Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis) / É sempre blefarite? Síndrome de Urbach-Wiethe (proteinose lipóide)

ABSTRACT A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome.

RESUMO Uma menina de 12 anos apresentava restos crostosos e caspa recorrente na base de ambos os cílios, apesar de ter completado diferentes tratamentos médicos. Ela tinha uma voz rouca desde a infância. No exame do segmento anterior dos olhos, encontramos pápulas amarelo-esbranquiçadas nas margens das pálpebras. Um otorrinolaringologista detectou múltiplos nódulos nas cordas vocais e na mucosa bucal. A ultrassonografia revelou cálculos salivares nos principais ductos parotídeos. Um exame dermatológico revelou lesões cutâneas espessas nos cotovelos e joelhos com uma biópsia mostrando os achados histopatológicos de proteinose lipoide. Diagnosticamos os pacientes da síndrome de Urbach-Wiethe ou proteinose lipoide, um distúrbio multissistêmico autossômico recessivo raro, com manifestações variáveis, que dificultam o diagnóstico. Manifestações oculares não são bem conhecidas entre oftalmologistas, mas as lesões típicas da pálpebra são patognomônicas e os oftalmologistas devem estar atentos a essa apresentação para identificar pacientes com síndrome de Urbach-Wiethe.

Is Hyperbaric Oxygen Therapy Effective in Cisplatin-Induced Ototoxicity in Rats?

OBJECTIVES: Cisplatin is an antineoplastic agent, used in the treatment of different types of malignant neoplasms. Side effects such as ototoxicity, nephrotoxicity, and bone marrow toxicity are the main limitations of its clinical use. The aim of the present study was to evaluate the possible effects of hyperbaric oxygen (HBO) therapy as a protective agent in cisplatin-induced ototoxicity in rats. METHODS: A total of 30 adult Wistar rats (60 ears) were divided into five equal groups. Group 1 is a control group; group 2 is HBO therapy group; group 3 received 15 mg/kg cisplatin intraperitoneally; group 4 received 15 mg/kg cisplatin intraperitoneally and HBO treatment on the same day; group 5 received 15 mg/kg cisplatin intraperitoneally and HBO treatment 72 hours later. The effect of ototoxicity was measured with distortion product otoacoustic emission testing performed on the days 1, 3, and 7. RESULTS: Groups 4 and 5 that received HBO treatment after cisplatin had better signal-to-noise ratio (SNR) values compared with group 3 that received only cisplatin (P < 0.05). Compared with group 5, group 4 (same day HBO treatment) had better SNR values (P < 0.05). CONCLUSION: HBO was found effective for prevention of cisplatin-induced ototoxicity in rats. Our study differs from other studies regarding using a promising treatment, which does not expose subjects to extra stress.

Investigation of apelin expression in endometriosis

Apelin is a mitogenic peptide; it has functions in vessel formation and cell proliferation. In this study we aimed to evaluate the serum and tissue levels and local expression pattern of apelin in eutopic and ectopic endometrium from patients with and without endometriosis and to compare the proliferative and secretory phase differences. Thirty women with endometriosis and 15 women without endometriosis undergoing surgery for benign indications as control group were included in the study. Serum and tissue concentrations and proliferative and secretory phase expression patterns of apelin were evaluated in the ectopic and eutopic endometrium using immunoassay and immunohistochemistry methods. The results were compared with Mann-Whitney U test. The p-values smaller than 0.05 were considered as statistically significant. Apelin expression was detected in eutopic and ectopic endometrium of women with endometriosis and endometrium of control group. Intense immunoreactivity of apelin was observed in glandular cells of eutopic and ectopic endometrial tissues of women with endometriosis and endometrium of control group during secretory phase [p<0.01]. In both groups, tissue concentrations of apelin were higher than of the serum [p=0.03] but, there were no significant differences between the two groups for tissue and serum concentrations of apelin. Apelin expression showed cyclic changes in eutopic and ectopic endometrium. Its expression may be related to menstrual changes of angiogenesis in endometrium of women

Recurrent Retroperitoneal Cystic Lymphangioma

Retroperitoneal cystic lymphangioma is a rare congenital malformation. The majority of lymphangiomas are present at birth and nearly all present before the age of two years. We report a case of giant cystic retroperitoneal lymphangioma in a patient who first presented with symptoms at the age of 7, underwent surgery, and who then suffered a recurrent mass 11 years later.

Investigation of Epstein-Barr virus DNA in formalin-fixed and paraffin-embedded breast cancer tissues

To investigate etiological role of Epstein-Barr virus [EBV] DNA in breast cancer. Materials and The presence of EBV DNA in 57 breast cancertissues was investigated with a sensitive PCR assay. The breast cancer tissues were from invasive ductular [n = 28], lobular [n = 20] and other miscellaneous carcinomas [n = 9]. Tissues from normal breasts and patients with various benign breast diseases [n = 55]: fibrocystic disease [n = 34], fibroadenoma [n= 16], hyperplasia, and granulomatous mastitis [n = 5], were used as control samples, flesults: EBV DNA was detected in 13 [23%] cancerous tissues [7 ductular, 4 lobular, 2 other carcinoma] and 19 [35%] in the control tissues. The difference between EBV presence in malignant and benign tissues was not statistically significant [p>0.05]. The presence of EBV DNA was detected almost equally in both breast cancer and normal tissues, which indicates no etiological role for EBV in breast cancer. We suggest further etiological studies

Meningocele with Cervical Dermoid Sinus Tract Presenting with Congenital Mirror Movement and Recurrent Meningitis

Dermoid sinuses and meningoceles are seldom encountered in the cervical region. Besides, to the best of our knowledge, the coexistence of these types of congenital abnormalities with recurrent meningitis, as well as with mirror movement, has never been reported before. A 14-year-old female with the diagnosis of recurrent meningitis was referred to our clinic from the Department of Infectious Diseases. She had a cervical meningocele mass that was leaking cerebro-spinal fluid (CSF) and an associated mirror movement symptom. Spina bifida, dermoid sinus and meningocele lesions were demonstrated at the C2 level on computed tomography (CT) and magnetic resonance imaging (MRI). She underwent an operation to remove the sinus tract together with the sac, and at the same time the tethered cord between the sac base and the distal end of the spinal cord was detached. The diagnosis of dermoid sinus and meningocele was confirmed histopathologically. These kinds of congenital pathologies in the cervical region may also predispose the patient to other diseases or symptoms. Herein, a case of meningocele associated with cervical dermoid sinus tract which presented with recurrent meningitis and a rare manifestation of mirror movement is discussed. Neurosurgeons should consider the possible coexistence of mirror movement and recurrent meningitis in the treatment of these types of congenital abnormalities.