Three cases of Klinefelter's syndrome with unilateral absence of vas deferens.

Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelter's syndrome. Here, we report three cases of Klinefelter's syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergonadotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected. To our knowledge, this is the first case series of both conditions existing simultaneously.

Normative size evaluation of internal auditory canal with magnetic resonance imaging: review of 3786 patients.

BACKGROUND: A narrow internal auditory canal (IAC) is significantly associated with congenital sensorineural hearing loss. It would therefore seem likely that any patient with an IAC measured radiographically to be under the normal range represents an abnormality and probable IAC stenosis. If narrow IAC is diagnosed with routine magnetic resonance imaging (MRI), then the cochlear nerve may be evaluated with special MRI studies. However, there is no consensus in the literature on the normal measurements of the IAC or on what parameters should be used to determine narrow IAC using MRI. In this study, we aimed to assess the normative size of IAC in normal-hearing ears and to determine whether canal size varies with age and gender using MRI. MATERIAL AND METHODS: A retrospective review was undertaken from 2010 to 2012. A total of 7572 normal-hearing ears of 3786 patients were assessed, who had MRI due to various reasons except hearing loss. Patients under 20 years old and over 60 years old were excluded, and the subjects were divided into 4 groups at 10-year intervals. All subjects were divided by gender also. Anteroposterior (AP) and craniocaudal (CC) measurements were obtained in the middle of the IAC on axial and coronal images of 1.5-T MRI. RESULTS: The mean age was 42 years (range 20-60 years). The mean IAC diameters were 5.93 mm with a standard deviation of 0.25 mm (max 6.99 mm, min 4.73 mm) on AP measurements and were 5.70 mm with a standard deviation of 0.26 mm (max 6.82 mm, min 4.71 mm) on CC measurements. There were no differences in the IAC diameters between males and females or with age groups. CONCLUSIONS: These measurements should provide a normative reference for comparison in radiographic assessment of any patient with suspected IAC stenosis. This measurement can help the diagnosis of narrow IAC. To our knowledge, this is the first study using MRI with a large group of patients in the literature.

Evidence for an association between type 1 diabetes and premature carotid atherosclerosis in childhood.

Acute phase proteins have been suggested to be increased in patients with type 1 diabetes. The aim of this study was to evaluate the relationship between serum C-reactive protein (CRP) and intima-media thickness (IMT) and functions of the common carotid artery (CCA) in children and adolescents with type 1 diabetes. Serum CRP levels were measured in 65 children and adolescents with diabetes (33 girls and 32 boys; mean age, 12.7 +/- 3.8 years; range, 7-18; duration of diabetes, 6.9 +/- 3.6 years). Age and diabetes duration, as well as major cardiovascular risk factors including anthropometric and metabolic parameters, were matched between girls and boys. The relations of serum CRP levels to CCA structure and functions were measured by ultrasonography as IMT, cross-sectional compliance, cross-sectional distensibility, diastolic wall stress (DWS), and incremental elastic modulus (IEM). There was no significant difference for serum CRP levels between girls and boys (3.7 +/- 1.3 vs 3.2 +/- 0.4 mg/L; p > 0.05). CRP was positively correlated with IMT (r = 0.49, p = 0.001), IEM (r = 0.24, p = 0.05), DWS (r = 0.58, p < 0.001), and body mass index (BMI) (r = 0.28, p = 0.05). In a multivariate regression model, we included CRP and metabolic and anthropometric parameters such as duration of diabetes, HbA1c, BMI, waist:hip ratio, age, and systolic and diastolic blood pressure as independent variables in the model for CCA structure and functions. CRP emerged as an independent correlation for mean IMT (beta = 0.51, p < 0.001) and DWS (beta = 0.61, p < 0.001). According to our findings, CRP was associated with CCA structure and functions in children and adolescents with type 1 diabetes.

Meningitis and Pneumocephalus. A rare complication of external dacryocystorhinostomy.

Meningitis due to fracture of the fovea ethmoidalis during external dacryocystorhinostomy is a rare complication. We report a case of pneumocephalus and meningitis in a 51-year-old female who underwent an external dacryocystorhinostomy (DCR). Although extracranial complications during or after external DCR have been well-described, only one case of meningitis has been reported in the literature. Physical examination, computerised tomography, lumbar puncture, and bacteriologic cultures were used to make the diagnosis. The patient responded well to antibiotic therapy. Her symptoms resolved immediately and she was discharged on the 21st post-operative day. This complication emphasises the importance of careful surgical technique and a thorough knowledge of regional anatomy, during DCR and similar procedures.

The one-month effects of topical betaxolol, dorzolamide and apraclonidine on ocular blood flow velocities in patients with newly diagnosed primary open-angle glaucoma.

PURPOSE: This double-masked, prospective and randomized clinical trial was planned to investigate with color Doppler imaging the 1-month vascular effects of betaxolol, dorzolamide and apraclonidine treatment on patients with newly diagnosed primary open-angle glaucoma (POAG). METHODS: 22 consecutive patients with newly diagnosed POAG between the ages of 46 and 72 years were enrolled in this study. All patients were newly diagnosed cases and had not received any antiglaucoma medication before. Patients who had a systemic vascular disease (including systemic hypertension) or were taking beta-blockers, nitrates or calcium channel blockers were excluded from the study. The patients were randomly divided into three groups. Groups A and B contained 7 patients, group C contained 8 patients. Group A patients were treated with topical betaxolol, group B patients received topical dorzolamide eye drops, and group C patients were treated with topical apraclonidine eye drops. Peak systolic velocities (PSV), end-diastolic velocities (EDV) and resistive indices (RI) in the right ophthalmic arteries (OA), central retinal arteries (CRA) and posterior ciliary arteries (PCA) were measured at baseline by using color Doppler imaging on a masked basis. On days 15 and 30 of treatment, the same measurements were repeated. The inter- and intragroup results were compared statistically. RESULTS: Compared to pretreatment measurements, topical betaxolol therapy significantly decreased PSV only in the PCA and only on day 30 of treatment (p = 0.011). On days 15 and 30, dorzolamide decreased RI measurements in the PCA compared to pretreatment measurement (p = 0.013 and p = 0.011, respectively). Apraclonidine also decreased PSV in the OA on days 15 and 30 of treatment when compared to pretreatment values (p = 0.013 and p = 0.012, respectively). When 15-day measurements were compared between the groups, PSV in the OA were significantly higher in dorzolamide-treated patients compared to other groups (p = 0.01 and p = 0.011). On day 30 of treatment, PSV in the OA was also higher in the dorzolamide-treated group than the other groups (p = 0.012 and p = 0.01). Additionally, apraclonidine-treated patients had a significantly lower EDV in the OA than the other groups (p = 0.013 and p = 0.01). The RI in the OA was also significantly lower in the apraclonidine-treated group compared to the other groups (p = 0.01 and p = 0.011). CONCLUSION: Our study suggests that dorzolamide has the most advantageous 1-month effects on blood flow velocity in the retrobulbar arterial circulation of POAG patients. Betaxolol seems superior to apraclonidine in this regard. Our data may help the clinician when treating patients with POAG medically. Further studies using a larger population size may clarify our results.

The importance of plasma polymorphonuclear (PMN) elastase determination in patients with uveitis.

PURPOSE: Polymorphonuclear elastase is used as an important marker for inflammatory disease. We wanted to show whether polymorphonuclear elastase could be a marker in uveitis. METHODS: Twenty-two patients with uveitis and 30 healthy control subjects were included in the study. Polymorphonuclear elastase levels were determined by immunoactivation method before and after periods of corticosteroid and/or cyclosporin treatments. RESULTS: The levels were high in all of the patients before treatment; the levels reached normal range with treatment. In some cases, however, uveitis could not be suppressed in spite of treatment; these patients had high polymorphonuclear elastase levels. CONCLUSION: It was concluded that determination of polymorphonuclear elastase level may be used for monitoring of uveitis.