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Sample records for abnormalities congenital vaginal

  1. Congenital Abnormalities

    MedlinePlus

    ... serious health problems (e.g. Down syndrome ). Single-Gene Abnormalities Sometimes the chromosomes are normal in number, ... blood flow to the fetus impair fetal growth. Alcohol consumption and certain drugs during pregnancy significantly increase ...

  2. Congenital urethrovaginal fistula with transverse vaginal septum.

    PubMed

    Amer, Mohamed Ibrahim; Ahmed, Mortada El-Sayed; Ali, Ali Hagag

    2016-08-01

    Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum. The patient was successfully treated with excision of the septum and closure of the urethrovaginal fistula. PMID:27170419

  3. [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

  4. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  5. What proportion of congenital abnormalities can be prevented?

    PubMed Central

    Czeizel, A E; Intôdy, Z; Modell, B

    1993-01-01

    OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

  6. Congenital anorectal abnormalities in six dogs.

    PubMed

    Prassinos, N N; Papazoglou, L G; Adamama-Moraitou, K K; Galatos, A D; Gouletsou, P; Rallis, T S

    2003-07-19

    Congenital anorectal abnormalities were diagnosed in three male and three female dogs. One dog had anal stenosis, three had a persistent anal membrane, and the other two had an imperforate anus associated with a rectovaginal fistula. Five of the dogs were treated surgically, and four of them which were followed up for periods ranging from one to five years continued to pass faeces normally. PMID:12892267

  7. 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

  8. 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

  9. 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. PMID:25661902

  10. Congenital and acquired orthopedic abnormalities in patients with myelomeningocele.

    PubMed

    Westcott, M A; Dynes, M C; Remer, E M; Donaldson, J S; Dias, L S

    1992-11-01

    This article presents a radiologic review of the spectrum of acquired and congenital orthopedic abnormalities found in patients with myelomeningocele. These abnormalities are caused predominantly by muscle imbalance, paralysis, and decreased sensation in the lower extremity. Iatrogenic injury, such as a postoperative tethered cord, may also cause bone abnormalities. Selected images were obtained from more than 800 children. Important entities presented include spinal curvatures such as kyphosis, scoliosis, and lordosis; subluxation and dislocation of the hip, coxa valga, contractures of the hip, and femoral torsion; knee deformities; rotational abnormalities of the lower extremity and external and internal torsion; ankle and foot abnormalities such as ankle valgus, calcaneus foot, congenital vertical talus (rocker-bottom deformity), and talipes equinovarus; and metaphyseal, diaphyseal, and physeal fractures. Familiarity with congenital abnormalities and an understanding of the pathogenesis of acquired disorders in patients with myelomeningocele are essential for proper radiologic interpretation and timely therapy. PMID:1439018

  11. Prevention of congenital abnormalities by periconceptional multivitamin supplementation.

    PubMed Central

    Czeizel, A E

    1993-01-01

    OBJECTIVE--To study the effect of periconceptional multivitamin supplementation on neural tube defects and other congenital abnormality entities. DESIGN--Randomised controlled trial of supplementation with multivitamins and trace elements. SETTING--Hungarian family planning programme. SUBJECTS--4156 pregnancies with known outcome and 3713 infants evaluated in the eighth month of life. INTERVENTIONS--A single tablet of a multivitamin including 0.8 mg of folic acid or trace elements supplement daily for at least one month before conception and at least two months after conception. MAIN OUTCOME MEASURES--Number of major and mild congenital abnormalities. RESULTS--The rate of all major congenital abnormalities was significantly lower in the group given vitamins than in the group given trace elements and this difference cannot be explained totally by the significant reduction of neural tube defects. The rate of major congenital abnormalities other than neural tube defects and genetic syndromes was 9.0/1000 in pregnancies with known outcome in the vitamin group and 16.6/1000 in the trace element group; relative risk 1.85 (95% confidence interval 1.02 to 3.38); difference, 7.6/1000. The rate of all major congenital abnormalities other than neural tube defects and genetic syndromes diagnosed up to the eighth month of life was 14.7/1000 informative pregnancies in the vitamin group and 28.3/1000 in the trace element group; relative risk 1.95 (1.23 to 3.09); difference, 13.6/1000. The rate of some congenital abnormalities was lower in the vitamin group than in the trace element group but the differences for each group of abnormalities were not significant. CONCLUSIONS--Periconceptional multivitamin supplementation can reduce not only the rate of neural tube defects but also the rate of other major non-genetic syndromatic congenital abnormalities. Further studies are needed to differentiate the chance effect and vitamin dependent effect. PMID:8324432

  12. 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.…

  13. Cerebral glucose metabolic abnormality in patients with congenital scoliosis.

    PubMed

    Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

    2008-07-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography. PMID:18446384

  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. Comparison of molecular abnormalities in vulvar and vaginal melanomas.

    PubMed

    Aulmann, Sebastian; Sinn, Hans P; Penzel, Roland; Gilks, C Blake; Schott, Sarah; Hassel, Jessica C; Schmidt, Dietmar; Kommoss, Friedrich; Schirmacher, Peter; Kommoss, Stefan

    2014-10-01

    Malignant melanoma of the vulva and vagina is relatively uncommon and accounts for <5% of all melanomas in women. The aim of our study was to establish the biological properties and evaluate potential therapeutic targets in these tumors. We collected a series of 65 cases from three centers and re-evaluated the tumor tissue for predominant growth pattern (superficial spreading, nodular, and mucosal lentiginous) and tumor thickness. KIT (CD117) expression was detected immunohistochemically. In addition, tumors were screened for BRAF, NRAS, and KIT mutations by PCR and DNA sequencing as well as for KIT amplifications by fluorescence in situ hybridization. None of the cases contained BRAF mutations. NRAS mutations and KIT amplifications were detected in similar frequency (∼12%) in tumors of the vulva and vagina. In contrast, KIT mutations were present in 18% of primary melanomas of the vulva, but in none of the tumors arising in the vagina. Moderate or strong KIT protein expression was detected in 30 cases, including all tumors with KIT mutations and 6 of the 7 with KIT amplifications. In conclusion, BRAF mutations are virtually absent in melanomas originating from the vulva or vagina, whereas NRAS mutations and KIT amplifications occur in both locations. KIT mutations appear to be specific for melanomas of the vulva, suggesting that in spite of the anatomic proximity, the development of vulvar and vaginal melanomas involves different molecular alterations which may be targeted by novel treatment approaches. PMID:24603591

  16. 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

  17. Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

    PubMed

    Dittmer, K E; Thompson, K G

    2015-09-01

    Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. PMID:25910781

  18. Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-02-01

    The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can reliably study the developing cerebellum. Pre- and postnatal neuroimaging plays a key role in the diagnostic work-up of congenital cerebellar abnormalities. Diagnostic criteria for cerebellar malformations and disruptions are based mostly on neuroimaging findings. The diagnosis of a Dandy-Walker malformation is based on the presence of hypoplasia, elevation, and counterclockwise upward rotation of the cerebellar vermis and cystic dilatation of the fourth ventricle, which extends posteriorly filling out the posterior fossa. For the diagnosis of Joubert syndrome, the presence of the molar tooth sign (thickened, elongated, and horizontally orientated superior cerebellar peduncles and an abnormally deep interpeduncular fossa) is needed. The diagnostic criteria of rhombencephalosynapsis include a complete or partial absence of the cerebellar vermis and continuity of the cerebellar hemispheres across the midline. Unilateral cerebellar hypoplasia is defined by the complete aplasia or hypoplasia of one cerebellar hemisphere. Familiarity with these diagnostic criteria as well as the broad spectrum of additional neuroimaging findings is important for a correct pre- and postnatal diagnosis. A correct diagnosis is essential for management, prognosis, and counseling of the affected children and their family. PMID:26166429

  19. Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus

    PubMed Central

    Birraux, Jacques; Mouafo, Faustin Tambo; Dahoun, Sophie; Tardy, Veronique; Morel, Yves; Mouriquand, Pierre; Le Coultre, Claude; Mure, Pierre-Yves

    2015-01-01

    Background: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS) in girls with congenital adrenal hyperplasia (CAH). For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering. Patients and Methods: We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH. Laparoscopic dissection of the vagina from the posterior wall of the bladder and urethra, division of the confluence and vaginal pull-through to the perineum are described. Discussion: The technique is derived from laparoscopic-assisted treatment for high ano-rectal malformations. Compared with current procedures for treatment for high UGS, laparoscopic-assisted approach allows mobilising vagina with minimal dissection of perineum and complete preservation of urethra. Another major advantage is to provide a direct vision for dissection of the space between rectum and urethra prior to vaginal pull-through. Conclusion: Laparoscopic-assisted vaginal pull-through appears to be an interesting approach for high UGS in CAH patients, reducing dissection and risk of urinary incontinence. This new approach needs to be strengthened by other cases. PMID:26612122

  20. Congenital abnormalities of the urogenital tract: the clue is in the cord?

    PubMed

    Daoub, Ahmed; Drake, Thomas M

    2014-01-01

    Congenital abnormalities of the female urogenital tract are not uncommon, with an estimated incidence of 2-4% across the female population. Within this population, up to 40% will have associated renal tract abnormalities. A previously well 12-year-old girl presented to the emergency department with abdominal pain, vomiting and a palpable pelvic mass. Ultrasound and MR scans were performed. The imaging revealed a didelphys uterus, an obstructed hemivagina and ipsilateral renal agenesis, characteristic of Herlyn-Werner-Wunderlich syndrome. The patient was noted at birth to have a single umbilical artery, which is associated with an increased risk of congenital abnormalities and useful information for the early identification of abnormalities that have implications for renal function and future fertility. PMID:25465462

  1. Congenital and Acquired Abnormalities of the Corpus Callosum: A Pictorial Essay

    PubMed Central

    Krupa, Katarzyna; Bekiesinska-Figatowska, Monika

    2013-01-01

    The purpose of this review is to illustrate the wide spectrum of lesions in the corpus callosum, both congenital and acquired: developmental abnormalities, phakomatoses, neurometabolic disorders, demyelinating diseases, infection and inflammation, vascular lesions, neoplasms, traumatic and iatrogenic injury, and others. Cases include fetuses, children, and adults with rich iconography from the authors' own archive. PMID:24027754

  2. Abnormal antioxidant defence in some tissues of congenitally obese mice.

    PubMed Central

    Capel, I D; Dorrell, H M

    1984-01-01

    The concentration of lipoperoxides (estimated as thiobarbituric acid-reactive material) and some components of the antioxidant defence system have been compared in various tissues of lean and congenitally obese mice. NADPH-stimulated lipoperoxide generation in vitro was significantly higher in microsomes (microsomal fractions) prepared from obese hepatic tissue than lean. Plasma, liver and brain lipoperoxide concentration was significantly higher in obese mice. In blood derived from obese mice the concentration of non-enzymic antioxidants including caeruloplasmin and vitamin A was higher, but hepatic retinol concentration was lower in these animals. In all the tissues assayed the glutathione peroxidase activity against H2O2 was less than its activity against cumene hydroperoxide. Assayed with either substrate, glutathione peroxidase activity was significantly higher in the brain and blood of obese mice than their lean counterparts. Conversely, liver glutathione peroxidase was decreased in obese animals, representing 43% of the activity of the lean-mouse liver enzyme against H2O2 and 81% of the cumene hydroperoxide-reducing activity. The liver of obese mice had significantly less, and the kidneys more, oxidized glutathione than the corresponding tissues of lean mice. Further investigations on hepatic tissue indicated that glutathione reductase activity was lower in the obese animals, but there was no significant difference between glucose-6-phosphate dehydrogenase activity in obese and lean mice. PMID:6721863

  3. 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

  4. Oral clefts with associated anomalies: findings in the Hungarian Congenital Abnormality Registry

    PubMed Central

    Sárközi, Andrea; Wyszynski, Diego F; Czeizel, Andrew E

    2005-01-01

    Background Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent. Methods Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated. Results Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated. Conclusion Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional. PMID:15985166

  5. 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

  6. 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

  7. 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 ...

  8. 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. PMID:27504381

  9. 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

  10. 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

  11. Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia.

    PubMed

    Kaga, Akimune; Saito-Hakoda, Akiko; Uematsu, Mitsugu; Kamimura, Miki; Kanno, Junko; Kure, Shigeo; Fujiwara, Ikuma

    2013-10-01

    Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients. PMID:24170965

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

    PubMed

    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. 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

  14. 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

  15. 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

  16. 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

  17. Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism

    PubMed Central

    Avatapalle, Hima Bindu; Banerjee, Indraneel; Shah, Sajni; Pryce, Megan; Nicholson, Jacqueline; Rigby, Lindsey; Caine, Louise; Didi, Mohammed; Skae, Mars; Ehtisham, Sarah; Patel, Leena; Padidela, Raja; Cosgrove, Karen E.; Dunne, Mark J.; Clayton, Peter E.

    2013-01-01

    Introduction: Neuroglycopenia is recognized to be associated with abnormal neurodevelopmental outcomes in 26–44% of children with persistent congenital hyperinsulinism (P-CHI). The prevalence of abnormal neurodevelopment in transient CHI (T-CHI) is not known. We have aimed to investigate abnormal neurodevelopment and associated factors in T-CHI and P-CHI. Materials and Methods: A cohort of children with CHI (n = 67, age 2.5–5 years) was assessed at follow-up review and noted to have normal or abnormal (mild or severe) neurodevelopmental outcomes for the domains of speech and language, motor, and vision. Children were classified as P-CHI (n = 33), if they had undergone surgery or remained on medical therapy, or T-CHI (n = 34), if medical treatment for hypoglycemia was stopped. Results: Overall, abnormal neurodevelopment was present in 26 (39%) children with CHI, of whom 18 (69%) were severe. Importantly, the incidence of abnormal neurodevelopment in T-CHI was similar to that in P-CHI (30 vs. 47% respectively, p = 0.16). The prevalence of severe abnormal neurodevelopment in speech, motor, and vision domains was similar in both T-CHI and P-CHI children. For this cohort, we found that the severity of disease [based upon maximal diazoxide dose (odds ratio 95% confidence intervals) 1.3 (1.1; 1.5), p = 0.03], and early presentation of CHI <7 days following birth [5.9 (1.3; 27.8), p = 0.02] were significantly associated with abnormal neurodevelopment. There was no significant association with gender, genotype, or the histopathological basis of CHI. Conclusion: Abnormal neurodevelopment was evident in one third of children with both T-CHI and P-CHI, early presentation and severe CHI being risk factors. Early recognition and rapid correction of hypoglycemia are advocated to avoid abnormal neurodevelopment in children with CHI. PMID:23730298

  18. 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

  19. Congenital Abnormalities in Children Born in Alberta During 1961: A Survey and a Hypothesis

    PubMed Central

    le Vann, L. J.

    1963-01-01

    In Alberta, the provincial average for neonatal congenital physical abnormalities discovered at birth increased from 7.9 per 1000 births in 1959 to 13.8 per 1000 births in 1961. Drugs taken by mothers during pregnancy were tabulated, including the antiemetic and tranquillizer agents, but no relationship was demonstrated between their use and damage to the fetus. A significant relation was apparent, however, between the incidence of congenital malformations and the extent of precipitation in the area concerned. In Northern Alberta, where precipitation is highest, 15.5 per 1000 children born in 1961 showed physical defects. In Southern Alberta, where precipitation is lowest, 11.9 children per 1000 births were born with physical defects. Increases of radioactive dust containing cesium-137, cerium-144 and strontium-90 were associated with above-ground Soviet thermonuclear Arctic explosions during recent years. The hypothesis is advanced that children born in Alberta in 1962 will show a greater incidence of physical deformities than those born in 1961, owing to greater rainfall during 1961 and 1962. PMID:20327618

  20. 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

  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. Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint.

    PubMed

    Kaneyama, Keiseki; Segami, Natsuki; Hatta, Toshihisa

    2008-09-01

    The temporomandibular joint (TMJ) consists of the mandibular condyle and the articular eminence of the temporal bone. The morphological development of the TMJ during prenatal life lags behind other joints in terms of both the timing of its appearance and its progress. At birth, the joint is still largely underdeveloped. There are many causes of the various growth disturbances and abnormalities of the mandibular condyle and related structures. Growth disturbances in the development of the mandibular condyle may occur in utero late in the first trimester and may result in disorders such as aplasia or hypoplasia of the mandibular condyle. Meanwhile, hyperplasia of the mandibular condyle is not visible at birth and seems to be gradually acquired during growth. In the present review article, the congenital abnormalities of the mandibular condyle are classified morphologically into three major groups and two subgroups from a clinical standpoint: (1) hypoplasia or aplasia of the mandibular condyle, including (i) primary condylar aplasia and hypoplasia, (ii) secondary condylar hypoplasia; (2) hyperplasia; and (3) bifidity. In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed. PMID:18778456

  4. Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

    PubMed

    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

  5. 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

  6. 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

  7. 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 ...

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

    PubMed Central

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

    2015-01-01

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

  9. Vaginal dryness

    MedlinePlus

    Vaginitis - atrophic; Vaginitis due to reduced estrogen; Atrophic vaginitis; Menopause vaginal dryness ... Atrophic vaginitis is caused by a decrease in estrogen. Estrogen keeps the tissues of the vagina lubricated ...

  10. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

    PubMed Central

    Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo; Noguchi, Satoru; Hayashi, Yukiko K.; Nonaka, Ikuya; Sher, Roger B.; Sugimoto, Hiroyuki; Nakagawa, Yasuhito; Cox, Gregory A.; Topaloglu, Haluk; Nishino, Ichizo

    2011-01-01

    Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain. PMID:21665002

  11. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    PubMed Central

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.


Keywords: congenital heart defects; extracardiac malformations; chromosomal abnormalities; necropsy examination PMID:10377306

  12. Insight into Pathologic Abnormalities in Congenital Semilunar Valve Disease Based on Advances in Understanding Normal Valve Microstructure and Extracellular Matrix

    PubMed Central

    Stephens, Elizabeth H.; Kearney, Debra L.; Grande-Allen, K. Jane

    2011-01-01

    Congenitally diseased valves are relatively frequent causes of significant morbidity and mortality. Pathology descriptions of such valves have primarily focused on gross structural features including the number of leaflets or commissures (bicuspid/bicommissural valve) and alterations in the contour, thickness and consistency of the leaflets (dysplastic valve). Functional correlates of these pathologic alterations are valvar stenosis, insufficiency or both. Further characterization of the microstructural abnormalities seen in these malformed valves may not only provide insight into the correlation of distinct pathologies with their respective pathogenesis and clinical sequelae, but also may prove pivotal in uncovering new avenues for therapeutic interventions and prevention regimens. This review summarizes microstructural findings in congenital semilunar valve disease (CSVD) and discusses their relevance in light of recent advances in knowledge of normal valve microstructure, biology, and function. Specifically, the biological and mechanical roles of various matrix components and their interactions are discussed in the context of CSVD. Indeed, recent research in normal valves adds significant insight into CSVD, and raises many hypotheses that will need to be addressed by future studies. PMID:21349746

  13. 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

  14. 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

  15. 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

  16. 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. PMID:20100117

  17. A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II.

    PubMed

    Aiba, K; Yokochi, K; Ishikawa, T

    1986-01-01

    A three-year-old boy who had ataxic diplegia, mental retardation, horizontal pendular nystagmus with head nodding and abnormal auditory brain stem responses showing only waves I and II was presented. His clinical features coincided with recent reports in the Japanese literature of cases of a new syndrome that is congenital in origin and seen only in boys. PMID:3826555

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

    PubMed Central

    Gijsbers, Antoinet CJ; Lew, Janet YK; Bosch, Cathy AJ; Schuurs-Hoeijmakers, Janneke HM; van Haeringen, Arie; den Hollander, Nicolette S; Kant, Sarina G; Bijlsma, Emilia K; Breuning, Martijn H; Bakker, Egbert; Ruivenkamp, Claudia AL

    2009-01-01

    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. PMID:19436329

  19. 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

  20. Vaginal Diseases

    MedlinePlus

    Vaginal problems are some of the most common reasons women go to the doctor. They may have ... the problem is vaginitis, an inflammation of the vagina. The main symptom is smelly vaginal discharge, but ...

  1. Congenital mesenteric abnormality causing death in an infant with a concurrent diaphragmatic hernia.

    PubMed

    Herbst, Jonathon; Langlois, Neil E I

    2010-03-01

    The principle causes of infant death are natural causes [including the Sudden Infant Death Syndrome (SIDS)]. Natural deaths in infants are principally due to infections, cardiovascular anomalies and other metabolic or genetic disorders. Gastrointestinal pathology including anomalies may also cause death in this age group. This case describes a 6 month old boy who had undergone repair of a diaphragmatic hernia when aged 2 days, but who subsequently died as a result of a mesenteric abnormality with torsion of the gut and a large fibrous walled bowel containing hernial sac in the left pleural cavity. PMID:20084555

  2. Study of the abnormal cervical-vaginal cytology of sexually active young women living within the Waterloo region.

    PubMed

    Redmond, M; Schumacher, B

    1990-01-01

    618 women aged 13-36 attending a family planning clinic took part in a sexual health survey during 1985 and 1986. They were followed up for one year in order to ascertain whether an increase in atypical and dysplastic pap smears was linked to a certain lifestyle. The routine examination included a pap smear, a cervical swab for gonorrhea and other vaginal flora. Cultures for herpes and chlamydia were done. Benign atypia infection was treated followed by repeat pap smears 6-8 weeks and 2-3 months later. 7% of the women were virgins, 72% had smoked, and 62% presently smoked (an average of 9 cigarettes daily). Average age at first intercourse, was 16, and partners ranged from 1 to 35. Condom use was most prevalent: 15% used it "always", 20% "often", and 36% "occasionally". The oral contraceptive use pattern was: 60% "always" used it and 10% "often" relied on it. 1/4th used the rhythm method. 90% had never been pregnant, 9% had, and 1% were unsure. of 49 pregnancies 41 ended in abortion. After examining 581, 4 cases condylomata and 1 case of genital herpes were found. 60% of the women had normal cervical cytology, 32% showed atypia, and 8% displayed dysplasia. 22% of the atypias were linked to inflammation and 6% were related to yeast. 9% of repeat atypia or dysplasia was less severe by biopsy, while 54% turned out to be more severe than the pap smear results, although they tend to indicate more severe changes. 8% showed less severe cytology, and 59% more severe cytological changes. 78% of the group with mild dysplasia had smoked, as opposed to 22% that had "never smokes". Those with mild dysplasia were 4 times more likely to smoke at the time of their initial visit (79%) than nonsmokers (21%). 54% of those with normal pap smear reported "often" or "always" using condoms, whereas only 10% of the group with dysplasia reported similar use pattern. These findings uphold the practice of following the repeated atypical, or initial dysplastic pap smear results with

  3. 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.

  4. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects.

    PubMed

    Williams, J H; Birrell, J; Van Wilpe, E

    2005-09-01

    the ventral rectal serosa, and the 'prolapsed' tissue was found to be expanded vaginal wall. The bitch was euthanased and necropsied, Histological examination confirmed lymphangiosarcomatous invasion of the submucosal and muscular layers of the retroperitoneal, traumatised, prolapsed part of the vagina, the urethra and the ventral rectal wall. The broad ligament was diffusely invaded with tumour which had proliferated into the caudal abdominal space, and 3 small intra-trabecular foci of tumour were found in the right popliteal lymph node near the hilus. Mitotic figures were generally scarce. There was mild subcutaneous oedema of the ventral trunk extending from the axillae to the inner proximal thighs, which had not been evident clinically, and the lymph nodes (peripheral more so than internal) microscopically showed marked trabecular and perivascular fibrosis especially in hilar regions. Other congenital defects were hepatic capsular and central venous fibrosis with lymphatic duplication and dilatation in all areas of connective tissue, ventrally-incongruous half-circular tracheal rings, and multifocal renal dysplasia affecting the right kidney. There was locally-extensive subacute pyelonephritis of the left kidney. PMID:16300186

  5. 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. PMID:12136233

  6. 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 ...

  7. 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…

  8. Abnormal vaginal flora in low-risk pregnant women cared for by a public health service: prevalence and association with symptoms and findings from gynecological exams.

    PubMed

    Gondo, Danielle Cristina Alves Feitosa; Duarte, Marli Teresinha Cassamassimo; da Silva, Márcia Guimarães; de Lima Parada, Cristina Maria Garcia

    2010-01-01

    This study identifies the prevalence of vaginal flora alterations in low-risk pregnant women and their association with reported symptoms and gynecological exams. This quantitative, descriptive, cross-sectional study was conducted in public primary care service units in Botucatu, SP, Brazil from 2006 to 2008 with 289 pregnant women from a stratified sample obtained by sampling by care unit. Tests of vaginal content were performed using Gram's method and testing for Trichomonas vaginalis using Diamond's medium. The prevalence of altered vaginal flora was 49.5%, of which bacterial vaginosis (20.7%), vaginal candidiasis (11.8%) and intermediate flora (11.1%) were the most frequent, not considering associations. Results revealed a high prevalence of vaginal flora alterations with little relation to symptoms, but in agreement with findings from the gynecological exams. Considering undesirable maternal and perinatal outcomes and feasible laboratory practices, the establishment of a routine for diagnosing vaginal flora alterations in low-risk pregnant women is suggested. PMID:21120411

  9. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  10. [Vaginal ecosystem].

    PubMed

    Kovachev, S

    2011-01-01

    Vaginal flora plays an important role in preventing genital and urinary tract infections in women. In fact every little movement of obligate and/or facultative vaginal micro flora over the normal limits for this ecosystem causes vaginal disbacteriosis. Vaginal disbacteriosis is a risk condition which can cause infection. Thus an accurate understanding of the composition and ecology of the ecosystem is important to understanding the etiology of urogenital diseases. The aim of this review is to update knowledge about vaginal micro biota, the Lactobacillus species that dominate normal vaginal flora and the way they suppressed infectivity and/or proliferation of pathogenic bacteria. A Medline (Pub med) and medical literature search from 1990-2010 for relevant articles was performed and the most informative articles were selected. Lactic acid bacteria determinate the most of defense mechanisms of women vagina by concurrent adhesion, producing lactic acid, antimicrobial products, hydrogen peroxide and by local interactions with the innate and cell-mediated immune systems and plasminogen-plasmin system. All this mechanisms promotes the stability of the normal vaginal micro flora. Every Lactobacillus species play a different role in host--defense vaginal system. The presence of different Lactobacillus species with the normal vaginal micro flora is a major determinant to the stability of this micro flora and for urogenital health. PMID:21916315

  11. 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.

  12. [Vaginal dryness].

    PubMed

    Mares, P; Hoffet, M; Rousseau, O; Ripart-Neveu, S

    2001-01-31

    Vaginal dryness is one of the "little problems" that are too often, ignored. The disorder essentially manifests at the time of menopause, but can occur at other times, such as with oral contraception, following vaginal infection, after treatment for infection, etc. Screening for the disorder should become routine. Management should have precise objectives: cure of the infection and restablishment of the vaginal flora in order to reconstitute a natural balance. Treatment can be adapted for each patient to obtain effective and lasting results. PMID:11252940

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

    PubMed Central

    Beggs, A H; Neumann, P E; Arahata, K; Arikawa, E; Nonaka, I; Anderson, M S; Kunkel, L M

    1992-01-01

    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 1/3500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, we 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. Images PMID:1731332

  14. 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.

  15. Vaginal Pessary

    MedlinePlus

    ... your vagina). A pessary can also help many women who have stress urinary incontinence (the leaking of urine when you cough, strain or exercise). Pregnant women who have incontinence can also use a vaginal ...

  16. 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 ...

  17. 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 ...

  18. 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 ...

  19. Hysterectomy - vaginal - discharge

    MedlinePlus

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

  20. Hysterectomy - vaginal - discharge

    MedlinePlus

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

  1. 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.

  2. Face inversion superiority in a case of prosopagnosia following congenital brain abnormalities: what can it tell us about the specificity and origin of face-processing mechanisms?

    PubMed

    Schmalzl, Laura; Palermo, Romina; Harris, Irina M; Coltheart, Max

    2009-05-01

    In the current study we describe J.M., a 15-year-old boy with a history of congenital brain abnormalities and concomitant visual-processing impairments. J.M.'s most prominent deficit is his impaired face recognition, but formal testing also revealed deficits in other domains of visual processing. One aspect that emerged from J.M.'s visual-processing assessment was a tendency to focus on local features and to rely on them for the encoding and identification of visual stimuli including geometric figures, objects, words, and inverted faces. In spite of this general tendency, he was impaired on tasks requiring the encoding of local features in upright faces. Moreover, his ability to distinguish between features in upright faces was significantly worse than that for inverted faces, the opposite pattern to that typically found in normal participants. What is it that keeps J.M. from applying his otherwise intact feature-based processing to upright faces? As proposed in previous reports of face inversion superiority in individuals with acquired face recognition impairments, we suggest that J.M.'s "inverted-face inversion effect" speaks for a specialized cognitive system that is mandatorily engaged by upright (but not inverted) faces, even when it is impaired and therefore maladaptive. In addition, since J.M. suffered from congenital brain abnormalities affecting the normal development of his face-processing skills, his performance suggests that specialized and mandatorily activated face-processing mechanisms are not entirely experience dependent, and that they can remain modular during development even if they don't function properly and are therefore maladaptive. PMID:19657795

  3. 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. APMP22point 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 inTr(J)mice. Although synapses appeared to be normally innervated even in end-stageTr(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 characterizesTr(J)mice results in structural and functional deficits of the developing NMJ. PMID:26921370

  4. Vaginal microbial flora in normal young women.

    PubMed

    Goldacre, M J; Watt, B; Loudon, N; Milne, L J; Loudon, J D; Vessey, M P

    1979-06-01

    Vaginal swabs were taken from 1498 women attending a family planning clinic. The flora was assessed in the absence of any information about the women to whom the swabs related. Yeasts and fungi were present in 311 women (21%) and were no more prevalent among "pill" users than others. Candida albicans was significantly associated with vulval itching and with a vaginal discharge described as heavier than normal or curdy on clinical examination, though these abnormalities were present in only a minority of women with the organism. Trichomonas vaginalis was found in 14 women (1%) and was associated with abnormalities of vaginal discharge in all but one. Gram-negative anaerobic bacilli were significantly more common in women with a troublesome vaginal discharge and those who used an intrauterine device than others. No associations were found between fungi other than C albicans or the other bacteria sought and either symptoms or clinical abnormalities of vaginal discharge. PMID:380743

  5. 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 ...

  6. Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism.

    PubMed

    Hsu, Jung-Yu C; Stein, Stuart A; Xu, Xiao-Ming

    2008-11-01

    Thyroid hormone deficiency may cause severe neurological disorders resulting from developmental deficits of the central nervous system. The mutant hyt/hyt mouse, characterized by fetal-onset, life-long hypothyroidism resulting from a point mutation of the thyroid-stimulating hormone receptor of the thyroid gland, displays a variety of abnormalities in motor behavior that are likely associated with dysfunctions of specific brain regions and a defective corticospinal tract (CST). To test the hypothesis that fetal and neonatal hypothyroidism cause abnormal CST development, the growth of the CST was investigated in hypothyroid hyt/hyt mice and their euthyroid progenitors, the BALB/cByJ mice. Anterograde labeling with biotinylated dextran amine demonstrated a decrease in the number of CST axons in the hyt/hyt mouse at the first lumbar level at postnatal day (P) 10. After retrograde tracing with fast blue (FB), fewer FB-labeled neurons were found in the motor cortex, the red nucleus, and the lateral vestibular nucleus of the hyt/hyt mouse. At the fourth lumbar level, the hyt/hyt mouse also showed smaller CST cross-sectional areas and significantly lower numbers of unmyelinated axons, myelinated axons, and growth cones within the CST during postnatal development. At P10, the hyt/hyt mouse demonstrated significantly lower immunoreactivity of embryonic neural cell adhesion molecule in the CST at the seventh cervical level, whereas the expression of growth-associated protein 43 remained unchanged. Our study demonstrated an abnormal development of the CST in the hyt/hyt mouse, manifested by reduced axon quantity and retarded growth pattern at the lumbar spinal cord. PMID:18543337

  7. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

    PubMed Central

    Telvi, L; Ion, A; Carel, J C; Desguerre, I; Piraud, M; Boutin, A M; Feingold, J; Ponsot, G; Fellous, M; McElreavey, K

    1996-01-01

    An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11-->p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented with short stature but were otherwise phenotypically normal. The abnormal X chromosome was inactive in the majority of cells examined. Southern blot dosage analysis indicated a duplication of distal Xp sequences. The proximal breakpoint is located between DXS28 and DXS41, and is therefore at least 2 Mb distal to the DSS locus. The relationship between the phenotype and the Xp duplication is discussed. Images PMID:8880579

  8. 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

  9. 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. PMID:26704658

  10. 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

  11. Vaginal yeast infection

    MedlinePlus

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

  12. Vaginal yeast infection

    MedlinePlus

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

  13. Epidermolysis bullosa and congenital pyloric atresia

    PubMed Central

    Mithwani, Anwar Adil; Hashmi, Asif; Adil, Salman

    2013-01-01

    The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. PMID:24068383

  14. Vaginal sponge and spermicides

    MedlinePlus

    Birth control - over the counter; Contraceptives - over the counter ... include irritation and allergic reactions. VAGINAL SPONGE Vaginal contraceptive sponges are soft sponges covered with a spermicide. ...

  15. 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

  16. 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.

  17. 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

  18. 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

  19. 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

  20. Menstrual-like vaginal bleeding in prepubertal girls: an unexplained condition

    PubMed Central

    Merckx, M.; Weyers, S.; Santegoeds, R.; De Schepper, J.

    2011-01-01

    Unexplained menstrual-like cyclic vaginal bleeding, lasting for several days and without any uterine and vaginal anomaly, is a rare condition in prepubertal girls. Only small series (containing four to eleven cases) have been described in literature. We report our in nine girls presenting with vaginal bleeding without any abnormality at gynaecological, hormonal and echographic examination. PMID:24753876

  1. Vaginal sponge and spermicides

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/004003.htm Vaginal sponge and spermicides To use the sharing features on this page, please enable JavaScript. Spermicides and vaginal sponges are two over-the-counter birth control methods ...

  2. Vaginal bleeding between periods

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/003156.htm Vaginal bleeding between periods To use the sharing features ... this page, please enable JavaScript. This article discusses vaginal bleeding that occurs between a woman's monthly menstrual ...

  3. Vaginal birth - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100198.htm Vaginal birth - series—Normal anatomy To use the sharing features ... vaginal delivery. Please keep in mind that every birth is unique, and your labor and delivery may ...

  4. 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 ...

  5. Management of aerobic vaginitis.

    PubMed

    Tempera, Gianna; Furneri, Pio Maria

    2010-01-01

    Aerobic vaginitis is a new nonclassifiable pathology that is neither specific vaginitis nor bacterial vaginosis. The diversity of this microbiological peculiarity could also explain several therapeutic failures when patients were treated for infections identified as bacterial vaginosis. The diagnosis 'aerobic vaginitis' is essentially based on microscopic examinations using a phase-contrast microscope (at ×400 magnification). The therapeutic choice for 'aerobic vaginitis' should take into consideration an antibiotic characterized by an intrinsic activity against the majority of bacteria of fecal origin, bactericidal effect and poor/absent interference with the vaginal microbiota. Regarding the therapy for aerobic vaginitis when antimicrobial agents are prescribed, not only the antimicrobial spectrum but also the presumed ecological disturbance on the anaerobic and aerobic vaginal and rectal microbiota should be taken into a consideration. Because of their very low impact on the vaginal microbiota, kanamycin or quinolones are to be considered a good choice for therapy. PMID:21051843

  6. 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 ...

  7. 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 ...

  8. 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

  9. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

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

  10. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  11. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  12. 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. PMID:24326587

  13. 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

  14. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  15. Reconstruction of vaginal agenesis.

    PubMed

    Ozkan, Ozlenen; Erman Akar, Münire; Ozkan, Omer; Doğan, N Utku

    2011-06-01

    Vaginal ageneses are by no means rare anomalies. Complete Mullerian agenesis is the most common reason for vaginal agenesis requiring reconstruction. Patients usually present with pain, hematocolpos, or hematometra in puberty, and later with amenorrhea and dyspareunia. Detailed information is given here regarding etiologies, timing of surgery, and current treatment options for vaginal agenesis. Outcomes and short- and long-term complications of recent treatment options are also discussed. PMID:21372677

  16. 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

  17. Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

    SciTech Connect

    Tharapel, A.T.; Zhao, J.; Smith, M.E.

    1994-09-01

    Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient was referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.

  18. Vaginal itching and discharge - child

    MedlinePlus

    ... vagina or the skin around the vagina. Vaginal yeast infection Vaginitis . Vaginitis in girls before puberty is ... recommend drugs, such as: Cream or lotion for yeast infections Certain allergy medicines (antihistamines) for relief of ...

  19. Characterization of Human Vaginal Mucosa Cells for Autologous In Vitro Cultured Vaginal Tissue Transplantation in Patients with MRKH Syndrome

    PubMed Central

    Nodale, Cristina; D'Amici, Sirio; Maffucci, Diana; Ceccarelli, Simona; Monti, Marco; Benedetti Panici, Pierluigi; Romano, Ferdinando; Angeloni, Antonio; Marchese, Cinzia

    2014-01-01

    Mayer-Rokitansky-Küster-Hauser (MRKH) is a rare syndrome characterized by congenital aplasia of the uterus and vagina. The most common procedure used for surgical reconstruction of the neovagina is the McIndoe vaginoplasty, which consists in creation of a vaginal canal covered with a full-thickness skin graft. Here we characterized the autologous in vitro cultured vaginal tissue proposed as alternative material in our developed modified McIndoe vaginoplasty in order to underlie its importance in autologous total vaginal replacement. To this aim human vaginal mucosa cells (HVMs) were isolated from vaginal mucosa of patients affected by MRKH syndrome and characterized with respect to growth kinetics, morphology, PAS staining, and expression of specific epithelial markers by immunofluorescence, Western blot, and qRT-PCR analyses. The presence of specific epithelial markers along with the morphology and the presence of mucified cells demonstrated the epithelial nature of HMVs, important for an efficient epithelialization of the neovagina walls and for creating a functional vaginal cavity. Moreover, these cells presented characteristics of effective proliferation as demonstrated by growth kinetics assay. Therefore, the autologous in vitro cultured vaginal tissue might represent a highly promising and valid material for McIndoe vaginoplasty. PMID:25162002

  20. Intrapartum Diagnosis and Treatment of Longitudinal Vaginal Septum

    PubMed Central

    de França Neto, Antonio Henriques; Nóbrega, Bianca Virgolino; Clementino Filho, Jessé; do Ó, Tiago Cavalcanti; de Amorim, Melania Maria Ramos

    2014-01-01

    Longitudinal vaginal septum is a rare Müllerian malformation that may be associated with dyspareunia, dysmenorrhea, primary amenorrhea, and infertility. In this report, the authors present a case of longitudinal vaginal septum in a 15-year-old patient with a full-term pregnancy whose diagnosis was only made during labor following bidigital vaginal and speculum examination. Septoplasty was performed during the second stage of labor. Both mother and child progressed satisfactorily and were discharged from hospital in good health. Six months later, ultrasonography, hysterosalpingography, and hysteroscopy were carried out and no other associated abnormality was found. PMID:24891963

  1. Vaginal drug distribution modeling.

    PubMed

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

    2015-09-15

    This review presents and applies fundamental mass transport theory describing the diffusion and convection driven mass transport of drugs to the vaginal environment. It considers sources of variability in the predictions of the models. It illustrates use of model predictions of microbicide drug concentration distribution (pharmacokinetics) to gain insights about drug effectiveness in preventing HIV infection (pharmacodynamics). The modeling compares vaginal drug distributions after different gel dosage regimens, and it evaluates consequences of changes in gel viscosity due to aging. It compares vaginal mucosal concentration distributions of drugs delivered by gels vs. intravaginal rings. Finally, the modeling approach is used to compare vaginal drug distributions across species with differing vaginal dimensions. Deterministic models of drug mass transport into and throughout the vaginal environment can provide critical insights about the mechanisms and determinants of such transport. This knowledge, and the methodology that obtains it, can be applied and translated to multiple applications, involving the scientific underpinnings of vaginal drug distribution and the performance evaluation and design of products, and their dosage regimens, that achieve it. PMID:25933938

  2. 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. PMID:21437824

  3. Vaginal dryness alternative treatments

    MedlinePlus

    ... it would seem that a diet rich in soy foods would improve symptoms of vaginal dryness. There continues ... the ideal sources or dose is still unknown. Soy foods include tofu, soy milk, and whole soybeans (also ...

  4. Anterior vaginal wall repair

    MedlinePlus

    Lentz GM. Anatomic defects of the abdominal wall and pelvic floor: abdominal and inguinal hernias, cystocele, urethrocele, ... uterine and vaginal prolapse: diagnosis and management. In: Lentz GM, Lobo RA, Gershenson DM, Katz VL, eds. ...

  5. 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. PMID:26189799

  6. Anterior vaginal wall repair

    MedlinePlus

    ... Cystocele Anterior vaginal wall repair (surgical treatment of urinary incontinence) - series References Lentz GM. Anatomic defects of the ... 72. Read More Anterior Inflatable artificial sphincter Stress urinary incontinence Urinary catheters Urinary incontinence - injectable implant Urinary incontinence - ...

  7. 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

  8. 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

  9. 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

  10. OHVIRA syndrome: rare cause of chronic vaginal discharge in an unmarried female.

    PubMed

    Nigam, Aruna; Raghunandan, Chitra; Yadav, Reena; Tomer, Shaili; Anand, Rama

    2011-09-01

    Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) is a rare congenital anomaly. We present a case of a 22-year-old unmarried female with this syndrome presenting with chronic purulent vaginal discharge. The uniqueness about the case is its much delayed presentation. PMID:20726998

  11. 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

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. Vaginal calculi in the dolphin.

    PubMed

    Sawyer, J E; Walker, W A

    1977-10-01

    Examination of the reproductive tract of a mature spotted dolphin, Stenella attenuata , revealed 13 vaginal calculi, composed primarily of calcium phosphate compounds. Vaginal calculi also were found in two mature Lagenorhynchus obliquidens and in six mature Delphinus delphis . PMID:24228951

  16. Vaginal itching and discharge - child

    MedlinePlus

    Common causes of vaginal itching and discharge in young girls include: Chemicals such as perfumes and dyes in ... in girls before puberty is common. If a young girl has a sexually transmitted vaginal infection, however, sexual ...

  17. 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 ...

  18. An unusual presentation of congenital bronchoesophageal fistula.

    PubMed

    Atalabi, O M; Falade, A G; Obajimi, O M; Akinyinka, O O; Lagundoye, S B; Ibinaiye, P O

    2004-01-01

    We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features suggestive of congenital diaphragmatic hernia. Emergency limited barium swallow done was initially reported as a case of diaphragmatic hernia. Autopsy revealed pus within the right lung, and a fistulous connection between the oesophagus and an intralobar sequestrated lung. No diaphragmatic hernia or intra-abdominal organ abnormality were seen, and an occipital meningomyelocoele was also confirmed. PMID:15171538

  19. Congenital scoliosis associated with agenesis of the uterine cervix. Case report

    PubMed Central

    Carlomagno, Giorgio; Di Blasi, Arturo; Monica, Matteo Della

    2004-01-01

    Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly). Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet), came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis). This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected. PMID:15228625

  20. 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 ...

  1. 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

  2. Vaginal Cancer Overview

    MedlinePlus

    ... the epithelium, which contains cells called squamous epithelial cells. The vaginal wall, underneath the epithelium, is made up of connective tissue, involuntary muscle tissue, lymph vessels, and nerves. About ... begins when normal cells in the vagina change and grow uncontrollably, forming ...

  3. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  4. 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 ...

  5. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  6. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  7. 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 ...

  8. Congenital rubella

    MedlinePlus

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

  9. 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

  10. Vaginal Vault Prolapse

    PubMed Central

    Uzoma, Azubuike; Farag, K. A.

    2009-01-01

    Introduction. Vaginal vault prolapse is a common complication following vaginal hysterectomy with negative impact on women's quality of life due to associated urinary, anorectal and sexual dysfunction. A clear understanding of the supporting mechanism for the uterus and vagina is important in making the right choice of corrective procedure. Management should be individualised, taking into consideration the surgeon's experience, patients age, comorbidities, previous surgery and sex life. Result. Preexisting pelvic floor defect prior to hysterectomy is the single most important risk factor for vault prolapse. Various surgical techniques have been advanced at hysterectomy to prevent vault prolapse. Studies have shown the McCall's culdoplasty under direct visualisation to be superior. Vault prolapse repair rely on either the use of patient's tissue or synthetic materials and can be carried out abdominally or vaginally. Sacrospinous fixation and abdominal sacrocolpopexy are the commonly performed procedures, with literature in favour of abdominal sacrocolpopexy over sacrospinous fixation due to its reported higher success rate of about 90%. Other less commonly performed procedures include uterosacral ligament suspension and illiococcygeal fixation, both of which are equally effective, with the former having a high risk of ureteric injury. Colpoclesis will play a greater role in the future as the aging population increases. Mesh procedures are gaining in popularity, and preliminary data from vaginal mesh procedures is encouraging. Laparoscopic techniques require a high level of skill and experience. There are many controversies on the mechanism of prolapse and management techniques, which we have tried to address in this article. Conclusion. As the aging population increases, the incidence of prolapse will also rise, older techniques using native tissue will continue, while new techniques using the mesh needs to be studied further. The later may well be the way forward

  11. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  12. 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.

  13. Vaginal or uterine bleeding - overview

    MedlinePlus

    ... of the vaginal bleeding, including: Dysfunctional uterine bleeding Endometriosis Uterine fibroids Ectopic pregnancy Polycystic ovary syndrome Treatment may include hormonal medicines, pain relievers, and possibly ...

  14. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  15. Acardiac anceps: a rare congenital anomaly

    PubMed Central

    Nigam, Aruna; Agarwal, Rohini; Saxena, Pikee; Barla, Jaya

    2014-01-01

    Acardiac twin is a rare congenital anomaly and is exclusively associated with monochorionic twin pregnancies. The abnormalities occur due to abnormal communication between the two fetuses in the form of arterioarterial and venovenous communications, resulting in a grossly abnormal acardiac twin with reduction anomalies mainly of the upper body and gross oedema. Since no two acardiac twins are alike, this case report will add to the acardiac twin anomaly spectrum. PMID:24717594

  16. Prenatal diagnosis of congenital mesoblastic nephroma.

    PubMed

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  17. Management of adolescents with congenital adrenal hyperplasia

    PubMed Central

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

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

  18. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  19. Biotherapeutic agents and vaginal health.

    PubMed

    Al-Ghazzewi, F H; Tester, R F

    2016-07-01

    Treatment of vaginal infection requires different drugs although the recurrence rate post treatment remains high due to adverse effects on the beneficial microbiota. Thus, there are clear clinical advantages for the use of biotherapeutic agents (prebiotics and/or probiotics) for treating these infections. Pre- and probiotic beneficial effects can be delivered topically or systemically. In general, both approaches have the potential to optimize, maintain and restore the ecology of the vaginal ecosystem. Specific carbohydrates provide a therapeutic approach for controlling infections by stimulating the growth of the indigenous lactobacilli but inhibiting the growth and adhesion of pathogens to the vaginal epithelial cells. Overall, little evidence exists to promote the prevention or treatment of vaginal disease with prebiotic carbohydrates in formulations such as pessaries, creams or douches. However, recent reports have promoted prebiotic applications in ecosystems other than the gut and include the mouth, skin and vagina. This review focuses on the utilization of pre- and probiotics for vaginal health. PMID:26757173

  20. Uterus didelphys with partial vaginal septum and distal vaginal agenesis: an unusual anomaly.

    PubMed

    Singhal, Savita Rani; Lakra, Pinkey; Bishnoi, Pushpa; Rohilla, Seema; Dahiya, Pushpa; Nanda, Smiti

    2013-02-01

    Complex malformations of female genital tract are not so common. Their correct identification is of paramount importance for appropriate management. A thorough knowledge of embryology, pre-operative imaging with MRI and examination under anaesthesia is essential to identify accurately the constellation of anomalies and to plan appropriate management. This case reports the coexistence of Müllerian abnormality with vaginal agenesis in an 18 years old girl which was managed by dissecting the lower half of vagina and pull-through vaginoplasty. PMID:23374522

  1. 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 ...

  2. Vaginoscopic resection of vaginal septum.

    PubMed

    Nassif, Joseph; Al Chami, Ali; Abu Musa, Antoine; Nassar, Anwar H; Kurdi, Ahmad; Ghulmiyyah, Labib

    2012-12-01

    We report the resection of a vaginal septum while preserving the virginity of a 12-year-old girl with Herlyn-Werner-Wunderlich Syndrome (HWWS) having a didelphys uterus, obstructed hemivagina, and an ipsilateral renal agenesis with follow-up at 18 months. Successful resection of the vaginal septum with conservation of the hymenal ring and complete drainage of both the hematocolpos and the hematometra were achieved. Cyclic dysmenorrhea and pelvic pain were completely resolved on follow-up visits at 4, 6, and 18 months. Office hysteroscopy performed during the last follow-up visit revealed a patent vaginal vault without evidence of adenosis or recurrence of the vaginal septum. Vaginoscopy is a safe, convenient, and efficient diagnostic and therapeutic modality that can be used in the management of patients with an obstructed hemivagina. It maintains the patient's virginity and it is useful in patients with a restrictive vaginal opening or narrow vaginal canal. Furthermore, the hysteroscopic excision of the vaginal septum offers minimal risk of recurrence of the septal defect. PMID:23315718

  3. Mucoadhesive vaginal drug delivery systems.

    PubMed

    Acartürk, Füsun

    2009-11-01

    Vaginal delivery is an important route of drug administration for both local and systemic diseases. The vaginal route has some advantages due to its large surface area, rich blood supply, avoidance of the first-pass effect, relatively high permeability to many drugs and self-insertion. The traditional commercial preparations, such as creams, foams, gels, irrigations and tablets, are known to reside in the vaginal cavity for a relatively short period of time owing to the self-cleaning action of the vaginal tract, and often require multiple daily doses to ensure the desired therapeutic effect. The vaginal route appears to be highly appropriate for bioadhesive drug delivery systems in order to retain drugs for treating largely local conditions, or for use in contraception. In particular, protection against sexually-transmitted diseases is critical. To prolong the residence time in the vaginal cavity, bioadhesive therapeutic systems have been developed in the form of semi-solid and solid dosage forms. The most commonly used mucoadhesive polymers that are capable of forming hydrogels are synthetic polyacrylates, polycarbophil, chitosan, cellulose derivatives (hydroxyethycellulose, hydroxy-propylcellulose and hydroxypropylmethylcellulose), hyaluronic acid derivatives, pectin, tragacanth, carrageenan and sodium alginate. The present article is a comprehensive review of the patents related to mucoadhesive vaginal drug delivery systems. PMID:19925443

  4. A rare case of giant vaginal fibromyoma

    PubMed Central

    Asnani, Mona; Srivastava, Kumkum; Gupta, Hem Prabha; Kunwar, Shipra; Srivastava, A N

    2016-01-01

    Summary Vaginal fibroids rarely exist as a primary vaginal tumor. Approximately 300 cases have been reported in the literature. Here we are reporting a rare case of giant vaginal fibromyoma. It was diagnosed as cervical fibroid polyp preoperatively but found to be vaginal fibromyoma peroperatively. PMID:26989649

  5. Vaginal Leiomyoma in a Dog

    PubMed Central

    Kang, T. B.; Holmberg, D. L.

    1983-01-01

    The surgical treatment of vaginal leiomyoma in a seven year old Blue Heeler bitch is described. A smooth, 12 cm diameter submucosal, intraluminal, firm mass was found on vaginal examination. It appeared to arise from the left ventral vaginal wall, cranial to the clitoris but caudal to the cervix. There was no history of urinary problems and the dog was normal in all other aspects. The treatment was surgical excision of the mass via an episiotomy. Histological examination indicated a leiomyoma. The differential diagnoses, possible etiologies and control or prevention of the condition by ovariohysterectomy are also discussed. ImagesFigure 1.Figure 2. PMID:17422296

  6. Vaginal ultrasound in assisted reproduction.

    PubMed

    Wikland, M

    1992-06-01

    Vaginal scanning of the ovaries and the uterus is a diagnostic and monitoring tool of utmost importance in assisted conception. Although the value of ultrasound for monitoring follicular growth has been questioned, few groups working on assisted conception do not use it. Follicle aspiration under the guidance of vaginal sonography is the method of choice. With such a simple and safe technique available, using laparoscopy for retrieving oocytes for assisted conception cannot be justified. The introduction of ultrasound-guided transvaginal retrograde tubal catheterization has meant that laparoscopic GIFT and ZIFT procedures will probably soon be unnecessary. Vaginal sonography is one of the most clinically important diagnostic instruments in assisted conception. PMID:1424325

  7. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  8. Isolated Partial Congenital Absence of the Pericardium: A Familial Presentation.

    PubMed

    Palau, Patricia; Domínguez, Eloy; García-González, Pilar; Gallego, Jorge; Bosch, María José; Sieso, Eduardo

    2016-08-01

    Congenital defects of the pericardium are uncommon heart abnormalities. Most of the patients are asymptomatic and are usually diagnosed incidentally. Complications are more common in partial absence than in complete absence of the pericardium; thus, this congenital defect should be identified because of the associated risk of sudden death. We report the first mention in the literature, to our knowledge, of a 3-generation familial presentation of isolated congenital partial absence of the pericardium with similar physical examination and radiological findings. PMID:26774230

  9. 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 ...

  10. 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 ...

  11. 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.

  12. Urinary incontinence - vaginal sling procedures

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/007376.htm Urinary incontinence - vaginal sling procedures To use the sharing features ... are types of surgeries that help control stress urinary incontinence . This is urine leakage that happens when you ...

  13. 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

  14. 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

  15. 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.

  16. 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.

  17. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  18. 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

  19. Primary vaginal mucinous adenocarcinoma of gastric type arising in adenosis: a report of 2 cases, 1 associated with uterus didelphys.

    PubMed

    Talia, Karen L; Scurry, James; Manolitsas, Thomas; McCluggage, W Glenn

    2012-03-01

    We report 2 cases of primary vaginal mucinous adenocarcinoma arising in adenosis in nondiethylstilbestrol-exposed women, 1 with uterus didelphys. Both tumors exhibited morphologic and immunohistochemical features (MUC6 and/or HIK 1083 positivity) identical to the recently described cervical gastric-type adenocarcinoma, a subtype of mucinous adenocarcinoma that is non-human papillomavirus related and possibly related to adenoma malignum. Both neoplasms were intensely p53 positive, suggesting that TP53 mutation may be implicated in their development. We believe that the vaginal tumors arose from adenosis through atypical adenosis, as benign and atypical glands were present at the periphery of the neoplasms. In reporting these cases, we discuss atypical adenosis and other types of non-diethylstilbestrol-associated vaginal adenocarcinomas. At least 9 other examples of primary vaginal, or more uncommonly cervical, adenocarcinomas arising in non-diethylstilbestrol-exposed women with congenital genitourinary malformations have been reported, suggesting a probable causal association between congenital malformation, vaginal adenosis, and vaginal adenocarcinoma. PMID:22317878

  20. 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

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

    PubMed Central

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

    2013-01-01

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

  2. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  3. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  4. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. Nail abnormalities

    MedlinePlus

    Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails. ... Fungus or yeast cause changes in the color, texture, and shape of the nails. Bacterial infection may ...

  9. 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

  10. Neurosurgical management of congenital malformations of the brain.

    PubMed

    Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

    2011-08-01

    Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

  11. 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

  12. Effects of contraceptive method on the vaginal microbial flora: a prospective evaluation.

    PubMed

    Gupta, K; Hillier, S L; Hooton, T M; Roberts, P L; Stamm, W E

    2000-02-01

    A prospective evaluation of 331 university women who were initiating use of oral contraceptive pills (OCPs), a cervical cap, diaphragm-spermicide, or other spermicidal methods was done to assess the effects of commonly used contraceptive methods on the vaginal flora. Vaginal introital cultures were performed at baseline and then weekly for 1 month. The prevalence of Escherichia coli vaginal colonization and of abnormal vaginal Gram stain scores (Nugent criteria) increased significantly among women using a cervical cap or diaphragm-spermicide but not among women using OCPs. Women with E. coli colonization were significantly more likely to have an abnormal Nugent score and an absence of lactobacilli. In a multivariate model, use of spermicidal contraception in the preceding week was associated with an abnormal Nugent score and with colonization with E. coli, Enterococcus species, and anaerobic gram-negative rods. Thus, spermicidal methods of contraception are associated with alterations of the vaginal microflora that consequently may predispose women to genitourinary infections. PMID:10669343

  13. Vaginal itching and discharge - adult and adolescent

    MedlinePlus

    ... to vaginal dryness and other symptoms ( atrophic vaginitis ). Forgotten tampon or foreign body, which may cause a ... In: Rakel RE, Rakel D, eds. Textbook of Family Medicine . 9th ed. Philadelphia, PA: Elsevier; 2016:chap ...

  14. 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

  15. Paecilomyces lilacinus Vaginitis in an Immunocompetent Patient

    PubMed Central

    D’Amico, Ron; Sutton, Deanna A.; Rinaldi, Michael G.

    2003-01-01

    Paecilomyces lilacinus, an environmental mold found in soil and vegetation, rarely causes human infection. We report the first case of P. lilacinus isolated from a vaginal culture in a patient with vaginitis. PMID:14519255

  16. [Congenital myasthenic syndromes; French experience].

    PubMed

    Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel

    2014-02-01

    Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients. PMID:26263703

  17. 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

  18. 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

  19. 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

  20. 21 CFR 884.3575 - Vaginal pessary.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Vaginal pessary. 884.3575 Section 884.3575 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... Vaginal pessary. (a) Identification. A vaginal pessary is a removable structure placed in the vagina...

  1. 21 CFR 884.3575 - Vaginal pessary.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Vaginal pessary. 884.3575 Section 884.3575 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... Vaginal pessary. (a) Identification. A vaginal pessary is a removable structure placed in the vagina...

  2. 21 CFR 884.3575 - Vaginal pessary.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Vaginal pessary. 884.3575 Section 884.3575 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... Vaginal pessary. (a) Identification. A vaginal pessary is a removable structure placed in the vagina...

  3. 21 CFR 884.3575 - Vaginal pessary.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Vaginal pessary. 884.3575 Section 884.3575 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... Vaginal pessary. (a) Identification. A vaginal pessary is a removable structure placed in the vagina...

  4. 21 CFR 884.3575 - Vaginal pessary.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Vaginal pessary. 884.3575 Section 884.3575 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL... Vaginal pessary. (a) Identification. A vaginal pessary is a removable structure placed in the vagina...

  5. 21 CFR 884.5920 - Vaginal insufflator.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Vaginal insufflator. 884.5920 Section 884.5920 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... § 884.5920 Vaginal insufflator. (a) Identification. A vaginal insufflator is a device used to...

  6. 21 CFR 884.5920 - Vaginal insufflator.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Vaginal insufflator. 884.5920 Section 884.5920 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... § 884.5920 Vaginal insufflator. (a) Identification. A vaginal insufflator is a device used to...

  7. 21 CFR 884.5920 - Vaginal insufflator.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Vaginal insufflator. 884.5920 Section 884.5920 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... § 884.5920 Vaginal insufflator. (a) Identification. A vaginal insufflator is a device used to...

  8. 21 CFR 884.5920 - Vaginal insufflator.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Vaginal insufflator. 884.5920 Section 884.5920 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... § 884.5920 Vaginal insufflator. (a) Identification. A vaginal insufflator is a device used to...

  9. 21 CFR 884.5920 - Vaginal insufflator.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Vaginal insufflator. 884.5920 Section 884.5920 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... § 884.5920 Vaginal insufflator. (a) Identification. A vaginal insufflator is a device used to...

  10. 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

  11. Accuracy of the Clinical Diagnosis of Vaginitis Compared to a DNA Probe Laboratory Standard

    PubMed Central

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

    2009-01-01

    Objective To estimate the accuracy of the clinical diagnosis of the three most common causes of acute vulvovaginal symptoms (bacterial vaginosis, candidiasis vaginitis, and trichomoniasis vaginalis) using a traditional, standardized clinical diagnostic protocol compared to a DNA probe laboratory standard. Methods This prospective clinical comparative study had a sample of 535 active duty United States military women presenting with vulovaginal symptoms. Clinical diagnoses were made by research staff using a standardized protocol of history, physical examination including pelvic examination, determination of vaginal pH, vaginal fluid amines test, and wet-prep microscopy. Vaginal fluid samples were obtained for DNA analysis. The research clinicians were blinded to the DNA results. Results The participants described a presenting symptom of abnormal discharge (50%), itching/irritation (33%), malodor (10%), burning (4%), or others such as vulvar pain and vaginal discomfort. According to laboratory standard, there were 225 cases (42%) of bacterial vaginosis 76 cases (14%) of candidiasis vaginitis, 8 cases (1.5%) of trichomoniasis vaginalis, 87 cases of mixed infections (16%), and 139 negative cases (26%). For each single infection, the clinical diagnosis had a sensitivity and specificity of 80.8% and 70.0% for bacterial vaginosis; 83.8% and 84.8% for candidiasis vaginitis; and 84.6% and 99.6% for trichomoniasis vaginalis when compared to the DNA probe standard. Conclusion Compared to a DNA probe standard, clinical diagnosis is 81-85% sensitive and 70- 99% specific for bacterial vaginosis, candida vaginitis, and trichomoniasis. Even under research conditions that provided clinicians with sufficient time and materials to conduct a thorough and standardized clinical evaluation, the diagnosis and therefore, subsequent treatment of these common vaginal problems remains difficult. PMID:19104364

  12. Vaginal flora in asymptomatic women.

    PubMed

    Tashjian, J H; Coulam, C B; Washington, J A

    1976-09-01

    Four groups of 25 asymptomatic women--pregnant, premenopausal and taking oral contraceptives, premenopausal and not taking oral contraceptives, and postmenopausal--were studied for the presence in vaginal specimens of aerobic bacteria, anaerobic bacteria, fungi, Mycoplasma, Chlamydia, herpes simplex virus, mycobacteria, and Trichomonas. No significant differences in microbial flora were found among the groups. PMID:957791

  13. 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

  14. 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

  15. 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

  16. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  17. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  18. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  19. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  20. Congenital nephrotic syndrome. Gallium-67 imaging

    SciTech Connect

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-11-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.

  1. 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

  2. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  3. 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

  4. Congenital anomalies and vascular birthmarks of the lower extremities.

    PubMed

    Laor, T; Burrows, P E

    1998-08-01

    MR imaging is an invaluable tool for the evaluation of congenital abnormalities and vascular birthmarks of the extremities in children. These abnormalities of the immature musculoskeletal system are often underestimated by radiography. MR imaging is useful for diagnosis, assisting in therapy, showing response to treatment, and determining prognosis. Localized and generalized abnormalities of the lower extremities and issues pertinent to their MR imaging are illustrated in this article. PMID:9654582

  5. The pathogenesis of congenital radial head dislocation/subluxation.

    PubMed

    Al-Qattan, Mohammad M; Abou Al-Shaar, Hussam; Alkattan, Wael M

    2016-07-15

    The pathogenesis of congenital radial head dislocation/subluxation is unknown and has not been previously investigated. In this review, we explore the pathogenesis and define five different primary insults: collagen abnormalities, abnormal endochondral ossification of the developing growth plate, abnormalities of forearm ossification outside the growth plate, disproportionate growth of the radius and ulna, and altered HOX D expression/activity. Finally, the clinical relevance of our review is discussed. PMID:27050104

  6. 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.

  7. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  8. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  9. 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

  10. 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

  11. 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. PMID:25529319

  12. Radiation tolerance of the vaginal mucosa

    SciTech Connect

    Hintz, b.L.; Kagan, A.R.; Chan, P.; Gilbert, H.A.; Nussbaum, H.; Rao, A.R.; Wollin, M.

    1980-06-01

    Sixteen patients with cancer of the vagina that were controlled locally for a minimum of eighteen months after teletherpay (T) or brachytherapy (B) or both (T and B), were analyzed for radiation tolerance of the vaginal mucosa. The site of vaginal necrosis did not always coincide with the site of the tumor. The posterior wall appeared more vulnerable than the anterior or lateral walls. For the distal vaginal mucosa, necrosis requiring surgical intervention occurred following combined T and B, if summated rad exceeded9800. The upper vagina tolerated higher dosages. No patient surgery for upper vaginal necrosis even though summated (T and B) dosage up to 14,000 rad was applied. Placing radioactive needles on the surface of the vaginal cylinder with or without interstitial perincal needles should be avoided. Further accumulation of data is needed to define these vaginal mucosa tolerance limits more closely.

  13. [Successful treatment of congenital cytomegalovirus infection with valganciclovir].

    PubMed

    Ishida, Yu; Miyajima, Tasuku; Shimura, Masaru; Morichi, Shinichiro; Morishima, Yasuyuki; Ioi, Hiroaki; Oana, Shingo; Yamanaka, Gaku; Kawashima, Hisashi; Hoshika, Akinori

    2012-01-01

    Congenital cytomegalovirus (CMV) infection occurs frequently in neonates. However, there are no screening tests or definitive treatments for this infection in Japan. We report a case of a 21-day-old Japanese boy with congenital CMV infection. He was referred to our hospital for treatment of congenital bilateral deafness. Brain magnetic resonance imaging (MRI) revealed cortical dysplasia of the temporal poles, enlarged ventricles, and areas of abnormal intensity in the white matter. He was given a diagnosis of congenital CMV infection based on the detection of CMV DNA in his urine and the umbilical cord. After the administration of valganciclovir, no CMV DNA was detected in his serum, and brain MRI and electroencephalogram findings, motor development, and deafness improved. Further investigation is needed to establish a screening test and treatment for congenital CMV infection in Japan. PMID:22352032

  14. 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

  15. 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 ...

  16. Congenital Scoliosis in Smith–Magenis Syndrome

    PubMed Central

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-01-01

    Abstract The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases. The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction. Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation. PMID:25929900

  17. Congenital basis of posterior fossa anomalies

    PubMed Central

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

    2015-01-01

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

  18. 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 ...

  19. 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.

  20. 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...

  1. 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...

  2. 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...

  3. 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...

  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. 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

  6. 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

  7. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the

  8. Evaluation of vaginal agenesis treated with the modified McIndoe technique: A retrospective study

    PubMed Central

    Karapınar, Oya Soylu; Özkan, Mustafa; Okyay, Ayşe Güler; Şahin, Hanifi; Dolapçıoğlu, Kenan Serdar

    2016-01-01

    Objective Retrospective analysis of cases that have undergone neovagina operation because of congenital vaginal agenesis was objected. Material and Methods Seven cases applying with the complaints of primary amenorrhea or inability to have sexual intercourse were in the study. The cases were diagnosed with congenital vaginal agenesis and operated at Mustafa Kemal University Training and Research Hospital between 2011 and 2014. Vaginoplasty by the modified McIndoe method was performed in all cases. The main complaint, chromosomal analysis, duration of operation, preoperative and postoperative vaginal length, complications, postoperative treatment, and satisfaction from the sexual intercourse were all evaluated. Results Average age of our patients was 28.14±8.61 (19–39) years. One patient was 46XX-45X0 mosaic Turner syndrome), 1 patient was 46XY (testicular feminization), and other 5 patients were 46XX. The average duration of operation was 2.7±0.56 (2–3.5 h). Postoperative infection was observed in 1 patient. In this infected patient, graft failure occurred and debridement was performed in reoperation. No early complications were seen in the others. Preoperative and postoperative average vaginal lengths were 1.85±0.62 (1–3 cm) and 8.71±1.11 (7–10 cm), respectively. Dyspareunia occurred in 2 cases that were not able to use dilatator regularly: 1 because of cancelation of marriage and the other because of postoperative infection; regular sexual life was achieved in remaining 5 (71%) cases. Conclusion Although there is no consensus about the ideal method of making a functioning vagina among different specialties. The modified McIndoe technique is the most applied method by gynecologists and simple, minimally invasive and with low morbidity. PMID:27403077

  9. CONGENITAL ABSENCE OF THE VAGINA—Surgical Correction

    PubMed Central

    Gaster, Joseph

    1955-01-01

    In the two cases of congenital absence of the vagina reported herein, the embryologic point of arrest of development of the mullerian ducts was identical. Both patients had a rudimentary uterus, and one had a fibroid tumor on the rudimentary uterus. As a part of operation to construct a vagina in such cases, exploratory pelvic laparotomy appears to be a desirable step in order to determine the status of the internal genital organs. The use of a split thickness skin graft sewn around a vaginal mold and inserted into the dissected vaginal space results in more rapid healing, less scar tissue and a vagina that is soft, pliable and normal in appearance, even to the extent of having rugal folds. ImagesFigure 2.Figure 4.Figure 5.Figure 6. PMID:13230915

  10. Vaginitis

    MedlinePlus

    ... navigation Health & Research A-Z Topics Symptoms, treatments, research, articles, clinical trials, resources Clinical Trials & Clinical Research Find ... pregnancy? How is it prevented? NICHD Research Information Research ... Contacts Clinical Trials Resources and Publications For ...

  11. 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, ...

  12. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  13. 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 ...

  14. 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.

  15. Effects of oral contraceptive pill use on vaginal flora and vaginal epithelium.

    PubMed

    Eschenbach, D A; Patton, D L; Meier, A; Thwin, S S; Aura, J; Stapleton, A; Hooton, T M

    2000-09-01

    The objective of this study was to examine the effect of oral contraceptive (OC) use on vaginal discharge, epithelium, and flora. Thirty women who planned to use OC for contraception were evaluated before and 2 months after the start of OC use. At both visits, genital symptoms and exposures were assessed by questionnaire; vaginal signs were assessed by speculum examination and colposcopy; vaginal microflora was evaluated by quantitative culture; and a vaginal biopsy was obtained for histopathologic evaluation. Variables were compared between the initial visit and after 2 months of OC use. It was found that OC use did not change the gross, colposcopic, or histologic appearance of the vaginal epithelium or characteristics of vaginal or cervical discharge. Vaginal flora essentially remained unchanged after 2 months of OC use, except that a small decrease occurred in the number of subjects with > or =10(5) colony forming units/mL of H(2)O(2) producing Lactobacillus from 16 at baseline to 9 (p = 0.04) and in the total number of subjects with Ureaplasma urealyticum from 17 at baseline to 10 of 29 (p = 0.04). The results indicate minimal effect of OC use on the vaginal epithelium and vaginal and cervical discharge, and a small effect on vaginal flora. PMID:11124356

  16. Effect of vaginal or systemic estrogen on dynamics of collagen assembly in the rat vaginal wall.

    PubMed

    Montoya, T Ignacio; Maldonado, P Antonio; Acevedo, Jesus F; Word, R Ann

    2015-02-01

    The objective of this study was to compare the effects of systemic and local estrogen treatment on collagen assembly and biomechanical properties of the vaginal wall. Ovariectomized nulliparous rats were treated with estradiol or conjugated equine estrogens (CEEs) either systemically, vaginal CEE, or vaginal placebo cream for 4 wk. Low-dose local CEE treatment resulted in increased vaginal epithelial thickness and significant vaginal growth without uterine hyperplasia. Furthermore, vaginal wall distensibility increased without compromise of maximal force at failure. Systemic estradiol resulted in modest increases in collagen type I with no change in collagen type III mRNA. Low-dose vaginal treatment, however, resulted in dramatic increases in both collagen subtypes whereas moderate and high dose local therapies were less effective. Consistent with the mRNA results, low-dose vaginal estrogen resulted in increased total and cross-linked collagen content. The inverse relationship between vaginal dose and collagen expression may be explained in part by progressive downregulation of estrogen receptor-alpha mRNA with increasing estrogen dose. We conclude that, in this menopausal rat model, local estrogen treatment increased total and cross-linked collagen content and markedly stimulated collagen mRNA expression in an inverse dose-effect relationship. High-dose vaginal estrogen resulted in downregulation of estrogen receptor-alpha and loss of estrogen-induced increases in vaginal collagen. These results may have important clinical implications regarding the use of local vaginal estrogen therapy and its role as an adjunctive treatment in women with loss of vaginal support. PMID:25537371

  17. 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

  18. Women's interest in vaginal microbicides.

    PubMed

    Darroch, J E; Frost, J J

    1999-01-01

    Research is underway to develop safe, effective microbicides that women can use vaginally to prevent sexually transmitted disease (STD) transmission. To estimate potential interest in microbicide use, interviews were conducted in 1998 with a nationally representative sample of 1000 sexually active US women 18-44 years of age. 20% of these women had either had an STD in the past or thought they might be infected. 93% of respondents indicated they would be interested in using a vaginal microbicide if they found themselves in a situation where they were at risk of STD transmission and 40% expressed current interest in such a product. Women who were not in a union were almost 3 times as likely as cohabiting women and 12 times as likely as married women to be both worried about contracting an STD and very interested in using a vaginal microbicide. Women who were 25-34 years of age, had a family income under US$20,000, did not have a college education, and were Black or Hispanic also were significantly more likely to express worry about their STD risk and interest in the product. The strongest independent predictor of whether a woman was worried about STDs and very interested in using a microbicide was whether she and her partner were already using condoms for STD prevention (odds ratio, 8.8). Two-thirds of respondents preferred a product that could be applied several hours before intercourse and was available without a prescription. 84% said they would use microbicide along with condoms rather than as a substitute for them. The findings of this survey suggest an estimated 12.6 million US women 15-44 years of age would be interested in current use of a microbicide. More than 7 million of these women would remain interested even if the product protected only against HIV, was just 70-80% effective, and cost $2 per application. Given this level of interest, the development, testing, and marketing of such products should be expedited. PMID:10029928

  19. 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

  20. 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

  1. 21 CFR 884.5900 - Therapeutic vaginal douche apparatus.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Therapeutic vaginal douche apparatus. 884.5900... Devices § 884.5900 Therapeutic vaginal douche apparatus. (a) Identification. A therapeutic vaginal douche... except it is not for contraceptive use. After filling the therapeutic vaginal douche apparatus with...

  2. 21 CFR 884.5900 - Therapeutic vaginal douche apparatus.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Therapeutic vaginal douche apparatus. 884.5900... Devices § 884.5900 Therapeutic vaginal douche apparatus. (a) Identification. A therapeutic vaginal douche... except it is not for contraceptive use. After filling the therapeutic vaginal douche apparatus with...

  3. 21 CFR 884.5900 - Therapeutic vaginal douche apparatus.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Therapeutic vaginal douche apparatus. 884.5900... Devices § 884.5900 Therapeutic vaginal douche apparatus. (a) Identification. A therapeutic vaginal douche... except it is not for contraceptive use. After filling the therapeutic vaginal douche apparatus with...

  4. Introducing educational theory: vaginal examination.

    PubMed

    Killingley, Jo

    2015-09-01

    A vaginal examination (VE) is one of many core skills used in midwifery practice. Despite the controversy of whether it is necessary in all situations, in this article I take the standpoint that it is useful in providing a full clinical picture, especially at times when closer monitoring is recommended. Additionally, if the core skill is misinterpreted, the findings of the VE can distort the true clinical picture. To support the student, subjective assessment and individual learning pathways must be addressed to avoid unnecessary intervention and psychological impairment to the woman. This article explores some of the difficulties encountered with teaching and learning VE in clinical practice and offers concepts from educational theory to assist in clarifying the difficulties and offering new ways of thinking for both students and midwives. PMID:26547997

  5. Management of Spontaneous Vaginal Delivery.

    PubMed

    Dresang, Lee T; Yonke, Nicole

    2015-08-01

    Most of the nearly 4 million births in the United States annually are normal spontaneous vaginal deliveries. In the first stage of labor, normal birth outcomes can be improved by encouraging the patient to walk and stay in upright positions, waiting until at least 6 cm dilation to diagnose active stage arrest, providing continuous labor support, using intermittent auscultation in low-risk deliveries, and following the Centers for Disease Control and Prevention guidelines for group B streptococcus prophylaxis. Most women with a low transverse uterine incision are candidates for a trial of labor after cesarean delivery and should be counseled accordingly. Pain management during labor includes complementary modalities and systemic opioids, epidural anesthesia, and pudendal block. Outcomes in the second stage of labor can be improved by using warm perineal compresses, allowing women more time to push before intervening, and offering labor support. Delayed pushing increases the length of the second stage of labor and does not affect the rate of spontaneous vaginal delivery. A tight nuchal cord can be clamped twice and cut before delivery of the shoulders, or the baby may be delivered using a somersault maneuver in which the cord is left nuchal and the distance from the cord to placenta minimized by pushing the head toward the maternal thigh. After delivery, skin-to-skin contact with the mother is recommended. Beyond 35 weeks' gestation, there is no benefit to bulb suctioning the nose and mouth. Postpartum maternal and neonatal outcomes can be improved through delayed cord clamping, active management to prevent postpartum hemorrhage, careful examination for external anal sphincter injuries, and use of absorbable synthetic suture for second-degree perineal laceration repair. Practices that will not improve outcomes and may result in negative outcomes include discontinuation of epidurals late in labor and routine episiotomy. PMID:26280140

  6. Surgical treatments for vaginal apical prolapse.

    PubMed

    Kong, Mi Kyung; Bai, Sang Wook

    2016-07-01

    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

  7. Vaginal rings for delivery of HIV microbicides

    PubMed Central

    Malcolm, R Karl; Fetherston, Susan M; McCoy, Clare F; Boyd, Peter; Major, Ian

    2012-01-01

    Following the successful development of long-acting steroid-releasing vaginal ring devices for the treatment of menopausal symptoms and contraception, there is now considerable interest in applying similar devices to the controlled release of microbicides against HIV. In this review article, the vaginal ring concept is first considered within the wider context of the early advances in controlled-release technology, before describing the various types of ring device available today. The remainder of the article highlights the key developments in HIV microbicide-releasing vaginal rings, with a particular focus on the dapivirine ring that is presently in late-stage clinical testing. PMID:23204872

  8. 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

  9. Vaginal Calculus in a Woman With Mixed Urinary Incontinence and Vaginal Mesh Exposure.

    PubMed

    Winkelman, William D; Rabban, Joseph T; Korn, Abner P

    2016-01-01

    Vaginal calculi are extremely rare and are most commonly encountered in the setting of an urethrovaginal or vesicovaginal fistula. We present a case of a 72-year-old woman with mixed urinary incontinence and vaginal mesh exposure incidentally found to have a large vaginal calculus. We removed the calculus surgically and analyzed the components. Results demonstrated the presence of ammonium-magnesium phosphate hexahydrate and carbonate apatite. PMID:26825410

  10. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  11. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  12. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

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

    PubMed Central

    Harsono, Mimily; Pourcyrous, Massroor

    2015-01-01

    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

  14. 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

  15. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  16. Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism.

    PubMed

    El Kholy, Mohamed; Fahmi, Marwa E; Nassar, Ayman E; Selim, Samia; Elsedfy, Heba H

    2007-01-01

    In the last decade a high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in a cohort of children with confirmed primary CH due to thyroid dysgenesis was investigated. A high prevalence of extrathyroidal major congenital anomalies (15.9%), more than 5-fold higher than that reported in the Egyptian population (2.7%), was found. The cardiac and musculoskeletal systems were the most commonly involved, comprising 9.09 and 47.72% of all anomalies, respectively. The high prevalence of musculoskeletal anomalies in this study was mostly due to minor anomalies as brachydactyly and digitalization of thumbs. The type of dysgenesis (i.e. aplastic, ectopic or hypoplastic) as well as the severity of hypothyroidism, as assessed by TSH and T(4) levels at diagnosis, had no relation with the occurrence of extrathyroidal abnormalities. PMID:17587855

  17. Congenital dilatation of the intrahepatic bile ducts with cholangiocarcinoma

    PubMed Central

    Gallagher, P. J.; Millis, R. R.; Mitchinson, M. J.

    1972-01-01

    Intrahepatic cholangiocarcinomas were found at necropsy in two previously reported cases of congenital dilatation of the intrahepatic bile ducts. The nature of the developmental abnormality is discussed and compared with other forms of biliary dilatation. Slow-flowing bile for many years probably leads to cholangiocarcinoma. Images PMID:4343747

  18. 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)

  19. Relationship between contraceptive method and vaginal flora.

    PubMed

    Peddie, B A; Bishop, V; Bailey, R R; McGill, H

    1984-08-01

    This study was undertaken to assess whether the vaginal flora was affected by the method of contraception, and in particular as to whether the incidence of vaginal candidiasis increased when oral contraceptives were used. One thousand and two consecutive vaginal or cervical swabs from women attending a family planning centre were cultured. Candida albicans was isolated from 13% of women using no contraception, 16% using oral contraceptives, and from 9%, 19% and 18% of those using diaphragms, intrauterine contraceptive devices (IUCD) and condoms respectively. These differences were not statistically significant. Women using an IUCD had significantly more Gram-positive cocci cultured than women in any other group, while those using diaphragms had significantly more Gram-negative bacilli. Our clinical impression that the use of oral contraceptives led to an increase in vaginal candidiasis, was not confirmed by this study. PMID:6596089

  20. 21 CFR 884.3900 - Vaginal stent.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... stent. (a) Identification. A vaginal stent is a device used to enlarge the vagina by stretching, or to support the vagina and to hold a skin graft after reconstructive surgery. (b) Classification. Class...

  1. Vaginal itching and discharge - adult and adolescent

    MedlinePlus

    ... clean their genital area while bathing or showering. Wipe properly after using the toilet -- always from front ... cervix Examination of vaginal discharge under the microscope (wet prep) Pap test Skin biopsies of the vulvar ...

  2. Vaginal douching practices and beliefs in Turkey.

    PubMed

    Kukulu, Kamile

    2006-01-01

    The aim of this study was to identify women's motivations for vaginal douching, vaginal douching practices, and women's reactions to situations that discourage vaginal douching. Research took place in the outskirts of Antalya, a city located on the Mediterranean coast of Turkey. A total of 776 women participated in the study. Age, religious affiliation, place of residence, and poverty were found to influence women's attitudes to douching. Motivating factors included mothers' attitudes as well as women's own individual motivations. Women who douched believed that it was a normal and routine behaviour. Women who were members of the Shafii sect were much less likely to practice vaginal douching. Healthcare providers should be aware of women's beliefs and concerns about feminine hygiene and tailor their strategies accordingly. PMID:16846944

  3. 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 ...

  4. 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. PMID:25737615

  5. [Effect of oral contraceptives on vaginal flora].

    PubMed

    Batashki, I; Markova, D; Milchev, N; Uchikova, E; Gŭrova, A

    2006-01-01

    The contraceptive and non contraceptive advantages of oral chormonal contraceptives as well as the good control on fertility, make it one of the most preffered method of contraception. The normal vaginal flora is a dynamic ecosystem and itsequilibrium and status of eubyosis amongst its inhabitants is an important mechanism against exogenous infections. The use of oral contraceptives is not associated with significant changes in the vaginal microbial flora; the normal concentration of the lactobacillli is preserved. PMID:16889189

  6. Evaluation of vaginal antifungal formulations in vivo.

    PubMed Central

    McRipley, R. J.; Erhard, P. J.; Schwind, R. A.; Whitney, R. R.

    1979-01-01

    Relatively simple and rapid procedures have been developed for evaluating the local efficacy of vaginal antifungal agents in vivo in a vaginal candidiasis model in ovariectomized rats. The results of this investigation indicate that the model and methods described are quite suitable for screening potential antifungal substances and for assessing the chemotherapeutic effectiveness of new antifungal agents and formulations before carrying out clinical studies. PMID:392480

  7. 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. PMID:27074843

  8. 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

  9. Focal and abnormally persistent paralysis associated with congenital paramyotonia

    PubMed Central

    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

  10. 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: ...

  11. 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 ...

  12. 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 ...

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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. PMID:26348375

  18. 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

  19. 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

  20. 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

  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. 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

  3. 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.

  4. The Development of Cervical and Vaginal Adenosis as a Result of Diethylstilbestrol Exposure In Utero

    PubMed Central

    Laronda, Monica M.; Unno, Kenji; Butler, Lindsey M.; Kurita, Takeshi

    2012-01-01

    Exposure to exogenous hormones during development can result in permanent health problems. In utero exposure to diethylstilbestrol (DES) is probably the most well documented case in human history. DES, an orally active synthetic estrogen, was believed to prevent adverse pregnancy outcome and thus was routinely given to selected pregnant women from the 1940s to the 1960s. It has been estimated that 5 million pregnant women worldwide were prescribed with DES during this period. In the early 1970s, vaginal clear cell adenocarcinomas (CCACs) were diagnosed in daughters whose mother took DES during pregnancy (known as DES daughters). Follow up studies demonstrated that exposure to DES in utero causes a spectrum of congenital anomalies in female reproductive tracts and CCACs. Among those, cervical and vaginal adenoses are most commonly found, which are believed to be the precursors of CCACs. Transformation related protein 63 (TRP63/p63) marks the cell fate decision of Müllerian duct epithelium (MDE) to become squamous epithelium in the cervix and vagina. DES disrupts the TRP63 expression in mice and induces adenosis lesions in the cervix and vagina. This review describes mouse models can be used to study the development of DES-induced anomalies, focusing on cervical and vaginal adenoses, and discusses its molecular pathogenesis. PMID:22682699

  5. Innovative non-surgical management of pelvic and anterior vaginal wall abscess following vaginal surgery.

    PubMed

    Singh, Nisha; Negi, Neha; Kumar, Namrata

    2016-01-01

    Surgical site infections remain a common cause of morbidity following gynaecological surgery. The widespread implementation of antibiotic prophylaxis prior to surgery, as well as cognizance of modifiable risk factors for postoperative infection, has led to a significant reduction in postoperative infection rates. However, in low resource settings where sepsis and infections are common, surgical site infections following vaginal hysterectomy are sometimes encountered. It is a challenge to treat these infections with minimal intervention avoiding repeat surgery. We report here a unique situation following vaginal hysterectomy and then laparotomy; where a pelvic abscess communicated with the vesicovaginal space and drained through an opening into the anterior vaginal wall. An innovative technique was used to drain this anterior vaginal wall abscess connecting to pelvic cavity using a 40 cm long disposable urinary catheter (made of polyvinyl chloride), which was inserted into the vaginal opening under ultrasound guidance. PMID:27571911

  6. Congenital adrenal hyperplasia

    MedlinePlus

    ... and potassium in the blood) Abnormal heart rhythm Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes: Abnormal ...

  7. Vaginal fold prolapse in a dog with pyometra and ovarian papillary cystadenocarcinoma.

    PubMed

    Zedda, Maria-Teresa; Bogliolo, Luisa; Ariu, Federica; Ledda, Mauro; Falchi, Laura; Pinna-Parpaglia, Maria-Luisa; Pau, Salvatore

    2016-04-01

    CASE DESCRIPTION A 7-year-old 42-kg (92.4-lb) sexually intact nulliparous female Italian Mastiff was examined because of a history of vaginal prolapse during diestrus. CLINICAL FINDINGS A physical examination revealed vaginal fold prolapse. Abdominal ultrasonography revealed an enlarged uterus with hypoechogenic content, corpora lutea in the ovaries, and a cyst in the right ovary. Hematologic abnormalities included leukocytosis, neutrophilia, mild anemia, and low Hct. Progesterone and estradiol concentrations were 9.36 ng/mL and 30.42 pg/mL, respectively, in serum and 72.72 ng/mL and 792 pg/mL, respectively, in the ovarian cystic fluid. TREATMENT AND OUTCOME Ovariohysterectomy was performed; the prolapsed tissue was repositioned by external manipulation and maintained in situ by temporary apposition of the vulvar lips with a retention suture. Anatomic and histologic examinations of the excised tissues revealed pyometra and papillary cystadenocarcinoma in the right ovary. The vaginal hyperplasia completely regressed at 35 days after surgery; 5 months after surgery, the dog's general condition was considered good. CLINICAL RELEVANCE Findings in this case were indicative of a hormonally active ovarian papillary cystadenocarcinoma in a female dog in diestrus. Hormone production by the cystadenocarcinoma was the predisposing factor that induced pyometra, mucosal hyperplasia, and vaginal fold prolapse in the dog. On the basis of these concurrent disorders, ovariohysterectomy was an appropriate treatment. (J Am Vet Med Assoc 2016;248:822-826). PMID:27003024

  8. 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

  9. Vaginal oestrogen for overactive bladder in post-menopausal women.

    PubMed

    Ostle, Zoe

    This article asks the question 'Should nurses recommend vaginal oestrogen for overactive bladder in post-menopausal women?' The article will review the evidence for use of vaginal oestrogen and consider the potential side-effects and risks. The main finding is that vaginal oestrogen is effective for treatment of overactive bladder in post-menopausal women with vaginal atrophy. However, vaginal atrophy is undertreated. This article identifies some of the barriers that may prevent diagnosis and treatment, and suggests changes in practice. Nurses should take the initiative and ask post-menopausal women about symptoms. Nurses should be trained to examine women, diagnose vaginal atrophy and discuss treatment. PMID:26067792

  10. Current concepts in congenital portosystemic shunts.

    PubMed

    Mankin, Kelley M Thieman

    2015-05-01

    Congenital portosystemic shunts (CPSS) are vascular abnormalities that allow portal blood to bypass the liver and join systemic circulation. Laboratory and imaging studies are performed preoperatively to diagnose CPSS and hopefully identify an anatomic location of the shunt. CPSS can be found in different locations in both small and large breed dogs. Most CPSS are best managed surgically. The goal of surgical management of CPSS is to slowly redirect blood from the shunting vessel through the portal vasculature while avoiding portal hypertension. Many surgical management methods are available, including open and less invasive procedures, such as laparoscopy and embolization. PMID:25737000

  11. Haemostatic defects in cyanotic congenital heart disease.

    PubMed Central

    Henriksson, P; Värendh, G; Lundström, N R

    1979-01-01

    An investigation of defects of the haemostatic mechanism in 41 children with cyanotic congenital heart disease concluded that such abnormalities were common and normally involved factors synthesised in the liver, that is the vitamin K dependent factors (rothrombin, factors VII and IX) and factor V. No evidence was found of activation of the coagulation or fibrinolytic systems. The defects can be explained by deficient synthesis resulting from systemic hypoxia as well as from sluggishness of the local microcirculation caused by high blood viscosity. Vitamin K parenterally had no demonstrable effect. Replacement of these factors, possibly combined with measures to improve the microcirculation, therefore, appears to be the appropriate treatment. PMID:426953

  12. Atrial Macroreentry in Congenital Heart Disease

    PubMed Central

    Twomey, Darragh J; Sanders, Prashanthan; Roberts-Thomson, Kurt C

    2015-01-01

    Macroreentrant atrial tachycardia is a common complication following surgery for congenital heart disease (CHD), and is often highly symptomatic with potentially significant hamodynamic consequences. Medical management is often unsuccessful, requiring the use of invasive procedures. Cavotricuspid isthmus dependent flutter is the most common circuit but atypical circuits also exist, involving sites of surgical intervention or areas of scar related to abnormal hemodynamics. Ablation can be technically challenging, due to complex anatomy, and difficulty with catheter stability. A thorough assessment of the pa-tients status and pre-catheter ablation planning is critical to successfully managing these patients. PMID:25308809

  13. Perceived functional impact of abnormal facial appearance.

    PubMed

    Rankin, Marlene; Borah, Gregory L

    2003-06-01

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

  14. Pleural abnormalities: thoracic ultrasound to the rescue!

    PubMed Central

    Pathmanathan, Sega; Lakshminarayana, Umesh B.; Avery, Gerard R.; Kastelik, Jack A.; Morjaria, Jaymin B.

    2013-01-01

    Diaphragmatic hernias that are diagnosed in adulthood may be traumatic or congenital in nature. Therefore, respiratory specialists need to be aware of the presentation of patients with these conditions. In this report, we describe a case series of patients with congenital and traumatic diaphragmatic hernias and highlight a varied range of their presentations. Abnormalities were noted in the thorax on the chest radiographs, but it was unclear as to the nature of the anomaly. The findings on thoracic ultrasound conducted by a pulmonologist helped to direct appropriate investigations avoiding unnecessary interventions. Instead of pleural effusions, consolidation or collapse, thoracic computed tomography demonstrated diaphragmatic hernias which were managed either conservatively or by surgery. There is increasing evidence that pulmonary specialists should be trained in thoracic ultrasonography to identify pleural pathology as well as safely conducting pleural-based interventions. PMID:23819018

  15. Pleural abnormalities: thoracic ultrasound to the rescue!

    PubMed

    Aslam, Imran; Pathmanathan, Sega; Lakshminarayana, Umesh B; Avery, Gerard R; Kastelik, Jack A; Morjaria, Jaymin B

    2013-07-01

    Diaphragmatic hernias that are diagnosed in adulthood may be traumatic or congenital in nature. Therefore, respiratory specialists need to be aware of the presentation of patients with these conditions. In this report, we describe a case series of patients with congenital and traumatic diaphragmatic hernias and highlight a varied range of their presentations. Abnormalities were noted in the thorax on the chest radiographs, but it was unclear as to the nature of the anomaly. The findings on thoracic ultrasound conducted by a pulmonologist helped to direct appropriate investigations avoiding unnecessary interventions. Instead of pleural effusions, consolidation or collapse, thoracic computed tomography demonstrated diaphragmatic hernias which were managed either conservatively or by surgery. There is increasing evidence that pulmonary specialists should be trained in thoracic ultrasonography to identify pleural pathology as well as safely conducting pleural-based interventions. PMID:23819018

  16. 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. PMID:27043388

  17. 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

  18. Tooth - abnormal colors

    MedlinePlus

    ... things can cause tooth discoloration. The change in color may affect the entire tooth, or appear as spots or ... the tooth enamel. Your genes affect your tooth color. Other things ... include: Congenital diseases Environmental factors Infections ...

  19. 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: ...

  20. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  1. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  2. 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

  3. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  4. Congenital Anomalies of the Hand--Principles of Management.

    PubMed

    Little, Kevin J; Cornwall, Roger

    2016-01-01

    Physicians who specialize in pediatric orthopedics and hand surgery frequently encounter congenital hand abnormalities, despite their relative rarity. The treating physician should be aware of the associated syndromes and malformations that may, in some cases, be fatal if not recognized and treated appropriately. Although these congenital disorders have a wide variability, their treatment principles are similar in that the physician should promote functional use and cosmesis for the hand. This article discusses syndactyly, preaxial polydactyly and post-axial polydactyly, and the hypoplastic thumb. PMID:26614930

  5. Congenital bilobed gallbladder with phrygian cap presenting as calculus cholecystitis.

    PubMed

    Kannan, N S; Kannan, Usha; Babu, C P Ganesh

    2014-08-01

    The incidence of congenital bilobed gall bladder is 1 in 3000 to 4000. A Phrygian cap is a congenital abnormality of the gallbladder with an incidence of 4%. Preferred mode of diagnosis for Phrygian cap is cholescintigraphy and multi phase MRI, as Ultrasonography and CT are not always conclusive. The estimated prevalence of gallstone disease in India has been reported as 2% to 29%. A case of bilobed gall bladder with Phrygian cap in both the lobes and pigment gallstone in one of the lobes presenting as calculus cholecystitis is reported for its rarity and difficulty in arriving at correct preoperaive diagnosis. PMID:25302235

  6. Congenital Bilobed Gallbladder with Phrygian Cap Presenting as Calculus Cholecystitis

    PubMed Central

    Kannan, Usha; Babu, C.P. Ganesh

    2014-01-01

    The incidence of congenital bilobed gall bladder is 1 in 3000 to 4000. A Phrygian cap is a congenital abnormality of the gallbladder with an incidence of 4%. Preferred mode of diagnosis for Phrygian cap is cholescintigraphy and multi phase MRI, as Ultrasonography and CT are not always conclusive. The estimated prevalence of gallstone disease in India has been reported as 2% to 29%. A case of bilobed gall bladder with Phrygian cap in both the lobes and pigment gallstone in one of the lobes presenting as calculus cholecystitis is reported for its rarity and difficulty in arriving at correct preoperaive diagnosis PMID:25302235

  7. Congenital absence of the medial meniscus associated with lipoma arborescens.

    PubMed

    Utkan, Ali; Ozkan, Güray; Köse, Cem Cüneyt; Ciliz, Deniz Sözmen; Albayrak, Ahmet Levent

    2010-06-01

    Congenital abnormalities of the medial meniscus are extremely rare and have been reported commonly with other deformities. We report an isolated aplasia of the medial meniscus. A 37-year-old man presented with a slow-growing painless swelling, accompanied by intermittent effusion of his left knee. Magnetic resonance imaging demonstrated frond-like proliferations of fatty synovium. He was initially diagnosed with synovial chondromatosis, but later found to have lipoma arborescens. While an arthroscopic synovectomy was being performed, congenital absence of the medial meniscus was discovered as an incidental finding. PMID:19766501

  8. Congenital cytomegalovirus infection: a cause of renal dysplasia?

    PubMed

    Chan, Maren; Hecht, Jonathan L; Boyd, Theonia; Rosen, Seymour

    2007-01-01

    Cytomegalovirus (CMV) infection is one of the most frequently encountered viral infections of the fetus and induces a wide range of histologic and clinical manifestations. Congenital abnormalities are typically restricted to the central nervous system despite evidence of CMV inclusions occurring in most epithelial cells. Although tissue injury and even glomerulonephritis have been observed in congenital CMV infections, renal multicystic dysplasia has not been reported. Herein, we describe a case of unilateral renal dysplasia in a 19-week fetus with concurrent CMV infection. We believe the present case to be the first description of a virus apparently inducing renal multicystic dysplasia. PMID:17638423

  9. 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

  10. 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

  11. Fasciocutaneous flap for vaginal and perineal reconstruction

    SciTech Connect

    Wang, T.N.; Whetzel, T.; Mathes, S.J.; Vasconez, L.O.

    1987-07-01

    A skin and fascia flap from the medial thigh is proposed for vaginal and perineal reconstruction. Dissection, vascular injection, and radiographs of 20 fresh cadaver limbs uniformly demonstrated the presence of a communicating suprafascial vascular plexus in the medial thigh. Three to four nonaxial vessels were consistently found to enter the proximal plexus from within 5 cm of the perineum. Preservation of these vessels permitted reliable elevation of a 9 X 20 cm fasciocutaneous flap without using the gracilis muscle as a vascular carrier. Fifteen flaps in 13 patients were used for vaginal replacement and coverage of vulvectomy, groin, and ischial defects. Depending on the magnitude of the defect, simultaneous and independent elevation of the gracilis muscle provided additional vascularized coverage as needed. Our experience indicates that the medial thigh fasciocutaneous flap is a durable, less bulky, and potentially sensate alternative to the gracilis musculocutaneous flap for vaginal and perineal reconstruction.

  12. Intermittent local prophylaxis against recurrent vaginal candidosis.

    PubMed Central

    Bushell, T E; Evans, E G; Meaden, J D; Milne, J D; Warnock, D W

    1988-01-01

    Women with recurrent vaginal candidosis were treated until the infection cleared and were then given one clotrimazole 500 mg vaginal tablet a month or an identical placebo as prophylaxis. Of 21 women who received placebo, 16 developed symptoms or signs within three months, compared with nine of 17 women given active treatment. Women who relapsed were treated and then given active prophylaxis once a month. Of 30 women given such treatment, 13 relapsed within three months. Women who relapsed were treated and then given two clotrimazole 500 mg vaginal tablets a month. Of 17 women given prophylaxis twice a month, four developed symptoms or signs within three months, but 10 remained clear for 12 months. No appreciable difference was seen in the incidence of mycological recurrence between the different regimens; within three months over half the women in all treatment groups had become recolonised. PMID:3060424

  13. Anterior vaginal wall repair (surgical treatment of urinary incontinence) - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100110.htm Anterior vaginal wall repair (surgical treatment of urinary incontinence) - series ... 4 out of 4 Normal anatomy Overview The vaginal opening lies just below the urethral opening, and ...

  14. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  15. 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

  16. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  17. 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. PMID:24205484

  18. 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

  19. Total vaginectomy for refractory vaginal intraepithelial neoplasia III of the vaginal vault

    PubMed Central

    Youn, Ju Hyun; Lee, Min Ah; Ju, Woong; Kim, Seoung Cheol

    2016-01-01

    Vaginal intraepithelial neoplasia III, is a relatively rare disease. Consequently standard treatments for this disease were not established until recently. Although several convenient methods, such as laser ablation, 5-fluorouracil topical injection, and radiation therapy, have been applied for treating these lesions, surgical treatments, including vaginectomy, have not yet been attempted, as they would likely be accompanied by technical difficulties and various complications. Herein, we report a case of refractory vaginal intraepithelial neoplasia III in the vaginal vault that was successfully treated with a total vaginectomy. PMID:26866041

  20. Bone conduction hearing in congenital aural atresia.

    PubMed

    Zhang, Lichun; Gao, Na; Yin, Yanbo; Yang, Lin; Xie, Youzhou; Chen, Ying; Dai, Peidong; Zhang, Tianyu

    2016-07-01

    Previous researches focusing on BC hearing mechanisms proved that the two routes, (1) EAC sound radiation and (2) inertial of ossicular chain, partially contribute to normal BC hearing. Therefore, the BC hearing for those patients with congenital aural atresia should partially decrease theoretically due to their abnormal anatomy. However, there are not many studies which mention these patients' BC hearing up till now. The objective of this study is to investigate congenital aural atresia patient's BC hearing by analysis of pre-surgical audiogram and to study their potential BC hearing mechanisms using animal modeling and their ABR measurements. The study methoed involves analyzing 75 patients' pre-operative audiogram. Then we produced an animal model by surgery to measure their BC hearing threshold changes. Clinical data showed that those patients had some BC hearing loss; and there were 25 cases (25/75, 33.3 %) which present with typical Carhart's Notch. The animal experiments proved that inertia of ossicular chain contribute to partial BC hearing, which demonstrated that the inertia produced more affects on high frequencies by comparing with low frequencies. The patients with congenital aural atresia present BC hearing loss, which could be mainly ascribed to the absence of inertia of ossicular chain. PMID:26205153

  1. Microbes on the human vaginal epithelium

    PubMed Central

    Hyman, Richard W.; Fukushima, Marilyn; Diamond, Lisa; Kumm, Jochen; Giudice, Linda C.; Davis, Ronald W.

    2005-01-01

    Using solely a gene-based procedure, PCR amplification of the 16S ribosomal RNA gene coupled with very deep sequencing of the amplified products, the microbes on 20 human vaginal epithelia of healthy women have been identified and quantitated. The Lactobacillus content on these 20 healthy vaginal epithelia was highly variable, ranging from 0% to 100%. For four subjects, Lactobacillus was (virtually) the only bacterium detected. However, that Lactobacillus was far from clonal and was a mixture of species and strains. Eight subjects presented complex mixtures of Lactobacillus and other microbes. The remaining eight subjects had no Lactobacillus. Instead, Bifidobacterium, Gardnerella, Prevotella, Pseudomonas, or Streptococcus predominated. PMID:15911771

  2. Vaginal Estrogen for Genitourinary Syndrome of Menopause

    PubMed Central

    Rahn, David D.; Carberry, Cassandra; Sanses, Tatiana V.; Mamik, Mamta M.; Ward, Renée M.; Meriwether, Kate V.; Olivera, Cedric K.; Abed, Husam; Balk, Ethan M.; Murphy, Miles

    2016-01-01

    OBJECTIVE To comprehensively review and critically assess the literature on vaginal estrogen and its alternatives for women with genitourinary syndrome of menopause and to provide clinical practice guidelines. DATA SOURCES MEDLINE and Cochrane databases were searched from inception to April 2013. We included randomized controlled trials and prospective comparative studies. Interventions and comparators included all commercially available vaginal estrogen products. Placebo, no treatment, systemic estrogen (all routes), and nonhormonal moisturizers and lubricants were included as comparators. METHODS OF STUDY SELECTION We double-screened 1,805 abstracts, identifying 44 eligible studies. Discrepancies were adjudicated by a third reviewer. Studies were individually and collectively assessed for methodologic quality and strength of evidence. TABULATION, INTEGRATION, AND RESULTS Studies were extracted for participant, intervention, comparator, and outcomes data, including patient-reported atrophy symptoms (eg, vaginal dryness, dyspareunia, dysuria, urgency, frequency, recurrent urinary tract infection (UTI), and urinary incontinence), objective signs of atrophy, urodynamic measures, endometrial effects, serum estradiol changes, and adverse events. Compared with placebo, vaginal estrogens improved dryness, dyspareunia, urinary urgency, frequency, and stress urinary incontinence (SUI) and urgency urinary incontinence (UUI). Urinary tract infection rates decreased. The various estrogen preparations had similar efficacy and safety; serum estradiol levels remained within postmenopausal norms for all except high-dose conjugated equine estrogen cream. Endometrial hyperplasia and adenocarcinoma were extremely rare among those receiving vaginal estrogen. Comparing vaginal estrogen with nonhormonal moisturizers, patients with two or more symptoms of vulvovaginal atrophy were substantially more improved using vaginal estrogens, but those with one or minor complaints had similar

  3. MRSA as a rare cause of vaginitis.

    PubMed

    de Bree, L C J; van Rijen, M M L; Coertjens, H P M; van Wijngaarden, P

    2015-12-01

    We describe a 26-year-old otherwise healthy woman with MRSA vaginitis. Traditional MRSA risk factors were absent and additional screening sites were negative. Patient was treated successfully with oral antibiotics combined with topical lactic acid emulsion. Because her partner appeared to have solitary MRSA carriage on the glans, a suggestion of sexual transmission was made. He was treated successfully with topical mupirocin ointment. Although solitary vaginal MRSA carriage and infection seems to be rare and its clinical impact is yet undefined, clinicians should consider adding the genitourinary tract to traditional screening sites in case of recurrent MRSA infections. PMID:25764306

  4. 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...

  5. 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...

  6. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  7. 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

  8. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  9. 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 ...

  10. 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

  11. Abnormal Head Position

    MedlinePlus

    ... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...

  12. Urine - abnormal color

    MedlinePlus

    ... straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored. Causes Abnormal urine color may ... red blood cells, or mucus in the urine. Dark brown but clear urine is a sign of ...

  13. Protocols for vaginal inoculation and sample collection in the experimental mouse model of Candida vaginitis.

    PubMed

    Yano, Junko; Fidel, Paul L

    2011-01-01

    Vulvovaginal candidiasis (VVC), caused by Candida species, is a fungal infection of the lower female genital tract that affects approximately 75% of otherwise healthy women during their reproductive years. Predisposing factors include antibiotic usage, uncontrolled diabetes and disturbance in reproductive hormone levels due to pregnancy, oral contraceptives or hormone replacement therapies. Recurrent VVC (RVVC), defined as three or more episodes per year, affects a separate 5 to 8% of women with no predisposing factors. An experimental mouse model of VVC has been established and used to study the pathogenesis and mucosal host response to Candida. This model has also been employed to test potential antifungal therapies in vivo. The model requires that the animals be maintained in a state of pseudoestrus for optimal Candida colonization/infection. Under such conditions, inoculated animals will have detectable vaginal fungal burden for weeks to months. Past studies show an extremely high parallel between the animal model and human infection relative to immunological and physiological properties. Differences, however, include a lack of Candida as normal vaginal flora and a neutral vaginal pH in the mice. Here, we demonstrate a series of key methods in the mouse vaginitis model that include vaginal inoculation, rapid collection of vaginal specimens, assessment of vaginal fungal burden, and tissue preparations for cellular extraction/isolation. This is followed by representative results for constituents of vaginal lavage fluid, fungal burden, and draining lymph node leukocyte yields. With the use of anesthetics, lavage samples can be collected at multiple time points on the same mice for longitudinal evaluation of infection/colonization. Furthermore, this model requires no immunosuppressive agents to initiate infection, allowing immunological studies under defined host conditions. Finally, the model and each technique introduced here could potentially give rise to use of

  14. 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

  15. 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:…

  16. Postirradiation angiosarcoma of the vaginal vault

    SciTech Connect

    Chan, W.W.; SenGupta, S.K. )

    1991-05-01

    We describe a unique case of an angiosarcoma arising in the vaginal vault 21 years after hysterectomy and radiotherapy for stage I carcinoma of the cervix. We also review the literature regarding angiosarcomas arising after previous radiation therapy for gynecologic malignancies.

  17. Studies of Immune Responses in Candida vaginitis.

    PubMed

    De Bernardis, Flavia; Arancia, Silvia; Sandini, Silvia; Graziani, Sofia; Norelli, Sandro

    2015-01-01

    The widespread occurrence of vaginal candidiasis and the development of resistance against anti-fungal agents has stimulated interest in understanding the pathogenesis of this disease. The aim of our work was to characterize, in an animal model of vaginal candidiasis, the mechanisms that play a role in the induction of mucosal immunity against C. albicans and the interaction between innate and adaptive immunity. Our studies evidenced the elicitation of cell-mediated immunity (CMIs) and antibody (Abs)-mediated immunity with a Th1 protective immunity. An immune response of this magnitude in the vagina was very encouraging to identify the proper targets for new strategies for vaccination or immunotherapy of vaginal candidiasis. Overall, our data provide clear evidence that it is possible to prevent C. albicans vaginal infection by active intravaginal immunization with aspartyl proteinase expressed as recombinant protein. This opens the way to a modality for anti-Candida protection at the mucosa. The recombinant protein Sap2 was assembled with virosomes, and a vaccine PEVION7 (PEV7) was obtained. The results have given evidence that the vaccine, constituted of virosomes and Secretory aspartyl proteinase 2 (Sap2) (PEV7), has an encouraging therapeutic potential for the treatment of recurrent vulvovaginal candidiasis. PMID:26473934

  18. Studies of Immune Responses in Candida vaginitis

    PubMed Central

    De Bernardis, Flavia; Arancia, Silvia; Sandini, Silvia; Graziani, Sofia; Norelli, Sandro

    2015-01-01

    The widespread occurrence of vaginal candidiasis and the development of resistance against anti-fungal agents has stimulated interest in understanding the pathogenesis of this disease. The aim of our work was to characterize, in an animal model of vaginal candidiasis, the mechanisms that play a role in the induction of mucosal immunity against C. albicans and the interaction between innate and adaptive immunity. Our studies evidenced the elicitation of cell-mediated immunity (CMIs) and antibody (Abs)-mediated immunity with a Th1 protective immunity. An immune response of this magnitude in the vagina was very encouraging to identify the proper targets for new strategies for vaccination or immunotherapy of vaginal candidiasis. Overall, our data provide clear evidence that it is possible to prevent C. albicans vaginal infection by active intravaginal immunization with aspartyl proteinase expressed as recombinant protein. This opens the way to a modality for anti-Candida protection at the mucosa. The recombinant protein Sap2 was assembled with virosomes, and a vaccine PEVION7 (PEV7) was obtained. The results have given evidence that the vaccine, constituted of virosomes and Secretory aspartyl proteinase 2 (Sap2) (PEV7), has an encouraging therapeutic potential for the treatment of recurrent vulvovaginal candidiasis. PMID:26473934

  19. After vaginal delivery - in the hospital

    MedlinePlus

    ... to remove it. Care of the Vagina and Perineum The area between your vagina and rectum is called the perineum. Even if you did not have a tear ... birth Images Vaginal birth - series References Katz VL. Postpartum Care. In: Gabbe SG, Niebyl JR, Simpson JL, ...

  20. 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

  1. 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. PMID:22045346

  2. Congenital absence of the gallbladder and the cystic duct.

    PubMed

    Bekele, Zenebe

    2002-04-01

    A 47 years old female with congenital absence of the gallbladder and the cystic duct was presented. The diagnosis was confirmed by exploratory laparatomy, common duct tube cholangiography, and ultrasonography. Most of the operated cases of congenital absence of the gallbladder are symptomatic, and they get relief after common duct exploration. Although the biliary tree is normal on inspection at exploration, it is believed that the symptomatology may have root in congenital abnormality of function. Treatment of the agenesis of the gallbladder as described in earlier days has been discussed. In the present situation, specially in a country like Ethiopia where long time care of internal drains is a worrisome problem, and a major point for concern, the author believes choledocho-enteric anastomosis to be a good solution. PMID:12240579

  3. Severe ocular sequelae of congenital toxoplasmosis: huge macular scar

    PubMed Central

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

    2015-01-01

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

  4. State-of-the-Art CT Imaging Techniques for Congenital Heart Disease

    PubMed Central

    2010-01-01

    CT is increasingly being used for evaluating the cardiovascular structures and airways in the patients with congenital heart disease. Multi-slice CT has traditionally been used for the evaluation of the extracardiac vascular and airway abnormalities because of its inherent high spatial resolution and excellent air-tissue contrast. Recent developments in CT technology primarily by reducing the cardiac motion and the radiation dose usage in congenital heart disease evaluation have helped expand the indications for CT usage. Tracheobronchomalacia associated with congenital heart disease can be evaluated with cine CT. Intravenous contrast injection should be tailored to unequivocally demonstrate cardiovascular abnormalities. Knowledge of the state-of-the-art CT imaging techniques that are used for evaluating congenital heart disease is helpful not only for planning and performing CT examinations, but also for interpreting and presenting the CT image findings that consequently guide the proper medical and surgical management. PMID:20046490

  5. Vaginal Lactobacillus: biofilm formation in vivo – clinical implications

    PubMed Central

    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

  6. 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

  7. Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha.

    PubMed

    Salihoglu, Ayse; Elverdi, Tugrul; Eskazan, Ahmet Emre; Eyice, Deniz; Bavunoglu, Isil; Ar, Muhlis Cem; Ongoren, Seniz; Guzel, Elif; Baslar, Zafer; Tunckale, Aydin; Tuzuner, Nukhet; Soysal, Teoman

    2016-06-01

    Congenital dyserythropoietic anemias are a rare group of inherited anemias characterized by ineffective erythropoiesis and distinct morphological abnormalities in the erythroblasts. Interferon alpha has been shown to be effective in type 1 congenital dyserythropoietic anemia but the optimal duration of therapy is undefined. We present here a 32-years-old female patient diagnosed with type 1 congenital dyserythropoietic anemia precipitated by pregnancy and treated successfully with a short course of interferon alpha resulting in a durable response. A literature search including PubMed database on previously published articles regarding congenital dyserythropoietic anemia type 1 patients treated with interferon is conducted. PMID:27408411

  8. 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

  9. Atrophic vaginitis in breast cancer survivors: a difficult survivorship issue.

    PubMed

    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

  10. 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

  11. [Neonatal monitoring of congenital hypothyroidism in a mild iodine-deficiency region].

    PubMed

    Radzivil, T T; Krat, I V

    2006-07-01

    The paper analyzes the 2001-2004 data on congenital thyroid deficiency in a mild iodine-deficiency region. There is an increase in the number of neonatal infants with abnormally high thyroid-stimulating hormone (TSH) values. There is evidence that there is a need for neonatal TSH screening. The latter makes it possible to diagnose congenital thyroid deficiency from the first days of a baby's life and to prevent serious consequences in future. PMID:16925057

  12. Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.

    PubMed

    Kloesel, Benjamin; DiNardo, James A; Body, Simon C

    2016-09-01

    Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this article, we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions. PMID:27541719

  13. Normal vaginal microbiology of women of childbearing age in relation to the use of oral contraceptives and vaginal tampons.

    PubMed

    Morris, C A; Morris, D F

    1967-07-01

    The vaginal microbiology of women attending a family planning clinic was found to be unrelated to the use of oral contraceptives and vaginal tampons. Beta haemolytic streptococci isolated from this ;normal' population were compared with those from 1,104 women attending general practitioners complaining of vaginal discharge. There is a caution regarding the indications for antibiotic therapy. Observations were made on the effects of contamination of vaginal swabs with yeasts and beta-haemolytic streptococci from the vulva. The persistent character of the vaginal flora over a six-month period is described. PMID:5602581

  14. Merosin-negative congenital muscular dystrophy: Report of five cases

    PubMed Central

    Incecik, Faruk; Herguner, Ozlem M.; Ceylaner, Serdar; Altunbasak, Sakir

    2015-01-01

    Context: Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the laminin α-2 gene encoding laminin-a2. Aims: The purpose of this study is to determine clinical and genetic results in five Turkish patients with MDC1A. Setting and Designs: Five children with MDC1A were retrospectively analyzed. Results: Three (60%) were boys, and 2 (40%) were girls. Parental consanguinity was found in all the families. In all the patients, hypotonia, weakness, delayed motor milestones, markedly elevated creatine phosphokinase (CPK) concentration, and brain white matter abnormalities on magnetic resonance imaging were detected. Mutation analysis was performed in all the patients, and 3 different mutations were detected. However, a mutation in patient 1 and 2 has not been previously described in the literature. Conclusions: When a patient presents with severe congenital hypotonia, muscle weakness, high serum CPK levels, and white matter abnormalities, should be suspected as MDC1A. PMID:26962340

  15. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  16. 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

  17. 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

  18. Real-Time Color-Flow CMR in Adults with Congenital Heart Disease

    PubMed Central

    de la Pena, Erasmo; Nguyen, Patricia K.; Nayak, Krishna S.; Yang, Phillip C.; Rosenthal, David N.; Hu, Bob S.; Pauly, John M.; McConnell, Michael V.

    2015-01-01

    CMR is valuable in the evaluation of congenital heart disease (CHD). Traditional flow imaging sequences involve cardiac and respiratory gating, increasing scan time and susceptibility to arrhythmias. We studied a real-time color-flow CMR system for the detection of flow abnormalities in 13 adults with CHD. All 16 congenital flow abnormalities previously detected by echocardiography were visualized using color-flow CMR, including atrial septal defects (n = 4), ventricular septal defects (n = 9), aortic coarctation (n = 1), Blalock-Taussig shunt (n = 1) and Fontan shunt (n = 1). Real-time color-flow CMR can identify intra- and extra-cardiac flow abnormalities in adults with congenital heart disease. PMID:17060103

  19. 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

  20. 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

  1. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  2. Abnormal mandibular growth and the condylar cartilage.

    PubMed

    Pirttiniemi, Pertti; Peltomäki, Timo; Müller, Lukas; Luder, Hans U

    2009-02-01

    Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular level. The aim of this review is to summarize recent progress in the understanding of pathological alterations occurring during childhood and adolescence that affect the temporomandibular joint (TMJ) and, hence, result in disorders of mandibular growth. Pathological conditions taken into account are subdivided into (1) congenital malformations with associated growth disorders, (2) primary growth disorders, and (3) acquired diseases or trauma with associated growth disorders. Among the congenital malformations, hemifacial microsomia (HFM) appears to be the principal syndrome entailing severe growth disturbances, whereas growth abnormalities occurring in conjunction with other craniofacial dysplasias seem far less prominent than could be anticipated based on their often disfiguring nature. Hemimandibular hyperplasia and elongation undoubtedly constitute the most obscure conditions that are associated with prominent, often unilateral, abnormalities of condylar, and mandibular growth. Finally, disturbances of mandibular growth as a result of juvenile idiopathic arthritis (JIA) and condylar fractures seem to be direct consequences of inflammatory and/or mechanical damage to the condylar cartilage. PMID:19164410

  3. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    PubMed

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  4. 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

  5. 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.

  6. 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

  7. 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

  8. Heart Failure in Adult Congenital Heart Disease: Nonpharmacologic Treatment Strategies.

    PubMed

    LeMond, Lisa; Mai, Tuan; Broberg, Craig S; Muralidaran, Ashok; Burchill, Luke J

    2015-11-01

    In early stages, heart failure (HF) in adult congenital heart disease (ACHD) remains an elusive diagnosis. Many ACHD patients seem well-compensated owing to chronic physical and psychological adaptations. HF biomarkers and cardiopulmonary exercise tests are often markedly abnormal, although patients report stable health and good quality of life. Treatment differs from acquired HF. Evidence for effective drug therapy in ACHD-related HF is lacking. Residual ventricular, valvular, and vascular abnormalities contribute to HF pathophysiology, leading to an emphasis on nonpharmacologic treatment strategies. This article reviews emerging perspectives on nonpharmacologic treatment strategies, including catheter-based interventions, surgical correction, and palliative care. PMID:26471822

  9. The detection of congenital glaucoma by photoscreen interpretation.

    PubMed

    Arnold, R W; Sitenga, G

    2000-01-01

    Photoscreening is designed to detect abnormalities in children's eye, particularly abnormal refractive errors, which can lead to amblyopia. An Alaska Bind Child Discovery MTI Polaroid photoscreen in one girl resulted in diagnosis and treatment of congenital glaucoma. Patients with known pediatric eye disease underwent photoscreening. Subtle non-refractive changes in photoscreen images may reveal eye disease even more serious than amblyopia. We suggest that human or computer interpretation of photoscreening images, particularly when retained, be done conscientiously with respect to the refractive state and alignment of the eyes, but also regarding other potentially serious ocular pathology. PMID:11042939

  10. Journey into muscular dystrophies caused by abnormal glycosylation.

    PubMed

    Muntoni, Francesco

    2004-09-01

    An increasing number of genes encoding for putative or demonstrated glycosyltransferases are being associated with muscular dystrophies of variable severity, ranging from severe congenital onset and associated structural eye and brain changes, to relatively mild forms with onset into adulthood. Five of these genes (POMT1; POMGnT1; FXRP; Fukutin; LARGE) encode for proteins involved in the glycosylation of alpha-dystroglycan and, indeed, abnormal glycosylation of this molecule is a common finding in all the respective conditions (Walker Warburg syndrome; Muscle-Eye-Brain disease; congenital muscular dystrophy type 1C and Limb girdle muscular dystrophy type 21; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D). A 6th gene, GNE, responsible for the hereditary form of inclusion body myositis, encodes for a glycosyltransferase the substrate(s) of which is, however, still unclear. This article provides an overview of the clinical, biochemical and genetic features of this group of disorders. PMID:15605948

  11. The vaginal microflora in relation to gingivitis

    PubMed Central

    2009-01-01

    Background Gingivitis has been linked to adverse pregnancy outcome (APO). Bacterial vaginosis (BV) has been associated with APO. We assessed if bacterial counts in BV is associated with gingivitis suggesting a systemic infectious susceptibilty. Methods Vaginal samples were collected from 180 women (mean age 29.4 years, SD ± 6.8, range: 18 to 46), and at least six months after delivery, and assessed by semi-quantitative DNA-DNA checkerboard hybridization assay (74 bacterial species). BV was defined by Gram stain (Nugent criteria). Gingivitis was defined as bleeding on probing at ≥ 20% of tooth sites. Results A Nugent score of 0–3 (normal vaginal microflora) was found in 83 women (46.1%), and a score of > 7 (BV) in 49 women (27.2%). Gingivitis was diagnosed in 114 women (63.3%). Women with a diagnosis of BV were more likely to have gingivitis (p = 0.01). Independent of gingival conditions, vaginal bacterial counts were higher (p < 0.001) for 38/74 species in BV+ in comparison to BV- women. Counts of four lactobacilli species were higher in BV- women (p < 0.001). Independent of BV diagnosis, women with gingivitis had higher counts of Prevotella bivia (p < 0.001), and Prevotella disiens (p < 0.001). P. bivia, P. disiens, M. curtisii and M. mulieris (all at the p < 0.01 level) were found at higher levels in the BV+/G+ group than in the BV+/G- group. The sum of bacterial load (74 species) was higher in the BV+/G+ group than in the BV+/G- group (p < 0.05). The highest odds ratio for the presence of bacteria in vaginal samples (> 1.0 × 104 cells) and a diagnosis of gingivitis was 3.9 for P. bivia (95% CI 1.5–5.7, p < 0.001) and 3.6 for P. disiens (95%CI: 1.8–7.5, p < 0.001), and a diagnosis of BV for P. bivia (odds ratio: 5.3, 95%CI: 2.6 to 10.4, p < 0.001) and P. disiens (odds ratio: 4.4, 95% CI: 2.2 to 8.8, p < 0.001). Conclusion Higher vaginal bacterial counts can be found in women with BV and gingivitis in comparison to women with BV but not gingivitis. P

  12. 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

  13. 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

  14. 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

  15. 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.

  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. Tooth - abnormal shape

    MedlinePlus

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... from many different conditions. Specific diseases can affect tooth shape, tooth color, time of appearance, or absence ...

  18. Congenital platelet function defects

    MedlinePlus

    Kottke-Marchant K. Platelet disorders. In: Hsi ED, ed. Hematopathology . 2nd ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 2. Nichols WL. Von Willebrand disease and hemorrhagic abnormalities of platelet ...

  19. [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

  20. 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 ...

  1. 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) ...

  2. Development and evaluation of acid-buffering bioadhesive vaginal tablet for mixed vaginal infections.

    PubMed

    Alam, Mohd Aftab; Ahmad, Farhan Jalees; Khan, Zeenat Iqbal; Khar, Roop Krishen; Ali, Mushir

    2007-01-01

    An acid-buffering bioadhesive vaginal tablet was developed for the treatment of genitourinary tract infections. From the bioadhesion experiment and release studies it was found that polycarbophil and sodium carboxymethylcellulose is a good combination for an acid-buffering bioadhesive vaginal tablet. Sodium monocitrate was used as a buffering agent to provide acidic pH (4.4), which is an attribute of a healthy vagina. The effervescent mixture (citric acid and sodium bicarbonate) along with a superdisintegrant (Ac-Di-sol) was used to enhance the swellability of the bioadhesive tablet. The drugs clotrimazole (antifungal) and metronidazole (antiprotozoal as well as an antibacterial) were used in the formulation along with Lactobacillus acidophilus spores to treat mixed vaginal infections. From the ex vivo retention study it was found that the bioadhesive polymers hold the tablet for more than 24 hours inside the vaginal tube. The hardness of the acid-buffering bioadhesive vaginal tablet was optimized, at 4 to 5 kg hardness the swelling was found to be good and the cumulative release profile of the developed tablet was matched with a marketed conventional tablet (Infa-V). The in vitro spreadability of the swelled tablet was comparable to the marketed gel. In the in vitro antimicrobial study it was found that the acid-buffering bioadhesive tablet produces better antimicrobial action than marketed intravaginal drug delivery systems (Infa-V, Candid-V and Canesten 1). PMID:18181530

  3. 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. PMID:26152551

  4. 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

  5. [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. PMID:26817249

  6. Pregnancy and Vaginal Delivery after Sacrohysteropexy

    PubMed Central

    Balsak, Deniz; Eser, Ahmet; Erol, Onur; Deniz Altıntaş, Derya; Aksin, Şerif

    2015-01-01

    Pregnancy and birth after a Pelvic Organ Prolapse (POP) surgery is a rare condition and less is known about the method for delivery. A 31-year-old women with gravida 3 para 3 underwent abdominal sacrohysteropexy and transobturatuar tape (TOT) procedures for stage III prolapse who delivered via vaginal birth and showed no relapse. Sacrohysteropexy is a good option for women with POP who desire fertility with a long term follow-up period. PMID:26199773

  7. 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

  8. 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

  9. 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

  10. 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.

  11. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  12. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  13. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  14. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  15. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  16. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  17. 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

  18. 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.

  19. [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. PMID:24842642

  20. A rare case of abnormal uterine bleeding caused by cavernous hemangioma: a case report

    PubMed Central

    2010-01-01

    Introduction Cavernous hemangiomas of the uterus are extremely rare, benign lesions. A survey of the current literature identified fewer than 50 cases of hemangioma of the uterus. Case presentation We report a case of cavernous hemangioma of the uterus in a 27-year-old Malay, para 1 woman who presented at our hospital with torrential vaginal bleeding having been transferred by land ambulance from a district hospital 30 minutes away. 11 weeks previously she had an urgent cesarean section at our hospital. She had to undergo a hysterectomy to control her bleeding after other measures were unsuccessful. A histopathological report confirmed a diffuse ramifying hemangioma of the cervix and uterus with left hematosalpinx. Conclusion Most ramifying hemangioma lesions are asymptomatic and are found incidentally, but sometimes they may cause abnormal vaginal bleeding and hence should be included in the differential diagnosis of patients with vaginal bleeding. Hysterectomy is the primary mode of treatment in most symptomatic cases. PMID:20478031

  1. Delivery by cesarean section after embolization for vaginal arteriovenous malformation.

    PubMed

    Hasegawa, Toru; Yamakawa, Yoshihiro; Ota, Satoshi; Kamei, Tetsuya; Tateno, Masaya

    2008-01-01

    Vaginal arteriovenous malformation (AVM) can lead to life-threatening complications on delivery. No deliveries have been reported after selective embolization for a vaginal AVM. A 34-year-old nulliparous woman was found to have an arterial pulsatile mass on the left vaginal wall. The findings of magnetic resonance imaging and magnetic resonance angiography were consistent with an AVM. Selective transcatheter embolization for the AVM was done and, afterwards, the patient was found to be pregnant. The prenatal course was uneventful and the patient underwent elective cesarean delivery at term. Vaginal AVM can be successfully treated with selective embolization, with a good obstetric outcome. PMID:17671389

  2. 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

  3. 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

  4. Computerized screening of children congenital heart diseases.

    PubMed

    Sepehri, Amir A; Hancq, Joel; Dutoit, Thierry; Gharehbaghi, Arash; Kocharian, Armen; Kiani, A

    2008-11-01

    In this paper, we propose a method for automated screening of congenital heart diseases in children through heart sound analysis techniques. Our method relies on categorizing the pathological murmurs based on the heart sections initiating them. We show that these pathelogical murmur categories can be identified by examining the heart sound energy over specific frequency bands, which we call, Arash-Bands. To specify the Arash-Band for a category, we evaluate the energy of the heart sound over all possible frequency bands. The Arash-Band is the frequency band that provides the lowest error in clustering the instances of that category against the normal ones. The energy content of the Arash-Bands for different categories constitue a feature vector that is suitable for classification using a neural network. In order to train, and to evaluate the performance of the proposed method, we use a training data-bank, as well as a test data-bank, collectively consisting of ninety samples (normal and abnormal). Our results show that in more than 94% of cases, our method correctly identifies children with congenital heart diseases. This percentage improves to 100%, when we use the Jack-Knife validation method over all the 90 samples. PMID:18718691

  5. Three dimensional echocardiography in congenital heart defects

    PubMed Central

    Shirali, Girish S.

    2008-01-01

    Three dimensional echocardiography (3DE) is a new, rapidly evolving modality for cardiac imaging. Important technological advances have heralded an era where practical 3DE scanning is becoming a mainstream modality. We review the modes of 3DE that can be used. The literature has been reviewed for articles that examine the applicability of 3DE to congenital heart defects to visualize anatomy in a spectrum of defects ranging from atrioventricular septal defects to mitral valve abnormalities and Ebstein's anomaly. The use of 3DE color flow to obtain echocardiographic angiograms is illustrated. The state of the science in quantitating right and left ventricular volumetrics is reviewed. Examples of novel applications including 3DE transesophageal echocardiography and image-guided interventions are provided. We also list the limitations of the technique, and discuss potential future developments in the field. PMID:20300232

  6. 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

  7. [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. PMID:26552024

  8. [Congenital defects of tibia and fibula].

    PubMed

    de Meulemeester, F R; Verbout, A J

    1988-12-01

    This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients. PMID:3238675

  9. [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. PMID:26776286

  10. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  11. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  12. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  13. [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

  14. Vaginal Cuff Dehiscence in Robotic-Assisted Total Hysterectomy

    PubMed Central

    Kashani, Shabnam; Gallo, Taryn; Sargent, Anita; ElSahwi, Karim; Silasi, Dan-Arin

    2012-01-01

    Study Objective: The aim of this study was to estimate the cumulative incidence of vaginal cuff dehiscence in robotic-assisted total hysterectomies in our patients and to provide recommendations to decrease the incidence of vaginal cuff dehiscence. Methods: This was an observational case series, Canadian Task Force Classification II-3 conducted at an academic and community teaching hospital. A total of 654 patients underwent robotic-assisted total laparoscopic hysterectomy for both malignant and benign reasons from September 1, 2006 to March 1, 2011 performed by a single surgeon. The da Vinci Surgical System was used for robotic-assisted total laparoscopic hysterectomy. Results: There were 3 cases of vaginal cuff dehiscence among 654 robotic-assisted total laparoscopic hysterectomies, making our cumulative incidence of vaginal cuff dehiscence 0.4%. The mean time between the procedures and vaginal cuff dehiscence was 44.3 d (6.3 wk). All patients were followed up twice after surgery, at 3 to 4 wk and 12 to 16 wk. Conclusion: In our study, the incidence of vaginal cuff dehiscence after robotic-assisted total laparoscopic hysterectomy compares favorably to that of total abdominal and vaginal hysterectomy. Our study suggests that the incidence of vaginal cuff dehiscence is more likely related to the technique of colpotomy and vaginal cuff suturing than to robotic-assisted total hysterectomy per se. With proper technique and patient education, our vaginal dehiscence rate has been 0.4%, which is 2.5 to 10 times less than the previously reported vaginal cuff dehiscence rate in the literature. PMID:23484559

  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. Vaginal microbiome of reproductive-age women

    PubMed Central

    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.

    2011-01-01

    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 [χ2(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. PMID:20534435

  19. Sequential vaginal cultures from normal young women.

    PubMed Central

    Sautter, R L; Brown, W J

    1980-01-01

    Vaginal specimens were collected two to three times a week for 1 month from seven nurses. A total of 65 specimens were collected. Each sample consisted of three swabs and a saline wash. Semiquantitation of anaerobic and aerobic bacteria, mycoplasma and ureaplasma, and yeast was performed. Numerous species were recovered in each specimen; at least 37 species were isolated. Lactobacilli, Corynebacterium, Ureaplasma, Mycoplasma, Bacteroides melaninogenicus, and Candida albicans, when present, tended to remain throughout the entire month. Other organisms were present on a more sporadic basis. The number of organisms varied greatly during the sampling for each individual, whereas the types of organisms isolated from a particular subject remained relatively constant. PMID:7381013

  20. Vaginal "fisting" as a cause of death.

    PubMed

    Fain, D B; McCormick, G M

    1989-03-01

    We describe the death of a young girl that resulted from the insertion of a clenched hand and forearm into her vagina during heterosexual activity. (The male homosexual practice of rectal fist insertion has been described previously.) We believe this death to be the first reported case of a "fisting" death due to vaginal fist insertion during heterosexual activity. This death is reported to alert forensic pathologists, medicolegal death investigators, and coroners aware of the role of aberrant sexual activity and its potential to cause death. PMID:2929548

  1. Chromosomal Abnormalities and Schizophrenia

    PubMed Central

    BASSETT, ANNE S.; CHOW, EVA W.C.; WEKSBERG, ROSANNA

    2011-01-01

    Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness. This paper reviews the evidence for associations between chromosomal abnormalities and schizophrenia and related disorders. The results indicate that 22q11.2 microdeletions detected by fluorescence in-situ hybridization (FISH) are significantly associated with schizophrenia. Sex chromosome abnormalities seem to be increased in schizophrenia but insufficient data are available to indicate whether schizophrenia or related disorders are increased in patients with sex chromosome aneuploidies. Other reports of chromosomal abnormalities associated with schizophrenia have the potential to be important adjuncts to linkage studies in gene localization. Advances in molecular cytogenetic techniques (i.e., FISH) have produced significant increases in rates of identified abnormalities in schizophrenia, particularly in patients with very early age at onset, learning difficulties or mental retardation, or dysmorphic features. The results emphasize the importance of considering behavioral phenotypes, including adult onset psychiatric illnesses, in genetic syndromes and the need for clinicians to actively consider identifying chromosomal abnormalities and genetic syndromes in selected psychiatric patients. PMID:10813803

  2. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders. PMID:25783597

  3. The cervico-vaginal epithelium during 20 cycles' use of a combined contraceptive vaginal ring.

    PubMed

    Roumen, F J; Boon, M E; van Velzen, D; Dieben, T O; Coelingh Bennink, H J

    1996-11-01

    The aim of the study was to evaluate the influence of a combined contraceptive vaginal ring (CCVR) made of Silastic on the cervico-vaginal epithelium during 20 cycles of use. A total of 76 volunteers used the CCVR releasing 0.120 mg etonogestrel and 0.015 mg ethinyloestradiol daily. Cytological samples were taken of the vaginal epithelium, the ectocervix and the endocervix before the start, at 4 and 12 months, and at the end of the study. Cytology, hormonal profiles, human papilloma virus (HPV) status, DNA-flow cytometry, bacterial flora, and morphometry was performed on these samples. Colposcopy and histopathology of biopsy specimens were performed at the end. No cytological changes of the squamous epithelium or the columnar epithelium were found. HPV was detected in three samples of three different women. At least two of them reverted to HPV negative during the rest of the study period. Aneuploidy was diagnosed in 11 women before the study. Seven of them changed to diploid during the study. No changes from diploid to aneuploid were seen. Aneuploidy was not seen in any of the HPV positive samples. Although bacterial flora showed considerable variation during the study, no significant influence of the CCVR could be established. Morphometrical analysis showed an increasing nucleus:cytoplasm ratio of the squamous cells during the study. Mild dysplasia was detected in one woman at the end of the study. It was concluded that no unfavourable cytological or bacteriological changes of the cervico-vaginal epithelium were demonstrated during 20 cycles of CCVR use. The vaginal epithelium became more progestogenic during the study. PMID:8981130

  4. 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

  5. Implantation of Total Artificial Heart in Congenital Heart Disease

    PubMed Central

    Adachi, Iki; Morales, David S. L.

    2014-01-01

    In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification. PMID:25078059

  6. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  7. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  8. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  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. Two cases of vaginal bleeding in pet rats

    PubMed Central

    Sadar, Miranda J.; Parker, Dennilyn L.; Burgess, Hilary; Wojnarowicz, Chris

    2011-01-01

    Two unrelated rats were presented to the Western College of Veterinary Medicine emergency service for vaginal bleeding. Each was taken to surgery due to marked blood loss and suspicion of uterine pathology. Despite similar clinical presentation, gross and histopathologic examination revealed 2 different underlying disease processes, uterine dilatation with mild endometritis and vaginal polyp. PMID:22210942

  11. Ultrastructural findings in congenital anemia, dyskeratosis, and progressive alopecia in Polled Hereford calves.

    PubMed

    Steffen, D J; Leipold, H W; Elliott, G S; Smith, J E

    1992-05-01

    Ultrastructural evidence of dyserythropoiesis was found in ten calves (ages 1 to 16 months) previously diagnosed as having congenital anemia, dyskeratosis, and progressive alopecia. Morphologic abnormalities found in erythroid precursors of all calves were associated with the nucleus. Rubriblast nuclei were irregular with numerous blebs, indentations, and deep clefts. Elongated blebs appeared as satellite nuclei in some sections. Nuclear membranes had numerous defects or gaps, which were frequently present in, but not limited to, recently divided cells. Cytoplasmic material could be found within these gaps and extending into the nucleus. Rubricytes had chromatin that was abnormally condensed and hyperosmiophilic, with numerous translucent vacuoles present. Binucleate rubricytes occurred frequently in affected calves. These changes resemble those of type I congenital dyserythropoiesis in human beings, and we suggest congenital anemia, dyskeratosis, and progressive alopecia of Polled Hereford calves as the appropriate diagnostic terms to describe this disease. PMID:1621331

  12. 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

  13. Congenital Tracheal Web Malformation in a Wild Brown Bear ( Ursus arctos ), Sweden, 2010.

    PubMed

    Ågren, Erik O; Söderberg, Arne

    2016-04-28

    We describe a congenital tracheal web malformation in a wild female brown bear (Ursus arctos) yearling that was euthanized after being hit by a train in Norrbotten County, Sweden, December 2010. A 3-cm-long, abnormal, longitudinal mucosal fold divided the trachea into two halves, without obviously blocking the airflow. PMID:27054473

  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. Plastic neo-vaginal construction in Mayer-Rokitansky-Küster-Hauser syndrome: an expert opinion paper on the decision-making treatment process.

    PubMed

    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

  16. 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. PMID:25683694

  17. 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

  18. Quantitative bacteriology of the vaginal flora.

    PubMed

    Bartlett, J G; Onderdonk, A B; Drude, E; Goldstein, C; Anderka, M; Alpert, S; McCormack, W M

    1977-08-01

    Quantitative bacteriology was performed on vaginal secretions from healthy adult women. The analysis included a single sample from 17 college students and 35 samples from five volunteers collected at intervals of three to five days throughout the menstrual cycle. Mean concentrations in all 52 specimens were 10(8.1) aerobic bacteria/g and 10(9.1) anaerobic bacteria/g. The rank of predominant organisms, according to rates of recovery in concentrations of greater than 10(5) colony-forming units/g, was anaerobic and facultative Lacrobacillus species, Peptococcus species, Bacteroides species, Staphylococcus epidermidis, Corynebacterium species, Peotostreptococcus species, and Eubacterium species. Sequential samples collected throughout the menstrual cycle showed relatively consistent mean levels of anaerobes and a significant decrease in concentrations of aerobes in premenstrual specimens compared with those in the specimens collected in the week following onset of menses. Analysis of sequential specimens from each of the five individuals showed considerable variation in species recovered. These data indicate that the vaginal flora in healthy adult women is a dynamic ecosystem in which anaerobes are usually the numerically dominant bacteria. PMID:894079

  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. Importance of vaginal microbes in reproductive health.

    PubMed

    Li, Jingru; McCormick, John; Bocking, Alan; Reid, Gregor

    2012-03-01

    Over 250 species of bacteria have been detected in the vagina using genomic sequencing. Lactobacillus iners and L crispatus dominate in most women who have a clinically healthy status. Unfortunately, the abundance profiles can change dramatically with significant increases in pathogens associated with bacterial vaginosis (BV) and aerobic vaginitis (AV). The BV microbiota have at least 4 different abundance profiles, indicating this is a complex condition, yet one that is treated with essentially 2 antimicrobial agents which were never designed for eradicting these organisms in dense biofilms. Future studies will uncover which abundance profiles are particularly associated with a risk of preterm labor, and hopefully identify the mechanisms involved in the switch from healthy to a BV or AV state. The use of probiotic lactobacilli vaginally and orally has shown great promise in helping to restore and maintain a healthy vagina, and studies have shown that certain strains have the capacity to interfere with the inflammatory pathway leading to preterm delivery. There is enormous need for new diagnostic and therapeutic modalities, especially to save the lives of millions of babies in resource-disadvantaged countries. PMID:22383775

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

    PubMed

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

    2015-01-01

    The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). PMID:26621159

  2. Health Practices and Vaginal Microbicide Acceptability among Urban Black Women

    PubMed Central

    Wade, Christine; Chao, Maria T.; Kronenberg, Fredi; Cushman, Linda F.

    2008-01-01

    Abstract Background Intravaginal topical microbicides are being investigated for prevention of HIV transmission. Use of vaginal microbicides will constitute a new type of practice, occurring in the context of other vaginal practices related to contraception, hygiene, and self-care, which are affected by cultural norms and personal beliefs. Given the high rate of HIV infection among black women, research on practices and decision making relevant to microbicide acceptability is needed in this population. Methods Twenty-three black women in New York City, aged 25–64, completed in-person semistructured interviews and self-administered questionnaires. Quantitative analyses examined vaginal practices and willingness to use microbicides. Qualitative analyses explored underlying decision-making processes involved in choices regarding vaginal practices and general healthcare. Results Willingness to use vaginal products for HIV prevention was high, especially among more educated women. Safety was a major concern, and women were cautious about using vaginal products. Whereas some viewed synthetic products as having potentially harmful side effects, others perceived natural products as risky because of insufficient testing. Choices about vaginal practices were affected by assessments of risk and efficacy, prior experience, cultural background, and general approach to healthcare. Conclusions The majority of women in the sample expressed willingness to use a vaginal product for HIV prevention. Decision-making processes regarding vaginal practices were complex and were affected by social, cultural, and personal factors. Although specific preferences may vary, attitudes toward using a vaginal product are likely to be positive when side effects are minimal and the product is considered safe. PMID:18788991

  3. Vaginal breech delivery: results of a prospective registration study

    PubMed Central

    2013-01-01

    Background Most countries recommend planned cesarean section in breech deliveries, which is considered safer than vaginal delivery. As one of few countries in the western world Norway has continued to practice planned vaginal delivery in selected women. The aim of this study is to evaluate prospectively registered neonatal and maternal outcomes in term singleton breech deliveries in a Norwegian hospital during a ten years period. We aim to compare maternal and neonatal outcomes in term breech pregnancies subjected either to planned vaginal or elective cesarean section. Methods A prospective registration study including 568 women with term breech deliveries (>37 weeks) consecutively registered at Sorlandet Hospital Kristiansand between 2001 and 2011. Fetal and maternal outcomes were compared according to delivery method; planned vaginal delivery versus planned cesarean section. Results Of 568 women, elective cesarean section was planned in 279 (49%) cases and vaginal delivery was planned in 289 (51%) cases. Acute cesarean section was performed in 104 of the planned vaginal deliveries (36.3%). There were no neonatal deaths. Two cases of serious neonatal morbidity were reported in the planned vaginal group. One infant had seizures, brachial plexus injury, and cephalhematoma. The other infant had 5-minutes Apgar < 4. Twenty-nine in the planned vaginal group (10.0%) and eight in the planned cesarean section group (2.9%) (p < 0.001) were transferred to the neonatal intensive care unit. However, only one infant was admitted for ≥4 days. According to follow-up data (median six years) none of these infants had long-term sequelae. Regarding maternal morbidity, blood loss was the only variable that was significantly higher in the planned cesarean section group versus in the vaginal delivery group (p < 0.001). Conclusions Strict guidelines were followed in all cases. There were no neonatal deaths. Two infants had serious neonatal morbidity in the planned

  4. UNCOMPLICATED MIDVAGINAL VESICO-VAGINAL FISTULA REPAIR IN IBADAN: A COMPARISON OF THE ABDOMINAL AND VAGINAL ROUTES

    PubMed Central

    Morhason-Bello, I. O.; Ojengbede, O. A.; Adedokun, B. O.; Okunlola, M. A; Oladokun, A.

    2008-01-01

    Background: Obstetric fistula is a resultant effect of prolonged obstructed labour. The best surgical management of simple uncomplicated fistula determines the outcome of care. Objective: To compare outcome of uncomplicated mid-vaginal fistula between vaginal and abdominal route of repair. Materials and Method: This was a hospital based retrospective study conducted at the University College Hospital, Ibadan from January, 2000 till December, 2006. Result: Of the 71 midvaginal fistulae managed, 40.8% had abdominal repair while the remainder were through vaginal approach. The overall repair success rate was 79.2% with comparable outcome in both groups-78.3% for the abdominal and 80% for the vaginal group (p=0.999). The duration of hospital stay did not differ significantly between the groups (p=0.972). Post operative complications were found in 41.4% of the abdominal group compared to none in the vaginal group (p<0.001). The complications were failed repair (20.7%) and urinary tract infection (20.7%). The mean estimated blood loss was 465.5ml in the abdominal group compared to 332.9ml for the vaginal group (p=0.303). Conclusion: Despite the comparable surgical repair outcome of the two methods, the vaginal approach is associated with lesser blood loss and lower risk of post-operative complications. It is recommended that the vaginal route should be employed in the repair of uncomplicated midvaginal fistula unless there are other compelling reasons to the contrary. PMID:25161453

  5. Adult duodenal intussusception associated with congenital malrotation

    PubMed Central

    Gardner-Thorpe, J; Hardwick, RH; Carroll, NR; Gibbs, P; Jamieson, NV; Praseedom, RK

    2007-01-01

    Enteroenteric intussusception is a condition in which full-thickness bowel wall becomes telescoped into the lumen of distal bowel. In adults, there is usually an abnormality acting as a lead point, usually a Meckels' diverticulum, a hamartoma or a tumour. Duodeno-duodenal intussusception is exceptionally rare because the retroperitoneal situation fixes the duodenal wall. The aim of this report is to describe the first published case of this condition. A patient with duodeno-duodenal intussusception secondary to an ampullary lesion is reported. A 66 year-old lady presented with intermittent abdominal pain, weight loss and anaemia. Ultrasound scanning showed dilated bile and pancreatic ducts. CT scanning revealed intussusception involving the full-thickness duodenal wall. The lead point was an ampullary villous adenoma. Congenital partial (type II) malrotation was found at operation and this abnormality permitted excessive mobility of the duodenal wall such that intussusception was possible. This condition can be diagnosed using enhanced CT. Intussusception can be complicated by bowel obstruction, ischaemia or bleeding, and therefore the underlying cause should be treated as soon as possible. PMID:17657849

  6. Congenital syphilis and glomerulonephritis with evidence for immune pathogenesis

    PubMed Central

    Wiggelinkhuizen, J.; Kaschula, R. O. C.; Uys, C. J.; Kuijten, R. H.; Dale, J.

    1973-01-01

    In 3 infants with congenital syphilis the dominant clinical manifestation of syphilitic kidney disease was the nephrotic syndrome. Mesangioendothelial proliferation was present in 2 cases and mixed proliferative glomerulonephritis with crescent formation in the third. The severity of the clinical and histopathological abnormalities could be related to the apparent duration of the illness. In all 3 cases immune complex deposition could be shown within and along the epithelial aspect of the glomerular basement membrane on light, electron, and immunofluorescent microscopy. These features, together with a reduced total serum haemolytic complement, suggest an immune pathogenesis of the glomerulonephritis associated with early congenital syphilis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5 PMID:4267344

  7. Semilobar Holoprosencephaly with Congenital Oropharyngeal Stenosis in a Term Neonate

    PubMed Central

    Hishikawa, Kenji; Fujinaga, Hideshi; Nagata, Chie; Higuchi, Masataka; Ito, Yushi

    2015-01-01

    Background Holoprosencephaly (HPE) is often accompanied by a deficit in midline facial development; however, congenital oropharyngeal stenosis in neonates with HPE has not been reported before. We describe a case of a neonate with prenatally diagnosed semilobar HPE accompanied by congenital oropharyngeal stenosis. Case Report The patient was born at 39 weeks of gestation and developed dyspnea shortly after. Laryngoscopic test revealed oropharyngeal stenosis. Nasal continuous positive airway pressure, high-flow nasal cannula, and nasopharyngeal airway did not resolve her dyspnea; tracheostomy was required. Conclusion Neonates with HPE might be at higher risk of pharyngeal stenosis because of the functional and/or anatomical abnormalities. In the case of dyspnea in neonates with HPE, laryngoscopic evaluation should be considered. PMID:26495165

  8. Arrhythmia diagnosis and management throughout life in congenital heart disease.

    PubMed

    Clark, Bradley C; Berul, Charles I

    2016-03-01

    Arrhythmias, covering bradycardia and tachycardia, occur in association with congenital heart disease (CHD) and as a consequence of surgical repair. Symptomatic bradycardia can occur due to sinus node dysfunction or atrioventricular block secondary to either unrepaired CHD or surgical repair in the area of the conduction system. Tachyarrhythmias are common in repaired CHD due to scar formation, chamber distension or increased chamber pressure, all potentially leading to abnormal automaticity and heterogeneous conduction properties as a substrate for re-entry. Atrial arrhythmias occur more frequently, but ventricular tachyarrhythmias may be associated with an increased risk of sudden cardiac death, notably in patients with repaired tetralogy of Fallot or aortic stenosis. Defibrillator implantation provides life-saving electrical therapy for hemodynamically unstable arrhythmias. Ablation procedures with 3D electroanatomic mapping technology offer a viable alternative to pharmacologic or device therapy. Advances in electrophysiology have allowed for successful management of arrhythmias in patients with congenital heart disease. PMID:26642231

  9. 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

  10. 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 ...

  11. 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,…

  12. 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

  13. The relation between vaginal pH and the microbiological status in vaginitis.

    PubMed

    Hanna, N F; Taylor-Robinson, D; Kalodiki-Karamanoli, M; Harris, J R; McFadyen, I R

    1985-12-01

    The vaginal pH, microbial flora and presence of clue cells were investigated in 89 women who were seen at a sexually transmitted diseases clinic with a vaginal discharge or because they were contacts of men with gonococcal or non-gonococcal urethritis or because they were seeking a routine examination. None of the women had received antibiotics for at least 4 weeks before examination. A clinically normal vaginal secretion was found in 21 (55%) of 38 women who had a vaginal pH of 5.0-5.5, while such a secretion was found in only 7 (14%) of 51 women who had a pH value of 6.0-7.5. Clue cells, Chlamydia trachomatis and Mycoplasma hominis were found two to three times more often in women with the higher pH value than in those with the lower value and Ureaplasma urealyticum and Trichomonas vaginalis also occurred more frequently in the former group. Furthermore, large numbers of M. hominis organisms (greater than or equal to 10(6) colour changing units/ml) were associated significantly with the higher pH value. However, there was no appreciable difference in the distribution of Candida albicans between the two groups. C. trachomatis but not the other micro-organisms was isolated most often from women who were taking oral contraceptives. The results indicate that a pH of greater than or equal to 6.0 is strongly predictive of infection and may be more useful than the type of discharge in suggesting a need for confirmatory microbiological tests. PMID:3910080

  14. 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. PMID:23919862

  15. Local Probiotic Therapy for Vaginal Candida albicans Infections.

    PubMed

    Kovachev, Stefan Miladinov; Vatcheva-Dobrevska, Rossitza Stefanova

    2015-03-01

    The high rate of vaginal Candida albicans recurrence is attributed to azole resistance rates as high as 15%. The aim of this study was to determine the clinical and microbiological efficacy of standard azole therapy for treatment of vaginal C. albicans infection alone and in combination with local probiotic as well as the effects on vaginal microbiota. This study included 436 women with vaginal candidiasis randomly assigned to two treatment groups. The first group, with 207 patients (12 dropouts), was administered 150 mg fluconazole and a single vaginal globule of fenticonazole (600 mg) on the same day. The second group of 209 patients (8 dropouts) followed the same treatment schedule; however, ten applications of a vaginal probiotic containing Lactobacillus acidophilus, L. rhamnosus, Streptococcus thermophilus, and L. delbrueckii subsp. bulgaricus were also administered beginning the fifth day after azole treatment. Microbiological analysis of the therapy efficacy in the first treatment group showed C. albicans resistance in over 30% of patients. Clinical complaints persisted after treatment administration in 79.7% (n = 165) of women in this group. Clinical complaints in the second group decreased to 31.1% (n = 65) and microbiological efficacy also improved among investigated parameters, from 93.7% (n = 193) to 95.2% (n = 198). The local application of probiotics after administration of combined azoles for treatment of vaginal C. albicans infections increases therapy efficacy and could prevent relapse. PMID:25362524

  16. 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

  17. Effects of a One Year Reusable Contraceptive Vaginal Ring on Vaginal Microflora and the Risk of Vaginal Infection: An Open-Label Prospective Evaluation

    PubMed Central

    Huang, Yongmei; Merkatz, Ruth B.; Hillier, Sharon L.; Roberts, Kevin; Blithe, Diana L.; Sitruk-Ware, Régine; Creinin, Mitchell D.

    2015-01-01

    Background A contraceptive vaginal ring (CVR) containing Nestorone® (NES) and ethinyl estradiol (EE) that is reusable for 1- year (13 cycles) is under development. This study assessed effects of this investigational CVR on the incidence of vaginal infections and change in vaginal microflora. Methods There were 120 women enrolled into a NES/EE CVR Phase III trial and a microbiology sub-study for up to 1- year of cyclic product use. Gynecological examinations were conducted at baseline, the first week of cycle 6 and last week of cycle 13 (or during early discontinuation visits). Vaginal swabs were obtained for wet mount microscopy, Gram stain and culture. The CVR was removed from the vagina at the last study visit and cultured. Semi-quantitative cultures for Lactobacillus, Gardnerella vaginalis, Enterococcus faecalis, Staphylococcus aureus, Escherichia coli, anaerobic gram negative rods (GNRs), Candida albicans and other yeasts were performed on vaginal and CVR samples. Vaginal infections were documented throughout the study. Results Over 1- year of use, 3.3% of subjects were clinically diagnosed with bacterial vaginosis, 15.0% with vulvovaginal candidiasis, and 0.8% with trichomoniasis. The detection rate of these three infections did not change significantly from baseline to either Cycle 6 or 13. Nugent scores remained stable. H2O2-positive Lactobacillus dominated vaginal flora with a non-significant prevalence increase from 76.7% at baseline to 82.7% at cycle 6 and 90.2% at cycle 13, and a median concentration of 107 colony forming units (cfu) per gram. Although anaerobic GNRs prevalence increased significantly, the median concentration decreased slightly (104 to 103cfu per gram). There were no significant changes in frequency or concentrations of other pathogens. High levels of agreement between vaginal and ring surface microbiota were observed. Conclusion Sustained use of the NES/EE CVR did not increase the risk of vaginal infection and was not disruptive to

  18. Vitamin A Deficiency Induces Congenital Spinal Deformities in Rats

    PubMed Central

    Li, Zheng; Shen, Jianxiong; Wu, William Ka Kei; Wang, Xiaojuan; Liang, Jinqian; Qiu, Guixing; Liu, Jiaming

    2012-01-01

    Most cases of congenital spinal deformities were sporadic and without strong evidence of heritability. The etiology of congenital spinal deformities is still elusive and assumed to be multi-factorial. The current study seeks to elucidate the effect of maternal vitamin A deficiency and the production of congenital spinal deformities in the offsping. Thirty two female rats were randomized into two groups: control group, which was fed a normal diet; vitamin A deficient group, which were given vitamin A-deficient diet from at least 2 weeks before mating till delivery. Three random neonatal rats from each group were killed the next day of parturition. Female rats were fed an AIN-93G diet sufficient in vitamin A to feed the rest of neonates for two weeks until euthanasia. Serum levels of vitamin A were assessed in the adult and filial rats. Anteroposterior (AP) spine radiographs were obtained at week 2 after delivery to evaluate the presence of the skeletal abnormalities especially of spinal deformities. Liver and vertebral body expression of retinaldehyde dehydrogenase (RALDHs) and RARs mRNA was assessed by reverse transcription-real time PCR. VAD neonates displayed many skeletal malformations in the cervical, thoracic, the pelvic and sacral and limbs regions. The incidence of congenital scoliosis was 13.79% (8/58) in the filial rats of vitamin A deficiency group and 0% in the control group. Furthermore, vitamin A deficiency negatively regulate the liver and verterbral body mRNA levels of RALDH1, RALDH2, RALDH3, RAR-α, RAR-β and RAR-γ. Vitamin A deficiency in pregnancy may induce congenital spinal deformities in the postnatal rats. The decreases of RALDHs and RARs mRNA expression induced by vitamin A deprivation suggest that vertebral birth defects may be caused by a defect in RA signaling pathway during somitogenesis. PMID:23071590

  19. 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

  20. The effect of a contraceptive vaginal ring and oral contraceptives on the vaginal flora.

    PubMed

    Roy, S; Wilkins, J; Mishell, D R

    1981-10-01

    Premenopausal women seeking a steroid contraceptive method were allowed to choose between a contraceptive vaginal ring (CVR) containing levonorgestrel and estradiol used in a 3-week in, 1-week out regimen (n=20) and an oral contraceptive (OC) containing levonorgestrel and ethinyl estradiol in a 28-day regimen (n = 10). Cultures from the posterior vaginal fornix were obtained before therapy in both groups and monthly for 6 months for the CVR group and after 1, 3, and 6 months for the OC group. These cultures were streaked on specific media to provide quantitative aerobic and anaerobic, lactobacillus, Candida sp., Gardnerella vaginalis and Neisseria gonorrhoeae counts in micro-organisms per milliliter. A comparison of the number and types of organisms isolated from vaginal cultures obtained initially and at 6 months demonstrated no statistically significant differences in colony counts between CVR and OC users. The results of this study suggest that the use of the CVR is not associated with a greater growth of pathogens than is oral administration of a progestin and estrogen combination. PMID:6797788

  1. [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

  2. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  3. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  4. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  5. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  6. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action. PMID:19603898

  7. Effects of estroprogestins containing natural estrogen on vaginal flora.

    PubMed

    De Seta, Francesco; Restaino, Stefano; Banco, Rubina; Conversano, Ester; De Leo, Rossella; Tonon, Maddalena; Maso, Gianpaolo; Barbati, Giulia; Lello, Stefano

    2014-11-01

    Estroprogestins with "natural oestrogen" has represented a new option in terms of combined hormonal contraception. So, the aim of this study is to investigate how estroprogestins with natural estrogen may modify the vaginal niche. In literature, very few studies focused on the interaction between hormonal contraception and vaginal milieu. This is a prospective comparative study. We enrolled 60 women from January 2013 to September 2013, 30 of them were administered estradiol valerate dienogest (E2V+DNG - Klaira®) in a quadriphasic regimen, while the other 30 women were administered 17-β estradiol with nomestrol acetate (EV+NOMAC - Zoely®) in a monophasic regimen. After a baseline study of vaginal milieu at recruitment of patients (Gram stain with Nugent score, vaginal pH, vaginal wet mount for the quantification of leukocytes, Lactobacilli and/or presence of Candida), we performed the same follow-up after six months of estroprogestin therapy. Our results showed that the women treated with E2V+DNG had a trend of an improvement of vaginal health in terms of increase of lactobacillar flora and reduction of vaginal pH in place of women treated with EV+NOMAC that showed a reduction of cervical mucus. Finally, our data about the effects on vaginal flora exerted by two estroprogestin pills (EPs) containing a natural estrogen suggest slight, but interesting differences in terms of vaginal ecology. These differences could be related to the type of estrogen, type of progestin, regimen of administration and, after all, to the net balance between estrogenic and progestin component of the EPs. PMID:24993504

  8. 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.

  9. Temporal Dynamics of the Human Vaginal Microbiota

    PubMed Central

    Gajer, Pawel; Brotman, Rebecca M.; Bai, Guoyun; Sakamoto, Joyce; Schütte, Ursel M.E.; Zhong, Xue; Koenig, Sara S.K.; Fu, Li; Ma, Zhanshan; Zhou, Xia; Abdo, Zaid; Forney, Larry J.; Ravel, Jacques

    2012-01-01

    Elucidating the factors that impinge on the stability of bacterial communities in the vagina may help in predicting the risk of diseases that affect women’s health. Here, we describe the temporal dynamics of the composition of vaginal bacterial communities in 32 reproductive age women over a 16-week period. The analysis revealed the dynamics of five major classes of bacterial communities and showed that some communities change markedly over short time periods, whereas others are relatively stable. Modeling community stability using new quantitative measures indicates that deviation from stability correlates with time in the menstrual cycle, bacterial community composition and sexual activity. The women studied are healthy, thus it appears that neither variation in community composition per se, nor higher levels of observed diversity (co-dominance) are necessarily indicative of dysbiosis, in which there is microbial imbalance accompanied by symptoms. PMID:22553250

  10. Vaginal intercourse frequency and heart rate variability.

    PubMed

    Brody, Stuart; Preut, Ragnar

    2003-01-01

    We examined the relationship between recalled and diary recorded frequency of penile-vaginal intercourse (FSI) and both resting heart rate variability (HRV; an index of cardiac autonomic control and parasympathetic tone associated with cardiovascular health outcomes) and resting diastolic blood pressure (DBP) in 120 healthy adults aged 19-38 (subjects scoring above the 87th percentile on the Lie scale of the Eysenck Personality Inventory were excluded from analyses). As in a previous smaller study, greater HRV was associated with greater FSI (but not masturbation or non-coital sex with a partner) and rated importance of intercourse. There were no sex differences in the HRV-FSI relationship, and the relationship was not explained by including measures of Extraversion, Neuroticism, Depression, Trait Anxiety, or partnership satisfaction. However, the previously obtained negative association of FSI with DBP was not replicated. PMID:14504008

  11. Vaginal Lactobacillus isolates inhibit uropathogenic Escherichia coli.

    PubMed

    Atassi, Fabrice; Brassart, Dominique; Grob, Philipp; Graf, Federico; Servin, Alain L

    2006-04-01

    The purpose of this study was to investigate the antibacterial activities of Lactobacillus jensenii KS119.1 and KS121.1, and Lactobacillus gasserii KS120.1 and KS124.3 strains isolated from the vaginal microflora of healthy women, against uropathogenic, diffusely adhering Afa/Dr Escherichia coli (Afa/Dr DAEC) strains IH11128 and 7372 involved in recurrent cystitis. We observed that some of the Lactobacillus isolates inhibited the growth and decreased the viability of E. coli IH11128 and 7372. In addition, we observed that adhering Lactobacillus strains inhibited adhesion of E. coli IH11128 onto HeLa cells, and inhibited internalization of E. coli IH11128 within HeLa cells. PMID:16553843

  12. Radical Hysterectomy and Total Abdominal Vaginectomy for Primary Vaginal Cancer.

    PubMed

    Ozgul, Nejat; Basaran, Derman; Boyraz, Gokhan; Salman, Coskun; Yuce, Kunter

    2016-03-01

    The aim of this surgical video is to demonstrate en bloc radical removal of uterus and vagina in a patient with clinical early-stage vaginal cancer. Surgical treatment was offered to our patient for clinical early-stage primary vaginal cancer. An en bloc radical hysterectomy, systematic pelvic lymphadenectomy, and total abdominal vaginectomy were performed. Postoperative adjuvant radiation or chemotherapy was not recommended for completely resected pathologic stage I disease with no lymph node involvement and negative surgical margins. Radical surgery can be a treatment option for selected patients with primary vaginal cancer. PMID:26825828

  13. Vaginal microbiome and sexually transmitted infections: an epidemiologic perspective

    PubMed Central

    Brotman, Rebecca M.

    2011-01-01

    Vaginal bacterial communities are thought to help prevent sexually transmitted infections. Bacterial vaginosis (BV) is a common clinical syndrome in which the protective lactic acid–producing bacteria (mainly species of the Lactobacillus genus) are supplanted by a diverse array of anaerobic bacteria. Epidemiologically, BV has been shown to be an independent risk factor for adverse outcomes including preterm birth, development of pelvic inflammatory disease, and acquisition of sexually transmitted infections. Longitudinal studies of the vaginal microbiome using molecular techniques such as 16S ribosomal DNA analysis may lead to interventions that shift the vaginal microbiota toward more protective states. PMID:22133886

  14. Vaginal myomectomy for a thirteen-centimeter anterior myoma.

    PubMed

    Deval, Bruno; Rousset, Pascal; Kayani, Salma

    2013-01-01

    Vaginal myomectomy is an uncommon but advantageous approach for large interstitial uterine fibroids. Myomectomy is performed via laparotomy and laparoscopy; however, in selected cases, vaginal myomectomy has been proven to be a safe and an effective surgical procedure. We report the case of a 38-year-old para one woman with complaints of chronic lower abdominal pain. Preoperative workup revealed a thirteen-centimeter interstitial uterine myoma in the anterior wall. Successful myomectomy was performed via the vaginal route. We will share the preoperative images, operative technique, and postoperative images. PMID:23662225

  15. Vaginal Myomectomy for a Thirteen-Centimeter Anterior Myoma

    PubMed Central

    Deval, Bruno; Rousset, Pascal

    2013-01-01

    Vaginal myomectomy is an uncommon but advantageous approach for large interstitial uterine fibroids. Myomectomy is performed via laparotomy and laparoscopy; however, in selected cases, vaginal myomectomy has been proven to be a safe and an effective surgical procedure. We report the case of a 38-year-old para one woman with complaints of chronic lower abdominal pain. Preoperative workup revealed a thirteen-centimeter interstitial uterine myoma in the anterior wall. Successful myomectomy was performed via the vaginal route. We will share the preoperative images, operative technique, and postoperative images. PMID:23662225

  16. Vaginal calculi in a juvenile harbor porpoise (Phocoena phocoena).

    PubMed

    Norman, Stephanie A; Garner, Michael M; Berta, Susan; Dubpernell, Sandra; Klope, Matthew

    2011-06-01

    A large number of vaginal calculi were observed in a juvenile harbor porpoise (Phocoena phocoena) stranded on Whidbey Island, Washington. Vaginal calculi have been reported in other species, but not in harbor porpoises. Histologic examination of the urinary tract revealed mucosal hyperplasia most likely attributable to the calculi. The calculi were numerous (>30), composed completely of struvite (magnesium ammonium phosphate), and on culture yielded Enterococcus spp., a bacterium not usually associated with struvite urolith formation in domestic animals. The only other lesion of note was severe hepatic lipidosis, and its relationship to the development of the vaginal calculi is unknown. PMID:22946417

  17. Total Laparoscopic Hysterectomy and Laparoscopic-Assisted Vaginal Hysterectomy.

    PubMed

    King, Cara R; Giles, Dobie

    2016-09-01

    Vaginal hysterectomy has been shown to have the lowest complication rate, better cosmesis, and decreased cost compared with alternate routes of hysterectomy. However, there are times when a vaginal hysterectomy is not feasible and an open abdominal hysterectomy should be avoided. Minimally invasive surgery has evolved over the last several decades; with the improvement in optics and surgical instruments, laparoscopic hysterectomy is becoming increasingly common. A total laparoscopic hysterectomy is possible with proper training, including sound technique in laparoscopic suturing for closure of the vaginal cuff. PMID:27521879

  18. Policy for prevention of a retained sponge after vaginal delivery.

    PubMed

    Garry, David J; Asanjarani, Sandra; Geiss, Donna M

    2012-01-01

    Background. Policies for sponge count are not routine practice in most labor and delivery rooms. Ignored or hidden retained vaginal foreign bodies has potentially significant health care morbidity. Case. This was a case of a retained vaginal sponge following an uncomplicated spontaneous vaginal delivery. Delivery room policy resulted in the discovery of the sponge on X-ray when an incorrect sponge count occurred and physical exam did not find the sponge. Conclusion. This emphasizes the use of protocols to enhance patient safety and prevent medical error. PMID:22312370

  19. Policy for Prevention of a Retained Sponge after Vaginal Delivery

    PubMed Central

    Garry, David J.; Asanjarani, Sandra; Geiss, Donna M.

    2012-01-01

    Background. Policies for sponge count are not routine practice in most labor and delivery rooms. Ignored or hidden retained vaginal foreign bodies has potentially significant health care morbidity. Case. This was a case of a retained vaginal sponge following an uncomplicated spontaneous vaginal delivery. Delivery room policy resulted in the discovery of the sponge on X-ray when an incorrect sponge count occurred and physical exam did not find the sponge. Conclusion. This emphasizes the use of protocols to enhance patient safety and prevent medical error. PMID:22312370

  20. 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. PMID:26125962