Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome

An unusual case of cholelithiasis in an 18–month-old boy with cervico-oculo-acoustic (Wildervanck's) syndrome is presented. Our patient had Duane's retraction syndrome, Klippel-Feil anomaly and congenital deafness. To our knowledge this is the first case in which a probable association between cholelithiasis and Wildervanck's syndrome has been recorded. On the other hand, the presence of mutual malformations and anomalies such as scoliosis, ventricular septal defect, ectopic kidney, hydrocephalus, hypoplastic thumb and growth retardation seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence.     

Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus

A 17-month-old boy presented with failure to thrive, polyuria, and vomiting. He had been diagnosed clinically with nephrogenic diabetes insipidus and treated by amiloride and hydrochlorothiazide combination without a satisfactory outcome at another center since 1 year of age. The diagnosis was confirmed by genetic analysis (AVPR2mutation), and the treatment was modified to include rofecoxib (a selective cyclooxygenase-2 inhibitor) in addition to hydrochlorothiazide and amiloride. This combination along with a low-salt diet resulted in a dramatic decrease in urinary free-water loss, while no side effect was noted. Because of prohibition of rofecoxib, it had to be substituted first by indomethacin and then by ibuprofen. However, both drugs were ineffective in controlling water diuresis. Thus, we had to replace these drugs by celecoxib (another selective cyclooxygenase-2 inhibitor). We conclude that the combination hydrochlorothiazide/amiloride/cyclooxygenase-2 inhibitor could be successfully used to treat congenital nephrogenic diabetes insipidus.     

Bronchial tear in a child after a liquid petroleum gas tank explosion

Humans have been exposed to blast effects since the invention of gunpowder and explosives. Bronchial injury because of an explosion is a rare but lethal injury that requires prompt recognition and treatment. In this article, we present a case of a bronchial tear after an explosion.     

Mutant mice lacking acetyl-CoA carboxylase 1 are embryonically lethal

Acetyl-CoA carboxylases (ACC1 and ACC2) catalyze the carboxylation of acetyl-CoA to form malonyl-CoA, an intermediate metabolite that plays a pivotal role in the regulation of fatty acid metabolism. We previously reported that ACC2 null mice are viable, and that ACC2 plays an important role in the regulation of fatty acid oxidation through the inhibition of carnitine palmitoyltransferase I, a mitochondrial component of the fatty-acyl shuttle system. Herein, we used gene targeting to knock out the ACC1 gene. The heterozygous mutant mice (Acc1(+/-)) had normal fertility and lifespans and maintained a similar body weight to that of their wild-type cohorts. The mRNA level of ACC1 in the tissues of Acc1(+/-) mice was half that of the wild type; however, the protein level of ACC1 and the total malonyl-CoA level were similar. In addition, there was no difference in the acetate incorporation into fatty acids nor in the fatty acid oxidation between the hepatocytes of Acc1(+/-) mice and those of the wild type. In contrast to Acc2(-/-) mice, Acc1(-/-) mice were not detected after mating. Timed pregnancies of heterozygotes revealed that Acc(-/-) embryos are already undeveloped at embryonic day (E)7.5, they die by E8.5, and are completely resorbed at E11.5. Our previous results of the ACC2 knockout mice and current studies of ACC1 knockout mice further confirm our hypotheses that malonyl-CoA exists in two independent pools, and that ACC1 and ACC2 have distinct roles in fatty acid metabolism.     

Histopathological evaluation of five unusual gingival enlargement cases

Gingival fibromatosis represents the fibrous hyperplasia of the gingival tissue. Clinical examination reveals enlargement of buccal and palatal gingival tissue. Many forms of gingival fibromatosis are of unknown etiology and termed as idiopathic gingival fibromatosis. However, several authors use various terms such as gingivomatosis and elephantiasis to describe these lesions. Our aim in this case report is to present five patients (one female, four males) with unusual clinical forms of gingival hyperplasia and to discuss the histopathological and clinical features in comparison to similar enlargements. Clinical examinations did not reveal increased periodontal pocket depths, besides plaque and gingival index scores were found to be in normal range. All of the patients were systemically healthy and were not subject to medications, which could lead to gingival hyperplasia. Additionally, clinical appearance of the lesions did not show any signs of trauma. Excisional biopsies were performed in all cases. The pathological examinations of the specimens demonstrated fibroconnective tissue characteristics, which were in accordance with the clinical appearance of all patients. Lesions healed successfully without sequelae or infection, and no recurrence was observed after 1-year follow-up.     

Effect of different pharmacologic and chemical agents on the integrity of hydatid cyst membranes

OBJECTIVE: We performed an in vitro investigation of the effects of widely used scolicidal and sclerosing agents, as well as some pharmacologic products, on the integrity of the membrane of hydatid cysts. MATERIALS AND METHODS: Two milliliters each of 22 agents, 2 mL of clear fluid, and one piece of hydatid cyst membrane were put into bottles. The hydatid cyst membranes were evaluated by visual observation and manual palpation. Visual examination of the bottles was performed daily for 7 days, and observations of membrane changes, including translucency, destruction, swelling, and melting, were recorded. Manual evaluation was done on the seventh day by finger examination, and membrane fragility was scored. RESULTS: The hydatid cyst membrane was completely melted in a few minutes in a 2.5% solution of sodium hypochlorite and in 1 hr by a 0.1% sodium hypochlorite solution. The integrity of the hydatid cyst membrane was preserved in alcohol, acetone, glutaraldehyde, albendazole, acetylsalicylic acid, formaldehyde, lidocaine, hydrochloric acid, ammonia, pancreatin, Betadine, methylene blue, and isotonic saline samples. The membranes in the metronidazole and hypertonic saline solutions were not damaged but showed significantly increased fragility. The membranes in levamisole and piperazine hexahydrate became translucent and showed moderate fragility. CONCLUSION: None of the agents that are used in clinical practice had important effects on the dissolution of hydatid cyst membranes. However, sodium hypochlorite solutions completely melted the hydatid cyst membranes. Because the use of this agent on living tissue is limited, further study is needed to investigate its clinical use.