The urethral valve of Guérin and lacuna magna: clinical presentations and urodynamic findings

We described the clinical presentations, radiological findings, urodynamic patterns and endoscopic management in a series of patients with symptomatic lacuna magna (LM). The medical records of 14 boys diagnosed as LM were reviewed, retrospectively. The presence of LM was first diagnosed based on clinical history, physical exam, and radiological findings; then confirmed by urethroscopy. Urodynamic study was performed in 10 boys before and after the procedure. Transurethral incision and fulguration of the valve was performed in all patients. The mean (range) age of patients was 3.1 years (6 months to 8 years). The boys presented with dysuria (n = 9), postvoid dribbling (n = 4), hematuria (n = 3), bloody spotting (n = 3), enuresis (n = 4), and glanular irritation and pain (n = 6). The post-operative period was uneventful in all patients. The symptoms were relieved and repeat radiological exam showed complete resolution of LM in all children by the 3rd post-surgical month. Before the procedure, main urodynamic abnormalities in children were high P(detmax) and detrusor instability that significantly improved within 3-6 months after treatment. Despite evidence suggesting that a LM is a frequent, normal anatomical variant, the valve may cause symptoms such as intermittent hematuria, dysuria, and bloody spotting of underwear. The lesion may be associated with obstructive urodynamic patterns in some children. Endoscopic treatment of patients effectively relieves the symptoms and corrects the urodynamic abnormalities.     

Quinolinic acid in children with congenital hyperammonemia

Levels of the excitotoxin quinolinic acid (QUIN) were measured in the cerebrospinal fluid of infants and children with congenital hyperammonemia. Twofold to tenfold elevations of QUIN were found in 4 neonates in hyperammonemic coma (QUIN range, 250–990 nM; control mean, 110 ± 90 nM; p < 0.005). Similar elevations of neopterin were found (range, 24–75 nM; control mean, 9.0 ± 4.9 nM; p < 0.005). In addition, significant elevations of QUIN were found in 14 older children with congenital hyperammonemia (mean, 50 ± 20 vs 17 ± 6 nM; p < 0.05). Neopterin levels were not elevated in these children. The QUIN may originate from an increase in tryptophan transport across the blood-brain barrier or from induction of indolamine-2,3-dioxygenase activity. These findings support a role for QUIN in the neuropathology of congenital hyperammonemia. They also suggest the potential utility of N-methyl-D -aspartate receptor–-blocking agents or inhibitors of QUIN synthesis in the treatment of hyperammonemic coma.     

Serum antibodies to neurofilament antigens in patients with neurological and other diseases and in healthy controls

A total of 529 sera from patients with a wide variety of neurological and non-neurological diseases, and 101 sera from healthy control subjects, were examined by indirect immunofluorescence for the presence of autoantibodies to neurofilament antigens. Antibodies were found in approximately 50% of sera from patients with spongiform encephalopathies, 15-30% of sera from patients with other neurological and non-neurological diseases, and 7% of sera from healthy controls. The antigenic stimulus to these autoantibodies in very diverse disease processes is unknown, but as presently assayed, they are not of sufficient specificity to be useful as an aid to clinical diagnosis.     

Steatocystoma multiplex manifesting as a foreign body granuloma

A case of steatocystoma multiplex, which manifested as a foreign body granuloma, is presented. These multiple lesions appear on different body surfaces and were present for more than twenty years before diagnosis.     

Hedgehog signaling: From the cuirass to the heart of pancreatic cancer

Exocrine pancreatic cancer is the fifth cause of cancer-related death in Europe and carries a very poor prognosis for all disease stages. To date no medical treatment has significantly increased patients' survival. One of the reasons for pancreatic cancer's chemoresistence is the complex tumor architecture: cancer cells are surrounded by a dense desmoplastic stroma that blocks drug delivery. Moreover, pancreatic cancer is characterized by a marked heterogeneity of cells, including cancer stem cells (CSCs) that act as tumor-initiating cells and hierarchically control the differentiated cancer cells. In particular, this subpopulation is resistant to classic cytotoxic therapies, and seems to be responsible for disease renewal. Hedgehog signaling (HH) is implicated in pancreatic gland development during embryogenesis and is reactivated during tumorigenesis and the maintenance of pancreatic cancer.Some studies demonstrated that the Hedgehog-secreted signaling proteins are overexpressed in both the stromal and CSCs pools, implying an abnormal activation of HH in the main compartment of pancreatic cancer. For this reason, the Hedgehog pathway could be an interesting target for clinical trials to increase drug concentration in neoplastic cells and hence deplete the stroma and directly kill tumor-initiating cells.