Rubinstein-Taybi syndrome with piebaldism

A young girl is reported suffering from multiple congenital anomalies typical of Rubinstein-Taybi syndrome, in association with cutaneous lesions of piebaldism and occipital poliosis. Clinical characteristics of both entities are described and cutaneous manifestations of Rubinstein-Taybi syndrome are reviewed. To the best of our knowledge, this is the first case reporting such an association.     

Usefulness of the neuroandrologic profile study in patients with erectile dysfunction: review of a series of 180 cases

OBJECTIVES: To determine the usefulness of a complete neuroandrologic evaluation and SPACE (Single Potential Analysis Cavernous Electromyography) in the study of impotence. METHODS: We performed a clinical study, erection test with papaverine-phentolamine and neuroandrologic evaluation (bulbocavernous EMG, S2-S4 evoked potentials, evoked somatosensorial potentials, SPACE, D10-L2 skin sympathetic potentials, cystometrogram, and filling videocystography) in 180 patients consulting for impotence. RESULTS: We observed a relationship between the clinical diagnosis of impotence and the data from the neuroandrogenic study. The results of the study were classified as normal [in the clinical diagnosis of psychogenic impotence (100%), hormonal (80%) and vascular (60%)], abnormal [prevalent in the clinical diagnosis of structural impotence (87%)]. The erection test was mainly negative in all clinical diagnoses of impotence, except in psychogenic and vascular impotence (60% positive tests). CONCLUSIONS: The clinical data are useful in the diagnosis of impotence. The pharmacological erection test was not found to be very reliable. Complete neuroandrologic evaluation is indicated in non typified and mixed impotence, and can be performed in neurogenic impotence to identify the level of the lesion. Alone, SPACE does not appear to be useful as a screening test for neurologic lesions, but can be useful as a screening test for neuromuscular cavernous lesions. SPACE is indicated in structural, vascular and hormonal impotence. If SPACE is abnormal, the differential diagnosis between neurogenic and myogenic lesion can be made through a complete neuroandrologic evaluation.     

Site-directed mutagenesis of active site residues in a class I endochitinase from chestnut seeds

OBJECTIVE: To determine the utility of the pressure-flow studies in the diagnosis of voiding dysfunction in women. METHODS: A case-control study was conducted on 80 women. These subjects were divided into two groups: 24 controls with a maximum flow percentile greater than or equal to 50 and no residual volume, and 56 cases with a maximum flow percentile less than or equal to 10. The clinically and statistically significant parameters of the pressure-flow study were entered into a multiple regression logistic equation as explanation variables of voiding dysfunction. RESULTS: The clinical variables that influenced voiding dysfunction were age and the presence of stress urinary incontinence. The urethral resistance average (URA) was found to be the only significant urodynamic parameter. Patients with stress urinary incontinence showed a lower probability of voiding dysfunction. Age and URA directly correlated with the probability of voiding dysfunction. CONCLUSIONS: The URA was found to be the only significant urodynamic parameter. The contractility parameters [power at maximum flow (Pw) and maximum power per bladder unit surface (Wmax)] were not found to be useful as detrusor contractility index in women.     

A small domain (6.5 kDa) of bacterial protein G inhibits C3 covalent binding to the Fc region of IgG immune complexes

Attachment of the complement component C3 to antigen-antibody (Ag-Ab) complexes (immune complexes, IC) is the key molecular event responsible for the elimination of many Ag in the form of Ag-Ab-C3b. The CH1 domain and the Fc region of the Ab, which have previously been involved in the binding of C3b, are also the targets of several bacterial IgG-binding proteins, particularly proteins G and A. Here we describe the ability of a small recombinant protein G domain (B2; 6.5 kDa) to inhibit the covalent binding of C3b to the Fc portion of IgG without affecting the binding to the Fab part. Protein G (B2 domain) produced a remarkable inhibition of covalent binding of C3b to IC formed with rabbit IgG, but none with the F(ab')2 fragment, indicating that B2 interferes with the C3b binding to the Fc region. A weak inhibition was observed with IC formed with mouse IgG2b which preferentially binds B2 domain on the CH1 domain of the Fab. To confirm these data, recombinant single-chain Ab devoid of CH1 domains (scAb), and including the rabbit or human Fc portion (hinge-CH2-CH3), were produced and used to form IC. Protein G-B2 domain inhibited C3b binding to IC formed with scAb of either human or rabbit constant regions, supporting the view of a specific blockade of C3b binding to the Fc region. A similar inhibition of C3b binding was observed using protein A instead of protein G B2 domain and the same set of IC. On the CH1 domain, C3b and B2 bind on opposite faces, and therefore do not interfere with each other in their binding. However, B2 domain bound to the inter-CH2-CH3 region impedes the C3b binding to the Fc. This inhibition clarifies the specificity of C3b for the different regions of IgG and explains how bacterial IgG-binding proteins provide the bacteria with a mechanism of evasion from the opsonizing action of complement and contribute to the virulence. This could be a general mechanism of escape because protein G binds the majority of mammalian Ig.     

Sympathetic reflex dystrophy: an uncommon illness in childhood]

We measured activities of dynorphin-converting enzyme (DCE), substance P endopeptidase (SPE) and angiotensin-converting enzyme (ACE) in cerebrospinal fluid (CSF) in 13 patients with rhizopathic pain from an herniated lumbar disc, in 9 patients with pain from coxarthrosis and in 11 control patients without pain. In the patients with disc hernia and coxarthrosis, another sample of CSF was analyzed 3-12 months after treatment, when pain had subsided. The DCE activity in the patients was higher than that in both the control patients and the patients with pain from coxarthrosis (nociceptive pain). Similarly, the activity of SPE was lower in the patients with herniated lumbar disc than in controls and in the patients with coxarthrosis. After treatment, the difference in activity compared to controls was lower, but still significant in patients with herniated discs. The ACE activity did not differ from controls in patients with ischialgia, while it was increased in patients with coxarthrosis. This increase also remained after arthroplasty with pain relief. In conclusion, measurements of neuropeptides may be useful for evaluating neuropathic pain.     

Rat liver messenger ribonucleic acid and enzyme activity of 6-phosphofructo 2-kinase/fructose 2,6-bisphosphatase impairment during the late period of pregnancy

Fructose 2,6-bisphosphate concentration, 6-phosphofructo 2-kinase/fructose 2,6-bisphosphatase (PFK-2/FBPase2) activity, and messenger RNA decreased in maternal rat liver during the last days of gestation, and the recovery started after delivery. Phospho(enol)pyruvate carboxykinase activity and messenger RNA increased in contrast to PFK-2 changes. Measurement of the glycolytic capacity in isolated hepatocytes prepared from rats 1 h after parturition showed a low glucose consumption and an impaired capacity to metabolize glucose. These results stress the relevance of the PFK-2/fructose 2,6-bisphosphate system in the control of the glycolytic flux in liver, and these changes are intended to prevent glucose consumption by maternal liver and contribute to allow gluconeogenesis to proceed at the end of gestation. The physiological basis of this adaptation may lay on the diversion of glucose from maternal to fetal metabolism.