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Sample records for abnormalities congenital vaginal

  1. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  2. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  3. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence.

  4. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. PMID:25590398

  5. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    PubMed

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  6. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    PubMed Central

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  7. Bacterial vaginosis, aerobic vaginitis, vaginal inflammation and major Pap smear abnormalities.

    PubMed

    Vieira-Baptista, P; Lima-Silva, J; Pinto, C; Saldanha, C; Beires, J; Martinez-de-Oliveira, J; Donders, G

    2016-04-01

    The purpose of this investigation was to evaluate the impact of the vaginal milieu on the presence of abnormal Pap smears and a positive human papilloma virus (HPV) test. A cross-sectional study was conducted between June 2014 and May 2015, evaluating the vaginal discharge by fresh wet mount microscopy and comparing these data with Pap smear findings. Wet mount slides were scored for bacterial vaginosis (BV), aerobic vaginitis (AV), presence of Candida and Trichomonas vaginalis. Cytologic evaluation was done on all Pap smears according to the Bethesda criteria. The cobas© HPV Test (Roche) was performed for HPV detection. A total of 622 cases were evaluated. The mean age of the patients was 41.6 ± 10.65 years (range 21-75). Eighty-three women (13.3 %) had a cytology result worse than low-grade squamous intraepithelial lesion (LSIL). When comparing this group with the one with normal or minor [atypical squamous cells of undetermined significance (ASC-US) or LSIL] Pap smear abnormalities, there were no differences in the presence of Candida (32.5 % vs. 33.2 %, p = 1.0), absence of lactobacilli (38.6 % vs. 32.5 %, p = 0.32) or BV (20.5 % vs. 13.2 %, p = 0.09). On the other hand, moderate or severe inflammation (msI) (41.0 % vs. 28.8 %, p = 0,04), moderate or severe AV (msAV) (16.9 % vs. 7.2 %, p = 0.009) and msAV/BV (37.3 % vs. 20.0 %, p = 0.001) were more common in women with such major cervical abnormalities. No significant association was found between deviations of the vaginal milieu and high-risk HPV infection. The presence of msI or msAV, but not BV, is independently associated with an increased risk of major cervical cytological abnormalities, but not with HPV infection. PMID:26810061

  8. Congenital abnormality of the vagina complicated by haemato-pyocolpos in a 1-year labrador retriever.

    PubMed

    Alonge, S; Romussi, S; Grieco, V; Luvoni, G C

    2015-06-01

    A 1-year-old female Labrador retriever was referred with a few days history of haematic-like vulvar discharge. Physical examination, vaginal inspection and palpation did not reveal any remarkable finding. Transabdominal ultrasound showed echogenic fluid accumulation in the vagina suggesting haemato-pyocolpos. An exploratory laparotomy was performed: a well-delimited ectasic vagina was identified. Ovariohysterectomy and partial vaginectomy and vaginoplasty were performed to spay the bitch and to remove the ectasic vagina. Post-operative recovery and 12-month follow-up were uneventful. Clinical, morphological and histological findings were consistent with a congenital abnormality of the muscular layer of the vagina complicated by haemato-pyocolpos. The disorganization of the vaginal tunica muscularis may have acted as locus minoris resistentiae in the vaginal wall. The organ was dilated and atonic due to the gradual accumulation of physiological fluids complicated by an overgrowth of genital bacteria. This congenital disorder has to be taken into account as differential diagnosis of haemato-pyocolpos with vaginal discharge in young bitches.

  9. Incidence of legal abortions and congenital abnormalities in Hungary.

    PubMed

    Czeizel, A E

    1991-01-01

    The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary.

  10. Isochromosome 20p associated with multiple congenital abnormalities.

    PubMed

    Fryer, Alan E; Ashworth, Michael; Hawe, Jed; Pilling, David; Pauling, Margaret; Maye, Una

    2005-01-01

    A second case of tetrasomy 20p due to an additional isochromosome 20p is reported. This resulted in a spontaneous intrauterine death with multiple congenital abnormalities. In keeping with the previous report, the foetus had poor ossification resulting in multiple long bone fractures.

  11. Congenital and Neurological Abnormalities in Infants with Phenylketonuria

    ERIC Educational Resources Information Center

    Johnson, Charles F.; And Others

    1978-01-01

    Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…

  12. Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

    PubMed

    Niimi, Kimie; Oguchi, Ayaka; Nishio, Kenji; Okano, Yasushi; Takahashi, Eiki

    2015-03-01

    The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed.

  13. [Ultrasonic diagnosis of congenital uterine abnormalities].

    PubMed

    Funk, A; Fendel, H

    1988-01-01

    1-2% of women has abnormal uterine development due to nonunification of the Müllerian ducts in the embryonal period. At the RWTH Aachen, in the department of gynaecology and obstetrics, between January and June 1987, we had searched systematically for maldevelopment of the uterus in 2299 echosonografies. In 13 cases we found maldevelopment of internal genital; 5 of these cases were diagnosed by an echosonografic routine-examination. The echografic criteria of the different grades of uterine malformations have been determined, systematized and discussed in relation to the symptoms. The most frequent malformations as uterus subseptus, uterus septus, uterus bicornis and uterus duplex are subject of a detailed discussion. This work demonstrates that echosonografic is a very efficient instrument to diagnose uterine malformations and gives us a very exact anatomic interpretation of malformations.

  14. Congenital pouch colon in girls: Genitourinary abnormalities and their management

    PubMed Central

    Chadha, Rajiv; Khan, Niyaz Ahmed; Shah, Shalu; Pant, Nitin; Gupta, Amit; Choudhury, Subhasis Roy; Debnath, Pinaki Ranjan; Puri, Archana

    2015-01-01

    Aims: To discuss the assessment and management of genitourinary (GU) tract abnormalities in 21 girls with Types I-III congenital pouch colon (CPC), studied over a period of 10 years. Materials and Methods: Assessment included clinical and radiological assessment, examination under anesthesia (EUA), endoscopy of the lower GU tract, and evaluation of the surgical findings, operative procedures for the GU anomalies, and the results of management. Results: Initial examination of the external genitalia showed a “clover-leaf” appearance (n = 6) and a single perineal opening (n = 6). In 9 patients, the openings of the urethra and double vagina were seen, of which a vestibular fistula was seen in 5 and an anterior perineal fistula in 1. Seventeen patients (81%) had urinary incontinence (UI) - partial in 10, and complete in 7. Renal function tests, X-ray sacrum, and abdominal US were normal in all patients. Micturating cystourethrogram (n = 9) showed a wide, bladder neck incompetence (BNI) with reduced bladder capacity in seven patients. EUA and endoscopy revealed a septate vagina in all patients and the urethral opening at a “high” position (n = 14) or at a relatively normal or “low” position (n = 7). In 8 patients, the intervaginal septum was thick and fleshy. Endoscopy showed a short, wide urethra, an open incompetent bladder neck, poorly developed trigone, and reduced bladder capacity in the patients with UI. The fistula from the colonic pouch opened in the proximal urethra (n = 4), high in the vestibule (n = 3), low in the vestibule (n = 8), perineum just posterior to the vestibule (n = 1), and undetermined (n = 5). Vaginoscopy (n = 8) showed normal cervices in all and cervical mucus in 4 patients. The subtypes of CPC were Type I CPC (n = 4), Type II CPC (n = 16), and Type III CPC (n = 1). All 21 patients had uterus didelphys. In four patients with UI, during tubular colorraphy, a segment of the colonic pouch was preserved for later bladder augmentation if

  15. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease. PMID:25424472

  16. Abnormal Cerebral Microstructure in Premature Neonates with Congenital Heart Disease

    PubMed Central

    Paquette, Lisa B.; Wisnowski, Jessica L.; Ceschin, Rafael; Pruetz, Jay D.; Detterich, Jon A.; Del Castillo, Sylvia; Nagasunder, Arabhi C.; Kim, Richard; Painter, Michael J.; Gilles, Floyd H.; Nelson, Marvin D.; Williams, Roberta G.; Blüml, Stefan; Panigrahy, Ashok

    2013-01-01

    Background and Purpose Abnormal cerebral microstructure has been documented in term neonates with congenital heart disease (CHD) portending risk for injury and poor neurodevelopmental outcome. Our hypothesis was that preterm neonates with CHD would demonstrate diffuse cerebral microstructural abnormalities when compared to critically ill neonates without CHD. A secondary aim was to identify any association between microstructural abnormalities, white matter injury (e.g., punctate white matter lesions, pWMLs) and other clinical variables, including heart lesion. Material and Methods Using Tract-Based-Spatial-Statistics (TBSS), an unbiased, voxel-wise method for analyzing diffusion tensor imaging data, we compared 21 preterm neonates with CHD to two cohorts of neonates without CHD: 28 term and 27 preterm neonates, identified from the same neonatal intensive care unit. Results Compared to term neonates without CHD, preterm neonates with CHD had microstructural abnormalities in widespread regions of the central white matter. However, 42% of the preterm CHD neonates had pWMLs. When neonates with pWMLs were excluded, microstructural abnormalities remained only in the splenium. Preterms with CHD had similar microstructure to preterms without CHD. Conclusion Diffuse microstructural abnormalities were observed in preterm neonates with CHD, strongly associated with pWMLs. Independently, regional vulnerability of the splenium, a structure associated with visual spatial function, was observed in all preterm CHD neonates. PMID:23703146

  17. Appropriately grown baby with multiple congenital abnormalities: a case report.

    PubMed

    Thakkar, Devangi; Aladangady, Narendra

    2008-01-01

    We present the case of a full-term baby girl (Baby A) born with multiple congenital abnormalities that were suggested by prenatal scans. The mother had declined further antenatal diagnostic testing. Postnatal chromosomal analyses revealed the karyotype of the baby to be trisomy 18. After detailed, compassionate discussions with the parents, it was decided to provide palliative care in the best interest of the baby, who died on day 15 of life. This case illustrates ethical difficulties in the care of neonates with congenital anomalies with poor prognoses, such as trisomy 18. Recommending palliative care and "do not resuscitate" orders to optimistic parents is extremely difficult and needs to be done in the most sensitive manner possible.

  18. Abnormal Pap Smear and Diagnosis of High-Grade Vaginal Intraepithelial Neoplasia

    PubMed Central

    Sopracordevole, Francesco; Mancioli, Francesca; Clemente, Nicolò; De Piero, Giovanni; Buttignol, Monica; Giorda, Giorgio; Ciavattini, Andrea

    2015-01-01

    Abstract The aim of this study was to analyze the correlation between the first diagnosis of high-grade Vaginal Intraepithelial Neoplasia (HG-VaIN: VaIN 2–VaIN 3) and the cytological abnormalities on the referral pap smear. All the women with histological diagnosis of HG-VaIN consecutively referred to the Gynecological Oncology Unit of the Aviano National Cancer Institute (Aviano, Italy) from January 1991 to April 2014 and with a pap smear performed in the 3 months before the diagnosis were considered, and an observational cohort study was performed. A total of 87 women with diagnosis of HG-VaIN were identified. Major cytological abnormalities (HSIL and ASC-H) on the referral pap smear were significantly more frequent than lesser abnormalities (ASC-US and LSIL) in postmenopausal women (64.9% vs 36.7%, P = 0.02) and in women with a previous diagnosis of HPV-related cervical preinvasive or invasive lesions (70.5% vs 39.5%, P = 0.01). Diagnosis of VaIN 3 was preceded by major cytological abnormalities in most of the cases (72.7% vs 27.3%, P < 0.001). The diagnosis of HG-VaIN can be preceded by different abnormalities on referral pap smear. Major abnormalities are usually reported in postmenopausal women and in women with previous cervical HPV-related disease. However, ASC-US or LSIL do not exclude HG-VaIN, especially VaIN2. An accurate examination of the whole vaginal walls (or vaginal vault) must be performed in all the women who underwent colposcopy for an abnormal pap smear, and a biopsy of all suspicious areas is mandatory. PMID:26496321

  19. Abnormal Pap Smear and Diagnosis of High-Grade Vaginal Intraepithelial Neoplasia: A Retrospective Cohort Study.

    PubMed

    Sopracordevole, Francesco; Mancioli, Francesca; Clemente, Nicolò; De Piero, Giovanni; Buttignol, Monica; Giorda, Giorgio; Ciavattini, Andrea

    2015-10-01

    The aim of this study was to analyze the correlation between the first diagnosis of high-grade Vaginal Intraepithelial Neoplasia (HG-VaIN: VaIN 2-VaIN 3) and the cytological abnormalities on the referral pap smear.All the women with histological diagnosis of HG-VaIN consecutively referred to the Gynecological Oncology Unit of the Aviano National Cancer Institute (Aviano, Italy) from January 1991 to April 2014 and with a pap smear performed in the 3 months before the diagnosis were considered, and an observational cohort study was performed.A total of 87 women with diagnosis of HG-VaIN were identified. Major cytological abnormalities (HSIL and ASC-H) on the referral pap smear were significantly more frequent than lesser abnormalities (ASC-US and LSIL) in postmenopausal women (64.9% vs 36.7%, P = 0.02) and in women with a previous diagnosis of HPV-related cervical preinvasive or invasive lesions (70.5% vs 39.5%, P = 0.01). Diagnosis of VaIN 3 was preceded by major cytological abnormalities in most of the cases (72.7% vs 27.3%, P < 0.001).The diagnosis of HG-VaIN can be preceded by different abnormalities on referral pap smear. Major abnormalities are usually reported in postmenopausal women and in women with previous cervical HPV-related disease. However, ASC-US or LSIL do not exclude HG-VaIN, especially VaIN2. An accurate examination of the whole vaginal walls (or vaginal vault) must be performed in all the women who underwent colposcopy for an abnormal pap smear, and a biopsy of all suspicious areas is mandatory. PMID:26496321

  20. 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.

  1. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications.

    PubMed

    Henriques, Vânia; Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  2. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    PubMed Central

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  3. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    PubMed Central

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

  4. Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

    PubMed

    Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

    2010-12-01

    The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies.

  5. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    PubMed

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

  6. Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities.

    PubMed

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

    2006-03-01

    The objective of the study was to investigate the possible association between nausea and vomiting in early pregnancy and congenital abnormalities. The prevalence of medically-recorded severe nausea and vomiting in early pregnancy in cases with congenital abnormalities and their available matched population controls without any defect was compared in the population-based large data set of the Hungarian Case-Control Surveillance System of congenital abnormalities, 1980-1996. Of 22,843 cases with as 25 different congenital abnormality groups, 1,713 (7.5%) cases had mothers with medically recorded and treated severe nausea and vomiting during pregnancy. Of 38,151 matched population controls, 3,777 (9.9%) had mothers with severe nausea and vomiting (adjusted prevalence odds ratio (POR) with 95% CI: 0.74, 0.68-0.79). Five congenital abnormality groups: cleft lip with or without cleft palate (0.50, 0.37-0.70), posterior cleft palate (0.53, 0.32-0.89), renal a/dysgenesis (0.23, 0.06-0.96), obstructive defects of urinary tract (0.32, 0.18-0.58), and cardiovascular malformations (0.68, 0.57-0.81) had mothers with a lower prevalence of severe nausea and vomiting in pregnancy (adjusted PORs with 95% CI included in parentheses). Of 25 congenital abnormality groups, 22 had POR lower than 1. Thus in this study the mothers of cases with congenital abnormalities were 26% less likely to have had severe nausea and vomiting in early pregnancy than the mothers of population controls without congenital abnormalities.

  7. Studies on congenital abnormalities and related risk factors.

    PubMed

    Khanum, S; Noor, K; Kawser, C A

    2004-07-01

    Congenital malformations were studied prospectively covering 11680 consecutive deliveries. The overall incidence of malformations was 2.3%. Musculoskeletal system was the most commonly involved system. The incidence of malformation was higher in still borns, premature, low birth weight babies and those with positive heredo-familial history. It was also higher in babies, born to mothers who were more than 35 years of age and gravida four and above. Consanguinity of marriage, drugs and hormone ingestion during pregnancy, antenatal complication like hydramnios, pre eclamtic toxemia, gestational diabetes was associated with high incidence of congenital malformations.

  8. Pulmonary imaging abnormalities in an adult case of congenital lobar emphysema.

    PubMed

    Pike, Damien; Mohan, Sindu; Ma, Weijing; Lewis, James F; Parraga, Grace

    2015-02-01

    Congenital lobar emphysema is mainly diagnosed in infants, although rare cases are reported in adults. A 20-yr-old female with acute dyspnea, chest pain and left upper lobe (LUL) chest x-ray hyperlucency underwent 3He magnetic resonance imaging (MRI) for ventilation and apparent diffusion coefficient (ADC) measurements, as well as CT for emphysema and airway wall measurements. Forced expiratory volume in 1s, residual volume, and airways-resistance were abnormal, but there was normal carbon-monoxide-diffusing-capacity. The LUL relative area of the density histogram <-950 HU and airway morphology were highly abnormal compared with the other lobes and coincident with highly abnormal MRI-derived acinar duct dimensions. CT also identified bronchial atresia and congenital lobar emphysema as the source of symptoms in this case where there was also functional imaging evidence of collateral ventilation from the fissure (and not the abnormally terminated airway) into the emphysematous LUL.

  9. [Principles of pathological diagnosis in children with congenital abnormalities].

    PubMed

    Ivanovskaia, T E; Kogoi, T F; Voloshchuk, I N

    1983-01-01

    The features of establishment of pathological diagnosis in children with congenital malformations (CM) are discussed. An analysis of 1058 autopsy records of the centralized department of pathology of the Children's Clinical Hospital No. 1, Moscow, was carried out. CM were found in 236 cases (22.3% of the total number of autopsies). In 117 cases (49.6% of all CM observations) CM was the main disease, in 82 (34.7%) observations CM were combined with other diseases. In the establishment of pathological diagnosis in cases of combined diseases, the epidemiological situation, the importance of one or another process for statistical generalizations should be taken into consideration. In our opinion, preference should be given to cases of intrauterine, highly contagious, and nosocomial infections. In 37 (15.7%) observations CM exerted no effect on the course of the disease and was classified as the background condition.

  10. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    PubMed

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

  11. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    PubMed

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further. PMID:21728077

  12. 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.

  13. SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

    PubMed

    Stark, Zornitza; Behrsin, Joanna; Burgess, Trent; Ritchie, Anna; Yeung, Alison; Tan, Tiong Y; Brown, Natasha J; Savarirayan, Ravi; Patel, Neil

    2015-10-01

    Chromosomal abnormalities are an important factor in the pathogenesis of congenital diaphragmatic hernia (CDH), a relatively common congenital defect associated with high morbidity and mortality. The adoption of array-based platforms for chromosome analysis has resulted in the identification of numerous copy number variants (CNVs) in infants with CDH, highlighting the potential pathogenic role of many novel genes. We identified a retrospective cohort of 28 infants treated for CDH at a single institution who had microarray testing to determine the proportion of microarray abnormalities and whether these were contributory to CDH pathogenesis. Eight patients (29%) had microarray abnormality. Seven (25%) were considered likely contributory to CDH pathogenesis, including two mosaic trisomy 9s, a 9q22.31q22.32 microduplication, two atypical 22q11.21 microdeletions, a 2q35q36.1 microdeletion, and a 15q11.2 microdeletion, offering insights into the genetic mechanisms underlying CDH development.

  14. Crying abnormalities in congenital hypothyroidism: preliminary spectrographic study.

    PubMed

    Boero, D L; Weber, G; Vigone, M C; Lenti, C

    2000-09-01

    The aim of this preliminary study was to evaluate the acoustic patterns of the cries of hypothyroid newborns at the time of diagnosis and after the beginning of therapy. Cries were recorded at the nursery of the San Raffaele Hospital, Milan, Italy from 12 full-term subjects (three boys and nine girls) affected by congenital hypothyroidism. Results show that untreated hypothyroid infants at first recording had fewer voiceless and partially voiced cries than normal controls. The percent distribution of this pattern did not change at the second recording after the onset of substitutive therapy. Also, untreated hypothyroid infants had many more cry units showing a vibrato contour than did controls, and this pattern did not change after the onset of treatment. Starting, maximum, minimum, and end frequencies measured on the fundamental were significantly lower in the hypothyroid sample. Four hypothyroid subjects recorded before therapy and within 4 weeks after therapy onset significantly augmented their fundamental frequency parameters; however, in 25% of the sample, sound parameters remained unaltered after 3 or more weeks of treatment. To our knowledge the present preliminary study is the first one performed on follow-up of hypothyroid newborns and indicates that both central and peripheral damage might influence the pattern of crying in untreated hypothyroid infants. PMID:11019791

  15. 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.

  16. 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. PMID:22193390

  17. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

    PubMed

    Engle, E C; Goumnerov, B C; McKeown, C A; Schatz, M; Johns, D R; Porter, J D; Beggs, A H

    1997-03-01

    Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system. PMID:9066352

  18. 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

  19. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract

    PubMed Central

    Ramanathan, Subramaniyan; Kumar, Devendra; Khanna, Maneesh; Al Heidous, Mahmoud; Sheikh, Adnan; Virmani, Vivek; Palaniappan, Yegu

    2016-01-01

    Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number (agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography (US) is typically the first imaging performed as it is easily available, non-invasive and radiation free used both antenatally and postnatally. Computed tomography (CT) and magnetic resonance imaging (MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. PMID:26981222

  20. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.

    PubMed

    Ramanathan, Subramaniyan; Kumar, Devendra; Khanna, Maneesh; Al Heidous, Mahmoud; Sheikh, Adnan; Virmani, Vivek; Palaniappan, Yegu

    2016-02-28

    Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number (agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography (US) is typically the first imaging performed as it is easily available, non-invasive and radiation free used both antenatally and postnatally. Computed tomography (CT) and magnetic resonance imaging (MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management. PMID:26981222

  1. 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 ...

  2. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part II: Acyanotic Congenital Heart Disease and Extracardiac Abnormalities.

    PubMed

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-06-01

    Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease.

  3. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part II: Acyanotic Congenital Heart Disease and Extracardiac Abnormalities

    PubMed Central

    Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-01-01

    Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease. PMID:27504381

  4. Congenital abnormalities and acute leukemia among children with Down syndrome: a Children's Oncology Group study.

    PubMed

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

    2008-10-01

    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 (OR(Combined), 0.74; 95% CI, 0.45-1.23; OR(ALL), 0.67; 95% CI, 0.38-1.20; OR(AML),1.03; 95% CI, 0.49-2.16) or their siblings (OR(Combined), 1.23; 95% CI, 0.71-2.13; OR(ALL), 1.12; 95% CI, 0.60-2.09; OR(AML), 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.

  5. Maternal Early Pregnancy Serum Metabolomics Profile and Abnormal Vaginal Bleeding as Predictors of Placental Abruption: A Prospective Study

    PubMed Central

    Gelaye, Bizu; Sumner, Susan J.; McRitchie, Susan; Carlson, James E.; Ananth, Cande V.; Enquobahrie, Daniel A.; Qiu, Chunfang; Sorensen, Tanya K.; Williams, Michelle A.

    2016-01-01

    Background & Objective Placental abruption, an ischemic placental disorder, complicates about 1 in 100 pregnancies, and is an important cause of maternal and perinatal morbidity and mortality worldwide. Metabolomics holds promise for improving the phenotyping, prediction and understanding of pathophysiologic mechanisms of complex clinical disorders including abruption. We sought to evaluate maternal early pregnancy pre-diagnostic serum metabolic profiles and abnormal vaginal bleeding as predictors of abruption later in pregnancy. Methods Maternal serum was collected in early pregnancy (mean 16 weeks, range 15 to 22 weeks) from 51 abruption cases and 51 controls. Quantitative targeted metabolic profiles of serum were acquired using electrospray ionization liquid chromatography-mass spectrometry (ESI-LC-MS/MS) and the Absolute IDQ® p180 kit. Maternal sociodemographic characteristics and reproductive history were abstracted from medical records. Stepwise logistic regression models were developed to evaluate the extent to which metabolites aid in the prediction of abruption. We evaluated the predictive performance of the set of selected metabolites using a receiver operating characteristics (ROC) curve analysis and area under the curve (AUC). Results Early pregnancy vaginal bleeding, dodecanoylcarnitine/dodecenoylcarnitine (C12 / C12:1), and phosphatidylcholine acyl-alkyl C 38:1 (PC ae C38:1) strongly predict abruption risk. The AUC for these metabolites alone was 0.68, for early pregnancy vaginal bleeding alone was 0.65, and combined the AUC improved to 0.75 with the addition of quantitative metabolite data (P = 0.003). Conclusion Metabolomic profiles of early pregnancy maternal serum samples in addition to the clinical symptom, vaginal bleeding, may serve as important markers for the prediction of abruption. Larger studies are necessary to corroborate and validate these findings in other cohorts. PMID:27300725

  6. 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.

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

    PubMed Central

    Smith, WG; Toye, JW; Reid, A; Smith, RW

    2005-01-01

    OBJECTIVE 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. METHODS 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. RESULTS 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). CONCLUSIONS 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. PMID:19675840

  8. Peptic ulcer disease with related drug treatment in pregnant women and congenital abnormalities in their offspring.

    PubMed

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

    2011-03-01

    Peptic ulcer disease (PUD) is a common disease which can also occur in pregnant women. However, the possible association of PUD and related drug treatments in pregnant women with the risk of structural birth defects (i.e. congenital abnormalities [CA]) in their offspring has not been estimated in controlled population-based epidemiological studies. Thus, the prevalence of PUD in pregnant women who later delivered babies (cases) with different CA and in pregnant women who delivered newborns without CA (controls) was compared in the Hungarian Case-Control Surveillance of Congenital Abnormalities. Controls were matched to cases. Of 22,843 cases with congenital abnormalities, 182 (0.80%) had mothers with reported/recorded PUD, while of 38,151 controls, 261 (0.68%) were born to mothers with reported/recorded PUD. However, PUD(?) based on maternal information and/or unspecified diagnostic criteria, and PUD(!) based on endoscopic diagnosis showed different variables of mothers and newborn infants. Thus, finally, 20 case mothers and 58 control mothers with PUD(!) and related drugs were evaluated in detail. There was no higher risk for total CA group in the offspring of mothers with PUD during pregnancy (adjusted OR with 95% CI: 0.6, 0.3-0.9). Specific CA groups in cases were also assessed versus controls, but specified CA had no higher risk in the offspring of pregnant women with PUD and related drug treatments. In conclusion, a higher rate of CA was not found in the offspring of mothers with PUD.

  9. Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13.

    PubMed

    Ocak, Z; Ozlu, T; Vural, M

    2013-01-01

    Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.

  10. Congenital Brain Abnormalities and Zika Virus: What the Radiologist Can Expect to See Prenatally and Postnatally.

    PubMed

    Soares de Oliveira-Szejnfeld, Patricia; Levine, Deborah; Melo, Adriana Suely de Oliveira; Amorim, Melania Maria Ramos; Batista, Alba Gean M; Chimelli, Leila; Tanuri, Amilcar; Aguiar, Renato Santana; Malinger, Gustavo; Ximenes, Renato; Robertson, Richard; Szejnfeld, Jacob; Tovar-Moll, Fernanda

    2016-10-01

    Purpose To document the imaging findings associated with congenital Zika virus infection as found in the Instituto de Pesquisa in Campina Grande State Paraiba (IPESQ) in northeastern Brazil, where the congenital infection has been particularly severe. Materials and Methods From June 2015 to May 2016, 438 patients were referred to the IPESQ for rash occurring during pregnancy or for suspected fetal central nervous system abnormality. Patients who underwent imaging at IPESQ were included, as well as those with documented Zika virus infection in fluid or tissue (n = 17, confirmed infection cohort) or those with brain findings suspicious for Zika virus infection, with intracranial calcifications (n = 28, presumed infection cohort). Imaging examinations included 12 fetal magnetic resonance (MR) examinations, 42 postnatal brain computed tomographic examinations, and 11 postnatal brain MR examinations. Images were reviewed by four radiologists, with final opinion achieved by means of consensus. Results Brain abnormalities seen in confirmed (n = 17) and presumed (n = 28) congenital Zika virus infections were similar, with ventriculomegaly in 16 of 17 (94%) and 27 of 28 (96%) infections, respectively; abnormalities of the corpus callosum in 16 of 17 (94%) and 22 of 28 (78%) infections, respectively; and cortical migrational abnormalities in 16 of 17 (94%) and 28 of 28 (100%) infections, respectively. Although most fetuses underwent at least one examination that showed head circumference below the 5th percentile, head circumference could be normal in the presence of severe ventriculomegaly (seen in three fetuses). Intracranial calcifications were most commonly seen at the gray matter-white matter junction, in 15 of 17 (88%) and 28 of 28 (100%) confirmed and presumed infections, respectively. The basal ganglia and/or thalamus were also commonly involved with calcifications in 11 of 17 (65%) and 18 of 28 (64%) infections, respectively. The skull frequently had a collapsed

  11. 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.

  12. Alterations to the remote control of Shh gene expression cause congenital abnormalities

    PubMed Central

    Hill, Robert E.; Lettice, Laura A.

    2013-01-01

    Multi-species conserved non-coding elements occur in the vertebrate genome and are clustered in the vicinity of developmentally regulated genes. Many are known to act as cis-regulators of transcription and may reside at long distances from the genes they regulate. However, the relationship of conserved sequence to encoded regulatory information and indeed, the mechanism by which these contribute to long-range transcriptional regulation is not well understood. The ZRS, a highly conserved cis-regulator, is a paradigm for such long-range gene regulation. The ZRS acts over approximately 1 Mb to control spatio-temporal expression of Shh in the limb bud and mutations within it result in a number of limb abnormalities, including polydactyly, tibial hypoplasia and syndactyly. We describe the activity of this developmental regulator and discuss a number of mechanisms by which regulatory mutations in this enhancer function to cause congenital abnormalities. PMID:23650631

  13. Abnormal topological organization of the white matter network in Mandarin speakers with congenital amusia.

    PubMed

    Zhao, Yanxin; Chen, Xizhuo; Zhong, Suyu; Cui, Zaixu; Gong, Gaolang; Dong, Qi; Nan, Yun

    2016-01-01

    Congenital amusia is a neurogenetic disorder that mainly affects the processing of musical pitch. Brain imaging evidence indicates that it is associated with abnormal structural and functional connections in the fronto-temporal region. However, a holistic understanding of the anatomical topology underlying amusia is still lacking. Here, we used probabilistic diffusion tensor imaging tractography and graph theory to examine whole brain white matter structural connectivity in 31 Mandarin-speaking amusics and 24 age- and IQ-matched controls. Amusics showed significantly reduced global connectivity, as indicated by the abnormally decreased clustering coefficient (Cp) and increased normalized shortest path length (λ) compared to the controls. Moreover, amusics exhibited enhanced nodal strength in the right inferior parietal lobule relative to controls. The co-existence of the lexical tone deficits was associated with even more deteriorated global network efficiency in amusics, as suggested by the significant correlation between the increments in normalized shortest path length (λ) and the insensitivity in lexical tone perception. Our study is the first to reveal reduced global connectivity efficiency in amusics as well as an increase in the global connectivity cost due to the co-existed lexical tone deficits. Taken together these results provide a holistic perspective on the anatomical substrates underlying congenital amusia. PMID:27211239

  14. Abnormal topological organization of the white matter network in Mandarin speakers with congenital amusia

    PubMed Central

    Zhao, Yanxin; Chen, Xizhuo; Zhong, Suyu; Cui, Zaixu; Gong, Gaolang; Dong, Qi; Nan, Yun

    2016-01-01

    Congenital amusia is a neurogenetic disorder that mainly affects the processing of musical pitch. Brain imaging evidence indicates that it is associated with abnormal structural and functional connections in the fronto-temporal region. However, a holistic understanding of the anatomical topology underlying amusia is still lacking. Here, we used probabilistic diffusion tensor imaging tractography and graph theory to examine whole brain white matter structural connectivity in 31 Mandarin-speaking amusics and 24 age- and IQ-matched controls. Amusics showed significantly reduced global connectivity, as indicated by the abnormally decreased clustering coefficient (Cp) and increased normalized shortest path length (λ) compared to the controls. Moreover, amusics exhibited enhanced nodal strength in the right inferior parietal lobule relative to controls. The co-existence of the lexical tone deficits was associated with even more deteriorated global network efficiency in amusics, as suggested by the significant correlation between the increments in normalized shortest path length (λ) and the insensitivity in lexical tone perception. Our study is the first to reveal reduced global connectivity efficiency in amusics as well as an increase in the global connectivity cost due to the co-existed lexical tone deficits. Taken together these results provide a holistic perspective on the anatomical substrates underlying congenital amusia. PMID:27211239

  15. Associations between Drugs Administered during Pregnancy and Congenital Abnormalities of the Fetus

    PubMed Central

    Nelson, Matilda M.; Forfar, John O.

    1971-01-01

    In a retrospective study to compare the drug consumption during pregnancy of mothers of infants with congenital abnormalities and of those without, over 97% of 1,369 mothers took prescribed drugs and 65% self-administered drugs. Significantly more mothers of infants with congenital abnormalities took aspirin, antacids, dextroamphetamine, phenobarbitone, sodium amytal, other barbiturates, cough medicines, iron, sulphonamides, and nicotinamide than mothers in the control group. However, most mothers taking analgesics, antacids, appetite suppressants, barbiturates, cough medicines, iron, sulphonamides, and vitamins produced normal infants. Any teratogenic effect of these drugs is therefore one of low potency. On the other hand, deficiencies such as those of ascorbic acid and folic acid may have a teratogenic effect. There is need for caution in presuming teratogenic effects on the basis of the associations shown here. During pregnancy, however, it would appear wise to avoid the administration of any drug which carries a suspicion of teratogenicity unless that drug is specifically indicated, and self-medication with common household remedies such as aspirin and antacids should be avoided. These recommendations would also apply to any woman of childbearing age in whom conception is likely. PMID:4396080

  16. 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

  17. 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.

  18. 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

  19. 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. PMID:27161352

  20. 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.

  1. 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. PMID:25354028

  2. 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

  3. 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

  4. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  5. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. PMID:24914495

  6. A population-based case-control study of oral chlordiazepoxide use during pregnancy and risk of congenital abnormalities.

    PubMed

    Czeizel, A E; Rockenbauer, M; Sørensen, H T; Olsen, J

    2004-01-01

    The objective of the study was to check the human teratogenic potential of oral chlordiazepoxide treatment during pregnancy at the analysis of pairs of 22,865 cases with congenital abnormalities (CAs) and 38,151 matched healthy controls in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA) between 1980 and 1996. Two hundred and one (0.9%) case mothers and 268 (0.7%) control mothers had chlordiazepoxide treatment during pregnancy, respectively. Our analysis showed higher odds ratio (OR) with 95% confidence interval (CI; 2.5, 1.0-6.0) for chlordiazepoxide use during the 2nd-3rd month of gestation in the group of congenital cardiovascular malformations. However, this association was found when exposure data were based mainly on maternal self-reported chlordiazepoxide treatments (80% in cases and 71% in controls). There was no increase in the rate of any specific congenital cardiovascular malformation type. In conclusion, therapeutic doses of chlordiazepoxide during pregnancy are unlikely to pose a substantial teratogenic risk to the human fetus, although a somewhat higher rate of congenital cardiovascular malformations cannot be excluded.

  7. Adaptive face space coding in congenital prosopagnosia: typical figural aftereffects but abnormal identity aftereffects.

    PubMed

    Palermo, Romina; Rivolta, Davide; Wilson, C Ellie; Jeffery, Linda

    2011-12-01

    People with congenital prosopagnosia (CP) report difficulty recognising faces in everyday life and perform poorly on face recognition tests. Here, we investigate whether impaired adaptive face space coding might contribute to poor face recognition in CP. To pinpoint how adaptation may affect face processing, a group of CPs and matched controls completed two complementary face adaptation tasks: the figural aftereffect, which reflects adaptation to general distortions of shape, and the identity aftereffect, which directly taps the mechanisms involved in the discrimination of different face identities. CPs displayed a typical figural aftereffect, consistent with evidence that they are able to process some shape-based information from faces, e.g., cues to discriminate sex. CPs also demonstrated a significant identity aftereffect. However, unlike controls, CPs impression of the identity of the neutral average face was not significantly shifted by adaptation, suggesting that adaptive coding of identity is abnormal in CP. In sum, CPs show reduced aftereffects but only when the task directly taps the use of face norms used to code individual identity. This finding of a reduced face identity aftereffect in individuals with severe face recognition problems is consistent with suggestions that adaptive coding may have a functional role in face recognition.

  8. Congenital Hydrocephalus and Abnormal Subcommissural Organ Development in Sox3 Transgenic Mice

    PubMed Central

    Lee, Kristie; Tan, Jacqueline; Morris, Michael B.; Rizzoti, Karine; Hughes, James; Cheah, Pike See; Felquer, Fernando; Liu, Xuan; Piltz, Sandra; Lovell-Badge, Robin; Thomas, Paul Q.

    2012-01-01

    Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage) of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles) is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO) a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF), a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner. PMID:22291885

  9. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

    PubMed

    Al-Owain, M; Al-Zahrani, J; Al-Bakheet, A; Abudheim, N; Al-Younes, B; Aldhalaan, H; Al-Zaidan, H; Colak, D; Almohaileb, F; Abouzied, M E; Al-Fadhli, F; Meyer, B; Kaya, N

    2013-09-01

    We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the 10K single-nucleotide polymorphism (SNP) microarray genotyping for linkage analysis. Genome-wide scan indicated a 45.9-Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome-wide human SNP array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations.

  10. Adaptive face space coding in congenital prosopagnosia: typical figural aftereffects but abnormal identity aftereffects.

    PubMed

    Palermo, Romina; Rivolta, Davide; Wilson, C Ellie; Jeffery, Linda

    2011-12-01

    People with congenital prosopagnosia (CP) report difficulty recognising faces in everyday life and perform poorly on face recognition tests. Here, we investigate whether impaired adaptive face space coding might contribute to poor face recognition in CP. To pinpoint how adaptation may affect face processing, a group of CPs and matched controls completed two complementary face adaptation tasks: the figural aftereffect, which reflects adaptation to general distortions of shape, and the identity aftereffect, which directly taps the mechanisms involved in the discrimination of different face identities. CPs displayed a typical figural aftereffect, consistent with evidence that they are able to process some shape-based information from faces, e.g., cues to discriminate sex. CPs also demonstrated a significant identity aftereffect. However, unlike controls, CPs impression of the identity of the neutral average face was not significantly shifted by adaptation, suggesting that adaptive coding of identity is abnormal in CP. In sum, CPs show reduced aftereffects but only when the task directly taps the use of face norms used to code individual identity. This finding of a reduced face identity aftereffect in individuals with severe face recognition problems is consistent with suggestions that adaptive coding may have a functional role in face recognition. PMID:21986295

  11. 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 ...

  12. Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

    PubMed

    de Pagter, Mirjam S; van Roosmalen, Markus J; Baas, Annette F; Renkens, Ivo; Duran, Karen J; van Binsbergen, Ellen; Tavakoli-Yaraki, Masoumeh; Hochstenbach, Ron; van der Veken, Lars T; Cuppen, Edwin; Kloosterman, Wigard P

    2015-04-01

    Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease.

  13. A Congenital Gerbode Defect associated with a Rare Structural Abnormality of the Mitral Valve Diagnosed in an Adult Patient

    PubMed Central

    Mateescu, Anca D.; Beladan, Carmen C.; Radulescu, Bogdan; Ginghina, Carmen; Popescu, Bogdan A.

    2016-01-01

    We report the case of a rare association of a congenital Gerbode defect with severe mitral regurgitation due to abnormal linear structure of mitral valve, diagnosed in an adult patient. The case highlights the importance of a thorough examination interpreting the echocardiographic findings on a pathophysiological basis. It also underlines the complementary role of different imaging techniques with transesophageal echocardiography, allowing the precise assessment of both structural and functional abnormalities in such a complex case. The patient underwent mitral valve replacement with a bileaflet mechanical prosthesis and repair of the Gerbode defect. The imaging findings were confirmed during the surgical procedure, leading to a good outcome. PMID:27721869

  14. No association between periconceptional multivitamin supplementation and risk of multiple congenital abnormalities: a population-based case-control study.

    PubMed

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

    2006-11-15

    Two previous Hungarian intervention trials showed that periconceptional folic acid-containing multivitamin supplementation did not change the total (birth + fetal) prevalence of cases with multiple congenital abnormalities (MCAs). However, two US observational studies found an elevated risk for MCAs in the offspring of women who reported periconceptional use of multivitamins containing folic acid. These conflicting results stimulated us to evaluate the data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities and to check the possible association between the use of periconceptional multivitamin supplementations and the total prevalence of cases with MCAs. Of 1,349 cases with MCA, 69 (5.1%) had mothers who used multivitamins during the second and third month of pregnancy. Of 2,405 matched controls without any defect, 126 (5.2%) had mothers who used multivitamin supplementation in early pregnancy. Of 21,494 malformed controls with isolated congenital abnormalities, 1,052 (4.9%) mothers received supplementation with multivitamins during the critical period of CAs including MCAs. There was no difference in the use of multivitamins among the study groups either in the total data set or at the evaluation of only prospective medically recorded data. Medically recorded folic acid use without any multivitamins in the second and third gestational month showed some protective effect for MCAs. In conclusion, our observational case-control study did not detect a folic acid containing multivitamins during the early pregnancy as a risk factor for MCAs.

  15. Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

    PubMed

    Cockwell, A E; Maloney, V K; Thomas, N S; Smith, E L; Gonda, P; Bass, P; Crolla, J A

    2006-01-01

    We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for approximately 15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations.

  16. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    PubMed

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

  17. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    PubMed Central

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

  18. Vaginal dryness

    MedlinePlus

    ... atrophic; Vaginitis due to reduced estrogen; Atrophic vaginitis; Menopause vaginal dryness ... dryness and inflammation. Estrogen levels normally drop after menopause. The following may also cause estrogen levels to ...

  19. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.

    PubMed

    Tos, T; Karaman, A; Aksoy, A; Tukun, A

    2012-01-01

    Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.

  20. 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.

  1. Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

    PubMed

    Haider, Shawkat; Matsumoto, Rie; Kurosawa, Nobuyuki; Wakui, Keiko; Fukushima, Yoshimitsu; Isobe, Masaharu

    2006-01-01

    Chromosomal translocations are frequently found to be associated with various malignant disorders as well as congenital abnormalities. We report the characterization of a novel reciprocal translocation t(5;14)(q21;q32) in a patient with congenital abnormalities manifested by severe mental retardation, athetotic tetraplegia, microcephaly, peculiar facies (upward slanting of palpebral fissures), clinodactyly of the fifth fingers, and overlapping toes. Using a JHGP24 lymphoblast cell line derived from this patient, metaphase fluorescence in situ hybridization with bacterial artificial chromosome and cosmid probes and subsequent molecular analysis mapped the translocation breakpoint to the nucleotide level. Sequence analysis of the breakpoint junctions revealed the presence of a homologous sequence, GTGGC, along with a single nucleotide substitution and an insertion in der(14), and a single nucleotide deletion in the der(5) chromosome. We also attempted to identify and characterize the transcripts near the breakpoint by 5' and 3' rapid amplification of cDNA ends. Although we found several transcripts near the breakpoint of chromosome 14, the lack of significant ORFs within these transcripts suggests they are likely to be non-coding RNAs. These transcripts may have an important role in the neurogenesis or differentiation.

  2. [Role of echocardiography in the diagnosis of congenital abnormalities of the thoracic aorta].

    PubMed

    Bozio, A; Sassolas, F; Di Filippo, S; Perroux, V; Debost, B

    1997-12-01

    Echocardiography has revolutionized the diagnosis and follow-up of congenital heart disease over the last 20 years. Permanent technological innovation in the field of ultrasonic investigation and in the limitations inherent to this technique are illustrated in the assessment of congenital disease of the aorta, the subject of this review. The role of echocardiography associated with Doppler techniques in the investigation of congenital disease of the aorta varies with age: there is no rival technique in investigation of the foetus; in neonates, infants and young children, the role of ultrasound is preponderant because of the excellent echogenicity and the high incidence of congenital aortic disease occurring in a clinical context of cardiorespiratory distress. The limitations and insufficiencies of the techniques are greater in adolescents and adults in whom other non-invasive techniques are possible in acceptable practical conditions. The reality of progress in diagnosis is demonstrated by the possibility of therapeutic indications based only on the association of clinical and echocardiographic data without need for diagnostic catheterization and angiography. The limitations of ultrasonic techniques should however be recognized to avoid inappropriate usage.

  3. No association found between use of very large doses of diazepam by 112 pregnant women for a suicide attempt and congenital abnormalities in their offspring.

    PubMed

    Gidai, J; Acs, N; Bánhidy, F; Czeizel, A E

    2008-01-01

    The teratogenic potential of diazepam is debated. The objective of this study was to examine the effects of extremely high doses of diazepam used for attempted suicide during pregnancy on embryo-fetal development. Pregnant women were identified from the female patients of the Department of Toxicology Internal Medicine, Korányi Hospital, Budapest, who had been admitted as self-poisoned subjects from the three million people of Budapest and the surrounding region. This evaluation compares the incidences and types of congenital abnormalities observed in exposed children born to mothers who attempted suicide with diazepam alone or in combination with other drugs during pregnancy with their sib controls. The database consists of a total of 1044 women with self-poisoning during pregnancy between 1960 and 1993. Of these 1044 self-poisoned pregnant women, 229 (21.9%) used diazepam with or without other drugs for a suicide attempt; 112 of these women delivered live-born infants. Doses of diazepam taken ranged between 25 and 800 mg. Of 112 exposed children, 15 (13.4%) had congenital abnormalities, whereas of their 112 matched sibs, eight (7.1%) had congenital abnormalities (odds ratios with 95% confidence intervals: 2.0, 0.8-5.0). Of 37 pregnant women who attempted suicide between the 4th and 12th postconceptional weeks, five (13.5%) delivered live-born babies with a congenital abnormality (undescended testis in two exposed children; congenital dysplasia of the hip, talipes equinovarus deformation type, congenital inguinal hernia-each in one exposed child). The suicide attempts of the mothers of these children did not occur during the critical periods for induction of these defects, indicating that the observations were unrelated to diazepam. The very large doses of diazepam used for self-poisoning during pregnancy did not increase the rate of congenital abnormalities in the offspring.

  4. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    PubMed

    Zhang, Yanli; Ren, Hongxia

    2016-01-01

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM. PMID:26797848

  5. Unilateral renal agenesis associated with additional congenital abnormalities of the urinary tract in a Pekingese bitch.

    PubMed

    Agut, A; Fernandez del Palacio, M J; Laredo, F G; Murciano, J; Bayon, A; Soler, M

    2002-01-01

    An eight-month-old Pekingese bitch with urinary incontinence was found to have three congenital anomalies of the urinary tract: left renal agenesis, bilateral ectopic ureters with a left cranial blind-ending ureter, and urinary bladder hypoplasia. The diagnoses were made by retrograde vaginourethrography, excretory urography, ultrasonography and duplex Doppler ultrasonography. Although urological anomalies associated with renal agenesis have been frequently observed, a cranial blind-end ectopic ureter has not, to the authors' knowledge, been described in the bitch. The dog was managed medically with a restricted protein diet because of a compromised unilateral kidney with hydronephrosis and hydroureter.

  6. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    PubMed Central

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  7. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    PubMed

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  8. Abnormal Development of Thalamic Microstructure in Premature Neonates with Congenital Heart Disease

    PubMed Central

    Paquette, Lisa B.; Votava-Smith, Jodie K.; Ceschin, Rafael; Nagasunder, Arabhi C.; Jackson, Hollie A.; Blüml, Stefan; Wisnowski, Jessica L.; Panigrahy, Ashok

    2015-01-01

    Background and Purpose Preterm birth is associated with alteration in cortico-thalamic development, which underlies poor neurodevelopmental outcomes. Our hypothesis was that preterm neonates with CHD would demonstrate abnormal thalamic microstructure when compared to critically ill neonates without CHD. A secondary aim was to identify any association between thalamic microstructural abnormalities and peri-operative clinical variables. Material and Methods We compared thalamic DTI measurements in 21 preterm neonates with CHD to two cohorts of neonates without CHD: 28 term and 27 preterm neonates, identified from the same neonatal intensive care unit. Comparison was made with three other selected white matter regions using ROI manual based measurements. Correlation was made with post-conceptional age and peri-operative clinical variables. Results In preterm neonates with CHD, there were age-related differences in thalamic diffusivity (axial and radial) compared to the preterm and term non-CHD group, in contrast to no differences in anisotropy. Contrary to our hypothesis, abnormal thalamic and optic radiation microstructure was most strongly associated with an elevated first arterial blood gas pO2 and elevated pre-operative arterial blood gas pH (p<0.05). Conclusion Age-related thalamic microstructural abnormalities were observed in preterm neonates with CHD. Perinatal hyperoxemia and increased peri-operative serum pH was associated with abnormal thalamic microstructure in preterm neonates with CHD. This study emphasizes the vulnerability of thalamo-cortical development in the preterm neonate with CHD. PMID:25608695

  9. 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.

  10. A possible association between acute infectious diarrhoea 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

    2010-05-01

    The possible association between Salmonella gastroenteritis (SGE) and infectious diarrhoea in pregnancy (IDP) and structural birth defects, i.e. congenital abnormalities (CA) in the offspring, has not been studied. The dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996 was evaluated. There were 15 (0.07%) and 82 (0.36%) out of 22,843 cases and 23 (0.06%) and 70 (0.18%) out of 38,151 (0.34%) controls with mothers who had medically recorded SGE and IDP, respectively. There was no association of SGE and a higher risk of CA. However, a higher risk of cleft lip +/- palate, congenital limb deficiencies, multiple CAs and cardiovascular CAs was found in the offspring of mothers with IDP. A possible explanation for the association of IDP with higher risk for some specific CAs may be the high fever in IDP.

  11. A population-based case-control study on the effect of bronchial asthma during pregnancy for congenital abnormalities of the offspring.

    PubMed

    Tamási, Lilla; Somoskövi, Akos; Müller, Veronika; Bártfai, Zoltán; Acs, Nándor; Puhó, Erzsébet; Czeizel, Andrew E

    2006-01-01

    Bronchial asthma is one of the most common maternal diseases complicating pregnancy. We assessed the risks of congenital abnormalities in a case-control population-based analysis using the dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of the 22,843 cases with congenital abnormalities, 511 (2.2%) had mothers with bronchial asthma, while of the 38,151 matched control subjects without congenital abnormalities 757 (2.0%) had mothers with bronchial asthma (unadjusted prevalence odds ratios [POR] 1.2; 95% CI: 1.0-1.3). In all mothers with bronchial asthma, a higher incidence of respiratory tract infections and higher drug intake could be observed. In the case group of medically recorded bronchial asthma, a slightly increased risk for club foot has been revealed. However, this weak association could be explained by the higher proportion of preterm births in this group. The main limitation of the analysis was that at the time of data collection only a small proportion of pregnant mothers were using anti-asthma medications recommended by the actual guidelines.

  12. A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

    PubMed

    Gijsbers, Antoinet C J; Lew, Janet Y K; Bosch, Cathy A J; Schuurs-Hoeijmakers, Janneke H M; van Haeringen, Arie; den Hollander, Nicolette S; Kant, Sarina G; Bijlsma, Emilia K; Breuning, Martijn H; Bakker, Egbert; Ruivenkamp, Claudia A L

    2009-11-01

    High-density single-nucleotide polymorphism (SNP) genotyping technology enables extensive genotyping as well as the detection of increasingly smaller chromosomal aberrations. In this study, we assess molecular karyotyping as first-round analysis of patients with mental retardation and/or multiple congenital abnormalities (MR/MCA). We used different commercially available SNP array platforms, the Affymetrix GeneChip 262K NspI, the Genechip 238K StyI, the Illumina HumanHap 300 and HumanCNV 370 BeadChip, to detect copy number variants (CNVs) in 318 patients with unexplained MR/MCA. We found abnormalities in 22.6% of the patients, including six CNVs that overlap known microdeletion/duplication syndromes, eight CNVs that overlap recently described syndromes, 63 potentially pathogenic CNVs (in 52 patients), four large segments of homozygosity and two mosaic trisomies for an entire chromosome. This study shows that high-density SNP array analysis reveals a much higher diagnostic yield as that of conventional karyotyping. SNP arrays have the potential to detect CNVs, mosaics, uniparental disomies and loss of heterozygosity in one experiment. We, therefore, propose a novel diagnostic approach to all MR/MCA patients by first analyzing every patient with an SNP array instead of conventional karyotyping.

  13. Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia

    PubMed Central

    Maheu, Françoise S.; Merke, Deborah P.; Schroth, Elizabeth A.; Keil, Margaret F.; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S.; Ernst, Monique

    2008-01-01

    Summary Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effect of these hormones on the neural networks underlying memory. Using Congenital Adrenal Hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12 to 14 years) completed the study. Subjects were presented positive, negative and neutral pictures. Memory recall occurred about 30 minutes after viewing the pictures. Children with CAH showed memory deficits for negative pictures compared to healthy children (p < 0.01). There were no group differences on memory performance for either positive or neutral pictures (p’s >0.1). In patients, 24h urinary-free cortisol levels (reflecting glucocorticoid replacement therapy) and testosterone levels were not associated with memory performance. These findings suggest that early steroid imbalances affect memory for negative material in children with CAH. Such memory impairments may result from abnormal brain organization and function following hormonal dysfunction during critical periods of development. PMID:18162329

  14. Vaginal cysts

    MedlinePlus

    Inclusion cyst; Gartner duct cyst ... There are several types of vaginal cysts. Vaginal inclusion cysts are the most common. These may form as a result of injury to the vaginal walls during birth process ...

  15. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    PubMed

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  16. Genetic abnormalities in FOXP1 are associated with congenital heart defects.

    PubMed

    Chang, Sheng-Wei; Mislankar, Mona; Misra, Chaitali; Huang, Nianyuan; Dajusta, Daniel G; Harrison, Steven M; McBride, Kim L; Baker, Linda A; Garg, Vidu

    2013-09-01

    The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.

  17. Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.

    PubMed

    Faas, B H W; Van Der Deure, J; Wunderink, M I; Merkx, G; Brunner, H G

    2006-01-01

    Pure partial duplication or triplication of the proximal part of chromosome 14 has been reported in only 4 patients. Other individuals with a duplication or triplication of this region have additional chromosome imbalances. We present a new case with a supernumerary marker chromosome in all blood cells and in 35% of the cells an additional smaller marker chromosome. Both markers appeared to be derived from chromosome 14 (del(14)(q21.2) in all cells and del(14)(q11.2) in 35% of the cells). This results in a partial duplication of the proximal region of chromosome 14, combined with a mosaic partial triplication of a smaller segment of the same region. In this paper, we compare the clinical features of this case to those of cases from the literature. Although most of the patients from literature were unbalanced translocation carriers, their clinical features were comparable, except from renal abnormalities.

  18. 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

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

    SciTech Connect

    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. Other 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.

  20. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

    PubMed

    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.

  1. 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 ...

  2. Is vaginal hyaluronic acid as effective as vaginal estriol for vaginal dryness relief?

    PubMed

    Stute, Petra

    2013-12-01

    .31). At V2, the percentage improvement rates were 84 and 89 % (p = 0.13), respectively. Improvement rates for vaginal itching, burning, and dyspareunia at V2 were about 86, 85, and 57 % for hyaluronic acid vaginal gel, and 82, 87, and 62 % for estriol vaginal cream (p[0.05), respectively. After treatment, vaginal pH was significantly lower in estriol-treated women compared to those having received hyaluronic acid. Endometrial thickness did not differ between groups. In the majority of women, the vaginal microenvironment remained unaffected by treatment. However, the proportion of women whose abnormal vaginal microecological results became normal was higher in women using estriol vaginal cream. Adverse events (suspected to be) related to the investigational compounds were minor and included vaginal infection and genital itching. The authors concluded that hyaluronic acid vaginal gel was not inferior to estriol vaginal cream in women presenting with vaginal dryness. They suggest using hyaluronic acid vaginal gel not only as an alternative treatment to vaginal estrogens, but also to consider its general use in women presenting with vaginal dryness of any cause.

  3. 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…

  4. C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain.

    PubMed

    Bykhovskaya, Yelena; Caiado Canedo, Ana L; Wright, Kenneth W; Rabinowitz, Yaron S

    2015-01-01

    A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. This finding represents a third independent occurrence of this mutation in familiar ocular disease thus strengthening the link between miR-184 abnormalities and inherited eye defects.

  5. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  6. Antiretroviral therapy and congenital abnormalities in infants born to HIV-1-infected women in the United Kingdom and Ireland, 1990 to 2003.

    PubMed

    Townsend, Claire L; Tookey, Pat A; Cortina-Borja, Mario; Peckham, Catherine S

    2006-05-01

    Antiretroviral therapy (ART) in pregnancy substantially reduces the risk of mother-to-child transmission of HIV, but concerns exist about the potential for teratogenic effects. This analysis was undertaken to explore the relation between ART in pregnancy and birth defects in infants born to HIV-infected women in the United Kingdom and Ireland between 1990 and 2003. Comprehensive obstetric and pediatric HIV surveillance is carried out through the National Study of HIV in Pregnancy and Childhood. Congenital abnormalities were reported in 101 of 3172 infants (100 of 3120 pregnancies). There was no statistically significant association between the prevalence of congenital abnormalities and exposure to ART overall: 3.4% (90 of 2657 pregnancies) in exposed pregnancies and 2.2% (10 of 463 pregnancies) in nonexposed pregnancies (P = 0.166); prevalence was similar whether or not exposure occurred in the first trimester: 3.7% (20 of 541 pregnancies) after early exposure and 3.1% (80 of 2579 pregnancies) without early exposure (P = 0.476). There was also no significant association with type of ART in early pregnancy (ie, highly active antiretroviral therapy [HAART] vs. mono- or dual therapy, HAART with protease inhibitor and/or nonnucleoside reverse transcriptase inhibitor). The lack of association was maintained after adjustment for potential confounding factors. These findings are reassuring, but continued monitoring is essential in view of the increasing number of women on therapy at conception and the likely continuing diversity of drug regimens.

  7. Distal 8p deletion (8) (p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation

    SciTech Connect

    Wu, Bai-Lin; Schneider, G.H.; Sabatino, D.E.

    1996-03-01

    We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolution G and R banding showed in all three patients del(8)(p23.1), but the breakpoint in case 1 was distal to 8p23.1, in case 2 was in the middle of 8p23.1, and in case 3 proximal to 8p23.1. Fluorescence in situ hybridization (FISH) studies with a chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH with a chromosome 8-specific telomere probe indicated that two patients had terminal deletions. Chromosome analysis of the parents of case 1 and mother of case 2 were normal; the remaining parents were not available for study. Thirteen individual patients including the three in this study, and three relatives in one family with del(8)(p23.1), have been reported in the past 5 years. Major congenital anomalies, especially congenital heart defects, are most often associated with a breakpoint proximal to 8p23.1. Three patients were found within a 3-year period in this study and five cases were found within 4 years by another group, indicating that distal 8p deletion might be a relatively common chromosomal abnormality. This small deletion is easily overlooked (i.e., cases 1 and 2 were reported as normal at amniocentesis) and can be associated with few or no major congenital anomalies. 31 refs., 4 figs., 2 tabs.

  8. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014.

    PubMed

    Mao, Shujiong; Sun, Liying; Tu, Miaoying; Zou, Chaochun; Wang, Xiumin

    2015-10-01

    This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis.From January 1, 2011 to March 31, 2014, children who were suspected with chromosomal disorders were included. All the cytogenetic analyses were performed in the Medical Biology and Genetic Department Laboratory in Zhejiang DIAN Diagnostics. We evaluated the variants of clinical indications, and incidence and types of chromosomal abnormalities among groups.During the study period, 4129 samples were collected and analyzed. Among them, 769 children were detected with chromosome abnormalities, accounting for 18.62% of all referral cases. The ratio of sex-linked chromosomal abnormalities to autosomal ones was 1:3.2. The detection rates were 19.66% (365/1857) for boys and 17.78% (404/2272) for girls. Most of trisomy 21 were found before the age of 1 year old, while most of children with Turner syndrome were found after 6 years old. The group presenting with specific clinical stigmata had highest detection rate of 59.1%.We demonstrated the detection rates of chromosome abnormalities in children who were suspected with chromosomal disorders. Combined with previous report, we established a database of common chromosomal anomalies and the clinical features that could be useful for genetic counseling and remind the medical professionals what kind of patients should be transferred to genetic analysis.

  9. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014

    PubMed Central

    Mao, Shujiong; Sun, Liying; Tu, Miaoying; Zou, Chaochun; Wang, Xiumin

    2015-01-01

    Abstract This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis. From January 1, 2011 to March 31, 2014, children who were suspected with chromosomal disorders were included. All the cytogenetic analyses were performed in the Medical Biology and Genetic Department Laboratory in Zhejiang DIAN Diagnostics. We evaluated the variants of clinical indications, and incidence and types of chromosomal abnormalities among groups. During the study period, 4129 samples were collected and analyzed. Among them, 769 children were detected with chromosome abnormalities, accounting for 18.62% of all referral cases. The ratio of sex-linked chromosomal abnormalities to autosomal ones was 1:3.2. The detection rates were 19.66% (365/1857) for boys and 17.78% (404/2272) for girls. Most of trisomy 21 were found before the age of 1 year old, while most of children with Turner syndrome were found after 6 years old. The group presenting with specific clinical stigmata had highest detection rate of 59.1%. We demonstrated the detection rates of chromosome abnormalities in children who were suspected with chromosomal disorders. Combined with previous report, we established a database of common chromosomal anomalies and the clinical features that could be useful for genetic counseling and remind the medical professionals what kind of patients should be transferred to genetic analysis. PMID:26496335

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

    SciTech Connect

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. ); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya )

    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 to 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.

  11. Vaginal Discharge

    MedlinePlus

    ... also be on the lookout for symptoms of yeast infections, bacterial vaginosis and trichomoniasis, 3 infections that ... cause changes in your vaginal discharge. Signs of yeast infections White, cottage cheese-like discharge Swelling and ...

  12. Vaginal Infections

    MedlinePlus

    ... Two common vaginal infections are bacterial vaginosis and yeast infections . Bacterial vaginosis (BV) happens when a certain ... increases the chances that you’ll get BV. Yeast infections happen when a fungus (a type of ...

  13. Estrogen Vaginal

    MedlinePlus

    ... estradiol vaginal ring is also used to treat hot flushes ('hot flashes'; sudden strong feelings of heat and sweating) ... mild soap and warm water. Do not use hot water or boil the applicator. Ask your pharmacist ...

  14. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  15. Vaginal reconstruction

    SciTech Connect

    Lesavoy, M.A.

    1985-05-01

    Vaginal reconstruction can be an uncomplicated and straightforward procedure when attention to detail is maintained. The Abbe-McIndoe procedure of lining the neovaginal canal with split-thickness skin grafts has become standard. The use of the inflatable Heyer-Schulte vaginal stent provides comfort to the patient and ease to the surgeon in maintaining approximation of the skin graft. For large vaginal and perineal defects, myocutaneous flaps such as the gracilis island have been extremely useful for correction of radiation-damaged tissue of the perineum or for the reconstruction of large ablative defects. Minimal morbidity and scarring ensue because the donor site can be closed primarily. With all vaginal reconstruction, a compliant patient is a necessity. The patient must wear a vaginal obturator for a minimum of 3 to 6 months postoperatively and is encouraged to use intercourse as an excellent obturator. In general, vaginal reconstruction can be an extremely gratifying procedure for both the functional and emotional well-being of patients.

  16. Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study.

    PubMed

    Bánhidy, Ferenc; Dakhlaoui, Abdallah; Puhó, Erzsébet H; Czeizel, Andrew A E

    2011-06-01

    The objective of the present study was to estimate the preventive effect of folic acid for structural birth defects (i.e. congenital abnormalities [CAs]) in the offspring of pregnant women with diabetes mellitus type 1 (DM-1). The occurrence of medically recorded DM-1 in pregnant women who had malformed fetuses/newborns (cases) and delivered healthy babies (controls) with or without folic acid supplementation was compared in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. The case group included 22,843 offspring, and there were 79 (0.35%) pregnant women with DM-1, while the control group comprised of 38,151 newborns, and 88 (0.23%) had mothers with DM-1. Case mothers with DM-1 associated with a higher risk of total rate of CAs in their offspring (OR with 95% CI: 1.5, 1.1-2.0) compared to the total rate of CAs in the offspring of non-diabetic case mothers. This higher risk can be explained by four specific types/groups of CAs: isolated renal a/dysgenesis; obstructive CA of the urinary tract; cardiovascular CAs; and multiple CAs, namely caudal dysplasia sequence. However, there was no higher rate of total CAs in the children of pregnant women with DM-1 after folic acid supplementation; in addition, neural-tube defect and renal a/dysgenesis did not occur. However, this benefit cannot be explained by the CA reduction effect of folic acid during the critical period of major CAs. In conclusion, there was a certain reduction in maternal teratogenic effect of DM-1 after folic acid supplementation during pregnancy, but the explanation of this effect requires further study.

  17. Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.

    PubMed

    Scurry, Alexandra N; Heredia, Dante J; Feng, Cheng-Yuan; Gephart, Gregory B; Hennig, Grant W; Gould, Thomas W

    2016-04-01

    Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, CMT1A. This hereditary peripheral neuropathy is characterized by dysmyelination of peripheral nerves, reduced nerve conduction velocity, and muscle weakness. APMP22 point mutation in L16P (leucine 16 to proline) underlies a form of human CMT1A as well as the Trembler-J mouse model of CMT1A. Homozygote Trembler-J mice (Tr(J)) die early postnatally, fail to make peripheral myelin, and, therefore, are more similar to patients with congenital hypomyelinating neuropathy than those with CMT1A. Because recent studies of inherited neuropathies in humans and mice have demonstrated that dysfunction and degeneration of neuromuscular synapses or junctions (NMJs) often precede impairments in axonal conduction, we examined the structure and function of NMJs in Tr(J)mice. Although synapses appeared to be normally innervated even in end-stage Tr(J)mice, the growth and maturation of the NMJs were altered. In addition, the amplitudes of nerve-evoked muscle endplate potentials were reduced and there was transmission failure during sustained nerve stimulation. These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing NMJ.

  18. Self-organisation in the human visual system--visuo-motor processing with congenitally abnormal V1 input.

    PubMed

    Wolynski, Barbara; Kanowski, Martin; Meltendorf, Synke; Behrens-Baumann, Wolfgang; Hoffmann, Michael B

    2010-11-01

    Due to an abnormal projection of the temporal retina the albinotic primary visual cortex receives substantial input from the ipsilateral visual field. To test whether representation abnormalities are also evident in higher tier visual, and in motor and somatosensory cortices, brain activity was measured with fMRI in 14 subjects with albinism performing a visuo-motor task. During central fixation, a blue or red target embedded in a distractor array was presented for 250 ms in the left or right visual hemifield. After a delay, the subjects were prompted to indicate with left or right thumb button presses the target presence in the upper or lower hemifield. The fMRI responses were evaluated for different regions of interest concerned with visual, motor and somatosensory processing and compared to previously acquired data from 14 controls. The following results were obtained: (1) in albinism the hit rates in the visuo-motor task were indistinguishable from normal. (2) In area MT and the intraparietal sulcus there was an indication of abnormal lateralisation patterns. (3) Largely normal lateralisation patterns were evident in motor and somatosensory cortices. It is concluded that in human albinism, the abnormal visual field representation is made available for visuo-motor processing with a motor cortex that comprises an essentially normal lateralisation. Consequently, specific adaptations of the mechanisms mediating visuo-motor integration are required in albinism. PMID:20863844

  19. [Vaginal candidiasis].

    PubMed

    Vaginal candidiasis is an infection caused by a fungus. Normally found in the vagina, it usually has no symptoms but can cause problems when it grows uncontrollably. The infection can be caused by antibiotics or chronic illnesses, such as diabetes or HIV. Symptoms include a white discharge, irritation, and itching which can cause small lesions. A physician can perform a pelvic exam to diagnose candidiasis. Anti-fungal cremes, including nystatin, clotrimazole, micona zole, or suppositories used for one to two weeks can treat candidiasis. Chronic cases may require oral anti-fungal medications. Oral Diflucan is being studied for the prevention of oral and vaginal candidiasis.

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

    MedlinePlus

    ... period 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 ...

  1. Total hip arthroplasty to treat congenital musculoskeletal abnormalities in the juvenile Down Syndrome hip: review of literature with case.

    PubMed

    Taylor, Drew W; MacDonald, Matthew P; Kosashvili, Yona; Gross, Allan E

    2012-05-01

    Down Syndrome can result in musculoskeletal abnormalities of the hip at an early age. Avascular necrosis of the femoral head can occur as a result of slipped capital femoral epiphysis causing the patient a great deal of pain, limiting the ability to ambulate. Despite the benefits that this patient group can receive from the surgery, surgeons may be apprehensive to operate. It is our experience that these patients benefit greatly from arthroplasty without complication. In this report, we present a total hip replacement to treat avascular necrosis in an adolescent and address the concerns that surgeons may have in treating this patient population.

  2. [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. PMID:27475006

  3. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

    PubMed

    Delague, Valérie; Bareil, Corinne; Bouvagnet, Patrice; Salem, Nabiha; Chouery, Eliane; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

    2002-03-01

    Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

  4. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

    PubMed Central

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-01-01

    Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings. PMID:27488005

  5. 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.

  6. Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

    PubMed

    Hemmat, Morteza; Yang, Xiaojing; Chan, Patricia; McGough, Robert A; Ross, Leslie; Mahon, Loretta W; Anguiano, Arturo L; Boris, Wang T; Elnaggar, Mohamed M; Wang, Jia-Chi J; Strom, Charles M; Boyar, Fatih Z

    2014-01-01

    Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient's developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient.

  7. Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

    PubMed Central

    2014-01-01

    Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving three or more cytogenetic breakpoints on two or more chromosomal pairs. The phenotypic anomalies in such cases are attributed to gene disruption, superimposed cryptic imbalances in the genome, and/or position effects. We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. Chromosome and FISH analysis indicated a highly complex chromosomal rearrangement involving three chromosomes (3, 7 and 12), seven breakpoints as a result of one inversion, two insertions, and two translocations forming three derivative chromosomes. Additionally, chromosomal microarray study (CMA) revealed two submicroscopic deletions at 3p12.3 (467 kb) and 12q13.12 (442 kb). We postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient’s developmental delay, since it has potential activity-dependent role in neurons. Additionally, factors other than genomic deletions such as loss of function or position effects may also contribute to the abnormal phenotype in our patient. PMID:25478007

  8. Vaginal sponge and spermicides

    MedlinePlus

    ... counter; Contraceptives - over the counter; Family planning - vaginal sponge; Contraception - vaginal sponge ... Spermicides and vaginal sponges do not work as well at preventing pregnancy as some other forms of birth control. However, using a spermicide ...

  9. Is aortopathy in bicuspid aortic valve disease a congenital defect or a result of abnormal hemodynamics? A critical reappraisal of a one-sided argument.

    PubMed

    Girdauskas, Evaldas; Borger, Michael A; Secknus, Maria-Anna; Girdauskas, Gracijus; Kuntze, Thomas

    2011-06-01

    Although there is adequate evidence that bicuspid aortic valve (BAV) is an inheritable disorder, there is a great controversy regarding the pathogenesis of dilatation of the proximal aorta. The hemodynamic theory was the first explanation for BAV aortopathy. The genetic theory, however, has become increasingly popular over the last decade and can now be viewed as the clearly dominant one. The widespread belief that BAV disease is a congenital disorder of vascular connective tissue has led to more aggressive treatment recommendations of the proximal aorta in such patients, approaching aortic management recommendations for patients with Marfan syndrome. There is emerging evidence that the 'clinically normal' BAV is associated with abnormal flow patterns and asymmetrically increased wall stress in the proximal aorta. Recent in vitro and in vivo studies on BAV function provide a unique hemodynamic insight into the different phenotypes of BAV disease and asymmetry of corresponding aortopathy even in the presence of a 'clinically normal' BAV. On the other hand, there is a subgroup of young male patients with BAV and a root dilatation phenotype, who may present the predominantly genetic form of BAV disease. In the face of these important findings, we feel that a critical review of this clinical problem is timely and appropriate, as the prevailing BAV-aortopathy theory undoubtedly affects the surgical approach to this common clinical entity. Thorough analysis of the recent literature shows a growing amount of evidence supporting the hemodynamic theory of aortopathy in patients with BAV disease. Data from recent studies requires a reevaluation of our overwhelming support of the genetic theory, and obliges us to acknowledge that hemodynamics plays an important role in the development of this disease process. Given the marked heterogeneity of BAV disease, further studies are required in order to more precisely determine which theory is the 'correct' one for explaining the

  10. 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." PMID:25726292

  11. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  12. Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study.

    PubMed

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

    2008-09-01

    Multiple congenital abnormalities (MCA) represent the most severe category of structural birth defects, (i.e. congenital abnormalities [CA]). Unfortunately, most MCA are not recognized and/or identified as MCA syndromes or MCA associations in the clinical practice. The term unclassified MCA (UMCA) is used for this category of MCA. We decided to evaluate the component CA of UMCA cases. The population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) was evaluated. 'False' MCA, such as complex CA, polytopic field defects and sequences were excluded from the category of MCA. In addition, MCA syndromes caused by chromosomal aberrations and major mutant genes with preconceptional origin were excluded from the dataset of the Surveillance. MCA syndromes caused by teratogens and MCA associations with well-defined component CA were also excluded in the study. Thus, only UMCA cases (i) without the recognition of previously delineated MCA syndromes (ii) and/or without the identification of new MCA syndromes or (iii) caused by random combination of CA were included in the study. We compared data from 1349 cases with UMCA, 2405 matched population controls without any CA, and 21 494 malformed controls with isolated CA. There was a higher rate of stillbirth and a moderate male excess in UMCA cases, a somewhat shorter gestational age at delivery and an obvious reduction in birthweight. The intrauterine fetal growth retardation and rate of low-birthweight newborns showed an association with the number of component CA in UMCA cases. A similar association was not found with gestational age and the rate of preterm birth. UMCA represent one of the most severe categories of CA. The degree of intrauterine fetal growth retardation depends on number of component CA in UMCA cases.

  13. Postpartum Vaginal Stenosis Due to Chemical Vaginitis.

    PubMed

    Kaur, Gurcharan; Sinha, Maruti; Gupta, Ridhima

    2016-05-01

    Acquired vaginal stenosis is a rare obstructing anomaly, which can be caused by use of chemicals in the vagina. A 21-year-old gravida 1 para 1, presented with secondary amenorrhea and inability to have sexual intercourse, after normal spontaneous vaginal delivery complicated by post partum bleeding. The delivery was conducted by untrained traditional birth attendant at home. The wash cloth soaked with caustic soda was packed in the patient's vagina and was left in situ for 10 days, which ultimately led to the severe scarring and stenosis of the vagina. Patient underwent surgical management and the extensive vaginal adhesions were excised and a patent vagina was reconstructed. Patient then reported successful vaginal intercourse without dyspareunia. Post partum vaginal stenosis due to chemical vaginitis is rare. These cases can be prevented by adequate training of untrained health care workers. PMID:27437311

  14. Postpartum Vaginal Stenosis Due to Chemical Vaginitis

    PubMed Central

    Kaur, Gurcharan; Gupta, Ridhima

    2016-01-01

    Acquired vaginal stenosis is a rare obstructing anomaly, which can be caused by use of chemicals in the vagina. A 21-year-old gravida 1 para 1, presented with secondary amenorrhea and inability to have sexual intercourse, after normal spontaneous vaginal delivery complicated by post partum bleeding. The delivery was conducted by untrained traditional birth attendant at home. The wash cloth soaked with caustic soda was packed in the patient’s vagina and was left in situ for 10 days, which ultimately led to the severe scarring and stenosis of the vagina. Patient underwent surgical management and the extensive vaginal adhesions were excised and a patent vagina was reconstructed. Patient then reported successful vaginal intercourse without dyspareunia. Post partum vaginal stenosis due to chemical vaginitis is rare. These cases can be prevented by adequate training of untrained health care workers. PMID:27437311

  15. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  16. Vaginal yeast infection

    MedlinePlus

    Medicines to treat vaginal yeast infections are available as creams, ointments, vaginal tablets or suppositories and oral tablets. Most can be bought without needing to see your provider. Treating yourself at home is probably OK if: Your ...

  17. Assisted Vaginal Delivery

    MedlinePlus

    ... having a repeat assisted vaginal delivery in a future pregnancy? If you have had one assisted vaginal ... a vacuum device. Vacuum Device: A metal or plastic cup that is applied to the fetus’ head ...

  18. Vaginal Yeast Infection

    MedlinePlus

    ... t diagnose this condition by a person’s medical history and physical examination. They usually diagnose yeast infection by examining vaginal secretions under a microscope for evidence of yeast. Treatment Various antifungal vaginal ...

  19. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.

    PubMed

    Bui, Peter H; Dorrani, Naghmeh; Wong, Derek; Perens, Gregory; Dipple, Katrina M; Quintero-Rivera, Fabiola

    2013-07-01

    Deletions of the long arm of chromosome 18 have been previously reported in many patients. Most cases involve the more distal regions of the long arm (18q21.1->qter). However, proximal interstitial deletions involving 18q11.2 are extremely rare. Here we report on a 14-month-old female with a 4.7 Mb (19,667,062-24,401,876 hg19) de novo interstitial deletion within chromosomal band 18q11.2, which includes GATA6 and 24 other RefSeq genes. The clinical features of our patient include complex congenital heart defects, a double outlet right ventricle, a subaortic ventricular septal defect, D-malposed great arteries, an atrial septal defect, a dysplastic aortic valve and patent ductus arteriosus. In addition, she had renal anomalies-a duplicated collecting system on the left and mild right hydronephrosis. These heart and renal defects are not reported in other patients with 18q proximal interstitial deletions. Heterozygous point mutations in GATA6, encoding for a zinc finger transcription factor, have been shown to cause congenital heart defects. Given the well-established biological role of GATA6 in cardiac development, a deletion of GATA6 is very likely responsible for our patient's complex congenital heart defects. This is the smallest and most proximal 18q11.2 deletion involving GATA6 that is associated with complex congenital heart disease and renal anomalies.

  20. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  1. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

    PubMed

    Salpietro, Vincenzo; Ruggieri, Martino; Mankad, Kshitij; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro, Maria Pia; Capalbo, Anna; Bernardini, Laura; Novelli, Antonio; Polizzi, Agata; Seidler, Daniela G; Arrigo, Teresa; Briuglia, Silvana

    2015-09-01

    Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar vermis. She presented with severe pre- and post-natal growth failure, hyperextensible small joints (Beighton scores = 8/9; with normal parental scores), and an abnormally elastic, redundant skin. Abnormally high upper/lower segment ratio (i.e., 1.34 = > 3SD), mild dysmorphic facial features and developmental delay were also present. The girl's phenotype was compared with: (i) two girls, each previously reported by Bisgaard et al. and Caselli et al. with similar albeit larger (2.6-7.21 Mb) deletions; (ii) seven additional individuals (6 M; 1 F) harboring deletions within the 6q25.1 region reported in the literature; and (iii) ten further patients (5 M; 4 F; 1 unrecorded sex) recorded in the DECIPHER 6.0 database. We reported on the present girl as her findings could contribute to advance the phenotype of 6q deletions. In addition, the present deletion is the smallest so far recorded in the 6q25 region encompassing eight known genes [vs. 41 of Bisgaard et al., and 23 of Caselli et al.,], including the TAB2 (likely responsible for the girl's congenital heart defect), LATS1 gene, and the UST gene (a regulator of the homeostasis of proteoglycans, which could have played a role in the abnormal dermal and cartilage elasticity).

  2. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

    PubMed

    Salpietro, Vincenzo; Ruggieri, Martino; Mankad, Kshitij; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro, Maria Pia; Capalbo, Anna; Bernardini, Laura; Novelli, Antonio; Polizzi, Agata; Seidler, Daniela G; Arrigo, Teresa; Briuglia, Silvana

    2015-09-01

    Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar vermis. She presented with severe pre- and post-natal growth failure, hyperextensible small joints (Beighton scores = 8/9; with normal parental scores), and an abnormally elastic, redundant skin. Abnormally high upper/lower segment ratio (i.e., 1.34 = > 3SD), mild dysmorphic facial features and developmental delay were also present. The girl's phenotype was compared with: (i) two girls, each previously reported by Bisgaard et al. and Caselli et al. with similar albeit larger (2.6-7.21 Mb) deletions; (ii) seven additional individuals (6 M; 1 F) harboring deletions within the 6q25.1 region reported in the literature; and (iii) ten further patients (5 M; 4 F; 1 unrecorded sex) recorded in the DECIPHER 6.0 database. We reported on the present girl as her findings could contribute to advance the phenotype of 6q deletions. In addition, the present deletion is the smallest so far recorded in the 6q25 region encompassing eight known genes [vs. 41 of Bisgaard et al., and 23 of Caselli et al.,], including the TAB2 (likely responsible for the girl's congenital heart defect), LATS1 gene, and the UST gene (a regulator of the homeostasis of proteoglycans, which could have played a role in the abnormal dermal and cartilage elasticity). PMID:25940952

  3. Introduction: December 2015 HeartWeek Issue of Cardiology in the Young - Highlights of HeartWeek 2015: Challenges and Dilemmas of Pediatric Cardiac Care including Heart Failure in Children and Congenital Abnormalities of the Coronary Arteries.

    PubMed

    Jacobs, Jeffrey P

    2015-12-01

    This December Issue of Cardiology in the Young represents the 13th annual publication in Cardiology in the Young generated from the two meetings that composed "HeartWeek in Florida". "HeartWeek in Florida", the joint collaborative project sponsored by the Cardiac Centre at the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, together with Johns Hopkins All Children's Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. "HeartWeek in Florida" combines the International Symposium on Congenital Heart Disease, organised by All Children's Hospital and Johns Hopkins Medicine, and entering its 16th year, with the Annual Postgraduate Course in Paediatric Cardiovascular Disease, organised by The Children's Hospital of Philadelphia entering its 19th year. This December 2015 Issue of Cardiology in the Young features highlights of the two meetings that compose HeartWeek. Johns Hopkins All Children's Heart Institute's 15th Annual International Symposium on Congenital Heart Disease was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from Friday, 6 February, 2015, to Monday, 9 February, 2015. This Symposium was co-sponsored by The American Association for Thoracic Surgery and its special focus was "Congenital Abnormalities of the Coronary Arteries". The Children's Hospital of Philadelphia's annual meeting - Cardiology 2015, the 18th Annual Update on Paediatric and Congenital Cardiovascular Disease: "Challenges and Dilemmas" - was held at the Hyatt Regency Scottsdale Resort and Spa at Gainey Ranch, Scottsdale, Arizona, from Wednesday, 11 February, 2015, to Sunday, 15 February, 2015. We would like to acknowledge the tremendous contributions made to paediatric and congenital cardiac care

  4. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

    PubMed

    Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T

    2014-05-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

  5. [Callus distraction for lengthening of mid-hand and finger stumps in congenital hand abnormalities--personal results and review of the literature].

    PubMed

    Hierner, R; Wilhelm, K; Brehl, B

    1998-05-01

    Distraction-lengthening technique is quite useful in a variety of congenital hand deformities with hypoplastic, or primary normal but secondary shortened (constriction ring syndrome) finger rays. It appears that around the age of two years is the earliest practical time to start distraction; certainly distraction and secondary surgical procedures to improve function should be completed before school entry age whenever possible. Between June 1990 and March 1993, nine distraction lengthening procedures (5 thumbs, 1 index, 3 little fingers) in five patients presenting with congenital hand deformities, were carried out. Although restoring length to the finger, lengthening does not provide normal circumference or, of course, interphalangeal joint motion. Amelioration in function seems to be more important than the esthetic gain. Distraction lengthening tolerates only few errors of indication, operative technique, and/or postoperative management. A high compliance of the patient and her/his parents as well as a close follow-up by an experienced surgeon, are mandatory for a good result. A variety of possible complications have been described. Generally, complication risk increases in cases of simultaneous and multiple level lengthening. Provided adequate operative technique and postoperative care, superficial pin infection and fracture in the region of distraction are the major complications. Contrary to adults, sufficient bone formation by distraction is the rule in children. Therefore, the distraction-lengthening technique is preferred to the distraction-interposition technique in the treatment of congenital hand deformities. The latter should only be used as a salvage procedure in the rare cases of insufficient callus formation. Because of the missing growth potential and reduced joint mobility, distraction lengthening is the therapy of second choice when compared to microvascular second toe transplantation. PMID:9677484

  6. Autism and Congenital Blindness.

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Lee, Anthony; Brown, Rachel

    1999-01-01

    This study compared a group of nine children (ages 3 to 8) with congenital blindness and an autism-like syndrome with nine sighted children. Children with autism had more severe abnormalities in terms of their relationships with people and emotional expressions, and were more impaired in the area of pretend play. (CR)

  7. Lack of Correlation of Vaginal Impedance Measurements with Hormone Levels in the Rat

    PubMed Central

    SINGLETARY, SYLVIA J.; KIRSCH, ALAN J.; WATSON, JULIE; KARIM, BAKTIAR O.; HUSO, DAVID L.; HURN, PATRICIA D.; MURPHY, STEPHANIE J.

    2005-01-01

    Hormone levels vary in female rats depending on estrous cycle stage. Vaginal cytology is a reliable method of staging female rats, but vaginal impedance offers an alternative depending on application. We sought to correlate vaginal impedance in cycling female rats with hormone levels. Vaginal cytology was the standard for comparison and verification of estrous cycle stage. Female rats (n = 41) were evaluated twice daily for 15 days via vaginal cytology and impedance to evaluate two or three estrous cycles per rat. During the last 5 days of the study, selected anesthetized sampling groups (n = 3 or 4 rats per group) were bled terminally at each time point to allow hormone determinations concurrently with vaginal cytology and impedance. Rats with abnormal vaginal smears or discharges (n = 5) were evaluated for reproductive tract histology. Rats classified in estrus by vaginal cytology had significantly higher vaginal impedance values than did nonestrus rats, but vaginal impedance and estrous cycle stage as determined by vaginal cytology did not correlate. Because of small sampling size in nonproestrus groups, correlation between vaginal impedance and hormone levels was evaluated only in proestrus rats (n = 22) and was nonsignificant. No correlation occurred between vaginal impedance and hormone levels in unstaged rats (n = 41). Two animals evaluated for reproductive tract histology showed evidence of pseudopregnancy. Vaginal impedance may be useful in distinguishing estrus from nonestrus rats but may be limited for chronic estrous cycle monitoring because of the possible risk of inducing pseudo pregnancy. PMID:16370578

  8. Regional Microstructural and Volumetric Magnetic Resonance Imaging (MRI) Abnormalities in the Corpus Callosum of Neonates With Congenital Heart Defect Undergoing Cardiac Surgery.

    PubMed

    Hagmann, Cornelia; Singer, Jitka; Latal, Beatrice; Knirsch, Walter; Makki, Malek

    2016-03-01

    The purpose of the study is to investigate the structural development of the corpus callosum in term neonates with congenital heart defect before and after surgery using diffusion tensor imaging and 3-dimensional T1-weighted magnetic resonance imaging (MRI). We compared parallel and radial diffusions, apparent diffusion coefficient (ADC), fractional anisotropy, and volume of 5 substructures of the corpus callosum: genu, rostral body, body, isthmus, and splenium. Compared to healthy controls, we found a significantly lower volume of the splenium and total corpus callosum and a higher radial diffusion and lower fractional anisotropy in the splenium of patients presurgery; a lower volume in all substructures in the postsurgery group; higher radial diffusion in the rostral body, body, and splenium; and a higher apparent diffusion coefficient in the splenium of postsurgery patients. Similar fractional anisotropy changes in congenital heart defect patients were reported in preterm infants. Our findings in apparent diffusion coefficient in the splenium of these patients (pre and postsurgery) are comparable to findings in preterm neonates with psychomotor delay. Delayed maturation of the isthmus was also reported in preterm infants.

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

    PubMed

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

    2016-01-01

    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. PMID:27333925

  10. Primary Vaginal Adenocarcinoma Arising in Vaginal Adenosis After CO2 Laser Vaporization and 5-Fluorouracil Therapy

    PubMed Central

    Paczos, Tamera A.; Ackers, Stacey; Odunsi, Kunle; Lele, Shashikant; Mhawech-Fauceglia, Paulette

    2016-01-01

    Summary We present a case of a 45-year-old woman with a long-standing history of persistent cervical dysplasia that resulted in a hysterectomy. Subsequent vaginal smears revealed high-grade vaginal intraepithelial neoplasia (VAIN III) on Pap smear with positive human papilloma virus (HPV) testing. Over the course of 2 years, the patient underwent 2 CO2 laser vaporization procedures of the upper vagina and intermittent 5-fluorouracil therapy. A biopsy performed at the time of the second laser procedure revealed endocervical-type well-differentiated adenocarcinoma, associated with VAIN III. HPV in situ hybridization for HPV types 16 and 18 was positive in both the glandular and squamous mucosa. The patient has no known history of intrauterine diethylstilbestrol exposure or mullerian developmental abnormalities. Subsequently, the patient underwent a radical upper vaginetcomy with bilateral pelvic lymph nodes dissection and bilateral salpingo-oophorectomy. The vaginectomy specimen showed residual adenocarcinoma associated with VAIN-III and extensive vaginal adenosis with free resection margins. This is the second reported case in the literature of adenocarcinoma arising in vaginal adenosis after 5-fluorouracil. Herein, we highlight these important findings and shed some light on the pathogenesis of vaginal adenosis and the subsequent development of vaginal adenocarcinoma. PMID:20173507

  11. Multi-voxel pattern analysis (MVPA) reveals abnormal fMRI activity in both the “core” and “extended” face network in congenital prosopagnosia

    PubMed Central

    Rivolta, Davide; Woolgar, Alexandra; Palermo, Romina; Butko, Marina; Schmalzl, Laura; Williams, Mark A.

    2014-01-01

    The ability to identify faces is mediated by a network of cortical and subcortical brain regions in humans. It is still a matter of debate which regions represent the functional substrate of congenital prosopagnosia (CP), a condition characterized by a lifelong impairment in face recognition, and affecting around 2.5% of the general population. Here, we used functional Magnetic Resonance Imaging (fMRI) to measure neural responses to faces, objects, bodies, and body-parts in a group of seven CPs and ten healthy control participants. Using multi-voxel pattern analysis (MVPA) of the fMRI data we demonstrate that neural activity within the “core” (i.e., occipital face area and fusiform face area) and “extended” (i.e., anterior temporal cortex) face regions in CPs showed reduced discriminability between faces and objects. Reduced differentiation between faces and objects in CP was also seen in the right parahippocampal cortex. In contrast, discriminability between faces and bodies/body-parts and objects and bodies/body-parts across the ventral visual system was typical in CPs. In addition to MVPA analysis, we also ran traditional mass-univariate analysis, which failed to show any group differences in face and object discriminability. In sum, these findings demonstrate (i) face-object representations impairments in CP which encompass both the “core” and “extended” face regions, and (ii) superior power of MVPA in detecting group differences. PMID:25431556

  12. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

  13. [Morcellement in vaginal hysterectomy].

    PubMed

    Draca, P; Miljković, S

    1976-01-01

    From 1968 to 1975 the authors performed 632 vaginal histerectomies; morcellement was applied in 81 patients (12.81%). The largest uterus subjected to morcellement weighed 700 g; most of them weighed about 250 g. In all cases morcellement was applied due to the enlarged uterus. In the authors opinion, the uterus can be extirpated vaginally until it reaches the size corresponding to pregnancy up to 12 weeks. The postoperative morbidity rate in patients with vaginal histerectomy and morcellement proved to be 30.56%. Morcellement doest not increase the occurrence of intraoperative injuries of the neighbouring organs or early postoperative morbidity.

  14. X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.

    PubMed

    Askanas, V; Engel, W K; Reddy, N B; Barth, P G; Bethlem, J; Krauss, D R; Hibberd, M E; Lawrence, J V; Carter, L S

    1979-10-01

    Muscle cells in cultures established from biopsy specimens of two children with an infantile-fatal form of X-linked recessive muscle fiber smallness with central nuclei showed an unusual ability to proliferate through numerous passages. Ultrastructurally, the cultured muscle fibers appeared very immature even after several weeks. The nuclei were large, the number of ribosomes was greatly increased, the myofibrils remained unstriated, and glycogen was accumulated in large lakes. The plasmalemma bound concanavalin A, alpha-bungarotoxin, and ruthenium red normally, but with tannic acid it did not show the dark binding of mature fibers. Biochemically, in the cultured muscle fibers, beta-adrenergic receptors were quantitatively normal. The level of adenylate cyclase in membranes was less than in cultured normal muscle; this defect could be responsible for impaired control mechanisms resulting in the other abnormalities observed.

  15. Vaginal bleeding between periods

    MedlinePlus

    ... caused by intercourse, trauma, infection, polyp, genital warts , ulcer, or varicose veins) IUD use (may cause occasional spotting) Ectopic pregnancy Miscarriage Other pregnancy complications Vaginal dryness due to lack of estrogen after ...

  16. Review of Vaginitis

    PubMed Central

    1993-01-01

    Adisruption of the dynamic equilibrium of the healthy vagina may have significant sequelae, leading to chronic or serious conditions. Therefore, all cases of vaginitis should be accurately diagnosed and appropriately treated. PMID:18475337

  17. Vaginitis - self-care

    MedlinePlus

    Vulvovaginitis - self-care; Yeast infections - vaginitis ... Creams or suppositories are used to treat yeast infections in the vagina. You can buy most of them without a prescription at drug stores, some grocery stores, and other stores. Treating yourself ...

  18. Vaginal gene therapy.

    PubMed

    Rodríguez-Gascón, Alicia; Del Pozo-Rodríguez, Ana; Isla, Arantxazu; Solinís, María Angeles

    2015-09-15

    In the last years, vaginal gene therapy has gained increasing attention mainly for the treatment and control of sexually transmitted infections. DNA delivery has been also suggested to improve reproductive outcomes for women with deficiencies in the female reproductive tract. Although no product has reached clinical phase, preclinical investigations reveal the potential of the vaginal tract as an effective administration route for gene delivery. This review focuses on the main advantages and challenges of vaginal gene therapy, and on the most used nucleic acid delivery systems, including viral and non-viral vectors. Additionally, the advances in the application of vaginal gene therapy for the treatment and/or prevention of infectious diseases such as the human immunodeficiency virus (HIV), the human papillomavirus (HPV) or the herpes simplex virus (HSV) are presented.

  19. 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. PMID:27451320

  20. 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.

  1. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  2. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed. PMID:27607320

  3. [Vaginal ulceration induced by abuse of tampons].

    PubMed

    Raudrant, D; de Haas, P; Saintfort, P

    1987-01-01

    A large vaginal ulcerated area which came about because super-absorbant tampons had been worn for three years is reported. Cure was obtained when the area was excised and sutured. There was no recurrence after the patient stopped using the tampons. There are 36 cases reported in the literature. Ulceration occurs in young women (25 years), nulliparous or primiparous (79%), who use tampons abnormally during the periods and between the periods (75%). The ulceration is always characteristic in appearance: it is a punched-out area, round or oval in shape, and is situated in the upper third of the vaginal barrel near where the tampon presses on to the vagina. Spontaneous cure occurs in 75% of cases when the tampon is no longer used. Physio-pathological hypotheses as to the causation are given. A suggestion is made as to the relationship between this syndrome and the staphylococcal toxic shock syndrome. The discovery of vaginal ulceration is not usually due to use of menstrual tampons. One has to think of adenosis of the vagina, herpetic ulceration, a syphilitic chancre or cancer, the diagnosis depending a little on the age of the patient. In our case that we report, continuous usage of super-absorbant tampons was accompanied by a large vaginal ulcer. Because of this case we have reviewed the literature about the cases that have been reported and have collected 36 cases.

  4. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  5. Genetics Home Reference: congenital generalized lipodystrophy

    MedlinePlus

    ... an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive ... stenosis), and severe arrhythmia that can lead to sudden death. Related Information What does it mean if a ...

  6. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality ... cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to ...

  7. General Information about Vaginal Cancer

    MedlinePlus

    ... Research Vaginal Cancer Treatment (PDQ®)–Patient Version General Information About Vaginal Cancer Go to Health Professional Version ... the PDQ Adult Treatment Editorial Board . Clinical Trial Information A clinical trial is a study to answer ...

  8. Vaginal Yeast Infections (For Parents)

    MedlinePlus

    ... Can I Help a Friend Who Cuts? Vaginal Yeast Infections KidsHealth > For Teens > Vaginal Yeast Infections Print ... side effect of taking antibiotics. What Is a Yeast Infection? A yeast infection is a common infection ...

  9. Vaginal itching and discharge - child

    MedlinePlus

    ... vulvae; Itching - vaginal area; Vulvar itching; Yeast infection - child ... To prevent and treat vaginal irritation, your child should: Avoid colored or perfumed toilet tissue and bubble bath. Use plain, unscented soap. Limit bath time to 15 minutes or less. Ask ...

  10. Vaginal infections, cervical ripening and preterm delivery.

    PubMed

    Chambers, S; Pons, J C; Richard, A; Chiesa, M; Bouyer, J; Papiernik, E

    1991-01-30

    A prospective study is presented which addresses the relative effect of cervicovaginal infection and precocious maturation of the uterine cervix on preterm delivery. From April 1981 through December 1983, a total of 5758 pregnant women were checked by means of a vaginal examination at every prenatal visit and a research for bacterial cervicovaginal infection whenever abnormal signs were observed. The study reveals that vaginal infection has no measurable effect when observed during the second trimester of pregnancy, and a small effect during the third trimester. This means that infection of the vagina or/and the cervix may be demonstrated as a risk factor only when the cervix is short before 28 weeks or open before 37 weeks. PMID:1995377

  11. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  12. Low-set ears and pinna abnormalities

    MedlinePlus

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... The outer ear or "pinna" forms when the baby is growing in the mother's womb. The growth of this ear part ...

  13. 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.

  14. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  15. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  16. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  17. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  18. Congenital hemifacial hyperplasia

    PubMed Central

    Deshingkar, S. A.; Barpande, S. R.; Bhavthankar, J. D.

    2011-01-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  19. Vaginal leiomyoma in pregnancy presenting as a prolapsed vaginal mass.

    PubMed

    Dane, Cem; Rustemoglu, Yaprak; Kiray, Murat; Ozkuvanci, Unsal; Tatar, Zeynep; Dane, Banu

    2012-12-01

    Vaginal leiomyomas are rare benign solid tumours of the vagina. They can cause mechanical dystocia, which is a common problem in obstetrics leading to serious maternal and perinatal complications. Here we describe a patient with a vaginal leiomyoma diagnosed during the mid-trimester that could have caused dystocia. This 22-year-old woman presented with a vaginal mass and leaking vaginal fluid during pregnancy. On examination, a prolapsed, pedunculated mass, measuring 5 × 3 × 4 cm was detected in the anterior vaginal wall. Via a midline incision, the mass was easily enucleated and removed. Transvaginal surgical enucleation of the vaginal leiomyoma is usually curative and recommended as the initial treatment of choice to prevent for dystocia. Such treatment is indicated when the tumour is a potential obstacle to normal labour.

  20. Stubborn vaginal yeast infections.

    PubMed

    1994-01-01

    Fungi, which along with plants and animals comprise a distinct group in the classification of living things, break down and recycle organic matter. One sub-group with over 600 varieties consists of microscopic, single-celled yeasts. Of the genus Candida, the species Candida albicans accounts for 94% of all cases of fungal vaginitis. Yeasts thrive in human bodies as either beneficial or pathogenic agents. Even when they are an innocuous presence in a healthy human body, they are always poised to create opportunistic infections in susceptible individuals. Candida has been known to infect every organ of the body, but its ability to cause infection depends upon the presence of a sufficient amount of fungal organisms or generally reduced resistance or both. Often use of modern medical drugs such as oral contraceptives, antibiotics, or immunosuppressant drugs can trigger an infection. The symptoms of vaginal infection are vaginal itching, inflammation, and swelling; a burning sensation; and a white, cheesy discharge. Yeast infections can occur in females of all ages (although they are most common in women of child-bearing age) and prompt a large percentage of trips to the gynecologist. Recurrence is common, and each occurrence is harder to eradicate. Often frustrated women turn to alternative therapies. Successful treatment depends upon reducing the yeast population in the body, building up the beneficial bacteria population, limiting and controlling yeast triggers, and strengthening overall health. PMID:12318962

  1. Prenatal imaging of distal limb abnormalities using OCT in mice

    NASA Astrophysics Data System (ADS)

    Larina, Irina V.; Syed, Saba H.; Dickinson, Mary E.; Overbeek, Paul; Larin, Kirill V.

    2012-01-01

    Congenital abnormalities of the limbs are common birth defects. These include missing or extra fingers or toes, abnormal limb length, and abnormalities in patterning of bones, cartilage or muscles. Optical Coherence Tomography (OCT) is a 3-D imaging modality, which can produce high-resolution (~8 μm) images of developing embryos with an imaging depth of a few millimeters. Here we demonstrate the capability of OCT to perform 3D imaging of limb development in normal embryos and a mouse model with congenital abnormalities. Our results suggest that OCT is a promising tool to analyze embryonic limb development in mammalian models of congenital defects.

  2. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  3. 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

  4. Leukocyte Esterase Activity in Vaginal Fluid of Pregnant and Non-Pregnant Women With Vaginitis/Vaginosis and in Controls

    PubMed Central

    Novikova, Natalia; Niklasson, Ola; Bekassy, Zoltan; Skude, Lennart

    2003-01-01

    Objectives: To determine the leukocyte esterase (LE) activity in vaginal lavage fluid of women with acute and recurrent vulvovaginal candidosis (VVC and RVVC respectively), bacterial vaginosis (BV), and in pregnant and non-pregnant women without evidence of the three conditions. Also to compare the result of LE tests in women consulting at different weeks in the cycle and trimesters of pregnancy.The LE activity was correlated to vaginal pH, number of inflammatory cells in stained vaginal smears, type of predominating vaginal bacteria and presence of yeast morphotypes. Methods: One hundred and thirteen women with a history of RVVC, i.e. with at least four attacks of the condition during the previous year and who had consulted with an assumed new attack of the condition, were studied. Furthermore, we studied 16 women with VVC, 15 women with BV, and 27 women attending for control of cytological abnormalities, who all presented without evidence of either vaginitis or vaginosis. Finally, 73 pregnant women were investigated. The LE activity in vaginal fluid during different weeks in the cycle of 53 of the women was measured. Results: In the non-pregnant women, an increased LE activity was found in 96, 88, 73 and 56% of those with RVVC, VVC and BV and in the non-VVC/BV cases, respectively. In 73% of pregnant women in the second trimester, and 76% of those in the third, the LE test was positive. In all groups of non-pregnant women tested, the LE activity correlated with the number of leukocytes in vaginal smears, but it did not in those who were pregnant. There was no correlation between LE activity and week in cycle. The vaginal pH showed no correlation to LE activity in any of the groups studied. Conclusions: The use of commercial LE dipsticks has a limited value in the differential diagnosis of RVVC, VVCand BV. There is no correlation between the LE activity in vaginal secretion on one hand and vaginal pH, week in the menstrual cycle and trimester in pregnancy on the

  5. Stages of Vaginal Cancer

    MedlinePlus

    ... and vagina. The cells are viewed under a microscope to find out if they are abnormal. This ... the cervix. The cells are checked under a microscope for signs of disease. Colposcopy : A procedure in ...

  6. Idiopathic congenital chylothorax treated with octreotide

    PubMed Central

    Sousa, Paulo Rego; Leitão, Henrique; Camacho, Maria Carmo; Nunes, José Luis

    2010-01-01

    Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery. We report a case of idiopathic congenital chylothorax treated with octreotide (a somatostatin analogue), avoiding surgery after failed conservative medical treatment. The patient promptly improved after initiation of endovenous octreotide treatment (10 µg/kg/h) with no observed side effects. PMID:22750919

  7. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  8. Vaginal Absorption of Penicillin.

    PubMed

    Rock, J; Barker, R H; Bacon, W B

    1947-01-01

    Except during the last two months of pregnancy, penicillin is easily absorbed from cocoa butter suppositories in the vagina, ordinarily to give therapeutic blood levels for from 4 to 6 hours. Penicillin in the dosage used seems to have a good effect on vaginal infections. In nonpregnant women, during the ovulation phase, considered as including days 14 +/- 2 in the ordinary menstrual cycle of about 28 days, absorption seemed to be somewhat diminished. Higher levels were found in patients who were near the end of their menstrual cycles and in two patients who were menopausal. Patients who were very near term absorbed little or no penicillin, whereas patients 10 days post partum showed excellent absorption.

  9. Index finger abnormalities in Simpson-Golabi-Behmel syndrome.

    PubMed

    Day, Ruth; Fryer, Alan

    2005-01-01

    Simpson-Golabi-Behmel syndrome (SGBS) is an X linked recessive overgrowth disorder in which digital abnormalities are a well-described aspect of the phenotype. We report a case with marked index finger hypoplasia and a congenital abnormality of the proximal phalanx and review the literature detailing index finger abnormalities in this condition.

  10. Vaginal or uterine bleeding - overview

    MedlinePlus

    Vaginal bleeding normally occurs during a woman's menstrual cycle, when she gets her period. Every woman's period is different. Most women have cycles between 24 and 34 days apart. It usually lasts ...

  11. HIV and the vaginal ecosystem.

    PubMed

    Denenberg, R

    1997-01-01

    Vaginal health is related to the risk of acquiring or transmitting HIV and other STDs. Significant factors in that risk analysis include pH level, local immune factors, hormone levels, menstrual cycle, sexual maturity, the use of contraceptives, douching, and sexual practices. The vagina, if healthy, has a number of natural protections against HIV and STDs. Inflammation can contribute to increased disease susceptibility, and can be caused either by organisms or mechanical trauma. High levels of HIV in vaginal secretions are directly associated with high plasma levels, and there is some correlation to cervicovaginal secretions levels as well. Vaginal health can be enhanced by self-inspection, gynecological care, and prompt treatment of infections. A table details comfort measures for vaginal conditions.

  12. Can Vaginal Cancer Be Prevented?

    MedlinePlus

    ... can be spread during sex – including vaginal intercourse, anal intercourse, and oral sex – but sex doesn’t ... not letting others come in contact with your anal or genital area, but even then there could ...

  13. Drugs Approved for Vaginal Cancer

    Cancer.gov

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) to prevent vaginal cancer. The list includes generic names and brand names. The drug names link to NCI’s Cancer Drug Information summaries.

  14. Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

    PubMed

    Drachtman, R; Weinblatt, M; Sitarz, A; Gold, A; Kochen, J

    1990-10-01

    Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions. PMID:2264478

  15. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  16. Breast metastasis from vaginal cancer.

    PubMed

    Chandrasekaran, Neeraja; Scharifker, Daniel; Varsegi, George; Almeida, Zoyla

    2016-07-21

    Vaginal cancer is a rare malignancy accounting for 1-2% of all pelvic neoplasms. Dissemination usually occurs through local invasion and rarely metastasises to distal locations. Metastasis of vaginal cancer to the breast is extremely infrequent and unique. A 66-year-old Asian woman presented with vaginal bleeding and was found to have a vaginal mass and a left breast mass. Pathological assessment of the biopsies revealed identical squamous cell characteristics of both masses. We describe a very rare and novel case of a distally located vaginal carcinoma with metastasis to the breast Federation of Gynecology and Obstetrics (FIGO) stage IV (FIGO IVB). Robot-assisted extrafascial total hysterectomy with local vaginal mass excision and partial mastectomy of the left breast were performed. After surgery, the patient underwent adjuvant chemotherapy followed by breast and pelvic radiotherapy, with maintained complete remission after 3 years of follow-up. This combination of findings and treatment is very distinct with a unique and favourable response.

  17. Breast metastasis from vaginal cancer.

    PubMed

    Chandrasekaran, Neeraja; Scharifker, Daniel; Varsegi, George; Almeida, Zoyla

    2016-01-01

    Vaginal cancer is a rare malignancy accounting for 1-2% of all pelvic neoplasms. Dissemination usually occurs through local invasion and rarely metastasises to distal locations. Metastasis of vaginal cancer to the breast is extremely infrequent and unique. A 66-year-old Asian woman presented with vaginal bleeding and was found to have a vaginal mass and a left breast mass. Pathological assessment of the biopsies revealed identical squamous cell characteristics of both masses. We describe a very rare and novel case of a distally located vaginal carcinoma with metastasis to the breast Federation of Gynecology and Obstetrics (FIGO) stage IV (FIGO IVB). Robot-assisted extrafascial total hysterectomy with local vaginal mass excision and partial mastectomy of the left breast were performed. After surgery, the patient underwent adjuvant chemotherapy followed by breast and pelvic radiotherapy, with maintained complete remission after 3 years of follow-up. This combination of findings and treatment is very distinct with a unique and favourable response. PMID:27444140

  18. Imaging diagnosis of congenital uterine malformation.

    PubMed

    Pui, Margaret H

    2004-10-01

    Congenital anomaly of the female reproductive system is associated with higher rate of infertility, spontaneous abortion, intrauterine growth retardation, premature birth and postpartum bleed. Because of the variable clinical pictures of obstruction of menstrual flow in adolescence to hypomenorrhea, vaginal discharge, dyspareunia, and fertility problems in adult life, early and accurate diagnosis is difficult. Complete uterine and vaginal septum can be easily confused with uterus didelphys. Management of these two müllerian duct anomalies is different. With improved treatment methods for complete relief of symptoms and prevention of further sequelae, comprehensive evaluation is important to identify the underlying problem and formulate appropriate therapeutic plan. The embryology, classification, and clinical presentation of uterine malformation, advantages and limitations of diagnostic methods including hysterosalpingogram, ultrasound, magnetic resonance imaging, laparoscopy, and hysteroscopy are discussed. The imaging features of different types of uterine anomalies are illustrated.

  19. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  20. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  1. Meiotic abnormalities

    SciTech Connect

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  2. Reconstruction of Congenital Defects of the Vagina

    PubMed Central

    Eldor, Liron; Friedman, Jeffrey D.

    2011-01-01

    Congenital absence of the vagina is a relatively rare condition most commonly associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Historically, several reconstructive techniques have been described to provide for functional vaginal reconstruction on these patients, both operative and nonoperative. Although there are many advantages and disadvantages of the various procedures, one experience with the use of split thickness skin grafts to reconstruct the vagina has produced acceptable functional results with limited donor site morbidity. Careful planning and timing of this form of reconstruction can produce predictable results in patients who are nearing sexual maturity. PMID:22547971

  3. Respiratory distress of the newborn: congenital laryngeal atresia.

    PubMed

    Ambrosio, Art; Magit, Anthony

    2012-11-01

    Congenital laryngeal atresia is a rare cause of respiratory distress of the newborn. The defect may be isolated or occur in association with other congenital abnormalities, notably the presence of a tracheoesophageal fistula, esophageal atresia, encephalocele, or Congenital High Airway Obstructive Syndrome (CHAOS). We present the case of a newborn with no identified intrapartum abnormalities with respiratory distress at birth secondary to near-complete laryngeal atresia. Management included tracheostomy, repeated endoscopic incisions, and serial balloon dilatations employing the topical use of Mitomycin C. Seven year follow-up was significant for mobilization of the true vocal cords bilaterally, as well as successful decannulation.

  4. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  5. [Congenital heart diseases in clinical practice].

    PubMed

    Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno

    2012-05-01

    Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.

  6. Congenital cystic choristoma mimicking cervical lymphangioma.

    PubMed

    Moon, Suk-Bae; Park, Kwi-Won; Yun, Woong-Jae; Patten, Phillip P; Jung, Sung-Eun

    2008-09-01

    Choristoma is a tissue or mass with a normal histology at an abnormal location, and cystic choristoma has rarely been reported in the head and neck region. Cervical cystic masses in neonates are usually diagnosed as cystic lymphangioma. The authors present a case of a congenital laterocervical cystic mass that appeared to be lymphangioma, but which turned out to be a cystic choristoma.

  7. [Multipurpose treatment of vaginal infections].

    PubMed

    Nikolov, A; Masseva, A; Shopova, E; Georgiev, S

    2012-01-01

    Untreated bacterial vaginosis is related with many complications for non-pregnant women in reproductive age, most common from them are vaginal discharge and postoperative infections. The aim of our investigation was to compare the effectiveness of two therapeutic regimes which consist in Macmiror/Macmiror Complex alone and in combination with Feminella Vagi C for treatment of bacterial vaginosis (BV) and/or mycotic infection. 117 non-pregnant women with symptoms of vaginal infection were prospectively enrolled into two groups according their treatment. First group consist 66 women treated with Macmiror tablets and vaginal capsules followed with local application of Feminella Vagi C, the second group consist 54 women treated with Macmiror tablets and vaginal capsules only. The impact of treatment on clinical symptoms was observed at the end of medication and 20 days after it. Microbiological testing was repeated 20 days after treatment. Over than 80% (78.6 divided by 86.7%) of the cases with vaginal infection (BV and mycotic one) were successfully treated with Macmiror/Macmiror Complex. Supplement treatment with Feminella Vagi C lead to higher percentage of clinically recovery (86.7% vs 84.6%), better microbiological cleaning (86.7% vs 82.1%) and longer effect of treatment. Used medication showed higher efficacy against BV than to fungal infection. According obtained results we may conclude that bacterial vaginosis was better treated with multipurpose treatment (Nifuratel, Nistatin and vit. C) than with Macmiror alone. PMID:23234030

  8. 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. PMID:25396021

  9. Craniofacial Abnormalities

    MedlinePlus

    ... of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ... palate, are among the most common of all birth defects. Others are very rare. Most of them affect ...

  10. Chromosome Abnormalities

    MedlinePlus

    ... decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. These newer methods compare the patient's DNA to a normal DNA ...

  11. Walking abnormalities

    MedlinePlus

    ... include: Arthritis of the leg or foot joints Conversion disorder (a psychological disorder) Foot problems (such as a ... injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are strongly ...

  12. Nail abnormalities

    MedlinePlus

    Beau's lines; Fingernail abnormalities; Spoon nails; Onycholysis; Leukonychia; Koilonychia; Brittle nails ... Just like the skin, the fingernails tell a lot about your health: ... the fingernail. These lines can occur after illness, injury to ...

  13. 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

  14. Vaginal itching and discharge - adult and adolescent

    MedlinePlus

    ... vaginal dryness and other symptoms ( atrophic vaginitis ). Forgotten tampon or foreign body, which may cause a foul ... in the genital area. Use pads and not tampons while you have an infection. If you have ...

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

    PubMed Central

    2012-01-01

    Background 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. Case presentation 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. Conclusions 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. PMID:22731118

  16. 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

  17. Vaginal radical trachelectomy: an update.

    PubMed

    Plante, Marie

    2008-11-01

    The vaginal radical trachelectomy has emerged as a valuable fertility-preserving treatment option for young women with early-stage disease. Cancer-related infertility is associated with feelings of depression, grief, stress, and sexual dysfunction. Data have shown that the overall oncological outcome is safe and that the obstetrical outcome is promising. In this article, we analyze the data on the vaginal radical trachelectomy published over the last 10 years in the context of what we have learned, what issues remain unclear, and what the future holds.

  18. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  19. Normalisation of a severely abnormal ductus venosus Doppler flow velocity waveform in a growth-retarded fetus with absent end-diastolic flow in the umbilical artery and congenital anomalies.

    PubMed

    Müller, T; Rehn, M; Girschick, G; Kristen, P; Dietl, J

    2001-01-01

    Doppler recordings of fetal venous blood flow seem to be superior to arterial velocimetry and CTG concerning the prediction of fetal outcome and optimal time of delivery in pregnancies with fetal growth retardation and AREDV. An improvement of arterial Doppler flow velocities has been described. We report the reappearance of a normal end-diastolic flow velocity in a ductus venosus temporarily showing reversed end-diastolic flow in a growth-retarded fetus with congenital anomalies. This normalization was accompanied by an improvement of the CTG, a loss of umbilical vein pulsations, a reappearance of umbilical diastolic flow and a progressive return of cerebral and venous blood flow into the 'normal' range. Improvement of fetal condition may be the explanation for our observation.

  20. Two Cases of Malleostapedotomy in Congenital Oval Window Atresia

    PubMed Central

    Ahn, Sang Hyeon; Kim, Da Hee; Choi, Jae Young

    2013-01-01

    Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. However, surgery for congenital anomalies of the oval window has rarely been described, usually in very small series of patients. We describe two cases of congenital anomalies of the oval window with aberrant facial nerve courses. One was a 40-year-old male diagnosed with unilateral congenital oval window atresia; the other was a 10-year-old male diagnosed with bilateral congenital oval window atresia. We also describe the clinical manifestations and treatment outcomes of malleostapedotomy for congenital anomalies of the oval window with aberrant facial nerve courses. PMID:24653925

  1. [Natural remedies for vaginal infections].

    PubMed

    Genet, J

    1995-01-01

    Vaginal infections, affecting half of all women, are more severe in women with AIDS. The infection vulva vaginitis, caused by candida, may require medical attention. The doctor performs a pelvic exam and examines vaginal fluids under a microscope. Antibiotics, diet, or a suppressed immune system can increase candida yeast presence. Sweets should be avoided, as well as foods high in leavening, such as bread, cheese, fruit, or alcoholic beverages. Vegetables, grains, rice and wheat can be added to the diet. Eating a half-cup of yogurt daily will help maintain a proper level of yeast. Acidophilus capsules can be taken two or three times daily to relieve digestive problems. Raw or cooked garlic can be used as a vaginal suppository at night. Pau D'arco, the bark of a South American tree, is also anti-yeast. Boil for ten to twenty minutes, and take a teaspoon two or three times a day. Tea, or vinegar and water, can be used as a douche. Some women get relief by adding a half-cup of white vinegar to their bath. Do not wash genitals with soap and do not use sanitary napkins or tampons. Visit a doctor if the condition persists.

  2. Common vaginal and vulvar disorders.

    PubMed

    Prabhu, Andrea; Gardella, Carolyn

    2015-05-01

    Vaginal and vulvar disorders are among the leading causes for women to visit a health care professional. Therefore, it is important to have a basic understanding of these diseases. Although rarely life threatening, these disorders can impact significantly a woman's sexual function and sense of well-being.

  3. Current Concepts of Treating Vaginitis

    PubMed Central

    Robinson, Theresa

    1977-01-01

    Vaginitis can be a frustrating entity to treat, since the incidence of recurrence is high. This paper examines evidence from the literature concerning diagnosis and treatment of Candida albicans, Trichomonas vaginalis, Corynebacterium vaginale, herpes simplex type 2 and gonorrhea. A protocol based on these readings is outlined. PMID:21304797

  4. [Natural remedies for vaginal infections].

    PubMed

    Genet, J

    1995-01-01

    Vaginal infections, affecting half of all women, are more severe in women with AIDS. The infection vulva vaginitis, caused by candida, may require medical attention. The doctor performs a pelvic exam and examines vaginal fluids under a microscope. Antibiotics, diet, or a suppressed immune system can increase candida yeast presence. Sweets should be avoided, as well as foods high in leavening, such as bread, cheese, fruit, or alcoholic beverages. Vegetables, grains, rice and wheat can be added to the diet. Eating a half-cup of yogurt daily will help maintain a proper level of yeast. Acidophilus capsules can be taken two or three times daily to relieve digestive problems. Raw or cooked garlic can be used as a vaginal suppository at night. Pau D'arco, the bark of a South American tree, is also anti-yeast. Boil for ten to twenty minutes, and take a teaspoon two or three times a day. Tea, or vinegar and water, can be used as a douche. Some women get relief by adding a half-cup of white vinegar to their bath. Do not wash genitals with soap and do not use sanitary napkins or tampons. Visit a doctor if the condition persists. PMID:11362438

  5. [Resorption of drugs through the vaginal wall].

    PubMed

    Bourin, M; Guenzet, J; Pradal, G

    1983-01-01

    Drug absorption during vaginal administration. A method is described (systems approach to vaginal delivery of drugs and development of in situ vaginal drug absorption procedure) and is able to show vaginal absorption of drugs. Some drugs are rapidly and largely absorbed through vaginal epithelium: Metronidazole (Flagyl), Prostaglandins, Estrogens, Polyvidone-iodine (Betadine), Chloroquinadol (Gynotherax), d-Methadone, Hexachlorophene (Phisohex et Ultralan), Insulin and Triclosan. Other drugs are poorly absorbed: Amphotericin B (Fungizone, Amphocycline), Econazole (Pevaryl) and Trimethoprim. At least, some drugs are not absorbed: Nystatine (Mycostatine) and Furazolidone (Tricofuron).

  6. Isolated Vaginal Agenesis Associated with Multiple Gastrointestinal Anomalies: A Case Report.

    PubMed

    Angotti, R; Molinaro, F; Bulotta, A L; Ferrara, F; Sica, M; Bindi, E; Messina, M

    2016-01-01

    More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature. PMID:27433450

  7. Isolated Vaginal Agenesis Associated with Multiple Gastrointestinal Anomalies: A Case Report

    PubMed Central

    Angotti, R; Molinaro, F; Bulotta, AL; Ferrara, F; Sica, M; Bindi, E; Messina, M

    2016-01-01

    More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature. PMID:27433450

  8. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  9. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  10. Stomatocytosis, abnormal platelets and pseudo-homozygous hypercholesterolaemia.

    PubMed

    Stewart, G W; O'Brien, H; Morris, S A; Owen, J S; Lloyd, J K; Ames, J A

    1987-04-01

    A 13-yr-old girl with congenital haemolytic anaemia associated with pseudo-homozygous hypercholesterolaemia is described. The erythrocyte morphology showed 50-80% stomatocytes, but no abnormality of membrane lipid or protein composition or of cation transport was detected. The platelets were reduced in number, abnormally large and showed reduced adhesion. Successful treatment of the hypercholesterolaemia did not influence the stomatocytosis.

  11. 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

  12. Antigonococcal effects of vaginal tampons.

    PubMed

    Arko, R J; Wong, K H; Smith, S J; Finley-Price, K G

    1983-04-01

    Different brands of vaginal tampons varied significantly (p less than 0.0001) in their anti-bacterial effects when tested with 46 strains of Neisseria gonorrhoeae. Gonococcal strains recovered from patients with disseminated infections were substantially more sensitive to the anti-bacterial effects of tampons than were strains from patients with uncomplicated genital infections. Strains from patients with pelvic inflammatory disease were moderately sensitive. Tampons showing strong in-vitro antigonococcal effects were also generally effective in vivo in eliminating gonococcal infections from subcutaneous chambers in mice. Extracts of the Rely tampon showed no in-vitro antigonococcal effect, however, but did induce antibacterial activity when injected into subcutaneous chambers in mice. These results emphasise the importance of both in-vitro as well as in-vivo testing of tampon materials to elucidate more fully the nature of their antibacterial effects and their potential for affecting vaginal pathogens and disease processes.

  13. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  14. Vaginal birth after cesarean delivery.

    PubMed

    Martins, M E

    1996-03-01

    The rate of vaginal birth after a previous cesarean delivery continues to rise due to both national organization recommendations and trials spanning 10 years of experience demonstrating its effectiveness and general safety. Broadening eligibility criteria and investigation of the clinical and nonclinical factors influencing this rate should place us on the glide path to reduction of the overall cesarean rate by the year 2000. Remaining controversies and management strategy will be discussed.

  15. Congenital errors of folate metabolism.

    PubMed

    Zittoun, J

    1995-09-01

    Congenital errors of folate metabolism can be related either to defective transport of folate through various cells or to defective intracellular utilization of folate due to some enzyme deficiencies. Defective transport of folate across the intestine and the blood-brain barrier was reported in the condition 'Congenital Malabsorption of Folate'. This disease is characterized by a severe megaloblastic anaemia of early appearance associated with mental retardation. Anaemia is folate-responsive, but neurological symptoms are only poorly improved because of the inability to maintain adequate levels of folate in the CSF. A familial defect of cellular uptake was described in a family with a high frequency of aplastic anaemia or leukaemia. An isolated defect in folate transport into CSF was identified in a patient suffering from a cerebellar syndrome and pyramidal tract dysfunction. Among enzyme deficiencies, some are well documented, others still putative. Methylenetetrahydrofolate reductase deficiency is the most common. The main clinical findings are neurological signs (mental retardation, seizures, rarely schizophrenic syndromes) or vascular disease, without any haematological abnormality. Low levels of folate in serum, red blood cells and CSF associated with homocystinuria are constant. Methionine synthase deficiency is characterized by a megaloblastic anaemia occurring early in life that is more or less folate-responsive and associated with mental retardation. Glutamate formiminotransferase-cyclodeaminase deficiency is responsible for massive excretion of formiminoglutamic acid but megaloblastic anaemia is not constant. The clinical findings are a more or less severe mental or physical retardation. Dihydrofolate reductase deficiency was reported in three children presenting with a megaloblastic anaemia a few days or weeks after birth, which responded to folinic acid. The possible relationship between congenital disorders such as neural tube defects or

  16. The effect of vitamin D on vaginal atrophy in postmenopausal women

    PubMed Central

    Rad, Parastou; Tadayon, Mitra; Abbaspour, Mohammadreza; Latifi, Seyed Mahmood; Rashidi, Iran; Delaviz, Hamdollah

    2015-01-01

    Background: Most of the women suffer from vaginal atrophy and dryness, and therefore, efficient and safe treatment is needed to improve vaginal lubrication. Vitamin D has several important functions which may be effective in proliferation and repair of the epithelial tissue. This study aimed to evaluate the effect of vitamin D vaginal suppositories on maturation index, pH, and dryness in postmenopausal women. Materials and Methods: Women were enrolled in this double-blind clinical trial, in whom menopause occurred at least one year ago. Those women who had an abnormal Papanicolaou smear, had undergone hormonal treatment, or have had vaginal infection in the previous year were excluded. Forty-four women who found eligible were randomized into two equal groups, the treatment and control groups, which received vitamin D and placebo vaginal suppository daily for 8 weeks, respectively. Vaginal pH and maturation value were measured at the beginning and end of the study. Pain, dryness, and paleness were assessed before treatment and at the end of the 2, 4, and 8 weeks of treatment. Results: In the treatment group, the number (Mean ± SD) of superficial cells increased (69.76 ± 12.4) and vaginal pH decreased (1.42 ± 0.67) significantly compared to the control group after 56 days. The mean pain significantly reduced after 8 weeks in the treatment group (1.23 ± 0.53) compared to the control group 1.95 ± 0.74 (P < 0.001). The mean of dryness and paleness reduced significantly in the treatment group versus control at 56 days. Conclusions: Vitamin D is effective in improving the maturation index and decreased the pH and dryness of the vaginal atrophy due to menopause. PMID:25878698

  17. Antifungal resistance in yeast vaginitis.

    PubMed Central

    Dun, E.

    1999-01-01

    The increased number of vaginal yeast infections in the past few years has been a disturbing trend, and the scientific community has been searching for its etiology. Several theories have been put forth to explain the apparent increase. First, the recent widespread availability of low-dosage, azole-based over-the-counter antifungal medications for vaginal yeast infections encourages women to self-diagnose and treat, and women may be misdiagnosing themselves. Their vaginitis may be caused by bacteria, parasites or may be a symptom of another underlying health condition. As a result, they may be unnecessarily and chronically expose themselves to antifungal medications and encourage fungal resistance. Second, medical technology has increased the life span of seriously immune compromised individuals, yet these individuals are frequently plagued by opportunistic fungal infections. Long-term and intense azole-based antifungal treatment has been linked to an increase in resistant Candida and non-Candida species. Thus, the future of limiting antifungal resistance lies in identifying the factors promoting resistance and implementing policies to prevent it. PMID:10907778

  18. Vaginal cancer: an iatrogenic disease?

    PubMed

    Weiss, K

    1975-01-01

    Presently we are witnessing two unique occurrences in the field of public health: the first demonstration of transplacental carcinogenesis in humans and the first drug-induced cancer epidemic in women under age 30. This article examines the current status of the vaginal cancer epidemic and possible reasons for the failure of governmental health agencies to recall and test the generation of females who were exposed to diethylstilbestrol (DES) in utero. Epidemiologic evidence indicates that the large majority of "DES daughters" may develop adenosis. The carcinogenicity of other estrogens in wide use is examined. It is pointed out that, although vaginal cancer in daughters exposed to DES in utero provided the clinical evidence to secure a Food and Drug Administration ban on DES as an additive to cattle feed, the FDA approved a new use of DES as a "morning-after pill" contraceptive even though the contraceptive contains 833,000 times the amount of DES banned for human consumption in beef. The lack of standards of informed consent in the testing of the morning-after pill on university women and the additional risk this presents to DES daughters are discussed. The sociopolitical and economic contributing factors to the vaginal cancer epidemic and the extent to which the scientific direction of medical care is influenced by economic factors are examined. Public health measures which might prevent the occurrence of such man-made epidemics in the future are recommended.

  19. Congenital myopathies: clinical and immunohistochemical study.

    PubMed

    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process. PMID:22234203

  20. Epidermal Choristoma of the Tongue Mimicking a Congenital Melanotic Macule.

    PubMed

    Curto-Barredo, Laia; Vicente, Asunción; Rovira, Carlota; García-Diez, Eloy; Pujol, Ramón M; González-Enseñat, Maria Antonia

    2015-01-01

    We report the fifth case of epidermal choristoma of the oral cavity in a Caucasian newborn with a congenital melanotic macule on the dorsum of the tongue. Epidermal choristoma is an exceedingly rare and benign condition probably caused by a developmental abnormality. It is identified according to the presence of normal skin in an abnormal location. Histologically it is identified according to areas of stratified epithelium and hyperpigmentation of the basal layer along with cutaneous adnexal structures (hair follicles, sebaceous or sweat glands). The clinical presentation is variable, but most of the cases described presented with a congenital lingual pigmented macule. These lesions should be included within the differential diagnosis of congenital lingual macules and distinguished from other entities such as congenital lingual melanotic macules and melanocytic lesions. Surgical excision is the treatment of choice. Epidermal choristoma is a benign condition that probably is underdiagnosed because it is a new and rare entity, and dermatologists should be aware of it.

  1. 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. PMID:21541884

  2. 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.

  3. Progesterone vaginal ring for luteal support.

    PubMed

    Stadtmauer, Laurel; Waud, Kay

    2015-02-01

    Progesterone supplementation is universally used and has been shown to be beneficial in supplementation of the luteal phase in IVF. There are multiple options and the most commonly used include intramuscular and vaginal progesterone. A progesterone vaginal ring is a novel system for luteal support with advantages of controlled release with less frequent dosing. This review examines options for progesterone luteal support focusing on the rationale for a progesterone vaginal ring. Pub-med search of the literature. A weekly vaginal ring, although not yet FDA approved, is an effective and safe alternative for luteal supplementation in IVF. Large prospective clinical trials are needed to determine the best protocols for replacement cycles.

  4. Vaginal hysterectomy: past, present, and future.

    PubMed

    Moen, Michael D; Richter, Holly E

    2014-09-01

    Vaginal hysterectomy is the oldest and least invasive of the hysterectomy techniques and fulfills the evidence-based requirements as the preferred route of hysterectomy for benign gynecologic disease. Currently, vaginal hysterectomy is commonly utilized for treating uterine prolapse, but despite proven safety and effectiveness, the use of vaginal hysterectomy for treating non-prolapse conditions has been and remains underutilized in surgical practice. Improving the use of vaginal hysterectomy in the future will likely depend on addressing the key issues of training and maintaining skills in the technique and increasing awareness of the scientific evidence supporting its use.

  5. The changing landscape of the vaginal microbiome.

    PubMed

    Huang, Bernice; Fettweis, Jennifer M; Brooks, J Paul; Jefferson, Kimberly K; Buck, Gregory A

    2014-12-01

    Deep sequence analysis of the vaginal microbiome is revealing an unexpected complexity that was not anticipated as recently as several years ago. The lack of clarity in the definition of a healthy vaginal microbiome, much less an unhealthy vaginal microbiome, underscores the need for more investigation of these phenomena. Some clarity may be gained by the careful analysis of the genomes of the specific bacteria in these women. Ongoing studies will clarify this process and offer relief for women with recurring vaginal maladies and hope for pregnant women to avoid the experience of preterm birth. PMID:25439274

  6. A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

    PubMed

    Sismani, C; Donoghue, J; Alexandrou, A; Karkaletsi, M; Christopoulou, S; Konstantinidou, A E; Livanos, P; Patsalis, P C; Velissariou, V

    2013-11-01

    Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers. We report on the prenatal diagnosis of a duplication on the long arm of chromosome X from chromosomal band Xq13.2 to q21.31 in a male fetus with increased nuchal translucency in the first trimester and polyhydramnios at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed additional chromosomal material in the long arm of chromosome X at position Xq13. Analysis with high resolution array CGH revealed the additional material is in fact a duplication of the region Xq13.2-q21.13. The duplication is 14.8 Mb in size and includes fourteen genes: SLC16A2, KIAA2022, ABCB7, ZDHHC15, ATRX, MAGT1, ATP7A, PGK1, TBX22, BRWD3, POU3F4, ZNF711, POF1B and CHM. Analysis of the parents revealed the mother to be a carrier of the same duplication. After elected termination of the pregnancy at 28 weeks a detailed autopsy of the fetus allowed for genotype-phenotype correlations.

  7. 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

  8. The management of congenital malpositions of eyelids, eyes and orbits.

    PubMed

    Morax, S; Hurbli, T

    1988-01-01

    Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).

  9. Novel Annular and Subvalvular Enlargement in Congenital Mitral Valve Replacement.

    PubMed

    Carroll, Nels D; Beers, Kevin M; Maldonado, Elaine M; Calhoon, John H; Husain, S Adil

    2016-09-01

    Reparative procedures are not always feasible in congenitally abnormal mitral valves. Mechanical prosthesis has been accepted as the choice for valve replacement in the pediatric population. This report describes a case of congenital mitral valve disease requiring mitral valve replacement. The infant's mitral valve annulus was not amenable to placement of the smallest available mechanical prosthesis. The approach used here for annular and subvalvular enlargement facilitated implantation of a larger prosthesis for congenital mitral valve replacement. Five-year outcomes in a single patient may indicate broader applicability and avoidance of patient-prosthesis mismatch.

  10. Is a Vaginal Birth Possible After a Cesarean Delivery?

    MedlinePlus

    ... Clinical Trials Resources and Publications Is a vaginal birth possible after a cesarean delivery? Skip sharing on social media links Share this: Page Content Vaginal birth after cesarean (VBAC) describes vaginal delivery by a ...

  11. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  12. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  13. Congenital optic nerve anomalies and hereditary optic neuropathies

    PubMed Central

    Heidary, Gena

    2014-01-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant. PMID:27625883

  14. Congenital optic nerve anomalies and hereditary optic neuropathies.

    PubMed

    Heidary, Gena

    2014-12-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant. PMID:27625883

  15. 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.

  16. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Vaginal stent. 884.3900 Section 884.3900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or...

  17. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Vaginal stent. 884.3900 Section 884.3900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or...

  18. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Vaginal stent. 884.3900 Section 884.3900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or...

  19. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Vaginal stent. 884.3900 Section 884.3900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or...

  20. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Vaginal stent. 884.3900 Section 884.3900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or...

  1. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  2. Differential Protein Expression in Congenital and Acquired Cholesteatomas

    PubMed Central

    Kim, Sung Huhn; Choi, Jae Young

    2015-01-01

    Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D) electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS) to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5–3), plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5–3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5–3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins may differ

  3. [Bacterial vaginal fluor in intrauterine contraception].

    PubMed

    Feichter, G E; Nohlen, M; Tauber, P F

    1979-11-01

    Vaginal swabs obtained from 100 IUD-users were examined bacteriologically. Fifty-one women had vaginal discharge and 49 women used as control group had no complaints originating either from the IUD or from the genital tract. In the group of IUD-users with vaginal discharge the number of bacterial isolates was higher and the cultures were more diversified. The nulliparous patients in this group exhibited more anaerobic cultures than the IUD-users without discharge. The significance of vaginal discharge in IUD-users is its function as a pool for pathogenic bacteria which may provoke and/or maintain inflammatory diseases of the female genital tract. IUD-users with vaginal discharge do therefore need not only bacteriologic diagnosis, but also consequent treatment of the discharge.

  4. Comparison of the therapeutic effects of Garcin® and fluconazole on Candida vaginitis

    PubMed Central

    Ebrahimy, Farzaneh; Dolatian, Mahrokh; Moatar, Fariborz; Majd, Hamid Alavi

    2015-01-01

    INTRODUCTION This study aimed to determine and compare the effects of garlic tablets (Garcin®) and fluconazole on Candida vaginitis in women who presented to a health centre in Koohdasht, Iran, from August 2011 to March 2012. METHODS The clinical trial was conducted on 110 married women (aged 18–44 years) who had complaints of itching or a burning sensation in the vaginal area. Candida vaginitis was diagnosed by pH measurement of vaginal secretions, direct microscopic evaluation and Sabouraud dextrose agar cultures of the vaginal discharge. On confirmation of diagnosis, the patients were randomly divided into two groups (n = 55). One group received 1,500 mg of Garcin tablets daily and the other received fluconazole tablets 150 mg daily, over a period of seven days. Four to seven days after the completion of treatment, patients were examined for treatment response and possible side effects. RESULTS Complaints related to the disease improved by about 44% in the Garcin group and 63.5% in the fluconazole group (p < 0.05). The overall symptoms of the disease (i.e. redness of vulva and vagina, cheesy discharge, pustulopapular lesions and abnormal cervix) improved by about 60% in the Garcin group and 71.2% in the fluconazole group (p > 0.05). Results of microscopic evaluation and vaginal discharge culture showed significant differences before and after intervention in both groups (p < 0.05). CONCLUSION The present study shows that Garcin tablets could be a suitable alternative to fluconazole for the treatment of Candida vaginitis. PMID:26512149

  5. Vaginitis

    MedlinePlus

    ... AIDS Influenza Malaria Respiratory Syncytial Virus (RSV) Tuberculosis Zika Virus Find a Funding Opportunity Opportunities & Announcements Types of ... however, can have severe reactions to EBV infections. Zika Virus Discovered in the Zika forest, Uganda, in 1947, ...

  6. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  7. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  8. Comparison of the effects of different menstrual tampons on the vaginal epithelium: a randomised clinical trial.

    PubMed

    Raudrant, D; Landrivon, G; Frappart, L; De Haas, P; Champion, F; Ecochard, R

    1995-01-01

    The effects on the vaginal epithelium of three different menstrual tampons in normal conditions of use were studied in 41 women during the menstrual period. The vaginal epithelium was studied in a total of 123 cycles at a structural and ultra-structural level with colposcopy, vaginal smear and biopsy on TEM and SEM. One of the three tampons studied showed a lower level of abnormalities on colposcopy (36.6% vs. 56.1% vs. 68.3%), with an inverse correlation between the severity of the dryness and the quantity of blood absorbed by the tampon (4.2 g when the colposcopy was normal vs. 1.8 g in case of severe dryness). Cytology is not a good test for assessing the effects of tampons because of the high rate of acellular and uninterpretable samplings. The biopsy effects were defined according to their depth in the epithelium. The same tampon showed the lowest level in biopsy abnormalities. No correlation was found between severity of the colposcopy and biopsy results. Colposcopy can demonstrate the degree of severity of dryness or any other effect, but biopsy only confirms the effect and does not correlate the degree of severity. Materials and designs of tampons can play a role in reducing the drying effects to the vaginal epithelium.

  9. 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.

  10. 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

  11. Cytopathologic changes associated with intrauterine contraceptive devices. A review of cervico-vaginal smears in 350 women.

    PubMed

    Pillay, B; Gregory, A R; Subbiah, M

    1994-03-01

    Cervico-vaginal smears from 350 IUCD users were analysed to ascertain the range of abnormalities induced in the genital tract of these women. Alteration of the microbial environment, inflammatory, degenerative, reparative and proplastic epithelial changes were the salient cytological findings. The clinical implications of these are briefly discussed. PMID:8057995

  12. TP53 gene mutations and protein accumulation in primary vaginal carcinomas.

    PubMed Central

    Skomedal, H.; Kristensen, G.; Helland, A.; Nesland, J. M.; Kooi, S.; Børresen, A. L.; Holm, R.

    1995-01-01

    Primary carcinomas from 46 patients were screened for TP53 alterations. Immunohistochemistry demonstrated nuclear TP53 protein accumulation in 22 (48%) cases using the polyclonal CM1 antiserum, whereas 15 (33%) cases showed positive nuclear staining with the mononuclear antibody PAb 1801. Constant denaturant gel electrophoresis (CDGE) was used to screen 27 of the vaginal carcinomas for mutations in the conserved regions of the TP53 gene (exons 5-8). Six of these tumours (22%) contained mutations: four were found in exon 5 and two in exon 8. A total of 50% of the primary vaginal carcinomas carried a TP53 alteration. These results indicate that TP53 abnormalities may be involved in the development of these tumours. However, there was no significant association between TP53 abnormalities and survival. Images Figure 1 Figure 2 PMID:7599041

  13. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

    PubMed

    Pober, Barbara R

    2007-05-15

    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.

  14. Segregated responses of mammary gland development and vaginal opening to prepubertal genistein exposure in Bscl2(-/-) female mice with lipodystrophy.

    PubMed

    Li, Rong; El Zowalaty, Ahmed E; Chen, Weiqin; Dudley, Elizabeth A; Ye, Xiaoqin

    2015-07-01

    Berardinelli-Seip congenital lipodystrophy 2-deficient (Bscl2(-/-)) mice recapitulate human BSCL2 disease with lipodystrophy. Bscl2-encoded seipin is detected in adipocytes and epithelium of mammary gland. Postnatal mammary gland growth spurt and vaginal opening signify pubertal onset in female mice. Bscl2(-/-) females have longer and dilated mammary gland ducts at 5-week old and delayed vaginal opening. Prepubertal exposure to 500ppm genistein diet increases mammary gland area and accelerates vaginal opening in both control and Bscl2(-/-) females. However, genistein treatment increases ductal length in control but not Bscl2(-/-) females. Neither prepubertal genistein treatment nor Bscl2-deficiency affects phospho-estrogen receptor α or progesterone receptor expression patterns in 5-week old mammary gland. Interestingly, Bscl2-deficiency specifically reduces estrogen receptor β expression in mammary gland ductal epithelium. In summary, Bscl2(-/-) females have accelerated postnatal mammary ductal development but delayed vaginal opening; they display segregated responses in mammary gland development and vaginal opening to prepubertal genistein treatment.

  15. PHACE syndrome associated with congenital oculomotor nerve palsy.

    PubMed

    Murthy, Ramesh; Naik, Milind N; Desai, Savari; Honavar, Santosh G

    2009-01-01

    PHACE syndrome is a multisystem disorder presenting with facial hemangiomas, arterial anomalies, cardiac anomalies, posterior fossa malformations and eye abnormalities. The eye abnormalities include microphthalmos, cataracts, optic atrophy and iris hypoplasia. Amongst the neurological anomalies, posterior fossa malformations are common. Fourth nerve palsy has been reported with PHACE syndrome. We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.

  16. Medical management of abnormal pregnancy.

    PubMed

    Ratnam, S S; Prasad, R N

    1990-06-01

    Medical termination of abnormal pregnancy requires specific techniques since some conditions make therapy more effective, e.g., missed abortion intrauterine death and molar pregnancy, and others less so, e.g. anencephalic pregnancy. In all cases it is best to terminate the pregnancy as soon as possible to reduce anguish and risks of complications such as consumptive coagulopathy. Oxytocin is not consistently effective, but intraamniotic rivanol has oxytocic properties, and prostaglandins (PGs) are effective by several routes. Surgical methods are more popular in Japan and the US. A diagnostic flow chart is included and described. For missed abortion and fetal death vacuum aspiration or dilatation and evacuation are appropriate for early pregnancy, or PGs are used for later pregnancy, unless there are medical contraindications. Anencephalic pregnancy, usually diagnoses in 2nd or 3rd trimester, is resistant to medical therapy and must often be terminated by cesarean section. Molar pregnancy can be managed with vacuum aspiration at any length of gestation, but must be completed by curettage. Intraamniotic PGs are not advised for mole or fetal death. PG analogs can be administered intramuscularly, or vaginally in gel form. Other types of abnormal pregnancy that can be managed with PGs are spina bifida, hydrocephalus, hydrops fetalis, Dandy-Walker syndrome and Down's syndrome. Tubal pregnancy can be evacuated with intratubally administered PGs under laparoscopic control, thereby preserving tubal integrity. PMID:2225605

  17. Surgical treatments for vaginal apical prolapse

    PubMed Central

    Kong, Mi Kyung

    2016-01-01

    Pelvic organ prolapse is a common condition, occurring in up to 11% of women in the United States. Often, pelvic organ prolapse recurs after surgery; when it recurs after hysterectomy, it frequently presents as vaginal apical prolapse. There are many different surgical treatments for vaginal apical prolapse; among them, abdominal sacral colpopexy is considered the gold standard. However, recent data reveal that other surgical procedures also result in good outcome. This review discusses the various surgical treatments for vaginal apical prolapse including their risks and benefits. PMID:27462591

  18. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  19. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  20. Congenital ocular and adnexal disorders in reptiles.

    PubMed

    Sabater, Mikel; Pérez, Marisa

    2013-01-01

    Ocular and adnexal congenital disorders are those that manifest at birth and could involve single or multiple tissues. Several abnormalities have been reported in literature affecting reptilian ocular and/or adnexal tissues. The objectives of this review are: (i) review those disorders previously reported in reptile literature; (ii) present new cases; (iii) provide a basic classification of them according to the moment of occurrence and (iv) indirectly, encourage the clinician dealing with these cases to go further in their diagnosis. The authors consider that categorizing ocular and adnexal congenital disorders could help the clinician to deal with them. The categorization of these disorders required an intense review of cases previously reported in literature and allows the authors suspect that some of them could not have been accurately diagnosed according to the definitions of the anomalies and/or not accurately described. The authors consider that ocular and adnexal congenital disorders could have been underestimated in reptiles and further studies could be helpful to promote the description of new disorders and to expand the knowledge about those previously reported. The review will first describe abnormalities reported during organogenesis (describing possible etiopathogenesis, cases reported, an approach to their diagnosis and recommended therapeutic options).Then a mention of the ocular disorders occurring after organogenesis is made. These disorders are divided when possible in those affecting all or most part of the globe and those affecting only specific tissues (surface ectoderm, neurocrest and mesenchyma and neuroectoderm).

  1. 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.

  2. Perineal Groove: A Rare Congenital Midline Defect of Perineum.

    PubMed

    Harsono, Mimily; Pourcyrous, Massroor

    2016-03-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  3. Congenital familial subglottic stenosis: a case series and review of literature.

    PubMed

    Manickavasagam, J; Yapa, S; Bateman, N D; Thevasagayam, M S

    2014-02-01

    Subglottic stenosis is a narrowing of the endolarynx and maybe classified as congenital (primary) or acquired (secondary). Congenital stenosis maybe caused by a small cricoid cartilage, thick submucosa or other laryngeal abnormalities and remains a well-known cause of stridor in infancy. It occurs sporadically and familial occurrence is rare. Our case series identifies three children with congenital subglottic stenosis born to consanguineous parents. Congenital subglottic stenosis in siblings of unrelated parents has been previously reported, but not in consanguineous parents indicating a strong genetic link. We recommend further genetic research to assess the mode of possible heritage in this disease.

  4. Congenital Syndromes and Mildly Handicapped Students: Implications for Special Educators.

    ERIC Educational Resources Information Center

    Smith, Sandra M.

    1989-01-01

    Many learning disabilities or cases of mild retardation are due to medically diagnosable, congenital syndromes, such as fetal alcohol syndrome, sex chromosome abnormalities, multiple anomaly syndromes, phenylketonuria, and Tourette Syndrome. These syndromes are discussed, and suggestions are given for special education management. (Author/JDD)

  5. Limb-threatening ischemia secondary to a congenital acromioclavicular remnant.

    PubMed

    Enlow, Jonathan M; McGregor, Walter E

    2009-07-01

    Upper extremity vascular compromise from thoracic outlet syndrome is rare and is usually the result of a "cervical rib," anterior scalene muscle abnormality, or clavicular trauma. We report a case of acute axillary artery thrombosis secondary to a congenital acromioclavicular remnant in a 40-year-old woman.

  6. Hysterosalpingographic features of cervical abnormalities: acquired structural anomalies

    PubMed Central

    Zafarani, F; Shahrzad, G

    2015-01-01

    Cervical abnormalities may be congenital or acquired. Congenital cervical structural anomalies are relatively uncommon, whereas acquired cervical abnormalities are commonly seen in gynaecology clinics. Acquired abnormalities of the cervix can cause cervical factor infertility and recurrent spontaneous abortion. Various imaging tools have been used for evaluation of the uterine cavity and fallopian tubes. Hysterosalpingography (HSG) is a quick and minimally invasive tool for evaluation of infertility that facilitates visualization of the inner surfaces of the uterine cavity and fallopian tubes, as well as the cervical canal and isthmus. The lesions of the uterine cervix show various imaging manifestations on HSG such as narrowing, dilatation, filling defects, irregularities and diverticular projections. This pictorial review describes and illustrates the hysterosalpingographic appearances of normal variants and acquired structural abnormalities of the cervix. Accurate diagnosis of such cases is considered essential for optimal treatment. The pathological findings and radiopathological correlation will be briefly discussed. PMID:26111269

  7. Place of Schauta's radical vaginal hysterectomy.

    PubMed

    Roy, Michel; Plante, Marie

    2011-04-01

    Women affected by early stage invasive cancer of the cervix are usually treated by surgery. Radical abdominal hysterectomy with pelvic lymphadenectomy is the most widely used technique. Because the morbidity of the abdominal approach can be important, the radical vaginal hysterectomy has gained acceptance in gynaecologic oncology. New instrumentation in laparoscopy also opens the possibility of treating cervical cancer by laparoscopically assisted vaginal radical hysterectomy and also total laparoscopic radical hysterectomy. Before these techniques become widely accepted, it has to be shown that safety and efficacy are comparable with the 'standard' abdominal approach. In this chapter, we review the technique of radical vaginal hysterectomy with pelvic lymphadenectomy and evaluate results of published studies, comparing the abdominal, vaginal and laparoscopic approaches.

  8. Application of vaginal temperature measurement in bitches.

    PubMed

    Maeder, B; Arlt, S; Burfeind, O; Heuwieser, W

    2012-12-01

    Finding innovative, non-invasive methods for continuously measuring body temperature minimizing human interference is important for accurate data collection. The objective of this study was to assess feasibility and accuracy of continuous body temperature measurements with loggers placed in the vaginal cavity of bitches. First, an in vitro experiment was performed to compare values obtained by temperature loggers (n = 26) to a calibrated liquid-in-glass thermometer. The mean differences between the two methods were low. Next, an in vivo experiment was performed using five healthy bitches, and values obtained by the vaginal loggers were compared to measurements collected rectally with digital thermometers. The results show that rectal and vaginal temperatures were correlated. The mean differences between rectal and vaginal temperatures were negligible. We conclude that the utilized temperature loggers provide accurate and reliable data.

  9. Vaginal birth after C-section

    MedlinePlus

    ... gov/ency/patientinstructions/000589.htm Vaginal birth after C-section To use the sharing features on this ... enable JavaScript. If you had a cesarean birth (C-section) before, it does not mean that you ...

  10. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  11. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  12. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  13. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  14. Congenital platelet function defects

    MedlinePlus

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... disorder may also cause severe bleeding. Platelet storage pool disorder (also called platelet secretion disorder) occurs when ...

  15. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  16. Effect of vaginal estrogen on pessary use

    PubMed Central

    Dessie, Sybil G.; Armstrong, Katherine; Modest, Anna M.; Hacker, Michele R.

    2016-01-01

    Introduction and hypothesis Many providers recommend concurrent estrogen therapy with pessary use to limit complications; however, limited data exist to support this practice. We hypothesized that vaginal estrogen supplementation decreases incidence of pessary-related complications and discontinuation. Methods We performed a retrospective cohort study of women who underwent a pessary fitting from 1 January 2007 through 1 September 2013 at one institution; participants were identified by billing code and were eligible if they were post-menopausal and had at least 3 months of pessary use and 6 months of follow-up. All tests were two sided, and P values < 0.05 were considered statistically significant. Results Data from 199 women were included; 134 used vaginal estrogen and 65 did not. Women who used vaginal estrogen had a longer median follow-up time (29.5 months) compared with women who did not (15.4 months) and were more likely to have at least one pessary check (98.5 % vs 86.2 %, P < 0.001). Those in the estrogen group were less likely to discontinue using their pessary (30.6 % vs 58.5 %, P < 0.001) and less likely to develop increased vaginal discharge than women who did not [hazard ratio (HR) 0.31, 95 % confidence interval (CI) 0.17–0.58]. Vaginal estrogen was not protective against erosions (HR 0.93, 95 % CI 0.54–1.6) or vaginal bleeding (HR 0.78, 95 % CI 0.36–1.7). Conclusions Women who used vaginal estrogen exhibited a higher incidence of continued pessary use and lower incidence of increased vaginal discharge than women who did not. PMID:26992727

  17. Vaginal Health During Breast Cancer Treatment.

    PubMed

    Falk, Sandy J; Bober, Sharon

    2016-05-01

    There are increasing numbers of breast cancer survivors. Chemotherapy or endocrine therapy result in effects on vaginal health that may affect quality of life. These effects may impact sexual function, daily comfort, or the ability to perform a pelvic examination. Vulvovaginal atrophy, or genitourinary syndrome of menopause, may be treated with nonhormonal or hormonal measures. Breast cancer survivors who are menopausal and/or on endocrine therapy should be screened for issues with vaginal health and counseled about treatment options.

  18. 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. PMID:27180245

  19. [Folate deficiency, cancer and congenital abnormalities. Is there a connection?].

    PubMed

    Christensen, B

    1996-01-20

    The biochemical role of folate is in the interconversion of one-carbon units in intermediary metabolism; a process in which a methyl group is formed de novo. The methyl group is subsequently transferred to adenosylmethionine, which is an important methyl donor in the methylation of DNA. A negative correlation exists between the intake of folate in pregnancy and the occurrence of neural tube defects and certain malignant brain tumours in children. Numerous clinical studies have pointed to an association between folate status in adults and both the occurrence of cancer and the premalignant changes, cervical dysplasia, bronchial metaplasia, and colorectal adenomas. Folate deficiency may cause chromosomal damage, due to impaired DNA synthesis or repair. Moreover, decreased production of adenosylmethionine may influence the expression of developmental genes and of oncogenes and/or tumour suppressor genes through disturbed methylation of DNA. PMID:8633336

  20. Focal and abnormally persistent paralysis associated with congenital paramyotonia.

    PubMed

    Magot, Armelle; David, Albert; Sternberg, Damien; Péréon, Yann

    2014-01-01

    Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis. A 27-year-old woman presented with paramyotonia congenita since her childhood. She experienced during her childhood one brief episode of generalised weakness. At the age of 27, she experienced a focal paresis lasting for several months. The known mutation p.Val1293Ile was found in the muscle sodium channel gene (SCN4A). Channel inactivation is involved in most Na(+) channelopathies. Fast inactivation is known to be responsible for the myotonia phenotype. We hypothesise that the V1293I mutation may also alter the slow inactivation in specific conditions, for example, prolonged cold exposure or prolonged and intensive exercise. This observation broadens the spectrum of clinical manifestations of this sodium channel mutation. PMID:24939454

  1. Congenital amusia in childhood: a case study.

    PubMed

    Lebrun, Marie-Andrée; Moreau, Patricia; McNally-Gagnon, Andréane; Mignault Goulet, Geneviève; Peretz, Isabelle

    2012-06-01

    Here we describe the first documented case of congenital amusia in childhood. AS is a 10-year-old girl who was referred to us by her choir director for persisting difficulties in singing. We tested her with the child version of the Montreal Battery for the Evaluation of Amusia (MBEA) which confirmed AS's severe problems with melodic and rhythmic discrimination and memory for melodies. The disorder appears to be limited to music since her audiometry as well as her intellectual and language skills are normal. Furthermore, the musical disorder is associated to a severe deficit in detecting small pitch changes. The electrical brain responses point to an anomaly in the early stages of auditory processing, such as reflected by an abnormal mismatch negativity (MMN) response to small pitch changes. In singing, AS makes more pitch than time errors. Thus, despite frequent and regular musical practice, AS's profile is similar to the adult form of congenital amusia. PMID:21453912

  2. Genetic Aspects of Congenital and Idiopathic Scoliosis

    PubMed Central

    Giampietro, Philip F.

    2012-01-01

    Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the difficulties in understanding their genetic basis that investigators face. Despite the differences between these two conditions there is observational and experimental evidence supporting common genetic mechanisms. This paper focuses on the clinical features of both CS and IS and highlights genetic and environmental factors which contribute to their occurrence. It is anticipated that emerging genetic technologies and improvements in phenotypic stratification of both conditions will facilitate improved understanding of the genetic basis for these conditions and enable targeted prevention and treatment strategies. PMID:24278672

  3. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2015-01-01

    The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

  4. Lactobacillus species as biomarkers and agents that can promote various aspects of vaginal health.

    PubMed

    Petrova, Mariya I; Lievens, Elke; Malik, Shweta; Imholz, Nicole; Lebeer, Sarah

    2015-01-01

    The human body is colonized by a vast number of microorganisms collectively referred to as the human microbiota. One of the main microbiota body sites is the female genital tract, commonly dominated by Lactobacillus spp., in approximately 70% of women. Each individual species can constitute approximately 99% of the ribotypes observed in any individual woman. The most frequently isolated species are Lactobacillus crispatus, Lactobacillus gasseri, Lactobacillus jensenii and Lactobacillus iners. Residing at the port of entry of bacterial and viral pathogens, the vaginal Lactobacillus species can create a barrier against pathogen invasion since mainly products of their metabolism secreted in the cervicovaginal fluid can play an important role in the inhibition of bacterial and viral infections. Therefore, a Lactobacillus-dominated microbiota appears to be a good biomarker for a healthy vaginal ecosystem. This balance can be rapidly altered during processes such as menstruation, sexual activity, pregnancy and various infections. An abnormal vaginal microbiota is characterized by an increased diversity of microbial species, leading to a condition known as bacterial vaginosis. Information on the vaginal microbiota can be gathered from the analysis of cervicovaginal fluid, by using the Nugent scoring or the Amsel's criteria, or at the molecular level by investigating the number and type of Lactobacillus species. However, when translating this to the clinical setting, it should be noted that the absence of a Lactobacillus-dominated microbiota does not appear to directly imply a diseased condition or dysbiosis. Nevertheless, the widely documented beneficial role of vaginal Lactobacillus species demonstrates the potential of data on the composition and activity of lactobacilli as biomarkers for vaginal health. The substantiation and further validation of such biomarkers will allow the design of better targeted probiotic strategies. PMID:25859220

  5. Lactobacillus species as biomarkers and agents that can promote various aspects of vaginal health

    PubMed Central

    Petrova, Mariya I.; Lievens, Elke; Malik, Shweta; Imholz, Nicole; Lebeer, Sarah

    2015-01-01

    The human body is colonized by a vast number of microorganisms collectively referred to as the human microbiota. One of the main microbiota body sites is the female genital tract, commonly dominated by Lactobacillus spp., in approximately 70% of women. Each individual species can constitute approximately 99% of the ribotypes observed in any individual woman. The most frequently isolated species are Lactobacillus crispatus, Lactobacillus gasseri, Lactobacillus jensenii and Lactobacillus iners. Residing at the port of entry of bacterial and viral pathogens, the vaginal Lactobacillus species can create a barrier against pathogen invasion since mainly products of their metabolism secreted in the cervicovaginal fluid can play an important role in the inhibition of bacterial and viral infections. Therefore, a Lactobacillus-dominated microbiota appears to be a good biomarker for a healthy vaginal ecosystem. This balance can be rapidly altered during processes such as menstruation, sexual activity, pregnancy and various infections. An abnormal vaginal microbiota is characterized by an increased diversity of microbial species, leading to a condition known as bacterial vaginosis. Information on the vaginal microbiota can be gathered from the analysis of cervicovaginal fluid, by using the Nugent scoring or the Amsel's criteria, or at the molecular level by investigating the number and type of Lactobacillus species. However, when translating this to the clinical setting, it should be noted that the absence of a Lactobacillus-dominated microbiota does not appear to directly imply a diseased condition or dysbiosis. Nevertheless, the widely documented beneficial role of vaginal Lactobacillus species demonstrates the potential of data on the composition and activity of lactobacilli as biomarkers for vaginal health. The substantiation and further validation of such biomarkers will allow the design of better targeted probiotic strategies. PMID:25859220

  6. Consistently inconsistent, the posterior vaginal wall.

    PubMed

    Hale, Douglass S; Fenner, Dee

    2016-03-01

    Posterior vaginal wall prolapse is one of the most common prolapses encountered by gynecological surgeons. What appears to be a straightforward condition to diagnose and treat surgically for physicians has proven to be frustratingly unpredictable with regard to symptom relief for patients. Functional disorders such as dyssynergic defecation and constipation are often attributed to posterior vaginal wall prolapse. Little scientific evidence supports this assumption, emphasizing that structure and function are not synonymous when treating posterior vaginal wall prolapse. Rectoceles, enteroceles, sigmoidoceles, peritoneoceles, rectal and intraanal intussusception, rectal prolapse, and descending perineal syndrome are all conditions that have an impact on the posterior vaginal wall. All too often these different anatomic conditions are treated with the same surgical approach, addressing a posterior vaginal wall bulge with a traditional posterior colporrhaphy. Studies that examine the correlation between stage of posterior wall prolapse and patient symptoms have failed to reliably do so. Surgical outcomes measured by prolapse staging appear successful, yet patient expectations are often not met. As increasing attention is being placed on patient satisfaction outcomes concerning surgical treatments, this fact will need to be addressed. Surgeons will have to clearly communicate what can and what cannot be expected with surgical repair of posterior vaginal wall prolapse.

  7. Vaginal Dysbiosis from an Evolutionary Perspective

    PubMed Central

    Schlabritz-Loutsevitch, Natalia; Gygax, Scott E; Dick, Edward; Smith, William L.; Snider, Cathy; Hubbard, Gene; Ventolini, Gary

    2016-01-01

    Evolutionary approaches are powerful tools for understanding human disorders. The composition of vaginal microbiome is important for reproductive success and has not yet been characterized in the contexts of social structure and vaginal pathology in non-human primates (NHPs). We investigated vaginal size, vulvovaginal pathology and the presence of the main human subtypes of Lactobacillus spp./ BV-related species in the vaginal microflora of baboons (Papio spp.). We performed morphometric measurements of external and internal genitalia (group I, n = 47), analyzed pathology records of animals from 1999–2015 (group II, n = 64 from a total of 12,776), and evaluated vaginal swabs using polymerase chain reaction (PCR) (group III, n = 14). A total of 68 lesions were identified in 64 baboons. Lactobacillus iners, Gardnerella vaginalis, Atopobium vaginae, Megasphaera I, and Megasphaera II were not detected. L. jensenii, L. crispatus, and L. gasseri were detected in 2/14 (14.2%), 1/14 (7.1%), and 1/14 (7.1%) samples, respectively. BVAB2 was detected in 5/14 (35.7%) samples. The differences in the vaginal milieu between NHP and humans might be the factor associated with human-specific pattern of placental development and should be taken in consideration in NHP models of human pharmacology and microbiology. PMID:27226349

  8. The vaginal microbiome: rethinking health and diseases

    PubMed Central

    Ma, Bing; Forney, Larry J.; Ravel, Jacques

    2013-01-01

    Vaginal microbiota form a mutually beneficial relationship with their host and have major impact on health and disease. In recent years our understanding of vaginal bacterial community composition and structure has significantly broadened as a result of investigators using cultivation-independent methods based on the analysis of 16S ribosomal RNA (rRNA) gene sequences. In asymptomatic, otherwise healthy women, several kinds of vaginal microbiota exist, the majority often dominated by species of Lactobacillus, while others comprise a diverse array of anaerobic microorganisms. Bacterial vaginosis is the most common vaginal conditions and is vaguely characterized as the disruption of the equilibrium of the ‘normal’ vaginal microbiots. A better understanding of ‘normal’ and ‘healthy’ vaginal ecosystems that is based on its ‘true’ function and not simply on its composition would help better define health and further improve disease diagnostics as well as the development of more personalized regimens to promote health and treat diseases. PMID:22746335

  9. Vaginal Dysbiosis from an Evolutionary Perspective.

    PubMed

    Schlabritz-Loutsevitch, Natalia; Gygax, Scott E; Dick, Edward; Smith, William L; Snider, Cathy; Hubbard, Gene; Ventolini, Gary

    2016-01-01

    Evolutionary approaches are powerful tools for understanding human disorders. The composition of vaginal microbiome is important for reproductive success and has not yet been characterized in the contexts of social structure and vaginal pathology in non-human primates (NHPs). We investigated vaginal size, vulvovaginal pathology and the presence of the main human subtypes of Lactobacillus spp./ BV-related species in the vaginal microflora of baboons (Papio spp.). We performed morphometric measurements of external and internal genitalia (group I, n = 47), analyzed pathology records of animals from 1999-2015 (group II, n = 64 from a total of 12,776), and evaluated vaginal swabs using polymerase chain reaction (PCR) (group III, n = 14). A total of 68 lesions were identified in 64 baboons. Lactobacillus iners, Gardnerella vaginalis, Atopobium vaginae, Megasphaera I, and Megasphaera II were not detected. L. jensenii, L. crispatus, and L. gasseri were detected in 2/14 (14.2%), 1/14 (7.1%), and 1/14 (7.1%) samples, respectively. BVAB2 was detected in 5/14 (35.7%) samples. The differences in the vaginal milieu between NHP and humans might be the factor associated with human-specific pattern of placental development and should be taken in consideration in NHP models of human pharmacology and microbiology. PMID:27226349

  10. Ineffectiveness of erythromycin for treatment of Haemophilus vaginalis-associated vaginitis: possible relationship to acidity of vaginal secretions.

    PubMed Central

    Durfee, M A; Forsyth, P S; Hale, J A; Holmes, K K

    1979-01-01

    To assess the efficacy of oral erythromycin in the treatment of nonspecific vaginitis (NSV), conducted a nonrandom, unblinded pilot study among 17 women with symptoms and signs of NSV. At the completion of treatment, 10 of 13 patients had persistent symptoms, 9 of 13 had persistent abnormal discharge, and 11 of 13 had persistently positive cultures for Haemophilus vaginalis. Ten patients with persistent or relapsing NSV and four who did not complete erythromycin treatment were retreated with oral metronidazole, and 14 of 14 showed clinical improvement and eradication of H. vaginalis. The susceptibility of 27 clinical isolates of H. vaginalis to erythromycin was determined at pH 5.5, 6.0, 6.5, and 7.0. The minimal inhibitory concentration of erythromycin for H. vaginalis was approximately 10-fold higher at pH 5.5 than at pH 7.0. Erythromycin is not effective for the treatment of H. vaginalis-associated NSV; this may be partly attributable to the reduced activity of this drug in acidic vaginal secretions. PMID:43114

  11. Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

    SciTech Connect

    Wijesekera, N. T. Padley, S. P.; Kazmi, F.; Davies, C. L.; McCall, J. M.

    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.

  12. Congenital and compensated vestibular dysfunction in childhood: an overlooked entity.

    PubMed

    Weiss, Avery H; Phillips, James O

    2006-07-01

    We report five children with previously unrecognized vestibular dysfunction detected by clinical examination and confirmed by quantitative vestibular testing. Patient 1 presented with fluctuating visual acuity and intermittent nystagmus. Patient 2 had congenital hearing loss associated with imbalance, delayed motor development, and cyclic vomiting. Patient 3 had neurotrophic keratitis with an intermittent head tilt, imbalance, and motor delays. Patient 4 showed ataxia and eye movement abnormalities following traumatic brain injury and had reading difficulties. Patient 5 had episodic vertigo and eye movement abnormalities from infancy. Clinical vestibular testing emphasized spontaneous nystagmus, rapid head thrust, and assessment of post-rotatory nystagmus. Quantitative vestibular testing included the sinusoidal chair rotation and velocity step tests, measurement of dynamic visual acuity, post-head-shake nystagmus, and computerized platform posturography. Pediatric neurologists encounter children with congenital and compensated vestibular dysfunction, which can be recognized on the basis of relevant history and clinical abnormalities of the ocular-ocular reflex.

  13. The effects of three nonoxynol-9 preparations on vaginal flora and epithelium.

    PubMed

    Watts, D H; Rabe, L; Krohn, M A; Aura, J; Hillier, S L

    1999-08-01

    To evaluate the effects of nonoxynol-9 (N-9) on the vaginal flora and epithelium, 48 women (16 in each group) were evaluated by use of quantitative vaginal cultures and colposcopy. at baseline and at 0.5, 4, 24, 48, and 72 h after insertion of one of three N-9 preparations (4% gel [Conceptrol], 3.5% gel [Advantage-24], or a 28% vaginal contraceptive film). The proportion positive for H2O2+ or H2O2- lactobacilli did not change significantly with any of the preparations, but lactobacilli concentrations decreased transiently. Both the proportion of women with Gardnerella vaginalis and the concentration of G. vaginalis decreased transiently. The proportion of women with Escherichia coli increased with the 4% gel, and the concentration increased with all preparations. The number with anaerobic gram-negative rods increased, although the concentrations decreased. Symptoms and colposcopic abnormalities were rare. Changes in levels of vaginal bacteria were transient after single applications of N-9, but adverse effects may be enhanced with frequent, chronic use. PMID:10395859

  14. Coexistent Congenital Diaphragmatic Hernia with Extrapulmonary Sequestration

    PubMed Central

    Kawamura, Nao; Bhandal, Samarjeet

    2016-01-01

    Bronchopulmonary foregut malformations are a heterogeneous but interrelated group of abnormalities that may contain more than one histologic feature. It is helpful to be familiar with the presentation and imaging features of bronchopulmonary foregut malformations presenting as a congenital mass or mass-like lesion, as imaging plays a central role in the evaluation of these lesions since, when symptomatic, clinical features are usually nonspecific. With imaging, the presence of other associated lesions can be determined, facilitating appropriate management to prevent the potential complications. We report a case of coexisting extralobar pulmonary sequestration and ipsilateral diaphragmatic hernia in a term neonate. PMID:27445516

  15. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  16. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  17. Comparison of vaginal flora after treatment with a clotrimazole 500 mg vaginal pessary or a fluconazole 150 mg capsule for vaginal candidosis.

    PubMed Central

    Boag, F C; Houang, E T; Westrom, R; McCormack, S M; Lawrence, A G

    1991-01-01

    The effect of antifungal therapy on the vaginal microbial flora was studied in 23 patients suffering from culture-positive, symptomatic vaginal candidosis. They were randomly allocated to receive either a 500 mg clotrimazole vaginal pessary or a 150 mg fluconazole capsule. Quantitative microbiological examination was carried out on samples of vaginal secretions obtained prior, and at intervals up to 10 days after, treatment. No significant difference was found in the vaginal flora before or after therapy in individual patients or between the treatment groups. In patients with C glabrata or C krusei, the yeasts persisted longer in the vagina with poorer response to either of the medications. PMID:2071126

  18. Electrosurgical Settings and Vaginal Cuff Complications

    PubMed Central

    Lawlor, Megan L.; Rao, Rama; Manahan, Kelly J.

    2015-01-01

    Background and Objectives: After being encouraged to change the technique for opening the vaginal cuff during robotic surgery, this study was performed to determine the correlation between vaginal cuff complications and electrosurgical techniques. Methods: The study group consisted of patients who had their vaginal cuffs opened with a cutting current compared to the group of patients having their vaginal cuff opened with a coagulation current. Data were collected on 150 women who underwent robotic surgery for endometrial cancer. All patients received preoperative antibiotics. Data, including operative time, type of electrosurgery used, estimated blood loss, transfusion rate, and complications, were collected from the patients' records. Results: Surgeries in 150 women and the associated complications were studied. The mean age of the patients was not significantly different between the groups (P = .63). The mean body mass index was 38 kg/m2 in the coagulation arm and 36 kg/m2 in the cutting arm (P = .03). Transfusion was not required. Estimated blood loss and operative time were not significantly different in the coagulation versus the cutting arms (P = .29 and .5; respectively). No patients in the cutting arm and 4 patients (with 5 complications) in the coagulation arm had cuff complications (P = .02). Conclusions: Complications involving the vaginal cuff appear to occur more frequently when the vagina is entered by using electrosurgery with coagulation versus cutting in this cohort of patients undergoing robot-assisted surgery for endometrial cancer.. PMID:26681912

  19. A comprehensive review of vaginitis phytotherapy.

    PubMed

    Azimi, Hanieh; Fallah-Tafti, Mehrnaz; Karimi-Darmiyan, Maliheh; Abdollahi, Mohammad

    2011-11-01

    To overview phytotherapy of vaginitis in order to identify new approaches for new pharmacological treatments. All related literature databases were searched for herbal medicinal treatment in vaginitis. The search terms were plant, herb, herbal therapy, phytotherapy, vaginitis, vaginal, anti-candida, anti-bacterial and anti-trichomonas. All of the human, animal and in vitro studies were included. Anti-candida, anti-bacterial and anti-trichomonas effects were the key outcomes. The plants including carvacrol, 1,8-cineole, geranial, germacrene-D, limonene, linalool, menthol, terpinen-4-ol and thymol exhibited anti-candida effects. A very low concentration of geranium oil and geraniol blocked mycelial growth, but not yeast. Tea tree oil including terpinen-4-ol, alpha-terpinene, gamma-terpinene and alpha-terpineol showed anti-bacterial, anti-fungal and anti-protozoal properties against trichomonas. Allium hirtifolium (persian shallot) comparable to metronidazole exhibited anti-trichomonas activity due to its components such as allicin, ajoene and other organosulfides. The plants having beneficial effects on vaginitis encompass essential oils that clear the pathway that future studies should be focused to standardize theses herbs. PMID:22514885

  20. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  1. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  2. Dental and bone abnormalities in patients with familial polyposis coli.

    PubMed

    Carl, W; Herrera, L

    1987-01-01

    Dental and bone abnormalities of the maxilla and mandible are present in approximately 80% of patients with familial polyposis coli. The dental abnormalities include impacted teeth (other than third molars), supernumerary teeth, congenitally missing teeth, fused roots of first and second molars, and unusually long and tapered roots of posterior teeth. The bone lesions consist mostly of osteomas, either isolated or in clusters, in the maxilla and mandible or of exostoses with lateral and/or lingual extensions. Since dental and bone abnormalities are already present early in life there is a strong suggestion that they may be used as diagnostic features in the recognition of familial polyposis coli.

  3. Effects of low dose estrogen therapy on the vaginal microbiomes of women with atrophic vaginitis

    PubMed Central

    Shen, Jian; Song, Ning; Williams, Christopher J.; Brown, Celeste J.; Yan, Zheng; Xu, Chen; Forney, Larry J.

    2016-01-01

    Atrophic vaginitis (AV) is common in postmenopausal women, but its causes are not well understood. The symptoms, which include vaginal itching, burning, dryness, irritation, and dyspareunia, can usually be alleviated by low doses of estrogen given orally or locally. Regrettably, the composition of vaginal bacterial communities in women with AV have not been fully characterized and little is known as to how these communities change over time in response to hormonal therapy. In the present intervention study we determined the response of vaginal bacterial communities in postmenopausal women with AV to low-dose estrogen therapy. The changes in community composition in response to hormonal therapy were rapid and typified by significant increases in the relative abundance of Lactobacillus spp. that were mirrored by a decreased relative abundance of Gardnerella. These changes were paralleled by a significant four-fold increase in serum estradiol levels and decreased vaginal pH, as well as nearly a two-fold increase in the Vaginal Maturation Index (VMI). The results suggest that after menopause a vaginal microbiota dominated by species of Lactobacillus may have a beneficial role in the maintenance of health and these findings that could lead to new strategies to protect postmenopausal women from AV. PMID:27103314

  4. [Vaginal sonography versus vaginal palpation: initial experiences in 120 pregnant patients with suspected cervix insufficiency].

    PubMed

    Böhmer, S; Degenhardt, F; Gerlach, C; Jagla, K; Schneider, J

    1989-01-01

    In a clinical study a group of pregnant women with suspected cervical incompetence was examined by vaginal sonography. Aim of the investigation was to compare results of performed vaginal palpation with results of sonography. 120 pregnant women with cervical insufficiency between 16th and 33rd week of gestation were examined by a 5-MHz vaginal sectorscanner probe. After focussing sagittal projection of uterine cervix and lower uterine segment the cervical length and opening of the internal os were assessed prior to cerclage. Postoperative vaginal sonography was performed to ascertain lengthening and stabilization of the incompetent cervix. Another group of 50 pregnant women with unsuspicious obstetrical findings were also examined to gain information about normal sonographical morphology and length of the competent uterine cervix. Comparing results of vaginal palpation and vaginal sonography showed, that the cervical length obtained by sonography was constantly higher in all patients than the results obtained by palpation. This difference became more distinct in the group of patients with extreme cervical incompetence. We are of the opinion that vaginal sonography is an objective method revealing the extent of cervical incompetence. Exact measurement of the cervical length and assessment of the internal os are efficient diagnostic criteria. They complete results of cervical palpation and offer precise information concerning an intended cerclage. In case of suspected cervical incompetence continuous sonographical examination can supervise the development of the uterine cervix during pregnancy. In future the number of prophylactic cerclage-operations perhaps decreases by using the technique of transvaginal sonography. PMID:2669397

  5. Effects of low dose estrogen therapy on the vaginal microbiomes of women with atrophic vaginitis.

    PubMed

    Shen, Jian; Song, Ning; Williams, Christopher J; Brown, Celeste J; Yan, Zheng; Xu, Chen; Forney, Larry J

    2016-01-01

    Atrophic vaginitis (AV) is common in postmenopausal women, but its causes are not well understood. The symptoms, which include vaginal itching, burning, dryness, irritation, and dyspareunia, can usually be alleviated by low doses of estrogen given orally or locally. Regrettably, the composition of vaginal bacterial communities in women with AV have not been fully characterized and little is known as to how these communities change over time in response to hormonal therapy. In the present intervention study we determined the response of vaginal bacterial communities in postmenopausal women with AV to low-dose estrogen therapy. The changes in community composition in response to hormonal therapy were rapid and typified by significant increases in the relative abundance of Lactobacillus spp. that were mirrored by a decreased relative abundance of Gardnerella. These changes were paralleled by a significant four-fold increase in serum estradiol levels and decreased vaginal pH, as well as nearly a two-fold increase in the Vaginal Maturation Index (VMI). The results suggest that after menopause a vaginal microbiota dominated by species of Lactobacillus may have a beneficial role in the maintenance of health and these findings that could lead to new strategies to protect postmenopausal women from AV.

  6. 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

  7. Effects of low dose estrogen therapy on the vaginal microbiomes of women with atrophic vaginitis.

    PubMed

    Shen, Jian; Song, Ning; Williams, Christopher J; Brown, Celeste J; Yan, Zheng; Xu, Chen; Forney, Larry J

    2016-01-01

    Atrophic vaginitis (AV) is common in postmenopausal women, but its causes are not well understood. The symptoms, which include vaginal itching, burning, dryness, irritation, and dyspareunia, can usually be alleviated by low doses of estrogen given orally or locally. Regrettably, the composition of vaginal bacterial communities in women with AV have not been fully characterized and little is known as to how these communities change over time in response to hormonal therapy. In the present intervention study we determined the response of vaginal bacterial communities in postmenopausal women with AV to low-dose estrogen therapy. The changes in community composition in response to hormonal therapy were rapid and typified by significant increases in the relative abundance of Lactobacillus spp. that were mirrored by a decreased relative abundance of Gardnerella. These changes were paralleled by a significant four-fold increase in serum estradiol levels and decreased vaginal pH, as well as nearly a two-fold increase in the Vaginal Maturation Index (VMI). The results suggest that after menopause a vaginal microbiota dominated by species of Lactobacillus may have a beneficial role in the maintenance of health and these findings that could lead to new strategies to protect postmenopausal women from AV. PMID:27103314

  8. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy.

  9. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  10. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  11. Müllerian abnormalities in fertile women and recurrent aborters.

    PubMed

    Portuondo, J A; Camara, M M; Echanojauregui, A D; Calonge, J

    1986-07-01

    Ninety-six women with recurrent first-trimester spontaneous abortions underwent hysterosalpingography to rule out müllerian abnormalities, both congenital and acquired. Results were compared with those in 96 women who had undergone hysterosalpingography before artificial insemination by donor and subsequently had a full-term, normal delivery. The patients with two recurrent, consecutive abortions had müllerian abnormalities similar to those in women with three consecutive abortions; however, they had different müllerian abnormalities than did the control group. Congenital and acquired malformations seen most often in patients with recurrent abortions were septate, arcuate and bicornuate uteri and incompetent cervical os. Pelvic examination did not discriminate between patients with recurrent abortions and the control group.

  12. Tendons Involvement in Congenital Metabolic Disorders.

    PubMed

    Abate, Michele; Salini, Vincenzo; Andia, Isabel

    2016-01-01

    Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon). The detection of xanthomata is important, because it allows an early diagnosis and treatment of the disorder. Cerebrotendinous Xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism, characterized by accumulation of cholestanol in brain and tendons. Tendon abnormalities are similar to those reported in Heterozygous Familial Hypercholesterolaemia. Alkaptonuria is caused by a deficiency of the enzyme homogentisic acid oxidase. Due to the accumulation of the homogentisic acid, tendons and ligaments are characterized by a typical ochre/yellow pigmentation (ochronosis), with ensuing inflammation, calcification and rupture. In Congenital Hypergalactosemia an increased tendon collagen cross-linking by non-enzymatic galactosylation can be observed. Finally, Congenital Hypophosphatasia may be associated to deposition of hydroxyapatite crystals in rotator cuff, elbow, and Achilles tendons. PMID:27535253

  13. Outpatient vaginal hysterectomy in a community hospital.

    PubMed

    Meyer, M A; Lalich, R A; Meyer, M M; Widener, J

    1994-08-01

    From Sept 1, 1992 to Dec 31, 1993, 38 outpatient vaginal hysterectomy patients were evaluated for identification of complications after discharge, adequacy of pain relief at home, return to baseline lifestyle, and costs. No complications that would have necessitated an overnight or longer stay were identified. All patients reported adequate pain relief and a more rapid return to activity than they had expected. The hospital cost of outpatient vaginal hysterectomy was about half that of inpatient, and additional significant savings were realized in the cost of postoperative medication. Patients were positive about returning home the day of surgery and would recommend the protocol to others who qualified.

  14. [HPV contamination of endocavity vaginal ultrasound probes].

    PubMed

    Heard, I; Favre, M

    2015-02-01

    While the use of endovaginal ultrasound probes is increasing, the risk of contamination of women with endocavity vaginal probes was not assessed. In particular, the clinical significance of detection of human papillomavirus (HPV) infection, the most common sexually transmitted viral infection, on endovaginal ultrasound probes is uncertain. The recommendations of good practice for decontamination of these probes developed by the High Council for Public Health and the Academy of Medicine have not been evaluated. The objective of this article was to review recent publications concluding to the detection of HPV and human cellular DNA after gynecological examination and disinfection of vaginal ultrasound probes.

  15. 21 CFR 884.5900 - Therapeutic vaginal douche apparatus.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Therapeutic vaginal douche apparatus. 884.5900... Devices § 884.5900 Therapeutic vaginal douche apparatus. (a) Identification. A therapeutic vaginal douche apparatus is a device that is a bag or bottle with tubing and a nozzle. The apparatus does not...

  16. 21 CFR 884.5900 - Therapeutic vaginal douche apparatus.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Therapeutic vaginal douche apparatus. 884.5900... Devices § 884.5900 Therapeutic vaginal douche apparatus. (a) Identification. A therapeutic vaginal douche apparatus is a device that is a bag or bottle with tubing and a nozzle. The apparatus does not...

  17. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  18. [Diagnosis of congenital infection].

    PubMed

    Sampedro Martínez, Antonio; Martínez, Luis Aliaga; Teatino, Pablo Mazuelas; Rodríguez-Granger, Javier

    2011-12-01

    In general, congenital diagnosis is based on: a) maternal serologic assays; b) microbiologic study of amniotic fluid or fetal blood sampling; and c) serology in children and microorganism detection by polymerase chain reaction (PCR) or culture. Congenital infections due to cytomegalovirus, herpes simplex, varicella, B19 erythrovirus and toxoplasmosis are usually the result of primary infection in the mother. Therefore, when IgG antibodies are detected before pregnancy, these infections are ruled out. Definitive serologic diagnosis of acute infection in pregnant women requires the demonstration of seroconversion (i.e., from seronegative to seropositive). In these cases, amniotic fluid or fetal blood sampling should be performed to determine the presence of intrauterine congenital infection. Cytomegalovirus, rubella and toxoplasmosis can be diagnosed by detection of specific IgM antibodies in fetal blood. However, PCR in amniotic fluid has replaced conventional prenatal diagnostic techniques, including fetal blood sampling, in the diagnosis of these infections. In the newborn, these infections may be confirmed by measuring IgM specific antibodies. B19 erythrovirus can be detected by PCR in amniotic fluid or fetal blood. Congenital varicella-zoster infection may be diagnosed on the basis of persistence of IgG antibodies after birth. Definitive diagnosis of herpes simplex virus infection requires viral isolation. Swabs or scraping from clinical specimens can be inoculated into susceptible cell lines for isolation. PMID:22305665

  19. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

  20. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  1. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  2. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  3. Multiple congenital coagulation deficiencies.

    PubMed

    BONNIN, J A; HICKS, N D; INNIS, M D; SIMPSON, D A

    1960-07-01

    A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

  4. ACTN1 mutations cause congenital macrothrombocytopenia.

    PubMed

    Kunishima, Shinji; Okuno, Yusuke; Yoshida, Kenichi; Shiraishi, Yuichi; Sanada, Masashi; Muramatsu, Hideki; Chiba, Kenichi; Tanaka, Hiroko; Miyazaki, Koji; Sakai, Michio; Ohtake, Masatoshi; Kobayashi, Ryoji; Iguchi, Akihiro; Niimi, Gen; Otsu, Makoto; Takahashi, Yoshiyuki; Miyano, Satoru; Saito, Hidehiko; Kojima, Seiji; Ogawa, Seishi

    2013-03-01

    Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations that cause CMTP, in which a dominant mode of transmission had been suspected but for which no known responsible mutations have been documented. In 13 Japanese CMTP-affected pedigrees, we identified six (46%) affected by ACTN1 variants cosegregating with CMTP. In the entire cohort, ACNT1 variants accounted for 5.5% of the dominant forms of CMTP cases and represented the fourth most common cause in Japanese individuals. Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. ACTN1 encodes α-actinin-1, a member of the actin-crosslinking protein superfamily that participates in the organization of the cytoskeleton. In vitro transfection experiments in Chinese hamster ovary cells demonstrated that altered α-actinin-1 disrupted the normal actin-based cytoskeletal structure. Moreover, transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes, resulting in the production of abnormally large proplatelet tips, which were reduced in number. Our findings provide an insight into the pathogenesis of CMTP.

  5. Chromosomal abnormalities in the newborn period.

    PubMed

    Seashore, M R

    1993-10-01

    Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. While some of the syndromes can be suspected on clinical grounds, the clinician will need to have a high index of suspicion based on the presence of multiple abnormalities that cannot be accounted for by other causes. Chromosome analysis should be performed promptly in these cases. Cultured lymphocytes are the standard preparation at present. However, new non-isotopic hybridization techniques are becoming available that allow analysis of interphase cells, and these may become more widely used as clinical experience with them is gained. Prognosis can usually be better defined once the chromosome analysis is complete. The information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives. Empathetic counseling of the parents and family must be provided once the diagnosis is known. It must take into account the knowledge the chromosome analysis provides, be respectful of the parent's need for support, and be accurate as to prognosis of the condition diagnosed. When Down syndrome and Turner syndrome have been diagnosed, care must be taken to emphasize the positive aspects of the prognosis. When a chromosomal abnormality with an extremely poor prognosis is identified, support for withdrawal of medical intervention must be sensitively provided. The diagnosis and care of an infant with a chromosomal abnormality will challenge all of the pediatrician's diagnostic, therapeutic, and communication skills.

  6. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  7. Comparison of miconazole-coated tampons with clotrimazole vaginal tablets in the treatment of vaginal candidosis.

    PubMed

    Balsdon, M J

    1981-08-01

    The effectiveness and acceptability of miconazole-coated tampons were compared with those clotrimazole vaginal tablets in the treatment of vaginal candidosis in 100 women. Both treatments were highly effective in reducing the signs and symptoms of infection; 95% of the group treated with miconazole had negative culture results for Candida species immediately after treatment compared with 86% of those treated with clotrimazole. A 17.6% recurrence rate of positive culture results was found four weeks later in the miconazole-treated group compared with that of 30% in the clotrimazole-treated group. The miconazole tampons were highly acceptable to patients. Vaginal pH values did not differ significantly between those patients with candidosis and those treated and cured. Corynebacterium vaginale (Gardnerella vaginalis) vaginitis and nonspecific genital infection were common complicating factors during follow up.

  8. [Advances in prenatal diagnosis of congenital heart diseases].

    PubMed

    Muner-Hernando, Marta; Gil-Mira, Mar; Zapardiel, Ignacio

    2013-06-01

    Congenital heart diseases are the most frequent abnormalities at the time of delivery. Their importance lays in the fact that they represent 46% of neonatal deaths and they are cause of a high morbidity rate. However, an early diagnosis is difficult. The aim of this revision is to give an update on the advances in the prenatal diagnosis of congenital heart diseases and their advantages compared to conventional sonography. The introduction of new technology in the detection of congenital heart diseases has improved the acquisition of better images in terms of resolution and quality. However, there is a lack of large studies to prove its benefits in non-selected population, although preliminary studies seem to give faithful results.

  9. Aortic dilatation and aortopathy in congenital heart diseases.

    PubMed

    Zanjani, Keyhan Sayadpour; Niwa, Koichiro

    2013-01-01

    Longer survival after corrective surgery for congenital heart diseases has rendered late complications more important. One of these complications is aortic dilatation which may occur in patients with repaired or unrepaired disease and can progress to aneurysm, dissection, and rupture. This aortic dilatation in various congenital heart diseases does not simply mean anatomical dilatation of the aortic root, but it closely relates to the aortic pathophysiological abnormality, aortic regurgitation, and aortic and ventricular dysfunction; therefore, we can recognize this complex lesion as a new concept: "aortopathy". The pathophysiology of this disease is complex and only partially understood. In this review, we first discuss history, pathophysiology, and clinical features of aortic dilatation and aortopathy of congenital heart disease. Then we provide a review of the evaluation and management of this disease.

  10. Efficacy of bipolar release in neglected congenital muscular torticollis patients.

    PubMed

    Seyhan, Nevra; Jasharllari, Lorenc; Keskin, Mustafa; Savacı, Nedim

    2012-06-01

    Surgical correction of the congenital muscular torticollis (CMT) is recommended for patients with unsuccessful conservative treatment. The aim of this study is to evaluate the efficacy of surgical release of congenital muscular torticollis in neglected cases. We retrospectively evaluated the data of our patients in terms of age, sex, clinical presentation, localization of the lesion, diagnostic tests, and additional abnormalities. The age at operation ranged from 6 to 23 years. Complete muscular release as determined by pre-operative and postoperative range of motion measurements was achieved in all of the patients by bipolar release. In this study, neck motion and head tilt showed marked improvement with surgical treatment in cases with CMT who were admitted to the hospital lately. Congenital muscular torticollis patients can benefit from surgical intervention above the age of 5. Bipolar release is an adequate and complication-free method.

  11. 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.

  12. Amaurosis fugax associated with congenital vascular defect

    PubMed Central

    Giltner, John W; Thomas, Edward R; Rundell, William K

    2016-01-01

    A 68-year-old female with no significant past medical history presented with loss of vision in the lower half of her left eye that lasted <5 minutes. No abnormalities were found on ocular or physical exam. Computed tomography angiography and carotid ultrasound were performed, which confirmed the diagnosis as amaurosis fugax with two abnormalities leading to the transient retinal vessel occlusion. First, it was found that the patient has a congenital vascular anomaly, which consisted most notably of a right-sided aortic arch. This vascular anomaly also consisted of abnormal branching of the left subclavian and common carotid arteries, predisposing the patient to turbulent blood flow and increased risk of the formation of an atherosclerotic plaque at the origin of the common carotid artery. This is an abnormal location for a plaque leading to amaurosis fugax compared to the most common location at the carotid bifurcation. Endarterectomy was not performed because of the difficult location of the plaque and tortuosity of the vessel. Rather, medical intervention with antiplatelet and lipid-lowering therapy was initiated to lower the risk of future retinal or cerebral thromboembolic events. PMID:27445507

  13. Secretory Aspartyl Proteinases Cause Vaginitis and Can Mediate Vaginitis Caused by Candida albicans in Mice

    PubMed Central

    Pericolini, Eva; Gabrielli, Elena; Amacker, Mario; Kasper, Lydia; Roselletti, Elena; Luciano, Eugenio; Sabbatini, Samuele; Kaeser, Matthias; Moser, Christian; Hube, Bernhard; Vecchiarelli, Anna

    2015-01-01

    ABSTRACT Vaginal inflammation (vaginitis) is the most common disease caused by the human-pathogenic fungus Candida albicans. Secretory aspartyl proteinases (Sap) are major virulence traits of C. albicans that have been suggested to play a role in vaginitis. To dissect the mechanisms by which Sap play this role, Sap2, a dominantly expressed member of the Sap family and a putative constituent of an anti-Candida vaccine, was used. Injection of full-length Sap2 into the mouse vagina caused local neutrophil influx and accumulation of the inflammasome-dependent interleukin-1β (IL-1β) but not of inflammasome-independent tumor necrosis factor alpha. Sap2 could be replaced by other Sap, while no inflammation was induced by the vaccine antigen, the N-terminal-truncated, enzymatically inactive tSap2. Anti-Sap2 antibodies, in particular Fab from a human combinatorial antibody library, inhibited or abolished the inflammatory response, provided the antibodies were able, like the Sap inhibitor Pepstatin A, to inhibit Sap enzyme activity. The same antibodies and Pepstatin A also inhibited neutrophil influx and cytokine production stimulated by C. albicans intravaginal injection, and a mutant strain lacking SAP1, SAP2, and SAP3 was unable to cause vaginal inflammation. Sap2 induced expression of activated caspase-1 in murine and human vaginal epithelial cells. Caspase-1 inhibition downregulated IL-1β and IL-18 production by vaginal epithelial cells, and blockade of the IL-1β receptor strongly reduced neutrophil influx. Overall, the data suggest that some Sap, particularly Sap2, are proinflammatory proteins in vivo and can mediate the inflammasome-dependent, acute inflammatory response of vaginal epithelial cells to C. albicans. These findings support the notion that vaccine-induced or passively administered anti-Sap antibodies could contribute to control vaginitis. PMID:26037125

  14. Vaginal Lacerations from Consensual Intercourse in Adolescents

    ERIC Educational Resources Information Center

    Frioux, Sarah M.; Blinman, Thane; Christian, Cindy W.

    2011-01-01

    Objective: (1) To describe lacerations of the vaginal fornices, an injury known to be associated with consensual sexual intercourse, including known complications and treatment course, (2) to contrast these injuries with injuries sustained during sexual assault, and (3) to discuss the assessment of adolescent patients for sexual injuries. Methods:…

  15. In Vitro Activity of Tea Tree Oil Vaginal Suppositories against Candida spp. and Probiotic Vaginal Microbiota.

    PubMed

    Di Vito, Maura; Mattarelli, Paola; Modesto, Monica; Girolamo, Antonietta; Ballardini, Milva; Tamburro, Annunziata; Meledandri, Marcello; Mondello, Francesca

    2015-10-01

    The aim of this work is to evaluate the in vitro microbicidal activity of vaginal suppositories (VS) containing tea tree oil (TTO-VS) towards Candida spp. and vaginal probiotics. A total of 20 Candida spp. strains, taken from patients with vaginitis and from an established type collection, including reference strains, were analysed by using the CLSI microdilution method. To study the action of VS towards the beneficial vaginal microbiota, the sensitivity of Bifidobacterium animalis subsp. lactis (DSM 10140) and Lactobacillus spp. (Lactobacillus casei R-215 and Lactobacillus acidophilus R-52) was tested. Both TTO-VS and TTO showed fungicidal activity against all strains of Candida spp. whereas placebo-VS or the Aloe gel used as controls were ineffective. The study of fractional fungicidal concentrations (FFC) showed synergistic interaction with the association between Amphotericin B and TTO (0.25 to 0.08 µg/ml, respectively) against Candida albicans. Instead, the probiotics were only affected by TTO concentration ≥ 4% v/v, while, at concentrations < 2% v/v, they remained viable. TTO-VS exhibits, in vitro, a selective fungicidal action, slightly affecting only the Bifidobacteriun animalis strain growth belonging to the vaginal microbiota. In vivo studies are needed to confirm the efficacy to prevent acute or recurrent vaginal candidiasis. PMID:26235937

  16. In Vitro Activity of Tea Tree Oil Vaginal Suppositories against Candida spp. and Probiotic Vaginal Microbiota.

    PubMed

    Di Vito, Maura; Mattarelli, Paola; Modesto, Monica; Girolamo, Antonietta; Ballardini, Milva; Tamburro, Annunziata; Meledandri, Marcello; Mondello, Francesca

    2015-10-01

    The aim of this work is to evaluate the in vitro microbicidal activity of vaginal suppositories (VS) containing tea tree oil (TTO-VS) towards Candida spp. and vaginal probiotics. A total of 20 Candida spp. strains, taken from patients with vaginitis and from an established type collection, including reference strains, were analysed by using the CLSI microdilution method. To study the action of VS towards the beneficial vaginal microbiota, the sensitivity of Bifidobacterium animalis subsp. lactis (DSM 10140) and Lactobacillus spp. (Lactobacillus casei R-215 and Lactobacillus acidophilus R-52) was tested. Both TTO-VS and TTO showed fungicidal activity against all strains of Candida spp. whereas placebo-VS or the Aloe gel used as controls were ineffective. The study of fractional fungicidal concentrations (FFC) showed synergistic interaction with the association between Amphotericin B and TTO (0.25 to 0.08 µg/ml, respectively) against Candida albicans. Instead, the probiotics were only affected by TTO concentration ≥ 4% v/v, while, at concentrations < 2% v/v, they remained viable. TTO-VS exhibits, in vitro, a selective fungicidal action, slightly affecting only the Bifidobacteriun animalis strain growth belonging to the vaginal microbiota. In vivo studies are needed to confirm the efficacy to prevent acute or recurrent vaginal candidiasis.

  17. Vaginal Lactobacillus: biofilm formation in vivo - clinical implications.

    PubMed

    Ventolini, Gary

    2015-01-01

    Vaginal lactobacilli provide protection against intrusive pathogenic bacteria. Some Lactobacillus spp. produce in vitro a thick, protective biofilm. We report in vivo formation of biofilm by vaginal Lactobacillus jensenii. The biofilm formation was captured in fresh wet-mount microscopic samples from asymptomatic patients after treatment for recurrent bacterial vaginitis. In vivo documentation of biofilm formation is in our opinion noteworthy, and has significant clinical implications, among which are the possibility to isolate, grow, and therapeutically utilize lactobacilli to prevent recurrent vaginal infections and preterm labor associated with vaginal microbial pathogens. PMID:25733930

  18. Vaginal Douching Among Latinas: Practices and Meaning

    PubMed Central

    Baquero, María; Anderson, Matthew R.; Alvarez, Adelyn; Karasz, Alison

    2009-01-01

    Objectives Vaginal douching is widely practiced by American women, particularly among minority groups, and is associated with increased risk of pelvic and vaginal infections. This research sought to investigate vaginal hygiene practices and meaning associated with them among Latina women and adolescents. Study results would guide development of an intervention to decrease douching among Latinas. Methods In depth qualitative interviews conducted with English- and Spanish-speaking women aged 16–40, seeking care for any reason who reported douching within the last year (n = 34). Interviews were audiotaped, transcribed and analyzed using qualitative methods. One-third of interviews were conducted in Spanish. Results Two explanatory models for douching motives emerged: one stressed cosmetic benefits; the other, infection prevention and control. Most women reported douching to eliminate menstrual residue; a small number reported douching in context of sexual intercourse or vaginal symptoms. Many were unaware of associated health risks. Respondents typically learned about douching from female family members and friends. Male partners were described as having little to no involvement in the decision to douche. Women varied in their willingness to stop douching. Two-thirds reported receiving harm reduction messages about “overdouching”. About half indicated previous discussion about douching with health care providers; some had reduced frequency in response to counseling. A number of previously unreported vaginal hygiene practices and products were described, including use of a range of traditional hygiene practices, and products imported from outside the US. Conclusions Respondents expressed a range of commitment to douching. Counseling messages acknowledging benefits women perceive as well as health risks should be developed and delivered tailored to individual beliefs. Further research is needed to assess prevalence and safety of previously unreported practices

  19. A Triad of Congenital Diaphragmatic Hernia, Meckel's Diverticulum, and Heterotopic Pancreas

    PubMed Central

    Mandhan, Parkash; Al Saied, Amer; Ali, Mansour J.

    2014-01-01

    Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development. PMID:24804135

  20. Atrophic Vaginitis in Breast Cancer Survivors: A Difficult Survivorship Issue

    PubMed Central

    Lester, Joanne; Pahouja, Gaurav; Andersen, Barbara; Lustberg, Maryam

    2015-01-01

    Management of breast cancer includes systematic therapies including chemotherapy and endocrine therapy can lead to a variety of symptoms that can impair the quality of life of many breast cancer survivors. Atrophic vaginitis, caused by decreased levels of circulating estrogen to urinary and vaginal receptors, is commonly experienced by this group. Chemotherapy induced ovarian failure and endocrine therapies including aromatase inhibitors and selective estrogen receptor modulators can trigger the onset of atrophic vaginitis or exacerbate existing symptoms. Symptoms of atrophic vaginitis include vaginal dryness, dyspareunia, and irritation of genital skin, pruritus, burning, vaginal discharge, and soreness. The diagnosis of atrophic vaginitis is confirmed through patient-reported symptoms and gynecological examination of external structures, introitus, and vaginal mucosa. Lifestyle modifications can be helpful but are usually insufficient to significantly improve symptoms. Non-hormonal vaginal therapies may provide additional relief by increasing vaginal moisture and fluid. Systemic estrogen therapy is contraindicated in breast cancer survivors. Continued investigations of various treatments for atrophic vaginitis are necessary. Local estrogen-based therapies, DHEA, testosterone, and pH-balanced gels continue to be evaluated in ongoing studies. Definitive results are needed pertaining to the safety of topical estrogens in breast cancer survivors. PMID:25815692

  1. [Vaginal hysterectomy following previous abdominal and gynecologic surgery].

    PubMed

    Draca, P; Vuleta, P; Miljković, S

    1976-01-01

    The authors analyse 125 cases of vaginal histerectomy (V.H.) preceded by vaginal and abdominal operations (15.3% of a total of 817 V.H.) There were 95 cases of previous abdominal operations and 30 cases of previous gynecological operations (19 vaginal and 11 abdominal). The most frequent previously performed vaginal operation was anterior and posterior colporrhaphy. The authors have come to the conclusion that neither previous abdominal nor previous gynecological surgical interventions make the carrying out of vaginal histerectomy more difficult. Only Doleris's operation, among abdominal ones, may represent a relative contraindication for V.H. In one case the authors had to complete the already started histerectomy abdominally owing to some technical difficulties. The authors maintain that it would be good to use vaginal histerectomy more frequently after previously applied gynecological, vaginal, and abdominal operations.

  2. Imaging findings in fetal diaphragmatic abnormalities.

    PubMed

    Alamo, Leonor; Gudinchet, François; Meuli, Reto

    2015-12-01

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. PMID:26255159

  3. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  4. Congenital idiopathic clubfoot deformities.

    PubMed

    Kyzer, S P; Stark, S L

    1995-03-01

    Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment. PMID:7778903

  5. Congenital lipodystrophies and dyslipidemias.

    PubMed

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  6. Visual outcome in children with congenital hemiplegia: correlation with MRI findings.

    PubMed

    Mercuri, E; Spanò, M; Bruccini, G; Frisone, M F; Trombetta, J C; Blandino, A; Longo, M; Guzzetta, F

    1996-08-01

    Fourteen children with congenital hemiplegia were studied with a detailed assessment of various aspects of vision (linear acuity, stereopsis, visual fields) and MRI. The aim of this study was to evaluate the effect of a congenital lesion on visual function. The results showed a very high incidence (78%) of children who had abnormal results on at least one of the visual tests. Visual abnormalities were not correlated with the clinical severity of hemiplegia or with a specific pattern of lesion on MRI. Similarly no constant association could be found between visual structures (optic radiations and primary visual cortex) and visual function. Finally, our results would suggest that all the children with congenital hemiplegia need to be investigated irrespective of the clinical severity or of the type or the extent of the lesion. This would help to identify children with minor visual abnormalities which can affect everyday life performance. PMID:8892366

  7. Pulmonary Arterial Hypertension Associated with Congenital Portosystemic Shunts Treated with Transcatheter Embolization and Pulmonary Vasodilators.

    PubMed

    Sato, Haruka; Miura, Masanobu; Yaoita, Nobuhiro; Yamamoto, Saori; Tatebe, Shunsuke; Aoki, Tatsuo; Satoh, Kimio; Ota, Hideki; Takase, Kei; Sugimura, Koichiro; Shimokawa, Hiroaki

    2016-01-01

    Cardiopulmonary abnormalities are often present in patients with liver diseases. We herein report a case of congenital portosystemic shunts complicated by hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PoPH). A 57-year-old woman complained of dyspnea and was subsequently diagnosed with HPS and PoPH caused by congenital portosystemic shunts. Although shunt closure by transcatheter embolization was successfully performed, her dyspnea worsened and pulmonary artery pressure and pulmonary vascular resistance elevated. Conventional vasodilator therapy was started, resulting in an improvement of pulmonary hypertension (PH). In some patients with congenital portosystemic shunts, shunt closure could exacerbate PH, and vasodilator therapy may be effective. PMID:27580545

  8. Congenital brachymetatarsia: three cases.

    PubMed

    Ferrández, L; Yubero, J; Usabiaga, J; Ramos, L

    1993-01-01

    We report on three cases with congenital brachymetatarsia, one with bilateral affectation, together with the results of a lengthening of the short metatarsal bones by progressive axial distraction using an external minifixator. The method proved to be easy to implement, permitting immediate functionality of the ankle and early load bearing. The immediate results (cosmetic) and later findings (functional) were excellent in all three cases. PMID:8314189

  9. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  10. Congenital and acquired perilymph fistula: review of the literature.

    PubMed

    Roman, S; Bourliere-Najean, B; Triglia, J M

    1998-08-01

    Perilymph fistula is caused by an abnormal communication between the perilymph space and the middle ear. The etiology is either congenital or acquired. The congenital fistula can be associated or not with clinical symptoms or radiologically detectable abnormalities of the temporal bone. In patients presenting congenital fistula without symptoms or radiologically detectable abnormalities, little malformations of the middle ear may be detected during surgery. The acquired fistula can be caused by iatrogenic trauma, physical injury or erosion. As far as therapy is concerned, surgical treatment can be performed and the perilymph fistula thus represents one of the few causes of sensorineural hearing loss that can be treated surgically. However, the main challenge is the identification of those patients that need to undergo an exploratory tympanotomy, since there are no clinical-audiologic symptoms or radiographic indicators that can be considered pathognomonic of perilymph fistula. The aim of this review of the literature is to define the guidelines for preoperative diagnosis to indicate exploratory tympanotomy both in children and in adults. On the basis of our results, exploratory tympanotomy should be performed in patients with vertigo and/or progressive, sudden or fluctuating hearing loss in association with one or more than one of the following elements: a history of cranial trauma, radiographically detectable abnormalities of the inner ear, congenital malformations of the head, recurring meningitis, positive fistula test. The surgical treatment consists in placing a graft of temporalis fascia or tragal perichondrium and it usually results in a significant improvement of vestibular symptoms and sometimes of the hearing function as well.

  11. 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

  12. Mutations in TPM2 and congenital fibre type disproportion.

    PubMed

    Clarke, Nigel F; Waddell, Leigh B; Sie, Lilian T L; van Bon, Bregje W M; McLean, Catriona; Clark, Damian; Kornberg, Andrew; Lammens, Martin; North, Kathryn N

    2012-11-01

    The main diagnostic feature of congenital fibre type disproportion is that type 1 fibres are consistently smaller than type 2 fibres in the absence of other histological abnormalities. Mutations in the TPM3, RYR1 and ACTA1 genes are the most common established genetic causes. There has been one previous report of congenital fibre type disproportion due to a mutation in TPM2, although some atypical histological features were present. We present two cases in which novel de novo missense mutations in TPM2 are associated with marked fibre size disproportion. The finding of typical histological changes of congenital fibre type disproportion in association with a p.Ser61Pro mutation confirms that TPM2 can cause typical congenital fibre type disproportion. Although not seen on light microscopy studies, protein inclusions typical of small 'caps' were found on electron microscopy in a second patient with a p.Ala155Val mutation in TPM2. This case emphasises the importance of electron microscopy in patients with presumed congenital fibre type disproportion, to exclude the presence of caps, nemaline bodies or minicores, which, if present, may be very helpful in guiding genetic analysis. PMID:22832343

  13. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  14. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  15. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  16. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.

    PubMed

    Scola, R H; Werneck, L C; Iwamoto, F M; Ribas, L C; Raskin, S; Correa Neto, Y

    2001-06-01

    We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

  17. The Comparison of Vaginal Cream of Mixing Yogurt, Honey and Clotrimazole on Symptoms of Vaginal Candidiasis

    PubMed Central

    Darvishi, Maryam; Jahdi, Fereshteh; Hamzegardeshi, Zeinab; Goodarzi, Saied; Vahedi, Mohsen

    2015-01-01

    Background: Vulvovaginal candidiasis is known as one of the most common fungal infection among women of reproductive age and considered as an important public health problem. In recent years, due to resistance to common antifungal medication, the use of traditional medicine of anti-fungal and herbal treatmentis increased. Therefore the objective of this study was to determine the effects of vaginal cream, mixture of yogurt and honey and comparing it with clotrimazole vaginal cream on symptoms of Vulvovaginal candidiasis in patients. Methods: In this randomized, triple blind clinical trial of 70 non-pregnant women infected with Candidalvulvovaginitis were placed in two groups of Vaginal cream mixed of yogurt and honey recipients (N = 35) and clotrimazole vaginal cream (N = 35). Both groups were treated for 7 days.At the beginning of study, Clinical and laboratory signs and symptoms were registered 7 and 14 days after treatment by questionnaire, observation formand secretions medium culture results. Data were analyzed by chi-square test, t test, McNemar tests through SPSS version 21. Significance level of 0.05 was considered. Results: The result of present study reveals the significant differences in symptom improvement of yogurt and honey, toward clotrimazole group (P < 0.05) and also Positive results of the first cultures (one week after treatment) in “yogurt and honey” and clotrimazole (20% versus 8.6%) and second time cultivation (14 days after treatment) (17.1% versus 8.6%) were similar and there was no significant differences between the two groups. (P > 0.05). Conclusion: This study indicated that the therapeutic effects of vaginal cream, yogurt and honey is not only similar with clotrimazole vaginal cream but is more effective in relieving some symptoms of vaginal candidiasis. Therefore, the use of this product can be suggested as an herbal remedy for candida infection treatment. PMID:26153168

  18. Congenital hemangiopericytoma: two case reports.

    PubMed

    Bosch, A M; Hack, W W; Ekkelkamp, S

    1998-03-01

    Congenital hemangiopericytoma is a rare tumor consisting of capillaries surrounded by pericytes. Only histologically can the tumor be distinguished from other vascular hamartomas. For a long time the congenital type was considered benign; however, metastases have recently been described. A histologic diagnosis of all soft-tissue sarcomas should be made. We describe two patients with congenital hemangiopericytomas in whom the diagnosis was not suspected until after histologic examination. Long-term follow-up is indicated.

  19. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  20. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  1. [Congenital developmental defects in children and environmental pollution].

    PubMed

    Reznik, B Ia; Minkov, I P; Kriven'kaia, M N; Prudkiĭ, V Ia; Kil'dyshova, A N; Minervina, S S

    1991-01-01

    In one of the southern regions of the Ukraine, analysis was made over the recent three years of the genetic monitoring data on the incidence and structure of congenital developmental abnormalities in the newborn as related to the status of environmental pollution (the content of dust, carbon black, carbon and nitrogen oxides, nitrogen and sulfur dioxides, hydrogen sulfide, formaldehyde, phenol, fluorine compounds in the atmospheric air; the content of toxic chemicals and pesticides in foods, soil, water and feeds) as well as to the radiation situation. In the region under study, areas with varying degree of environmental pollution were distinguished. That was mainly done in terms of the characteristics of the atmospheric air and (to a less degree) varying annual dose of external radiation on conversion to one inhabitant. Analysis of the genetic monitoring has demonstrated the prevalence of congenital abnormalities, in the genesis of which the mutation component was of paramount importance, to be significantly higher in an ecologically unsafe area. The data obtained can be used in the regional programs aimed at the improvement of the environment, a reduction of the influence of exogenous risk factors implicated in the formation of congenital developmental abnormalities in children.

  2. 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

  3. Familial Precocious Fetal Abnormal Cortical Sulcation.

    PubMed

    Frassoni, Carolina; Avagliano, Laura; Inverardi, Francesca; Spaccini, Luigina; Parazzini, Cecilia; Rustico, Maria Angela; Bulfamante, Gaetano; Righini, Andrea

    2016-08-01

    The development of the human cerebral cortex is a complex and precisely programmed process by which alterations may lead to morphological and functional neurological abnormalities. We report familial cases of prenatally diagnosed abnormal brain, characterized by aberrant symmetrical mesial oversulcation of the parietooccipital lobes, in fetuses affected by abnormal skeletal features. Fetal brain anomalies were characterized by prenatal magnetic resonance imaging at 21 weeks of gestation and histologically evaluated at 22 weeks. Histological examination added relevant information showing some focal cortical areas of micropoligyria and heterotopic extension of the cortical plate into the marginal zone beneath the cortical surface. Genetic analysis of the fetuses excluded FGFR3 mutations known to be related to skeletal dysplasia and aberrant symmetrical oversulcation in other brain areas (temporal lobes). Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality unrelated to FGFR3 mutations or related to other not described FGFR3 gene defects. Using magnetic resonance imaging, histopathology and molecular characterization we provide an example of a translational study of a rare and unreported brain congenital malformation. PMID:27177044

  4. The XXXXY Sex Chromosome Abnormality

    PubMed Central

    Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Chown, B.

    1962-01-01

    The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants. Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency. That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10 PMID:13969480

  5. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  6. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  7. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  8. Congenital spherocytic anemia

    MedlinePlus

    ... The defect results in an abnormal red blood cell membrane. The affected cells have a smaller surface area ... Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, ... HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and ...

  9. Murine models of vaginal trichomonad infections.

    PubMed

    Cobo, Eduardo R; Eckmann, Lars; Corbeil, Lynette B

    2011-10-01

    Trichomonas vaginalis and Tritrichomonas foetus cause common sexually transmitted infections in humans and cattle, respectively. Mouse models of trichomoniasis are important for pathogenic and therapeutic studies. Here, we compared murine genital infections with T. vaginalis and T. foetus. Persistent vaginal infection with T. foetus was established with 100 parasites but T. vaginalis infection required doses of 10(6), perhaps because of greater susceptibility to killing by mouse vaginal polymorphonuclear leukocytes. Infection with T. vaginalis persisted longest after combined treatment of mice with estrogen and dexamethasone, whereas infection was only short-lived when mice were given estrogen or dexamethasone alone, co-infected with Lactobacillus acidophilus, and/or pretreated with antibiotics. Infection rates were similar with metronidazole-resistant (MR) and metronidazole-sensitive (MS) T. vaginalis. High dose but not low dose metronidazole treatment controlled infection with MS better than MR T. vaginalis. These murine models will be valuable for investigating the pathogenesis and treatment of trichomoniasis. PMID:21976570

  10. [Tamoxifen and cervico-vaginal cytology].

    PubMed

    Ayoubi, J M; Monrozies, X; Ayoubi, F; Charasson, T; Reme, J M

    1994-04-01

    The impact of tamoxifen on the genital tract was assessed by cervico-vaginal cytology. Fifty two post-menopausal patients treated with tamoxifen for breast cancer were regularly monitored, with a pre-treatment reference smear showing a profoundly menopausal status, followed by an anual smear. Smears returned to a functional status in 44% of patients after 2 to 5 years treatment. The agonist effect of tamoxifen appears to be beyond any doubt, and responsible for certain adverse reactions. This should not bring into question the usefulness of the drug, but indicates the need for regular monitoring and, in the presence of a functional smear, further investigation by vaginal ultrasonography is essential in order to evaluate the status of the endometrium. PMID:8036383

  11. 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.

  12. Ultra-low-dose vaginal estrogen tablets for the treatment of postmenopausal vaginal atrophy.

    PubMed

    Simon, J A; Maamari, R V

    2013-08-01

    Vaginal atrophy is a common chronic condition affecting up to 57% of postmenopausal women. The decrease in estrogen following cessation of menses can lead to bothersome symptoms that include vaginal dryness and irritation, pain and burning during urination (dysuria), urinary tract infections, and pain (dyspareunia) and bleeding during sexual activities. These symptoms can be safely and effectively managed with the use of local estrogen therapy, which reduces the risks associated with long-term systemic hormone therapy. The ultra-low-dose 10 μg estradiol vaginal tablet is the lowest approved dose available and has an annual estradiol exposure of only 1.14 mg. Its development addresses recommendations from regulatory agencies and women's health societies regarding the use of the lowest hormonal dose. The 10 μg vaginal tablet displays minimal estradiol absorption, causes no increased risk of endometrial hyperplasia or carcinoma, and provides significant symptom relief. The clinical evidence presented here may offer greater reassurance to health-care professionals and postmenopausal women that vaginal atrophy can be treated safely and effectively.

  13. Relationship among vaginal palpation, vaginal squeeze pressure, electromyographic and ultrasonographic variables of female pelvic floor muscles

    PubMed Central

    Pereira, Vanessa S.; Hirakawa, Humberto S.; Oliveira, Ana B.; Driusso, Patricia

    2014-01-01

    Background: The proper evaluation of the pelvic floor muscles (PFM) is essential for choosing the correct treatment. Currently, there is no gold standard for the assessment of female PFM function. Objective: To determine the correlation between vaginal palpation, vaginal squeeze pressure, and electromyographic and ultrasonographic variables of the female PFM. Method: This cross-sectional study evaluated 80 women between 18 and 35 years of age who were nulliparous and had no pelvic floor dysfunction. PFM function was assessed based on digital palpation, vaginal squeeze pressure, electromyographic activity, bilateral diameter of the bulbocavernosus muscles and the amount of bladder neck movement during voluntary PFM contraction using transperineal bi-dimensional ultrasound. The Pearson correlation was used for statistical analysis (p<0.05). Results: There was a strong positive correlation between PFM function and PFM contraction pressure (0.90). In addition, there was a moderate positive correlation between these two variables and PFM electromyographic activity (0.59 and 0.63, respectively) and movement of the bladder neck in relation to the pubic symphysis (0.51 and 0.60, respectively). Conclusions: This study showed that there was a correlation between vaginal palpation, vaginal squeeze pressure, and electromyographic and ultrasonographic variables of the PFM in nulliparous women. The strong correlation between digital palpation and PFM contraction pressure indicated that perineometry could easily be replaced by PFM digital palpation in the absence of equipment. PMID:25372005

  14. Congenital joint laxity and dwarfism: A feed-associated congenital anomaly of beef calves in Canada

    PubMed Central

    Ribble, Carl S.; Janzen, Eugene D.; Proulx, Julien G.

    1989-01-01

    Five feeding trials were performed on three ranches to determine if a distinctive, recurring, congenital anomaly in beef calves was associated with feeding clover or grass silage without supplementation to pregnant cows overwinter. The anomaly, termed congenital joint laxity and dwarfism, was characterized at birth by generalized joint laxity, disproportionate dwarfism, and occasionally, superior brachygnathia. The anomaly had been documented for several consecutive years on these ranches and affected 2-46% of the calf crop. Pregnant cows were divided randomly into feeding groups, and the number of abnormal calves in each group was tabulated. Supplementation of the overwinter grass/clover silage diet with hay (2.5-4.5 kg/head/day) and rolled barley (0.75-1.5 kg/head/day) eliminated the problem. Supplementation of grain, without hay, was not as effective. Varying the proportions of grass and clover in the silage, and the age of the silage, did not alter the teratogenic potency of silage. Vitamin D3 supplementation did not reduce the risk of the condition. The definitive cause of congenital joint laxity and dwarfism was not determined. ImagesFigure 1.Figure 2. PMID:17423291

  15. [STUDY OF THE INFLUENCE OF MINERAL FERTILIZERS ON THE NEONATAL MORBIDITY RATE IN INFANTS WITH CONGENITAL MALFORMATIONS (CM) IN THE BELGOROD REGION].

    PubMed

    Verzilina, I N; Chumosov, M I; Evdokimov, V I

    2015-01-01

    Results of the performed study showed that the use of mineral fertilizers for crops increases the risk of morbidity in neonates with congenital malformations (CM). P-elevated levels of relative environmental risk is established for: anomalies of the musculoskeletal system, multiple congenital malformations, the CM as a whole. Maximum environmental risk in the conditions of high load offertilizers on farmland is established for congenital abnormalities of the development of reproductive system in newborn infants (RR = 2,76).

  16. Tooth - abnormal shape

    MedlinePlus

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... The appearance of normal teeth varies, especially the molars. ... conditions. Specific diseases can affect tooth shape, tooth ...

  17. [Saforelle - a new approach to treat vaginitis].

    PubMed

    Karamisheva, V; Nachev, A

    2015-01-01

    Infections of the vulva and vagina are one of the most common gynecological diseases. They can be determined by a variety of physical, chemical and biological factors. The main risk factors contributing to vaginitis are aerobic and anaerobic bacterias, fungal and viral infections, and irritants. Subjective complaints are pruritus, vulvar and/or perivulvar erytema and different in volume and characterization discharge. Excepting etiological treatment in most cases it is necessary to use additional agents, for example Saforelle.

  18. Comparison of detection methods for vaginal lactobacilli.

    PubMed

    Smidt, I; Kiiker, R; Oopkaup, H; Lapp, E; Rööp, T; Truusalu, K; Štšepetova, J; Truu, J; Mändar, R

    2015-01-01

    Vaginal lactobacilli offer protection against microbiota imbalance and genitourinary tract infections. We compared vaginal lactobacilli in 50 Estonian women of child-bearing age applying culture-based methods, quantitative PCR and next-generation sequencing (NGS). The culture-based methods found three different lactobacilli: Lactobacillus crispatus, Lactobacillus jensenii and Lactobacillus gasseri. Using NGS revealed the presence of L. crispatus in 76%, Lactobacillus iners in 52%, L. jensenii in 47% and L. gasseri in 33% of the samples. According to qPCR, L. iners was present in 67% and L. crispatus in 64% of the samples. The proportions of L. crispatus revealed by qPCR and NGS were in good correlation (R=0.79, P<0.001), while that of L. iners correlated poorly (R=0.13, P>0.05). Good concordance for L. crispatus was also found between the results of the culture-based method and qPCR. Finally, good overlap between the results of the culture-based method and NGS was revealed: in case of a positive NGS result for L. crispatus, the same species was isolated in 95% of samples. The corresponding percentages were 82% for L. jensenii and 86% for L. gasseri. Our data indicate fairly general concordance of the three methods for detecting vaginal lactobacilli, except for L. iners. This points out the importance of standardisation of techniques, and the respective studies should involve cultures applying a medium suitable for the fastidious L. iners. PMID:25869280

  19. Acr appropriateness Criteria management of vaginal cancer.

    PubMed

    Lee, Larissa J; Jhingran, Anuja; Kidd, Elizabeth; Cardenes, Higinia Rosa; Elshaikh, Mohamed A; Erickson, Beth; Mayr, Nina A; Moore, David; Puthawala, Ajmel A; Rao, Gautam G; Small, William; Varia, Mahesh A; Wahl, Andrew O; Wolfson, Aaron H; Yashar, Catheryn M; Yuh, William; Gaffney, David K

    2013-11-01

    Due to its rarity, treatment guidelines for vaginal cancer are extrapolated from institutional reports and prospective studies of cervical and anal cancer. An expert panel was convened to reach consensus on the selection of imaging and therapeutic modalities. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) used by the panel to rate the appropriateness of imaging and treatment procedures. In those instances where evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. Four variants were developed to represent clinical scenarios in vaginal cancer management. Group members reached consensus on the appropriateness of the pretreatment evaluation and therapeutic interventions. This article represents the consensus opinion of an expert panel and may be used to inform clinical recommendations in vaginal cancer management. PMID:24575547

  20. Expression of keratins in mouse vaginal epithelium.

    PubMed

    Gimenez-Conti, I B; Lynch, M; Roop, D; Bhowmik, S; Majeski, P; Conti, C J

    1994-05-01

    In the epithelium of the rodent vagina proliferation and differentiation are tightly regulated by ovarian hormones. Estrogens stimulate proliferation and squamous differentiation, whereas progesterone redirects differentiation to a mucus-secreting epithelium formed by goblet-like cells. In the present study, we used monospecific keratin antibodies to show the expression and distribution of keratins in SENCAR mouse vaginal epithelium in different stages of the estral cycle and in ovariectomized animals. In ovariectomized animals, the vaginal epithelium expressed K6, K8, K13 and K14, but not K1. After estrogen treatment, K1 was expressed. During proestrus and estrus, the keratin pattern was essentially identical to that observed in 17 beta-estradiol-stimulated animals. In contrast, during the progestational stages (metaestrus and diestrus) or after progesterone treatment of ovariectomized mice, the most relevant change was the loss of K1. Together, these results show that K1 expression is induced by estrogens in the vaginal epithelium. In contrast, K6, K8, K13 and K14 are constitutively expressed even when squamous differentiation is not observed.

  1. Comparison of detection methods for vaginal lactobacilli.

    PubMed

    Smidt, I; Kiiker, R; Oopkaup, H; Lapp, E; Rööp, T; Truusalu, K; Štšepetova, J; Truu, J; Mändar, R

    2015-01-01

    Vaginal lactobacilli offer protection against microbiota imbalance and genitourinary tract infections. We compared vaginal lactobacilli in 50 Estonian women of child-bearing age applying culture-based methods, quantitative PCR and next-generation sequencing (NGS). The culture-based methods found three different lactobacilli: Lactobacillus crispatus, Lactobacillus jensenii and Lactobacillus gasseri. Using NGS revealed the presence of L. crispatus in 76%, Lactobacillus iners in 52%, L. jensenii in 47% and L. gasseri in 33% of the samples. According to qPCR, L. iners was present in 67% and L. crispatus in 64% of the samples. The proportions of L. crispatus revealed by qPCR and NGS were in good correlation (R=0.79, P<0.001), while that of L. iners correlated poorly (R=0.13, P>0.05). Good concordance for L. crispatus was also found between the results of the culture-based method and qPCR. Finally, good overlap between the results of the culture-based method and NGS was revealed: in case of a positive NGS result for L. crispatus, the same species was isolated in 95% of samples. The corresponding percentages were 82% for L. jensenii and 86% for L. gasseri. Our data indicate fairly general concordance of the three methods for detecting vaginal lactobacilli, except for L. iners. This points out the importance of standardisation of techniques, and the respective studies should involve cultures applying a medium suitable for the fastidious L. iners.

  2. Triapine, Cisplatin, and Radiation Therapy in Treating Patients With Cervical Cancer or Vaginal Cancer

    ClinicalTrials.gov

    2014-04-21

    Recurrent Cervical Cancer; Recurrent Vaginal Cancer; Stage IB Cervical Cancer; Stage II Vaginal Cancer; Stage IIA Cervical Cancer; Stage IIB Cervical Cancer; Stage III Cervical Cancer; Stage III Vaginal Cancer; Stage IVA Cervical Cancer; Stage IVA Vaginal Cancer; Stage IVB Cervical Cancer; Stage IVB Vaginal Cancer; Therapy-related Toxicity

  3. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  4. 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

  5. Congenital granular cell epulis.

    PubMed

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  6. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  7. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  8. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  9. Structurally abnormal human autosomes

    SciTech Connect

    1993-12-31

    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  10. Isolated Vaginal Neurofibroma Presenting as Vaginal Wall Cyst: A Rare Case Report With Review of Literature.

    PubMed

    Nibhoria, Sarita; Kaur Tiwana, Kanwardeep; Kaur, Manmeet; Phutela, Richa

    2016-03-01

    Neurofibromas commonly involve peripheral nervous system. Isolated neurofibroma of vagina is very rare tumor and usually associated with Von Recklinghausen's disease. Vulva is the most frequent location of neurofibroma of genital tract followed by clitoris and labia. We present a rare case of neurofibroma of vaginal wall presented as vaginal cyst in a 52 year old female with no history of any other symptoms related to Recklinghausen's disease. Excision biopsy was done and on the histopathological examination non-encapsulated, well circumscribed mass composed of spindle shaped cells with wavy nuclei and bland nuclear chromatin was noted. Immunohistochemistry revealed strong positivity with S-100. PMID:27385974

  11. Isolated Vaginal Neurofibroma Presenting as Vaginal Wall Cyst: A Rare Case Report With Review of Literature

    PubMed Central

    Nibhoria, Sarita; Kaur Tiwana, Kanwardeep; Kaur, Manmeet; Phutela, Richa

    2016-01-01

    Neurofibromas commonly involve peripheral nervous system. Isolated neurofibroma of vagina is very rare tumor and usually associated with Von Recklinghausen’s disease. Vulva is the most frequent location of neurofibroma of genital tract followed by clitoris and labia. We present a rare case of neurofibroma of vaginal wall presented as vaginal cyst in a 52 year old female with no history of any other symptoms related to Recklinghausen’s disease. Excision biopsy was done and on the histopathological examination non-encapsulated, well circumscribed mass composed of spindle shaped cells with wavy nuclei and bland nuclear chromatin was noted. Immunohistochemistry revealed strong positivity with S-100. PMID:27385974

  12. Morphological abnormalities among lampreys

    USGS Publications Warehouse

    Manion, Patrick J.

    1967-01-01

    The experimental control of the sea lamprey (Petromyzon marinus) in the Great Lakes has required the collection of thousands of lampreys. Representatives of each life stage of the four species of the Lake Superior basin were examined for structural abnormalities. The most common aberration was the presence of additional tails. The accessory tails were always postanal and smaller than the normal tail. The point of origin varied; the extra tails occurred on dorsal, ventral, or lateral surfaces. Some of the extra tails were misshaped and curled, but others were normal in shape and pigment pattern. Other abnormalities in larval sea lampreys were malformed or twisted tails and bodies. The cause of the structural abnormalities is unknown. The presence of extra caudal fins could be genetically controlled, or be due to partial amputation or injury followed by abnormal regeneration. Few if any lampreys with structural abnormalities live to sexual maturity.

  13. [Congenital cervical agenesis: pregnancy after transmyometrial embryo transfer].

    PubMed

    Huberlant, S; Tailland, M-L; Poirey, S; Mousty, E; Ripart-Neveu, S; Mares, P; de Tayrac, R

    2014-09-01

    Cervical agenesis is a rare congenital pathology linked to an anomaly of development of the Mullerian system. We described a case report about a 22-year old woman, consulting for infertility, who had a complete cervical agenesis. The first evaluation suggested a 46 XX karyotype and a normal ovarian reserve. The surgical examination confirmed the absence of cervix with impossibility of catheterization. She became pregnant thanks to an in vitro fertilization (IVF) with transmyometrial embryo transfer. Caesarean was decided at 36 weeks of gestation (WG) due to spontaneous uterine contractions. An injection of medroxyprogesterone was made after the placenta delivery in order to warning the partum hemorrhage. The ultrasound examination, realized 15 days after caesarean, underlined a good uterine involution. The surgery by cervico-vaginal anastomosis can be offered to patients because it offers chances of spontaneous pregnancies. But this surgery exposes women to a risk of failure, and of severe complications such as pain or infection, and might end in a hysterectomy. By choosing the transmyometrial transfer by vaginal way, the patient was exposed to the risk of spontaneous miscarriage. It was raising the problem of the uterine evacuation. This delivery after 34 WG is encouraging for the infertility by cervical agenesis.

  14. Systemic Effects of Vaginally Administered Estrogen Therapy: A Review

    PubMed Central

    Krause, Megan; Wheeler, Thomas L.; Richter, Holly E.; Snyder, Thomas E.

    2015-01-01

    Hormone Therapy (HT) was considered the standard of care prior to the publication of the Women’s Health Initiative (WHI). After the study was published, the use of systemic HT dramatically decreased resulting in an increased incidence of menopausal symptoms such as hot flashes, vaginal dryness and dyspareunia experienced by women. Use of vaginal estrogen offers women a unique alternative for relief of these symptoms. This article reviews the systemic effects of vaginally administered estrogen. Effects on serum hormone levels, vasomotor symptoms, lipid profiles and use in women with breast cancer are reviewed. An accompanying review examines the local effects of vaginally administered estrogen. PMID:22453284

  15. Vaginal Foreign Bodies and Child Sexual Abuse: An Important Consideration

    PubMed Central

    Closson, Forrest T.; Lichenstein, Richard

    2013-01-01

    Vaginal foreign bodies are a complaint occasionally encountered in pediatric clinics and emergency departments, and when pediatric patients present with a vaginal foreign body sexual abuse may not be considered. We describe two children with vaginal foreign bodies who were found to have been sexually abused. Each child had a discharge positive for a sexually transmitted infection despite no disclosure or allegation of abuse. We recommend that all pre-pubertal girls who present with a vaginal foreign body should be considered as possible victims of sexual abuse and should receive a sexual abuse history and testing for sexually transmitted infections. PMID:24106536

  16. Changing hysterectomy patterns after introduction of laparoscopically assisted vaginal hysterectomy.

    PubMed

    Harris, M B; Olive, D L

    1994-08-01

    Physicians reviewed the records of all 670 patients at Southeastern Regional Medical Center in Lumberton, North Carolina, who underwent hysterectomy during 1990-1992 to compare the differences between abdominal hysterectomies and laparoscopically assisted vaginal hysterectomy. The proportion of abdominal hysterectomies at the center fell considerably after introduction of laparoscopically assisted vaginal hysterectomy in 1992 (51.5% in 1990, 45.5% in 1991, and 35.6% in 1992; p = .0012). The proportion of unassisted vaginal hysterectomies did not change, however (e.g., 54.5% in 1991 and 54.3% in 1992). The mean length of stay was longer for abdominal hysterectomy patients than for unassisted and laparoscopically assisted vaginal hysterectomy patients (4.03 vs. 2.65 and 2.32 days, respectively; p = .0001). Hospital costs were significantly greater for laparoscopically assisted vaginal hysterectomy than for the other 2 hysterectomy methods ($11,931 vs. $7,031 for abdominal and $5343 unassisted vaginal; p = .0001). Increased operating time and charges for disposable staples and other instruments accounted for the increased costs. Laparoscopically assisted vaginal hysterectomy patients suffered complications at basically the same rate as the abdominal and unassisted vaginal hysterectomy groups (16% vs. 20% and 12%, respectively). These results suggest that even though laparoscopically assisted vaginal hysterectomy can reduce the number of patients who need to undergo laparotomy for a hysterectomy, the hospital costs are much greater for than the conventional method.

  17. Biliary amylase and congenital choledochal dilatation.

    PubMed

    Davenport, M; Stringer, M D; Howard, E R

    1995-03-01

    The relationship between levels of biliary amylase measured at operation and clinical features was studied in a series of 55 children with congenital biliary dilatation (choledochal cyst) who presented between 1976 and 1993. There were 36 cystic and 19 fusiforms dilatations in the series. The most common modes of presentation were painless jaundice (n = 23) and pancreatitis (n = 22). Five infants presented with abnormal antenatal ultrasound examinations. Children with pancreatitis were older than those with painless jaundice (4.2 versus 1.5 years; P = .005), and a higher proportion had raised levels of biliary amylase (100% versus 44%; P < .0001). There was no difference in the age at presentation (P = .32), clinical mode of presentation (P = .3), or the level of biliary amylase (P = .25) between cystic and fusiform dilatations. A correlation was found between age at surgery and biliary amylase in the cystic (rs = 0.55; P = .001) but not in the fusiform group (P = .22). All infants with antenatal diagnoses were cystic dilatations. Choledochal cystic dilatations that were diagnosed antenatally did not have significant amylase reflux, suggesting that the aetiology of this subgroup is truly congenital. Children who present at a later age with pancreatitis invariably have high levels of biliary amylase, which is presumed to occur because of a common channel and reflux of biliary and pancreatic secretions.

  18. Congenital anerythremic erythroleukemia presenting as hepatic failure.

    PubMed

    Lazure, Thierry; Beauchamp, Anne; Croisille, Laure; Ferlicot, Sophie; Feneux, Danielle; Fabre, Monique

    2003-10-01

    We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared 1 week later. During the next 5 weeks, no blasts were found in the blood, and less than 5% were found on 2 successive bone marrow aspirates. The infant died of hepatic failure. The suspected diagnosis on a premortem liver biopsy was confirmed by an autopsy that showed a blastic infiltration in many organs. These cells expressed only erythroid markers glycophorin A and C. Rearrangement of the myeloid lymphoid leukemia gene was not found by fluorescence in situ hybridization. The main differential diagnoses include metabolic diseases, Langerhans histiocytosis, Pepper syndrome, transient myeloproliferative disorder, and leukemoid reactions. Although some of these can be excluded by the pathologist, others require a multidisciplinary confrontation: clinical, biologic, genetic, and pathologic examinations. PMID:14521454

  19. Genetic Factors in Congenital Diaphragmatic Hernia

    PubMed Central

    Holder, A. M.; Klaassens, M.; Tibboel, D.; de Klein, A.; Lee, B.; Scott, D. A.

    2007-01-01

    Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH. PMID:17436238

  20. [Clinical aspects of congenital maxillofacial deformities].

    PubMed

    Sólya, Kitti; Dézsi, Csilla; Vanya, Melinda; Szabó, János; Sikovanyecz, János; Kozinszky, Zoltán; Szili, Károly

    2015-09-13

    The cleft lip and palate deformity is one of the most common type of congenital abnormalities. The aim of this paper is to summarise the literature knowledge about cleft lip and/or palate. The authors review and discuss international literature data on the prevention, genetic and environmental predisposing factors, anatomical and embryological features, as well as pre- and post-natal diagnosis and treatment of these deformities. The aetiology is multifactorial, driven by both genetic and environmental factors which lead to multifaceted phenotypes and clinical features of these malformations. The lack of the multidisciplinary knowledge about prenatal diagnosis, prevention, genetic aspects and treatment strategy could result in serious diagnostic errors, hence clinical teamwork is critically important to solve the problems of this pathology. Only the professional teamwork and multidisciplinary cooperation can guarantee the optimal level of health care and better quality of life for these patients and their families.

  1. Chronic Uterine Inversion Presenting as a Painless Vaginal Mass at 6 Months Post Partum: A Case Report.

    PubMed

    Ali, Eram; Kumar, Manisha

    2016-05-01

    Uterine inversion is an abnormal protrusion of internal surface of relaxed uterus through the vaginal orifice. Its causes can be broadly classified as puerperal and non-puerperal with puerperal uterine inversion more common than non-puerperal uterine inversion. Acute inversions occurring immediately, or within 24 hours post-partum are the most common type. Chronic Uterine Inversions (CUI) occurring more than four weeks after the delivery are rare identities. There differential diagnosis includes prolapsed fibroids and endometrial polyp. Chronic nature of these inversions makes the restoration of the normal position of the uterus per vaginal difficult contrary to acute inversions which can be reposited more easily. We hereby present a case of 28-year-old lady who presented with a painless vaginal mass at 6 months post-partum. She was diagnosed as a case of CUI based on clinical and sonographic examination. Inverted uterus was successfully restored through per abdominal approach. The presentation of CUI as a painless vaginal mass at delayed post-partum period is rare and therefore reported. PMID:27437313

  2. Chronic Uterine Inversion Presenting as a Painless Vaginal Mass at 6 Months Post Partum: A Case Report

    PubMed Central

    Kumar, Manisha

    2016-01-01

    Uterine inversion is an abnormal protrusion of internal surface of relaxed uterus through the vaginal orifice. Its causes can be broadly classified as puerperal and non-puerperal with puerperal uterine inversion more common than non-puerperal uterine inversion. Acute inversions occurring immediately, or within 24 hours post-partum are the most common type. Chronic Uterine Inversions (CUI) occurring more than four weeks after the delivery are rare identities. There differential diagnosis includes prolapsed fibroids and endometrial polyp. Chronic nature of these inversions makes the restoration of the normal position of the uterus per vaginal difficult contrary to acute inversions which can be reposited more easily. We hereby present a case of 28-year-old lady who presented with a painless vaginal mass at 6 months post-partum. She was diagnosed as a case of CUI based on clinical and sonographic examination. Inverted uterus was successfully restored through per abdominal approach. The presentation of CUI as a painless vaginal mass at delayed post-partum period is rare and therefore reported. PMID:27437313

  3. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  4. Congenital Cytomegalovirus Infection.

    PubMed

    Bale, James F.; Miner, Lonnie; Petheram, Susan J.

    2002-05-01

    Intrauterine infection with cytomegalovirus (CMV), a betaherpesvirus, remains the most frequent congenital virus infection in many regions of the world. Although most CMV-infected newborns lack signs of CMV infection, approximately 10% have signs that can consist of low birth weight, jaundice, hepatosplenomegaly, skin rash, microcephaly, and chorioretinitis. Neonates with signs of CMV infection at birth have high rates of audiologic and neurodevelopmental sequelae. Although postnatal therapy with ganciclovir transiently reduces virus shedding and may lessen the audiologic consequences of CMV in some infected infants, additional strategies are needed to prevent congenital CMV disease and to improve the neurodevelopmental prognosis of infants infected with CMV in utero. Some cases of intrauterine infections can be prevented in susceptible women by avoiding contact with the urine or saliva of young children who may be shedding CMV. Vaccines against CMV remain in the experimental stages of development. Termination of pregnancy can be offered to women whose infants have evidence of intrauterine CMV infection and sonographic signs of central nervous system damage. Infants who survive symptomatic intrauterine infections have high rates of neurodevelopmental sequelae and require comprehensive evaluation and therapy through center and home-based early intervention programs. PMID:11931729

  5. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review.

  6. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  7. Menstrual Disturbances in Women With Congenital Heart Diseases

    PubMed Central

    Khajali, Zahra; Ziaei, Soheila; Maleki, Majid

    2016-01-01

    Background Women with congenital heart disease (CHD) may experience menstrual disturbances secondary to hemodynamic instability during the mensturation phase. Objectives We investigated the menstrual bleeding pattern and its relationship with certain clinical findings in adult women with CHD. Patients and Methods Clinical data and menstrual bleeding pattern of adult women ≥15 years old who were referred to adult CHD clinic between March and September 2014 were recorded. Patients with syndromic congenital anomalies were excluded. Results Data of 304 women (151 and 153 with simple and complex CHD groups, respectively) were recorded. Their mean (SD) age was 25.2 (1) years (range, 15 - 46 years). The median (IQR) age at menarche was 13 (12 - 14.25) years. Menarche was later in patients with CHD than in the normal population. Furthermore, the simple group showed earlier menarche than the complex group. The most common menstrual abnormality was menorrhagia in both groups (14.5% and 20.5% in the simple and complex groups, respectively). The incidence of menstrual abnormality was higher, though not significantly, in the complex group (40% vs. 25% in the simple group; P = 0.2). Menorrhagia was associated with the severity of oxygen desaturation (P = 0.007). Conclusions Menstrual abnormalities are common in women with CHD, and therefore this group of patients should be aware of the menstrual function and its abnormalities. PMID:27800455

  8. GENOTYPE AND PHENOTYPE CORRELATIONS IN CONGENITAL GLAUCOMA

    PubMed Central

    Hollander, David A.; Sarfarazi, Mansoor; Stoilov, Ivaylo; Wood, Irmgard S.; Fredrick, Douglas R.; Alvarado, Jorge A.

    2006-01-01

    Purpose To determine whether there is a correlation among mutations in the cytochrome P450 1B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. Methods Direct DNA sequencing was utilized to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens of the anterior chamber angle obtained at trabeculectomy were examined histologically to identify abnormalities of the aqueous outflow pathway. CYP1B1 mutations were correlated with both the degree of angle dysgenesis and the patient’s disease severity (age at diagnosis, difficulty in achieving intraocular pressure control). Results Four of the six patients (66.7%) were compound heterozygotes for mutations in the CYP1B1 gene. Seven of the eight CYP1B1 mutations were identified, including two novel mutations (R117P, C209R) and five others previously described (G61E, R368H, R390H, E229K, 4340delG). The cases were divided based on histological phenotype into categories of (1) severe goniodysgenesis highlighted by the agenesis of Schlemm’s canal (two patients), (2) moderate goniodysgenesis characterized by the presence of a band of collagenous tissue in the trabecular meshwork and/or the juxtacanalicular tissues (three patients), and (3) mild goniodysgenesis with deposition of a mucopolysaccharide material in the juxtacanalicular tissue (one patient). CYP1B1 mutations were identified in both cases of severe angle dysgenesis and two of three cases of moderate dysgenesis. Disease severity closely correlated with the degree of angle dysgenesis. Conclusion The majority of cases in the cohort had compound heterozygous CYP1B1 mutations. Specific CYP1B1 mutations may be associated with severe or moderate angle abnormalities. PMID:17471339

  9. Low-dose vaginal estrogens or vaginal moisturizer in breast cancer survivors with urogenital atrophy: a preliminary study.

    PubMed

    Biglia, Nicoletta; Peano, Elisa; Sgandurra, Paola; Moggio, Giulia; Panuccio, Enrico; Migliardi, Marco; Ravarino, Nicoletta; Ponzone, Riccardo; Sismondi, Piero

    2010-06-01

    The study aim is to evaluate the efficacy and safety of two low-dose vaginal estrogen treatments (ETs) and of a non-hormonal vaginal moisturizer in postmenopausal breast cancer survivors with urogenital atrophy. Eighteen patients receiving estriol cream 0.25 mg (n = 10) or estradiol tablets 12.5 microg (n = 8) twice/week for 12 weeks were evaluated and compared with eight patients treated with polycarbophil-based moisturizer 2.5 g twice/week. Severity of vaginal atrophy was assessed using subjective [Vaginal Symptoms Score (VSS), Profile of Female Sexual Function (PFSF)] and objective [Vaginal Health Index (VHI), Karyopycnotic Index (KI)] evaluations, while safety by measuring endometrial thickness and serum sex hormones levels. After 4 weeks, VSS and VHI were significantly improved by both vaginal ETs, with further improvement after 12 weeks. PFSF improved significantly only in estriol group (p = 0.02). Safety measurements did not significantly change. Vaginal moisturizer improved VSS at week 4 (p = 0.01), but score returned to pre-treatment values at week 12; no significant modification of VHI, KI, PFSF was recorded. Both low-dose vaginal ET are effective for relieving urogenital atrophy, while non-hormonal moisturizer only provides transient benefit. The increase of serum estrogens levels during treatment with vaginal estrogen at these dosages is minimal.

  10. Congenital Heart Diseases in Adults: A Review of Echocardiogram Records in Enugu, South-East Nigeria

    PubMed Central

    Ejim, EC; Anisiuba, BC; Oguanobi, NI; Ubani-Ukoma, BC; Nwaneli, UC; Ugwu, C; Ike, SO

    2014-01-01

    Background: Congenital abnormalities of the heart and cardiovascular system are reported in almost 1% of live births, and about half of these children need medical or surgical help in infancy. In the first decade, a further 25% require surgery to maintain or improve their life. Only 10% survive to adolescence without treatment. Of these 10%, however, many live a normal life for years before their abnormality is discovered. Aim: The aim of this study was to find the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, and to determine whether there are any gender differences in frequency. Materials and Methods: The consecutive echocardiogram reports of 5058 adults done over a period of 9 years (2003-2012) were retrospectively reviewed. All adults who had congenital anomaly on transthoracic echocardiography were included in the study. Results: Congenital heart diseases were found in 115 adults representing 2.5% of the adult population (115/4539). The most common congenital anomalies were ventricular septal defects (VSD) - 31.3%, (36/115), atrial septal defects - 28.7% (33/115) and tetralogy of fallot - 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria. PMID:25221697

  11. Abnormal uterine bleeding.

    PubMed

    Jennings, J C

    1995-11-01

    Physicians who care for female patients cannot avoid the frequent complaint of abnormal uterine bleeding. Knowledge of the disorders that cause this problem can prevent serious consequences in many patients and improve the quality of life for many others. The availability of noninvasive and minimally invasive diagnostic studies and minimally invasive surgical treatment has revolutionized management of abnormal uterine bleeding. Similar to any other disorder, the extent to which a physician manages abnormal uterine bleeding depends on his or her own level of comfort. When limitations of either diagnostic or therapeutic capability are encountered, consultation and referral should be used to the best interest of patients.

  12. Vaginal epithelial cell anti-Candida albicans activity is associated with protection against symptomatic vaginal candidiasis.

    PubMed

    Barousse, Melissa M; Espinosa, Terri; Dunlap, Kathleen; Fidel, Paul L

    2005-11-01

    Vaginal epithelial cell (VEC) anti-Candida albicans activity, despite being measured in vitro, is considered an innate host defense mechanism. This was supported further by the fact that women protected from symptomatic infection following a live intravaginal Candida challenge had increased VEC anti-Candida activity compared to those who acquired a symptomatic infection.

  13. Vaginal microbiome of reproductive-age women.

    PubMed

    Ravel, Jacques; Gajer, Pawel; Abdo, Zaid; Schneider, G Maria; Koenig, Sara S K; McCulle, Stacey L; Karlebach, Shara; Gorle, Reshma; Russell, Jennifer; Tacket, Carol O; Brotman, Rebecca M; Davis, Catherine C; Ault, Kevin; Peralta, Ligia; Forney, Larry J

    2011-03-15

    The means by which vaginal microbiomes help prevent urogenital diseases in women and maintain health are poorly understood. To gain insight into this, the vaginal bacterial communities of 396 asymptomatic North American women who represented four ethnic groups (white, black, Hispanic, and Asian) were sampled and the species composition characterized by pyrosequencing of barcoded 16S rRNA genes. The communities clustered into five groups: four were dominated by Lactobacillus iners, L. crispatus, L. gasseri, or L. jensenii, whereas the fifth had lower proportions of lactic acid bacteria and higher proportions of strictly anaerobic organisms, indicating that a potential key ecological function, the production of lactic acid, seems to be conserved in all communities. The proportions of each community group varied among the four ethnic groups, and these differences were statistically significant [χ(2)(10) = 36.8, P < 0.0001]. Moreover, the vaginal pH of women in different ethnic groups also differed and was higher in Hispanic (pH 5.0 ± 0.59) and black (pH 4.7 ± 1.04) women as compared with Asian (pH 4.4 ± 0.59) and white (pH 4.2 ± 0.3) women. Phylotypes with correlated relative abundances were found in all communities, and these patterns were associated with either high or low Nugent scores, which are used as a factor for the diagnosis of bacterial vaginosis. The inherent differences within and between women in different ethnic groups strongly argues for a more refined definition of the kinds of bacterial communities normally found in healthy women and the need to appreciate differences between individuals so they can be taken into account in risk assessment and disease diagnosis.

  14. New immunotherapeutic strategies to control vaginal candidiasis.

    PubMed

    Magliani, Walter; Conti, Stefania; Cassone, Antonio; De Bernardis, Flavia; Polonelli, Luciano

    2002-03-01

    The widespread occurrence of mucosal infections caused by Candida, in particular recurrent vulvovaginal candidiasis among fertile-age women, together with the paucity of safe candidacidal antimycotics, have prompted a great number of investigations into the immunotherapy of candidal vaginitis. This article will discuss three different experimental approaches demonstrated to be potentially transferable to human disease: (1) the use of antibodies against well-defined cell-surface adhesins or enzymes; (2) the generation of yeast killer-toxin-like candidacidal anti-idiotypic antibodies and their engineered molecular derivatives (e.g. single chains, peptides); and (3) the generation of therapeutic vaccines and immunomodulators.

  15. "Jeopardy" in Abnormal Psychology.

    ERIC Educational Resources Information Center

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  16. Abnormal Uterine Bleeding

    MedlinePlus

    ... Abnormal uterine bleeding is any bleeding from the uterus (through your vagina) other than your normal monthly ... or fibroids (small and large growths) in the uterus can also cause bleeding. Rarely, a thyroid problem, ...

  17. Abnormal Uterine Bleeding FAQ

    MedlinePlus

    ... as cancer of the uterus, cervix, or vagina • Polycystic ovary syndrome How is abnormal bleeding diagnosed? Your health care ... before the fetus can survive outside the uterus. Polycystic Ovary Syndrome: A condition characterized by two of the following ...

  18. Factors Influencing Selection of Vaginal, Open Abdominal, or Robotic Surgery to Treat Apical Vaginal Vault Prolapse

    PubMed Central

    Anand, Mallika; Weaver, Amy L.; Fruth, Kristin M.; Gebhart, John B.

    2016-01-01

    Objectives To determine factors influencing selection of Mayo-McCall culdoplasty (MMC), open abdominal sacrocolpopexy (ASC), or robotic sacrocolpopexy (RSC) for posthysterectomy vaginal vault prolapse. Methods We retrospectively searched for the records of patients undergoing posthysterectomy apical vaginal prolapse surgery between January 1, 2000, and June 30, 2012, at our institution. Baseline characteristics and explicit selection factors were abstracted from the electronic medical records. Factors were compared between groups using χ2 tests for categorical variables, ANOVA for continuous variables, and Kruskal-Wallis tests for ordinal variables. Results Among the 512 patients identified who met inclusion criteria, the MMC group (n=174) had more patients who were older, American Society of Anesthesiologists class 3+ or greater, had anterior vaginal prolapse grade 3+, desired to avoid abdominal surgery, and did not desire a functional vagina. Patients in the ASC (n=237) and RSC (n=101) groups had more failed prolapse surgeries, suspected abdominopelvic pathologic processes, and chronic pain. Advanced prolapse was more frequently cited as an explicit selection factor for ASC than for either MMC or RSC. Conclusions The most common factors that influenced the type of apical vaginal vault prolapse surgery overlapped with characteristics that differed at baseline. In general, MMC was chosen for advanced anterior vaginal prolapse and baseline characteristics that increased surgical risks, ASC for advanced apical prolapse, and ASC or RSC for recurrent prolapse, suspected abdominal pathology, and patients with chronic pain or lifestyles including heavy lifting. Thus, efforts should be made to attempt to control for selection bias when comparing these procedures. PMID:26945273

  19. Congenital Heart Disease and Impacts on Child Development

    PubMed Central

    Mari, Mariana Alievi; Cascudo, Marcelo Matos; Alchieri, João Carlos

    2016-01-01

    Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months). Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001). The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042), child's age (P=0.001) and income per capita (P=0.019). Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up. PMID:27074272

  20. Congenital rubella syndrome: ophthalmic manifestations and associated systemic disorders.

    PubMed Central

    Givens, K T; Lee, D A; Jones, T; Ilstrup, D M

    1993-01-01

    Congenital rubella syndrome has a wide variety of severe ophthalmic and systemic complications. A worldwide rubella epidemic from 1963 to 1965 affected thousands of infants. This is a 20 year follow up study of patients with congenital rubella syndrome analysing the prevalence of ophthalmic disorders, associated systemic problems, and correlations among these defects. The authors statistically analysed 125 cases of congenital rubella seen in the Mayo clinic ophthalmology department over a 32 year interval. Most patients were young adults. Ocular disease was the most commonly noted disorder (78%), followed by sensorineural hearing deficits (66%), psychomotor retardation (62%), cardiac abnormalities (58%), and mental retardation (42%). Multiorgan disease was typical (88%). Ocular disease and hearing loss were frequently associated (53% had both) but not significantly correlated. A similar association existed between ocular and cardiac disease. Cataracts and microphthalmia were significantly correlated with poor visual acuity (each p < 0.0001). Glaucoma was significantly correlated with cataracts (p = 0.0002) and microphthalmia (p = 0.0024) but not poor visual acuity. Four patients with microphthalmia developed late onset glaucoma. No significant association was found between gestational age at time of maternal infection and the incidence of individual ocular conditions. However, several cardiac disorders were significantly associated with gestational age. Although new cases of congenital rubella are rare, surviving victims continue to challenge the ophthalmic and medical communities with a wide range of ocular and systemic disorders. PMID:8318483

  1. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  2. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  3. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  4. Congenital erythropoietic porphyria.

    PubMed

    Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T

    1998-01-01

    Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP. PMID:10343205

  5. Phenotypic abnormalities: terminology and classification.

    PubMed

    Merks, Johannes H M; van Karnebeek, Clara D M; Caron, Hubert N; Hennekam, Raoul C M

    2003-12-15

    Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [2001]; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination performed in patients, who have been treated for childhood cancer, may allow detection of concurrent patterns of anomalies and provide clues for causative genes. In the past, several studies were performed describing the prevalence of anomalies in patients with cancer. However, in most studies, it was not possible to indicate the biologic relevance of the recorded anomalies, or to judge their relative importance. Are the detected anomalies common variants, and should they thus be regarded as normal, or are they minor anomalies or true abnormalities, indicating a possible developmental cause? Classification of items in the categories of common variants (disturbances of phenogenesis with a prevalence >4%), minor anomalies (disturbances of phenogenesis with a prevalence abnormal physical findings by a nomenclature for errors of morphogenesis detectable on surface examination, and secondly a uniform classification system. This should allow investigators to evaluate systematically the presence of patterns in phenotypic anomalies, in the general population, and in patients with various disorders, suspected to be a developmental anomaly. Also

  6. Genome Sequences of 11 Human Vaginal Actinobacteria Strains

    PubMed Central

    Deitzler, Grace E.; Ruiz, Maria J.; Weimer, Cory; Park, SoEun; Robinson, Lloyd S.; Hallsworth-Pepin, Kymberlie; Wollam, Aye; Mitreva, Makedonka

    2016-01-01

    The composition of the vaginal microbiota is an important health determinant. Several members of the phylum Actinobacteria have been implicated in bacterial vaginosis, a condition associated with many negative health outcomes. Here, we present 11 strains of vaginal Actinobacteria (now available through BEI Resources) along with draft genome sequences. PMID:27688328

  7. [Vaginal ecology, climate, landscapes and populations (xenoecies and facies)].

    PubMed

    Nicoli, J M; Nourrit, J; Michel-Nguyen, A; Sempe, M; Nicoli, R M

    1994-06-01

    Brief study of vaginal populations, the human vagina being considered as a biotopic cavity. Allusion to dynamic aspects ("vaginal climate", "landscapes") and to various bacterial populations. Introduction of the concept of xenoecies and of facies. This study is preceded by essential definitions of terms widely used in ecology.

  8. Genome Sequences of 11 Human Vaginal Actinobacteria Strains.

    PubMed

    Lewis, Amanda L; Deitzler, Grace E; Ruiz, Maria J; Weimer, Cory; Park, SoEun; Robinson, Lloyd S; Hallsworth-Pepin, Kymberlie; Wollam, Aye; Mitreva, Makedonka; Lewis, Warren G

    2016-01-01

    The composition of the vaginal microbiota is an important health determinant. Several members of the phylum Actinobacteria have been implicated in bacterial vaginosis, a condition associated with many negative health outcomes. Here, we present 11 strains of vaginal Actinobacteria (now available through BEI Resources) along with draft genome sequences.

  9. Women's Psychological Adjustment Following Emergency Cesarean versus Vaginal Delivery.

    ERIC Educational Resources Information Center

    Padawer, Jill A.; And Others

    1988-01-01

    Investigated psychological adjustment and satisfaction in women who had given birth vaginally or by cesarean section. Cesarean mothers reported significantly less satisfaction with the delivery than did vaginal mothers; however no differences were found in postpartum psychological adjustment as measured by depression, anxiety, and confidence in…

  10. Genome Sequences of 11 Human Vaginal Actinobacteria Strains.

    PubMed

    Lewis, Amanda L; Deitzler, Grace E; Ruiz, Maria J; Weimer, Cory; Park, SoEun; Robinson, Lloyd S; Hallsworth-Pepin, Kymberlie; Wollam, Aye; Mitreva, Makedonka; Lewis, Warren G

    2016-01-01

    The composition of the vaginal microbiota is an important health determinant. Several members of the phylum Actinobacteria have been implicated in bacterial vaginosis, a condition associated with many negative health outcomes. Here, we present 11 strains of vaginal Actinobacteria (now available through BEI Resources) along with draft genome sequences. PMID:27688328

  11. [Physicopharmaceutical characteristics of ulinastatin vaginal suppositories prepared in a hospital].

    PubMed

    Satake, Kiyoshi; Nakajima, Takanori; Iwata, Masanori; Fujikake, Yoshio; Kimura, Masayuki

    2011-01-01

    We studied a locally applied vaginal preparation (vaginal suppositories) of ulinastatin (urinary trypsin inhibitor, UTI), designed to threatened premature delivery and maintain pregnancy. Witepsol S55 was chosen as the basic component of the vaginal suppositories based on the physical pharmaceutical characteristics of three kinds of hard fats. The average particle size of the UTI aqueous injection was approximately 70% as compared with that of the UTI lyophilized product, used as the base material for the preparation of UTI vaginal suppositories. We compared the physical pharmaceutical properties of UTI vaginal suppositories with water contents of 2.5%, 5.0%, and 7.5%, respectively. Preparation strength negatively correlated with the water content. The coefficient of viscosity positively correlated with the water content of the preparation. UTI vaginal suppositories with a water content of 5.0% had the highest average drug release rate on moment analysis. A comprehensive evaluation of the properties of UTI vaginal suppositories, including high strength due to disintegration resistance, the coefficient of viscosity and its influence on local retention, and drug release and its influence on the duration of effect, indicated that a 5.0% UTI aqueous solution for injection combined with Witepsol S55 as the base was the optimal formulation for the hospital preparation of vaginal suppositories. PMID:22041703

  12. Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

    PubMed

    A, Jain; P, Kumar; A, Jindal; Yk, Sarin

    2015-01-01

    Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

  13. Autopsy features in a newborn baby affected by a central congenital diaphragmatic hernia.

    PubMed

    Bolino, Giorgio; Gitto, Lorenzo; Serinelli, Serenella; Maiese, Aniello

    2015-03-01

    Congenital diaphragmatic hernia is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. The most common types of congenital diaphragmatic hernia are Bochdalek hernia (postero-lateral hernia), Morgagni hernia (anterior defect), and diaphragm eventration (abnormal displacement of part or all of an otherwise intact diaphragm into the chest cavity). Congenital diaphragmatic hernia is a life-threatening pathology in infants, and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. We present a fatal case of congenital diaphragmatic hernia in a newborn. At the autopsy, a central defect of the diaphragm was found, 8 × 5 cm in size, that led to a herniation of the small intestine, the right lobe of the liver, and the right adrenal gland into the thorax. An esophageal atresia was associated with the congenital diaphragmatic hernia. The lungs showed severe hypoplasia and atelectasia. Physicians should pay attention to a prenatal diagnosis of congenital diaphragmatic hernia in order to prevent newborn fatalities. PMID:25573226

  14. Plastic neo-vaginal construction in Mayer-Rokitansky-Küster-Hauser syndrome: an expert opinion paper on the decision-making treatment process

    PubMed Central

    Torres-de la Roche, Luz Angela; Devassy, Rajesh; Gopalakrishnan, Sreelatha; de Wilde, Maya Sophie; Herrmann, Anja; Larbig, Angelika; De Wilde, Rudy Leon

    2016-01-01

    Vaginal agenesis is a congenital anomaly that affects the life of one of each four thousand women around the world. There is a trend that patients request immediate surgical correction, instead of passive vaginal dilatation. Therefore a differentiated counselling should be provided. We present a comparative chart, based on published evidence, with aspect to the available techniques, which will facilitate the decision-making process in the clinical practice. From our point of view, the best results are achieved with techniques that combine the advantages of the minimal-invasive surgery with those derived of the use of peritoneum as covering tissue of the neovagina. Nevertheless there is a lack on interdisciplinary consensus about the best option to restore the physical and sexual quality of life. PMID:26904393

  15. Local Effects of Vaginally Administered Estrogen Therapy: A Review

    PubMed Central

    Krause, Megan; Wheeler, Thomas L.; Snyder, Thomas E.; Richter, Holly E.

    2011-01-01

    The results of the Women’s Health Initiative (WHI) led to a distinct decline in the routine use of estrogen as preventive therapy for vasomotor symptoms, osteoporosis, and cardiovascular disease in postmenopausal women. Without estrogen replacement, one third of women experience symptoms of atrophic vaginitis including dryness, irritation, itching and or dyspareunia. Local application of estrogen has been shown to relieve these symptoms and improve quality of life for these women. In addition, local estrogen therapy may have a favorable effect on sexuality, urinary tract infections, vaginal surgery, and incontinence. This review examines the effects of vaginally applied estrogen on the vaginal epithelium, urethra and endometrium. An accompanying review examines the systemic effects of vaginally applied estrogen. PMID:22229022

  16. Ultrasound assessment of the endometrium for irregular vaginal bleeding.

    PubMed

    McFarlin, Barbara L

    2006-01-01

    Irregular vaginal bleeding is a common symptom of women seeking gynecologic care. Etiologies of irregular vaginal bleeding can be classified into the following categories: pregnancy related (retained products of conception, threatened or missed abortion, or ectopic pregnancy), hormonal (disorders of ovulation, menopause, or hormonal contraceptive use), structural (polyps, myomas, or arteriovenous malformation), neoplasm (endometrial cancer), and infection (endometritis). After the history and physical examination, the initial evaluation of irregular vaginal bleeding has traditionally involved an endometrial biopsy. Transvaginal ultrasound has revolutionized the evaluation of the gynecologic ultrasound examination by providing a minimally invasive means to determine the etiology for the bleeding. Transvaginal ultrasound assessment of the endometrial cavity allows treatment to be tailored to the specific cause of irregular vaginal bleeding, thus saving women time, money, and exposure to unnecessary interventions. The purpose of this article is to give the clinician critical information regarding the capabilities of ultrasound to evaluate women with irregular vaginal bleeding.

  17. The role of fomites in the transmission of vaginitis.

    PubMed Central

    Andrew, D. E.; Bumstead, E.; Kempton, A. G.

    1975-01-01

    A role for fomites such as toilet seats in the transmission of vaginitis has never been proved or disproved. A compilation of clinical data from a university community showed that the organisms found in vaginal cultures of patients with vaginitis were, in order of frequency. Candida albicans, Escherichia coli, beta-hemolytic streptococci, Hemophilus vaginalis and Trichomonas vaginalis. In a concurrent bacteriologic survey of washroom fixtures, staphylococci and other micrococci were isolated most frequently. The overt pathogens associated with vaginitis were never found, and gram-negative organisms appeared to be suppressed by the disinfectant used by the cleaning staff. It is clear that fomites are not an important mode of transmission in vaginitis, although a search for specific pathogens on toilets is to be continued. PMID:1092449

  18. Mucoadhesive and thermogelling systems for vaginal drug delivery.

    PubMed

    Caramella, Carla M; Rossi, Silvia; Ferrari, Franca; Bonferoni, Maria Cristina; Sandri, Giuseppina

    2015-09-15

    This review focuses on two formulation approaches, mucoadhesion and thermogelling, intended for prolonging residence time on vaginal mucosa of medical devices or drug delivery systems, thus improving their efficacy. The review, after a brief description of the vaginal environment and, in particular, of the vaginal secretions that strongly affect in vivo performance of vaginal formulations, deals with the above delivery systems. As for mucoadhesive systems, conventional formulations (gels, tablets, suppositories and emulsions) and novel drug delivery systems (micro-, nano-particles) intended for vaginal administration to achieve either local or systemic effect are reviewed. As for thermogelling systems, poly(ethylene oxide-propylene oxide-ethylene oxide) copolymer-based and chitosan-based formulations are discussed as thermogelling systems. The methods employed for functional characterization of both mucoadhesive and thermogelling drug delivery systems are also briefly described.

  19. Observations of vaginal calculi in dolphins.

    PubMed

    Woodhouse, C D; Rennie, C J

    1991-07-01

    Vaginal calculi have been described from the common (Delphinus delphis), Pacific white-sided (Lagenorhynchus obliquidens) and spotted (Stenella attenuata) dolphins. We describe additional calculi found in six sexually mature D. delphis from southern California. Three calculi were large (ca. 7 x 5 cm), exhibited concentric layer crystallization, and were unique from previously published descriptions. One calculus described previously and one in our sample appeared to be a fetal skeleton and skull respectively. Using CAT scans of a first trimester northern right whale dolphin (Lissodelphis borealis) and of a near term Delphinus delphis, we discuss the potential origin and development of vaginal calculi through analysis of ossification in embryonic delphinids. We hypothesize that the calculi represented spontaneous incomplete abortion with retention of part or all of the fetus in the distal reproductive tract. The form of the calculus relates to the degree of skeletal development at the time of fetal death. Calculi from a pregnant dolphin provided one measure of residence time. PMID:1920661

  20. Efficacy and safety of a vaginal medicinal product containing three strains of probiotic bacteria: a multicenter, randomized, double-blind, and placebo-controlled trial

    PubMed Central

    Tomusiak, Anna; Strus, Magdalena; Heczko, Piotr B; Adamski, Paweł; Stefański, Grzegorz; Mikołajczyk-Cichońska, Aleksandra; Suda-Szczurek, Magdalena

    2015-01-01

    Objective The main objective of this study was to evaluate whether vaginal administration of probiotic Lactobacillus results in their colonization and persistence in the vagina and whether Lactobacillus colonization promotes normalization and maintenance of pH and Nugent score. Patients and methods The study was a multicenter, randomized, double-blind, and placebo-controlled trial. Altogether, 376 women were assessed for eligibility, and signed informed consent. One hundred and sixty eligible women with abnormal, also called intermediate, vaginal microflora, as indicated by a Nugent score of 4–6 and pH >4.5 and zero or low Lactobacillus count, were randomized. Each participant was examined four times during the study. Women were randomly allocated to receive either the probiotic preparation inVag®, or a placebo (one capsule for seven consecutive days vaginally). The product inVag includes the probiotic strains Lactobacillus fermentum 57A, Lactobacillus plantarum 57B, and Lactobacillus gasseri 57C. We took vaginal swabs during visits I, III, and IV to determine the presence and abundance of bacteria from the Lactobacillus genus, measure the pH, and estimate the Nugent score. Drug safety evaluation was based on analysis of the types and occurrence of adverse events. Results Administration of inVag contributed to a significant decrease (between visits) in both vaginal pH (P<0.05) and Nugent score (P<0.05), and a significant increase in the abundance of Lactobacillus between visit I and visits III and IV (P<0.05). Molecular typing revealed the presence of Lactobacillus strains originating from inVag in 82% of women taking the drug at visit III, and 47.5% at visit IV. There was no serious adverse event related to inVag administration during the study. Conclusion The probiotic inVag is safe for administration to sustainably restore the healthy vaginal microbiota, as demonstrated by predominance of the Lactobacillus bacteria in vaginal microbiota. PMID:26451088

  1. Evaluation of congenital dysautonomia other than Riley-Day syndrome.

    PubMed

    Alvarez, E; Ferrer, T; Pérez-Conde, C; López-Terradas, J M; Pérez-Jiménez, A; Ramos, M J

    1996-02-01

    We report on four children, from different families, who suffer from a congenital autonomic disorder, presumably inherited. Three of them have a sensory neuropathy but do not fit any described hereditary sensory and autonomic neuropathy. All four were examined along with some of their immediate family members. We assessed the cardiovagal, sympathetic adrenergic and sympathetic cholinergic functions with a battery of non-invasive tests. Results demonstrated that sudomotor and cardiovascular orthostatic regulation exhibited the greatest abnormalities, pointing to a predominant impairment of sympathetic components, both cholinergic and adrenergic. The overall examination showed a heterogeneous group of congenital dysautonomia, exclusive of Riley-Day or other recognized hereditary sensory and autonomic neuropathies. We emphasize the importance of studying whole family groups to diagnose subclinical impairment and to provide correct genetic counselling.

  2. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  3. Complex choristoma of the lacrimal caruncle: a case report of an unusual congenital tumor with clinical and histopathological classification.

    PubMed

    Diaz-Perez, Julio A; Barajas-Gamboa, Juan S

    2012-02-01

    Rare congenital tumors can be localized in the peribulbar area. Here we report an unusual case presented in a 3-year-old child with a history of a congenital tumor in the lacrimal caruncle of the right eye, associated with epiphora and constant discomfort. A surgical resection was performed, and the final histopathological diagnosis was lacrimal caruncle complex choristoma. Choristomas are growths of apparently normal tissue in an abnormal location, which can be situated anywhere in the body, including ocular and peribulbar structures. These almost unknown congenital tumors constitute the most common conjunctival tumors in children and can be interpreted clinically as different lesions, which are only differentiated through precise histopathological analysis.

  4. Treatment Options by Stage (Vaginal Cancer)

    MedlinePlus

    ... and vagina. The cells are viewed under a microscope to find out if they are abnormal. This ... the cervix. The cells are checked under a microscope for signs of disease. Colposcopy : A procedure in ...

  5. Abnormalities of sex differentiation.

    PubMed

    Nawata, H; Takayanagi, R; Yanase, T; Ikuyama, S; Okabe, T

    1996-01-01

    Sex differentiation is determined by a cascade of events proceeding from chromosomal sex to the completion of sexual maturation at puberty. Many factors involved in this cascade have been identified. Here we focus on DAX-1, androgen receptor and cytochrome P450c17, and discuss their functions in sex differentiation. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo mutation in the DAX-1 gene. Androgen insensitivity syndrome (AIS) is a good model to clarify the relationship between the structure and function of androgen receptor, the androgen receptor gene mutation and clinical phenotype. We analyzed 15 cases of AIS and demonstrate the structural and functional relationships of the androgen receptor. We have sequenced the CYP17 (P450c17) gene in DNA from several patients with 17 alpha-hydroxylase deficiency, reconstructed the mutations in a human P450c17 cDNA and expressed the mutant P450c17 in COSl cells to characterize the kinetic properties of 17 alpha-hydroxylase and 17,20-lyase activities. The molecular bases of cases clinically reported as 17 alpha-hydroxylase deficiency have turned out to be complete or partial combined deficiencies of 17 alpha-hydroxylase/17,20-lyase. PMID:8864743

  6. Unusual association between cardiac, skeletal, urogenital and renal abnormalities.

    PubMed

    Goryaeva, Maria; Sykes, Mark Christopher; Lau, Benjamin; West, Simon

    2016-01-01

    We present a 33-year-old woman with an array of congenital abnormalities. She has been diagnosed with polycystic kidney disease (PCKD) with no detectable mutations in PKD1 or PKD2, spina bifida occulta, thoracic skeletal abnormalities, a uterus didelphys and a patent foramen ovale (PFO). There are several associations reported in the literature that include abnormalities similar to the patient's, but none describe her presentation in its entirety. The MURCS association is characterised by (MU)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies and goes some way in explaining these condition. Patients with both MURCS and PCKD have not been described in current literature. Through this report, we hope to bring a potential diagnosis to light and provide the patient with an improved understanding of her health. PMID:27402585

  7. Sonic Hedgehog: A Good Gene Gone Bad? Detection and Treatment of Genetic Abnormalities.

    ERIC Educational Resources Information Center

    Yaich, Lauren E.

    2001-01-01

    Presents a case of a baby born with the genetic condition holoprosencephaly in which students explore the "Sonic hedgehog" gene, signal transduction, and the ethics of body and tissue donation. Presents a two-part assignment that features students writing an informed consent document that explains the science behind this congenital abnormality,…

  8. [Hair shaft abnormalities].

    PubMed

    Itin, P H; Düggelin, M

    2002-05-01

    Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

  9. Vaginal Douching in Cambodian Women: Its Prevalence and Association With Vaginal Candidiasis

    PubMed Central

    Heng, Lon Say; Yatsuya, Hiroshi; Morita, Satoshi; Sakamoto, Junichi

    2010-01-01

    Background We determined the prevalence of vaginal douching (cleansing of the vagina with liquid) in a sample of Cambodian women, and examined the associations of douching with genitourinary symptoms and infections, after controlling for potential confounding factors, including genitourinary symptoms and sociodemographic factors. Methods A total of 451 adolescent and adult females aged 15 to 49 years who attended 17 maternal and child health (MCH) clinics in 7 provinces of Cambodia in 2001 were consecutively enrolled as a part of the Sexually Transmitted Infection Sentinel Survey. Sociodemographic factors, genitourinary symptoms, and frequency of douching were assessed by face-to-face interviews using a structured questionnaire. Vaginal infections were examined by using standard diagnostic procedures specific to each pathogen. Results The proportion of participants who douched at least once a week was 76.7% (n = 346). Douching was significantly more prevalent in urban than in rural women (85.7%, n = 198 vs 67.3%, n = 148; P < 0.001). Frequency of douching was significantly associated with genitourinary symptoms, which were most prevalent in participants who douched from several times a week to once a day; genitourinary symptoms were less prevalent in those who douched more than once a day. Douching was significantly associated with vaginal candidiasis, but not with trichomoniasis or bacterial vaginosis, and this association persisted even after controlling for sociodemographic factors and genitourinary symptoms. Conclusions Vaginal douching was very common among Cambodian women visiting MCH clinics. Further investigations are warranted to elucidate the reasons for douching. In addition, women should be informed that douching may endanger their reproductive health. PMID:20009371

  10. Mucus-penetrating nanoparticles for vaginal and gastrointestinal drug delivery

    NASA Astrophysics Data System (ADS)

    Ensign-Hodges, Laura

    A method that could provide more uniform and longer-lasting drug delivery to mucosal surfaces holds the potential to greatly improve the effectiveness of prophylactic and therapeutic approaches for numerous diseases and conditions, including sexually transmitted infections and inflammatory bowel disease. However, the body's natural defenses, including adhesive, rapidly cleared mucus linings coating nearly all entry points to the body not covered by skin, has limited the effectiveness of drug and gene delivery by nanoscale delivery systems. Here, we investigate the use of muco-inert mucus-penetrating nanoparticles (MPP) for improving vaginal and gastrointestinal drug delivery. Conventional hydrophobic nanoparticles strongly adhere to mucus, facilitating rapid clearance from the body. Here, we demonstrate that mucoadhesive polystyrene nanoparticles (conventional nanoparticles, CP) become mucus-penetrating in human cervicovaginal mucus (CVM) after pretreatment with sufficient concentrations of Pluronic F127. Importantly, the diffusion rate of large MPP did not change in F127 pretreated CVM, implying there is no affect on the native pore structure of CVM. Additionally, there was no increase in inflammatory cytokine release in the vaginal tract of mice after daily application of 1% F127 for one week. Importantly, HSV virus remains adherent in F127-pretreated CVM. Mucosal epithelia use osmotic gradients for fluid absorption and secretion. We hypothesized that hypotonically-induced fluid uptake could be advantageous for rapidly delivering drugs through mucus to the vaginal epithelium. We evaluated hypotonic formulations for delivering water-soluble drugs and for drug delivery with MPP. Hypotonic formulations markedly increased the rate at which drugs and MPP reached the epithelial surface. Additionally, hypotonic formulations greatly enhanced drug and MPP delivery to the entire epithelial surface, including deep into the vaginal folds (rugae) that isotonic formulations

  11. 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

  12. Unraveling the Dynamics of the Human Vaginal Microbiome

    PubMed Central

    Nunn, Kenetta L.; Forney, Larry J.

    2016-01-01

    Four Lactobacillus species, namely L. crispatus, L. iners, L. gasseri, and L. jensenii, commonly dominate the vaginal communities of most reproductive-age women. It is unclear why these particular species, and not others, are so prevalent. Historically, estrogen-induced glycogen production by the vaginal epithelium has been proffered as being key to supporting the proliferation of vaginal lactobacilli. However, the ‘fly in the ointment’ (that has been largely ignored) is that the species of Lactobacillus commonly found in the human vagina cannot directly metabolize glycogen. It would appear that this riddle has been solved as studies have demonstrated that vaginal lactobacilli can metabolize the products of glycogen depolymerization by α-amylase, and fortunately, amylase activity is found in vaginal secretions. These amylases are presumed to be host-derived, but we suggest that other bacterial populations in vaginal communities could also be sources of amylase in addition to (or instead of) the host. Here we briefly review what is known about human vaginal bacterial communities and discuss how glycogen-derived resources and resource competition might shape the composition and structure of these communities. PMID:27698617

  13. Unraveling the Dynamics of the Human Vaginal Microbiome

    PubMed Central

    Nunn, Kenetta L.; Forney, Larry J.

    2016-01-01

    Four Lactobacillus species, namely L. crispatus, L. iners, L. gasseri, and L. jensenii, commonly dominate the vaginal communities of most reproductive-age women. It is unclear why these particular species, and not others, are so prevalent. Historically, estrogen-induced glycogen production by the vaginal epithelium has been proffered as being key to supporting the proliferation of vaginal lactobacilli. However, the ‘fly in the ointment’ (that has been largely ignored) is that the species of Lactobacillus commonly found in the human vagina cannot directly metabolize glycogen. It would appear that this riddle has been solved as studies have demonstrated that vaginal lactobacilli can metabolize the products of glycogen depolymerization by α-amylase, and fortunately, amylase activity is found in vaginal secretions. These amylases are presumed to be host-derived, but we suggest that other bacterial populations in vaginal communities could also be sources of amylase in addition to (or instead of) the host. Here we briefly review what is known about human vaginal bacterial communities and discuss how glycogen-derived resources and resource competition might shape the composition and structure of these communities.

  14. A Temperature-Monitoring Vaginal Ring for Measuring Adherence

    PubMed Central

    Boyd, Peter; Desjardins, Delphine; Kumar, Sandeep; Fetherston, Susan M.; Le-Grand, Roger; Dereuddre-Bosquet, Nathalie; Helgadóttir, Berglind; Bjarnason, Ásgeir; Narasimhan, Manjula; Malcolm, R. Karl

    2015-01-01

    Background Product adherence is a pivotal issue in the development of effective vaginal microbicides to reduce sexual transmission of HIV. To date, the six Phase III studies of vaginal gel products have relied primarily on self-reporting of adherence. Accurate and reliable methods for monitoring user adherence to microbicide-releasing vaginal rings have yet to be established. Methods A silicone elastomer vaginal ring prototype containing an embedded, miniature temperature logger has been developed and tested in vitro and in cynomolgus macaques for its potential to continuously monitor environmental temperature and accurately determine episodes of ring insertion and removal. Results In vitro studies demonstrated that DST nano-T temperature loggers encapsulated in medical grade silicone elastomer were able to accurately and continuously measure environmental temperature. The devices responded quickly to temperature changes despite being embedded in different thickness of silicone elastomer. Prototype vaginal rings measured higher temperatures compared with a subcutaneously implanted device, showed high sensitivity to diurnal fluctuations in vaginal temperature, and accurately detected periods of ring removal when tested in macaques. Conclusions Vaginal rings containing embedded temperature loggers may be useful in the assessment of product adherence in late-stage clinical trials. PMID:25965956

  15. A comparison of abdominal and vaginal hysterectomies in Benghazi, Libya.

    PubMed

    Agnaeber, K; Bodalal, Z

    2013-08-01

    We performed a comparative study between abdominal and vaginal hysterectomies using clinical data from Al-Jamhouria hospital (one of the largest maternity hospitals in Eastern Libya). Various parameters were taken into consideration: the rates of each type (and their subtypes); average age of patients; indications; causes; postoperative complications; and duration of stay in the hospital afterwards. Conclusions and recommendations were drawn from the results of this study. In light of the aforementioned parameters, it was found that: (1) abdominal hysterectomies were more common than vaginal hysterectomies (p < 0.001); (2) patients admitted for abdominal hysterectomies are younger than those admitted for vaginal hysterectomies (p < 0.001); (3) the most common indication for an abdominal hysterectomy was menstrual disturbances, while for vaginal hysterectomies it was vaginal prolapse; (4) the histopathological cause for abdominal and vaginal hysterectomies were observed and the most common were found to be leiomyomas and atrophic endometrium; (5) there was no significant difference between the two routes in terms of postoperative complications; (6) patients who were admitted for abdominal hysterectomies spent a longer amount of time in the hospital (p < 0.01). It was concluded that efforts should be made to further pursue vaginal and laparoscopic hysterectomies as a viable option to the more conventional abdominal route.

  16. Association of seizure, facial dysmorphism, congenital umbilical hernia and undescended testes.

    PubMed

    Thapa, L J; Pokharel, B R; Paudel, R; Rana, P V S

    2012-01-01

    With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI findings may help in confirming the diagnosis. A nine years old boy is presented where early onset seizure, mental retardation, delayed development of speech, presence of facial dysmorphism,, umbilical hernia and undescended testes suggested possibility of chromosomal 6q deletion disorder. Important deletion disorders are discussed and importance of clinical examination is stressed.

  17. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  18. Congenital mirror movements

    PubMed Central

    Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis

    2014-01-01

    Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. PMID:24808016

  19. Treating dyspareunia caused by vaginal atrophy: a review of treatment options using vaginal estrogen therapy

    PubMed Central

    Kingsberg, SA; Kellogg, S; Krychman, M

    2010-01-01

    Vulvovaginal atrophy (VVA) and dryness are common symptoms of the decline in endogenous production of estrogen at menopause and often result in dyspareunia. Yet while 10% to 40% of women experience discomfort due to VVA, it is estimated that only 25% seek medical help. The main goals of treatment for vaginal atrophy are to improve symptoms and to restore vaginal and vulvar anatomic changes. Treatment choices for postmenopausal dyspareunia resulting from vulvovaginal atrophy will depend on the underlying etiology and might include individualized treatment. A number of forms of vaginal estrogen and manner of delivery are currently available to treat moderate to severe dyspareunia caused by VVA. They all have been shown to be effective and are often the preferred treatment due to the targeted efficacy for urogenital tissues while resulting in only minimal systemic absorption. Both healthcare professionals and patients often find it difficult to broach the subject of sexual problems associated with VVA. However, with minimal effort to initiate a conversation about these problems, healthcare providers can provide useful information to their postmenopausal patients in order to help them each choose the optimal treatment for their needs and symptoms. PMID:21072280

  20. Magnitude of Interfractional Vaginal Cuff Movement: Implications for External Irradiation

    SciTech Connect

    Ma, Daniel J.; Michaletz-Lorenz, Martha; Goddu, S. Murty; Grigsby, Perry W.

    2012-03-15

    Purpose: To quantify the extent of interfractional vaginal cuff movement in patients receiving postoperative irradiation for cervical or endometrial cancer in the absence of bowel/bladder instruction. Methods and Materials: Eleven consecutive patients with cervical or endometrial cancer underwent placement of three gold seed fiducial markers in the vaginal cuff apex as part of standard of care before simulation. Patients subsequently underwent external irradiation and brachytherapy treatment based on institutional guidelines. Daily megavoltage CT imaging was performed during each external radiation treatment fraction. The daily positions of the vaginal apex fiducial markers were subsequently compared with the original position of the fiducial markers on the simulation CT. Composite dose-volume histograms were also created by summing daily target positions. Results: The average ({+-} standard deviation) vaginal cuff movement throughout daily pelvic external radiotherapy when referenced to the simulation position was 16.2 {+-} 8.3 mm. The maximum vaginal cuff movement for any patient during treatment was 34.5 mm. In the axial plane the mean vaginal cuff movement was 12.9 {+-} 6.7 mm. The maximum vaginal cuff axial movement was 30.7 mm. In the craniocaudal axis the mean movement was 10.3 {+-} 7.6 mm, with a maximum movement of 27.0 mm. Probability of cuff excursion outside of the clinical target volume steadily dropped as margin size increased (53%, 26%, 4.2%, and 1.4% for 1.0, 1.5, 2.0, and 2.5 cm, respectively.) However, rectal and bladder doses steadily increased with larger margin sizes. Conclusions: The magnitude of vaginal cuff movement is highly patient specific and can impact target coverage in patients without bowel/bladder instructions at simulation. The use of vaginal cuff fiducials can help identify patients at risk for target volume excursion.

  1. Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation.

    PubMed

    Averill, Lauren W; Kandula, Vinay V R; Akyol, Yakup; Epelman, Monica

    2015-12-01

    Fetal brain magnetic resonance imaging (MRI) is a powerful tool in the diagnosis of symptomatic congenital cytomegalovirus infection, requiring a detailed search for specific features. A combination of anterior temporal lobe abnormalities, white matter lesions, and polymicrogyria is especially predictive. Fetal MRI may provide a unique opportunity to detect anterior temporal cysts and occipital horn septations, as dilation of these areas may decrease later in development. Cortical migration abnormalities, white matter abnormalities, cerebellar dysplasia, and periventricular calcifications are often better depicted on postnatal imaging but can also be detected on fetal MRI. We present the prenatal brain MRI findings seen in congenital cytomegalovirus infection and provide postnatal imaging correlation, highlighting the evolution of findings at different times in prenatal and postnatal developments. PMID:26614131

  2. Perinatal and early infantile symptoms in congenital disorders of glycosylation.

    PubMed

    Funke, Simone; Gardeitchik, Thatjana; Kouwenberg, Dorus; Mohamed, Miski; Wortmann, Saskia B; Korsch, Eckhard; Adamowicz, Maciej; Al-Gazali, Lihadh; Wevers, Ron A; Horvath, Adrienne; Lefeber, Dirk J; Morava, Eva

    2013-03-01

    Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG-I, or CDG-II. The diagnosis of CDG is frequently delayed due to the highly variable phenotype, some cases showing single organ involvement and others mimicking syndromes, like skeletal dysplasia, cutis laxa syndrome, or congenital muscle dystrophy. The aim of our study was to evaluate perinatal abnormalities and early discriminative symptoms in 58 patients consecutively diagnosed with diverse CDG-subtypes. Neonatal findings and clinical features in the first months of life were studied in 36 children with CDG-I and 22 with CDG-II. Maternal complications were found in five, small for gestational age in nine patients. Five children had abnormal neonatal screening results for hypothyroidism. Congenital microcephaly and neonatal seizures were common in CDG-II. Inverted nipples were uncommon with 5 out of 58 children. Dysmorphic features were mostly nonspecific, except for cutis laxa. Early complications included feeding problems, cardiomyopathy, thrombosis, and bleeding. Cases presenting in the neonatal period had the highest mortality rate. Survival in CDG patients is highly dependent on early intervention therapy. We recommend low threshold screening for glycosylation disorders in infants with neurologic symptoms, even in the absence of abnormal fat distribution. Growth retardation and neonatal bleeding increase suspicion for CDG. PMID:23401092

  3. Vulvar and Vaginal Atrophy: Physiology, Clinical Presentation, and Treatment Considerations.

    PubMed

    Lev-Sagie, Ahinoam

    2015-09-01

    Vulvovaginal atrophy is a common condition associated with decreased estrogenization of the vaginal tissue. Symptoms include vaginal dryness, irritation, itching, soreness, burning, dyspareunia, discharge, urinary frequency, and urgency. It can occur at any time in a woman's life cycle, although more commonly in the postmenopausal phase, during which the prevalence is approximately 50%. Despite the high prevalence and the substantial effect on quality of life, vulvovaginal atrophy often remains underreported and undertreated. This article aims to review the physiology, clinical presentation, assessment, and current recommendations for treatment, including aspects of effectiveness and safety of local vaginal estrogen therapies.

  4. Colostrum in menopause effects on vaginal cytology/symptoms.

    PubMed

    Tucci, S; Mancini, R; De Vitis, C; Noto, A; Marra, E; Lukic, A; Giovagnoli, M R; Moscarini, M

    2013-01-01

    The aim of this study was to assess the effects of three weeks of daily colostrum cream on vaginal cytology and local symptoms related to menopause. Genito-urinary symptoms and cell morphology were analyzed at time 0 (T0) and after three weeks (16 +/- days since the end of treatment) at time 1 (T1). Dyspareunia, vaginal dryness, and maturation index (MI) reached a statistically significant difference between T0 and T1. The results proved to be an alternative treatment for vaginal distress caused by lack of hormones in patients in which hormonal treatment is contraindicated.

  5. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    PubMed Central

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  6. 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

    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

  7. Congenital Aberrant Tearing: A Re-Look

    PubMed Central

    Miller, Marilyn T.; Strömland, Kerstin; Ventura, Liana

    2008-01-01

    Purpose Congenital aberrant tearing is characterized by tearing when eating (“crocodile tears”), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition. Methods Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy. Results In the 28 Italian individuals, either “crocodile tears” or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality. Conclusion Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo. PMID:19277226

  8. Aerobic Training in Patients with Congenital Myopathy

    PubMed Central

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Heje, Karen; Preisler, Nicolai; Witting, Nanna; Vissing, John

    2016-01-01

    Introduction Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. Methods Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine kinase (CK) was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy. Results Sixteen patients with CM were included in a controlled study. VO2max increased by 14% (range, 6–25%; 95% CI 7–20; p < 0.001) in the seven patients who completed training, and tended to decrease in a non-intervention group (n = 7; change -3.5%; range, -11–3%, p = 0.083). CK levels were normal and remained stable during training. Baseline Fatigue Severity Scale scores were high, 4.9 (SE 1.9), and tended to decrease (to 4.4 (SE 1.7); p = 0.08) with training. Nine patients dropped out of the training program. Fatigue was the major single reason. Conclusions Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training did not cause sarcomeric injury, even though sarcomeric function is affected by the genetic abnormalities in most patients with CM. Severe fatigue, which characterizes patients with CM, is a limiting factor for initiating training in CM, but tends to improve in those who train. Trial Registration The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066 PMID:26751952

  9. [Vaginal sonography as a method of study in the evaluation of cervix insufficiency. A useful complement to vaginal palpation?].

    PubMed

    Böhmer, S; Degenhardt, F; Gerlach, C; Behrens, O; Mühlhaus, K

    1989-02-01

    In a clinical study a group of pregnant women with suspected cervical incompetence was examined by vaginal sonography. Aim of the investigation was to compare results of performed vaginal palpation with results of sonography. 53 pregnant women between 20th und 31st week of gestation were examined by a 5 MHz vaginal sector-scanner probe. After focussing sagittal projection of uterine cervix and lower uterine segment the cervical length and opening of the internal os were assessed prior to cerclage. Postoperative vaginal sonography was performed to ascertain lengthening and stabilization of the incompetent cervix. Comparing results of vaginal palpation and vaginal sonography showed, that the cervical length obtained by sonography was constantly higher in all patients than the results obtained by palpation. This difference became more distinct in the group of patients with extreme cervical incompetence. We are of the opinion that vaginal sonography is an objective method revealing the extent of cervical incompetence. Exact measurement of the cervical length and assessment of the internal os are efficient diagnostic criteria. They complete results of cervical palpation and offer precise information concerning an intended cerclage. PMID:2652287

  10. Ethnic differences in the distribution of congenital malformations.

    PubMed Central

    Terry, P. B.; Mathew, P. M.; Condie, R. G.; Bissenden, J. G.

    1983-01-01

    Major lethal and non-lethal congenital malformations occurring in babies born in Dudley Road Hospital in 1979, 1980 and 1981 were related to the ethnic group of the mother. There was an increased incidence of gastrointestinal malformations in the Indian group and an increased incidence of abnormalities that could be associated with consanguinity and increased maternal age in the Pakistani group. A sample population (2000 mothers) was obtained in the first 7 months of 1982 to determine the maternal age distribution and consanguinity rates in the various ethnic groups. PMID:6647180

  11. [Clinical and MRI Findings in Patients with Congenital Anosmia].

    PubMed

    Ogawa, Takao; Kato, Tomohisa; Ono, Mayu; Shimizu, Takeshi

    2015-08-01

    The clinical characteristics of 16 patients with congenital anosmia were examined retrospectively. MRI (magnetic resonance imaging) was used to assess the morphological changes in the olfactory bulbs and olfactory sulci according to the method of P. Rombaux (2009). Congenital anosmia was divided into two forms: syndromic forms in association with a syndrome, and isolated forms without evidence of other defects. Only three patients (19%) in our series had syndromic forms of congenital anosmia, such as the Kallmann syndrome. Most cases (13 patients, 81%) had isolated congenital anosmia. Psychophysical testing of the olfactory function included T&T olfactometry and the intravenous Alinamin test, which are widely used in Japan. In T&T olfactometry, detection and recognition thresholds for the five odorants are used to assign a diagnostic category representing the level of olfactory function. Most cases (14 patients, 88%) showed off-scale results on T&T olfactometry, and the Alinamin test resulted in no response in all 11 patients who underwent the test. Abnormal MRI findings of the olfactory bulbs and sulci were detected in 15 of 16 patients (94%). Olfactory bulbs were bilaterally absent in nine patients (56%), and two patients (13%) had unilateral olfactory bulbs. Four patients (25%) had bilateral hypoplastic olfactory bulbs, and only one patient had normal olfactory bulbs (6%). The olfactory sulcus was unilaterally absent in one patient (6%), and nine patients (56%) had bilaterally hypoplastic olfactory sulci. Two patients (13%) had a unilateral normal olfactory sulcus and hypoplastic olfactory sulcus. Three patients (19%) had normal olfactory sulci. Quantitative analysis showed that the volume of olfactory bulbs varied from 0 mm3 to 63.5 mm3, with a mean volume of 10.20 ± 18 mm3, and the mean depth of the olfactory sulcus varied from 0 mm to 12.22 mm, with a mean length of 4.85 ± 4.1 mm. Currently, there is no effective treatment for congenital anosmia. However

  12. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  13. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  14. Intravaginal and intranasal immunizations are equally effective in inducing vaginal antibodies and conferring protection against vaginal candidiasis.

    PubMed

    De Bernardis, Flavia; Boccanera, Maria; Adriani, Daniela; Girolamo, Antonietta; Cassone, Antonio

    2002-05-01

    Oophorectomized, estrogen-treated rats were immunized by the intravaginal or intranasal route with a mannoprotein extract (MP) or secreted aspartyl proteinases (Sap) of Candida albicans, with or without cholera toxin as a mucosal adjuvant. Both routes of immunization were equally effective in (i) inducing anti-MP and anti-Sap vaginal antibodies and (ii) conferring a high degree of protection against the vaginal infection by the fungus. These data suggest that appropriate fungal antigens and adjuvant can be used to protect against candidal vaginitis, by either route.

  15. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  16. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  17. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  18. The rodent estrous cycle: characterization of vaginal cytology and its utility in toxicological studies.

    PubMed

    Goldman, Jerome M; Murr, Ashley S; Cooper, Ralph L

    2007-04-01

    While an evaluation of the estrous cycle in laboratory rodents can be a useful measure of the integrity of the hypothalamic-pituitary-ovarian reproductive axis, it can also serve as a way of insuring that animals exhibiting abnormal cycling patterns are disincluded from a study prior to exposure to a test compound. Assessment of vaginal cytology in regularly cycling animals also provides a means to establish a comparable endocrine milieu for animals at necropsy. The procedure for obtaining a vaginal smear is relatively non-invasive and is one to which animals can become readily accustomed. It requires few supplies, and with some experience the assessments can be easily performed in fresh, unstained smears, or in fixed, stained ones. When incorporated as an adjunct to other endpoint measures, a determination of a female's cycling status can contribute important information about the nature of a toxicant insult to the reproductive system. In doing so, it can help to integrate the data into a more comprehensive mechanistic portrait of the effect, and in terms of risk assessment, may provide some indication of a toxicant's impact on human reproductive physiology.

  19. Unidirectional abnormal eye movement without gaze nystagmus - Report of a case.

    PubMed

    Mizuno, Masahiro; Shibasaki, Osamu; Shindo, Susumu; Ito, Akinori; Kase, Yasuhiro

    2016-06-01

    We report here a case with unidirectional abnormalities of smooth eye movements without gaze nystagmus. Abnormalities of eye movements were confined to unidirectional (leftward) horizontal pursuit and slow phase of OKN; however, horizontal VOR (slow phase of caloric nystagmus) and saccade were normal, and vertical eye movements were also normal. No lesions were detected in the central nervous system, and any history of drug intake was denied. Although the cause of the unidirectional abnormality in eye movement of this case is still not clear, a congenital origin seems to be the most probable. PMID:26386498

  20. WHO to concentrate HIV strategy on vaginal microbicide.

    PubMed

    Cookson, C

    1993-11-27

    The World Health Organization (WHO), at a meeting in Geneva in November 1993, launched a campaign that will coordinate efforts of the pharmaceutical industry, academic research institutes, and drug regulatory bodies to find a vaginal antiviral agent that will either inactivate the human immunodeficiency virus (HIV) or prevent its attachment to vaginal cells, without harming the genital tract or killing sperm. Spermicides, such as nonoxynol 9, which kill HIV in test tubes may increase HIV transmission by harming the vaginal lining. However, this may be due to the carrier substance. Clinical research, using a protocol designed by the WHO and international regulatory authorities, will begin examining existing vaginal microbicides. Other candidates include sulphated polysaccharides and reverse transcriptase inhibitors. Included are comments by Dr. Michael Merson and Prof. Don Jefferies. The meeting was organized by the United Kingdom's Medical Research Council and Department of Health.