Prenatal sonographic findings in a case of Varadi-Papp syndrome

OBJECTIVES: We aim to describe a case with oral-facial-digital syndrome type VI (OFDS VI) or Varadi-Papp syndrome where the only prenatal findings were cleft lip and palate and a primum type atrial septal defect (ASD). METHODS: A 24-year-old pregnant woman, gravida 1 para 0, attended the prenatal clinic for a routine visit at 16 weeks of gestation. Her medical and family history was unremarkable. There was no history of consanguinity, drug or teratogen exposure. Her triple screening test and other routine biochemical and haematological blood tests did not reveal any abnormal results. During routine prenatal sonographic examination at the 16th gestational week, cleft lip and palate including secondary palate on the right side of the face was detected and ASD was suspected. RESULTS: After delivery, prenatally diagnosed cleft lip and palate and primum ASD were confirmed. Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also observed. Radiological examination showed partial agenesis of the corpus callosum and partially duplicated terminal phalanx of the index fingers. A diagnosis of Varadi-Papp syndrome was formulated. At one year of age, there was short stature and delayed mental and motor development. CONCLUSION: Understanding the limitations of prenatal ultrasound is very important for the genetic counselling of prospective parents, since major ultrasound findings can be associated with other minor or undetectable features.     

Recurrent extraperitoneal low grade leiomyosarcoma with unusual localization

Primary extragenital leiomyosarcoma is rarely found in pelvic localization. A 33-year-old multiparous woman who had recurrent low-grade leiomyosarcoma presented with the complaints of dyspareunia, pelvic pain and gait disturbance. Her past medical history revealed she had been subjected to maximal excision of a paravaginal mass by using vaginal and suprapubic transverse incision three years before. The pathology report showed that she had leiomyoma. Three years after the initial surgery, a paravaginal fixed mass was observed at the initial tumor bed and removed by the perineal approach. The histological examination of the specimen revealed a low grade leiomyosarcoma. She was discharged from hospital without any complications.     

Three new cases of disorganizationlike syndrome: one with accessory extrophia vesicalis

The authors report 3 unrelated Turkish cases of disorganizationlike syndrome. All of these patients have accessory limbs, and 2 of them have accessory genitourinary structures. Interestingly, one of these patients has extrophia vesicalis of accessory bladder. None of them have chromosomal abnormality. Here the authors present distribution of findings of these cases.     

Ileal orthotopic neobladder in women: The first experiences from Turkey and our modifications

The lower urinary tract reconstruction with an ileal neobladder in woman is not very often but has been recently introduced centers. We report 8 female patients with ileal orthotopic neobladders after cystectomy. Patients and methods: Between 1995 to 1999, 7 female patients with organ confined invasive bladder cancer and 1 female patient with severely contracted bladder secondary to tuberculosis were operated. While standard radical cystectomy was done in 7 patients with bladder cancer, only simple cystectomy was performed in patient with contracted bladder. Detubularized ileal W-neobladder with antirefluxive ureteroileal reimplantation were used as a procedure and reservoirs are connected to the proximal urethra in all patients. Cystoscopy and biopsy was done routinly in the bladder neck and there were no tumour and CIS in any patient. Results: The mean age was 65.4 years (53–70) and the mean postoperative follow-up time was 31.8 months (6–48). There was no perioperative or early postoperative (first one month) mortality. Early postoperative complications included acute renal failure in 1 patient (12.5%), deep vein thrombosis in 1 patient (12.5%) and leakage from the pouch in 2 patients (25%). In one patient (12.5%), ileo-pouchal fistula was seen in sixth month and reoperated. Although there was not hypercontinence, one patient (12.5%) had totally incontinence. All other patients had normal micturition and no residual urine. Urethral recurrence was not seen in this postoperative follow-up period but pelvic recurrence and then distant metastases were found in one case (12.5%). Conclusions: The results of ileal orthtopic neobladder after radical or simple cystectomy in appropriate female patients are satisfactory. But certainly, we need the more experiences and studies about this subject. This revised version was published online in September 2006 with corrections to the Cover Date.     

Simultaneous gradient-echo/spin-echo EPI of graded ischemia in human skeletal muscle

The goal of this study was to evaluate the usefulness of blood oxygenation level-dependent (BOLD) methodologies to provide temporal and spatial information about skeletal muscle perfusion. A simultaneous gradient echo (GE) and spin-echo (SE) imaging sequence (GE/SE) with alternating TE was used to acquire images of leg skeletal muscle throughout a stepped reactive hyperemia paradigm. The change in both the GE and SE relaxation rates (ΔR2*, ΔR2) measured during ischemia and reactive hyperemia scaled with the duration of cuff inflation (the ischemic period) plateaued for cuff inflations lasting longer than 120 seconds and were greater in soleus muscle than in gastrocnemius. The ratio ΔR2*/ΔR2 was found to be less during the reactive hyperemia period relative to ischemia. Considering that a greater proportion of capillary vessels are perfused during reactive hyperemia than during ischemia, this finding suggests that magnetic susceptibility methodologies, with their dependence on compartment size, may provide a measure of the relative distribution of small and large vessels in skeletal muscle.     

Effect of age on the response to short-term partial bladder outlet obstruction in the rabbit

OBJECTIVE: To compare the physiological and structural changes after short-term partial bladder outlet obstruction (PBOO) in young and old rabbits, as PBOO results in marked contractile and histological alterations in the bladder. MATERIALS AND METHODS: In all, 20 young (7-8-week-old) and 20 old (2 years old) male rabbits were divided into four subgroups of five each (four obstructed and one sham control rabbit). The rabbits in the groups were evaluated after 1, 3, 7 and 14 days of PBOO, respectively. At the end of the respective periods, cystometry and contractile responses to field stimulation (FS), ATP, carbachol and potassium chloride were determined. Full-thickness sections of the bladder body and base were used to determine the vascular density, nerve density and smooth muscle/collagen ratios. RESULTS: The bladder weight of young rabbits increased at 1-7 days of PBOO and returned toward control levels at 14 days of PBOO, while in old rabbits it was higher than the control during the entire experiment. For the young rabbits, the responses to field stimulation decreased progressively for 1, 3 and 7 days, and increased significantly at 14 days. For old rabbits there was a progressive decrease to a minimal response by 3 days of PBOO and the response remained at this level over 14 days. The contractile response to ATP, carbachol and KCl were similar to the responses to FS. The vascular density in both groups increased to a maximum at 7 days and then decreased toward control values at 14 days. For the young rabbits, nerve density decreased more than in old rabbits. In the old group, the smooth muscle/collagen ratio was increased throughout PBOO and was higher than in young rabbits. The connective tissue compartment was markedly greater than in the young rabbits and the basal mucosa had vacuoles which were not apparent in the young bladders. CONCLUSIONS: This study shows that the adaptive changes to PBOO are faster in young rabbit bladders than in older rabbits.