Transvaginal laparoscopic donor nephrectomy.

Laparoscopic donor nephrectomy (LDN) has numerous advantages over open donor nephrectomy. The cosmetic issues and pain that arise due to the 5 to 6-cm incisions on the abdominal wall in LDN have led to transvaginal laparoscopic donor nephrectomy (TVLDN). Between May and August 2012, we performed seven donor nephrectomies via a transvaginal approach. The mean age of the donors was 53.0 ± 9.52 years. The mean operative time was 97.29 ± 39.47 minutes and mean warm ischemia time, 220.71 ± 55.49 seconds. Donors were mobilized, began oral intake at 8 hours postoperative, and were all discharged within the first 24 hours. Except one dose of analgesic applied immediately after the operation, no additional medication was required. No infectious complications were encountered in any recipient. TVLDN may be a good alternative for female donors. Compared with LDN, TVLDN has benefits of less postoperative pain, faster recovery, shorter hospital stay, and excellent cosmetic results.

Interdental distraction osteogenesis for the management of alveolar clefts: archwise distraction.

Bone grafting is a successful protocol for cleft repair but it is very challenging to close large gaps using local gingival tissue. In the last decade, interdental distraction osteogenesis has been introduced as a successful treatment protocol for repairing such large clefts. In this article a new method for closing the alveolar cleft is introduced and one case is presented. A tooth supported distractor which was specially designed to be inserted on to the main arch wire was used for the distraction. The aim was to distract the tooth segments through the curve of the dental arch and achieve complete closure of the gaps. The distractor introduced had several advantages: it is simple to apply, activate and remove; there is no need for a second operation; it is an outpatient procedure. In the case reported, a very large gap was successfully closed using this protocol whilst maintaining the ideal arch form and generating new bone behind the distracted segments.

A multidisciplinary approach to the management of individuals with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Renal vascular abnormalities in Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined. At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described as a sixth cardinal feature. Chronic renal failure occurs in 30%-60% of patients. Hypertension has been noted in 50%-66% of cases. Renal abnormalities reflect a defect in maturation of the kidneys. We present a patient with BBS who had bilateral microaneurysms and occlusions in renal arterioles.

Ultrastructure of the lens epithelium in Alport's syndrome.

The ultrastructure of the lens epithelium in Alport's syndrome was studied. In a transmission electron-microscopic examination, a large number of tonofilaments, swollen mitochondria, a dilated Golgi complex, a dilated rough endoplasmic reticulum with electron-dense (osmiophilic) material in some of these irregular structures and myelin figures were observed. Most of the cells had regularly shaped and only a few of them irregularly shaped nuclei. Additionally, polymorphism and marked degeneration in the transitional zone were observed in the scanning electron-microscopic examination of the lens epithelium. After the transitional zone, there were no epithelial cells present under the lens capsule, an observation that has never been reported in the literature.

Congenital Brown's syndrome: clinical and surgical approach.

Brown's syndrome is a well-recognized clinical disorder of ocular motility consisting mainly of a restriction of active and passive elevation in adduction. We report a series of 17 patients with true Brown's syndrome and discuss the clinical features and results of surgical intervention. Surgery should be considered carefully for the treatment of this syndrome as reoperation may be necessary and spontaneous resolution is seen during long-term follow-up of some patients.

Bronchial asthma in a patient with Usher syndrome: case report.

The Usher syndrome is a recessively inherited disorder characterized by the associated deficits of sensorineural hearing impairment and a progressive retinal degeneration called retinitis pigmentosa. A case of Usher syndrome is reported in a 22-year-old atopic patient with asthma. To our knowledge, such an association has not been described previously in the literature.

Punctate inner choroidopathy and its differential diagnosis.

The diagnosis of chorioretinal diseases largely depends on their clinical presentation rather than etiologic or systemic investigations. We report on a patient whose examination revealed a peculiar fundus pattern, almost completely different from disorders such as multifocal choroiditis, presumed ocular histoplasmosis, myopic degeneration, acute multifocal placoid pigment epitheliopathy, vitiliginous chorioretinitis, and punctate outer retinal toxoplasmosis. It resembled punctate inner choroidopathy, described by Watzke in 1984.