Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

.We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria. One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated creatinine clearances. ^99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by ^99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early stage of disease. Received November 14, 1995; received in revised form and accepted May 23, 1996     

Normothermic renal artery perfusion: A comparison of perfusates

Hypothermia and preservative perfusates have been used to decrease ischemic renal injury. This study was performed to identify the preservative function of perfusates independent of the effects of hypothermia. Rats underwent 45 minutes of renal ischemia. Rectal and renal parenchyma temperatures were monitored and maintained within 1° C of normal. Perfusates were University of Wisconsin solution (UW), Euro-Collins solution, normal saline solution, and Ringer's lactate solution. A nonperfused ischemic control and a nonischemic control group were also evaluated. Parameters evaluated included serum creatinine and blood urea nitrogen levels, renal ischemic injury grade, renal weight, and gross appearance of the injured kidney. Rats treated with UW solution were found to have a significantly lower creatinine, blood urea nitrogen, and injury grade than the other three perfused groups. The external gross appearance of the UW-treated kidneys was normal, whereas that of the other groups demonstrated moderate to severe injury. Although the mean right/left renal weight difference of the UW-treated group was lower than that of the other three groups, this was not statistically significant. Under normothermic conditions in rats, UW solution affords significant renal protection from ischemia. Euro-Collins, normal saline, and Ringer's lactate solutions display no significant protective effect.Presented at the Twentieth Annual Meeting of the Peripheral Vascular Surgery Society, New Orleans, La., June 10, 1995.     

Carbamazepine-induced sperm disorders can be associated with the altered expressions of testicular KCNJ11/miR-let-7a and spermatozoal CFTR/miR-27a

Male infertility is a global health problem, and the underlying molecular mechanisms are not clearly known. Ion channels and microRNAs (miRNAs), known to function in many vital functions in cells, have been shown to play a significant role in male infertility through changes in their expressions. The study aimed to evaluate the alterations of testicular and/or spermatozoal potassium voltage-gated channel subfamily J member 11 (KCNJ11), Cystic fibrosis transmembrane conductance regulator (CFTR), miR-let-7a and miR-27a expressions in carbamazepine-related male infertility. Here, we showed that carbamazepine reduced sperm motility, increased abnormal sperm morphology, and impaired hormonal balance as well as increased relative testis weight and decreased relative seminal vesicle weight. On the other hand, downregulated KCNJ11 and upregulated miR-let-7a expressions were determined in testis (p < .05). Also, downregulated KCNJ11 and upregulated CFTR and miR-27a expressions were found in spermatozoa (p < .05). Interestingly, altered testicular KCNJ11 and miR-let-7a expressions were correlated with decreased sperm motility and elevated sperm tail defect. Besides, spermatozoal CFTR and miR-27a expressions positively correlated with sperm tail defects. The results indicated a significant relationship between ion channel and/or miRNA expression alterations and impaired sperm parameters due to carbamazepine usage.     

Salvage chemotherapy for recurrent primary brain tumors in children

Sixty consecutive evaluable children with recurrent primary tumors of the central nervous system were treated with a regimen of vincristine, nitrogen mustard, procarbazine, and prednisone over a 12-year period. Tumor types included medulloblastoma (19), brain-stem glioma (16), astrocytoma (13), and a miscellaneous glioma (12). Responses and sustained survivals were achieved. Responses were highly dependent on tumor type. Disease progression was halted in 73% of the children with medulloblastoma, and three have survived in complete remission for more than 10 years from the start of therapy with vincristine, nitrogen mustard, procarbazine, and prednisone. Two of four patients with anaplastic glioma, are long-term survivors. In contrast, less than one third of children with brain-stem gliomas responded. Toxicity consisted mainly of neutropenia, thrombocytopenia, infections, and rarely a procarbazine rash.     

Minimally Invasive Treatment of Pilonidal Disease: Crystallized Phenol and Laser Depilation

Pilonidal disease has been treated surgically and by various other methods for many years. The most important problem associated with such treatment is recurrence, but cosmetic outcome is another important issue that cannot be ignored. Today, crystallized phenol is recognized as a treatment option associated with good medical and cosmetic outcomes. We hypothesized that the addition of laser depilation to crystallized phenol treatment of pilonidal disease might increase the rate of success, and this study aimed to determine if the hypothesis was true. Patients who were treated with crystallized phenol and 755-nm alexandrite laser depilation were retrospectively analyzed. In total, 42 (31 male and 11 female) patients were treated with crystallized phenol and alexandrite laser depilation and were followed up between January 2009 and January 2012. In all, 38 patients (90.5%) had chronic disease and 4 (9.5%) had recurrent disease. Among the patients, 26 (61.9%) recovered following 1 crystallized phenol treatment, and the remaining patients had complete remission following repeated treatment. Some patients needed multiple treatments, even up to 8 times. None of the patients had a recurrence during a mean 24 months (range, 6–30 months) of follow-up. Whatever method of treatment is used for pilonidal disease, hair cleaning positively affects treatment outcome. The present results support the hypothesis that the addition of laser depilation (which provides more permanent and effective depilation than other methods) to crystallized phenol treatment (a non-radical, minimally invasive method associated with very good cosmetic results) can increase the effectiveness of the treatment and also reduce the recurrence rate of the disease.     

One-stage Transthoracic Operation for the Treatment of Right Lung and Liver Hydatid Cysts

In this study we reviewed our experience of hydatid disease of the lung and the liver and discussed the safety and the follow-up results of the one-stage operation. Between 1990 and 2004, 142 patients with pulmonary hydatid disease underwent operation in our clinic. Of these, 27 (19%) patients had cysts located on the dome of the liver, treated with phrenotomy through a right thoracotomy. Hydatid cysts located in the lungs were managed by means of cystotomy. For liver cysts, cystotomy and the inversion of the cavity with sutures was the surgical method of choice, and a drain was left in place. The pulmonary cysts of 12 (8.4%) patients were bilateral and 5 (3.5%) patients had prior surgical treatment of hepatic (n = 1) or pulmonary (n = 4) hydatid cysts. The liver cysts were approached transdiaphragmatically after the lung cysts were excised in 27 (19%) patients. In patients with pulmonary cysts, cystotomy, with or without capitonnage was performed on 123 (86.6%) patients, and wedge resection was performed on 11 (7.7%), segmentectomy was performed on 6 patients (4.2%), and lobectomy was performed on 2 (1.4%) patients. There was no mortality, and only a small number of complications were encountered: empyema in 3, excessive biliary drainage in 2, and bronchopleural fistula in only 1. We suggest that the extraction of pulmonary and hepatic cysts simultaneously through the transthoracic route is a useful and safe surgical technique. This technique also prevents the need for a second operation.     

An evaluation of quality of life of mothers of children with enuresis nocturna

The aim of this study was to evaluate the impact of enuresis nocturna on quality of life of the mothers. Mothers who have a child with monosymptomatic nocturnal enuresis (n = 28) and mothers who have a child without any health problems (n = 38) were enrolled in the study. Groups were in balance for background variables (child’s age, gender, and number of siblings; mother’s age, marital status, highest year of education completed, and occupation; presence of health insurance; and type of residence). Short-Form Health Survey (SF-36) Questionnaire, the Beck Depression Inventory (BDI), and Spielberg’s State-Trait Anxiety Inventory (STAI) were applied to all mothers. The mothers of children with enuresis had significantly lower quality-of-life scores in the SF-36 for the bodily pain (p = 0.015) and role emotional (p = 0.014) subscales. We observed significant difference between groups according to BDI; mean score was higher in mothers who have a child with enuresis nocturna (p = 0.017). There was no significant difference between groups according to the STAI. Significant differences according to bodily pain and role emotional subscales of SF-36, and the BDI scores, show that the mothers were negatively affected by having a child with monosymptomatic nocturnal enuresis.