A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).

A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The ambiguous genitalia was the result of the special gonosomal mosaicism. The low level of trisomy 14 led to minor physical characteristics and mild mental retardation; also, Turner syndrome features can be expected rather than severe trisomy 14 stigmata.

Serological markers in inflammatory bowel disease: a review of their clinical utility.

BACKGROUND: Several antibodies, also called serological markers, are associated with specific forms, disease behavior and phenotype of inflammatory bowel disease (IBD). AIM: Summarize and analyze the evidence of the utility of serologic markers in IBD, making emphasis on their clinical utility and behavior between populations. MATERIAL AND METHODS: Relevant articles were located by computer-assisted search of PubMed (since January 1979 until December 2008). RESULTS: Anti-Saccharomyces cerevisiae antibodies (ASCA) and perinuclear Anti-neutrophil Cytoplasmic Antibodies (pANCA) are the best studied serological markers. Assessing both ASCA and pANCA allows a better differentiation of Crohn's disease (CD) from ulcerative colitis (UC) than by using the individual tests alone. The ASCA+/pANCA- phenotype is characteristic of CD, while the ASCA-/pANCA+ phenotype is found in UC. The interest on atypical ANCA is growing as it may be a useful tool to distinguish between different IBD forms. Newer markers derived from various microbial species of the gut and glycan markers are of interest as they offer new ways to stratify patients into serologic subgroups. These serological markers may act as prognostic indicators of the severity and behavior of IBD, but more studies are necessary to determine their utility. CONCLUSIONS: There is emerging evidence that combining serological markers may increase the accuracy of diagnosis of a specific form of IBD or its behavior, but the perfect assay or combination of antibodies has not been discovered. They have several limitations, therefore clinicians must be aware of the evidence on serological markers, interpret them with caution and always correlate with the clinical picture.

Scheie's line as a first sign of pigment dispersion syndrome. / Línea de Scheie como primer signo de síndrome de dispersión pigmentaria.

A 50 year old woman was diagnosed with pigment dispersion syndrome (PDS) in the right eye and pigmentary glaucoma in the left eye in a routine medical examination. A line of pigment was observed in the vitreo-lenticular interface (Scheie's line) of the left eye and with an intraocular pressure of 26mmHg. The Scheie's line (SL) develops by the accumulation of detached iris pigment in PDS and accumulated in the ligament of Wieger that forms the vitreo-lenticular union. The SL is considered a pathognomonic sign of PDS.

Visual snow in a paediatric patient. / Nieve visual en un paciente pediátrico.

CASE REPORT: The case is presented of an 11 year-old girl referring to a one year history of photophobia and continuously seeing white spots in both eyes. The patient had a visual acuity of unity in both eyes, and a normal eye examination, and was referred to the Neuro-ophthalmology Unit. Once complete laboratory and imaging tests ruled out the possibility of any neurological pathology, she was diagnosed with visual snow (VS). DISCUSSION: VS is an isolated symptom, possibly part of the migraine aura, that is referred by patients reporting numerous and constant white dots moving in the visual field of BE. It can significantly interfere with patient's daily activities by altering their quality of life, and ending up as a misdiagnosis. Paediatric patients also present a diagnostic challenge due to the complex interpretation that the presence of VS involves in them.

[Lower lip burn due to a fire during a blepharoplasty procedure]. / Quemadura labial por combustión durante la realización de una blefaroplastia.

CASE REPORT: A 63-year-old woman underwent bilateral blepharoplasty under local anesthesia and sedation. During surgery a fire started due to an electrocautery spark. The fire resulted in cosmetic sequelae. DISCUSSION: The factors causing a fire in the operating room are discussed and suggestions made for prevention of this complication.

[Hypertension secondary to treatment with latanoprost]. / Hipertensión arterial secundaria a tratamiento con latanoprost.

CASE REPORT: An 80 year old woman operated on by trabeculectomy for primary open-angle glaucoma due to increased pressure, who started treatment with latanoprost. Monitoring of blood pressure (BP) showed a statistically significant increase in both systolic and diastolic BP, coinciding with the use of topical hypotensive, which resolved by voluntarily suspending treatment, thus increasing again to reintroduce the prostaglandin. DISCUSSION: Prostaglandin analogs reduce intraocular pressure to produce vasodilation of the episcleral and ciliary arteries, increasing the outflow of aqueous humor. Cardiovascular effects are rare, but have been described by the vasoconstrictor effect that can trigger the reversible increase in BP, as in this case.

[Non-organic visual loss. A series of 5 cases]. / Pérdida visual no orgánica. Serie de 5 casos.

Non-organic visual loss is the presence of ocular symptoms without an organic base that justifies it, and can occur in up to 5% of the children attending Ophthalmology Outpatients. A suspicion and the management of this situation are essential for a proper diagnosis, not only to avoid unnecessary referrals to other specialties, but also to avoid health spending, in addition to reducing parental distress by the possible presence of eye disease in their children.

[Pulmonary tuberculosis in the outpatients clinics of the Social Security in Biscay (author's transl)]. / La tuberculosis pulmonar en la práctica ambulatoria de la Seguridad Social en Vizcaya.

The authors review the problem of active pulmonary tuberculosis in the clinics of the Social Security in Biscay. The high number of cases offers a wide panorama and the possibility of arriving at general conclusions within the Biscayan demographic structure. It is rather disturbing to discover an average of 24.37 cases per 100,000 inhabitants per year in this partial study of the situacion. The indexes for 1967 and 1974 were practically the same. Although the disease occurs with greatest frequency in persons between 30 and 60 years of age, there is a marked tendency for it to appear at increasingly lower ages. The disease is much more common in men than in women, and immigrates seem to be more susceptible than the native population. Pulmonary tuberculosis was reported as the cause of 1.12 percent of the 61,341 deaths registered in Biscay during the 8-year period under study (1967-1974). In view of this situation the authors insist on the urgent need for strategic methods to erradicate this serious menace to public health. They consider the role of tuberculosis sanatoriums in the state to be of outmost importance.

[Paralytic ectropion correction with porous polyethylene spacer by subciliar external approach]. / Corrección del ectropión paralítico con implante de espaciador de polietileno poroso por abordaje externo subciliar.

PURPOSE: To evaluate the efficacy of porous polyethylene spacer in paralytic ectropion. METHODS: Nine eyes of 8 patients (5 male and 3 female, medium age 55.6 S.D. 11.2 years) with paralytic ectropion were operated. All of them presented a scleral show of more than 3 mm, exposure queratopathy and epiphora grade III-IV in Munk scale. A tarsal strip procedure, internal cathoplasty and porous polyethylene spacer sutured to the inferior border of the tarsal plate and over the palpebral retractors by subciliar external approach were performed. RESULTS: The mean followup time was 9.8 S.D. 4.3 months. The scleral show, exposure queratopathy and epiphora improved in all patients. There were two extrusions of the synthetic material, with removal of the implant in one of them. In these two cases a long lasting facial palsy with miocutaneous atrophy was the cause of the ectropion. CONCLUSIONS: Porous polyethylene speacer is a good alternative for paralytic ectropion treatment. This technique decreases the risk of infectious disease transmission as in homologous grafts and the need of a second surgical procedure as in autologous grafts.

[Ophthalmological findings in nasopharingeal carcinoma]. / Manifestaciones oftalmológicas del carcinoma nasofaríngeo.

PURPOSE/MATERIAL AND METHOD: To report a clinical case of a 64 year-old man with orbital involvement from a nasopharyngeal carcinoma. Relevant clinical and imaging (CT and MNR) data are reviewed. CLINICAL CASE/CONCLUSION: Nasopharyngeal carcinoma is an unusual tumor (0.25% of all malignant tumors), being most common the hystologically undifferentiated subtype. The orbit may become affected from expansion of this type of neoplasm. Frequence of tumor's ophthalmologic manifestations and different therapeutic approaches are discussed. Findings associated to periorbital disease should be recognized by the ophthalmologist as to establish an early clinical diagnosis.

[Interferon alfa-2b treatment in selected cases of recurrent conjunctival intraepithelial neoplasia]. / Empleo de interferón alfa-2b para el tratamiento de carcinomas conjuntivales intraepiteliales en casos seleccionados.

PURPOSE: To study the efficacy of topical and combined topical and subconjunctival interferon alfa 2b (IFN alfa 2b) in the treatment of recurrent conjunctival intraepithelial neoplasia (CIN) in those patients who present resistance or intolerance to topical mitomycin C (MMC) treatment or when it is not indicated. METHODS: Four patients (age range from 52 to 70) with histological confirmation of recurrent CIN were studied prospectively. Two patients were resistant to topical MMC, another one did not tolerate it, and in the last case, this treatment was not indicated due to a stem cell insufficiency associated to a trophic corneal ulcer. Three patients were given just topical interferon (1 million IU/ ml four times a day for three months), while the last one received topical therapy and subconjunctival IFN alfa 2b injections (3 millions IU/ 0.5 ml). RESULTS: Complete regression of the tumour was evident in all cases. sixteen to 24 months after treatment no patient had clinical evidence of recurrence. No side effects were observed in any patient, not even with subconjunctival administration. CONCLUSIONS: IFN alfa 2b is effective as an alternative treatment to topical MMC in selected cases of recurrent CIN.

[Mycotic dacryocystitis related to naso-lacrimal stent. Case report]. / Dacriocistitis micótica asociada a prótesis naso-lagrimal. Caso clínico.

CASE REPORT: A nasolacrimal stent was placed in a diabetic woman with a ten-year history of epiphora. Three months later the non-functional stent was removed and taken for histological study. A presumed diagnosis of fungical dacryocystitis was then established. An external dacryocystorhinostomy was performed and the obtained cultures confirmed Candida albicans as the infective agent. DISCUSSION: Only 1.2% of all dacryocystitis are due to fungal agents. This possibility must be considered when evaluating a routine chronic dacryocystitis. Cultures should be obtained when removing a nasolacrimal stent in order to rule out different causes of nasolacrymal obstruction.

[Oncocytoma of the caruncle. Case report]. / Oncocitoma de la carúncula. Caso clínico.

CASE REPORT: A 63 year-old man with a six month history of a red-orange lesion located in the caruncle of his right eye is presented. Surgical excision was then performed, and the histological diagnosis of oncocytoma was established. DISCUSSION: The oncocytoma is an uncommon, relatively benign tumor, composed of transformed epithelial cells of the ducts. The histogenetic characteristics and prognosis are briefly discussed.

Environmental hazards of pesticides from pineapple crop production in the Río Jiménez watershed (Caribbean Coast, Costa Rica).

This study aimed to characterize environmental hazards of pesticides from pineapple production in riparian communities along the Jiménez River watershed. To achieve our objectives riparian ecological quality indices on riparian habitat and macroinvertebrate assemblages were combined with toxicity assays, fish biomarkers, physico-chemical water analysis and pesticide environmental hazards. During two consecutive years and two periods (July and October), three reference and four impacted sites were monitored. The ecological quality of benthic macroinvertebrates and of riparian habitats deteriorated from the reference sites downstream to the polluted reaches along the Jiménez River area affected by pineapple plantations. The toxicity of water to Daphnia magna also increased towards downstream reaches. Biomarkers of fish of the species Poecilia gillii and Bryconamericus scleroparius transplanted across the studied sites evidenced a clear anticholinergic effect towards downstream sites as well as increased levels of lipid peroxidation. Different pesticide residues were frequently detected in water samples collected across the Jiménez River watershed with herbicides (ametryn, bromacil, diuron), organophosphorus insecticides (diazinon and ethoprophos) and triazole fungicides being the greatest reaching levels above 1 µg L(-1) in downstream sites. Principal component and environmental hazard analysis of physico-chemical and biological responses established clear relationships among habitat deterioration and the ecological quality of macroinvertebrate communities, high levels of herbicides and poor plant growth, high levels of organophosphorus insecticides in water and anticholinesterase effects on fish, D. magna mortality and deterioration of macroinvertebrate communities. Fungicide and herbicide residue levels were also related with high levels of lipid peroxidation and high activities of glutathione S transferase in fish liver, respectively. These results indicated, thus, that riparian habitat deterioration due to deforestation and land use for agriculture and pesticide contamination are affecting river ecosystems.

Pérdida visual no orgánica. Serie de 5 casos / Non-organic visual loss. A series of 5 cases

La pérdida visual no orgánica es la presencia de sintomatología ocular sin una base orgánica que la justifique y que puede presentarse hasta en el 5% de los ni˜nos que acuden a la consulta de oftalmología ambulatoria. La sospecha y el manejo de esta situación son fundamentales para un diagnóstico adecuado, evitando no solo derivaciones innecesarias a otras especialidades, sino para evitar también el gasto sanitario, además de disminuir la angustia paterna por la posible presencia de enfermedad ocular en sus hijos

Non-organic visual loss is the presence of ocular symptoms without an organic base that justifies it, and can occur in up to 5% of the children attending Ophthalmology Outpatients. A suspicion and the management of this situation are essential for a proper diagnosis, not only to avoid unnecessary referrals to other specialties, but also to avoid health spending, in addition to reducing parental distress by the possible presence of eye disease in their children