Twins with moyamoya disease

Moyamoya disease is a progressive disease which involves the internal carotid arteries and its branches bilaterally. The disease is reported both in adults and in children. Moyamoya disease is frequently seen in Japanese patients having certain human leucocyte antigen (HLA) haplotypes including HLA-Aw24, Bw46 and Bw54. Twin cases are rarely reported in the literature. We hereby present the first Turkish monozygotic twins with moyamoya disease whose HLA haplotypes are A2, A9, B21, Bw22, Bw4, Bw6, Cw3, and DR2, DR4, DRw52, DRw53, Dq7. The patients with advanced disease were given nifedipine and intravenous immunoglobulin (400mg/kg/d for 5 days). During the 11 months of follow-up, the patients were attack free.     

Prognostic value of oxygen saturation and heart rate during a six-minute walk test in pediatric pulmonary hypertension

Background/aimTo evaluate the pre and post-treatment heart rate and oxygen (O₂) saturation values measured before, during and after 6MWT in children who received PAH-specific treatment and to determine the effect of these variables on prognosis.Materials and methodsThis retrospective study included 29 patients who were diagnosed as PAH and treated. The transcutaneous O₂ saturationand heart rate levels were recorded before the test: baseline (Sat0, HR0), at the end of the test: exercise (Sat1_, HR1)and 5 min after the test: recovery (Sat2_, HR2). The increase in heart rate was defined as HR1-HR0 and the decrease in saturation as Sat0-Sat1. The results obtained before and after the PAH-specific treatment were analyzed and their effect on survival was assessed. Results Fifteen of 29 patients were female (51.7%). The mean age was 127.2 ± 44.8 months and the median follow-up time was 60 (12–156) months. Only pre-treatment HR1 was found associated with survival. The mean HR1 value of survivors was 122.8 ± 18.4 and that of deceased 94.3 ± 19.1 (p = 0.03). Post-treatment 6MWT was associated with survival. It was 453.3 ± 96.5 m for survivors and 250 ± 135.2 m for deceased (p = 0.02).Conclusion Post-treatment 6MWT, FC and proBNP had prognostic value in pediatric patients with PAH. The decrease in saturation and increase in heart rate were not found to have a prognostic value. Pre-treatment HR1was associated with survival. Identification of these prognostic factors at the beginning and throughout the treatment may be a guide for detecting the severity of the disease and follow-up.     

Urinary tract involvement in a child with epidermolysis bullosa simplex

Epidermolysis bullosa is a rare disorder which may present various systemic involvement. We present a 15-month-old boy with epidermolysis bullosa simplex who was admitted with symptoms of hematuria and dysuria and discuss the pathology from a urological standpoint.     

Intrarenal arterial stenosis in a patient with thromboangiitis obliterans

Thromboangiitis obliterans (TAO) or Buerger's disease is a clinical syndrome characterized by the development of segmental thrombotic occlusions of the medium and small arteries of the extremities. Exception of the peripheral arteries of the extremities in TAO is very rare. Reported herein is the first case of intrarenal branch involvement of the renal artery due to TAO.     

Enlarged spectrum of seminological diagnoses using the resazurin colour reaction; a spectrophotometric application

Two sets of investigations were carried out in the present study to establish whether, in semen samples processed for the resazurin reaction (RT), the colour change and its intensity were informative for both the quality and quantity of spermatozoa. First, the results of RT were read visually using single semen samples from 42 consecutive men from infertile couples. In the second step, the results were additionally read using a spectrophotometer. Single semen samples obtained from another 87 consecutive men from infertile couples and 12 men from fertile couples were analysed in this step. Visual analysis, which involved grading against an RT colour chart, revealed a significant positive correlation between the RT results and the quantity and quality of spermatozoa. Azoospermia was diagnosed by grade number 1(dark purple colour), while the highest grades 8–11 (colours dark red to pink) represented a homogeneous group of patients with the highest quality of spermatozoa (>60% motility) and quantity (>60 × 10⁶/ml ejaculate). Normal parameters of spermatozoa, according to WHO, appeared with a high predominance (89–100% of cases) in this group and were present in most of the samples. Thus, the grades 8–11 might represent semen samples with optimal fertility potential. Spectrophotometric analysis of RT revealed that visual characteristics corresponded closely to the values for optical density (OD) of the samples. The OD for normozoospermic samples ranged between 1.48 and 1.84; for oligozoospermia between 1.2 and 1.48; for azoospermia between 0.98 and 1.1. The OD for samples with putative optimal fertility potential ranged between 1.6 and 1.84. RT evaluation using a spectrophotometer may therefore provide a tool for obtaining a wider spectrum of seminological diagnoses than classic microscopic examination, especially for distinguishing men with probable optimal fertility potential.     

Posterior bridges retained by resin-bonded cast metal inlay retainers: a report of 60 cases followed for 6 years

summary Between May 1989 and July 1994, 60 adhesive fixed partial posterior dentures retained by resin-bonded cast metal inlays were placed under controlled conditions. The influence of various prognostic factors on the event free and overall service duration was investigated with univariate and multivariate analysis. The majority of the failures (16 of 18) were caused by loss of adhesion at the metal cement interface and were observed either as debonding of the restorations completely or dislodgement of a single retainer. The other two failures appeared as secondary caries. Univariate analysis demonstrated that, retainer type, approximal configuration and dentine exposition had no effect on the event free service duration. On the other hand, gingival finishing level and luting agent were found to have an effect. Univariate testing was also conducted for the overall service duration and none of the variables were found to have an effect, Multivariate Cox Regression Analysis was performed to estimate the influence of categorical covariates: type of retainer, approximal preparation modification, gingival finishing level, preparation depth and luting agent on survival rates of event free and overall service duration. Luting agent was found to be the single independent prognostic variate ( P < 0·0001) for the event free service duration and the other covariates were rejected. For overall service duration, none of the variables were found to be effective.     

Localized crossed hyperhidrosis and the coexistence of thyroid gland disease

Hyperhidrosis is the most common type of sweat gland disorder. It may be localized or generalized. The localized type usually occurs in a symmetrical fashion over the palms, soles and armpits as a response to emotional stimuli. Another form of the localized type is idiopathic localized unilateral hyperhidrosis which is very rare and the etiopathogenesis remains unclear. Here, we report a female patient who had localized crossed hyperhidrotic areas on her body (on the left side of the scalp, face and the shoulder and on the right side of the trunk) and also had thyroid gland disease. We herein discuss this extremely rare presentation of the disease and its association with thyroid gland disease.     

Accessory scrotum attached to a perineal lipoma in an adult male

Accessory scrotum is a condition in which a scrotum is located in the perineal region, in addition to the presence of normally located primary scrotum, testes and penis. The condition is extremely rare and the majority of reported cases have been diagnosed in infants. Herein, we present a case of accessory scrotum attached to a perineal lipoma in a 40-year-old man. The perineal mass was present at birth and grew very slowly over the years. There were no other congenital abnormalities or problems related to this anomaly. The case was easily managed by complete excision of the accessory scrotum and perineal lipoma. Gross and microscopic examination of the surgical specimen revealed an accessory scrotum attached to an encapsulated perineal lipoma. The present case demonstrates an adult prognosis of a patient born with this type of abnormality. To our knowledge, it is the first case of its kind to be reported in the literature.