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Journal of AAPOS : the Official... Jun 2012Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal...
BACKGROUND
Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome.
METHODS
A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy.
RESULTS
The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%).
CONCLUSIONS
Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.
Topics: Aicardi Syndrome; Child; Child, Preschool; Eye Abnormalities; Female; Humans; Infant; Optic Nerve Diseases; Pupil Disorders; Retinal Diseases
PubMed: 22681940
DOI: 10.1016/j.jaapos.2012.01.008 -
Asian Pacific Journal of Cancer... 2011To determine risk factors of high-grade cervical intraepithelial neoplasia (CIN 2-3) among women with atypical squamous cells of undetermined significance (ASC-US)...
OBJECTIVE
To determine risk factors of high-grade cervical intraepithelial neoplasia (CIN 2-3) among women with atypical squamous cells of undetermined significance (ASC-US) Papanicolaou (Pap) smears.
METHODS
Two-hundred and sixty-six women with ASC-US Pap tests who underwent a colposcopy with histologic study were enrolled between August 2008 and June 2010. Patient data including age, education, income, parity, current pills used, number of vaginal deliveries, number of sexual partners, age at first sexual intercourse, history of sexually transmitted diseases, history of pelvic inflammatory disease and smoking habits were obtained. Logistic regression analysis was used to evaluate factors associated with CIN 2-3.
RESULTS
CIN was diagnosed in 134 of 266 women (50.4%). Ninty-seven of these (72.4%) had CIN 1 and 37 (27.6%) had CIN 2-3. Frequency of the latter was lower in women who had at least bachelor's degree graduation as compared to those having less than primary school graduation (odds ratio (OR) 0.085, 95% confidence interval (CI) 0.013-0.557). In addition, those with a higher income (5,000-20,000 baht per month) had less frequent CIN 2-3 (OR 0.378, 95% CI 0.147-0.970), whereas women who had 3 or more sexual partners were more likely to develop CIN 2-3 (OR 3.181, 95% CI 1.316-7.687).
CONCLUSIONS
Women with ASC-US Pap smears who had 3 or more sexual partners, low education and low income were at an increased risk of CIN 2-3. Therefore, this group of patients deserve a high priority for immediate colposcopy in order for early detection of high-grade CIN.
Topics: Adult; Colposcopy; Female; Humans; Logistic Models; Middle Aged; Neoplasms, Squamous Cell; Papanicolaou Test; Patient Education as Topic; Risk Factors; Sexual Partners; Socioeconomic Factors; Uterine Cervical Neoplasms; Vaginal Smears; Young Adult; Uterine Cervical Dysplasia
PubMed: 21517264
DOI: No ID Found -
Acta Dermato-venereologica 2008Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia,... (Review)
Review
Schöpf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. The clinical spectrum and the most likely inheritance pattern(s) have not yet been completely defined. We report here on two, unrelated patients presenting with additional, previously unreported features, including hypoplastic nipples and optic atrophy. Both individuals were born to consanguineous parents, and one also has affected siblings. A literature review identified 23 additional cases. Multiple eyelid apocrine hidrocystomas, described in all of the cases, are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumours in 44% of affected subjects indicates that Schöpf-Schulz-Passarge is a genodermatosis with skin appendage neoplasms. However, the risk of skin and visceral malignancies is not increased. Pedigree study demonstrates that 9 of the 13 published familial cases may be explained by an autosomal recessive mutation, while the remaining pedigrees show apparent vertical transmission compatible with genetic heterogeneity. The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance.
Topics: Aged; Anodontia; Consanguinity; Ectodermal Dysplasia; Eyelid Neoplasms; Female; Hidrocystoma; Humans; Hypotrichosis; Keratoderma, Palmoplantar; Male; Nails, Malformed; Nipples; Optic Atrophy; Phenotype; Sweat Gland Neoplasms; Syndrome
PubMed: 19002348
DOI: 10.2340/00015555-0547 -
Infectious Diseases in Obstetrics and... 2002To evaluate the risk of vulvar vestibulitis syndrome (VVS) associated with genital infections in a case-control study.
OBJECTIVE
To evaluate the risk of vulvar vestibulitis syndrome (VVS) associated with genital infections in a case-control study.
METHODS
Diagnosed cases with VVS (n = 69) and age-frequency-matched healthy controls (n = 65) were enrolled from gynecology clinics in a university medical hospital during 1999. They were compared for potential risk factors and symptoms of disease.
RESULTS
VVS cases had a significantly higher risk of physician-reported bacterial vaginosis (BV) (odds ratio, OR = 9.4), Candida albicans (OR = 5.7), pelvic inflammatory disease (PID) (OR = 11.2), trichomoniasis (OR = 20.6), and vulvar dysplasia (OR = l5.7) but no risk associated with human papillomavirus (HPV), ASCUS, cervical dysplasia, genital warts, chlamydia, genital herpes or gonorrhea. Genital symptoms reported significantly more often with VVS included vulvar burning (91 vs. 12%), dyspareunia (81 vs. 15%), vulvar itching (68 vs. 23%) and dysuria (54 vs. 19%) (p < 0.0001).
CONCLUSION
A history of genital infections is associated with an increased risk of VVS. Long-term follow-up case-control studies are needed to elucidate etiologic mechanisms, methods for prevention and effective treatment.
Topics: Adult; Aged; Case-Control Studies; Female; Humans; Iowa; Middle Aged; Risk Factors; Sexually Transmitted Diseases; Surveys and Questionnaires; Vulvar Diseases
PubMed: 12648313
DOI: 10.1155/S1064744902000224 -
American Journal of Human Genetics May 2002Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and...
Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we provide compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene, GJB2. In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26. One of these mutations was detected in six unrelated sporadic case subjects and also segregated in one family with vertical transmission of KID. These results indicate the presence of a common, recurrent mutation and establish its autosomal dominant nature. Cx26 and the closely related Cx30 showed differential expression in epidermal, adnexal, and corneal epithelia but were not significantly altered in lesional skin. However, mutant Cx26 was incapable of inducing intercellular coupling in vitro, which indicates its functional impairment. Our data reveal striking genotype-phenotype correlations and demonstrate that dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID. Decreased host defense and increased carcinogenic potential in KID illustrate that gap junction communication plays not only a crucial role in epithelial homeostasis and differentiation but also in immune response and epidermal carcinogenesis.
Topics: Base Sequence; Connexin 26; Connexins; Cornea; Ectodermal Dysplasia; Epithelium; Female; Fluorescent Antibody Technique; HeLa Cells; Hearing Loss, Sensorineural; Heterozygote; Humans; Ichthyosis; Keratitis; Male; Mutation, Missense; Pedigree; Phenotype; Protein Transport; Skin; Syndrome
PubMed: 11912510
DOI: 10.1086/339986 -
Infectious Diseases in Obstetrics and... 2000Bacterial vaginosis is characterized by a shift from the predominant lactobacillus vaginal flora to an overgrowth of anaerobic bacteria. Bacterial vaginosis is... (Review)
Review
Bacterial vaginosis is characterized by a shift from the predominant lactobacillus vaginal flora to an overgrowth of anaerobic bacteria. Bacterial vaginosis is associated with an increased risk of gynecologic complications, including pelvic inflammatory disease, postoperative infection, cervicitis, human immunodeficiency virus (HIV), and possibly cervical intraepithelial neoplasia (CIN). The obstetrical risks associated with bacterial vaginosis include premature rupture of membranes, preterm labor and delivery, chorioamnionitis and postpartum endometritis. Despite the health risks associated with bacterial vaginosis and its high prevalence in women of childbearing age, bacterial vaginosis continues to be largely ignored by clinicians, particularly in asymptomatic women.
Topics: Endometritis; Female; Genital Diseases, Female; HIV Infections; Humans; Pelvic Inflammatory Disease; Postoperative Complications; Pregnancy; Pregnancy Complications; Risk Factors; Uterine Cervical Neoplasms; Uterine Cervicitis; Vaginosis, Bacterial; Uterine Cervical Dysplasia
PubMed: 10968604
DOI: 10.1155/S1064744900000260 -
Infectious Diseases in Obstetrics and... 1998Abnormal uterine bleeding is a common and troublesome problem in human immunodeficiency virus (HIV)-infected women. We sought to evaluate endometrial pathology among...
OBJECTIVE
Abnormal uterine bleeding is a common and troublesome problem in human immunodeficiency virus (HIV)-infected women. We sought to evaluate endometrial pathology among HIV-infected women requiring hysterectomy to explore if endometritis may be common among these patients.
METHODS
We performed a retrospective analysis of uterine pathology specimens obtained from HIV-infected and control patients requiring hysterectomy in two urban hospitals between 1988 and 1997 matched for age, surgical indication, and history of gonadotropin-releasing hormone (GnRH) use. Cases were evaluated for the presence of plasma cells and assigned a grade between 0 and 3.
RESULTS
Indications included cervical dysplasia (4), carcinoma in situ (2), abnormal uterine bleeding (3), and adnexal mass (3). Some degree of abnormal uterine bleeding occurred in all cases. Plasma cell endometritis was twice as common in HIV-infected women compared to HIV-negative specimens (11/11 versus 11/22) (P < 0.05). Plasma cell endometritis was also of a higher grade in specimens from HIV-infected women than in controls (P = 0.001).
CONCLUSION
Chronic endometritis was common and of a higher grade among HIV-infected women requiring hysterectomy in our series. Diagnosis and treatment of endometritis should be considered in HIV-infected women with uterine bleeding and/or tenderness. We speculate that antiretroviral and/or antimicrobial treatment for endometritis may effectively treat endometritis and eliminate the need for surgery in some HIV-infected women. We suggest that consideration and treatment of endometritis in HIV-1 infected women being evaluated for possible hysterectomy has the potential to reduce costs and morbidity for patients and providers who may be exposed during surgical procedures.
Topics: Adult; Endometritis; Female; HIV Infections; Humans; Hysterectomy; Plasma Cells; Retrospective Studies; Uterine Hemorrhage
PubMed: 9812252
DOI: 10.1002/(SICI)1098-0997(1998)6:4<186::AID-IDOG9>3.0.CO;2-M -
Annales de Dermatologie Et de... May 1998Epidermolysis bullosa acquisita may be associated to a systemic or malignant disease. Here, we report a case of epidermolysis bullosa acquisita associated with a...
INTRODUCTION
Epidermolysis bullosa acquisita may be associated to a systemic or malignant disease. Here, we report a case of epidermolysis bullosa acquisita associated with a carcinoma of the cervix.
CASE REPORT
A 44-year-old woman presented inflammatory, bullous and erosive mucocutaneous lesions. Investigations lead to the diagnosis of epidermolysis bullosa acquisita and revealed pelvic metastases originating from a poorly differentiated carcinoma. The cutaneous lesions completely regressed after the treatment of the tumor but reappeared with tumoral relapse.
DISCUSSION
This is the first report of an association of epidermolysis bullosa acquisita and carcinoma of the cervix. The clinical course of these two entities suggests that the EBA in this case may be paraneoplastic.
Topics: Adult; Epidermolysis Bullosa Acquisita; Female; Humans; Neoplasm Recurrence, Local; Paraneoplastic Syndromes; Pelvic Neoplasms; Uterine Cervical Neoplasms; Uterine Cervical Dysplasia
PubMed: 9747279
DOI: No ID Found -
Journal de Gynecologie, Obstetrique Et... 1997To demonstrate that women treated for PID constitute a population with a specially high incidence of cervical intraepithelial neoplasia (CIN) and who should be screened...
OBJECTIVE
To demonstrate that women treated for PID constitute a population with a specially high incidence of cervical intraepithelial neoplasia (CIN) and who should be screened for CIN.
POPULATIONS AND METHODS
Retrospective, non-comparative study of 260 patients treated for PID in the Gynecology-Obstetrics Department of Hôtel-Dieu hospital in Rennes (France) from December 1st, 1989 to May 31st, 1996. CIN screening was performed by smear tests and colposcopy.
RESULTS
Cervical lesions were detected in 39 patients (15%): five CIN 3 (including one early-stage microinvasion), twelve CIN 2 and 22 CIN 1 and/or condylomas, i.e., 6.5% high grade and 8.5% low grade lesions. Colposcopy in this case proved to be more effective than smears for screening.
DISCUSSION
According to epidemiological studies, sexual behavior is a major risk factor of CIN, due to the role played by sexually transmissible human papillomavirus in their pathogenesis. Because the main risk factor of PID is sexual activity, it is likely that CIN are more frequent in women with PID. Our study clearly established that fact because the prevalence of CIN in the general population is only 0.5 to 4% according to literature reports.
CONCLUSION
We are in favor of CIN screening in women treated for PID, and in our view colposcopy is the preferred method.
Topics: Adolescent; Adult; Colposcopy; Female; Humans; Incidence; Mass Screening; Pelvic Inflammatory Disease; Retrospective Studies; Risk Factors; Sexual Behavior; Uterine Cervical Neoplasms; Vaginal Smears; Uterine Cervical Dysplasia
PubMed: 9509320
DOI: No ID Found -
The Medical Journal of Malaysia Mar 1994Cervico-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...
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.
Topics: Adult; Aftercare; Female; Humans; Intrauterine Devices; Middle Aged; Retrospective Studies; Uterine Cervical Diseases; Vaginal Smears
PubMed: 8057995
DOI: No ID Found