-Numado, Gamedzi K; Tekou, Hubert

2014-01-01

The congenital epulis is a benign congenital granular cell tumor arising most often of the alveolar ridge of the jawbone. When giant, it is source of digestive discomfort disabling feeding. We report the case of a newborn female, vaginal delivery, presented with a giant intraoral tumor. Tumor obstructing the mouth of the newborn and prevent the attachment and feeding. The treatment consisted of excision of the tumor under general anesthesia. The histology of the tumor was revealed that it was an epulis.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

PubMed

Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

2013-10-01

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Intracardiac echocardiographic guidance for hemodynamic assessment in a patient with congenital abnormalities and a prosthetic aortic valve.

PubMed

Papafaklis, M I; Ligthart, J M R; Vaina, S; Witsenburg, M; Bogers, A J J C; Serruys, P W

2005-01-01

In this case report, we present the use of intracardiac echocardiography (ICE) for guiding the cardiac catheterization and subsequent hemodynamic investigation in an unusual patient case with multiple congenital abnormalities (bicuspid aortic valve, left cervical aortic arch, two aortic coarctations) and two aortic valve replacement operations in the past. The ICE catheter (AcuNav) permitted us to accurately and safely puncture the interatrial septum and place the Swan-Ganz catheter in the left ventricle; additionally, visualization of the aortic coarctation in the ascending aorta was also achieved.

Congenital bilateral upper eyelid eversion: report of a case.

PubMed

Cingü, Abdullah Kürşat; Sahin, Alparslan; Yüksel, Harun; Ozkök, Ahmet; Arı, Seyhmus; Caça, Ihsan

2014-01-01

Congenital bilateral upper eyelid eversion is a rare condition and the definite cause is not known. It is often seen in Black babies or babies with Down's syndrome. With early diagnosis and appropriate treatment, the condition can be managed without surgery. We report a case of congenital upper eyelid eversion in an otherwise healthy Caucasian neonate, born by normal vaginal delivery. The case responded well to conservative treatment, including eyelid repositioning, lubricants, antibiotic ointment, and eyelid patching.

Aerobic vaginitis in pregnancy.

PubMed

Donders, Ggg; Bellen, G; Rezeberga, D

2011-09-01

Aerobic vaginitis (AV) is an alteration in vaginal bacterial flora that differs from bacterial vaginosis (BV). AV is characterised by an abnormal vaginal microflora accompanied by an increased localised inflammatory reaction and immune response, as opposed to the suppressed immune response that is characteristic of BV. Given the increased local production of interleukin (IL)-1, IL-6 and IL-8 associated with AV during pregnancy, not surprisingly AV is associated with an increased risk of preterm delivery, chorioamnionitis and funisitis of the fetus. There is no consensus on the optimal treatment for AV in pregnant or non-pregnant women, but a broader spectrum drug such as clindamycin is preferred above metronidazole to prevent infection-related preterm birth. The exact role of AV in pregnancy, the potential benefit of screening, and the use of newer local antibiotics, disinfectants, probiotics and immune modulators need further study. © 2011 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2011 RCOG.

Vital endowments: Sir Charles Bell and the history of some congenital abnormalities of the upper limb.

PubMed

Thurston, Alan

2011-12-01

Born in Edinburgh in 1774 Sir Charles Bell, as a young man, studied anatomy and surgery in his hometown. There followed a distinguished career that culminated in his becoming the first professor of Anatomy and Surgery at the College of Surgeons in London. Renowned as a brilliant neuroanatomist he was invited, on the advice of His Grace the Archbishop of Canterbury and the Bishop of London, to contribute one of eight volumes of a work on the Power Wisdom and Goodness of God as manifested in the Creation - known as the Bridgewater Treatises. 'The Hand its Mechanism and Vital Endowments as Evincing Design' was published in 1833 and it is an account of his considering the hand as a machine that has been engineered to exacting standards to interact with the environment in which we live. In it he expressed a deep understanding of the similarity of the structure of the upper limbs of the higher orders of animals. The similarity of the paddle of a turtle and a human hand with acrosymbrachydactyly is unmistakable. This congenital abnormality, given the eponymous title of Apert's syndrome, is one of a number of congenital abnormalities that have parallels in the animal kingdom. Others who have had similar syndromes named after them include Poland, Marfan, Streeter and a number of others. The life and times of these men and their contributions to medicine will be presented in this paper. © 2011 The Author. ANZ Journal of Surgery © 2011 Royal Australasian College of Surgeons.

Congenital Abnormalities of the Mouth

PubMed Central

Lindsay, W. K.

1976-01-01

The spectrum of congenital malformations in the mouth is broad. The incidence of any one condition is not great, with the exception of the anomalies of cleft lip and cleft palate. Most of these oral malformations can produce urgent problems in neonatal management for the physician, including the care of the distraught parents. Considerable plastic and reconstructive surgery is involved in the subsequent management. The modern key to the complete successful management of these patients is the participation of a multidiscipline team. ImagesFig. 1p65-aFig. 2Fig. 3Fig. 4Fig. 5 PMID:21308081

Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.

PubMed

Patel, Angira; Costello, John M; Backer, Carl L; Pasquali, Sara K; Hill, Kevin D; Wallace, Amelia S; Jacobs, Jeffrey P; Jacobs, Marshall L

2016-11-01

Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large nationally representative clinical registry. The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) was queried to identify neonates (≤30 days) who underwent index cardiac operations from 2010 to 2013. The fundamental cardiac diagnosis was used to identify 10 diagnostic groups. The prevalence of NC/GA/S was reported across each group. The cohort included 15,376 index neonatal operations from 112 centers. Overall, 18.8% (2,894 of 15,376) of operations were performed in neonates with NC/GA/S. Patients with atrioventricular septal defect (212 of 357 [59.4%]), interrupted aortic arch (248 of 567 [43.7%]), truncus arteriosus (204 of 554 [36.8%]), and tetralogy of Fallot (417 of 1,383 [30.2%]) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition of the great arteries (111 of 2,778 [4.0%]) had the lowest prevalence. The most commonly identified NC/GA/S included heterotaxy (597 of 15,376 [3.9%]), DiGeorge syndrome or 22q11 deletion (550 of 15,376 [3.6%]), Down syndrome or trisomy 21 (318 of 15, 376 [2.1%]), intestinal malrotation (220 of 15,376 [1.4%]), and Turner syndrome or 45XO (189 of 15,376 [1.2%]). The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management. Copyright © 2016 The

Congenital giant epulis obstructing oral cavity: newborn emergency

PubMed Central

Gnassingbe, Komla; Mihluedo-Agbolan, Komlan A; Bissa, Harefetéguéna; Amegbor, Koffi; Noumedem, Nguefack Blanchard; Egbohou, Pilakimwe; Mama, Wakatou; Akakpo-Numado, Gamedzi K; Tekou, Hubert

2014-01-01

The congenital epulis is a benign congenital granular cell tumor arising most often of the alveolar ridge of the jawbone. When giant, it is source of digestive discomfort disabling feeding. We report the case of a newborn female, vaginal delivery, presented with a giant intraoral tumor. Tumor obstructing the mouth of the newborn and prevent the attachment and feeding. The treatment consisted of excision of the tumor under general anesthesia. The histology of the tumor was revealed that it was an epulis. PMID:25396021

[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].

PubMed

Liu, Yang; Xie, Jiansheng; Geng, Qian; Xu, Zhiyong; Wu, Weiqin; Luo, Fuwei; Li, Suli; Wang, Qin; Chen, Wubin; Tan, Hongxi; Zhang, Hu

2017-02-10

To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV. Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.

Maternal urinary tract infection and related drug treatments during pregnancy and risk of congenital abnormalities in the offspring.

PubMed

Bánhidy, F; Acs, N; Puhó, E H; Czeizel, A E

2006-12-01

The association between urinary tract infection (UTI) of pregnant women and preterm birth/low birthweight is known, but the possible association between UTI and congenital abnormalities (CAs) was evaluated rarely. Only one study showed an association with atrial septal defect, thus we decided to check this possible association. The population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA); most maternal UTIs were based on medically recorded data. SETTING The HCCSCA, 1980-1996, contained 22 843 newborns or fetuses with CAs and 38 151 matched controls, i.e. newborn infants without any HCAs. Hungarian informative offspring: live births, stillbirths and prenatally diagnosed malformed fetuses. Case-control pair analysis. Twenty-five CA groups. A total of 1542 (6.75%) mothers in the case group had UTI during entire pregnancy compared with 2188 (5.74%) mothers in the control group (adjusted prevalence odds ratios [POR] with 95% CI: 1.15, 1.06-1.24). We did not find a higher prevalence of UTI during the second and/or third months of pregnancy in total case group (adjusted POR with 95% CI: 1.1, 0.9-1.2) and in any group of CAs including atrial septal defect type II. No evidence for the teratogenic effect of maternal UTI and related drug treatments during early pregnancy.

Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights into Altered Brain Maturation

PubMed Central

Morton, Paul D.; Ishibashi, Nobuyuki; Jonas, Richard A.

2017-01-01

In the past two decades it has become evident that individuals born with congenital heart disease (CHD) are at risk of developing life-long neurological deficits. Multifactorial risk factors contributing to neurodevelopmental abnormalities associated with CHD have been identified; however the underlying etiologies remain largely unknown and efforts to address this issue have only recently begun. There has been a dramatic shift in focus from newly acquired brain injuries associated with corrective and palliative heart surgery to antenatal and preoperative factors governing altered brain maturation in CHD. In this review, we describe key time windows of development during which the immature brain is vulnerable to injury. Special emphasis is placed on the dynamic nature of cellular events and how CHD may adversely impact the cellular units and networks necessary for proper cognitive and motor function. In addition, we describe current gaps in knowledge and offer perspectives about what can be done to improve our understanding of neurological deficits in CHD. Ultimately, a multidisciplinary approach will be essential in order to prevent or improve adverse neurodevelopmental outcomes in individuals surviving CHD. PMID:28302742

[Prenatal screening of congenital heart defects in population at low risk of congenital defects. A reality today].

PubMed

Sainz, J A; Zurita, M J; Guillen, I; Borrero, C; García-Mejido, J; Almeida, C; Turmo, E; Garrido, R

2015-01-01

We propose to demonstrate that it is possible to implement a valid (diagnostic sensitivity for major cardiac malformations 90%), and universal (applied to over 90% of pregnant women), prenatal screening method for congenital heart defects. Prospective study. A total of 12478 pregnant women were evaluated between January 2008 and December 2010. Congenital heart diseases were screened using fetal extended basic echocardiography (cardiac ultrasound). The prevalence of birth defects in general and congenital heart disease was 2.5% (2.2-2.7%) and 0.9% (0.7-1%) respectively. Congenital heart disease had a higher rate of association with other structural abnormalities with 11.5% (5.6-17.4%), 21% for major congenital heart disease (9.9-32%), and chromosomal abnormalities of 15.9% (9.1-22.7%), with 32.6% for major congenital heart disease (19.8-45.3%). A fetal cardiac ultrasound assessment was performed on 99.2% of pregnant women. The fetal echocardiography is useful for the diagnosis of congenital heart disease in general, and major congenital heart disease, with a sensitivity of 42.8% (33.5-52.5%) and 90.4% (78.9-96.8%), respectively, and a specificity for both of 99.9% (99.8-99.9%). It is possible to perform a valid prenatal and universal screening of major congenital heart disease. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl.

PubMed

Dural, Ozlem; Ugurlucan, Funda Gungor; Yasa, Cenk; Bastu, Ercan; Eren, Hulya; Yuksel, Bahar; Celik, Serdal; Akhan, Suleyman Engin

2017-02-01

Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl. An 11-year-old prepubertal girl presented with recurrent urinary tract infection, pyuria, and right-sided renal agenesis. The findings of perineal inspection, ultrasonography, and magnetic resonance imaging were consistent with a distal vaginal agenesis with pyometrocolpos. Discharging pyometrocolpos with dissection of the atretic portion and a pull-through vaginoplasty were performed. A cystoscopy showed no sign of a vesicovaginal or uterine fistula. This rare presentation of distal vaginal agenesis reminds us that congenital malformations of the female genital tract should be considered in patients with congenital anomalies of the urinary system and/or recurrent urinary tract infection, even during the prepubertal period. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.

PubMed

Wertelecki, W; Dev, V G; Superneau, D W

1985-08-01

Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

PubMed Central

Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M.H.F.; Brilstra, Eva H.; Brown, Chester W.; Brüggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D’Hooghe, Marc; de Vries, Bert B.A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Zepeda Mendoza, Cinthya J.; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Piña Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L.P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M.L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.

2017-01-01

Despite their clinical significance, characterization of balanced chromosomal abnormalities (BCAs) has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and revealed complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. This study proposes that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements, and provides insight into novel pathogenic mechanisms such as altered regulation due to changes in chromosome topology. PMID:27841880

Congenital abnormalities in newborns of women with pregestational diabetes: A time-trend analysis, 1994 to 2009.

PubMed

Agha, Mohammad M; Glazier, Richard H; Moineddin, Rahim; Booth, Gillian

2016-10-01

The main objective of the current study is to examine the trend of congenital abnormalities among children born by women with and without diabetes, and to explore the impact of food fortification by folic acid on the rate of birth defects among these two groups of mothers. All children born alive in Ontario, Canada, during 1994 to 2009 and their mothers were included in study. Diagnosis of pregestational diabetes among mothers was identified using Diabetes registry, and diagnosis of birth defects among children were identified using hospital records. The prevalence of births among diabetic mothers increased by almost 200% during the study period. Among children born to mothers with diabetes, the prevalence for all anomalies combined was approximately 47% higher and for various cardiac and central nervous system anomalies up to a three- to fivefold higher than those born to nondiabetic mothers. While the rate of birth defects in both groups observed a considerable decline after food fortification in 1999, but the gap between two groups remained unchanged over time. While the prevalence of birth defects among diabetic pregnancies is still considerably higher that nondiabetic pregnancies, results of the current study indicate a declining trend in the prevalence of some congenital abnormalities among babies born to both diabetic and nondiabetic mothers after 1999. We need to be more aggressive in implementing preventive measures, including a national diabetes plan or the proposed universal policy of supra-dietary folic acid supplementation for women with diabetes who are of reproductive age. Birth Defects Research (Part A) 106:831-839, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects.

PubMed

Garcia Guerra, Gonzalo; Joffe, Ari R; Robertson, Charlene M T; Atallah, Joseph; Alton, Gwen; Sauve, Reg S; Dinu, Irina A; Ross, David B; Rebeyka, Ivan M

2014-03-01

Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children's Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.

Structural cerebral abnormalities and neurodevelopmental status in single ventricle congenital heart disease before Fontan procedure.

PubMed

Knirsch, Walter; Mayer, Kristina Nadine; Scheer, Ianina; Tuura, Ruth; Schranz, Dietmar; Hahn, Andreas; Wetterling, Kristina; Beck, Ingrid; Latal, Beatrice; Reich, Bettina

2017-04-01

Neonates with single ventricle congenital heart disease are at risk for structural cerebral abnormalities. Little is known about the further evolution of cerebral abnormalities until Fontan procedure. Between August 2012 and July 2015, we conducted a prospective cross-sectional two centre study using cerebral magnetic resonance imaging (MRI) and neuro-developmental outcome assessed by the Bayley-III. Forty-seven children (31 male) were evaluated at a mean age of 25.9 ± 3.4 months with hypoplastic left heart syndrome (25) or other single ventricle (22). Cerebral MRI was abnormal in 17 patients (36.2%) including liquor space enlargements (10), small grey (9) and minimal white (5) matter injuries. Eight of 17 individuals had combined lesions. Median (range) cognitive composite score (CCS) (100, 65-120) and motor composite score (MCS) (97, 55-124) were comparable to the reference data, while language composite score (LCS) (97, 68-124) was significantly lower ( P  = 0.040). Liquor space enlargement was associated with poorer performance on all Bayley-III subscores (CCS: P  = 0.02; LCS: P  = 0.002; MCS: P  = 0.013). The number of re-operations [odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1-4.3] ( P  = 0.03) and re-interventions (OR 2.1, 95% CI 1.1-3.8) ( P  = 0.03) was associated with a higher rate of overall MRI abnormalities. Cerebral MRI abnormalities occur in more than one third of children with single ventricle, while the neuro-developmental status is less severely affected before Fontan procedure. Liquor space enlargement is the predominant MRI finding associated with poorer neuro-developmental status, warranting further studies to determine aetiology and further evolution until school-age. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

The Effect of Noncardiac and Genetic Abnormalities on Outcomes Following Neonatal Congenital Heart Surgery.

PubMed

Alsoufi, Bahaaldin; Gillespie, Scott; Mahle, William T; Deshpande, Shriprasad; Kogon, Brian; Maher, Kevin; Kanter, Kirk

2016-01-01

Significant noncardiac and genetic abnormalities (NC and GA) are common in neonates with congenital heart defects. We sought to examine current-era effect of those abnormalities on early and late outcomes following cardiac surgery. The method from 2002-2012, 1538 neonates underwent repair (n = 860, 56%) or palliation (n = 678, 44%) of congenital heart defects. Regression models examined the effect of NC and GA on operative results, resource utilization, and late outcomes. Neonates with NC and GA (n = 312, 20%) had higher incidence of prematurity (21% vs 13%; P < 0.001) and weight ≤2.5kg (24% vs 12%; P < 0.001) than neonates without NC and GA (n = 1226, 80%). Although the incidence of single ventricle was comparable (34% vs 31%; P = 0.37), neonates with NC and GA underwent more palliation (52% vs 42%; P = 0.001) and subsequently had higher percentage of STAT mortality categories (Society of Thoracic Surgeons (STS) and the European Association for Cardio-thoracic Surgery (EACTS) Congenital Heart Surgery Mortality Categories) 4 and 5 procedures (78% vs 66%; P < 0.001). Adjusted logistic regression models that included disparate patient and operative variables showed that the presence of NC and GA was associated with increased unplanned reoperation (odds ratio = 1.7; 95% CI: 1.1-2.7; P = 0.03) and hospital mortality (odds ratio = 2.2; 95% CI: 1.3-3.6; P = 0.002). Adjusted linear regression models showed significant association between NC and GA and increased postoperative mechanical ventilation duration, intensive care unit, and hospital stays (P < 0.001 each). Adjusted hazard analysis showed that the presence of NC and GA was associated with diminished late survival (hazard ratio = 2.4; 95% CI: 1.9-3.1; P < 0.001) and that was evident in all subgroups of patients (P < 0.001 each). Conclusion is neonates with NC and GA commonly have associated risk factors for morbidity and mortality such as prematurity and low weight. After adjusting for those factors, the presence

Vaginal flora changes on Pap smears after insertion of levonorgestrel-releasing intrauterine device.

PubMed

Donders, Gilbert G G; Berger, Judith; Heuninckx, Hélène; Bellen, Gert; Cornelis, Ann

2011-04-01

The levonorgestrel intrauterine system (LNG-IUS) combines a uterine foreign body and the continuous release of low-dose levonorgestrel for contraception. Its influence on the rate of vulvovaginal infections and flora disturbance is insufficiently known, but important for contraceptive advice in women, especially those who develop recurrent vaginosis or Candida vulvovaginitis. Slides of 286 women who had a Pap smear taken before and 1 to 2 years after placement of a LNG-IUS were blindly reviewed for the presence of abnormal vaginal flora (AVF), bacterial vaginosis (BV), aerobic vaginitis (AV) and Candida vaginitis (CV). Prior to insertion, there were no differences in vaginal flora abnormalities between women using different kinds of contraception. LNG-IUS users did not have different rates of AVF, BV, AV or CV, but the general risk to develop any infection was increased. Uterine bleeding after insertion did not seem to predict a different flora type. We found that Pap smears suggested more vaginal infections after 1 year of LNG-IUS use than prior to insertion of the device. Copyright © 2011 Elsevier Inc. All rights reserved.

Cancer and congenital abnormalities in Asian children: a population-based study from the West Midlands.

PubMed Central

Powell, J. E.; Kelly, A. M.; Parkes, S. E.; Cole, T. R.; Mann, J. R.

1995-01-01

Cancer and associated congenital abnormalities were investigated in Muslim and non-Muslim Asian children from the West Midlands. Cancer incidence rates were calculated for Indian (non-Muslim), Pakistani/Bangladeshi (Muslim) and white children diagnosed from 1978 to 1992. Incidence was significantly higher in the Pakistanis, with an age-standardised rate (ASR) of 163 cases per million per year, compared with 115 for Indian and 125 for white children. Among Asian cancer patients, congenital malformations were significantly more common in Muslim (21%) compared with non-Muslim (7%). In Muslims the malformation excess was caused by autosomal recessive and dominant disorders (in 8% and 5% of cases respectively). Cancer malformation/predisposition syndromes were found in 10% of Muslims, compared with 2% of non-Muslims. In 33% of the Muslims with malformations, childhood cancer and a malformation were also present in a close relative. None of the non-Muslims with malformations had a relative with childhood cancer. The cancer excess in Muslims may be partly related to inherited genes causing both malformations and cancer. The prevalence of autosomal recessive disorders may be related to consanguinity, which is common in the Pakistani Muslim population. The high incidence of autosomal dominant disorders may be related to older paternal age at conception, giving rise to spontaneous mutations. PMID:8519679

Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

PubMed

Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

2017-02-01

Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

Vaginal microbial flora and outcome of pregnancy.

PubMed

Donati, Laura; Di Vico, Augusto; Nucci, Marta; Quagliozzi, Lorena; Spagnuolo, Terryann; Labianca, Antonietta; Bracaglia, Marina; Ianniello, Francesca; Caruso, Alessandro; Paradisi, Giancarlo

2010-04-01

The vaginal microflora of a healthy asymptomatic woman consists of a wide variety of anaerobic and aerobic bacterial genera and species dominated by the facultative, microaerophilic, anaerobic genus Lactobacillus. The activity of Lactobacillus is essential to protect women from genital infections and to maintain the natural healthy balance of the vaginal flora. Increasing evidence associates abnormalities in vaginal flora during pregnancy with preterm labor and delivery with potential neonatal sequelae due to prematurity and poor perinatal outcome. Although this phenomenon is relatively common, even in populations of women at low risk for adverse events, the pathogenetic mechanism that leads to complications in pregnancy is still poorly understood. This review summarizes the current knowledge and uncertainties in defining alterations of vaginal flora in non-pregnant adult women and during pregnancy, and, in particular, investigates the issue of bacterial vaginosis and aerobic vaginitis. This could help specialists to identify women amenable to treatment during pregnancy leading to the possibility to reduce the preterm birth rate, preterm premature rupture of membranes, chorioamnionitis, neonatal, puerperal and maternal-fetal infectious diseases. Vaginal ecosystem study with the detection of pathogens is a key instrument in the prevention of preterm delivery, pPROM, chorioamnionitis, neonatal, puerperal and maternal-fetal infections.

Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights Into Altered Brain Maturation.

PubMed

Morton, Paul D; Ishibashi, Nobuyuki; Jonas, Richard A

2017-03-17

In the past 2 decades, it has become evident that individuals born with congenital heart disease (CHD) are at risk of developing life-long neurological deficits. Multifactorial risk factors contributing to neurodevelopmental abnormalities associated with CHD have been identified; however, the underlying causes remain largely unknown, and efforts to address this issue have only recently begun. There has been a dramatic shift in focus from newly acquired brain injuries associated with corrective and palliative heart surgery to antenatal and preoperative factors governing altered brain maturation in CHD. In this review, we describe key time windows of development during which the immature brain is vulnerable to injury. Special emphasis is placed on the dynamic nature of cellular events and how CHD may adversely impact the cellular units and networks necessary for proper cognitive and motor function. In addition, we describe current gaps in knowledge and offer perspectives about what can be done to improve our understanding of neurological deficits in CHD. Ultimately, a multidisciplinary approach will be essential to prevent or improve adverse neurodevelopmental outcomes in individuals surviving CHD. © 2017 American Heart Association, Inc.

Congenital heart disease and chromossomopathies detected by the karyotype

PubMed Central

Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

2014-01-01

OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

Congenitally learned helpless rats show abnormalities in intracellular signaling.

PubMed

Kohen, Ruth; Neumaier, John F; Hamblin, Mark W; Edwards, Emmeline

2003-03-15

Affective disorders and the drugs used to treat them lead to changes in intracellular signaling. We used a genetic animal model to investigate to what extent changes in intracellular signal transduction confer a vulnerability to mood or anxiety disorders. Levels of gene expression in a selectively bred strain of rats with a high vulnerability to develop congenitally learned helplessness (cLH), a strain highly resistant to the same behavior (cNLH) and outbred Sprague-Dawley (SD) control animals were compared using quantitative reverse transcription polymerase chain reaction. Congenitally learned helpless animals had a 24%-30% reduced expression of the cyclic adenosine monophosphate response element binding protein messenger ribonucleic acid (mRNA) in the hippocampus and a 40%-41% increased level of the antiapoptotic protein bcl-2 mRNA in the prefrontal cortex compared to cNLH and SD rats. Other significant changes included changes in the expression levels of the alpha catalytic subunit of protein kinase A, glycogen synthase kinase 3beta, and protein kinase C epsilon. Congenitally learned helpless animals show evidence of altered signal transduction and regulation of apoptosis compared to cNLH and SD control animals.

Senna treatment in pregnant women and congenital abnormalities in their offspring--a population-based case-control study.

PubMed

Acs, Nándor; Bánhidy, Ferenc; Puhó, Erzsébet H; Czeizel, Andrew E

2009-07-01

Previously, the possible teratogenic effect of frequently used laxative drug, senna has not been checked in case-control epidemiological study. Objective of the study was the comparison of cases with congenital abnormalities (CAs) and their matched controls without CAs in the population-based large data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities. Of 22,843 cases with CA, 506 (2.2%) had mothers with senna treatment, while of 38,151 control newborn infants without CA, 937 (2.5%) were born to mothers with senna treatment (adjusted OR with 95% CI: 1.0, 0.9-1.1), and of 834 malformed controls with Down syndrome, 26 (3.1%) had mothers with the use of senna (OR with 95% CI: 0.7, 0.5-1.1). The range of senna doses was between 10mg and 30 mg, but most pregnant women used 20mg daily. The mothers with senna treatment showed the characteristics of pregnant women with constipation (elder with larger proportion of primiparae). There was no higher risk for 23 different CA groups after the senna treatment during the second and/or third gestational month of 260 mothers, i.e. in the critical period of most major CAs, compared with their 500 matched controls. Gestational age at delivery was somewhat longer (0.2 week) and the rate of preterm birth was lower (6.6% vs. 9.2%) in newborn infants without CA born to mothers with senna treatment compared with babies born to mothers without senna treatment. In conclusion, senna treatment did not associate with a higher risk of CAs in the offspring of pregnant women with constipation.

Distribution of maternal age and birth order groups in cases with unclassified multiple congenital abnormalities according to the number of component abnormalities: a national population-based case-control study.

PubMed

Csermely, Gyula; Czeizel, Andrew E; Veszprémi, Béla

2015-02-01

Multiple congenital abnormalities are caused by chromosomal aberrations, mutant major genes and teratogens. A minor proportion of these patients are identified as syndromes but the major part belonging to the group of unclassified multiple CAs (UMCAs). The main objective of this study was to evaluate the maternal age and birth order in pregnant women who had offspring affected with UMCA. The strong association between numerical chromosomal aberrations, e.g., Down syndrome and advanced maternal age is well-known and tested here. The Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980 to 1996, yielded a large population-based national data set with 22,843 malformed newborns or fetuses ("informative cases") included 1349 UMCA cases with their 2407 matched controls. Case-control comparison of maternal age and birth order was made for cases with UMCA, stratified by component numbers and their controls. In addition, 834 cases with Down syndrome were compared to 1432 matched controls. The well-known advanced maternal age with the higher risk for Down syndrome was confirmed. The findings of the study suggest that the young age of mothers associates with the higher risk of UMCA, in addition birth order 4 or more associates with the higher risk for UMCA with 2 and 3 component CAs. This study was the first to analyze the possible maternal and birth order effect for cases with UMCA, and the young age and higher birth order associated with a higher risk for UMCA. © 2014 Wiley Periodicals, Inc.

Management of adolescents with congenital adrenal hyperplasia

PubMed Central

Merke, Deborah P; Poppas, Dix P

2014-01-01

The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

[Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities].

PubMed

Faundes, Víctor; Santa María, Lorena; Morales, Paulina; Curotto, Bianca; Alliende, María Angélica

2017-07-01

In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients' characteristics and a positive CMA outcome. A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.

Congenital hypothyroidism of dogs and cats: a review.

PubMed

Bojanic, K; Acke, E; Jones, B R

2011-05-01

Congenital hypothyroidism is a rare and underdiagnosed congenital endocrine disorder in dogs and cats and the true incidence is unknown. The disorder may cause a range of clinical signs depending on the primary defect, which affect production of thyroid hormones; some cases present when adult. Hallmark clinical signs of congenital hypothyroidism are mental impairment and skeletal developmental abnormalities, resulting in disproportionate dwarfism; goitre may or may not be present. Documented causes of congenital hypothyroidism in dogs include deficiency of, or unresponsiveness to, thyrotropin-releasing hormone (TRH) or thyroid-stimulating hormone (TSH), thyroid dysgenesis, dyshormonogenesis and iodine deficiency. In cats, TSH unresponsiveness, thyroid dysgenesis, dyshormonogenesis and iodine deficiency have been confirmed. Adequate replacement therapy results in a successful outcome in the majority of cases, especially when started early in life, as permanent developmental abnormalities can be prevented. This review describes reported cases in dogs and cats, diagnostic investigation, and recommendations for treatment.

Hysteroscopic Resection of the Vaginal Septum in Uterus Didelphys with Obstructed Hemivagina: A Case Report

PubMed Central

Kim, Tae Eun; Lee, Gyoung Hoon; Jee, Byung Chul; Ku, Seung-Yup; Suh, Chang Suk; Kim, Seok Hyun; Kim, Jung Gu; Moon, Shin Yong

2007-01-01

Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare congenital anomaly. Excision of the obstructed vaginal septum is the treatment of choice for symptom relief and the preservation of reproductive capability. A 14-yr-old girl complained of persistent vaginal spotting following each menstruation. Pelvic magnetic resonance imaging revealed a uterus didelphys with left hematocolpos and ipsilateral renal agenesis. Instead of conventional transvaginal excision of the vaginal septum, we used hysteroscopic excision under transabdominal ultrasonographic guidance to preserve the integrity of the hymen. The postoperative course was uneventful, and clinical symptoms were completely resolved after this intervention. Resectoscopic excision of the vaginal septum was found to be easy, safe, effective, and appropriate for young women as it preserved hymen integrity. We believe that this is the first Korean report on the use of a hysteroscopy for vaginal septum resection in a patient with uterus didelphys with obstructed hemivagina. PMID:17728527

Possible association between hyperthyroidism in pregnant women and obstructive congenital abnormalities of urinary tract in their offspring--a population-based case-control study.

PubMed

Bánhidy, Ferenc; Puhó, Erzsébet H; Czeizel, Andrew E

2011-02-01

The teratogenic potential of some antithyroid drugs is known, but the aim of the study was to estimate the risk of congenital abnormalities (CAs) in the offspring of pregnant women with hyperthyroidism with or without antithyroid drug treatment. Comparison of the occurrence of medically recorded hyperthyroidism who had malformed fetuses/newborns (cases) and who delivered healthy babies (controls) in the population-based Hungarian Case-Control Surveillance System of CAs, 1980-1996. Of 22,843 cases with congenital abnormalities, 71 (0.31%) while of 38,151 controls, 116 (0.30%) had mothers with hyperthyroidism. The rate of hyperthyroidism in the mothers of cases with different CAs and in the mothers of matched controls was compared. Preeclampsia-eclampsia occurred more frequently in pregnant women with hyperthyroidism without antithyroid treatment. The analysis of specific groups of CAs showed an association between hyperthyroidism in pregnant women and obstructive defects of urinary tract in their children. The lack of appropriate treatment of pregnant women affected with hyperthyroidism seems to be the major problem, because it would be necessary to prevent the hyperthyroidism related risks of pregnancy complications and CAs which exceed the risk of antithyroid medication in these pregnant women.

Rectorrhagia and vaginal discharge caused by a vaginal foreign body--a case report and review of literature.

PubMed

Shiryazdi, S M; Heiranizadeh, N; Soltani, H R

2013-06-01

An 8-year-old girl was taken to an outpatient clinic of surgery suffering from rectorrhagia and purulent, smelly vaginal discharge. Colonoscopy and biopsy were done before referring and sulfasalazine regime was administrated for probable colitis. The surgeon performed a rigid rectosigmoidoscopy under general anesthesia and no positive evidence was found. Having examined the hymen, it was found to be intact but a purulent discharge was observed. After drying the discharge, a black foreign body was seen in the bottom of the vagina and brought out by a fine forceps. It was a toy's wheel. The patient and her mother both denied foreign body abusing history. It was recommended she go for a psychological consultation. Generally speaking, all young patients suffering from vaginal or rectal bleeding with or without discharge should have their vagina checked for a foreign body. What is recommended in such cases is to undergo sonography or plain radiography before considering invasive or non-invasive procedures for evaluating anal and sigmoid abnormalities. Last but not least, a vaginal irrigation, precise examination of hymen, and posterior fossa can prove very useful for detecting simple vaginal bodies that can lead to various vaginal, rectal and abdominal complications. Copyright © 2013 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Failed manual removal of the placenta after vaginal delivery.

PubMed

Bjurström, Johanna; Collins, Sally; Langhoff-Roos, Jens; Sundberg, Karin; Jørgensen, Annemette; Duvekot, Johannes J; Groenbeck, Lene

2018-02-01

A retained placenta after vaginal delivery where manual removal of placenta fails is a clinical challenge. We present six cases that illustrate the heterogeneity of the condition and discuss the etiology and terminology as well as the clinical management. Members of the European Working group on Abnormally Invasive Placenta (EW-AIP) were invited to report all recent cases of retained placenta that were not antenatally suspected to be abnormally adherent or invasive, but could not be removed manually despite several attempts. The six cases from Denmark, The Netherlands and the UK provide examples of various treatment strategies such as ultrasound-guided vaginal removal, removal of the placenta through a hysterotomy and just leaving the placenta in situ. The placentas were all retained, but it was only possible to diagnose abnormal invasion in the one case, which had a histopathological diagnosis of increta. Based on these cases we present a flow chart to aid clinical management for future cases. We need properly defined stringent terminology for the different types of retained placenta, as well as improved tools to predict and diagnose both abnormally invasive and abnormally adherent placenta. Clinicians need to be aware of the options available to them when confronted by the rare case of a retained placenta that cannot be removed manually in a hemodynamically stable patient.

[Vaginitis and vaginosis. Comparison of two periods].

PubMed

Ceruti, M; Canestrelli, M; Piantelli, G; Amone, F; Condemi, V; De Paolis, P; Ludovici, G; Somenzi, P

1993-10-01

Vaginitis is the most frequent gynecological disease. It is characterized by objective and subjective signs of inflammation and differs from bacterial vaginosis (BV) which is an abnormal condition of the vaginal ecosystem caused by the excessive growth of aerobic and anaerobic flora normally present in the vagina with an increased risk of pelvic inflammatory disease (PID). The authors report the results of a study carried out at the Centre for Gynecological Infections at the Clinic of Obstetrics and Gynecology of the University of Parma. 828 patients were enrolled in the study during the period 1985-86 and 1559 patients during the two-year period 1991-92. The aim of the study was to evaluate variations in epidemiological data for vaginitis and bacterial vaginosis in the two periods examined. No significant changes were observed (p > 0.05) with regard to the prevalence of Ca, Tv and BV forms. On the other hand, there was a significant reduction (p < 0.001) in the forms sustained by other microorganisms (above all, streptococcus and enterobacteria) between the first and second periods with a parallel increase in the number of negative cases. The analysis of the age distribution of vaginitis and BV showed a reduction of other microorganisms and an increase in negative vaginal swabs in adults (> 20 years old).

Congenital heart defects in Williams syndrome.

PubMed

Yuan, Shi-Min

2017-01-01

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

PubMed

Carlsson, Göran; Elinder, Göran; Malmgren, Helena; Trebinska, Alicja; Grzybowska, Ewa; Dahl, Niklas; Nordenskjöld, Magnus; Fadeel, Bengt

2009-12-01

Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame-shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.

Non-specific vaginitis: diagnostic features and response to imidazole therapy (metronidazole, ornidazole).

PubMed

Meech, R J; Loutit, J

1985-05-22

Detailed quantitative aerobic, anaerobic, fungal and mycoplasma flora was obtained for 43 women presenting with complaints of vaginal discharge and malodour. Clinical response was associated with eradication of the abnormal anaerobic flora, despite persistence of G vaginalis in nine (26%). Topical imidazole therapy appeared to have some advantage over oral therapy. Gram stains of vaginal swabs were found to be the most useful laboratory investigation.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

PubMed

Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P < .0001) or intrauterine growth retardation group (50.0% vs 14.3%, P = .044) was significantly higher than that in isolated congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P < .0001). No significant difference was observed in the detection rates between congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild

What's New in Congenital Scoliosis?

PubMed

Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

Comparison of two types of dipsticks to measure vaginal pH in clinical practice.

PubMed

Donders, Gilbert G G; Caeyers, Tinne; Tydhof, Priska; Riphagen, Ine; van den Bosch, Thierry; Bellen, Gert

2007-10-01

To assess the practical use of two dispsticks for measuring vaginal pH with a range 4-7 (Merck and Macherey Nagel in the diagnosis of vaginal infections. Routine gynaecological clinic in the General Hospital H Hart in Tienen and vulvo-vaginitis clinic in the University Hospital Gasthuisberg in Leuven, Belgium. After oral consent was obtained, 101 unselected consecutive women presenting for gynaecologic examination between 15 January 2004 and 15 February 2004 were included in an observational study. Vaginal smears were taken from the upper vaginal wall for pH measurement and for fresh wet mount examination by phase contrast microscopy for diagnosing lactobacillary grades and presence of pathogens. The observed color change of two different pH strips were compared with the color scale provided by the company by a junior investigator who was not familiar with the technique, nor with the pathology of the patient. The difficulty of the measurement was scored semi-quantitatively by assessing the time and effort necessary to decide on the correct pH. Using the Macherey-Nagel method, the mean pH score was lower in women with normal flora and in women with vaginal infections than when the Merck method was used, but the difference was not significant. The pH became progressively more abnormal with increasing lactobacillary grades, a correlation that was similar for both tests. The reading of the pH sticks was significantly simpler and quicker with Macherey-Nagel than with Merck. Although difficult readings with Merck strips were four times more frequent in the group of women with abnormal flora than in women with normal flora, this difference was not significant. (1) In both tests (Macherey-Nagel and Merck) the pH was more abnormal (higher) with increasing lactobacillary grades (declining number of lactobacillary morphotypes). (2) The Macherey-Nagel sticks are more user-friendly than Merck's.

Congenital portosystemic venous shunt.

PubMed

Papamichail, M; Pizanias, M; Heaton, N

2018-03-01

Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into extra- and intrahepatic shunts. They occur during liver and systemic venous vascular embryogenesis and are associated with other congenital abnormalities. They carry a higher risk of benign and malignant liver tumors and, if left untreated, can result in significant medical complications including systemic encephalopathy and pulmonary hypertension. This article reviews the various types of congenital portosystemic shunts and their anatomy, pathogenesis, symptomatology, and timing and options of treatment. What is Known: • The natural history and basic management of this rare congenital anomaly are presented. What is New: • This paper is a comprehensive review; highlights important topics in pathogenesis, clinical symptomatology, and treatment options; and proposes an algorithm in the management of congenital portosystemic shunt disease in order to provide a clear idea to a pediatrician. An effort has been made to emphasize the indications for treatment in the children population and link to the adult group by discussing the consequences of lack of treatment or delayed diagnosis.

Congenital intrahepatic portohepatic venous shunt: treatment with coil embolisation.

PubMed

Kim, I O; Cheon, J E; Kim, W S; Chung, J W; Yeon, K M; Yoo, S J; Seo, J K; Choi, J H

2000-05-01

Congenital abnormalities of the portal venous system are rare. There are few radiological descriptions of intrahepatic portosystemic venous shunt detected in the perinatal period. We report a congenital portosystemic shunt that was detected by US and treated with coil embolisation in the neonatal period.

A Lactobacillus-Deficient Vaginal Microbiota Dominates Postpartum Women in Rural Malawi

PubMed Central

2018-01-01

ABSTRACT The bacterial community found in the vagina is an important determinant of a woman's health and disease status. A healthy vaginal microbiota is associated with low species richness and a high proportion of one of a number of different Lactobacillus spp. When disrupted, the resulting abnormal vaginal microbiota is associated with a number of disease states and poor pregnancy outcomes. Studies up until now have concentrated on relatively small numbers of American and European populations that may not capture the full complexity of the community or adequately predict what constitutes a healthy microbiota in all populations. In this study, we sampled and characterized the vaginal microbiota found on vaginal swabs taken postpartum from a cohort of 1,107 women in rural Malawi. We found a population dominated by Gardnerella vaginalis and devoid of the most common vaginal Lactobacillus species, even if the vagina was sampled over a year postpartum. This Lactobacillus-deficient anaerobic community, commonly labeled community state type (CST) 4, could be subdivided into four further communities. A Lactobacillus iners-dominated vaginal microbiota became more common the longer after delivery the vagina was sampled, but G. vaginalis remained the dominant organism. These results outline the difficulty in all-encompassing definitions of what a healthy or abnormal postpartum vaginal microbiota is. Previous identification of community state types and associations among bacterial species, bacterial vaginosis, and adverse birth outcomes may not represent the complex heterogeneity of the microbiota present. (This study has been registered at ClinicalTrials.gov as NCT01239693.) IMPORTANCE A bacterial community in the vaginal tract is dominated by a small number of Lactobacillus species, and when not present there is an increased incidence of inflammatory conditions and adverse birth outcomes. A switch to a vaginal bacterial community lacking in Lactobacillus species is common

Lactobacillus-deficient vaginal microbiota dominate post-partum women in rural Malawi.

PubMed

Doyle, Ronan; Gondwe, Austridia; Fan, Yue-Mei; Maleta, Kenneth; Ashorn, Per; Klein, Nigel; Harris, Kathryn

2018-01-05

The bacterial community found in the vagina is an important determinant of a woman's health and disease. A healthy vaginal microbiota is associated with a lower species richness and high proportions of one of a number of different Lactobacillus spp.. When disrupted the resulting abnormal vaginal microbiota is associated with a number of disease states and poor pregnancy outcomes. Studies up until now have concentrated on relatively small numbers of American and European populations which may not capture the full complexity of the community, nor adequately predict what constitutes a healthy microbiota in all populations. In this study we sampled and characterised the vaginal microbiota from a cohort of 1107 women in rural Malawi found on vaginal swabs taken post-partum. We found a population dominated by Gardnerella vaginalis and devoid of the most common vaginal Lactobacillus species, even if the vagina was sampled over a year post-partum. The Lactobacillus -deficient anaerobic community commonly labelled community state type (CST) 4 could be sub-divided into four further communities. A Lactobacillus iners dominated vaginal microbiota became more common the longer after delivery the vagina was sampled, but G. vaginalis remained the dominant organism. These results outline the difficulty in all-encompassing definitions of what a healthy or abnormal vaginal microbiota is post-partum. Previous identification of community state types and associations between bacterial species, bacterial vaginosis and adverse birth outcomes may not represent the complex heterogeneity of the microbiota present. Importance A bacterial community in the vaginal tract that is dominated by small number of bacterial Lactobacillus species and when they are not present, there is a greater incidence of inflammatory conditions and adverse birth outcomes. A switch to a vaginal bacterial community lacking in Lactobacillus species is common after pregnancy. In this study we characterised the vaginal

Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis.

PubMed

Aragao, M F V V; Brainer-Lima, A M; Holanda, A C; van der Linden, V; Vasco Aragão, L; Silva Júnior, M L M; Sarteschi, C; Petribu, N C L; Valença, M M

2017-05-01

Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis. Twelve infants with congenital Zika syndrome (4 with arthrogryposis and 8 without) who had undergone brain and spinal cord MR imaging were retrospectively selected. Qualitative and quantitative analyses were performed and compared between groups. At visual inspection, both groups showed reduced thoracic spinal cord thickness: 75% (6/8) of the group without arthrogryposis and 100% (4/4) of the arthrogryposis group. However, the latter had the entire spinal cord reduced and more severely reduced conus medullaris anterior roots (respectively, P = .002 and .007). Quantitative differences were found for conus medullaris base and cervical and lumbar intumescences diameters (respectively, P = .008, .048, .008), with more prominent reduction in arthrogryposis. Periventricular calcifications were more frequent in infants with arthrogryposis ( P = .018). Most infants had some degree of spinal cord thickness reduction, predominant in the thoracic segment (without arthrogryposis) or in the entire spinal cord (with arthrogryposis). The conus medullaris anterior roots were reduced in both groups (thinner in arthrogryposis). A prominent anterior median fissure of the spinal cord was absent in infants without arthrogryposis. Brain stem hypoplasia was present in all infants with arthrogryposis, periventricular calcifications, in the majority, and polymicrogyria was absent. © 2017 by American Journal of Neuroradiology.

Characterisation of the vaginal Lactobacillus microbiota associated with preterm delivery.

PubMed

Petricevic, Ljubomir; Domig, Konrad J; Nierscher, Franz Josef; Sandhofer, Michael J; Fidesser, Maria; Krondorfer, Iris; Husslein, Peter; Kneifel, Wolfgang; Kiss, Herbert

2014-05-30

The presence of an abnormal vaginal microflora in early pregnancy is a risk factor for preterm delivery. There is no investigation on vaginal flora dominated by lactic acid bacteria and possible association with preterm delivery. We assessed the dominant vaginal Lactobacillus species in healthy pregnant women in early pregnancy in relation to pregnancy outcome. We observed 111 low risk pregnant women with a normal vaginal microflora 11 + 0 to 14 + 0 weeks of pregnancy without subjective complaints. Vaginal smears were taken for the identification of lactobacilli using denaturing gradient gel electrophoresis (DGGE). Pregnancy outcome was recorded as term or preterm delivery (limit 36 + 6 weeks of gestation). The diversity of Lactobacillus species in term vs. preterm was the main outcome measure. L. iners alone was detected in 11 from 13 (85%) women who delivered preterm. By contrast, L. iners alone was detected in only 16 from 98 (16%) women who delivered at term (p < 0.001). Fifty six percent women that delivered at term and 8% women that delivered preterm had two or more vaginal Lactobacillus spp. at the same time. This study suggests that dominating L. iners alone detected in vaginal smears of healthy women in early pregnancy might be associated with preterm delivery.

Pitfalls in diagnosis and management of distal vaginal agenesis: 10-year experience at a single centre.

PubMed

Ugur, M G; Balat, O; Ozturk, E; Bekerecioglu, M; Dikensoy, E

2012-07-01

To discuss common pitfalls in diagnosis and management of distal vaginal agenesis, and summarize 10 years of experience among 11 patients using an interposition full-thickness graft and fibrin glue. Eleven patients with distal vaginal agenesis were evaluated and managed with an interposition full-thickness graft to bridge the gap between the upper vagina and the introitus. Associated renal abnormalities and complications including infection, total lack of skin graft take, stress urinary incontinence, partial graft loss, vaginal stricture and graft uptake were all investigated. The mean age of the patients was 12.91 (standard deviation 1.22) years. All patients had primary amenorrhoea, cryptomenorrhea, and cyclical or constant pelvic pain. None of the patients had associated urological abnormalities, and there were no cases of infection, total lack of skin graft take, stress urinary incontinence, partial graft loss or vaginal stricture. Graft uptake was 100% in 10 of the 11 patients. Four patients have subsequently married and report a satisfactory sex life. Accurate diagnosis of distal vaginal agenesis and careful pre-operative set-up, including evaluation of associated anomalies, bowel preparation, available vaginal stents and a multidisciplinary approach for the potential need for grafts, may be key to success. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Congenital microcephaly: A diagnostic challenge during Zika epidemics.

PubMed

Alvarado-Socarras, Jorge L; Idrovo, Álvaro J; Contreras-García, Gustavo A; Rodriguez-Morales, Alfonso J; Audcent, Tobey A; Mogollon-Mendoza, Adriana C; Paniz-Mondolfi, Alberto

2018-02-19

The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemic in Latin America has highlighted the need for a better understanding of the underlying pathological mechanisms of microcephaly including both infectious and non-infectious causes. The diagnostic approach to microcephaly needs to include potential infectious and genetic etiologies, as well as environmental in-utero exposures such as alcohol, toxins, and medications. Emerging genetic alterations linked to microcephaly include abnormal mitotic microtubule spindle structure and abnormal function of centrosomes. We discuss the diagnostic challenge of congenital microcephaly in the context of understanding the links with ZIKV emergence as a new etiological factor involved in this birth defect. Copyright © 2018 Elsevier Ltd. All rights reserved.

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

PubMed

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-05-01

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Newly developed vaginal atrophy symptoms II and vaginal pH: a better correlation in vaginal atrophy?

PubMed

Tuntiviriyapun, P; Panyakhamlerd, K; Triratanachat, S; Chatsuwan, T; Chaikittisilpa, S; Jaisamrarn, U; Taechakraichana, N

2015-04-01

The primary objective of this study was to evaluate the correlation among symptoms, signs, and the number of lactobacilli in postmenopausal vaginal atrophy. The secondary objective was to develop a new parameter to improve the correlation. A cross-sectional descriptive study. Naturally postmenopausal women aged 45-70 years with at least one clinical symptom of vaginal atrophy of moderate to severe intensity were included in this study. All of the objective parameters (vaginal atrophy score, vaginal pH, the number of lactobacilli, vaginal maturation index, and vaginal maturation value) were evaluated and correlated with vaginal atrophy symptoms. A new parameter of vaginal atrophy, vaginal atrophy symptoms II, was developed and consists of the two most bothersome symptoms (vaginal dryness and dyspareunia). Vaginal atrophy symptoms II was analyzed for correlation with the objective parameters. A total of 132 naturally postmenopausal women were recruited for analysis. Vaginal pH was the only objective parameter found to have a weak correlation with vaginal atrophy symptoms (r = 0.273, p = 0.002). The newly developed vaginal atrophy symptoms II parameter showed moderate correlation with vaginal pH (r = 0.356, p < 0.001) and a weak correlation with the vaginal atrophy score (r = 0.230, p < 0.001). History of sexual intercourse within 3 months was associated with a better correlation between vaginal atrophy symptoms and the objective parameters. Vaginal pH was significantly correlated with vaginal atrophy symptoms. The newly developed vaginal atrophy symptoms II was associated with a better correlation. The vaginal atrophy symptoms II and vaginal pH may be better tools for clinical evaluation and future study of the vaginal ecosystem.

Congenital Lung Agenesis: Incidence and Outcome in the North of England.

PubMed

Thomas, Matthew; Robertson, Nic; Miller, Nicola; Rankin, Judith; McKean, Michael; Brodlie, Malcom

2017-07-03

Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. Birth Defects Research 109:857-859, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Perceived functional impact of abnormal facial appearance.

PubMed

Rankin, Marlene; Borah, Gregory L

2003-06-01

Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial

Congenital amusias.

PubMed

Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

Comorbid Conditions in Neonates With Congenital Heart Disease.

PubMed

Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

The ethics of abortions for fetuses with congenital abnormalities.

PubMed

Jotkowitz, Alan; Zivotofsky, Ari Z

2010-10-01

Abortion remains a highly contentious moral issue, with the debate usually framed as a battle between the fetus's right to life and the woman's right to choose. Often overlooked in this debate is the impact of the concurrent legalization of abortion and the development of new prenatal screening tests on the birth prevalence of many inherited diseases. Most proponents of abortion support abortion for fetuses with severe congenital diseases, but there has unfortunately been, in our opinion, too little debate over the moral appropriateness of abortion for much less severe congenital conditions such as Down's syndrome, deafness, and dwarfism. Due to scientific advances, we are looking at a future in which prenatal diagnosis will be safer and more accurate, raising the specter, and the concomitant ethical concerns, of wholesale abortions. Herein, we present a reframing of the abortion debate that better encompasses these conditions and offers a more nuanced position. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela.

PubMed

Yepez, Juan B; Murati, Felipe A; Pettito, Michele; Peñaranda, Carlos F; de Yepez, Jazmin; Maestre, Gladys; Arevalo, J Fernando

2017-05-01

The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed. To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela. This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American. Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus. Ophthalmic manifestations of congenital Zika syndrome. Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7%). Eleven patients (26%) had a combination of lesions in the posterior pole. Five patients (12%) were

Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela

PubMed Central

Yepez, Juan B.; Murati, Felipe A.; Pettito, Michele; Peñaranda, Carlos F.; de Yepez, Jazmin; Maestre, Gladys

2017-01-01

Importance The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed. Objective To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela. Design, Setting, and Participants This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American. Interventions Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus. Main Outcomes and Measures Ophthalmic manifestations of congenital Zika syndrome. Results Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7

Vaginal toxic shock reaction triggering desquamative inflammatory vaginitis.

PubMed

Pereira, Nigel; Edlind, Thomas D; Schlievert, Patrick M; Nyirjesy, Paul

2013-01-01

The study aimed to report 2 cases of desquamative inflammatory vaginitis associated with toxic shock syndrome toxin 1 (TSST-1)-producing Staphylococcus aureus strains. Case report of 2 patients, 1 with an acute and 1 with a chronic presentation, diagnosed with desquamative inflammatory vaginitis on the basis of clinical findings and wet mount microscopy. Pretreatment and posttreatment vaginal bacterial and yeast cultures were obtained. Pretreatment vaginal bacterial cultures from both patients grew TSST-1-producing S. aureus. Subsequent vaginal bacterial culture results after oral antibiotic therapy were negative. Desquamative inflammatory vaginitis may be triggered through TSST-1-mediated vaginal toxic shock reaction.

Congenital abnormalities in Japanese patients with Menkes disease.

PubMed

Gu, Yan-Hong; Kodama, Hiroko; Kato, Tadaaki

2012-10-01

Menkes disease (MNK) is an X-linked recessive disorder. Incidence of live-born infants with MNK is 2.8 per million live births in Japan. The aim of this study was to observe congenital malformations (CMs) in MNK patients. Subjects comprised 35 Japanese male patients with classical MNK who received copper histidine treatment. Patient clinical data were obtained anonymously from medical records or medical record summaries by pediatrician's retrospective review through a survey. We observed 21 different CMs in 14 patients. Eight of these had a single CM, while six had multiple CMs. The most frequent CM was higher arched palate with other CMs found in five patients. There was no relationship between CMs and mutations in the ATP7A gene. Using Mann-Whitney U tests, age at death was also significantly lower in MNK patients with CMs (P<0.05), compared to those without CMs, even though there was no significant difference of age onset, age at diagnosis and age at start of treatment with copper histidine between both groups of patients. Sudden death occurred in three MNK patients with CMs only: two with congenital heart disease, and one with microphallus. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Congenital intrahepatic portosystemic shunt: prenatal diagnosis and possible influence on fetal growth.

PubMed

Delle Chiaie, L; Neuberger, P; Von Kalle, T

2008-08-01

Congenital intrahepatic portosystemic shunts (IPSS) are abnormal vascular communications within the liver between branches of the portal vein and the hepatic veins. They have been recognized as an important disorder in children and should be differentiated from metabolic diseases, the symptoms of which may be similar. Several cases of prenatal diagnosis of abnormalities of the fetal venous system have been described in the literature, but the significance and prognosis of isolated congenital IPSS in prenatal life have not been reported and have only been derived from children. We present a case of congenital IPSS in which there was severe intrauterine growth restriction with a concomitant atypical fetal Doppler pattern. Findings on Doppler ultrasound indicate that the prenatal diagnosis of congenital IPSS is now feasible. (c) 2008 ISUOG. Published by John Wiley & Sons, Ltd.

Dandy-Walker syndrome and chromosomal abnormalities.

PubMed

Imataka, George; Yamanouchi, Hideo; Arisaka, Osamu

2007-12-01

Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.

Extra-cardiac manifestations of adult congenital heart disease.

PubMed

Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

2016-10-01

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

Are vaginal symptoms ever normal? a review of the literature.

PubMed

Anderson, Matthew; Karasz, Alison; Friedland, Sarah

2004-11-22

Vaginal symptoms such as discharge, odor, and itch are among the most common presenting complaints in primary care. We undertook to determine if the symptoms associated with vaginitis (discharge, odor, irritation) occur in normal women. To answer this question, we performed a literature review. We conducted a Medline search using the following terms: "vagina," "vaginal discharge," "secretion," "odors," discharge," "pruritus," "normal," "irritation," "itch," "physical examination," "healthy," "asymptomatic," "quantity," and "physiology." To find additional references we reviewed textbooks in gynecology, primary care, and physical diagnosis and contacted authors. There are few primary studies, and most are not of high quality. Existing data show that the quantity and quality of vaginal discharge in healthy women vary considerably both across individuals and in the same individual during the menstrual cycle. Most studies indicate that discharge is greatest at midcycle. Vaginal fluid contains malodorants, and one study of intact vaginal fluid found it to be malodorous. Two studies found that normal women reported irritative symptoms in the course of their menstrual cycle. The primary literature indicates that there is a wide variation in the normal vagina and that some of the symptoms associated with vaginal abnormality are found in well women. Both clinicians and their patients would benefit from a better understanding of the range of normal as well as what constitutes a meaningful departure from that range.

Prenatal diagnosis of congenital syphilis presenting with transient pleural effusion in the fetus: a case report and rising incidence of congenital syphilis in South Korea.

PubMed

Park, J Y; Han, G H; Kwon, D Y; Hong, H R; Seol, H J

2015-01-01

Congenital syphilis is preventable and curable if maternal infection is detected early, and pregnant women in Korea are screened routinely for this disease. Nevertheless, the incidence of congenital syphilis is not decreasing. Prenatal diagnosis of congenital syphilis is difficult and treatment is usually based on maternal syphilis serology. Prenatal ultrasonographic examination may sometimes reveal abnormal features suggesting congenital infection. The authors report a case of congenital syphilis that was diagnosed in both fetus and asymptomatic mother following detection on prenatal ultrasonography of transient fetal pleural effusion. The case is noteworthy for its sonographic presentation as fetal pleural effusion rapidly resolved spontaneously.

[Contribution of pelvic echography to the diagnosis of malformations of the utero-vaginal tract].

PubMed

Ellart, D; Houze de l'Aulnoit, H; Corette, L; Delcroix, M; Brabant, G

1990-01-01

Pelvic ultrasound has become very important in the diagnostic planning of utero-vaginal malformations. Having studies 93 congenital malformations of the utero-vaginal tract, the authors used ultrasound investigations as a first or second line of approach. They are able to describe the way ultrasound can be used for each type of malformation. Ultrasound is undeniably reliable for diagnosing bilateral incomplete aplasia of the uterus; so avoiding the need for laparoscopy. When failure of the uterus to develop on one side occurs it is possible to look for a closed or canalized rudimentary uterine nodule to confirm the diagnosis of a pseudo-unicorn uterus. The diagnosis by ultrasound of a bifid uterus shows up by the appearance of a "V" shape on the bladder. An intra-uterine septum can be diagnosed according to how serious the embryological abnormality is on ultrasound. Similarly the difference between a bicornuate uterus that is really just arcuate or partially septate cannot always be made with ultrasound because the embryological defect is a relatively minor one. Ultrasound examination is able to give a lot of information in diagnosing and calculating how much of the menstrual fluid is held back either on one side or completely. Its value is less when the two sides of the uterus communicate with one another. Although this way of examining patients may make it possible quite often to avoid carrying out hysterosalpingogram and laparoscopy, its greatest value is found when all methods of diagnosis are combined and interpreted in the context of a clinical situation.

Comparison of the pregnancy outcomes and the incidence of fetal congenital abnormalities in infertile women treated with letrozole and clomiphene citrate.

PubMed

Akbari Sene, Azadeh; Ghorbani, Selma; Ashrafi, Mahnaz

2018-06-01

The aim of the study was to evaluate the incidence of congenital fetal anomalies reported among infertile Iranian women treated with letrozole compared to those treated with Clomiphene Citrate (CC). This retrospective case-control study was performed based on information available from infertile patients referred to the Akbar-Abadi Hospital IVF Center, Tehran, Iran, undergoing ovulation induction (OI) or intrauterine insemination (IUI) cycles from 2007 to 2014.We compared sonographic findings, fertility results, pregnancy complications and congenital anomalies in two groups of women treated with letrozole and CC. Overall, the results of the 2009 cycles including 1237 CC cycles and 772 letrozole cycles were evaluated. In spite of a higher chance of ovulation following CC treatment, overall fertility rates were similar in the two treatment groups. The frequency of adverse outcomes of pregnancy was similar in the two groups, except for the incidence of first trimester abortion, which was significantly higher in the CC-treated group. The frequency of fetal anomalies and major chromosomal abnormalities in the Letrozole group was 4.76% (five cases), and in the CC group, it was 2.12% (three cases). This difference was not statistically significant. Based on the findings of this study, it seems that the incidence of congenital anomalies in offspring after OI with letrozole is not increased compared to the CC group. © 2018 Japan Society of Obstetrics and Gynecology.

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report.

PubMed

Abdel-Aziz, Mosaad

2012-06-25

Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Congenital neck masses.

PubMed

Rosa, Peter A; Hirsch, David L; Dierks, Eric J

2008-08-01

Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

Increased vaginal pH in Ugandan women: what does it indicate?

PubMed

Donders, G G G; Gonzaga, A; Marconi, C; Donders, F; Michiels, T; Eggermont, N; Bellen, G; Lule, J; Byamughisa, J

2016-08-01

Abnormal vaginal flora (AVF), indicative of bacterial vaginosis (BV) and/or aerobic vaginitis (AV), amongst other abnormalities, is a risk factor for multiple complications in pregnant as well as non-pregnant women. Screening for such conditions could help prevent these complications. Can self-testing for increased vaginal pH reliably detect BV and other high-risk microflora types, and is this more accurate than performing Gram stain-based Nugent score when screening for high-risk microflora? A total of 344 women presenting at different outpatient clinics in Mulago Hospital and Mbuikwe Outpatient clinics in Kampala, Uganda, were asked to test themselves by introducing a gloved finger into the vagina and smearing it on a microscopy slide, on which a pH strip was attached. Self-assessed categories of normal (pH 3.6-4.4), intermediate (4.5-4.7) or high pH (>4.7) were compared with demographic and with centralised microscopic data, both in air-dried rehydrated wet mounts (Femicare), as well as in Gram-stained specimens (Nugent). AVF was present in 38 %, BV in 25 % and AV in 11 % of patients. High pH and AVF is correlated with human immunodeficiency virus (HIV), infertility, frequent sex, but not vaginal douching. Screening for raised pH detects 90 % of AVF cases, but would require testing over half of the population. As AV and non-infectious conditions are frequent in women with AVF and high pH, Nugent score alone is an insufficient technique to screen women for a high-risk vaginal microflora, especially in infertile and HIV-infected women.

Non-specific vaginitis or vaginitis of undetermined aetiology.

PubMed

Faro, S; Phillips, L E

1987-01-01

Vaginitis is a complex syndrome that is probably the most common outpatient disease seen by the gynaecologist. The specific aetiologies of vaginitis are many. One of the most common entities, however, is "non-specific vaginitis" which can be subdivided into: Gardnerella vaginitis, anaerobic vaginosis, and vaginitis of undetermined aetiology. The role of Gardnerella as a causative agent for vaginitis has been studied in depth but its specific role remains controversial. Anaerobic vaginosis can be diagnosed by noting on microscopic examination the presence of clue cells, free-floating bacteria and numerous white blood cells (WBC's). Culturing an aliquot of the vaginal discharge reveals a high number of anaerobes. In addition, this condition responds to antibiotics effective against anaerobes, e.g., metronidazole. Vaginitis of undetermined aetiology is more complex and is characterized by a purulent vaginal discharge, a pH of 4.0-4.6, numerous WBC's, and a high concentration of bacteria. The microbiology of this vaginitis includes many facultative Gram-negative rods and Gram-positive cocci. Anaerobes may be present but do not make up a large component of the endogenous microflora. This condition does not respond to the usual antibiotic therapies employed in treating bacterial vaginitis. Since this condition appears to be primarily an inflammatory reaction, it may be responsive to topical antiinflammatory agents such as benzydamine.

Vaginal cancer

MedlinePlus

Vaginal cancer; Cancer - vagina; Tumor - vaginal ... Most vaginal cancers occur when another cancer, such as cervical or endometrial cancer , spreads. This is called secondary vaginal cancer. Cancer ...

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beggs, A.H.; Neumann, P.E.; Anderson, M.S.

1992-01-15

Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative tomore » Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.« less

Aerobic vaginal pathogens and their sensitivity pattern.

PubMed

Mumtaz, Shamim; Ahmad, Mumtaz; Aftab, Irum; Akhtar, Naeem; ul Hassan, Masood; Hamid, Abdul

2008-01-01

The vaginal flora is a complicated environment, containing dozens of microbiological species in variable quantities and relative proportions. The frequent cause of vaginal discharge is an infection or colonization with different microorganisms. Some pathologic conditions causing vaginitis are well defined yet, 7-72% of women with vaginitis may remain undiagnosed and such forms of abnormal vaginal flora neither considered as normal, nor can be called bacterial vaginosis have been termed as 'intermediate flora' and its management probably differ from that of bacterial vaginosis. It is of crucial importance in pregnant females at risk of preterm delivery. The present study has been conducted especially to elucidate this type of aerobic vaginal isolates and their culture and sensitivity towards currently used antibiotics. This study was conducted at the Microbiology Department of Fauji Foundation Hospital, Rawalpindi over a period of two years (April 2004-March 2006). One thousand, nine hundred and twenty three high vaginal swabs, both from indoor and outdoor patients were collected, cultured and their susceptibility to various antibiotics was determined. Significant growth was obtained in 731 samples. The highest frequency of infection (39.5%) was observed at 31-40 years followed by 41-50 years (35.8%). About 76% were from outdoor and 24% were from indoor patients. Staphylococcus aureus was the most prevalent vaginal pathogen at 11-60 yrs & with highest prevalence at 31-40 years followed by 41-50 years. It was a predominant pathogen in both indoor (35%) as well as outdoor (41.6%) patients, followed by enteric gram-negative bacilli and other gram-positive cocci. There were very few antibiotics among the conventionally available aminoglycosides, third generation cephalosporins, penicillin, quinolones, sulfonamides and tetracyclines possessing good sensitivity (> 80%) against any one the common aerobic vaginal pathogens. The effective chemotherapeutics agents belong to

Vaginal Atrophy

MedlinePlus

... an Endocrinologist Search Featured Resource Menopause Map™ View Vaginal Atrophy October 2017 Download PDFs English Editors Christine ... during this time, including vaginal dryness. What is vaginal atrophy? Vaginal atrophy (also referred to as vulvovaginal ...

Mid-gestation brain Doppler and head biometry in fetuses with congenital heart disease predict abnormal brain development at birth.

PubMed

Masoller, N; Sanz-CortéS, M; Crispi, F; Gómez, O; Bennasar, M; Egaña-Ugrinovic, G; Bargalló, N; Martínez, J M; Gratacós, E

2016-01-01

Fetuses with congenital heart disease (CHD) show evidence of abnormal brain development before birth, which is thought to contribute to adverse neurodevelopment during childhood. Our aim was to evaluate whether brain development in late pregnancy can be predicted by fetal brain Doppler, head biometry and the clinical form of CHD at the time of diagnosis. This was a prospective cohort study including 58 fetuses with CHD, diagnosed at 20-24 weeks' gestation, and 58 normal control fetuses. At the time of diagnosis, we recorded fetal head circumference (HC), biparietal diameter, middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and brain perfusion by fractional moving blood volume. We classified cases into one of two clinical types defined by the expected levels (high or low) of placental (well-oxygenated) blood perfusion, according to the anatomical defect. All fetuses underwent subsequent 3T-magnetic resonance imaging (MRI) at 36-38 weeks' gestation. Abnormal prenatal brain development was defined by a composite score including any of the following findings on MRI: total brain volume <  10(th) centile, parietoccipital or cingulate fissure depth <  10(th) centile or abnormal metabolic profile in the frontal lobe. Logistic regression analysis demonstrated that MCA-PI (odds ratio (OR), 12.7; P = 0.01), CPR (OR, 8.7; P = 0.02) and HC (OR, 6.2; P = 0.02) were independent predictors of abnormal neurodevelopment; however, the clinical type of CHD was not. Fetal brain Doppler and head biometry at the time of CHD diagnosis are independent predictors of abnormal brain development at birth, and could be used in future algorithms to improve counseling and targeted interventions. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Primary congenital glaucoma associated with Patau syndrome with long survival.

PubMed

Jaru-Ampornpan, Pimkwan; Kuchtey, John; Dev, V G; Kuchtey, Rachel

2010-06-23

Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13. Copyright 2010, SLACK Incorporated.

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

PubMed Central

2012-01-01

Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU) of the University of Nigeria Teaching Hospital (UNTH), Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011) was undertaken. All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome. Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P < 0.05 Results Seventeen (17) out of a total of six hundred and seven newborn babies admitted in the newborn unit of UNTH over the study period (Jan 2007-March 2011) were found to have congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities), limb abnormalities (often in combination with neural tube defects of various types), omphalocoele, umbilical herniae

Vaginal health in contraceptive vaginal ring users - A review.

PubMed

Lete, Iñaki; Cuesta, María C; Marín, Juan M; Guerra, Sandra

2013-08-01

To provide an overview of the available data from clinical studies of vaginal conditions in women who use a vaginal ring as a contraceptive. A systematic review of the literature. Millions of women have already used the ethylene vinyl acetate vaginal ring that releases ethinylestradiol and etonogestrel for contraception. Because of its small size, more than four out of five women using the ring report that they do not feel it, even during sexual intercourse. No colposcopic or cytological changes have been observed in users, although approximately 10% have increased vaginal discharge. While in vitro studies have shown adhesion of Candida yeasts to the vaginal ring surface, clinical studies have not demonstrated a greater incidence of Candida infections compared to users of equivalent oral contraceptives. Some clinical studies suggest a lower incidence of bacterial vaginosis. No interaction exists between concomitant use of the vaginal ring and other drugs or products for vaginal use. The use of a contraceptive vaginal ring does not alter the vaginal ecosystem and therefore does not substantially affect vaginal health.

Antimicrobial resistance of abnormal vaginal discharges microorganisms in Ouagadougou, Burkina Faso

PubMed Central

Karou, Simplice D; Djigma, Florencia; Sagna, Tani; Nadembega, Christelle; Zeba, Moctar; Kabre, Aboudoulaye; Anani, Kokou; Ouermi, Djeneba; Gnoula, Charlemagne; Pietra, Virginio; Pignatelli, Salvatore; Simpore, Jacques

2012-01-01

Objective To assess the prevalence of bacterial strains and fungal strains infecting the vaginal tract and test their sensitivity to antibiotics in women attending Saint Camille Medical Centre in Ouagadougou. Methods From January 2008 to December 2009, a total of 2 000 vaginal swabs were cultivated for bacterial and fungal identification and isolation. Furthermore, bacterial strains were tested for their susceptibility to several antibiotics used in routine in the centre. Results The results revealed that microbial isolation and identification was attempted for 1 536/2 000 sample, a positivity rate of 76.80%. Candida albicans (48.76%), followed by Escherichia coli (16.67%), Streptococcus agalactiae (8.14%) and Staphylococcus aureus (7.55%) were the major agents of genital tract infections in patients. Mycoplasma hominis and Ureaplasma urealyticum combined accounted for less than 7%. Trichomonas vaginalis was identified in 1.04% cases. The antimicrobial tests revealed that the microorganisms developed resistance to several antibiotics including beta lactams. However, antibiotics such as cefamenzol, ciprofloxacin and norfloxacin were still active on these bacteria. Conclusions The results reveal that many sexually active women are infected by one or more microbial pathogens, probably because of the lack of hygiene or the adoption of some risky behaviors, such as not using condoms or having multiple sexual partners. Efforts should be made to address these points in the country. PMID:23569916

Congenital Hydrocephalus.

PubMed

Estey, Chelsie M

2016-03-01

There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital esophageal stenosis: the differential diagnosis and management.

PubMed

Jones, Douglas W; Kunisaki, Shaun M; Teitelbaum, Daniel H; Spigland, Nitsana A; Coran, Arnold G

2010-05-01

Congenital esophageal stenosis (CES) is a rare congenital abnormality that is difficult to diagnose and often masquerades as other types of structural esophageal disease. We report three cases of CES with different presenting symptoms. We advocate for balloon dilation as the preferred first approach to therapeutic intervention. CES is an important clinical entity in the evaluation of pediatric esophageal disorders and should be suspected in young infants with dysphagia.

Polymicrobial nature of vaginitis in young women: a microbiological and therapeutic study.

PubMed

Kippax, R A; Caradoc-Davies, G; Meech, R J

1982-03-24

Thirty-six young females attending the Student Health Service with vaginitis were investigated by serial semiquantitative aerobic, anaerobic, fungal, mycoplasma and viral cultures over a 10 day period and results were correlated with signs and symptoms. Antifungal therapy (econazole pessaries and cream) resulted in clearance of candida from 13 out of 16 patients where there was no increase in the anaerobic flora. In the four subjects where candida was isolated along with Gardnerella vaginalis plus abnormal anaerobic flora, only one cleared with econazole, the remaining three clearing during therapy with metronidazole. In the nine subjects with Gardnerella vaginalis and abnormal anaerobic flora, metronidazole relieved symptoms despite failure to eradicate G. vaginalis in seven indicating the pathogenic role of the anaerobic flora rather then G. vaginalis. Mycoplasma hominis, Ureaplasma urealyticum and gram negative enteric bacilli were not implicated as primary agents in causing vaginitis.

Prospective ECG-gated high-pitch dual-source cardiac CT angiography in the diagnosis of congenital cardiovascular abnormalities: Radiation dose and diagnostic efficacy in a pediatric population.

PubMed

Koplay, M; Kizilca, O; Cimen, D; Sivri, M; Erdogan, H; Guvenc, O; Oc, M; Oran, B

2016-11-01

The goal of this study was to investigate the radiation dose and diagnostic efficacy of cardiac computed tomography angiography (CCTA) using prospective ECG-gated high-pitch dual-source computed tomography (DSCT) in the diagnosis of congenital cardiovascular abnormalities in pediatric population. One hundred five pediatric patients who were clinically diagnosed with congenital heart disease with suspected extracardiac vascular abnormalities were included in the study. All CCTAs were performed on a 128×2-section DSCT scanner. CCTA findings were compared with surgical and/or conventional cardiac angiography findings. Dose-length product (DLP) and effective doses (ED) were calculated for each patient. Patients were divided into 4 groups by age, and ED and DLP values were compared among groups. The image quality was evaluated using a five-point scale. CCTA showed 173 abnormalities in 105 patients. There were 2 patients with false positive and 3 with false negative findings. The sensitivity and specificity of CCTA were 98.3% and 99.9%, respectively. The positive predictive value and negative predictive value of CCT were 98.9% and 99.9%, respectively. The average DLP and ED values were 15.6±9.6 (SD) mGy.cm and 0.34±0.10 (SD) mSv, respectively. The mean image quality score was 4.8±0.5 (SD) in all patients. The inter-observer agreement for the image quality scores was good (κ=0.80). CCTA is an excellent imaging modality for evaluation of cardiovascular abnormalities and provides excellent image quality with very low radiation exposure when low-dose prospective ECG-triggered high-pitch DSCT is used. Copyright © 2016 Editions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

Genetics Home Reference: autosomal recessive congenital methemoglobinemia

MedlinePlus

... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

PubMed

Suson, K D; Inouye, B; Carl, A; Gearhart, J P

2016-08-01

Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients

Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

PubMed

Jansen, Fenna A R; Hoffer, Mariette J V; van Velzen, Christine L; Plati, Stephani Klingeman; Rijlaarsdam, Marry E B; Clur, Sally-Ann B; Blom, Nico A; Pajkrt, Eva; Bhola, Shama L; Knegt, Alida C; de Boer, Marion A; Haak, Monique C

2016-02-01

To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n = 64). We included cases with additional minor anomalies (n = 39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. In 18 of the 54 isolated left-sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person, size 10.6 kb-2.2 Mb). Our interpretation yielded clinically significant CNVs in two of 54 cases (4%) and variants of unknown significance in three other cases (6%). In left-sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left-sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis. © 2015 John Wiley & Sons, Ltd.

Endometrial cancer with congenital uterine anomalies: 3 case reports and a literature review.

PubMed

Gao, Jinping; Zhang, Jintian; Tian, Wenyan; Teng, Fei; Zhang, Huiying; Zhang, Xuhong; Wang, Yingmei; Xue, Fengxia

2017-03-04

Uterine malformation is a rare deformity in woman, and only a few cases concerning endometrial cancer arising in patients with congenital uterine anomalies have been reported. Herein, we present 3 cases of endometrial cancer with different congenital uterine anomalies, and review studies involving congenital uterine anomalies associated with endometrial cancer in the past 25 years, to identify similarities and differences in clinicopathologic characteristics and prognosis between endometrial cancer associated with uterine anomalies, and normal uterus. Case 1 was a 75-year-old gravida 1, para 0, woman with carcinosarcoma (mixed well-differentiated endometrial adenocarcinoma and undifferentiated sarcoma) of the right cavity (grade III, and at least stage II ) of a uterus didelphys. The tumor recurred within 7 months after surgery, salvage radiotherapy was unsuccessful; the patient died 8 months after the surgery. Case 2 was a 63-year-old gravida 5, para 3, woman with a bicornuate uterus and uterus papillary serous carcinoma of the right horn (grade III, stage IIIC). She did not respond to the chemotherapy post surgery and died within 4 months. Case 3 was a 60-year-old gravida 0, para 0, woman with a complete septate uterus and an oblique vaginal septum of the upper region of the vagina with endometrioid adenocarchcinoma of the left cavity (grade II, stage IA). No adjuvant therapy was administered and the patient had recovered 2 y after the surgery. Clinicians should be aware of the coexistence of uterine malignancies and uterine anomalies in patients presenting with persistent abnormal uterine bleeding, but with negative endometrial biopsy or failed in the operation of endometrial biopsy. In such cases, magnetic resonance imaging has an important role in the diagnosis of both malformation and malignancy, and an exploratory laparotomy should be performed to avoid delaying the diagnosis and treatment of cancers.

Endometrial cancer with congenital uterine anomalies: 3 case reports and a literature review

PubMed Central

Gao, Jinping; Zhang, Jintian; Tian, Wenyan; Teng, Fei; Zhang, Huiying; Zhang, Xuhong; Wang, Yingmei; Xue, Fengxia

2017-01-01

ABSTRACT Background: Uterine malformation is a rare deformity in woman, and only a few cases concerning endometrial cancer arising in patients with congenital uterine anomalies have been reported. Herein, we present 3 cases of endometrial cancer with different congenital uterine anomalies, and review studies involving congenital uterine anomalies associated with endometrial cancer in the past 25 years, to identify similarities and differences in clinicopathologic characteristics and prognosis between endometrial cancer associated with uterine anomalies, and normal uterus. Cases: Case 1 was a 75-year-old gravida 1, para 0, woman with carcinosarcoma (mixed well-differentiated endometrial adenocarcinoma and undifferentiated sarcoma) of the right cavity (grade III, and at least stage II ) of a uterus didelphys. The tumor recurred within 7 months after surgery, salvage radiotherapy was unsuccessful; the patient died 8 months after the surgery. Case 2 was a 63-year-old gravida 5, para 3, woman with a bicornuate uterus and uterus papillary serous carcinoma of the right horn (grade III, stage IIIC). She did not respond to the chemotherapy post surgery and died within 4 months. Case 3 was a 60-year-old gravida 0, para 0, woman with a complete septate uterus and an oblique vaginal septum of the upper region of the vagina with endometrioid adenocarchcinoma of the left cavity (grade II, stage IA). No adjuvant therapy was administered and the patient had recovered 2 y after the surgery. Conclusion: Clinicians should be aware of the coexistence of uterine malignancies and uterine anomalies in patients presenting with persistent abnormal uterine bleeding, but with negative endometrial biopsy or failed in the operation of endometrial biopsy. In such cases, magnetic resonance imaging has an important role in the diagnosis of both malformation and malignancy, and an exploratory laparotomy should be performed to avoid delaying the diagnosis and treatment of cancers. PMID

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

PubMed

Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

2015-01-01

The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wijesekera, N. T., E-mail: n.wijesekera@doctors.net.uk; Padley, S. P.; Kazmi, F.

2009-09-15

Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

Analysis of Vaginal Cell Populations during Experimental Vaginal Candidiasis

PubMed Central

Fidel, Paul L.; Luo, Wei; Steele, Chad; Chabain, Joseph; Baker, Marc; Wormley, Floyd

1999-01-01

Studies with an estrogen-dependent murine model of vaginal candidiasis suggest that local cell-mediated immunity (CMI) is more important than systemic CMI for protection against vaginitis. The present study, however, showed that, compared to uninfected mice, little to no change in the percentage or types of vaginal T cells occurred during a primary vaginal infection or during a secondary vaginal infection where partial protection was observed. Furthermore, depletion of polymorphonuclear leukocytes (PMN) had no effect on infection in the presence or absence of pseudoestrus. These results indicate a lack of demonstrable effects by systemic CMI or PMN against vaginitis and suggest that if local T cells are important, they are functioning without showing significant increases in numbers within the vaginal mucosa during infection. PMID:10338532

Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis.

PubMed

Bray, Jonathan James Hyett; Crosswell, Sebastien; Brown, Rick

2017-05-05

Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet. At 19 months, she failed to achieve developmental milestones and examinations revealed abnormal lower limb reflexes. A full body MRI was performed which identified the sacral agenesis. We advocate early MRI of the spine to screen for spinal defects when presented with resistant foot deformities, especially when bilateral. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Alopecia in four kittens caused by abnormal maternal licking behaviour.

PubMed

Fanton, N; Michelazzi, M; Cornegliani, L

2015-11-01

Abnormal maternal behaviour has been reported in cats, but is generally not included among the causes of alopecia in kittens. A litter of four kittens, 2 months old, was referred for evaluation of facial alopecia of differing severity. The 2-year-old queen was unaffected. Dermatological examination of the kittens did not find any infectious cause. Trichograms showed broken hair shafts with longitudinal splitting. Congenital alopecia was unlikely based on the clinical presentation. A behavioural consultation revealed abnormal grooming behaviour by the mother, who chewed and removed the hair from the kittens. The kittens were separated from the queen and alopecia resolved within a few weeks. To the authors' knowledge, this is the first report of alopecia caused by abnormal maternal licking behaviour. Abnormal maternal behaviour should be considered in cases of alopecia affecting a litter of kittens, when infectious and congenital causes have been ruled out. © 2015 Australian Veterinary Association.

Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.

PubMed

van der Linden, Vanessa; Pessoa, André; Dobyns, William; Barkovich, A James; Júnior, Hélio van der Linden; Filho, Epitacio Leite Rolim; Ribeiro, Erlane Marques; Leal, Mariana de Carvalho; Coimbra, Pablo Picasso de Araújo; Aragão, Maria de Fátima Viana Vasco; Verçosa, Islane; Ventura, Camila; Ramos, Regina Coeli; Cruz, Danielle Di Cavalcanti Sousa; Cordeiro, Marli Tenório; Mota, Vivian Maria Ribeiro; Dott, Mary; Hillard, Christina; Moore, Cynthia A

2016-12-02

Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted. All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was documented to have decelerated as early as 5 months of age, and 11 infants had microcephaly. These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. These findings support the recommendation for comprehensive medical and developmental follow-up of infants exposed to Zika virus prenatally. Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference (4).

Vaginal Toxic Shock Reaction Triggering Desquamative Inflammatory Vaginitis

PubMed Central

Pereira, Nigel; Edlind, Thomas D.; Schlievert, Patrick M.; Nyirjesy, Paul

2012-01-01

Objective To report two cases of desquamative inflammatory vaginitis (DIV) associated with toxic shock syndrome toxin-1 (TSST-1)-producing Staphylococcus aureus strains. Materials and Methods Case report of two patients, one with an acute and one with a chronic presentation, diagnosed with DIV on the basis of clinical findings and wet mount microscopy. Pre- and posttreatment vaginal bacterial and yeast cultures were obtained. Results Pretreatment vaginal bacterial cultures from both patients grew TSST-1-producing S. aureus. Subsequent vaginal bacterial cultures following oral antibiotic therapy were negative. Conclusions DIV may be triggered through TSST-1-mediated vaginal toxic shock reaction. PMID:23222054

A sonographic approach to prenatal classification of congenital spine anomalies

PubMed Central

Robertson, Meiri; Sia, Sock Bee

2015-01-01

Abstract Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five‐year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of the prenatal ultrasound images were correlated with other prenatal imaging, post mortem findings, post mortem imaging, neonatal imaging, karyotype, and other genetic workup. Data from published case reports of prenatal diagnosis of rare congenital spine anomalies were analysed to provide a comprehensive work. Results: During the study period, eighteen cases of spine abnormalities were diagnosed in 7819 women. The mean gestational age at diagnosis was 18.8w ± 2.2 SD. While most cases represented open NTD, a spectrum of vertebral abnormalities were diagnosed prenatally. These included hemivertebrae, block vertebrae, cleft or butterfly vertebrae, sacral agenesis, and a lipomeningocele. The most sensitive features for diagnosis of a spine abnormality included flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length. While reported findings at the time of diagnosis were often conservative, retrospective analysis revealed good correlation with radiographic imaging. 3D imaging was found to be a valuable tool in many settings. Conclusions: Analysis of the study findings showed prenatal ultrasound allowed detection of disruption to the normal appearances of the fetal spine. Using the three features of flaring of the vertebral arch ossification centres, abnormal spine curvature, and short spine length, an algorithm was devised to aid with the diagnosis of spine anomalies for those who perform and report prenatal ultrasound. PMID:28191204

Sialidase activity in aerobic vaginitis is equal to levels during bacterial vaginosis.

PubMed

Marconi, C; Donders, G G G; Bellen, G; Brown, D R; Parada, C M G L; Silva, M G

2013-04-01

To evaluate levels of proinflammatory cytokines and sialidase activity in aerobic vaginitis (AV) in relation to normal vaginal flora and bacterial vaginosis (BV). In this cross-sectional study, a total of 682 consecutive non-pregnant women attending the gynecology service were assessed and 408 women were included. Vaginal rinsing samples were collected from 223 women with microscopic finding of BV (n=98), aerobic vaginitis (n=25) and normal flora (n=100). Samples were tested for interleukin (IL)-1β, IL-6, IL-8, tumor necrosis factor (TNF)-α, and sialidase activity. Compared to women with normal flora, vaginal levels of IL-1β were highly increased in both BV and AV (p<0.0001). Significantly higher vaginal IL-6 was detected in AV (p<0.0001) but not in BV, in relation to normal flora. Women with AV also presented increased IL-8 levels (p<0.001), while those with BV presented levels similar to normal flora. Sialidase was increased in BV and AV compared with the normal group (p<0.0001) but no difference in sialidase activity was observed between BV and AV. A more intense inflammatory host response occurs for AV than for BV when compared with normal flora. Furthermore, the increased sialidase activity in AV and BV indicates that both abnormal vaginal flora types can be harmful to the maintenance of a healthy vaginal environment. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Vaginal Atrophy

MedlinePlus

... syndrome of menopause (GSM) increases your risk of: Vaginal infections. Changes in the acid balance of your vagina makes vaginal infections (vaginitis) more likely. Urinary problems. Urinary changes associated ...

A young Botswana patient with congenital iris ectropion uvea.

PubMed

Shifa, Jemal Zeberga; Nkomazana, Othokawa; Bekele, Negussie Alula; Kassa, Mamo Woldu

2016-01-01

Congenital iris ectropion is a rare condition; non-progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes unusual case of bilateral case of congenital iris ectropion in adult patient with pupillary abnormality, normal anterior chamber angle structure and with no evidence of glaucoma.

Spine deformities in rare congenital syndromes: clinical issues.

PubMed

Campbell, Robert M

2009-08-01

A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome. The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients. Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment. The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized. Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

PubMed Central

Kim, Jae Hyoung

2017-01-01

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. PMID:28534340

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

PubMed

Kim, Jae Hyoung; Hwang, Jeong Min

2017-06-01

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. © 2017 The Korean Ophthalmological Society.

Congenital absence of dermatoglyphs.

PubMed

Límová, M; Blacker, K L; LeBoit, P E

1993-08-01

Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus–Infected Patients in Brazil

PubMed Central

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Costa, Fabio T M

2017-01-01

Abstract Background Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. Methods We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Results Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth–associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. Conclusions This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. PMID:28838147

Congenital anomalies in Primorsky region.

PubMed

Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

Long term ocular and neurological involvement in severe congenital toxoplasmosis.

PubMed

Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

1995-06-01

This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

Long term ocular and neurological involvement in severe congenital toxoplasmosis.

PubMed Central

Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

1995-01-01

AIMS--This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS--Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS--In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. CONCLUSION--The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients. PMID:7626575

Congenital basis of posterior fossa anomalies

PubMed Central

Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

2015-01-01

The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease.

PubMed

Roche, S Lucy; Silversides, Candice K

2013-07-01

Obesity, hypertension, and coronary artery disease are prevalent in the general population and well recognized as contributors to cardiac morbidity and mortality. With surgical and medical advances, there is a growing and aging population with congenital heart disease who are also at risk of developing these comorbidities. In addition, some congenital cardiac lesions predispose patients to conditions such as hypertension or coronary artery disease. The effect of these comorbidities on the structurally abnormal heart is not well understood, but might be very important, especially in those with residual abnormalities. Thus, in addition to surveillance for and treatment of late complications it is important for the congenital cardiologist to consider and aggressively manage acquired comorbidities. In this review we explore the prevalence of hypertension, obesity, and coronary artery disease, discuss congenital lesions that predispose to these conditions and review management strategies for this unique population. Copyright © 2013 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Nd:YAG laser therapy for rectal and vaginal venous malformations.

PubMed

Gurien, Lori A; Jackson, Richard J; Kiser, Michelle M; Richter, Gresham T

2017-08-01

Limited therapeutic options exist for rectal and vaginal venous malformations (VM). We describe our center's experience using Nd:YAG laser for targeted ablation of abnormal veins to treat mucosally involved pelvic VM. Records of patients undergoing non-contact Nd:YAG laser therapy of pelvic VM at a tertiary children's hospital were reviewed. Symptoms, operative findings and details, complications, and outcomes were evaluated. Nine patients (age 0-24) underwent Nd:YAG laser therapy of rectal and/or vaginal VM. Rectal bleeding was present in all patients and vaginal bleeding in all females (n = 5). 5/7 patients had extensive pelvic involvement on MRI. Typical settings were 30 (rectum) and 20-25 W (vagina), with 0.5-1.0 s pulse duration. Patients underwent the same-day discharge. Treatment intervals ranged from 14 to 180 (average = 56) weeks, with 6.1-year mean follow-up. Five patients experienced symptom relief with a single treatment. Serial treatments managed recurrent bleeding successfully in all patients, with complete resolution of vaginal lesions in 40% of cases. No complications occurred. Nd:YAG laser treatment of rectal and vaginal VM results in substantial improvement and symptom control, with low complication risk. Given the high morbidity of surgical resection, Nd:YAG laser treatment of pelvic VM should be considered as first line therapy.

Emphysematous vaginitis.

PubMed

Lima-Silva, Joana; Vieira-Baptista, Pedro; Cavaco-Gomes, João; Maia, Tiago; Beires, Jorge

2015-04-01

Emphysematous vaginitis is a rare condition, characterized by the presence of multiple gas-filled cysts in the vaginal and/or exocervical mucosa. Although its etiology is not completely understood, it is self-limited, with a benign clinical course. Vaginal discharge, sometimes bloody, and pruritus are the most common symptoms. Chronic and acute inflammation can be found, and diseases that impair the immune system and pregnancy have been associated with this condition. A 48-year-old postmenopausal woman, with a history of hysterectomy with several comorbidities, presented with a 4-month history of bloody discharge and vulvar pruritus. Examination showed multiple cystic lesions, 1 to 5 mm, occupying the posterior and right lateral vaginal walls. Speculum examination produced crepitus. Vaginal wet mount was normal, except for diminished lactobacilli; results of Trichomonas vaginalis DNA test and vaginal cultures were negative. Lugol's iodine applied to the vagina was taken up by the intact lesions. Biopsy result showed typical features of emphysematous vaginitis. This is an unusual entity, presenting with common gynecological complaints, and both physicians and pathologists should be aware to prevent misdiagnosis and overtreatment.

Congenital aural atresia.

PubMed

Abdel-Aziz, Mosaad

2013-07-01

Congenital aural atresia is a spectrum of ear deformities present at birth that involves some degree of failure of the development of the external auditory canal. This malformation may be associated with other congenital anomalies; it occurs as a result of abnormal development of the first and second branchial arches and the first branchial cleft and most often occurs sporadically, although the disease may be manifested in different syndromes. Congenital aural atresia is considered one of the most difficult and challenging surgeries for the otologic surgeon. The goals of atresia surgery are to restore functional hearing, preferably without the requirement of a hearing aid, and to reconstruct a patent, infection-free external auditory canal. The repair is usually done at the age of 6 years, so children with bilateral atresia may need hearing amplification in the first few weeks of life until the age at surgery. To optimize the surgical outcome, careful audiological and radiological evaluation of the patient should be performed preoperatively. Also, postoperative frequent packing and regular follow-up are mandatory to avoid restenosis and infection of the newly created canal. With careful intraoperative dissection and regular follow-up, complications of surgery can be avoided.

Cross-sectional imaging of congenital and acquired abnormalities of the portal venous system

PubMed Central

Özbayrak, Mustafa; Tatlı, Servet

2016-01-01

Knowing the normal anatomy, variations, congenital and acquired pathologies of the portal venous system are important, especially when planning liver surgery and percutaneous interventional procedures. The portal venous system pathologies can be congenital such as agenesis of portal vein (PV) or can be involved by other hepatic disorders such as cirrhosis and malignancies. In this article, we present normal anatomy, variations, and acquired pathologies involving the portal venous system as seen on computed tomography (CT) and magnetic resonance imaging (MRI). PMID:27731302

Familial congenital bilateral vocal fold paralysis: a novel gene translocation.

PubMed

Hsu, Amy K; Rosow, David E; Wallerstein, Robert J; April, Max M

2015-03-01

True vocal fold (TVF) paralysis is a common cause of neonatal stridor and airway obstruction, though bilateral TVF paralysis is seen less frequently. Rare cases of familial congenital TVF paralysis have been described with implied genetic origin, but few genetic abnormalities have been discovered to date. The purpose of this study is to describe a novel chromosomal translocation responsible for congenital bilateral TVF immobility. The charts of three patients were retrospectively reviewed: a 35 year-old woman and her two children. The mother had bilateral TVF paralysis at birth requiring tracheotomy. Her oldest child had a similar presentation at birth and also required tracheotomy, while the younger child had laryngomalacia without TVF paralysis. Standard karyotype analysis was done using samples from all three patients and the parents of the mother, to assess whether a chromosomal abnormality was responsible. Karyotype analysis revealed the same balanced translocation between chromosomes 5 and 14, t(5;14) (p15.3, q11.2) in the mother and her two daughters. No other genetic abnormalities were identified. Neither maternal grandparent had the translocation, which appeared to be a spontaneous mutation in the mother with autosomal dominant inheritance and variable penetrance. A novel chromosomal translocation was identified that appears to be responsible for familial congenital bilateral TVF paralysis. While there are other reports of genetic abnormalities responsible for this condition, we believe this is the first describing this particular translocation. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Laparoscopically assisted biomaterial graft for reconstruction in congenital atresia of vagina and cervix.

PubMed

Li, MengHui; Zhang, ZhenYu

2013-12-01

To report successful treatment by laparoscopically assisted biomaterial graft for reconstruction in patients with congenital atresia of the uterine cervix and vagina. Technique and instrumentations. University-based tertiary care hospital. An 18-year-old woman with vaginal agenesis and cervical dysgenesis and a 13-year-old woman with vaginal agenesis and cervical agenesis, both patients with a functional uterus. Creation of a neovagina by vaginal procedure and laparoscopically assisted biomaterial graft for uterovaginal anastomosis was performed in all patients. All surgical findings were carefully reviewed to determine the anatomic characteristics of the malformed cervix. Subsequent follow-up was done by referring physicians. Uterovaginal continuity was established successfully in both patients, and all of the women were menstruating normally. Granulomatous polyps occurred in one patient, and this condition was successfully managed. At 6-month follow-up, mean vaginal length was 12 cm and ≥ 80% of neovaginal epithelium was iodine positive in both patients. Unimpeded menstrual flow continued after 4 years of follow-up in one patient and 5 years of follow-up in the other patient. A combined laparoscopic and vaginal procedure with biomaterial graft could be an effective alternative in selected women with atresia of cervix and vagina. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

PubMed

Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

How Does Imaging of Congenital Zika Compare with Imaging of Other TORCH Infections?

PubMed

Levine, Deborah; Jani, Jacques C; Castro-Aragon, Ilse; Cannie, Mieke

2017-12-01

The acronym TORCH is used to refer to congenital infections, such as toxoplasmosis, other infections (such as syphillis, varicella-zoster, and parvovirus B19), cytomegalovirus, and herpes simplex virus. The classic findings in patients with TORCH infections include rash in the mother during pregnancy and ocular findings in the newborn. Zika virus has emerged as an important worldwide congenital infection. It fits well with other congenital TORCH infections since there is a rash in the mother and there are commonly ocular abnormalities in the newborn. TORCH infections are recognized to have neurologic effects, such as ventriculomegaly, intraventricular adhesions, subependymal cysts, intracerebral calcifications, and microcephaly; however, the Zika virus is intensely neurotropic. Thus, it targets neural progenitor cells, leading to a more severe spectrum of central nervous system abnormalities than is typically seen in other TORCH infections, while relatively sparing the other organ systems. In this review, nonspecific findings of congenital infections initially will be described, then individual TORCH infections will be described and compared with the imaging findings associated with congenital Zika virus infection. For the radiologist, awareness of imaging features of common congenital infections may facilitate early diagnosis and may, at times, lead to prompt initiation of therapy. Online supplemental material is available for this article.

Congenital portosystemic shunt: our experience.

PubMed

Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

2015-01-01

Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

Congenital Portosystemic Shunt: Our Experience

PubMed Central

Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

2015-01-01

Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome).

PubMed

Remková, Anna; Šimková, Iveta; Valkovičová, Tatiana; Kaldarárová, Monika

2016-12-01

Patients with severe pulmonary arterial hypertension suffer from life-threatening thrombotic and bleeding complications. The aim of this study was to compare selected platelet, endothelial, and coagulation parameters in healthy volunteers and patients with severe pulmonary arterial hypertension because of congenital heart defects. The study included healthy volunteers (n = 50) and patients with cyanotic congenital heart defects classified as Eisenmenger syndrome (n = 41). We investigated platelet count, mean platelet volume, and platelet aggregation - spontaneous and induced by various concentrations of five agonists. Von Willebrand factor (vWF), fibrinogen, factor VIII and XII, plasminogen activator inhibitor, antithrombin, D-dimer, and antiphospholipid antibodies were also investigated. We found a decreased platelet count [190 (147-225) vs. 248 (205-295) 10 l, P < 0.0001], higher mean platelet volume [10.9 (10.1-12.0) vs. 10.2 (9.4-10.4) fl, P < 0.0001], and significantly decreased platelet aggregation (induced by five agonists, in various concentrations) in patients with Eisenmenger syndrome compared with controls. These changes were accompanied by an increase of plasma vWF antigen [141.6 (108.9-179.1) vs. 117.4 (9.2-140.7) IU/dl, P = 0.022] and serum anti-β2-glycoprotein [2.07 (0.71-3.41) vs. 0.47 (0.18-0.99) U/ml, P < 0.0001]. Eisenmenger syndrome is accompanied by platelet abnormalities. Thrombocytopenia with increased platelet size is probably due to a higher platelet turnover associated with platelet activation. Impaired platelet aggregation can reflect specific platelet behaviour in patients with Eisenmenger syndrome. These changes can be related both to bleeding and to thrombotic events. A higher vWF antigen may be a consequence of endothelial damage in Eisenmenger syndrome, but the cause for an increase of anti-β2-glycoprotein is unknown.

Vaginal Cancer Overview

MedlinePlus

... are here Home > Types of Cancer > Vaginal Cancer Vaginal Cancer This is Cancer.Net’s Guide to Vaginal Cancer. Use the menu below to choose the ... social workers, and patient advocates. Cancer.Net Guide Vaginal Cancer Introduction Statistics Medical Illustrations Risk Factors and ...

Vaginal Microbiomes Associated With Aerobic Vaginitis and Bacterial Vaginosis.

PubMed

Kaambo, Evelyn; Africa, Charlene; Chambuso, Ramadhani; Passmore, Jo-Ann Shelley

2018-01-01

A healthy vaginal microbiota is considered to be significant for maintaining vaginal health and preventing infections. However, certain vaginal bacterial commensal species serve an important first line of defense of the body. Any disruption of this microbial barrier might result in a number of urogenital conditions including aerobic vaginitis (AV) and bacterial vaginosis (BV). The health of the vagina is closely associated with inhabitant microbiota. Furthermore, these microbes maintain a low vaginal pH, prevent the acquisition of pathogens, stimulate or moderate the local innate immune system, and further protect against complications during pregnancies. Therefore, this review will focus on vaginal microbial "health" in the lower reproductive tract of women and on the physiological characteristics that determine the well-being of reproductive health. In addition, we explore the distinct versus shared characteristics of BV and AV, which are commonly associated with increased risk for preterm delivery.

Vaginal Microbiomes Associated With Aerobic Vaginitis and Bacterial Vaginosis

PubMed Central

Kaambo, Evelyn; Africa, Charlene; Chambuso, Ramadhani; Passmore, Jo-Ann Shelley

2018-01-01

A healthy vaginal microbiota is considered to be significant for maintaining vaginal health and preventing infections. However, certain vaginal bacterial commensal species serve an important first line of defense of the body. Any disruption of this microbial barrier might result in a number of urogenital conditions including aerobic vaginitis (AV) and bacterial vaginosis (BV). The health of the vagina is closely associated with inhabitant microbiota. Furthermore, these microbes maintain a low vaginal pH, prevent the acquisition of pathogens, stimulate or moderate the local innate immune system, and further protect against complications during pregnancies. Therefore, this review will focus on vaginal microbial “health” in the lower reproductive tract of women and on the physiological characteristics that determine the well-being of reproductive health. In addition, we explore the distinct versus shared characteristics of BV and AV, which are commonly associated with increased risk for preterm delivery. PMID:29632854

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

PubMed

Biver, A; De Rijcke, S; Toppet, V; Ledoux-Corbusier, M; Van Maldergem, L

1994-06-01

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.

Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

PubMed Central

Nederend, Ineke; Jongbloed, Monique R. M.; de Geus, Eco J. C.; Blom, Nico A.; ten Harkel, Arend D. J.

2016-01-01

Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted. PMID:29367565

Amplitude-integrated EEG in newborns with critical congenital heart disease predicts preoperative brain magnetic resonance imaging findings.

PubMed

Mulkey, Sarah B; Yap, Vivien L; Bai, Shasha; Ramakrishnaiah, Raghu H; Glasier, Charles M; Bornemeier, Renee A; Schmitz, Michael L; Bhutta, Adnan T

2015-06-01

The study aims are to evaluate cerebral background patterns using amplitude-integrated electroencephalography in newborns with critical congenital heart disease, determine if amplitude-integrated electroencephalography is predictive of preoperative brain injury, and assess the incidence of preoperative seizures. We hypothesize that amplitude-integrated electroencephalography will show abnormal background patterns in the early preoperative period in infants with congenital heart disease that have preoperative brain injury on magnetic resonance imaging. Twenty-four newborns with congenital heart disease requiring surgery at younger than 30 days of age were prospectively enrolled within the first 3 days of age at a tertiary care pediatric hospital. Infants had amplitude-integrated electroencephalography for 24 hours beginning close to birth and preoperative brain magnetic resonance imaging. The amplitude-integrated electroencephalographies were read to determine if the background pattern was normal, mildly abnormal, or severely abnormal. The presence of seizures and sleep-wake cycling were noted. The preoperative brain magnetic resonance imaging scans were used for brain injury and brain atrophy assessment. Fifteen of 24 infants had abnormal amplitude-integrated electroencephalography at 0.71 (0-2) (mean [range]) days of age. In five infants, the background pattern was severely abnormal. (burst suppression and/or continuous low voltage). Of the 15 infants with abnormal amplitude-integrated electroencephalography, 9 (60%) had brain injury. One infant with brain injury had a seizure on amplitude-integrated electroencephalography. A severely abnormal background pattern on amplitude-integrated electroencephalography was associated with brain atrophy (P = 0.03) and absent sleep-wake cycling (P = 0.022). Background cerebral activity is abnormal on amplitude-integrated electroencephalography following birth in newborns with congenital heart disease who have findings of

Fractional CO2 laser treatment for vaginal laxity: A preclinical study.

PubMed

Kwon, Tae-Rin; Kim, Jong Hwan; Seok, Joon; Kim, Jae Min; Bak, Dong-Ho; Choi, Mi-Ji; Mun, Seok Kyun; Kim, Chan Woong; Ahn, Seungwon; Kim, Beom Joon

2018-05-07

Various studies have investigated treatment for vaginal laxity with microablative fractional carbon dioxide CO 2 laser in humans; however, this treatment has not yet been studied in an animal model. Herein, we evaluate the therapeutic effects of fractional CO 2 laser for tissue remodeling of vaginal mucosa using a porcine model, with the aim of improving vaginal laxity. The fractional CO 2 laser enables minimally invasive and non-incisional procedures. By precisely controlling the laser energy pulses, energy is sent to the vaginal canal and the introitus area to induce thermal denaturation and contraction of collagen. We examined the effects of fractional CO 2 laser on a porcine model via clinical observation and ultrasound measurement. Also, thermal lesions were histologically examined via hematoxylin-eosin staining, Masson's trichrome staining, and Elastica van Gieson staining and immunohistochemistry. The three treatment groups, which were determined according to the amount of laser-energy applied (60, 90, and 120 mJ), showed slight thermal denaturation in the vaginal mucosa, but no abnormal reactions, such as excessive hemorrhaging, vesicles, or erythema, were observed. Histologically, we also confirmed that the denatured lamina propria induced by fractional CO 2 laser was dose-dependently increased after laser treatment. The treatment groups also showed an increase in collagen and elastic fibers due to neocollagenesis and angiogenesis, and the vaginal walls became firmer and tighter because of increased capillary and vessel formation. Also, use of the fractional CO 2 laser increased HSP (heat shock protein) 70 and collagen type I synthesis. Our results show that microablative fractional CO 2 laser can produce remodeling of the vaginal connective tissue without causing damage to surrounding tissue, and the process of mucosa remodeling while under wound dressings enables collagen to increase and the vaginal wall to become thick and tightened. Lasers Surg. Med

Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

PubMed

Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

2017-03-01

Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

Treatment of postmenopausal vaginal atrophy with 10-μg estradiol vaginal tablets.

PubMed

Panay, Nick; Maamari, Ricardo

2012-03-01

Postmenopausal estrogen deficiency can lead to symptoms of urogenital atrophy. Individuals with urogenital atrophy have symptoms that include vaginal dryness, vaginal and vulval irritation, vaginal soreness, pain and burning during urination (dysuria), increased vaginal discharge, vaginal odour, vaginal infections, recurrent urinary tract infections, pain associated with sexual activity (dyspareunia) and vaginal bleeding associated with sexual activity. Despite the frequency and effects of vaginal atrophy symptoms, they are often under-reported and, consequently, under-treated. Therefore, care of a menopausal woman should include a physical assessment of vaginal atrophy and a dialogue between the physician and the patient that explores existing symptoms and their effect on vulvovaginal health, sexuality and quality-of-life issues. The development of the ultra-low-dose 10-µg estradiol vaginal tablets is in line with the requirements of regulatory agencies and women's health societies regarding the use of the lowest effective hormonal dose. Because of its effectiveness and safety profiles, in addition to its minimal systemic absorption, the 10-µg estradiol vaginal tablet can offer greater reassurance to health-care providers and postmenopausal women with an annual estradiol administration of only 1.14 mg.

Specific Biomarkers Associated With Neurological Complications and Congenital Central Nervous System Abnormalities From Zika Virus-Infected Patients in Brazil.

PubMed

Kam, Yiu-Wing; Leite, Juliana Almeida; Lum, Fok-Moon; Tan, Jeslin J L; Lee, Bernett; Judice, Carla C; Teixeira, Daniel Augusto de Toledo; Andreata-Santos, Robert; Vinolo, Marco A; Angerami, Rodrigo; Resende, Mariangela Ribeiro; Freitas, Andre Ricardo Ribas; Amaral, Eliana; Junior, Renato Passini; Costa, Maria Laura; Guida, José Paulo; Arns, Clarice Weis; Ferreira, Luis Carlos S; Rénia, Laurent; Proença-Modena, Jose Luiz; Ng, Lisa F P; Costa, Fabio T M

2017-07-15

Zika virus (ZIKV) infections have been linked to different levels of clinical outcomes, ranging from mild rash and fever to severe neurological complications and congenital malformations. We investigated the clinical and immunological response, focusing on the immune mediators profile in 95 acute ZIKV-infected adult patients from Campinas, Brazil. These patients included 6 pregnant women who later delivered during the course of this study. Clinical observations were recorded during hospitalization. Levels of 45 immune mediators were quantified using multiplex microbead-based immunoassays. Whereas 11.6% of patients had neurological complications, 88.4% displayed mild disease of rash and fever. Several immune mediators were specifically higher in ZIKV-infected patients, and levels of interleukin 10, interferon gamma-induced protein 10 (IP-10), and hepatocyte growth factor differentiated between patients with or without neurological complications. Interestingly, higher levels of interleukin 22, monocyte chemoattractant protein 1, TNF-α, and IP-10 were observed in ZIKV-infected pregnant women carrying fetuses with fetal growth-associated malformations. Notably, infants with congenital central nervous system deformities had significantly higher levels of interleukin 18 and IP-10 but lower levels of hepatocyte growth factor than those without such abnormalities born to ZIKV-infected mothers. This study identified several key markers for the control of ZIKV pathogenesis. This will allow a better understanding of the molecular mechanisms of ZIKV infection in patients. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

Diagnosing congenital syphilis using Hutchinson's method: Differentiating between syphilitic, mercurial, and syphilitic-mercurial dental defects.

PubMed

Ioannou, Stella; Sassani, Sadaf; Henneberg, Maciej; Henneberg, Renata J

2016-04-01

This study focuses on the dental abnormalities observed by Sir Jonathan Hutchinson, Henry Moon and Alfred Fournier in patients with congenital syphilis and in those treated with mercury, in order to define alterations in dental morphology attributable to each of these causes. These definitions are applied to reported paleopathological cases, exploring various etiologies behind the defects, in order to aid in the diagnosis of congenital syphilis. Original works were examined for descriptions of dental abnormalities in congenital syphilis and in mercurial treatments. These descriptions were compared with dentitions of paleopathological cases (n = 4) demonstrating abnormalities attributed to congenital syphilis. Distinct morphological differences were recognized between congenital syphilitic teeth and teeth affected by mercury. Mercury produces a pronounced deficiency in enamel of incisors, canines and first permanent molars that become rugged and pitted, and of dirty grey honeycombed appearance. Mercury-induced dental changes are evident in three out of four cases studied here. In one case, only syphilitic changes were present. Dental changes in congenital syphilis range from no visible signs to those beyond the classical models of Hutchinson, Moon and Fournier. Treatment of neonates and infants with mercury produces additional changes. Signs of disease and treatment with mercury on teeth may occur together; permanent incisors, first molars and canines, are typically affected, premolars and second/third molars are usually spared. Signs of treatment with mercury might be the only evidence of the occurrence of the disease as mercury was rarely used to treat other diseases. © 2015 Wiley Periodicals, Inc.

[Trend of mortality of congenital malformation in children aged <5 years in Beijing, 2006-2015].

PubMed

Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J

2017-01-10

Objective: To investigate the change in mortality of congenital malformation in children aged <5 years in Beijing from 2006 to 2015. Methods: Using the death surveillance data in children aged <5 years in Beijing from 2006 to 2015, which was collected from the real-time surveillance network, we calculated the area and age distributions of the mortality of congenital malformation in children aged <5 years in Beijing. Meanwhile, the variations of age, time and space in the causes of deaths were discussed. Results: The mortality rate of congenital malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17 % . The decrease rate was highest in neonates (71.50 % ) ( χ (2)=57.993, P <0.01). Expect urban area ( χ (2)=3.384, P >0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area ( χ (2) =40.637 and 50.646, P <0.01). The proportion of the children died of congenital malformation decreased from 32.97 % in 2006 to 23.24 % in 2015, which mainly occurred in infancy and neonatal period ( χ (2)=9.395 and 4.354, P <0.05). The constituent ratios of the children died of neural tube defects, respiratory system abnormalities and other abnormalities decreased significantly ( χ (2)=13.478, 7.358, 7.912 and 10.074, P <0.01). The constituent ratios of children died of chromosomal abnormality, multiple malformations and digestive tract abnormality didn' t decreased significantly ( P >0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously ( χ (2)=70.868, 18.431 and 9.225, P <0.01), except biliary atresia ( χ (2)= 1.407, P >0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease.

PubMed

Xia, Yu; Yang, Yongchao; Huang, Shufang; Wu, Yueheng; Li, Ping; Zhuang, Jian

2018-03-24

This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). One hundred and ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs, and 83 were complex CHDs. Chromosomal microarray analysis was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by quantitative PCR. Chromosomal microarray analysis identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21. Pathogenic CNVs were detected in 15.5% (17/110) of the fetuses with CHDs, including 13 cases with CHD-associated CNVs. We further identified 10 genes as likely novel CHD candidate genes through gene functional enrichment analysis. We also found that pathogenic CMA results impacted the rate of pregnancy termination. This study shows that CMA is particularly effective for identifying chromosomal abnormalities and CNVs in fetuses with CHDs as well as having an effect on obstetrical outcomes. The elucidation of the genetic basis of CHDs will continue to expand our understanding of the etiology of CHDs. © 2018 John Wiley & Sons, Ltd.

Congenital Anomalies of the Hand--Principles of Management.

PubMed

Little, Kevin J; Cornwall, Roger

2016-01-01

Physicians who specialize in pediatric orthopedics and hand surgery frequently encounter congenital hand abnormalities, despite their relative rarity. The treating physician should be aware of the associated syndromes and malformations that may, in some cases, be fatal if not recognized and treated appropriately. Although these congenital disorders have a wide variability, their treatment principles are similar in that the physician should promote functional use and cosmesis for the hand. This article discusses syndactyly, preaxial polydactyly and post-axial polydactyly, and the hypoplastic thumb. Copyright © 2016 Elsevier Inc. All rights reserved.

Hysterectomy - vaginal - discharge

MedlinePlus

Vaginal hysterectomy - discharge; Laparoscopically assisted vaginal hysterectomy - discharge; LAVH - discharge ... you were in the hospital, you had a vaginal hysterectomy. Your surgeon made a cut in your ...

[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

PubMed

Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

2015-07-01

To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively. Many fetal malformations identified at ultrasound are suggestive of

Vaginal foreign bodies.

PubMed

Stricker, T; Navratil, F; Sennhauser, F H

2004-04-01

To evaluate the clinical features and outcome in girls with a vaginal foreign body. Retrospective review of medical records of 35 girls with a vaginal foreign body seen in an outpatient clinic for paediatric and adolescent gynaecology between 1980 and 2000. The ages ranged from 2.6 to 9.2 years. The most common symptom was blood-stained vaginal discharge/vaginal bleeding (49%). Duration of symptoms varied from 1 day to 2 years. Fifty-four percent of the patients recalled insertion of the foreign object, usually by the girl herself. All but three patients (91%) either recalled insertion of the foreign object and/or had vaginal bleeding or blood-stained or foul-smelling vaginal discharge, and/or visualization or palpation of the foreign body in physical examination. Symptoms resolved after removal of the foreign body followed by a single irrigation with Providon-Iod (Betadine). In the majority of patients a carefully obtained history and physical examination suggest the diagnosis of a vaginal foreign object. The leading symptoms are vaginal bleeding and blood-stained or foul smelling vaginal discharge. Removal of the foreign object followed by a single irrigation with Providon-Iod is the definitive treatment and does not require additional measures.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report

PubMed Central

2014-01-01

Background Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Case presentation Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. Conclusion This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis. PMID:24674575

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

PubMed

Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

2014-03-28

Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Clinical characteristics of aerobic vaginitis and its association to vaginal candidiasis, trichomonas vaginitis and bacterial vaginosis.

PubMed

Jahic, Mahira; Mulavdic, Mirsada; Nurkic, Jasmina; Jahic, Elmir; Nurkic, Midhat

2013-12-01

Examine clinical characteristics of aerobic vaginitis and mixed infection for the purpose of better diagnostic accuracy and treatment efficiency. Prospective research has been conducted at Clinic for Gynecology and Obstetrics, Department for Microbiology and Pathology at Polyclinic for laboratory diagnostic and Gynecology and Obstetrics Department at Health Center Sapna. Examination included 100 examinees with the signs of vaginitis. anamnesis, clinical, gynecological and microbiological examination of vaginal smear. The average age of the examinees was 32,62±2,6. Examining vaginal smears of the examinees with signs of vaginitis in 96% (N-96) different microorganisms have been isolated, while in 4% (N-4) findings were normal. AV has been found in 51% (N-51) of the examinees, Candida albicans in 17% (N-17), BV in 15% (N-15), Trichomonas vaginalis in 13% (N-13). In 21% (N-21) AV was diagnosed alone while associated with other agents in 30% (N-30). Most common causes of AV are E. coli (N-55) and E. faecalis (N-52). AV and Candida albicanis have been found in (13/30, 43%), Trichomonas vaginalis in (9/30, 30%) and BV (8/30, 26%). Vaginal secretion is in 70,05% (N-36) yellow coloured, red vagina wall is recorded in 31,13% (N-16) and pruritus in 72,54% (N-37). Increased pH value of vagina found in 94,10% (N-48). The average pH value of vaginal environment was 5,15±0,54 and in associated presence of AV and VVC, TV and BV was 5,29±0,56 which is higher value considering presence of AV alone but that is not statistically significant difference (p>0,05). Amino-odor test was positive in 29,94% (N-15) of associated infections. Lactobacilli are absent, while leukocytes are increased in 100% (N-51) of the examinees with AV. AV is vaginal infection similar to other vaginal infections. It is important to be careful while diagnosing because the treatment of AV differentiates from treatment of other vaginitis.

Congenital hearing loss

PubMed Central

Korver, Anna M. H.; Smith, Richard J. H.; Van Camp, Guy; Schleiss, Mark R.; Bitner-Glindzicz, Maria A. K.; Lustig, Lawrence R.; Usami, Shin-ichi; Boudewyns, An N.

2017-01-01

Congenital hearing loss (hearing loss present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing-screening programmes enable early detection; early intervention will prevent delays in speech and language development and have long-lasting beneficial effects on social and emotional development and quality of life. A hearing loss diagnosis is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision-making and guide prevention and (genetic) counseling. Management options include specific antimicrobial therapies, surgical treatment of cranio-facial abnormalities and hearing aids. An improved understanding of the pathophysiology and molecular mechanisms underlying hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies. PMID:28079113

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

PubMed

Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

2008-12-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

Brain Injury in Neonates with Complex Congenital Heart Disease: What Is the Predictive Value of MRI in the Fetal Period?

PubMed

Brossard-Racine, M; du Plessis, A; Vezina, G; Robertson, R; Donofrio, M; Tworetzky, W; Limperopoulos, C

2016-07-01

Brain injury in neonates with congenital heart disease is an important predictor of adverse neurodevelopmental outcome. Impaired brain development in congenital heart disease may have a prenatal origin, but the sensitivity and specificity of fetal brain MR imaging for predicting neonatal brain lesions are currently unknown. We sought to determine the value of conventional fetal MR imaging for predicting abnormal findings on neonatal preoperative MR imaging in neonates with complex congenital heart disease. MR imaging studies were performed in 103 fetuses with confirmed congenital heart disease (mean gestational age, 31.57 ± 3.86 weeks) and were repeated postnatally before cardiac surgery (mean age, 6.8 ± 12.2 days). Each MR imaging study was read by a pediatric neuroradiologist. Brain abnormalities were detected in 17/103 (16%) fetuses by fetal MR imaging and in 33/103 (32%) neonates by neonatal MR imaging. Only 9/33 studies with abnormal neonatal findings were preceded by abnormal findings on fetal MR imaging. The sensitivity and specificity of conventional fetal brain MR imaging for predicting neonatal brain abnormalities were 27% and 89%, respectively. Brain abnormalities detected by in utero MR imaging in fetuses with congenital heart disease are associated with higher risk of postnatal preoperative brain injury. However, a substantial proportion of anomalies on postnatal MR imaging were not present on fetal MR imaging; this result is likely due to the limitations of conventional fetal MR imaging and the emergence of new lesions that occurred after the fetal studies. Postnatal brain MR imaging studies are needed to confirm the presence of injury before open heart surgery. © 2016 by American Journal of Neuroradiology.

Severe ocular sequelae of congenital toxoplasmosis: huge macular scar.

PubMed

Zahir, Fadoua; Abdellaoui, Meriem; Younes, Samar; Benatiya, Idriss A; Tahri, Hicham

2015-01-01

Retinochoroiditis is the most common ocular manifestation of congenital toxoplasmosis, but other associated ophthalmological pathologies can also occur. Ophthalmologists are rarely able to distinguish between toxoplasmic retinochoroiditis due to infection acquired before or after birth, unless other clinical or serological indications are present. This article reports a case of a 3-year-old boy with abnormalities suggestive of congenital toxoplasmosis. The clinical and complementary examinations are discussed. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

Value of bacterial culture of vaginal swabs in diagnosis of vaginal infections.

PubMed

Nenadić, Dane; Pavlović, Miloš D

2015-06-01

Vaginal and cervical swab culture is still very common procedure in our country's everyday practice whereas simple and rapid diagnostic methods have been very rarely used. The aim of this study was to show that the employment of simple and rapid diagnostic tools [vaginal fluid wet mount microscopy (VFWMM), vaginal pH and potassium hydroxide (KOH) test] offers better assessment of vaginal environment than standard microbiologic culture commonly used in Serbia. This prospective study included 505 asymptomatic pregnant women undergoing VFWMM, test with 10% KOH, determination of vaginal pH and standard culture of cervicovaginal swabs. Combining findings from the procedures was used to make diagnoses of bacterial vaginosis (BV) and vaginitis. In addition, the number of polymorphonuclear leukocytes (PMN) was determined in each sample and analyzed along with other findings. Infections with Candida albicans and Trichomonas vaginalis were confirmed or excluded by microscopic examination. In 36 (6%) patients cervicovaginal swab cultures retrieved several aerobes and facultative anaerobes, whereas in 52 (11%) women Candida albicans was isolated. Based on VFWMM findings and clinical criteria 96 (19%) women had BV, 19 (4%) vaginitis, and 72 (14%) candidiasis. Of 115 women with BV and vaginitis, pH 4.5 was found in 5, and of 390 with normal findings 83 (21%) had vaginal pH 4.5. Elevated numbers of PMN were found in 154 (30%) women--in 83 (54%) of them VFWMM was normal. Specificity and sensitivity of KOH test and vaginal pH determination in defining pathological vaginal flora were 95% and 81%, and 79% and 91%, respectively. Cervicovaginal swab culture is expensive but almost non-informative test in clinical practice. The use of simpler and rapid methods as vaginal fluid wet mount microscopy, KOH test and vaginal pH offers better results in diagnosis, and probably in the treatment and prevention of sequels of vaginal infections.

Vaginal candidiasis and its risk factors among women attending a Nigerian teaching hospital.

PubMed

Nwadioha, S I; Nwokedi, E O P; Egesie, J; Enejuo, H

2013-03-01

The study was set to detect Candida species in female genital discharge and validate the associated risk factors. A prospective study of female genital swabs collected from women with abnormal vaginal discharge (test group) and a control group who were attending gynaecology, family planning, antenatal care or HIV/STI clinics of Aminu Kano Teaching Hospital, Kano Nigeria and analysed for microscopy and culture in microbiology laboratory from December 2008 to December 2009. Data on epidemiologic indices were collected from the patients, using structured interviewer- administered questionnaires. Candida species were detected in the test group in 60% (n=600/1000) cases of infective vaginal discharge while 12% (120/1000) in the control group. The isolation rate of Candida albicans was 69% more than the non- albicans. Distribution of vaginal candidiasis in the test group, was prevalent in young adults age group of 21 to 30 years with 50% (n=300/600), in patients with pregnancy 38% (n=225/600) and patients with chronically debilitating illnesses 26% (n=157/600). The result shows that vaginal candidiasis is quite common and Candida albicans is the most prevalent species. We therefore recommend early diagnosis and prompt treatment of vaginal candidiasis in all women clinics especially among the patients with chronic debilitating illness, pregnancy and young adults in order to avert the complications of vaginal candidiasis and reduce HIV transmission.

Diagnosis and microecological characteristics of aerobic vaginitis in outpatients based on preformed enzymes.

PubMed

Wang, Zhi-Liang; Fu, Lan-Yong; Xiong, Zheng-Ai; Qin, Qin; Yu, Teng-Hua; Wu, Yu-Tong; Hua, Yuan-Yuan; Zhang, Yong-Hong

2016-02-01

Aerobic vaginitis (AV) is a recently proposed term for genital tract infection in women. The diagnosis of AV is mainly based on descriptive diagnostic criteria proposed by Donders and co-workers. The objective of this study is to report AV prevalence in southwest China using an objective assay kit based on preformed enzymes and also to determine its characteristics. A total of 1948 outpatients were enrolled and tested by a commercial diagnostic kit to investigate the AV prevalence and characteristics in southwestern China. The study mainly examined the vaginal ecosystem, age distribution, Lactobacillus amount, and changes in pH. Differences within groups were analyzed by Wilcoxon two-sample test. The AV detection rate is 15.40%. The AV patients were usually seen in the sexually active age group of 20-30 years, followed by those in the age group of 30-40 years. The vaginal ecosystems of all the patients studied were absolutely abnormal, and diagnosed to have a combined infection [aerobic vaginitis (AV) + bacterial vaginitis (BV) 61.33%; 184/300]. Aerobic bacteria, especially Staphylococcus aureus and Escherichia coli, were predominantly found in the vaginal samples of these women. AV is a common type of genital infection in southwestern China and is characterized by sexually active age and combined infection predominated by the AV and BV type. Copyright © 2016. Published by Elsevier B.V.

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

PubMed Central

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Congenital cataracts and other abnormalities in a female with 46.X, del(X)(q26q28)mat: A new locus for X-linked congenital cataract?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Babul, R.; Chitayat, D.; Teshima, I.

1994-09-01

Three forms of X-linked congenital cataracts have been delineated: congenital cataract with posterior Y-sutural opacities in heterozygotes, congenital cataract and microcornea or microphthalmia and congenital cataract-dental syndrome (Nance-Horan syndrome). Of these, only the Nance-Horan syndrome has been mapped to Xp22.3-p21.1. However, Warburg has suggested that these different forms of X-linked congenital cataracts are due to deletions of varying sizes, placing them in the vicinity of the Nance-Horan syndrome region. We report on a female patient born to a 29-year-old primigravida woman who at birth was found to have hypotonia, dysmorphic facial features, hydrocephalus and dense white congenital bilateral cataracts. Othermore » ophthalmological findings included bilateral nystagmus and shallow orbits. Chromosome analysis revealed 46,X,del(X)(q26q28)mat. The mother, however, is phenotypically normal. Brain CT scan on the female infant revealed communicating hydrocephalus and a muscle biopsy showed congenital muscle fiber disproportion. An EMG and NCV were normal. At 4 years of age, her height and weight were below -3SD and her OFC was +2SD. Molecular studies using DNA markers located in Xq26-qter have revealed that the proximal breakpoint in the patient and her mother is defined by the HPRT locus while the distal breakpoint is defined by the locus DXS1108. This indicates that the deletion is not terminal but rather interstitial, retaining sequences proximal to the telomeric region. Other molecular studies are in progress to determine the X-inactivation status of the deleted chromosome in our patient and her mother as a possible explanation for the variation in the phenotype. These clinical and molecular findings suggest that another locus for X-linked congenital cataract exists at Xq26-28.« less

Congenital portosystemic vascular malformations.

PubMed

Guérin, Florent; Blanc, Thomas; Gauthier, Frédéric; Abella, Stephanie Franchi; Branchereau, Sophie

2012-08-01

Congenital portosystemic shunts are developmental abnormalities of the portal venous system resulting in the diversion of portal blood away from the liver to the systemic venous system. Such malformations are believed to come from an insult occurring between the fourth and eighth week of gestation during the development of hepatic and systemic venous systems, and could explain their frequent association with cardiac and other vascular anomalies. They are currently categorized into end-to-side shunts (type I) or side-to-side shunts (type II). This article aims to review the common symptoms and complications encountered in congenital portosystemic shunts, the surgical and endovascular treatment, and the role of liver transplantation in this disease. We will also focus on the current controversies and the areas where there is potential for future studies. Copyright © 2012. Published by Elsevier Inc.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

PubMed

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Bacterial flora in abnormalities of the female genital tract

PubMed Central

Gordon, A. M.; Hughes, H. E.; Barr, G. T. D.

1966-01-01

The bacterial flora associated with certain common abnormalities of the female genital tract were studied. The abnormalities included were trichomonal infestation of the vagina, the epithelial inflammation and cellular atypia associated with protozoal infestation, and erosions of the cervix. Trichomonas vaginalis infestation and marked epithelial inflammation were associated with a very varied bacterial flora in which Mycoplasma species, streptococci, and `Haemophilus vaginalis' (Gardner and Dukes, 1955) were often prominent. No cases of vaginitis attributable to Haemophilus vaginalis were detected. An essentially normal bacterial flora accompanied erosions of the cervix. PMID:5919354

Vaginal yeast infection

MedlinePlus

Yeast infection - vagina; Vaginal candidiasis; Monilial vaginitis ... Most women have a vaginal yeast infection at some time. Candida albicans is a common type of fungus. It is often found in small amounts in the ...

[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].

PubMed

Tatsumi, K; Amino, N; Miyai, K

1993-05-01

Congenital pituitary hypothyroidism (pituitary cretinism) results in severe mental and growth retardation when it is not treated soon after birth. Since the introduction of neonatal mass screening of thyrotropin (TSH), most congenital hypothyroidism has been detected except for pituitary and hypothalamic hypothyroidism. In 1971, we reported the first familial case of congenital isolated TSH deficiency and thereafter began intensively investigating the molecular pathology of congenital pituitary hypothyroidism. After determining the entire structure of the human TSH beta gene, we identified the molecular pathology in this patient. Recently, we reported a familial case of congenital combined pituitary hormone deficiency (PIT1 abnormality). To examine the PIT1 gene, which encodes pituitary specific transcription factor, Pit-1/GHF-1, we determined its genomic structure. Sequence comparisons using PCR amplified PIT1 gene sequences revealed only one nonsense mutation in the patient, and established that this alteration caused the combined deficiencies of TSH, GH and PRL. We also discuss other recent progress in molecular pathology of congenital pituitary hypothyroidism.

Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina

PubMed Central

Larkins, Christine E.; Enriquez, Ana B.; Cohn, Martin J.

2016-01-01

Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra. In females, the sinus ridge descends posteriorly to allow the vaginal opening to form in the vulva, whereas in males and in females with CAH, androgens inhibit descent of the sinus ridge. The mechanisms that regulate development of the female urethra and vagina are largely unknown. Here we show that the timing and duration of, and the cell population targeted by, androgen signaling determine the position of vaginal attachment to the urethra. Manipulations of androgen signaling in utero reveal a temporal window of development when sinus ridge fate is determined. Cell type-specific genetic deletions of androgen receptor (Ar) identify a subpopulation of mesenchymal cells that regulate sinus ridge morphogenesis. These results reveal a common mechanism that coordinates development of the vagina and feminization of the urethra, which may account for development of a single urogenital sinus in females exposed to excessive androgen during a critical period of prenatal development. PMID:27821748

Spatiotemporal dynamics of androgen signaling underlie sexual differentiation and congenital malformations of the urethra and vagina.

PubMed

Larkins, Christine E; Enriquez, Ana B; Cohn, Martin J

2016-11-22

Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra. In females, the sinus ridge descends posteriorly to allow the vaginal opening to form in the vulva, whereas in males and in females with CAH, androgens inhibit descent of the sinus ridge. The mechanisms that regulate development of the female urethra and vagina are largely unknown. Here we show that the timing and duration of, and the cell population targeted by, androgen signaling determine the position of vaginal attachment to the urethra. Manipulations of androgen signaling in utero reveal a temporal window of development when sinus ridge fate is determined. Cell type-specific genetic deletions of androgen receptor (Ar) identify a subpopulation of mesenchymal cells that regulate sinus ridge morphogenesis. These results reveal a common mechanism that coordinates development of the vagina and feminization of the urethra, which may account for development of a single urogenital sinus in females exposed to excessive androgen during a critical period of prenatal development.

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

PubMed

Melzer, Jonathan M; Eliason, Michael; Conley, George S

2016-04-01

Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Clinical Characteristics of Aerobic Vaginitis and Its Association to Vaginal Candidiasis, Trichomonas Vaginitis and Bacterial Vaginosis

PubMed Central

Jahic, Mahira; Mulavdic, Mirsada; Nurkic, Jasmina; Jahic, Elmir; Nurkic, Midhat

2013-01-01

ABSTRACT Aim of the work: Examine clinical characteristics of aerobic vaginitis and mixed infection for the purpose of better diagnostic accuracy and treatment efficiency. Materials and methods: Prospective research has been conducted at Clinic for Gynecology and Obstetrics, Department for Microbiology and Pathology at Polyclinic for laboratory diagnostic and Gynecology and Obstetrics Department at Health Center Sapna. Examination included 100 examinees with the signs of vaginitis. Examination consisted of: anamnesis, clinical, gynecological and microbiological examination of vaginal smear. Results: The average age of the examinees was 32,62±2,6. Examining vaginal smears of the examinees with signs of vaginitis in 96% (N-96) different microorganisms have been isolated, while in 4% (N-4) findings were normal. AV has been found in 51% (N-51) of the examinees, Candida albicans in 17% (N-17), BV in 15% (N-15), Trichomonas vaginalis in 13% (N-13). In 21% (N-21) AV was diagnosed alone while associated with other agents in 30% (N-30). Most common causes of AV are E. coli (N-55) and E. faecalis (N-52). AV and Candida albicanis have been found in (13/30, 43%), Trichomonas vaginalis in (9/30, 30%) and BV (8/30, 26%). Vaginal secretion is in 70,05% (N-36) yellow coloured, red vagina wall is recorded in 31,13% (N-16) and pruritus in 72,54% (N-37). Increased pH value of vagina found in 94,10% (N-48). The average pH value of vaginal environment was 5,15±0,54 and in associated presence of AV and VVC, TV and BV was 5,29±0,56 which is higher value considering presence of AV alone but that is not statistically significant difference (p>0,05). Amino-odor test was positive in 29,94% (N-15) of associated infections. Lactobacilli are absent, while leukocytes are increased in 100% (N-51) of the examinees with AV. Conclusion: AV is vaginal infection similar to other vaginal infections. It is important to be careful while diagnosing because the treatment of AV differentiates from

Accuracy of the clinical diagnosis of vaginitis compared with a DNA probe laboratory standard.

PubMed

Lowe, Nancy K; Neal, Jeremy L; Ryan-Wenger, Nancy A

2009-01-01

To estimate the accuracy of the clinical diagnosis of the three most common causes of acute vulvovaginal symptoms (bacterial vaginosis, candidiasis vaginitis, and trichomoniasis vaginalis) using a traditional, standardized clinical diagnostic protocol compared with a DNA probe laboratory standard. This prospective clinical comparative study had a sample of 535 active-duty United States military women presenting with vulvovaginal symptoms. Clinical diagnoses were made by research staff using a standardized protocol of history, physical examination including pelvic examination, determination of vaginal pH, vaginal fluid amines test, and wet-prep microscopy. Vaginal fluid samples were obtained for DNA analysis. The research clinicians were blinded to the DNA results. The participants described a presenting symptom of abnormal discharge (50%), itching/irritation (33%), malodor (10%), burning (4%), or others such as vulvar pain and vaginal discomfort. According to laboratory standard, there were 225 cases (42%) of bacterial vaginosis, 76 cases (14%) of candidiasis vaginitis, 8 cases (1.5%) of trichomoniasis vaginalis, 87 cases of mixed infections (16%), and 139 negative cases (26%). For each single infection, the clinical diagnosis had a sensitivity and specificity of 80.8% and 70.0% for bacterial vaginosis, 83.8% and 84.8% for candidiasis vaginitis, and 84.6% and 99.6% for trichomoniasis vaginalis when compared with the DNA probe standard. Compared with a DNA probe standard, clinical diagnosis is 81-85% sensitive and 70-99% specific for bacterial vaginosis, Candida vaginitis, and trichomoniasis. Even under research conditions that provided clinicians with sufficient time and materials to conduct a thorough and standardized clinical evaluation, the diagnosis and, therefore, subsequent treatment of these common vaginal problems remains difficult. II.

Use of lactobacilli and estriol combination in the treatment of disturbed vaginal ecosystem: a review

PubMed Central

Ünlü, Cihat; Donders, Gilbert

2011-01-01

To maintain a healthy vaginal ecosystem or to restore any disturbance, sufficient estrogen levels, an intact mature vaginal epithelium, and physiological lactobacillary microflora are essential. Thus, a combination of beneficial lactobacilli and estrogen is an appealing treatment option. This article reviews the published data on the use of viable Lactobacillus acidophilus KS400 and a low dose of estriol (0.03 mg E3) in the form of vaginal tablets (Gynoflor®). In vitro studies demonstrated that L. acidophilus KS400 produces lactic acid and hydrogen peroxide (H2O2), inhibits the growth of relevant vaginal pathogens, and inhibits adherence of pathogens to epithelial cells. Topical administration of E3 for treatment of vaginal diseases is generally preferred, as this route of application of hormones produces a more significant local proliferative response and has no stimulating effect on the endometrium. Overall, 16 clinical studies have been published with the combination of L. acidophilus KS400 and 0.03 mg E3. The results of these trials have demonstrated that the combination improves the vaginal epithelium and the restoration of the lactobacillary microflora with an excellent safety profile, even during pregnancy. The combination can be used in pre- and postmenopausal women for the restoration of the vaginal flora after anti-infective therapy, for treatment of symptomatic vaginal atrophy, and for abnormal vaginal flora therapy. It can be also considered in repetitive therapy courses for the long-term prevention of recurrences of bacterial vaginosis, even though further clinical studies are needed to substantiate the benefit of this application. PMID:24592002

Congenital radial and thumb aplasia in a neonatal owl monkey (Aotus nancymaae).

PubMed

Schuler, Anne Michele; Gibson, Susan V; Brady, Alan G; Abee, Christian R; Scammell, Jonathan G

2007-09-01

This report describes congenital radial and thumb aplasia in a neonatal owl monkey. Congenital limb deformities in human neonates and Old World primate species have been well characterized. The many probable causes of these congenital defects in skeletal structure include fetal exposure to environmental toxins and genetic influences. In nonhuman primates, the cause frequently remains undetermined. In the case we present, the neonate presented for examination because of inability to cling to the dam. The forelimbs were contracted distally, and thumbs were absent. Radiographs indicated complete radial aplasia and other skeletal abnormalities. This description is the fi rst case study of congenital radial and thumb aplasia in a New World primate species.

De novo pericentric inversion of chromosome 9 in congenital anomaly.

PubMed

Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

2010-09-01

The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

Yeast Infection (Vaginal)

MedlinePlus

Yeast infection (vaginal) Overview A vaginal yeast infection is a fungal infection that causes irritation, discharge and intense itchiness ... symptoms Causes The fungus candida causes a vaginal yeast infection. Your vagina naturally contains a balanced mix of yeast, including ...

The clinical anatomy of congenital portosystemic venous shunts.

PubMed

Stringer, Mark D

2008-03-01

Congenital portosystemic venous shunts are rare. Their gross anatomy has not been well defined. Four different varieties of congenital portosystemic venous shunts are described in six children seen during a 10-year period, focusing on the anatomy of the shunt as determined by imaging studies and surgery. A detailed review of the literature indicates that congenital portosystemic venous shunts are best classified as: extrahepatic or intrahepatic. Extrahepatic shunts may be further subdivided into portocaval shunts (type 1 end-to-side and type 2 side-to-side) and others. Intrahepatic shunts are due to an abnormal intrahepatic connection between the portal vein and hepatic vein/inferior vena cava or a persistent patent ductus venosus. Additional congenital anomalies, particularly cardiac malformations, may be associated with any type. Some congenital intrahepatic portosystemic venous shunts close spontaneously in infancy; all other congenital portosystemic venous shunts tend to remain patent. To a variable extent, depending largely on the volume and duration of the shunt, affected individuals are at risk of developing hepatic encephalopathy and/or an intrahepatic tumor. The key to understanding the pathogenesis of these shunts lies in the normal developmental mechanisms underlying the formation of the portal vein and inferior vena cava in the embryo. Copyright 2008 Wiley-Liss, Inc.

Chlamydial infection in a high risk population: association with vaginal flora patterns.

PubMed

Marconi, Camila; Donders, Gilbert G G; Martin, Laura F; Ramos, Bruna R A; Duarte, Marli T C; Parada, Cristina M G L; Tristão, Andréa R; Silva, Márcia G

2012-04-01

This study aimed to determine the frequency of Chlamydia trachomatis (CT) infection among high risk Brazilian women and evaluate its association with vaginal flora patterns. This was a cross-sectional study, performed in an outpatient clinic of Bauru State Hospital, São Paulo, Brazil. A total of 142 women were included from 2006 to 2008. Inclusion criteria was dyspareunia, pain during bimanual exam, presence of excessive cervical mucus, cervical ectopy or with three or more episodes of abnormal vaginal flora (AVF) in the previous year before enrollment. Endocervical CT testing was performed by PCR. Vaginal swabs were collected for microscopic assessment of the microbial flora pattern. Gram-stained smears were classified in normal, intermediate or bacterial vaginosis (BV), and recognition of Candida sp. morphotypes. Wet mount smears were used for detection of Trichomonas vaginalis and aerobic vaginitis (AV). Thirty-four of 142 women (23.9%) tested positive for CT. AVF was found in 50 (35.2%) cases. The most frequent type of AVF was BV (17.6%). CT was strongly associated with the presence of AV (n = 7, 4.9%, P = 0.018), but not BV (n = 25, 17.6%, P = 0.80) or intermediate flora (n = 18, 12.7%, P = 0.28). A high rate of chlamydial infection was found in this population. Chlamydia infection is associated with aerobic vaginitis.

Protection against rat vaginal candidiasis by adoptive transfer of vaginal B lymphocytes.

PubMed

De Bernardis, Flavia; Santoni, Giorgio; Boccanera, Maria; Lucciarini, Roberta; Arancia, Silvia; Sandini, Silvia; Amantini, Consuelo; Cassone, Antonio

2010-06-01

Vulvovaginal candidiasis is a mucosal infection affecting many women, but the immune mechanisms operating against Candida albicans at the mucosal level remain unknown. A rat model was employed to further characterize the contribution of B and T cells to anti-Candida vaginal protection. Particularly, the protective role of vaginal B cells was studied by means of adoptive transfer of vaginal CD3(-) CD5(+) IgM(+) cells from Candida-immunized rats to naïve animals. This passive transfer of B cells resulted into a number of vaginal C. albicans CFU approximately 50% lower than their controls. Sorted CD3(-) CD5(+) IgM(+) vaginal B lymphocytes from Candida-infected rats proliferated in response to stimulation with an immunodominant mannoprotein (MP) antigen of the fungus. Importantly, anti-MP antibodies and antibody-secreting B cells were detected in the supernatant and cell cultures, respectively, of vaginal B lymphocytes from infected rats incubated in vitro with vaginal T cells and stimulated with MP. No such specific antibodies were found when using vaginal B cells from uninfected rats. Furthermore, inflammatory and anti-inflammatory cytokines, such as interleukin-2 (IL-2), IL-6 and IL-10, were found in the supernatant of vaginal B cells from infected rats. These data are evidence of a partial anti-Candida protective role of CD3(-) CD5(+) IgM(+) vaginal B lymphocytes in our experimental model.

Cytomegalovirus urinary excretion and long term outcome in children with congenital cytomegalovirus infection. Congenital CMV Longitudinal Study Group.

PubMed

Noyola, D E; Demmler, G J; Williamson, W D; Griesser, C; Sellers, S; Llorente, A; Littman, T; Williams, S; Jarrett, L; Yow, M D

2000-06-01

Cytomegalovirus (CMV) is the most frequent cause of congenital infection, and both symptomatic and asymptomatic infants may have long term sequelae. Children with congenital CMV infection are chronically infected and excrete CMV in the urine for prolonged periods. However, the effect of prolonged viral replication on the long term outcome of these children is unknown. To determine whether duration of CMV excretion is associated with outcome at 6 years of life in symptomatic and asymptomatic congenitally infected children. Longitudinal cohort study. Children congenitally infected with CMV were identified at birth and followed prospectively in a study of long term effects of congenital CMV infection. The relationship between duration of CMV urinary excretion and growth, neurodevelopment and presence and progression of sensorineural hearing loss (SNHL) at 6 years of age was determined. There was no significant difference in the duration of viral urinary excretion between children born with asymptomatic (median, 4.55 years) and symptomatic (median, 2.97 years) congenital CMV infection (P = 0.11). Furthermore there was no association between long term growth or cognitive outcome and duration of viral excretion. However, a significantly greater proportion of children who excreted CMV for <4 years had SNHL and progressive SNHL compared with children with CMV excretion >4 years (P = 0.019, P = 0.009, respectively). Children congenitally infected with CMV are chronically infected for years, but the duration of CMV urinary excretion is not associated with abnormalities of growth, or neurodevelopmental deficits. However, SNHL and progressive SNHL were associated with a shorter duration of CMV excretion.

[Laparoscopic-assisted vaginal hysterectomy after multiple abdominal surgeries--case study].

PubMed

Malinowski, Andrzej; Wiecka-Płusa, Monika; Mołas, Justyna

2009-11-01

At present the laparoscopic-assisted vaginal hysterectomy (LAVH) is the most widespread and most frequently executed variation of hysterectomy. It is an effective and safe operating alternative for the traditional way--abdominal hysterectomy. Good cosmetic effects, short post-operative stay at hospital and, first of all, a small risk of intra- and postoperative complications are the major driving factors justifying the choice of this method of surgery. In the following article we describe a case of a 43-year-old woman who underwent many interventions in the peritoneal cavity (abdominal surgery) and was shortlisted for the laparoscopic-assisted vaginal hysterectomy. The cause of the operation was recurrent bilateral ovary cystis that could not be treated neither conservatively nor surgically, as well as the uterus myoma leading to abnormal uterus bleeding and hypermenorrhoea. Surgery in patients who have previously undergone abdominal operations is always difficult and the risk of complications is high indeed. In this case, while selecting the method of the next surgical procedure, surgeons must not exclude the vaginal and laparoscopic methods, or use them simultaneously. Experiences of other surgeons, as well as the unique case of a treated patient, show that previous abdominal surgical procedures are not a contraindication for either vaginal or laparoscopic procedures, and in some cases they might be safer than yet another laparotomy.

Congenital hypertrophy of multiple intrinsic muscles of the foot.

PubMed

Shiraishi, Tomohiro; Park, Susam; Niu, Atushi; Hasegawa, Hiromi

2014-12-01

Congenital hypertrophy of a single intrinsic muscle of the foot is rare, and as far as we know, only six cases have been reported. We describe a case of congenital anomaly that showed hypertrophy of multiple intrinsic muscles of the foot; the affected muscles were all the intrinsic muscles of the foot except the extensor digitorum brevis or extensor hallucis. Other tissues such as adipose tissue, nervous tissue, or osseous tissue showed no abnormalities. To reduce the volume of the foot we removed parts of the enlarged muscles.

Congenital Zika syndrome with arthrogryposis: retrospective case series study.

PubMed

van der Linden, Vanessa; Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; van der Linden, Ana; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli

2016-08-09

To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Retrospective case series study. Association for Assistance of Disabled Children, Pernambuco state, Brazil. Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities

Congenital Zika syndrome with arthrogryposis: retrospective case series study

PubMed Central

Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli

2016-01-01

Objective To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Design Retrospective case series study. Setting Association for Assistance of Disabled Children, Pernambuco state, Brazil. Participants Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. Results The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital

Congenital portosystemic shunts: prenatal manifestations with postnatal confirmation and follow-up.

PubMed

Han, Byoung Hee; Park, Sung Bin; Song, Mi Jin; Lee, Kyung Sang; Lee, Young-Ho; Ko, Sun Young; Lee, Yeon Kyung

2013-01-01

The purpose of this study was to evaluate prenatal sonographic findings that could be helpful for diagnosis of congenital intrahepatic portosystemic venous shunts and the follow-up results. Six neonates with congenital shunts between the portal vein and hepatic vein were enrolled in this study. Prenatal sonography was performed in 5 cases. We categorized the cases according to a previously published classification of intrahepatic portosystemic venous shunts and retrospectively reviewed the prenatal and postnatal sonographic examinations to identify findings that might be helpful for diagnosing shunts prenatally. Follow-up sonographic examinations were done until closure of the shunts. Clinical features were also determined. According to the original reports, intrahepatic portosystemic venous shunts were diagnosed by prenatal sonography in 2 of 5 cases. In the remaining 3 cases, there were suggestive abnormal findings on retrospective review, including an abnormal intrahepatic tubular structure, a prominent hepatic vein, and congestive heart failure. Postnatal sonography showed type 2 shunts in all 6 cases. In 1 case, there were 2 type 2 lesions between two branches of the left portal vein and the middle and left hepatic veins. On follow-up sonography, 5 of the 6 congenital shunts had spontaneously closed by 11 months of age. One case was treated with coil embolization during the neonatal period. Intrauterine growth restriction was the most commonly clinical feature prenatally. Findings such as an abnormal tubular structure, a prominent hepatic vein, and congestive heart failure can be important clues for identifying congenital intrahepatic portosystemic venous shunts on prenatal sonography. The use of prenatal and postnatal sonography is feasible for detection and evaluation of these shunts.

Vaginal Cancer—Patient Version

Cancer.gov

Two-thirds of vaginal cancer cases are caused by human papillomavirus (HPV). Vaccines that protect against infection with HPV may reduce the risk of vaginal cancer. When found early, vaginal cancer can often be cured. Start here to find information on vaginal cancer treatment and research.

More frequent vaginal orgasm is associated with experiencing greater excitement from deep vaginal stimulation.

PubMed

Brody, Stuart; Klapilova, Katerina; Krejčová, Lucie

2013-07-01

Research indicated that: (i) vaginal orgasm (induced by penile-vaginal intercourse [PVI] without concurrent clitoral masturbation) consistency (vaginal orgasm consistency [VOC]; percentage of PVI occasions resulting in vaginal orgasm) is associated with mental attention to vaginal sensations during PVI, preference for a longer penis, and indices of psychological and physiological functioning, and (ii) clitoral, distal vaginal, and deep vaginal/cervical stimulation project via different peripheral nerves to different brain regions. The aim of this study is to examine the association of VOC with: (i) sexual arousability perceived from deep vaginal stimulation (compared with middle and shallow vaginal stimulation and clitoral stimulation), and (ii) whether vaginal stimulation was present during the woman's first masturbation. A sample of 75 Czech women (aged 18-36), provided details of recent VOC, site of genital stimulation during first masturbation, and their recent sexual arousability from the four genital sites. The association of VOC with: (i) sexual arousability perceived from the four genital sites and (ii) involvement of vaginal stimulation in first-ever masturbation. VOC was associated with greater sexual arousability from deep vaginal stimulation but not with sexual arousability from other genital sites. VOC was also associated with women's first masturbation incorporating (or being exclusively) vaginal stimulation. The findings suggest (i) stimulating the vagina during early life masturbation might indicate individual readiness for developing greater vaginal responsiveness, leading to adult greater VOC, and (ii) current sensitivity of deep vaginal and cervical regions is associated with VOC, which might be due to some combination of different neurophysiological projections of the deep regions and their greater responsiveness to penile stimulation. © 2013 International Society for Sexual Medicine.

Oral glutamine challenge and magnetic resonance spectroscopy in three patients with congenital portosystemic shunts.

PubMed

Ortiz, María; Córdoba, Juan; Alonso, Juli; Rovira, Alex; Quiroga, Sergi; Jacas, Carlos; Esteban, Rafael; Guardia, Jaume

2004-03-01

Congenital portosystemic shunts are rare abnormalities of liver vasculature that can cause neurological symptoms, probably secondarily to the effects of the metabolism of ammonia in the brain. Our aim was to investigate the relationship between capillary blood ammonia after oral glutamine challenge and magnetic resonance spectroscopy in three patients with congenital portosystemic shunts. Neuropsychological tests, oral glutamine challenge and magnetic resonance spectroscopy were performed at baseline and after 6 months of follow-up in three patients with congenital portosystemic shunts. The results were compared to those obtained in a group of six cirrhotic patients with prior episodes of hepatic encephalopathy and healthy controls. Patients with congenital portosystemic shunts exhibited abnormalities of neuropsychological tests, magnetic resonance spectroscopy and a response to the oral glutamine challenge similar to those observed in patients with cirrhosis. The intensity of the rise of brain glutamine was correlated to the area under the curve of ammonia after the oral glutamine challenge (R=0.72). Neurological manifestations of patients with congenital portosystemic shunts are mediated through similar mechanisms that are involved in the pathogenesis of hepatic encephalopathy. The area under the curve appears to be the better parameter that defines the response to the oral glutamine challenge.

Management of aerobic vaginitis.

PubMed

Tempera, Gianna; Furneri, Pio Maria

2010-01-01

Aerobic vaginitis is a new nonclassifiable pathology that is neither specific vaginitis nor bacterial vaginosis. The diversity of this microbiological peculiarity could also explain several therapeutic failures when patients were treated for infections identified as bacterial vaginosis. The diagnosis 'aerobic vaginitis' is essentially based on microscopic examinations using a phase-contrast microscope (at ×400 magnification). The therapeutic choice for 'aerobic vaginitis' should take into consideration an antibiotic characterized by an intrinsic activity against the majority of bacteria of fecal origin, bactericidal effect and poor/absent interference with the vaginal microbiota. Regarding the therapy for aerobic vaginitis when antimicrobial agents are prescribed, not only the antimicrobial spectrum but also the presumed ecological disturbance on the anaerobic and aerobic vaginal and rectal microbiota should be taken into a consideration. Because of their very low impact on the vaginal microbiota, kanamycin or quinolones are to be considered a good choice for therapy. Copyright © 2010 S. Karger AG, Basel.

Vaginal Bleeding

MedlinePlus

... bleeding is any vaginal bleeding unrelated to normal menstruation. This type of bleeding may include spotting of ... two or more hours. Normal vaginal bleeding, or menstruation, occurs every 21 to 35 days when the ...

Vaginal Odor

MedlinePlus

... usually don't cause vaginal odors. Neither do yeast infections. Generally, if you have vaginal odor without ... Avoid douching. All healthy vaginas contain bacteria and yeast. The normal acidity of your vagina keeps bacteria ...

Clindamycin Vaginal

MedlinePlus

... an infection caused by an overgrowth of harmful bacteria in the vagina). Clindamycin is in a class ... works by slowing or stopping the growth of bacteria. Vaginal clindamycin cannot be used to treat vaginal ...

Vaginal Diseases

MedlinePlus

Vaginal problems are some of the most common reasons women go to the doctor. They may have ... common problem is vaginitis, an inflammation of the vagina. Other problems that affect the vagina include sexually ...

Congenital myopathy is caused by mutation of HACD1.

PubMed

Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; Deluca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C; Parvari, Ruti

2013-12-20

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function.

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

PubMed

Carlsson, G; van't Hooft, I; Melin, M; Entesarian, M; Laurencikas, E; Nennesmo, I; Trebińska, A; Grzybowska, E; Palmblad, J; Dahl, N; Nordenskjöld, M; Fadeel, B; Henter, J-I

2008-10-01

Homozygous mutations in the HAX1 gene were recently identified in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Our observations suggested that these patients also develop neurological and neuropsychological symptoms. Detailed clinical studies and mutation analyses were performed in the surviving patients belonging to the Kostmann kindred and in two patients not related to this family, along with studies of HAX1 splice variant expression in normal human tissues. Five of six Kostmann family patients and one other patient from northern Sweden harboured homozygous HAX1 mutations (568C-->T, Q190X) and one carried a heterozygous ELA2 gene mutation. One Swedish patient of Kurdish extraction carried alternative homozygous HAX1 mutations (131G-->A, W44X). All the three patients with Q190X mutations who were alive and available for evaluation developed neurological disease with decreased cognitive function, and three of four patients who reached 10 years developed epilepsy. In contrast, the patients with the ELA2 and W44X HAX1 mutations, respectively, showed no obvious neurological abnormalities. Moreover, two alternative HAX1 splice variants were identified in normal human tissues, including the brain. Both transcripts contained exon 5, harbouring the Q190X mutation, whereas the 5' end of exon 2 containing the W44X mutation was spliced out from the second transcript. We describe neurological and neuropsychological abnormalities for the first time in Kostmann disease patients. These central nervous system symptoms appear to be associated with specific HAX1 mutations.

How do clinicians manage vaginal complaints? An Internet survey.

PubMed

Anderson, Matthew R; Karasz, Alison

2005-06-21

Although vaginal symptoms are among the most common presentations in primary care, little is known about how clinicians manage them. We undertook an Internet survey to determine how clinicians decided what was normal, how they evaluated vaginal complaints, and what happened when a diagnosis could not be reached. A 27-question anonymous survey was conducted using the Medscape Internet publication platform and Medscape General Medicine , an online, peer-reviewed, open-access general medical journal. The study was targeted at physicians and nurse practitioners. There were 556 nurse practitioner and 608 physician respondents. Clinicians generally agreed that a midcycle increase in discharge and discharge seen at the introitus were normal; itching/irritation, odor, and a green discharge were not. There was less agreement concerning the value of a yellow discharge and "self-diagnosis" of abnormality. Eighty-two percent of MDs and 77% of NPs reported examining patients prior to treatment always or often. Only about 30% performed pH testing always or often. Ninety percent of NPs and 92% of MDs reported not making a diagnosis rarely or sometimes. When offered 4 different management strategies for patients in whom no diagnosis was made (watch and wait, symptomatic therapy, empiric antibiotics, referral), there was no clear preference. There was a weak correlation between performance of a wet mount and reports of less non-diagnosis. There was no correlation between pH and whiff testing and reports of less non-diagnosis. Clinicians do not always agree about what constitutes a vaginal symptom. Although most providers usually examine patients with vaginal complaints, pH and whiff testing are performed less frequently. Our data suggest the latter 2 maneuvers are not diagnostically helpful. There is no consensus regarding what to do when no diagnosis is made. Our findings suggest that the traditional approach to the evaluation of vaginal symptoms may have limited relevance for

Partial duplication of head--a rare congenital anomaly.

PubMed

Hemachandran, Manikkapurath; Radotra, Bishan Dass

2004-10-01

Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

Amine content of vaginal fluid from untreated and treated patients with nonspecific vaginitis.

PubMed Central

Chen, K C; Forsyth, P S; Buchanan, T M; Holmes, K K

1979-01-01

We examined the vaginal washings from patients with nonspecific vaginitis (NSV) to seek biochemical markers and possible explanations for the signs and symptoms of this syndrome. Seven amines were identified including methylamine, isobutylamine, putrescine, cadaverine, histamine, tyramine, and phenethylamine. These amines may contribute to the symptoms of NSV and may contribute to the elevated pH of the vaginal discharge. They may also be partly responsible for the "fishy" odor that is characteristic of vaginal discharges from these patients. Among the seven amines, putrescine and cadaverine were the most abundant and were present in all vaginal discharges from each of ten patients before treatment. These amines are produced in vitro during growth of mixed vaginal bacteria in chemically defined medium, presumably by decarboxylation of the corresponding amino acids. We hypothesize the anaerobic vaginal organisms, previously shown to be quantitatively increased in NSV, are responsible for the amine production, because metronidazole inhibited the production of amines by vaginal bacteria in vitro, and Haemophilus vaginalis did not produce amines. H. vaginalis did release high concentrations of pyruvic acid and of amino acids during growth in peptone-starch-dextrose medium, whereas, other vaginal flora consumed both pyruvic acid and amino acids in the same medium during growth. These findings suggest that a symbiotic relationship may exist between H. vaginalis and other vaginal flora in patients with NSV. Images PMID:447831

Amblyopia Associated with Congenital Facial Nerve Paralysis.

PubMed

Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

2016-01-01

The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible. © 2016 S. Karger AG, Basel.

Vaginal orgasm is associated with vaginal (not clitoral) sex education, focusing mental attention on vaginal sensations, intercourse duration, and a preference for a longer penis.

PubMed

Brody, Stuart; Weiss, Petr

2010-08-01

Evidence was recently provided for vaginal orgasm, orgasm triggered purely by penile-vaginal intercourse (PVI), being associated with better psychological functioning. Common sex education and sexual medicine approaches might undermine vaginal orgasm benefits. To examine the extent to which women's vaginal orgasm consistency is associated with (i) being told in childhood or adolescence that the vagina was the important zone for inducing female orgasm; (ii) how well they focus mentally on vaginal sensations during PVI; (iii) greater PVI duration; and (iv) preference for above-average penis length.   In a representative sample of the Czech population, 1,000 women reported their vaginal orgasm consistency (from never to almost every time; only 21.9% never had a vaginal orgasm), estimates of their typical foreplay and PVI durations, what they were told in childhood and adolescence was the important zone for inducing female orgasm, their degree of focus on vaginal sensations during PVI, and whether they were more likely to orgasm with a longer than average penis. The association of vaginal orgasm consistency with the predictors noted above. Vaginal orgasm consistency was associated with all hypothesized correlates. Multivariate analysis indicated the most important predictors were being educated that the vagina is important for female orgasm, being mentally focused on vaginal sensations during PVI, and in some analyses duration of PVI (but not foreplay) and preferring a longer than average penis. Focusing attention on penile-vaginal sensation supports vaginal orgasm and the myriad benefits thereof. Brody S, and Weiss P. Vaginal orgasm is associated with vaginal (not clitoral) sex education, focusing mental attention on vaginal sensations, intercourse duration, and a preference for a longer penis. © 2009 International Society for Sexual Medicine.

Why do women complain of vaginal discharge? A population survey of infectious and pyschosocial risk factors in a South Asian community.

PubMed

Patel, Vikram; Pednekar, Sulochana; Weiss, Helen; Rodrigues, Merlyn; Barros, Preetam; Nayak, Bernice; Tanksale, Vandana; West, Beryl; Nevrekar, Prasad; Kirkwood, Betty R; Mabey, David

2005-08-01

Vaginal discharge is a common complaint, particularly among women in Asia. Although presumed to be caused by reproductive tract infections (RTIs), the association between the complaint and the presence of RTIs is weak. This study aimed to investigate the risk factors of the complaint of vaginal discharge. We conducted a community-based survey of 3000 women aged 18-50 years, randomly sampled from a population in Goa, India. Women who gave informed consent were invited to participate in a structured interview, which elicited data on the primary outcome (the experience of current abnormal vaginal discharge) and psychosocial exposures: gender adversity; symptoms of somatoform disorders; and common mental disorders (CMD). All women were required to provide vaginal and/or urine samples for diagnosis of RTIs using gold standard laboratory tests. Risk factors were analysed using logistic regression with the binary outcome of the complaint of vaginal discharge. Of the 2494 women (83%) who agreed to participate, 14.5% complained of having an abnormal vaginal discharge. Stress was the most common causal attribution for the complaint. The final multivariate model found that high scores for CMD (OR 2.16, 1.4-3.2) and somatoform disorders (6.23, 4.0-9.7) and the use of an intrauterine contraceptive device (1.86, 1.0-3.4) were independently associated with the complaint. Low literacy (0.54, 0.4-0.8) and age >40 years (0.29, 0.2-0.4) were associated with a reduced risk. RTI were not associated with the complaint (1.24, 0.9-1.6). Psychosocial factors have the strongest association with the complaint of vaginal discharge. Syndromic management algorithms need refinement so that women with complaints that are non-infectious in aetiology are offered psychosocial interventions.

Vaginal cysts

MedlinePlus

... essential to determine what type of cyst or mass you may have. A mass or bulge of the vaginal wall may be ... to rule out vaginal cancer, especially if the mass appears to be solid. If the cyst is ...

Menopause and the vaginal microbiome.

PubMed

Muhleisen, Alicia L; Herbst-Kralovetz, Melissa M

2016-09-01

For over a century it has been well documented that bacteria in the vagina maintain vaginal homeostasis, and that an imbalance or dysbiosis may be associated with poor reproductive and gynecologic health outcomes. Vaginal microbiota are of particular significance to postmenopausal women and may have a profound effect on vulvovaginal atrophy, vaginal dryness, sexual health and overall quality of life. As molecular-based techniques have evolved, our understanding of the diversity and complexity of this bacterial community has expanded. The objective of this review is to compare the changes that have been identified in the vaginal microbiota of menopausal women, outline alterations in the microbiome associated with specific menopausal symptoms, and define how hormone replacement therapy impacts the vaginal microbiome and menopausal symptoms; it concludes by considering the potential of probiotics to reinstate vaginal homeostasis following menopause. This review details the studies that support the role of Lactobacillus species in maintaining vaginal homeostasis and how the vaginal microbiome structure in postmenopausal women changes with decreasing levels of circulating estrogen. In addition, the associated transformations in the microanatomical features of the vaginal epithelium that can lead to vaginal symptoms associated with menopause are described. Furthermore, hormone replacement therapy directly influences the dominance of Lactobacillus in the microbiota and can resolve vaginal symptoms. Oral and vaginal probiotics hold great promise and initial studies complement the findings of previous research efforts concerning menopause and the vaginal microbiome; however, additional trials are required to determine the efficacy of bacterial therapeutics to modulate or restore vaginal homeostasis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Morphology of congenital portosystemic shunts involving the right gastric vein in dogs.

PubMed

White, R N; Parry, A T

2015-07-01

To describe the anatomy of congenital portosystemic shunts involving the right gastric vein in dogs. Retrospective review of a consecutive series of dogs managed for congenital portosystemic shunt. Twenty-two dogs met the inclusion criteria of a congenital portosystemic shunt involving the right gastric vein with recorded intraoperative mesenteric portovenography or computed tomography angiography and gross observations at the time of surgery. Of these, 20 (91%) had a shunt that entered the pre-hepatic caudal vena cava at the level of the epiploic foramen and two (9%) had a shunt that entered the post-hepatic caudal vena cava at the level of the diaphragm. Shunts entering the pre-hepatic caudal vena cava could be further classified into three consistent subdivisions. The morphology of each shunt type described appeared to be a result of an abnormal communication between the left gastric vein and the caudal vena cava, the presence or absence of an abnormal communication between the splenic, left gastric and portal veins and the subsequent development of preferential blood flow through essentially normal portal vessels within the portal venous system. The abnormal communication (shunt) was through the left gastric vein and not the right gastric vein, as might have been expected. This information may help with surgical planning in cases undergoing shunt closure surgery. © 2015 British Small Animal Veterinary Association.

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

PubMed Central

Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

2013-01-01

Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

Congenital hypothyroidism and concurrent renal insufficiency in a kitten.

PubMed

Lim, Chee Kin; Rosa, Chantal T; de Witt, Yolanda; Schoeman, Johan P

2014-11-14

A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat's age at the time of diagnosis.

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

PubMed

Uwineza, Annette; Caberg, Jean-Hubert; Hitayezu, Janvier; Hellin, Anne Cecile; Jamar, Mauricette; Dideberg, Vinciane; Rusingiza, Emmanuel K; Bours, Vincent; Mutesa, Leon

2014-07-12

Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform. Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances. This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

Comparison between vaginal royal jelly and vaginal estrogen effects on quality of life and vaginal atrophy in postmenopausal women: a clinical trial study.

PubMed

Seyyedi, Fatemeh; Kopaei, Mahmoud Rafiean; Miraj, Sepideh

2016-11-01

This study was conducted to evaluate the therapeutic effects of vaginal royal jelly and vaginal estrogen on quality of life and vaginal atrophy in postmenopausal women. This double-blind randomized controlled clinical trial was carried out at gynecology and obstetrics clinics of Hajar Hospital of Shahrekord University of Medical Sciences (Iran) from January 2013 to January 2014. The study was conducted on married postmenopausal women between 50 and 65 years old. Of 120 patients, 30 individuals were excluded based on the exclusion criteria, and 90 women were randomly distributed into three groups of 30 royal jelly vaginal cream 15%, vaginal Premarin, and placebo (lubricant), for three months. At the beginning and the end of the study, quality of life and vaginal cytology assay were evaluated. Data were analyzed by SPSS Version 11. Vaginal cream of royal jelly is significantly more effective than vaginal cream of Premarin and lubricant in improvement of quality of life in postmenopausal women (p<0.05). Moreover, Pap smear results showed that vaginal atrophy in vaginal Premarin group was lower than the other groups (p<0.001), and there was no significant difference between lubricant and royal jelly groups (p=0.89). Administration of vaginal royal jelly was effective in quality-of-life improvement of postmenopausal women. Given to the various properties of royal jelly and its effectiveness on quality of life and vaginal atrophy in postmenopausal women, further studies are recommended for using =royal jelly in improving menopausal symptoms. The trial was registered at the Iranian Registry of Clinical Trials (http://www.irct.ir) with the IRCT code: 2014112220043n1. Shahrekord University of Medical Sciences supported this research (project no. 1440).

Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

PubMed

Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

2016-01-01

We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

[Advances in congenital vertebral malformation caused by genomic copy number variation].

PubMed

Liu, Zhenlei; Wu, Nan; Wu, Zhihong; Zuo, Yuzhi; Qiu, Guixing

2016-04-01

Congenital vertebral malformation (CVM) is a congenital vertebral structural deformity caused by abnormal somitogenesis during embryonic development, of which the reason lies in gene mutation or abnormal regulation of the genes that coordinate somitogenesis during embryonic period. ICVAS had proposed a new classification algorithm for CVM, which facilitated exploration for its genetic etiology. Genomic Copy Number Variation (CNV) is a kind of DNA mutation, which is important for human evolution, phenotype polymorphism and diseases. Series of advances have been made on genetic causes of CVM, especially on CVM caused by CNV. CNVs of chromosome 16p11.2, 10q24.31, 17p11.2, 20p11, 22q11.2 and a few other regions are associated with CVM, indicating that gene dosage may play important roles in the development of the spinal cord.

[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

PubMed

Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

2012-01-01

Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

Vaginal biogenic amines: biomarkers of bacterial vaginosis or precursors to vaginal dysbiosis?

PubMed Central

Nelson, Tiffanie M.; Borgogna, Joanna-Lynn C.; Brotman, Rebecca M.; Ravel, Jacques; Walk, Seth T.; Yeoman, Carl J.

2015-01-01

Bacterial vaginosis (BV) is the most common vaginal disorder among reproductive age women. One clinical indicator of BV is a “fishy” odor. This odor has been associated with increases in several biogenic amines (BAs) that may serve as important biomarkers. Within the vagina, BA production has been linked to various vaginal taxa, yet their genetic capability to synthesize BAs is unknown. Using a bioinformatics approach, we show that relatively few vaginal taxa are predicted to be capable of producing BAs. Many of these taxa (Dialister, Prevotella, Parvimonas, Megasphaera, Peptostreptococcus, and Veillonella spp.) are more abundant in the vaginal microbial community state type (CST) IV, which is depleted in lactobacilli. Several of the major Lactobacillus species (L. crispatus, L. jensenii, and L. gasseri) were identified as possessing gene sequences for proteins predicted to be capable of putrescine production. Finally, we show in a small cross sectional study of 37 women that the BAs putrescine, cadaverine and tyramine are significantly higher in CST IV over CSTs I and III. These data support the hypothesis that BA production is conducted by few vaginal taxa and may be important to the outgrowth of BV-associated (vaginal dysbiosis) vaginal bacteria. PMID:26483694

Vaginal biogenic amines: biomarkers of bacterial vaginosis or precursors to vaginal dysbiosis?

PubMed

Nelson, Tiffanie M; Borgogna, Joanna-Lynn C; Brotman, Rebecca M; Ravel, Jacques; Walk, Seth T; Yeoman, Carl J

2015-01-01

Bacterial vaginosis (BV) is the most common vaginal disorder among reproductive age women. One clinical indicator of BV is a "fishy" odor. This odor has been associated with increases in several biogenic amines (BAs) that may serve as important biomarkers. Within the vagina, BA production has been linked to various vaginal taxa, yet their genetic capability to synthesize BAs is unknown. Using a bioinformatics approach, we show that relatively few vaginal taxa are predicted to be capable of producing BAs. Many of these taxa (Dialister, Prevotella, Parvimonas, Megasphaera, Peptostreptococcus, and Veillonella spp.) are more abundant in the vaginal microbial community state type (CST) IV, which is depleted in lactobacilli. Several of the major Lactobacillus species (L. crispatus, L. jensenii, and L. gasseri) were identified as possessing gene sequences for proteins predicted to be capable of putrescine production. Finally, we show in a small cross sectional study of 37 women that the BAs putrescine, cadaverine and tyramine are significantly higher in CST IV over CSTs I and III. These data support the hypothesis that BA production is conducted by few vaginal taxa and may be important to the outgrowth of BV-associated (vaginal dysbiosis) vaginal bacteria.

Vaginal bleeding in pregnancy

MedlinePlus

Pregnancy - vaginal bleeding; Maternal blood loss - vaginal ... Up to 1 in 4 women have vaginal bleeding at some time during their pregnancy. Bleeding is more common in the first 3 months (first trimester), especially with twins.

Vaginitis: diagnosis and management.

PubMed

Faro, S

1996-01-01

The various conditions that give rise to vaginitis include specific and nonspecific entities, such as candidiasis, trichomoniasis, bacterial vaginosis, group B streptococcal vaginitis, purulent vaginitis, volvodynia, and vestibulitis. The patient with chronic vaginitis usually develops this condition because of a misdiagnosis. It is critical that patients who have chronic vaginitis be thoroughly evaluated to determine if there is a specific etiology and whether their condition is recurrent or persistent, or is a reinfection. This also must include obtaining a detailed history, beginning with the patient's best recollection of when she felt perfectly normal. The physician must have an understanding of a healthy vaginal ecosystem and what mechanisms are in place to maintain the equilibrium. The vaginal ecosystem is a complex system of micro-organisms interacting with host factors to maintain its equilibrium. The endogenous microflora consists of a variety of bacteria, which include aerobic, facultative and obligate anaerobic bacteria. These organisms exist in a commensal, synergistic or antagonistic relationship. Therefore, it is important to understand what factors control the delicate equilibrium of the vaginal ecosystem, and which factors, both endogenous and exogenous, can disrupt this system. It is also important for the physician to understand that when a patient has symptoms of vaginitis it is not always due to an infectious etiology. There are situations in which an inflammatory reaction occurs but the specific etiology may not be determined. Thus, it is important that the physician not rush through the history or the examination.

Comparison between vaginal royal jelly and vaginal estrogen effects on quality of life and vaginal atrophy in postmenopausal women: a clinical trial study

PubMed Central

Seyyedi, Fatemeh; Kopaei, Mahmoud Rafiean; Miraj, Sepideh

2016-01-01

Objective This study was conducted to evaluate the therapeutic effects of vaginal royal jelly and vaginal estrogen on quality of life and vaginal atrophy in postmenopausal women. Methods This double-blind randomized controlled clinical trial was carried out at gynecology and obstetrics clinics of Hajar Hospital of Shahrekord University of Medical Sciences (Iran) from January 2013 to January 2014. The study was conducted on married postmenopausal women between 50 and 65 years old. Of 120 patients, 30 individuals were excluded based on the exclusion criteria, and 90 women were randomly distributed into three groups of 30 royal jelly vaginal cream 15%, vaginal Premarin, and placebo (lubricant), for three months. At the beginning and the end of the study, quality of life and vaginal cytology assay were evaluated. Data were analyzed by SPSS Version 11. Results Vaginal cream of royal jelly is significantly more effective than vaginal cream of Premarin and lubricant in improvement of quality of life in postmenopausal women (p<0.05). Moreover, Pap smear results showed that vaginal atrophy in vaginal Premarin group was lower than the other groups (p<0.001), and there was no significant difference between lubricant and royal jelly groups (p=0.89). Conclusion Administration of vaginal royal jelly was effective in quality-of-life improvement of postmenopausal women. Given to the various properties of royal jelly and its effectiveness on quality of life and vaginal atrophy in postmenopausal women, further studies are recommended for using =royal jelly in improving menopausal symptoms. Clinical trial registration The trial was registered at the Iranian Registry of Clinical Trials (http://www.irct.ir) with the IRCT code: 2014112220043n1. Funding Shahrekord University of Medical Sciences supported this research (project no. 1440). PMID:28070251

Vaginal Cancer—Health Professional Version

Cancer.gov

Vaginal cancer is often squamous cell carcinoma. Other types of vaginal cancer are adenocarcinoma, melanoma, and sarcoma. Infection with certain types of human papillomavirus (HPV) causes most vaginal cancer. Find evidence-based information on vaginal cancer treatment and research.

Morphology of splenocaval congenital portosystemic shunts in dogs and cats.

PubMed

White, R N; Parry, A T

2016-01-01

To describe the anatomy of congenital portosystemic shunts involving the splenic vein communicating with the caudal vena cava at the level of the epiploic foramen. A retrospective review of a consecutive series of dogs and cats managed for congenital portosystemic shunts. Ninety-eight dogs and eight cats met the inclusion criteria of a congenital portosystemic shunt involving the splenic vein communicating with the prehepatic caudal vena cava plus recorded intra-operative mesenteric portovenography or computed tomography angiography and gross observations at surgery. All cases (both dogs and cats) had a highly consistent shunt that involved a distended gastrosplenic vein that communicated with the caudal vena cava at the level of the epiploic foramen via an anomalous left gastric vein. The morphology of the shunt type described appeared to be a result of an abnormal communication between the left gastric vein and the caudal vena cava and the subsequent development of preferential blood flow through an essentially normal portal venous system. The abnormal communication (shunt) was through the left gastric vein and not the splenic vein, as might have been expected. This information may help with surgical planning in cases undergoing shunt closure surgery. © 2015 British Small Animal Veterinary Association.

Vaginal drug distribution modeling.

PubMed

Katz, David F; Yuan, Andrew; Gao, Yajing

2015-09-15

This review presents and applies fundamental mass transport theory describing the diffusion and convection driven mass transport of drugs to the vaginal environment. It considers sources of variability in the predictions of the models. It illustrates use of model predictions of microbicide drug concentration distribution (pharmacokinetics) to gain insights about drug effectiveness in preventing HIV infection (pharmacodynamics). The modeling compares vaginal drug distributions after different gel dosage regimens, and it evaluates consequences of changes in gel viscosity due to aging. It compares vaginal mucosal concentration distributions of drugs delivered by gels vs. intravaginal rings. Finally, the modeling approach is used to compare vaginal drug distributions across species with differing vaginal dimensions. Deterministic models of drug mass transport into and throughout the vaginal environment can provide critical insights about the mechanisms and determinants of such transport. This knowledge, and the methodology that obtains it, can be applied and translated to multiple applications, involving the scientific underpinnings of vaginal drug distribution and the performance evaluation and design of products, and their dosage regimens, that achieve it. Copyright © 2015 Elsevier B.V. All rights reserved.

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

PubMed

Fox, Danya A; Weese-Mayer, Debra E; Wensley, David F; Stewart, Laura L

2015-05-01

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (PHOX2B). In addition to hypoventilation, patients with CCHS display a wide array of autonomic nervous system abnormalities, including decreased heart rate variability and abrupt sinus pauses, esophageal dysmotility, abnormal pupillary light response, and temperature dysregulation, to name a few. To date, there has been no documentation of a child with both CCHS and hyperthyroidism. We report the case of a young child with CCHS who presented with tachycardia, which was later found to be due to Grave's disease, after many months of investigation.

Efficacy of oral pre-exposure prophylaxis (PrEP) for HIV among women with abnormal vaginal microbiota: a post-hoc analysis of the randomised, placebo-controlled Partners PrEP Study.

PubMed

Heffron, Renee; McClelland, R Scott; Balkus, Jennifer E; Celum, Connie; Cohen, Craig R; Mugo, Nelly; Bukusi, Elizabeth; Donnell, Deborah; Lingappa, Jairam; Kiarie, James; Fiedler, Tina; Munch, Matthew; Fredricks, David N; Baeten, Jared M

2017-10-01

Daily oral tenofovir-based pre-exposure prophylaxis (PrEP) is high efficacious for HIV prevention among women with high adherence. However, the effect of abnormal vaginal microbiota on PrEP efficacy is of concern. We investigated whether bacterial vaginosis modified the efficacy of oral PrEP. We used prospectively collected data from women in the Partners PrEP Study, a placebo-controlled trial of daily oral PrEP (either tenofovir monotherapy or a combination of tenofovir and emtricitabine) in HIV serodiscordant couples aged 18 years or older in Kenya and Uganda that showed high efficacy in women. We used Cox proportional hazards regression to assess PrEP efficacy among subgroups of women defined by bacterial vaginosis status based on yearly microscopy and Nugent scoring (0-3 indicated healthy microbiota, 4-6 intermediate, and 7-10 bacterial vaginosis). In separate efficacy analyses, we also investigated individual components of the score (ie, detection of Gardnerella vaginalis or Bacteroides spp and non-detection of Lactobacillus spp) as markers of abnormal microbiota. Of 1470 women (median age 33 years), 357 (24%) had bacterial vaginosis at enrolment. 45 women seroconverted to HIV. The HIV prevention efficacy of PrEP did not differ significantly among women with healthy microbiota (incidence 0·6 per 100 person years in PrEP group and 2·5 per 100 person-years in the placebo group; efficacy 76·55% [95% CI 43·09 to 90·37]), intermediate microbiota (HIV incidence 1·8 per 100 person-years in the PrEP group and 3·5 per 100 person-years in the placebo group; efficacy 62·72% [95% CI -66·59 to 91·66]), or bacterial vaginosis (HIV incidence 0·9 per 100 person-years in the PrEP group and 3·5 per 100 person-years in the placebo group; efficacy 72·50% [95% CI 5·98 to 91·95]; p interaction =0·871). PrEP efficacy was not significantly different between women with detected G vaginalis or Bacteroides spp morphotypes and those without these morphotypes (efficacy 68�

Abnormal intrinsic esophageal innervation in congenital diaphragmatic hernia: a likely cause of motor dysfunction.

PubMed

Pederiva, Federica; Rodriguez, Jose I; Ruiz-Bravo, Elena; Martinez, Leopoldo; Tovar, Juan A

2009-03-01

Patients with congenital diaphragmatic hernia (CDH) often have dilated esophagus and gastroesophageal reflux. Sparse intrinsic esophageal innervation has been described in rats with CDH, but this issue has not been investigated in patients with CDH. The present study tests the hypothesis that innervatory anomalies could account for motor dysfunction in human CDH. The esophagi of CDH (n = 6) and control babies dead of other causes (n = 6) were included in paraffin, transversally sectioned, and immunostained with antineurofilament and anti-S-100 antibodies. The proportion of the section surface occupied by neural structures, the ganglionar surface, and the number of neurons per ganglion were measured in 2 to 5 low-power fields from the proximal and distal esophagus with the assistance of image analysis software. Mann-Whitney tests were used for comparing the results using a threshold of significance of P < .05. The percentage of neural/muscle surface was similar in the upper esophagus in both groups, but it was significantly decreased in the lower esophagus of patients with CDH in comparison with controls. There was a relative scarcity of neural tissue in the intermuscular plexus of the lower esophagus. On the other hand, the ganglionar surface and the number of neurons per ganglion were identical in both groups. These results were similar with both immunostainings. Intrinsic innervation of the lower esophagus in CDH is abnormal in terms of decreased density of neural structures in the intermuscular plexus. These neural crest-derived anomalies could explain in part the esophageal dysfunction in survivors of CDH.

Congenital syphilis: early- and late-stage findings of rhagades and dental anomalies.

PubMed

Khetarpal, Shilpi; Kempf, Ellen; Mostow, Eliot

2011-01-01

Congenital syphilis occurs via vertical transmission when Treponema pallidum crosses the placenta after the 16th week of gestation. Manifestations of congenital syphilis vary from asymptomatic infection to stillbirth. We present a case of congenital syphilis in a Vietnamese orphan who presented with rhagades, hearing deficit, and abnormal dentition after adoption in the United States. He demonstrated both early- and late-stage findings of congenital syphilis. He is presumed to be 5 years old, and it is uncertain if he received treatment. Upon arrival to the United States, his rapid plasma reagin test was negative, but his fluorescent treponemal antibody-absorption test was positive, so no further treatment was recommended. It is possible that other late congenital syphilis stigmata may develop in his later years. The Centers for Disease Control recommends screening all pregnant women for syphilis at the beginning of prenatal care. Clinicians should be made aware of the manifestations of congenital syphilis, especially when caring for international orphans and children born to mothers who lacked prenatal care. © 2010 Wiley Periodicals, Inc.

The effect of vaginal cream containing ginger in users of clotrimazole vaginal cream on vaginal candidiasis.

PubMed

Shabanian, Sheida; Khalili, Sima; Lorigooini, Zahra; Malekpour, Afsaneh; Heidari-Soureshjani, Saeid

2017-01-01

Vulvovaginal candidiasis is one of the most common infections of the genital tract in women that causes many complications. Therefore, we examined the clinical effect of ginger cream along with clotrimazole compared to vaginal clotrimazole alone in this study. This double-blind clinical trial was conducted on 67 women admitted to the Gynecology Clinic of Hajar Hospital with vaginal candidiasis. The patients were divided randomly into two groups of 33 and 34 people. The diagnosis was made according to clinical symptoms, wet smear, and culture. Ginger-clotrimazole vaginal cream 1% and clotrimazole vaginal cream 1% were administered to groups 1 and 2, respectively, once a day for 7 days and therapeutic effects and symptoms were evaluated in readmission. Data analysis was performed using SPSS version 22, t -test and Chi-square. The mean value of variables itching ( P > 0.05), burning ( P > 0.05), and cheesy secretion ( P < 0.05) in users of ginger-clotrimazole was less than the other group after the treatment. Recurrence in clotrimazole group was 48.5% and in ginger-clotrimazole group 51.2% during the 1-month follow-up with no significant difference. Study results showed that cream containing ginger and clotrimazole 1% was more effective and may be more useful than the clotrimazole to treat vaginal candidiasis.

Safety of vaginal delivery among dichorionic diamniotic twins over 10 years in a UK teaching hospital.

PubMed

Rzyska, Ewelina; Ajay, Bini; Chandraharan, Edwin

2017-01-01

To determine whether vaginal delivery among dichorionic diamniotic twins remains a safe option following full implementation of the European Working Time Directive in the UK. A retrospective study was conducted using data for women with dichorionic diamniotic twin pregnancies who attended a teaching hospital in London, UK, for delivery between January 4, 2000, and December 23, 2010. Among 892 women, 474 (53.1%) attempted vaginal delivery, 220 (46.4%) of whom achieved spontaneous vaginal delivery of both twins. Instrumental vaginal delivery was performed among 89 women (18.8%), and 165 (34.8%) women underwent emergency cesarean delivery. Delivery of the second twin by emergency cesarean (n=31) was predominantly for fetal distress (13 [41.9%]) or abnormal lie (10 [32.3%]). A 5-minute Apgar score of 9 or 10 was recorded for 384 (83.7%) of 459 first twins and 369 (82.9%) of 445 second twins, irrespective of the mode of delivery. Vaginal delivery among dichorionic diamniotic twins had a good success rate and a low intrapartum emergency cesarean delivery rate. Training in cardiotocography and intrapartum procedures might further reduce the need for emergency cesarean delivery. © 2016 International Federation of Gynecology and Obstetrics.

Effects of vaginal lactobacilli in Chlamydia trachomatis infection.

PubMed

Mastromarino, Paola; Di Pietro, Marisa; Schiavoni, Giovanna; Nardis, Chiara; Gentile, Massimo; Sessa, Rosa

2014-07-01

Increasing evidence indicates that abnormal vaginal flora lacking lactobacilli facilitates the acquisition of several sexually transmitted diseases including Chlamydia trachomatis. C. trachomatis, the most common bacterial agent of genital infections worldwide, can progress from the lower to upper reproductive tract and induce severe sequelae. The ability of C. trachomatis to develop into a persistent form has been suggested as key pathogenetic mechanism underlying chronic infections and sequelae. The aim of our study was to investigate the C. trachomatis interaction with vaginal microbiota analyzing the effects of Lactobacillus strains (L. brevis and L. salivarius) on the different phases of C. trachomatis developmental cycle. In addition, the effect of lactobacilli on persistent chlamydial forms induced by HSV-2 coinfection has also been evaluated. Our results demonstrated significant inhibition of C. trachomatis multiplication by vaginal lactobacilli. L. brevis was significantly more effective than L. salivarius (p<0.05) on all the steps of chlamydial infection cycle suggesting that the ability of lactobacilli to protect from infection is strain-dependent. Lactobacilli had an adverse effect on elementary chlamydial bodies (p<0.05), on chlamydial adsorption to epithelial cells (p<0.001) and on intracellular phases of chlamydial replication (p<0.0001). Our study also demonstrated a protective effect of lactobacilli toward persistent C. trachomatis forms induced by HSV-2 coinfection. A significant increase in the production of C. trachomatis infectious progeny was observed in C. trachomatis/HSV-2 coinfection in the presence of L. brevis (p=0.01) despite a significant inhibition of C. trachomatis multiplication (p=0.028). Our data suggest that a healthy vaginal microbiota can reduce the risk of acquiring C. trachomatis infection and counteract the development of persistent chlamydial forms. Copyright © 2014 Elsevier GmbH. All rights reserved.

Vaginal mucosal flap as a sling preservation for the treatment of vaginal exposure of mesh.

PubMed

Kim, Sea Young; Park, Jong Yeon; Kim, Han Kwon; Park, Chang Hoo; Kim, Sung Jin; Sung, Gi Teck; Park, Chang Myon

2010-06-01

Tension-free vaginal tape (TVT) procedures are used for the treatment of stress urinary incontinence in women. The procedures with synthetic materials can have a risk of vaginal erosion. We experienced transobturator suburethral sling (TOT) tape-induced vaginal erosion and report the efficacy of a vaginal mucosal covering technique. A total of 560 female patients diagnosed with stress urinary incontinence underwent TOT procedures at our hospital between January 2005 and August 2009. All patients succeeded in follow-ups, among which 8 patients (mean age: 50.5 years) presented with vaginal exposure of the mesh. A vaginal mucosal covering technique was performed under local anesthesia after administration of antibiotics and vaginal wound dressings for 3-4 days. Seven of the 8 patients complained of persistent vaginal discharge postoperatively. Two of the 8 patients complained of dyspareunia of their male partners. The one remaining patient was otherwise asymptomatic, but mesh erosion was discovered at the routine follow-up visit. Six of the 8 patients showed complete mucosal covering of the mesh after the operation (mean follow-up period: 16 moths). Vaginal mucosal erosion recurred in 2 patients, and the mesh was then partially removed. One patient had recurrent stress urinary incontinence. Vaginal mucosal covering as a sling preservation with continued patient continence may be a feasible and effective option for the treatment of vaginal exposure of mesh after TOT tape procedures.

Congenital myopathy is caused by mutation of HACD1

PubMed Central

Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti

2013-01-01

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function. PMID:23933735

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

PubMed

Hunter, Janel Darcy; Davis, Melissa Ann; Law, Jennifer Rachel

2017-01-01

The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.

The Development of Cervical and Vaginal Adenosis as a Result of Diethylstilbestrol Exposure In Utero

PubMed Central

Laronda, Monica M.; Unno, Kenji; Butler, Lindsey M.; Kurita, Takeshi

2012-01-01

Exposure to exogenous hormones during development can result in permanent health problems. In utero exposure to diethylstilbestrol (DES) is probably the most well documented case in human history. DES, an orally active synthetic estrogen, was believed to prevent adverse pregnancy outcome and thus was routinely given to selected pregnant women from the 1940s to the 1960s. It has been estimated that 5 million pregnant women worldwide were prescribed with DES during this period. In the early 1970s, vaginal clear cell adenocarcinomas (CCACs) were diagnosed in daughters whose mother took DES during pregnancy (known as DES daughters). Follow up studies demonstrated that exposure to DES in utero causes a spectrum of congenital anomalies in female reproductive tracts and CCACs. Among those, cervical and vaginal adenoses are most commonly found, which are believed to be the precursors of CCACs. Transformation related protein 63 (TRP63/p63) marks the cell fate decision of Müllerian duct epithelium (MDE) to become squamous epithelium in the cervix and vagina. DES disrupts the TRP63 expression in mice and induces adenosis lesions in the cervix and vagina. This review describes mouse models can be used to study the development of DES-induced anomalies, focusing on cervical and vaginal adenoses, and discusses its molecular pathogenesis. PMID:22682699

[MRI in congenital nystagmus].

PubMed

Denis, D; Girard, N; Toesca, E; Zanin, E; Gambarelli, N; Lebranchu, P; Mancini, J

2010-03-01

Congenital nystagmus (CN) that is present by the age of 3 months is the most common form of nystagmus in childhood. We present a prospective study (2001-2008) in which we report imaging findings in 48 children with CN. Twenty-six boys and 22 girls with CN underwent a complete ophthalmologic assessment and a cerebral MRI (mean age of examination under general anesthesia: 11 months). Three CN groups were formed: neurologic (n=27), sensory visual disturbance (n=14), and isolated (n=7). Cerebral MRI was interpreted by the same pediatric neuroradiologist (NG). Of the children studied, 98 % were born at term. The MRI abnormalities were classified as morphologic abnormalities (malformative or nonmalformative) and as signal abnormalities. The location of brain abnormalities was within the posterior fossa, (brain stem, cerebellum, dental nuclei, cisterna magna) and the cerebral hemisphere (white matter, perivascular spaces, midline commissures, basal ganglia). Pendular nystagmus was prevalent in sensory and neurologic nystagmus. On fundus examination, optic disc abnormalities were present in 70 % (19) of neurologic CN and associated with white matter abnormalities of the optic radiations in 40 % of cases. On MRI, malformative morphologic abnormalities were present in 27 cases, nonmalformative abnormalities were found in 67, and signal abnormalities in 68. Within the brain stem, signal abnormalities were found as a cockade appearance of the posterior pons in the reticular regions (neurologic n=14, sensory n=6, isolated n=3). Other bright (most frequent) signal abnormalities were found within the dentate nuclei of the posterior fossa (neurologic n=10, sensory n=3, isolated n=3) and the cerebral white matter (neurologic n=17, sensory n=7, isolated n=5) of which 24 (neurologic n=15, sensory n=5, isolated n=4) involved the optic radiations. Most of these abnormalities were related and were seen most frequently in neurologic nystagmus. The most frequent association was signal

Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.

PubMed

Kloesel, Benjamin; DiNardo, James A; Body, Simon C

2016-09-01

Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this article, we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions.

Maternal and congenital toxoplasmosis, currently available and novel therapies in horizon

PubMed Central

Oz, Helieh S.

2014-01-01

Over one billion people worldwide are predicted to harbor Toxoplasma infection frequently with unknown lifelong health consequences. Toxoplasmosis is an important cause of foodborne, inflammatory illnesses, as well as congenital abnormalities. Ubiquitous Toxoplasma has a unique tropism for central nervous system with a mind-bugging effect and is transmitted sexually through semen. Currently available therapies are ineffective for persistent chronic disease and congenital toxoplasmosis or have severe side effects which may result in life-threatening complications. There is an urgent need for safe and effective therapies to eliminate or treat this cosmopolitan infectious and inflammatory disease. This investigation discusses pathogenesis of maternal and congenital toxoplasmosis, the currently available therapies in practice, and the experimental therapeutic modalities for promising future trials. PMID:25104952

Lactobacilli Dominance and Vaginal pH: Why Is the Human Vaginal Microbiome Unique?

PubMed

Miller, Elizabeth A; Beasley, DeAnna E; Dunn, Robert R; Archie, Elizabeth A

2016-01-01

The human vaginal microbiome is dominated by bacteria from the genus Lactobacillus , which create an acidic environment thought to protect women against sexually transmitted pathogens and opportunistic infections. Strikingly, lactobacilli dominance appears to be unique to humans; while the relative abundance of lactobacilli in the human vagina is typically >70%, in other mammals lactobacilli rarely comprise more than 1% of vaginal microbiota. Several hypotheses have been proposed to explain humans' unique vaginal microbiota, including humans' distinct reproductive physiology, high risk of STDs, and high risk of microbial complications linked to pregnancy and birth. Here, we test these hypotheses using comparative data on vaginal pH and the relative abundance of lactobacilli in 26 mammalian species and 50 studies ( N = 21 mammals for pH and 14 mammals for lactobacilli relative abundance). We found that non-human mammals, like humans, exhibit the lowest vaginal pH during the period of highest estrogen. However, the vaginal pH of non-human mammals is never as low as is typical for humans (median vaginal pH in humans = 4.5; range of pH across all 21 non-human mammals = 5.4-7.8). Contrary to disease and obstetric risk hypotheses, we found no significant relationship between vaginal pH or lactobacilli relative abundance and multiple metrics of STD or birth injury risk ( P -values ranged from 0.13 to 0.99). Given the lack of evidence for these hypotheses, we discuss two alternative explanations: the common function hypothesis and a novel hypothesis related to the diet of agricultural humans. Specifically, with regard to diet we propose that high levels of starch in human diets have led to increased levels of glycogen in the vaginal tract, which, in turn, promotes the proliferation of lactobacilli. If true, human diet may have paved the way for a novel, protective microbiome in human vaginal tracts. Overall, our results highlight the need for continuing research on non

Vaginal fold prolapse in a dog with pyometra and ovarian papillary cystadenocarcinoma.

PubMed

Zedda, Maria-Teresa; Bogliolo, Luisa; Ariu, Federica; Ledda, Mauro; Falchi, Laura; Pinna-Parpaglia, Maria-Luisa; Pau, Salvatore

2016-04-01

A 7-year-old 42-kg (92.4-lb) sexually intact nulliparous female Italian Mastiff was examined because of a history of vaginal prolapse during diestrus. A physical examination revealed vaginal fold prolapse. Abdominal ultrasonography revealed an enlarged uterus with hypoechogenic content, corpora lutea in the ovaries, and a cyst in the right ovary. Hematologic abnormalities included leukocytosis, neutrophilia, mild anemia, and low Hct. Progesterone and estradiol concentrations were 9.36 ng/mL and 30.42 pg/mL, respectively, in serum and 72.72 ng/mL and 792 pg/mL, respectively, in the ovarian cystic fluid. Ovariohysterectomy was performed; the prolapsed tissue was repositioned by external manipulation and maintained in situ by temporary apposition of the vulvar lips with a retention suture. Anatomic and histologic examinations of the excised tissues revealed pyometra and papillary cystadenocarcinoma in the right ovary. The vaginal hyperplasia completely regressed at 35 days after surgery; 5 months after surgery, the dog's general condition was considered good. Findings in this case were indicative of a hormonally active ovarian papillary cystadenocarcinoma in a female dog in diestrus. Hormone production by the cystadenocarcinoma was the predisposing factor that induced pyometra, mucosal hyperplasia, and vaginal fold prolapse in the dog. On the basis of these concurrent disorders, ovariohysterectomy was an appropriate treatment.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

PubMed Central

O’Connor, Emily; Töpf, Ana; Müller, Juliane S.; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H.

2016-01-01

Abstract Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation. Missense biallelic mutations in the MYO9A gene, encoding an unconventional myosin, were identified in two unrelated families. Depletion of MYO9A in NSC-34 cells revealed a direct effect of MYO9A on neuronal branching and axon guidance. Morpholino-mediated knockdown of the two MYO9A orthologues in zebrafish, myo9aa/ab, demonstrated a requirement for MYO9A in the formation of the neuromuscular junction during development. The morphants displayed shortened and abnormally branched motor axons, lack of movement within the chorion and abnormal swimming in response to tactile stimulation. We therefore conclude that MYO9A deficiency may affect the presynaptic motor axon, manifesting in congenital myasthenic syndrome. These results highlight the involvement of unconventional myosins in motor axon functionality, as well as the need to look outside traditional neuromuscular junction-specific proteins for further congenital myasthenic syndrome candidate genes. PMID:27259756

Congenital anomalies of the optic nerve

PubMed Central

Amador-Patarroyo, Manuel J.; Pérez-Rueda, Mario A.; Tellez, Carlos H.

2014-01-01

Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology (e.g., neuroimaging and genetic analysis advances in recent years) has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management (when plausible) for them. PMID:25859137

Clothing factors and vaginitis.

PubMed

Heidrich, F E; Berg, A O; Bergman, J J

1984-10-01

Associations of clothing factors and vulvovaginal symptoms, signs, and microbiology were sought in 203 women seeking care at a university family medicine clinic. Clothing factors studied were use of panty hose, underwear for sleep, cotton lining panels, and pants vs skirts. Women wearing and not wearing panty hose had similar rates of vaginitis symptoms and signs, but yeast vaginitis was about three times more common among wearers. Relationships of other clothing factors to vaginitis were not found. Nonspecific vaginitis was not found to be related to clothing.

Update: Interim Guidance for the Diagnosis, Evaluation, and Management of Infants with Possible Congenital Zika Virus Infection - United States, October 2017.

PubMed

Adebanjo, Tolulope; Godfred-Cato, Shana; Viens, Laura; Fischer, Marc; Staples, J Erin; Kuhnert-Tallman, Wendi; Walke, Henry; Oduyebo, Titilope; Polen, Kara; Peacock, Georgina; Meaney-Delman, Dana; Honein, Margaret A; Rasmussen, Sonja A; Moore, Cynthia A

2017-10-20

CDC has updated its interim guidance for U.S. health care providers caring for infants with possible congenital Zika virus infection (1) in response to recently published updated guidance for health care providers caring for pregnant women with possible Zika virus exposure (2), unknown sensitivity and specificity of currently available diagnostic tests for congenital Zika virus infection, and recognition of additional clinical findings associated with congenital Zika virus infection. All infants born to mothers with possible Zika virus exposure* during pregnancy should receive a standard evaluation at birth and at each subsequent well-child visit including a comprehensive physical examination, age-appropriate vision screening and developmental monitoring and screening using validated tools (3-5), and newborn hearing screen at birth, preferably using auditory brainstem response (ABR) methodology (6). Specific guidance for laboratory testing and clinical evaluation are provided for three clinical scenarios in the setting of possible maternal Zika virus exposure: 1) infants with clinical findings consistent with congenital Zika syndrome regardless of maternal testing results, 2) infants without clinical findings consistent with congenital Zika syndrome who were born to mothers with laboratory evidence of possible Zika virus infection, † and 3) infants without clinical findings consistent with congenital Zika syndrome who were born to mothers without laboratory evidence of possible Zika virus infection. Infants in the first two scenarios should receive further testing and evaluation for Zika virus, whereas for the third group, further testing and clinical evaluation for Zika virus are not recommended. Health care providers should remain alert for abnormal findings (e.g., postnatal-onset microcephaly and eye abnormalities without microcephaly) in infants with possible congenital Zika virus exposure without apparent abnormalities at birth.

The interaction between vaginal microbiota, cervical length, and vaginal progesterone treatment for preterm birth risk.

PubMed

Kindinger, Lindsay M; Bennett, Phillip R; Lee, Yun S; Marchesi, Julian R; Smith, Ann; Cacciatore, Stefano; Holmes, Elaine; Nicholson, Jeremy K; Teoh, T G; MacIntyre, David A

2017-01-19

Preterm birth is the primary cause of infant death worldwide. A short cervix in the second trimester of pregnancy is a risk factor for preterm birth. In specific patient cohorts, vaginal progesterone reduces this risk. Using 16S rRNA gene sequencing, we undertook a prospective study in women at risk of preterm birth (n = 161) to assess (1) the relationship between vaginal microbiota and cervical length in the second trimester and preterm birth risk and (2) the impact of vaginal progesterone on vaginal bacterial communities in women with a short cervix. Lactobacillus iners dominance at 16 weeks of gestation was significantly associated with both a short cervix <25 mm (n = 15, P < 0.05) and preterm birth <34 +0  weeks (n = 18; P < 0.01; 69% PPV). In contrast, Lactobacillus crispatus dominance was highly predictive of term birth (n = 127, 98% PPV). Cervical shortening and preterm birth were not associated with vaginal dysbiosis. A longitudinal characterization of vaginal microbiota (<18, 22, 28, and 34 weeks) was then undertaken in women receiving vaginal progesterone (400 mg/OD, n = 25) versus controls (n = 42). Progesterone did not alter vaginal bacterial community structure nor reduce L. iners-associated preterm birth (<34 weeks). L. iners dominance of the vaginal microbiota at 16 weeks of gestation is a risk factor for preterm birth, whereas L. crispatus dominance is protective against preterm birth. Vaginal progesterone does not appear to impact the pregnancy vaginal microbiota. Patients and clinicians who may be concerned about "infection risk" associated with the use of a vaginal pessary during high-risk pregnancy can be reassured.

Growth and development of infants with asymptomatic congenital cytomegalovirus infection.

PubMed

Shan, Ruobing; Wang, Xiaoliang; Fu, Ping

2009-10-31

To observe changes in audiology, intellectual development, behavior development, and physical growth during systematic follow-up of infants with asymptomatic congenital human cytomegalovirus (HCMV) infection. Fifty-two infants diagnosed with asymptomatic congenital HCMV infection from July 2003 to July 2007 served as the infection group, and 21 healthy infants served as the control group. All infants were confirmed to have HCMV infection by Fluorescent Quantative polymerase chain reaction (FQ-PCR). In both the infection and control groups, the neonates and infants at 3 months, 6 months, and 1 year of age underwent examinations. 1) 20 items of National Black Nurses Association (NBNA) scores of neonates 12-14 days after birth in 2 groups were 38.3 +/- 1.95 and 38.5 +/- 2.29, without significant differences. 2) Auditory test: 50 ears of 25 cases in the infection group showed abnormal auditory thresholds in V waves with an abnormal rate of 14%, while no abnormalities were found in 21 cases in the control group. 3) Mental and psychomotor development index scores in the control group (107.49 +/- 11.31 and 107.19 +/- 10.98) were compared with those in 41 asymptomatically infected infants at 1 year of age (107.21 +/- 9.96 and 108.31 +/- 11.25), and no statistically significant difference was noted. 1) An elevated threshold in the V wave was present in asymptomatically infected infants, but could not be detected through otoacoustic emission (OAE) screening. 2) Either in the neonatal or infant periods, asymptomatic congenital HCMV infection did not have a significant influence on nervous behavior or on physical and intellectual development.

Effect of vaginal or systemic estrogen on dynamics of collagen assembly in the rat vaginal wall.

PubMed

Montoya, T Ignacio; Maldonado, P Antonio; Acevedo, Jesus F; Word, R Ann

2015-02-01

The objective of this study was to compare the effects of systemic and local estrogen treatment on collagen assembly and biomechanical properties of the vaginal wall. Ovariectomized nulliparous rats were treated with estradiol or conjugated equine estrogens (CEEs) either systemically, vaginal CEE, or vaginal placebo cream for 4 wk. Low-dose local CEE treatment resulted in increased vaginal epithelial thickness and significant vaginal growth without uterine hyperplasia. Furthermore, vaginal wall distensibility increased without compromise of maximal force at failure. Systemic estradiol resulted in modest increases in collagen type I with no change in collagen type III mRNA. Low-dose vaginal treatment, however, resulted in dramatic increases in both collagen subtypes whereas moderate and high dose local therapies were less effective. Consistent with the mRNA results, low-dose vaginal estrogen resulted in increased total and cross-linked collagen content. The inverse relationship between vaginal dose and collagen expression may be explained in part by progressive downregulation of estrogen receptor-alpha mRNA with increasing estrogen dose. We conclude that, in this menopausal rat model, local estrogen treatment increased total and cross-linked collagen content and markedly stimulated collagen mRNA expression in an inverse dose-effect relationship. High-dose vaginal estrogen resulted in downregulation of estrogen receptor-alpha and loss of estrogen-induced increases in vaginal collagen. These results may have important clinical implications regarding the use of local vaginal estrogen therapy and its role as an adjunctive treatment in women with loss of vaginal support. © 2015 by the Society for the Study of Reproduction, Inc.

Congenital dacryocystocele.

PubMed

Harris, G J; DiClementi, D

1982-11-01

Four cases of congenital lacrimal sac distention were managed in an initially conservative manner to further elucidate the natural history of the condition and to formulate a more systematic approach to its treatment. In three cases, the abnormality resolved without nasolacrimal duct probing, with no adverse sequelae. In one case, dacryocystitis caused by Serratia marcescens, corneal astigmatism, and severe canthal distortion prompted surgical intervention. The management of individual cases of dacryocystocele should be influenced by the presence of inflammation, the virulence of any infecting organisms, the induction of astigmatism and anisometropia, and the degree of canthal distortion. Dacryocystocele appears to be a more specific term for lacrimal sac distention than either amniotocele or mucocele, and is not restricted to only one source of its fluid contents.

Poland syndrome a rare congenital anomaly.

PubMed

Ibrahim, Aliyu; Ramatu, Abdallah; Helen, Akhiwu

2013-07-01

Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight-year-old Nigerian girl with left-sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall.

Sleep-Disordered Breathing in Patients with Pulmonary Valve Incompetence Complicating Congenital Heart Disease.

PubMed

Miles, Susan; Ahmad, Waheed; Bailey, Amy; Hatton, Rachael; Boyle, Andrew; Collins, Nicholas

2016-12-01

Long standing pulmonary regurgitation results in deleterious effects on right heart size and function with late consequences of right heart volume overload including ventricular dilatation, propensity to arrhythmia and right heart failure. As sleep disordered breathing may predispose to elevations in pulmonary vascular resistance and associated negative effects on right ventricular function, we sought to assess this in patients with underlying congenital heart disease. We performed a pilot study to evaluate the incidence of sleep-disordered breathing in a patient population with a history of long standing pulmonary valve incompetence in patients with congenital heart disease using overnight oximetry. Patients with a background of tetralogy of Fallot repair or residual pulmonary incompetence following previous pulmonary valve intervention for congenital pulmonary stenosis were included. Twenty-two patients underwent overnight oximetry. The mean age of the cohort was 34.3 ± 15.2 years with no patients observed to have severe underlying pulmonary hypertension. Abnormal overnight oximetry was seen in 13/22 patients (59.1%) with 2/22 (9.1%) patients considered to have severe abnormalities. An important proportion of patients with a background of pulmonary incompetence complicating congenital heart disease are prone to the development of sleep-disordered breathing as assessed by overnight oximetry. Further study into the prevalence and mechanisms of sleep-disordered breathing in a larger cohort are warranted. © 2016 Wiley Periodicals, Inc.

Assisted Vaginal Delivery

MedlinePlus

... Patient Education FAQs Assisted Vaginal Delivery Patient Education Pamphlets - Spanish Assisted Vaginal Delivery FAQ192, February 2016 PDF ... on Patient Safety For Patients Patient FAQs Spanish Pamphlets Teen Health About ACOG About Us Leadership & Governance ...

Vaginal estrogen: a dual-edged sword in postoperative healing of the vaginal wall.

PubMed

Ripperda, Christopher M; Maldonado, Pedro Antonio; Acevedo, Jesus F; Keller, Patrick W; Akgul, Yucel; Shelton, John M; Word, Ruth Ann

2017-07-01

Reconstructive surgery for pelvic organ prolapse is plagued with high failure rates possibly due to impaired healing or regeneration of the vaginal wall. Here, we tested the hypothesis that postoperative administration of local estrogen, direct injection of mesenchymal stem cells (MSCs), or both lead to improved wound healing of the injured vagina in a menopausal rat model. Ovariectomized rats underwent surgical injury to the posterior vaginal wall and were randomized to treatment with placebo (n = 41), estrogen cream (n = 47), direct injection of MSCs (n = 39), or both (n = 43). MSCs did not survive after injection and had no appreciable effects on healing of the vaginal wall. Acute postoperative administration of vaginal estrogen altered the response of the vaginal wall to injury with decreased stiffness, decreased collagen content, and decreased expression of transcripts for matrix components in the stromal compartment. Conversely, vaginal estrogen resulted in marked proliferation of the epithelial layer and increased expression of genes related to epithelial barrier function and protease inhibition. Transcripts for genes involved in chronic inflammation and adaptive immunity were also down-regulated in the estrogenized epithelium. Collectively, these data indicate that, in contrast to the reported positive effects of preoperative estrogen on the uninjured vagina, acute administration of postoperative vaginal estrogen has adverse effects on the early phase of healing of the stromal layer. In contrast, postoperative estrogen plays a positive role in healing of the vaginal epithelium after injury.

Vaginal estrogen: a dual-edged sword in postoperative healing of the vaginal wall

PubMed Central

Ripperda, Christopher M.; Maldonado, Pedro Antonio; Acevedo, Jesus F.; Keller, Patrick W.; Akgul, Yucel; Shelton, John M.; Word, Ruth Ann

2017-01-01

Abstract Objective: Reconstructive surgery for pelvic organ prolapse is plagued with high failure rates possibly due to impaired healing or regeneration of the vaginal wall. Here, we tested the hypothesis that postoperative administration of local estrogen, direct injection of mesenchymal stem cells (MSCs), or both lead to improved wound healing of the injured vagina in a menopausal rat model. Methods: Ovariectomized rats underwent surgical injury to the posterior vaginal wall and were randomized to treatment with placebo (n = 41), estrogen cream (n = 47), direct injection of MSCs (n = 39), or both (n = 43). Results: MSCs did not survive after injection and had no appreciable effects on healing of the vaginal wall. Acute postoperative administration of vaginal estrogen altered the response of the vaginal wall to injury with decreased stiffness, decreased collagen content, and decreased expression of transcripts for matrix components in the stromal compartment. Conversely, vaginal estrogen resulted in marked proliferation of the epithelial layer and increased expression of genes related to epithelial barrier function and protease inhibition. Transcripts for genes involved in chronic inflammation and adaptive immunity were also down-regulated in the estrogenized epithelium. Conclusions: Collectively, these data indicate that, in contrast to the reported positive effects of preoperative estrogen on the uninjured vagina, acute administration of postoperative vaginal estrogen has adverse effects on the early phase of healing of the stromal layer. In contrast, postoperative estrogen plays a positive role in healing of the vaginal epithelium after injury. PMID:28169915

Lactobacilli Dominance and Vaginal pH: Why Is the Human Vaginal Microbiome Unique?

PubMed Central

Miller, Elizabeth A.; Beasley, DeAnna E.; Dunn, Robert R.; Archie, Elizabeth A.

2016-01-01

The human vaginal microbiome is dominated by bacteria from the genus Lactobacillus, which create an acidic environment thought to protect women against sexually transmitted pathogens and opportunistic infections. Strikingly, lactobacilli dominance appears to be unique to humans; while the relative abundance of lactobacilli in the human vagina is typically >70%, in other mammals lactobacilli rarely comprise more than 1% of vaginal microbiota. Several hypotheses have been proposed to explain humans' unique vaginal microbiota, including humans' distinct reproductive physiology, high risk of STDs, and high risk of microbial complications linked to pregnancy and birth. Here, we test these hypotheses using comparative data on vaginal pH and the relative abundance of lactobacilli in 26 mammalian species and 50 studies (N = 21 mammals for pH and 14 mammals for lactobacilli relative abundance). We found that non-human mammals, like humans, exhibit the lowest vaginal pH during the period of highest estrogen. However, the vaginal pH of non-human mammals is never as low as is typical for humans (median vaginal pH in humans = 4.5; range of pH across all 21 non-human mammals = 5.4–7.8). Contrary to disease and obstetric risk hypotheses, we found no significant relationship between vaginal pH or lactobacilli relative abundance and multiple metrics of STD or birth injury risk (P-values ranged from 0.13 to 0.99). Given the lack of evidence for these hypotheses, we discuss two alternative explanations: the common function hypothesis and a novel hypothesis related to the diet of agricultural humans. Specifically, with regard to diet we propose that high levels of starch in human diets have led to increased levels of glycogen in the vaginal tract, which, in turn, promotes the proliferation of lactobacilli. If true, human diet may have paved the way for a novel, protective microbiome in human vaginal tracts. Overall, our results highlight the need for continuing research on non

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

PubMed

Ariss, Michelle; Natan, Kristina; Friedman, Neil; Traboulsi, Elias I

2012-09-01

Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.

Congenital Differences of the Upper Extremity: Classification and Treatment Principles

PubMed Central

2011-01-01

For hand surgeons, the treatment of children with congenital differences of the upper extremity is challenging because of the diverse spectrum of conditions encountered, but the task is also rewarding because it provides surgeons with the opportunity to impact a child's growth and development. An ideal classification of congenital differences of the upper extremity would reflect the full spectrum of morphologic abnormalities and encompass etiology, a guide to treatment, and provide prognoses. In this report, I review current classification systems and discuss their contradictions and limitations. In addition, I present a modified classification system and provide treatment principles. As our understanding of the etiology of congenital differences of the upper extremity increases and as experience of treating difficult cases accumulates, even an ideal classification system and optimal treatment strategies will undoubtedly continue to evolve. PMID:21909463

The incidence of chromosome abnormalities in neonates with structural heart disease.

PubMed

Dykes, John C; Al-mousily, Mohammad F; Abuchaibe, Eda-Cristina; Silva, Jennifer N; Zadinsky, Jennifer; Duarte, Daniel; Welch, Elizabeth

2016-04-01

This study was conducted to determine the prevalence of chromosomal anomalies in newborns with structural heart disease admitted to the cardiac intensive care unit (CICU) at Nicklaus Children's Hospital (NCH). A retrospective review identified newborns age 30 days or less admitted to NCH CICU between 2004 and 2010. Patients with structural heart disease who required admission to our CICU and received karyotype or karyotype and fluorescent in situ hybridization (FISH) testing were included in the study. All patients were examined for the presence of dysmorphic features. Four hundred and eighty-two patients met the criteria for the study; 405 (84%) received both karyotype and FISH. Chromosome abnormalities were present in 86 (17.8%) patients. Syndromes accounted for 20 (5.1%) of those with normal chromosomes. Dysmorphic features were seen in 79.1% of patients with abnormal chromosomes and 25.5% of those with normal chromosomes. All patients with syndromes were dysmorphic. Race and gender did not significantly affect the incidence of genetic abnormalities. Chromosome abnormalities, including syndromes, are prevalent in newborns with congenital heart disease. Further research is needed to evaluate the utility of cytogenetic screening in all children with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Quantification of normal vaginal constituents using a new wet preparation technique.

PubMed

Fowler, R Stuart

2012-10-01

abnormal patterns can be demarcated and (2) treatment targets of what constitutes healthy vaginal conditions can be provided.

Diagnosis and clinical characteristics of congenital anosmia: case series report.

PubMed

Qu, Qiuyi; Liu, Jianfeng; Ni, Daofeng; Zhang, Qiuhang; Yang, Dazhang; Wang, Naya; Wu, Xueyan; Han, Honglei

2010-12-01

congenital anosmia is extremely rare and tends to present late. We report on a series of patients with congenital anosmia to analyze its clinical characteristics and present illustrative cases. retrospective chart review. tertiary care centre. thirty-five patients with congenital anosmia were reviewed. A thorough medical history taking, physical examination, and nasal endoscopy were performed in all patients. T&T olfactory testing (n = 33), olfactory event-related potentials (OERPs) (n = 33), and sinonasal computed tomography (CT) (n = 35) were carried out. Magnetic resonance images (MRIs) of the olfactory pathway (n = 34) were available. Serum sex hormones were tested (n = 33). physical examination, olfactory testing, MRI of the olfactory pathway, and serum sex hormones. twenty cases were isolated congenital anosmia (ICA). Fifteen cases were congenital anosmia with other anomalies, including 12 cases with Kallmann syndrome (KS), two with CHARGE syndrome, and one with hypoplasia of the nasal cavity and nasal sinus. T&T olfactory testing indicated anosmia (n = 33). No OERP was obtained (n = 33). CT scans indicated three abnormal patients, including two with unilateral choanal atresia and one with hypoplasia of the nasal cavity and sinus. MRI demonstrated aplasia or hypoplasia of the olfactory bulbs, tracts, and olfactory sulci (n = 34). Serum sex hormones were low in 12 patients with KS. early diagnosis of congenital anosmia on the basis of olfactory symptoms is difficult. MRI of the olfactory pathway plays an important role in anatomic location. ICA is the most common congenital anosmia. KS is the primary presentation of congenital anosmia with other anomalies.

True vaginal prolapse in a bitch.

PubMed

Alan, M; Cetin, Y; Sendag, S; Eski, F

2007-08-01

Frequently, vaginal fold prolapse is the protrusion of edematous vaginal tissue into and through the opening of the vulva occurring during proestrus and estrus stages of the sexual cycle. True vaginal prolapse may occur near parturition, as the concentration of serum progesterone declines and the concentration of serum oestrogen increases. In the bitch, this type of true vaginal prolapse is a very rare condition. This short communication describes a 5-year-old female, cross-breed dog in moderate condition, weighing 33 kg, with distocia and true vaginal prolapse. Abdominal palpation and transabdominal ultrasonography revealed live and dead foetuses in the uterine horns. One dead and four live fetuses were removed from uterus by cesarean section. The ovariohysterectomy was performed after repositioning the vaginal wall with a combination of traction from within the abdomen and external manipulation through the vulva. Re-occurrence of a vaginal prolapse was not observed and the bitch recovered completely after the surgical therapy. Compared to other vaginal disorders, vaginal prolapse is an uncommon condition in the bitch. In the present case, extreme tenesmus arising from distocia may have predisposed to the vaginal prolapse. The cause of dystocia was probably the disposition of the first foetus. We concluded that the vaginal prolapse was the result of dystocia in the present case.

Evaluation of athletes with complex congenital heart disease.

PubMed

Bates, Benjamin A; Richards, Camille; Hall, Michael; Kerut, Edmund K; Campbell, William; McMullan, Michael R

2017-06-01

As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity. This case study demonstrates the importance of combining all aspects of history, physical examination, ECG, and imaging modalities to evaluate cardiac anatomy and function in young athletes with complex CHD. © 2017, Wiley Periodicals, Inc.

A large, population-based study of age-related associations between vaginal pH and human papillomavirus infection.

PubMed

Clarke, Megan A; Rodriguez, Ana Cecilia; Gage, Julia C; Herrero, Rolando; Hildesheim, Allan; Wacholder, Sholom; Burk, Robert; Schiffman, Mark

2012-02-08

Vaginal pH is related to genital tract inflammation and changes in the bacterial flora, both suggested cofactors for persistence of human papillomavirus (HPV) infection. To evaluate the relationship between vaginal pH and HPV, we analyzed data from our large population-based study in Guanacaste, Costa Rica. We examined vaginal pH and the risk of HPV infection, cytological abnormalities, and C. trachomatis infection. Our study included 9,165 women aged 18-97 at enrollment with a total of 28,915 visits (mean length of follow-up = 3.4 years). Generalized estimating equations were used to evaluate the relationship between vaginal pH and HPV infection (both overall and single versus multiple types) and low-grade squamous intraepithelial lesions (LSIL), the cytomorphic manifestation of HPV infection. The relationship between enrollment vaginal pH and C. trachomatis infection was assessed by logistic regression. Results were stratified by age at visit. Detection of HPV was positively associated with vaginal pH, mainly in women < 35 years (p-trend = 0.009 and 0.007 for women aged < 25 and 25-34 years, respectively). Elevated vaginal pH was associated with 30% greater risk of infection with multiple HPV types and with LSIL, predominantly in women younger than 35 and 65+ years of age. Detection of C. trachomatis DNA was associated with increased vaginal pH in women < 25 years (OR 2.2 95% CI 1.0-5.0). Our findings suggest a possible association of the cervical microenvironment as a modifier of HPV natural history in the development of cervical precancer and cancer. Future research should include studies of vaginal pH in a more complex assessment of hormonal changes and the cervicovaginal microbiome as they relate to the natural history of cervical neoplasia.

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature.

PubMed

Guevara, Jade Gieseke; Agarwal-Sinha, Swati

2018-06-09

As the number of children with Zika virus-related complications grows, the long-term developmental trajectory and its effects on families are unknown. We present the first known case of congenital Zika syndrome seen at our institution with significant fundus findings. A 3-day-old Hispanic baby girl presented with severe microcephaly of 24 cm and temperature instability at birth. Her mother had traveled to Honduras early in pregnancy and testing of amniotic fluid was positive for Zika virus via polymerase chain reaction. A dilated fundus examination was significant for bilateral severe colobomatous chorioretinal atrophy of the macula and pigmentary changes. Neonatal magnetic resonance imaging revealed diffuse lissencephaly with decreased brain volume, atrophic corpus callosum and brainstem, periventricular calcifications, and ventriculomegaly of the lateral ventricles. Our patient, who presented with the first known case of congenital Zika syndrome in Northern Florida, demonstrated profound bilateral colobomatous chorioretinal atrophy of the macula. The ophthalmologic findings along with severe microcephaly emphasize the neurotropism of the Zika virus, and ultimately are indicative of poor developmental and visual prognosis for affected infants. With the increased prevalence of Zika virus, ophthalmologists should be aware of the associated findings and the importance of an eye-screening examination with a dilated fundus examination within 1 month of life of infants in which congenital Zika syndrome is suspected. A multidisciplinary care approach is essential for the care of affected infants and their families.

Fundus autofluorescence and optical coherence tomography of congenital grouped albinotic spots.

PubMed

Kim, David Y; Hwang, John C; Moore, Anthony T; Bird, Alan C; Tsang, Stephen H

2010-09-01

The purpose of this study was to describe the findings of fundus autofluores-cence (FAF) and optical coherence tomography in a series of patients with congenital grouped albinotic spots. Three eyes of three patients with congenital grouped albinotic spots were evaluated with FAF and optical coherence tomography imaging to evaluate the nature of the albinotic spots. In all three eyes with congenital grouped albinotic spots, FAF imaging showed autofluorescent spots corresponding to the albinotic spots seen on stereo biomicroscopy. One eye also had additional spots detected on FAF imaging that were not visible on stereo biomicroscopy or color fundus photographs. Fundus autofluorescence imaging of the spots showed decreased general autofluorescence and decreased peripheral autofluorescence surrounding central areas of retained or increased autofluorescence. Optical coherence tomography showed a disruption in signal from the hyperreflective layer corresponding to the inner and outer segment junction and increased signal backscattering from the choroid in the area of the spots. Fluorescein angiography showed early and stable hyperfluorescence of the spots without leakage. In this case series, FAF showed decreased autofluorescence of the spots consistent with focal retinal pigment epithelium atrophy or abnormal material blocking normal autofluorescence and areas of increased autofluorescence suggesting retinal pigment epithelium dysfunction. The findings of optical coherence tomography and fluorescein angiography suggest photoreceptor and retinal pigment epithelium layer abnormalities. Fundus autofluorescence and optical coherence tomography are useful noninvasive diagnostic adjuncts that can aid in the diagnosis of congenital grouped albinotic spots, help determine extent of disease, and contribute to our understanding of its pathophysiology.

Dinoprostone vaginal insert versus intravenous oxytocin to reduce postpartum blood loss following vaginal or cesarean delivery.

PubMed

Ozalp, E; Tanir, H M; Sener, T

2010-01-01

To compare the impact of a dinoprostone vaginal insert and intravenous oxytocin in reducing blood loss of women undergoing vaginal or cesarean delivery. This study was conducted among term singleton pregnancies delivered vaginally or by elective cesarean section. In the vaginally delivered cases, active management of the third stage of labor was conducted. During cesarean delivery, 20 IU of intravenous oxytocin was administered. Women, who either delivered via the vaginal or abdominal route, were then randomly allocated to receive 10 mg vaginal dinoprostone insert for 12 hours (group I, n: 100) or intravenous oxytocin (group II, n: 100), respectively. Mean blood loss and need for additional uterotonics and postpartum hemoglobin and hematocrit levels at 24 and 36 hours after delivery did not differ between the two groups. Women allocated to the dinoprostone vaginal insert arm experienced more nausea and vomiting. Dinoprostone vaginal insert was as effective as intravenous oxytocin in the prevention of postpartum blood loss.

Megabladder mouse model of congenital obstructive nephropathy: genetic etiology and renal adaptation.

PubMed

McHugh, Kirk M

2014-04-01

Congenital obstructive nephropathy remains one of the leading causes of chronic renal failure in children. The direct link between obstructed urine flow and abnormal renal development and subsequent dysfunction represents a central paradigm of urogenital pathogenesis that has far-reaching clinical implications. Even so, a number of diagnostic, prognostic, and therapeutic quandaries still exist in the management of congenital obstructive nephropathy. Studies in our laboratory have characterized a unique mutant mouse line that develops in utero megabladder, variable hydronephrosis, and progressive renal failure. Megabladder mice represent a valuable functional model for the study of congenital obstructive nephropathy. Recent studies have begun to shed light on the genetic etiology of mgb (-/-) mice as well as the molecular pathways controlling disease progression in these animals.

Evaluation of vaginal complaints.

PubMed

Anderson, Matthew R; Klink, Kathleen; Cohrssen, Andreas

2004-03-17

Vaginal symptoms are one of the most common reasons for gynecological consultation. Clinicians have traditionally diagnosed vaginal candidiasis, bacterial vaginosis, and vaginal trichomoniasis using some combination of physical examination, pH, the wet mount, and the whiff test. To evaluate the role of the clinical examination and determine the positive and negative likelihood ratios (LRs) for the diagnosis of vaginal candidiasis, bacterial vaginosis, and vaginal trichomoniasis. Using a structured literature review, we abstracted information on sensitivity and specificity for symptoms, signs, and office laboratory procedures. We chose published (1966 to April 2003) articles that appeared in the MEDLINE database and were indexed under the combined search terms of diagnosis with vaginitis, vaginal discharge, candidiasis, bacterial vaginosis, and trichomoniasis. Included studies of symptomatic premenopausal women seen in primary care settings. Tests were evaluated only if they would provide diagnostic information during the office visit and were compared with an acceptable criterion standard. All 3 authors extracted the data and computed sensitivity and specificity from each article independently. The absence of standard definitions for symptoms and signs made it impossible to combine results across studies. Symptoms alone do not allow clinicians to distinguish confidently between the causes of vaginitis. However, a patient's lack of itching makes candidiasis less likely (range of LRs, 0.18 [95% confidence interval [CI], 0.05-0.70] to 0.79 [95% CI, 0.72-0.87]) and lack of perceived odor makes bacterial vaginosis unlikely (LR, 0.07 [95% CI, 0.01-0.51]). Similarly, physical examination signs are limited in their diagnostic power. The presence of inflammatory signs is associated with candidiasis (range of LRs, 2.1 [95% CI, 1.5-2.8] to 8.4 [95% CI, 2.3-31]). Presence of a "high cheese" odor on examination is predictive of bacterial vaginosis (LR, 3.2 [95% CI, 2

Management of vaginal extrusion after tension-free vaginal tape procedure for urodynamic stress incontinence.

PubMed

Giri, Subhasis K; Sil, Debasri; Narasimhulu, Girish; Flood, Hugh D; Skehan, Mark; Drumm, John

2007-06-01

To report our experience in the management of vaginal extrusion after the tension-free vaginal tape (TVT) procedure for urodynamic stress incontinence. Five patients diagnosed with vaginal extrusion after a TVT procedure performed at our institution were identified. We reviewed the patients' records retrospectively. The interval from TVT placement to diagnosis, presenting symptoms and signs, duration of symptoms, diagnostic test findings, treatment, and postoperative results were recorded. Patients were followed up for at least 12 months. From January 2001 to June 2004, a total of 166 patients underwent the TVT procedure. Of these, 5 patients (3%) were diagnosed with isolated vaginal extrusion 4 to 40 months postoperatively. No cases of urethral or bladder erosion occurred in this series. The symptoms included vaginal discharge, pain, bleeding, and dyspareunia. The eroded margin of the vaginal mucosa was trimmed, mobilized, and closed over the tape with interrupted vertical mattress sutures in a single layer using 2-0 polyglactin 910 to avoid mucosal inversion. All patients remained symptom free without any evidence of defective healing or additional extrusion at a minimal follow-up of 12 months. Primary reclosure of the vaginal mucosa over the TVT tape is an effective first-line treatment option for vaginal extrusion without compromising continence. Patients undergoing the TVT procedure should be adequately counseled about the possibility of this complication and the available treatment options.

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

PubMed Central

Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

2013-01-01

Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID:23399831

Vaginitis: current microbiologic and clinical concepts.

PubMed Central

Hill, L V; Embil, J A

1986-01-01

Infectious vaginitis occurs when the normal vaginal flora is disrupted; it may arise when saprophytes overwhelm the host immune response, when pathogenic organisms are introduced into the vagina or when changes in substrate allow an imbalance of microorganisms to develop. Examples of these types of vaginitis include the presence of chronic fungal infection in women with an inadequate cellular immune response to the yeast, the introduction of trichomonads into vaginal epithelium that has a sufficient supply of glycogen, and the alteration in bacterial flora, normally dominated by Lactobacillus spp., and its metabolites that is characteristic of "nonspecific vaginitis". The authors review microbiologic and clinical aspects of the fungal, protozoal and bacterial infections, including the interactions of bacteria thought to produce nonspecific vaginitis, that are now recognized as causing vaginitis. Other causes of vaginitis are also discussed. PMID:3510698

Vaginitis: current microbiologic and clinical concepts.

PubMed

Hill, L V; Embil, J A

1986-02-15

Infectious vaginitis occurs when the normal vaginal flora is disrupted; it may arise when saprophytes overwhelm the host immune response, when pathogenic organisms are introduced into the vagina or when changes in substrate allow an imbalance of microorganisms to develop. Examples of these types of vaginitis include the presence of chronic fungal infection in women with an inadequate cellular immune response to the yeast, the introduction of trichomonads into vaginal epithelium that has a sufficient supply of glycogen, and the alteration in bacterial flora, normally dominated by Lactobacillus spp., and its metabolites that is characteristic of "nonspecific vaginitis". The authors review microbiologic and clinical aspects of the fungal, protozoal and bacterial infections, including the interactions of bacteria thought to produce nonspecific vaginitis, that are now recognized as causing vaginitis. Other causes of vaginitis are also discussed.

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

PubMed

Baris, S; Karakoc-Aydiner, E; Ozen, A; Delil, K; Kiykim, A; Ogulur, I; Baris, I; Barlan, I B

2015-05-01

Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.

Abnormalities of the QT interval in primary disorders of autonomic failure

NASA Technical Reports Server (NTRS)

Choy, A. M.; Lang, C. C.; Roden, D. M.; Robertson, D.; Wood, A. J.; Robertson, R. M.; Biaggioni, I.

1998-01-01

BACKGROUND: Experimental evidence shows that activation of the autonomic nervous system influences ventricular repolarization and, therefore, the QT interval on the ECG. To test the hypothesis that the QT interval is abnormal in autonomic dysfunction, we examined ECGs in patients with severe primary autonomic failure and in patients with congenital dopamine beta-hydroxylase (DbetaH) deficiency who are unable to synthesize norepinephrine and epinephrine. SUBJECTS AND METHODS: Maximal QT and rate-corrected QT (QTc) intervals and adjusted QTc dispersion [(maximal QTc - minimum QTc on 12 lead ECG)/square root of the number of leads measured] were determined in blinded fashion from ECGs of 67 patients with primary autonomic failure (36 patients with multiple system atrophy [MSA], and 31 patients with pure autonomic failure [PAF]) and 17 age- and sex-matched healthy controls. ECGs of 5 patients with congenital DbetaH deficiency and 6 age- and sex-matched controls were also analyzed. RESULTS: Patients with MSA and PAF had significantly prolonged maximum QTc intervals (492+/-58 ms(1/2) and 502+/-61 ms(1/2) [mean +/- SD]), respectively, compared with controls (450+/-18 ms(1/2), P < .05 and P < .01, respectively). A similar but not significant trend was observed for QT. QTc dispersion was also increased in MSA (40+/-20 ms(1/2), P < .05 vs controls) and PAF patients (32+/-19 ms(1/2), NS) compared with controls (21+/-5 ms(1/2)). In contrast, patients with congenital DbetaH deficiency did not have significantly different RR, QT, QTc intervals, or QTc dispersion when compared with controls. CONCLUSIONS: Patients with primary autonomic failure who have combined parasympathetic and sympathetic failure have abnormally prolonged QT interval and increased QT dispersion. However, QT interval in patients with congenital DbetaH deficiency was not significantly different from controls. It is possible, therefore, that QT abnormalities in patients with primary autonomic failure are not

Abnormalities of the QT interval in primary disorders of autonomic failure.

PubMed

Choy, A M; Lang, C C; Roden, D M; Robertson, D; Wood, A J; Robertson, R M; Biaggioni, I

1998-10-01

Experimental evidence shows that activation of the autonomic nervous system influences ventricular repolarization and, therefore, the QT interval on the ECG. To test the hypothesis that the QT interval is abnormal in autonomic dysfunction, we examined ECGs in patients with severe primary autonomic failure and in patients with congenital dopamine beta-hydroxylase (DbetaH) deficiency who are unable to synthesize norepinephrine and epinephrine. Maximal QT and rate-corrected QT (QTc) intervals and adjusted QTc dispersion [(maximal QTc - minimum QTc on 12 lead ECG)/square root of the number of leads measured] were determined in blinded fashion from ECGs of 67 patients with primary autonomic failure (36 patients with multiple system atrophy [MSA], and 31 patients with pure autonomic failure [PAF]) and 17 age- and sex-matched healthy controls. ECGs of 5 patients with congenital DbetaH deficiency and 6 age- and sex-matched controls were also analyzed. Patients with MSA and PAF had significantly prolonged maximum QTc intervals (492+/-58 ms(1/2) and 502+/-61 ms(1/2) [mean +/- SD]), respectively, compared with controls (450+/-18 ms(1/2), P < .05 and P < .01, respectively). A similar but not significant trend was observed for QT. QTc dispersion was also increased in MSA (40+/-20 ms(1/2), P < .05 vs controls) and PAF patients (32+/-19 ms(1/2), NS) compared with controls (21+/-5 ms(1/2)). In contrast, patients with congenital DbetaH deficiency did not have significantly different RR, QT, QTc intervals, or QTc dispersion when compared with controls. Patients with primary autonomic failure who have combined parasympathetic and sympathetic failure have abnormally prolonged QT interval and increased QT dispersion. However, QT interval in patients with congenital DbetaH deficiency was not significantly different from controls. It is possible, therefore, that QT abnormalities in patients with primary autonomic failure are not solely caused by lesions of the sympathetic nervous system

Effect of Vaginal or Systemic Estrogen on Dynamics of Collagen Assembly in the Rat Vaginal Wall1

PubMed Central

Montoya, T. Ignacio; Maldonado, P. Antonio; Acevedo, Jesus F.; Word, R. Ann

2014-01-01

ABSTRACT The objective of this study was to compare the effects of systemic and local estrogen treatment on collagen assembly and biomechanical properties of the vaginal wall. Ovariectomized nulliparous rats were treated with estradiol or conjugated equine estrogens (CEEs) either systemically, vaginal CEE, or vaginal placebo cream for 4 wk. Low-dose local CEE treatment resulted in increased vaginal epithelial thickness and significant vaginal growth without uterine hyperplasia. Furthermore, vaginal wall distensibility increased without compromise of maximal force at failure. Systemic estradiol resulted in modest increases in collagen type I with no change in collagen type III mRNA. Low-dose vaginal treatment, however, resulted in dramatic increases in both collagen subtypes whereas moderate and high dose local therapies were less effective. Consistent with the mRNA results, low-dose vaginal estrogen resulted in increased total and cross-linked collagen content. The inverse relationship between vaginal dose and collagen expression may be explained in part by progressive downregulation of estrogen receptor-alpha mRNA with increasing estrogen dose. We conclude that, in this menopausal rat model, local estrogen treatment increased total and cross-linked collagen content and markedly stimulated collagen mRNA expression in an inverse dose-effect relationship. High-dose vaginal estrogen resulted in downregulation of estrogen receptor-alpha and loss of estrogen-induced increases in vaginal collagen. These results may have important clinical implications regarding the use of local vaginal estrogen therapy and its role as an adjunctive treatment in women with loss of vaginal support. PMID:25537371

Directed shift of vaginal microbiota induced by vaginal application of sucrose gel in rhesus macaques.

PubMed

Hu, Kai-tao; Zheng, Jin-xin; Yu, Zhi-jian; Chen, Zhong; Cheng, Hang; Pan, Wei-guang; Yang, Wei-zhi; Wang, Hong-yan; Deng, Qi-wen; Zeng, Zhong-ming

2015-04-01

Sucrose gel was used to treat bacterial vaginosis in a phase III clinical trial. However, the changes of vaginal flora after treatment were only examined by Nugent score in that clinical trial, While the vaginal microbiota of rhesus macaques is characterized by anaerobic, Gram-negative bacteria, few lactobacilli, and pH levels above 4.6, similar to the microbiota of patients with bacterial vaginosis. This study is aimed to investigate the change of the vaginal microbiota of rehsus macaques after topical use of sucrose gel to reveal more precisely the bacterial population shift after the topical application of sucrose gel. Sixteen rhesus macaques were treated with 0.5 g sucrose gel vaginally and three with 0.5 g of placebo gel. Vaginal swabs were collected daily following treatment. Vaginal pH levels and Nugent scores were recorded. The composition of the vaginal micotbiota was tested by V3∼V4 16S rDNA metagenomic sequencing. Dynamic changes in the Lactobacillus genus were analyzed by qPCR. The vaginal microbiota of rhesus macaques are dominated by anaerobic Gram-negative bacteria, with few lactobacilli and high pH levels above 4.6. After five days' treatment with topical sucrose gel, the component percentage of Lactobacillus in vaginal microbiota increased from 1.31% to 81.59%, while the component percentage of Porphyromonas decreased from 18.60% to 0.43%, Sneathia decreased from 15.09% to 0.89%, Mobiluncus decreased from 8.23% to 0.12%, etc.. The average vaginal pH values of 16 rhesus macaques of the sucrose gel group decreased from 5.4 to 3.89. There were no significant changes in microbiota and vaginal pH observed in the placebo group. Rhesus macaques can be used as animal models of bacterial vaginosis to develop drugs and test treatment efficacy. Furthermore, the topical application of sucrose gel induced the shifting of vaginal flora of rhesus macaques from a BV kind of flora to a lactobacilli-dominating flora. Copyright © 2015 The Authors. Published by

Fast track vaginal surgery.

PubMed

Ottesen, Marianne; Sørensen, Mette; Rasmussen, Yvonne; Smidt-Jensen, Steen; Kehlet, Henrik; Ottesen, Bent

2002-02-01

Our aim was to describe the need for postoperative hospitalization after vaginal surgery for utero-vaginal prolapse with well-defined charts for postoperative care. A prospective, descriptive study. Consecutive women admitted for first-time vaginal surgery for utero-vaginal prolapse at a public university hospital in Copenhagen, Denmark, underwent surgery and postoperative care in a fast track setting from September 15, 1999 to June 15 2000. A multimodal rehabilitation model with emphasis on information, standardized general anesthesia, reduced surgical distress, optimized pain-relief, early oral nutrition and ambulation, minimal use of indwelling catheter and vaginal packing. Postoperative hospital stay, complications, re-admission, success rate, patients' satisfaction and acceptability. Forty-one women with a median age of 69 years (range, 44-88 years) were included. All underwent anterior and/or posterior vaginal repair. Nineteen (46.3%) underwent vaginal hysterectomy, and eight (19.5%) underwent the Manchester procedure. Postoperative hospital stay was median 24 hr. Only three (7.3%) were discharged later than 48 hr. No re-admissions occurred. The most frequent complications were urinary retention exceeding 450 ml, and urinary tract infection (12.2%, and 9.8%, respectively). Short-term success rate was 97.6%. Patients' satisfaction rates were 85.4-95.1%. The median score of acceptability was 10 on a 0-10 points scale. The need for postoperative hospitalization was median 24 hr after vaginal surgery in a fast track setting, independently of the complexity of the procedure performed. Short-term success rate, satisfaction rates, and acceptability were all excellent. Follow up has been established to evaluate long-term success rates and recurrence.

Semaphorin 4D induces vaginal epithelial cell apoptosis to control mouse postnatal vaginal tissue remodeling.

PubMed

Ito, Takuji; Bai, Tao; Tanaka, Tetsuji; Yoshida, Kenji; Ueyama, Takashi; Miyajima, Masayasu; Negishi, Takayuki; Kawasaki, Takahiko; Takamatsu, Hyota; Kikutani, Hitoshi; Kumanogoh, Atsushi; Yukawa, Kazunori

2015-02-01

The opening of the mouse vaginal cavity to the skin is a postnatal tissue remodeling process that occurs at approximately five weeks of age for the completion of female genital tract maturation at puberty. The tissue remodeling process is primarily composed of a hormonally triggered apoptotic process predominantly occurring in the epithelium of the distal section of the vaginal cavity. However, the detailed mechanism underlying the apoptotic induction remains to be elucidated. In the present study, it was observed that the majority of BALB/c mice lacking the class 4 semaphorin, semaphorin 4D (Sema4D), developed imperforate vagina and hydrometrocolpos resulting in a perpetually unopened vaginal cavity regardless of a normal estrogen level comparable with that in wild‑type (WT) mice. Administration of β‑estradiol to infant Sema4D‑deficient (Sema4D‑/‑) mice did not induce precocious vaginal opening, which was observed in WT mice subjected to the same β‑estradiol administration, excluding the possibility that the closed vaginal phenotype was due to insufficient estrogen secretion at the time of vaginal opening. In order to assess the role of Sema4D in the postnatal vaginal tissue remodeling process, the expression of Sema4D and its receptor, plexin‑B1, was examined as well as the level of apoptosis in the vaginal epithelia of five‑week‑old WT and Sema4D‑/‑ mice. Immunohistochemical analyses confirmed the localization of Sema4D and plexin‑B1 in the mouse vaginal epithelia. Terminal deoxynucleotidyl transferase dUTP nick end labeling assay and immunohistochemistry detecting activated caspase‑3 revealed significantly fewer apoptotic cells in situ in the vaginal mucosa of five‑week‑old Sema4D‑/‑ mice compared with WT mice. The addition of recombinant Sema4D to Sema4D‑/‑ vaginal epithelial cells in culture significantly enhanced apoptosis of the vaginal epithelial cells, demonstrating the apoptosis‑inducing activity of Sema4D. The

Semaphorin 4D induces vaginal epithelial cell apoptosis to control mouse postnatal vaginal tissue remodeling

PubMed Central

ITO, TAKUJI; BAI, TAO; TANAKA, TETSUJI; YOSHIDA, KENJI; UEYAMA, TAKASHI; MIYAJIMA, MASAYASU; NEGISHI, TAKAYUKI; KAWASAKI, TAKAHIKO; TAKAMATSU, HYOTA; KIKUTANI, HITOSHI; KUMANOGOH, ATSUSHI; YUKAWA, KAZUNORI

2015-01-01

The opening of the mouse vaginal cavity to the skin is a postnatal tissue remodeling process that occurs at approximately five weeks of age for the completion of female genital tract maturation at puberty. The tissue remodeling process is primarily composed of a hormonally triggered apoptotic process predominantly occurring in the epithelium of the distal section of the vaginal cavity. However, the detailed mechanism underlying the apoptotic induction remains to be elucidated. In the present study, it was observed that the majority of BALB/c mice lacking the class 4 semaphorin, semaphorin 4D (Sema4D), developed imperforate vagina and hydrometrocolpos resulting in a perpetually unopened vaginal cavity regardless of a normal estrogen level comparable with that in wild-type (WT) mice. Administration of β-estradiol to infant Sema4D-deficient (Sema4D−/−) mice did not induce precocious vaginal opening, which was observed in WT mice subjected to the same β-estradiol administration, excluding the possibility that the closed vaginal phenotype was due to insufficient estrogen secretion at the time of vaginal opening. In order to assess the role of Sema4D in the postnatal vaginal tissue remodeling process, the expression of Sema4D and its receptor, plexin-B1, was examined as well as the level of apoptosis in the vaginal epithelia of five-week-old WT and Sema4D−/− mice. Immunohistochemical analyses confirmed the localization of Sema4D and plexin-B1 in the mouse vaginal epithelia. Terminal deoxynucleotidyl transferase dUTP nick end labeling assay and immunohistochemistry detecting activated caspase-3 revealed significantly fewer apoptotic cells in situ in the vaginal mucosa of five-week-old Sema4D−/− mice compared with WT mice. The addition of recombinant Sema4D to Sema4D−/− vaginal epithelial cells in culture significantly enhanced apoptosis of the vaginal epithelial cells, demonstrating the apoptosis-inducing activity of Sema4D. The experimental reduction of

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

PubMed

O'Connor, Emily; Töpf, Ana; Müller, Juliane S; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H; Lochmüller, Hanns

2016-08-01

Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation. Missense biallelic mutations in the MYO9A gene, encoding an unconventional myosin, were identified in two unrelated families. Depletion of MYO9A in NSC-34 cells revealed a direct effect of MYO9A on neuronal branching and axon guidance. Morpholino-mediated knockdown of the two MYO9A orthologues in zebrafish, myo9aa/ab, demonstrated a requirement for MYO9A in the formation of the neuromuscular junction during development. The morphants displayed shortened and abnormally branched motor axons, lack of movement within the chorion and abnormal swimming in response to tactile stimulation. We therefore conclude that MYO9A deficiency may affect the presynaptic motor axon, manifesting in congenital myasthenic syndrome. These results highlight the involvement of unconventional myosins in motor axon functionality, as well as the need to look outside traditional neuromuscular junction-specific proteins for further congenital myasthenic syndrome candidate genes. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.

A prospective study of genital infections in a family-planning clinic. 1. Microbiological findings and their association with vaginal symptoms.

PubMed Central

Riordan, T.; Macaulay, M. E.; James, J. M.; Leventhall, P. A.; Morris, E. M.; Neal, B. R.; Rowland, J.; Evans, B. M.

1990-01-01

A prospective study of genital infection was conducted in four inner-city family-planning clinics. Fifteen per cent of routine attenders had symptoms and signs of vaginal infection and many more women attended primarily because of symptoms. Among the women with both signs and symptoms, 70% had positive laboratory findings, Trichomonas vaginalis, Candida albicans and bacterial vaginosis being equally prevalent. Measurement of vaginal pH in the clinic was the single most useful clinical finding for directing empirical therapy. Among patients with a discharge confirmed on examination and an abnormally high pH, 72% had either T. vaginalis or bacterial vaginosis. Neisseria gonorrhoeae was isolated from 4% of women with, and 1% of those without, symptoms. We believe that it is worthwhile to investigate patients presenting to family-planning clinics with vaginal symptoms. No single specimen was found ideal for all pathogens, a cervical swab is better for gonococci and also for T. vaginalis but a vaginal swab is needed for candida and bacterial vaginosis. PMID:2307184

Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis: case report and literature review.

PubMed

DaCosta, V; Christie, L; Wynter, S; Harriott, J; Frederick, J

2009-09-01

We present a case of a patient with Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis. This group of congenital malformations is often asymptomatic until puberty, when it presents as cyclic dysmenorrhoea, leucorrhoea or a pelvic mass. Magnetic resonance imaging is becoming the preferred modality for delineation of uterine malformations. When congenital abnormalities of the reproductive tract are encountered, a search should also be made for renal anomalies. Patients with Uterus bicornis bicollis and unilateral imperforate vagina are often seen with pain severe enough to mimic an acute abdomen. It is important to keep this unusual congenital malformation in mind in the differential diagnosis of vaginal discharge, pelvic mass and/or abdominopelvic pain in young women so as to avoid inappropriate surgical procedures.

Bacterial vaginosis, vaginal flora patterns and vaginal hygiene practices in patients presenting with vaginal discharge syndrome in The Gambia, West Africa

PubMed Central

Demba, Edward; Morison, Linda; van der Loeff, Maarten Schim; Awasana, Akum A; Gooding, Euphemia; Bailey, Robin; Mayaud, Philippe; West, Beryl

2005-01-01

Background Bacterial vaginosis (BV) – a syndrome characterised by a shift in vaginal flora – appears to be particularly common in sub-Saharan Africa, but little is known of the pattern of vaginal flora associated with BV in Africa. We conducted a study aimed at determining the prevalence of BV and patterns of BV-associated vaginal micro-flora among women with vaginal discharge syndrome (VDS) in The Gambia, West Africa. Methods We enrolled 227 women with VDS from a large genito-urinary medicine clinic in Fajara, The Gambia. BV was diagnosed by the Nugent's score and Amsel's clinical criteria. Vaginal swabs were collected for T vaginalis and vaginal flora microscopy, and for Lactobacillus spp, aerobic organisms, Candida spp and BV-associated bacteria (Gardnerella vaginalis, anaerobic bacteria, and Mycoplasma spp) cultures; and cervical swabs were collected for N gonorrhoeae culture and C trachomatis PCR. Sera were tested for HIV-1 and HIV-2 antibodies. Sexual health history including details on sexual hygiene were obtained by standardised questionnaire. Results BV prevalence was 47.6% by Nugent's score and 30.8% by Amsel's clinical criteria. Lactobacillus spp were isolated in 37.8% of women, and 70% of the isolates were hydrogen-peroxide (H202)-producing strains. Prevalence of BV-associated bacteria were: G vaginalis 44.4%; Bacteroides 16.7%; Prevotella 15.2%; Peptostretococcus 1.5%; Mobiluncus 0%; other anaerobes 3.1%; and Mycoplasma hominis 21.4%. BV was positively associated with isolation of G vaginalis (odds-ratio [OR] 19.42, 95%CI 7.91 – 47.6) and anaerobes (P = 0.001 [OR] could not be calculated), but not with M hominis. BV was negatively associated with presence of Lactobacillus (OR 0.07, 95%CI 0.03 – 0.15), and H2O2-producing lactobacilli (OR 0.12, 95% CI 0.05 – 0.28). Presence of H2O2-producing lactobacilli was associated with significantly lower prevalence of G vaginalis, anaerobes and C trachomatis. HIV prevalence was 12.8%. Overall, there was

Heterogeneity of Vaginal Microbial Communities within Individuals▿ #

PubMed Central

Kim, Tae Kyung; Thomas, Susan M.; Ho, Mengfei; Sharma, Shobha; Reich, Claudia I.; Frank, Jeremy A.; Yeater, Kathleen M.; Biggs, Diana R.; Nakamura, Noriko; Stumpf, Rebecca; Leigh, Steven R.; Tapping, Richard I.; Blanke, Steven R.; Slauch, James M.; Gaskins, H. Rex; Weisbaum, Jon S.; Olsen, Gary J.; Hoyer, Lois L.; Wilson, Brenda A.

2009-01-01

Recent culture-independent studies have revealed that a healthy vaginal ecosystem harbors a surprisingly complex assemblage of microorganisms. However, the spatial distribution and composition of vaginal microbial populations have not been investigated using molecular methods. Here, we evaluated site-specific microbial composition within the vaginal ecosystem and examined the influence of sampling technique in detection of the vaginal microbiota. 16S rRNA gene clone libraries were prepared from samples obtained from different locations (cervix, fornix, outer vaginal canal) and by different methods (swabbing, scraping, lavaging) from the vaginal tracts of eight clinically healthy, asymptomatic women. The data reveal that the vaginal microbiota is not homogenous throughout the vaginal tract but differs significantly within an individual with regard to anatomical site and sampling method used. Thus, this study illuminates the complex structure of the vaginal ecosystem and calls for the consideration of microenvironments when sampling vaginal microbiota as a clinical predictor of vaginal health. PMID:19158255

Epidemiology of congenital heart disease in Brazil

PubMed Central

Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

2015-01-01

Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

[Clinical epidemiological retro prospective studies on the incidence and prevalence of cardiac congenital abnormalities in a group of 1570 children, born in Iaşi between 2000-2009].

PubMed

Chiosac, Alina Andreea Andreescu; Gorduza, E V; Stamatin, Maria; Novac, Otilia; Ivan, A

2010-01-01

The study has been conducted on a period of ten years and it included 1570 children with congenital abnormalities (CA), of which 371 (24%) were cardiac abnormalities, 312 (20%) were skeletal abnormalities, 55 (3%) were Down Syndrome and 832 (53%) were other pathologies. 48% of the 371 children that were diagnosed with cardiac CA were males, while 52% were females; 52% of the children were from the city, while 48% were from the country-side; 42% of the children have been born prematurely, while 58% of them have been born at normal term. 38% of the children had an APGAR score lower than 7 and 62% of them had an APGAR score higher than 7. Of the total number of births, 72% were caesarian births and 28% were natural births. The different types of Cardiac CA that have been encountered in the study were atrioventricular canal (56%), transposition of the great vessels (18%), common arterial trunk (10%), atrial septal defect (8%), ventricular septal defect (5%) and tetralogy of Fallot (3%). 66% of the total number of deaths were represented by those with cardiac pathology, 21% were caused by hydrocephalus, 7% were caused by diaphragmatic hernia, 4% had renal CA, while 2% were caused by other pathologies.

Effects of a One Year Reusable Contraceptive Vaginal Ring on Vaginal Microflora and the Risk of Vaginal Infection: An Open-Label Prospective Evaluation.

PubMed

Huang, Yongmei; Merkatz, Ruth B; Hillier, Sharon L; Roberts, Kevin; Blithe, Diana L; Sitruk-Ware, Régine; Creinin, Mitchell D

2015-01-01

A contraceptive vaginal ring (CVR) containing Nestorone® (NES) and ethinyl estradiol (EE) that is reusable for 1- year (13 cycles) is under development. This study assessed effects of this investigational CVR on the incidence of vaginal infections and change in vaginal microflora. There were 120 women enrolled into a NES/EE CVR Phase III trial and a microbiology sub-study for up to 1- year of cyclic product use. Gynecological examinations were conducted at baseline, the first week of cycle 6 and last week of cycle 13 (or during early discontinuation visits). Vaginal swabs were obtained for wet mount microscopy, Gram stain and culture. The CVR was removed from the vagina at the last study visit and cultured. Semi-quantitative cultures for Lactobacillus, Gardnerella vaginalis, Enterococcus faecalis, Staphylococcus aureus, Escherichia coli, anaerobic gram negative rods (GNRs), Candida albicans and other yeasts were performed on vaginal and CVR samples. Vaginal infections were documented throughout the study. Over 1- year of use, 3.3% of subjects were clinically diagnosed with bacterial vaginosis, 15.0% with vulvovaginal candidiasis, and 0.8% with trichomoniasis. The detection rate of these three infections did not change significantly from baseline to either Cycle 6 or 13. Nugent scores remained stable. H2O2-positive Lactobacillus dominated vaginal flora with a non-significant prevalence increase from 76.7% at baseline to 82.7% at cycle 6 and 90.2% at cycle 13, and a median concentration of 107 colony forming units (cfu) per gram. Although anaerobic GNRs prevalence increased significantly, the median concentration decreased slightly (104 to 103cfu per gram). There were no significant changes in frequency or concentrations of other pathogens. High levels of agreement between vaginal and ring surface microbiota were observed. Sustained use of the NES/EE CVR did not increase the risk of vaginal infection and was not disruptive to the vaginal ecosystem. Clinical

Effects of a One Year Reusable Contraceptive Vaginal Ring on Vaginal Microflora and the Risk of Vaginal Infection: An Open-Label Prospective Evaluation

PubMed Central

Huang, Yongmei; Merkatz, Ruth B.; Hillier, Sharon L.; Roberts, Kevin; Blithe, Diana L.; Sitruk-Ware, Régine; Creinin, Mitchell D.

2015-01-01

Background A contraceptive vaginal ring (CVR) containing Nestorone® (NES) and ethinyl estradiol (EE) that is reusable for 1- year (13 cycles) is under development. This study assessed effects of this investigational CVR on the incidence of vaginal infections and change in vaginal microflora. Methods There were 120 women enrolled into a NES/EE CVR Phase III trial and a microbiology sub-study for up to 1- year of cyclic product use. Gynecological examinations were conducted at baseline, the first week of cycle 6 and last week of cycle 13 (or during early discontinuation visits). Vaginal swabs were obtained for wet mount microscopy, Gram stain and culture. The CVR was removed from the vagina at the last study visit and cultured. Semi-quantitative cultures for Lactobacillus, Gardnerella vaginalis, Enterococcus faecalis, Staphylococcus aureus, Escherichia coli, anaerobic gram negative rods (GNRs), Candida albicans and other yeasts were performed on vaginal and CVR samples. Vaginal infections were documented throughout the study. Results Over 1- year of use, 3.3% of subjects were clinically diagnosed with bacterial vaginosis, 15.0% with vulvovaginal candidiasis, and 0.8% with trichomoniasis. The detection rate of these three infections did not change significantly from baseline to either Cycle 6 or 13. Nugent scores remained stable. H2O2-positive Lactobacillus dominated vaginal flora with a non-significant prevalence increase from 76.7% at baseline to 82.7% at cycle 6 and 90.2% at cycle 13, and a median concentration of 107 colony forming units (cfu) per gram. Although anaerobic GNRs prevalence increased significantly, the median concentration decreased slightly (104 to 103cfu per gram). There were no significant changes in frequency or concentrations of other pathogens. High levels of agreement between vaginal and ring surface microbiota were observed. Conclusion Sustained use of the NES/EE CVR did not increase the risk of vaginal infection and was not disruptive to

Surgical removal of a large vaginal calculus formed after a tension-free vaginal tape procedure.

PubMed

Zilberlicht, Ariel; Feiner, Benjamin; Haya, Nir; Auslender, Ron; Abramov, Yoram

2016-11-01

Vaginal calculus is a rare disorder which has been reported in association with urethral diverticulum, urogenital sinus anomaly, bladder exstrophy and the tension-free vaginal tape (TVT) procedure. We report a 42-year-old woman who presented with persistent, intractable urinary tract infection (UTI) following a TVT procedure. Cystoscopy demonstrated an eroded tape with the formation of a bladder calculus, and the patient underwent laser cystolithotripsy and cystoscopic resection of the tape. Following this procedure, her UTI completely resolved and she remained asymptomatic for several years. Seven years later she presented with a solid vaginal mass. Pelvic examination followed by transvaginal ultrasonography and magnetic resonance imaging demonstrated a large vaginal calculus located at the lower third of the anterior vaginal wall adjacent to the bladder neck. This video presents the transvaginal excision and removal of the vaginal calculus.

Vaginal Calculus in a Woman With Mixed Urinary Incontinence and Vaginal Mesh Exposure.

PubMed

Winkelman, William D; Rabban, Joseph T; Korn, Abner P

2016-01-01

Vaginal calculi are extremely rare and are most commonly encountered in the setting of an urethrovaginal or vesicovaginal fistula. We present a case of a 72-year-old woman with mixed urinary incontinence and vaginal mesh exposure incidentally found to have a large vaginal calculus. We removed the calculus surgically and analyzed the components. Results demonstrated the presence of ammonium-magnesium phosphate hexahydrate and carbonate apatite.

Cesarean section scar as a cause of abnormal vaginal bleeding: diagnosis by sonohysterography.

PubMed

Thurmond, A S; Harvey, W J; Smith, S A

1999-01-01

A previously undescribed cause of abnormal uterine bleeding is presented. Nine of 310 women evaluated by sonohysterography for abnormal bleeding demonstrated an 8 to 17 mm gap in the anterior lower uterine segment myometrium at the site of prior cesarean deliveries. All women were premenopausal and had a history of 2 to 12 days of postmenstrual spotting. Presumably a lack of coordinated muscular contractions occurs around the cesarean scar, allowing the defect to collect menstrual debris. Subsequently, the debris leaches out through the cervix for several days after the majority of menstrual flow has ceased.

Providers' Experiences with Vaginal Dilator Training for Patients with Vaginal Agenesis.

PubMed

Patel, Vrunda; Hakim, Julie; Gomez-Lobo, Veronica; Amies Oelschlager, Anne-Marie

2018-02-01

To examine providers' experiences with vaginal dilator training for patients with vaginal agenesis. Anonymous electronic survey. Members of the North American Society for Pediatric and Adolescent Gynecology. How providers learn about vaginal dilator training, common techniques, and methods used for patient training, assessment of patient readiness, common patient complaints, issues leading to early discontinuation. There were a total of 55 completed survey responses of which 31 respondents (56%) had been in practice for more than 10 years. Forty-nine were gynecologists (89%), 20 had completed a fellowship in pediatric and adolescent gynecology (36%), and 6 were reproductive endocrinologists (11%). Thirty-one respondents had first learned about vaginal dilator training through lectures (56%) whereas only 9 through mentorship and fellowship (16%). According to respondents, the most common issue leading to early discontinuation was lack of patient motivation and readiness (n = 42; 76%). The most common complication was pain or discomfort (n = 45; 82%). More than half of respondents determined dilator therapy was successful when patients reported comfortable sexual intercourse (n = 30; 55%) and 65% (n = 35) did not delineate any restrictions to initiation of sexual intercourse. Most respondents (87%) requested further vaginal dilator training at either a clinical meeting (n = 26; 47%) or with a training video (n = 22; 40%). Our study in an experienced cohort of pediatric gynecology providers highlights the need for further research and training on vaginal dilation education. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

PubMed

Cohen, J; Schanen, N C

2000-01-01