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1.
Ann Ig ; 26(3): 205-12, 2014.
Article in English | MEDLINE | ID: mdl-24998211

ABSTRACT

OBJECTIVE: To analyze the yogurt amino acid profile starting from marketing through the whole shelf-life. The evaluation of the proteolytic activity of Lactobacillus delbrueckii subsp. bulgaricus and Streptococcus salivarius subsp. thermophilus, allows to deduce their vitality during the shelf-life period and within 45 days. METHODS: Three types of full fats yogurts have been analyzed (a) natural white (b) sweet white and (c) whole fruit - in two stages: t0 (first day of shelf-life) and t1 (end of shelf-life). The proteins have been analyzed by the Kjeldahl method and the amino acid profile by HPLC. RESULTS: In natural yogurt a significant increase of the amount of free amino acids has been observed during the period of shelf-life (97%). In the sweetened full fats and fruit yogurt, instead, there is a lower increase of respectively 33% and 39% CONCLUSIONS: In whole milk natural yogurt, based on our data, the proteolytic activity seems to persist during the entire period of the shelf-life and this can be considered an index of bacterial survival, especially of Lactobacillus delbrueckii subsp. bulgaricus during the marketing process.


Subject(s)
Amino Acids/chemistry , Lactobacillus delbrueckii/metabolism , Streptococcus thermophilus/metabolism , Yogurt/microbiology , Chromatography, High Pressure Liquid , Food Storage , Time Factors
3.
Blood Purif ; 30(3): 166-71, 2010.
Article in English | MEDLINE | ID: mdl-20924170

ABSTRACT

During hemodialysis, amino acids (AA) are lost in the ultrafiltrate with consequent modification of their plasma profile. The aim of this cross-sectional study was to evaluate intradialytic changes of plasma AA levels during a single session of hemodiafiltration with endogenous reinfusion (HFR) versus acetate-free biofiltration (AFB). 48 patients chronically treated with HFR or AFB were matched 1:1 for age, gender, Kt/V and diabetes. Blood samples were collected at the beginning and the end of dialysis. Baseline plasma levels (µmol/l) of total AA (3,176 ± 722), essential AA (889 ± 221), and branched chain AA (459 ± 140) levels in HFR were similar to those in AFB (3,399 ± 621, 938 ± 277, and 463 ± 71, respectively). Plasma intradialytic AA levels did not change in HFR, while in AFB there was a reduction by about 25%. In conclusion, as compared with AFB, HFR has a sparing effect on AA loss due to the lack of adsorption by cartridge and to their complete reinfusion in blood.


Subject(s)
Amino Acids/blood , Hemodiafiltration , Renal Dialysis , Aged , Cross-Sectional Studies , Hemodialysis Solutions/administration & dosage , Humans , Middle Aged
4.
Eur Rev Med Pharmacol Sci ; 14(1): 25-30, 2010 Jan.
Article in English | MEDLINE | ID: mdl-20184086

ABSTRACT

Sodium-channel blockers act by slowing sodium influx into myocytes through voltage gated channels. Many substances have sodium-channel blocking properties and many others show this effect when taken in overdose. Sodium-channel blocker poisoning, associated with a high death rate, is characterized by a variety of clinical presentation, depending on the pharmaceutical agent involved. Sodium bicarbonate or lactate, increasing serum pH and extracellular concentration of the ion, displace the drug from its receptor sites and can be used for the treatment of cardiac toxicity in the setting of sodium-channel blocker poisoning. In spite of this theoretical assumption, the role played by hypertonic sodium salts is not well elucidated and conflicting results have been reported. Authors review the pathophysiologic mechanisms of sodium-channel blocker poisoning and the evidences in literature concerning the efficacy of hypertonic sodium salts in the treatment of the related toxicity.


Subject(s)
Poisoning/therapy , Saline Solution, Hypertonic/therapeutic use , Sodium Channel Blockers/poisoning , Electrocardiography/drug effects , Electrophysiology , Humans , Poisoning/diagnosis , Poisoning/physiopathology
5.
Plant Dis ; 94(2): 274, 2010 Feb.
Article in English | MEDLINE | ID: mdl-30754297

ABSTRACT

Dwarf willow myrtle (Agonis flexuosa (Willd.) Sweet) cv. Nana, an evergreen ornamental shrub belonging to the Myrtaceae, is grown in Italy as an ornamental potted plant. In November 2008, a widespread new leaf spot disease was noticed on ~80% of 5,000 6-month-old potted plants. Plants were obtained from cuttings and produced by a commercial nursery in Catania Province. Symptomatic leaves showed minute, reddish brown spots that enlarged (3 to 5 mm in diameter) and then darkened, presenting a necrotic center defined by a dark purple halo. Leaf spots were surface disinfested with 0.8% NaOCl and plated on potato dextrose agar. Twenty isolates of the fungus that was consistently isolated from the spots were selected and cultured for 8 days at 25°C on carnation leaf agar (CLA). Macroconidiophores consisted of a stipe, a penicillate arrangement of fertile branches, and stipe extension terminating in an obpyriform to ellipsoidal vesicle (6 to 10 µm in diameter). Cylindrical conidia were rounded at both ends, straight, one-septate, and ranged from 44 to 60 × 4 to 5 µm. The fungus was tentatively identified as Cylindrocladium pauciramosum based on these morphological characteristics (2). All single-conidium isolates were mated with tester strains of Calonectria pauciramosa C. L. Schoch & Crous, telomorph of C. pauciramosum, on CLA and produced fertile perithecia (4). Perithecia were solitary or in groups, orange to red-brown, subglobose to ovoid, and ranged from 280 to 400 µm long × 180 to 290 µm in diameter. Further confirmation of species was obtained by amplification and sequencing of the intergenic spacer (IGS) region of rDNA, using M13 Forward (-20) and M13 Reverse primers. On the basis of the complete IGS sequence, two primer sets (218F/218R and 106F/106R) were designed and successfully used in a nested-PCR protocol for the detection of C. pauciramosum from tissues of infected plants (3). On the basis of the combination of morphological characters, mating type, and molecular data, the isolates were identified as C. pauciramosum C.L. Schoch & Crous. One representative isolate (DISTEF-Af1) was deposited at Centraalbureau voor Schimmelcultures open fungi collection (Fungal Biodiversity Centre, Utrecht, the Netherlands; CBS 124659). Pathogenicity tests were performed by adding sterile water to CLA cultures of C. pauciramosum from a single-conidium isolate (DISTEF-Af1) and spraying the resulting spore suspension (105 conidia per ml) on the leaf surface of 20 6-month-old A. flexuosa cv. Nana potted plants. The same number of plants served as noninoculated controls. Following inoculation, plants were kept in plastic bags in a growth chamber at 25 ± 1°C. All inoculated plants developed circular, brown leaf spots identical to those observed in the nursery 5 to 7 days after inoculation. Control plants remained symptomless. C. pauciramosum was always reisolated from the infected plants and identified as previously described. Leaf spotting in seedlings of A. flexuosa was previously associated with infections by C. scoparium in Australia (1). To our knowledge, this is the first record in the world of leaf spots caused by C. pauciramosum on A. flexuosa. References: (1) A. L. Bertus. Agric. Gaz. N. S. W. 87:22, 1976. (2) P. W. Crous. Taxonomy and Pathology of Cylindrocladium (Calonectria) and Allied Genera. The American Phytopathological Society, St. Paul MN, 2002. (3) F. Nigro et al. J. Plant Pathol. 88:S22, 2006. (4) G. Polizzi and P. W. Crous. Eur. J. Plant Pathol. 105:407, 1999.

6.
Eur Rev Med Pharmacol Sci ; 13(3): 197-200, 2009.
Article in English | MEDLINE | ID: mdl-19673171

ABSTRACT

Acute kidney injury (AKI) is a common medical problem among critical patients. In current clinical practice, AKI is diagnosed by measuring serum creatinine concentration, which is an unreliable and delayed marker of the deterioration of kidney function. Its rise occurs when a significant amount of renal function has been lost. Many are the factors able to modify physiological levels, such as age, gender, ethnicity, dietary protein intake, muscle mass or metabolism, hydration status and drugs. Definitely, creatinine, as well as blood urea nitrogen (BUN) or urine markers of kidney injury (fractional excretion of sodium, urinary concentrating ability, casts), do not directly reflect cell injury, but rather the delayed functional consequences of the damage. Due to the lack of sensitive and specific biomarkers, the identification of early stages of AKI has been impossible but, recently, neutrophil gelatinase-associated lipocalin (NGAL) is emerging as a novel biomarker of AKI from several etiologies, such as cardiac surgery, contrast nephropathy, kidney transplantation and sepsis. This protein, produced in a number of human tissues and particularly in the distal nephron, has siderophore-chelating property and acts as an iron-trasporting shuttle. NGAL increases in both serum and urine 48 hours before the rise of creatinine, and shows a strong correlation with change in creatinine concentrations. An early diagnosis of AKI allows the early institution of therapeutic measures for the protection of renal function and improves the prognosis. This possibility is particularly important in the Emergency Department for the treatment of critical patients with potential nefrotoxic therapies. Use of NGAL as early marker of AKI in the Emergency Department is discussed.


Subject(s)
Clinical Enzyme Tests , Emergency Service, Hospital , Kidney Diseases/diagnosis , Lipocalins/blood , Proto-Oncogene Proteins/blood , Acute Disease , Acute-Phase Proteins , Biomarkers/blood , Early Diagnosis , Humans , Lipocalin-2 , Predictive Value of Tests , Sensitivity and Specificity
7.
Plant Dis ; 93(11): 1217, 2009 Nov.
Article in English | MEDLINE | ID: mdl-30754595

ABSTRACT

Scarlet honey myrtle (Melaleuca fulgens R. Br.), native to Australia, is an evergreen colorful shrub (Myrtaceae) and grown in Italy as an ornamental plant. During November 2008, a widespread disease was noticed on ~90% of 3,000 6-month-old M. fulgens cv. Red potted plants. Plants were obtained from cuttings and produced by a commercial nursery in Catania Province. Symptomatic plants showed a crown rot and longitudinal sections of tissues revealed a brown discoloration of the basal stem. As a consequence, leaves gradually became necrotic and abscised, followed by death of the entire plant. Root rots and leaf spots were not observed. M. gibbosa, M. ericifolia, M. thymifolia, and M. elliptica, cultivated in the same nursery, did not show disease symptoms. A Cylindrocladium sp. was consistently isolated from the crown and basal stem of symptomatic plants on potato dextrose agar (1). Ten Cylindrocladium isolates obtained from infected basal stems and crowns were selected and cultured for 8 days at 25°C on carnation leaf agar (CLA). Macroconidiophores consisted of a stipe, a penicillate arrangement, and a stipe extension terminating in an obpyriform to ellipsoidal vesicle (6 to 10 µm in diameter). Cylindrical conidia were rounded at both ends, straight, 1-septate, and 42 to 60 × 4 to 5 µm. All single-conidial isolates were mated with opposite tester strains of C. pauciramosum on CLA and produced fertile perithecia (3). Perithecia were solitary or in groups, orange to red-brown, subglobose to ovoid, and 270 to 400 µm high × 180 to 290 µm in diameter. Further confirmation of species was obtained by amplification and sequencing of the intergenic spacer (IGS) region of rDNA with the M13 forward (-20) and M13 reverse primers. On the basis of the complete IGS sequence, two primer sets (218F/218R and 106F/106R) were designed and successfully used in a nested-PCR protocol for the detection of C. pauciramosum from tissues of infected plants (2). On the basis of morphological characters, mating type, and molecular data, the isolates were identified as C. pauciramosum C.L. Schoch & Crous. One representative isolate (DISTEF-MFR2; CBS 124657) was deposited at Centraalbureau voor Schimmelcultures open fungi collection (Fungal Biodiversity Centre, Utrecht, the Netherlands). Pathogenicity tests were performed by adding sterile water to CLA cultures of C. pauciramosum from a single-conidial isolate and incorporating the resulting spore suspension (105 conidia per ml) on the soil surface of 20 3-month-old M. fulgens cv. Red potted plants. The same number of plants served as uninoculated controls. Following inoculation, plants were well irrigated and maintained in a growth chamber at 25 ± 1°C and 90 to 95% relative humidity. All inoculated plants developed crown rot symptoms identical to those observed in the nursery 2 months after inoculation. Control plants remained symptomless. C. pauciramosum was always reisolated from the infected plants and identified as previously described. C. pauciramosum was previously detected in Italy as being responsible for a leaf spot on M. hypericifolia (3). To our knowledge, this is the first record in the world of crown rot of scarlet honey myrtle caused by C. pauciramosum. References: (1) P. W. Crous. Taxonomy and Pathology of Cylindrocladium (Calonectria) and Allied Genera. The American Phytopathological Society, St. Paul MN, 2002. (2) F. Nigro et al. J. Plant Pathol. 88:S22, 2006. (3) G. Polizzi and P. W. Crous. Eur. J. Plant Pathol. 105:407, 1999.

8.
Urol Int ; 81(1): 94-100, 2008.
Article in English | MEDLINE | ID: mdl-18645279

ABSTRACT

INTRODUCTION: Normal and abnormal bladder contractions are principally mediated by acetylcholine released from postganglionic parasympathetic nerves. Since amikacin was reported to affect neurotransmission by a prejunctional mechanism, we investigated the effect of amikacin on isolated detrusor smooth muscle contraction to further evaluate its potential relaxant properties. MATERIALS AND METHODS: Detrusor smooth muscle obtained from 15 rats and 8 patients undergoing surgery were studied through measurement of isometric muscular contraction induced with electrical field stimulation (EFS) (10-60 Hz), carbachol (10(-7) to 10(-3)M) and nicotine (10(-7) to 10(-3)M) in the presence or absence of 1 mM amikacin in a low-Ca medium. RESULTS: Amikacin (1 mM) significantly reduced EFS-induced contraction of isolated rat and human detrusor muscle by 33 +/- 6.57% (p < 0.005) and 40 +/- 1.14% (p < 0.001), respectively. Contraction was restored after addition of calcium chloride (1 mM). The effect of amikacin was comparable to that of magnesium ions. Rat and human detrusor contractile response to nicotine was inhibited by 70 +/- 8.27% (p < 0.001) and 64 +/- 14.09% (p < 0.01) after the addition of amikacin (1 mM), while no significant effect was observed on carbachol-induced stimulation. CONCLUSION: Amikacin significantly inhibited detrusor contraction evoked by prejunctional stimulation in vitro, suggesting a depressant effect on autonomic neurotransmission in urinary bladder.


Subject(s)
Amikacin/pharmacology , Anti-Bacterial Agents/pharmacology , Muscle Contraction/drug effects , Muscle, Smooth/drug effects , Muscle, Smooth/pathology , Urinary Bladder/drug effects , Animals , Calcium Chloride/metabolism , Carbachol/metabolism , Dose-Response Relationship, Drug , Humans , In Vitro Techniques , Male , Neurotransmitter Agents/metabolism , Nicotine/metabolism , Rats , Rats, Wistar , Urinary Bladder/innervation
9.
Transplant Proc ; 39(6): 2036-7, 2007.
Article in English | MEDLINE | ID: mdl-17692685

ABSTRACT

INTRODUCTION: Malignancies are a well-known complication of immunosuppressive therapy among renal transplant recipients, representing an important cause of long-term morbidity and mortality. Rapamycin has been shown to limit the proliferation of a number of malignant cell lines in vivo and in vitro. METHODS: Eight patients developed the following malignancies after kidney transplantation (mean 102.6 months; range 12 to 252): metastatic gastric cancer (n = 1), metastatic colon cancer (n = 1), bilateral nephrourothelioma (n = 1), skin cancer (n = 1), Kaposi's sarcoma (n = 2), posttransplant lymphoproliferative disorder (PTLD) (n = 2). After the diagnosis of malignancy, the patients were switched from calcineurin inhibitor-based immunosuppression to rapamycin (monotherapy, n = 2), associated with steroids (n = 4) or mycophenolate mofetil (n = 2). RESULTS: Both patients with metastatic cancer underwent chemotherapy and then succummbed after 6 and 13 months. After a mean follow-up of 20.3 months (range 2 to 47), the remaining six patients are free from cancer disease. Renal graft function was unchanged from diagnosis throughout the follow-up. CONCLUSION: Our observations suggested that rapamycin-based immunosuppression offered the possibility of regression of nonmetastatic tumors. Nevertheless, it is difficult to assess whether tumor regression was attributed to Rapamycin treatment or to the reduced immunosuppression.


Subject(s)
Immunosuppressive Agents/therapeutic use , Kidney Transplantation/adverse effects , Neoplasms/diagnosis , Postoperative Complications/diagnosis , Sirolimus/therapeutic use , Humans , Neoplasms/immunology , Neoplasms/prevention & control
10.
Plant Dis ; 90(8): 1108, 2006 Aug.
Article in English | MEDLINE | ID: mdl-30781315

ABSTRACT

Potato is an important and highly valued crop throughout the Maltese Archipelago. Much of the production is exported to Holland. In January 2005, minor wilts and chlorosis of potato plants were observed in a field at Hal-Farrug, Luqa (Malta). Verticillium dahliae Kleb (1) was isolated on potato dextrose agar (PDA) from vascular tissue excised from the base of the plants. Three different isolates were obtained, all of which were typically distinguished by verticillately shaped conidiophores and the abundant production of microsclerotia on PDA. In May 2005, colonies of these three isolates were cultured in potato dextrose broth (PDB), from which conidial suspensions of each isolate were prepared with sterile distilled water to a concentration of 107 ml-1. For each isolate, 10 7-day-old potato seedlings were inoculated via root immersion in the inoculum suspension and transplanted to 20-cm diameter plastic pots containing a soil/peat mixture (1:1 [v/v]). Seedlings treated in the same way with sterile distilled water were used as a control. All plants were kept under controlled glasshouse conditions (20 ± 3°C) and watered to field capacity as required. Minor chlorosis and wilt of the pair of lower-most leaves was noted 7 days after inoculation. During subsequent weeks, wilt began to appear in the typical half-leaf form, while chlorosis was noted on all organs of the plants, including the principal stem (3). Symptoms were absent on the control plants. Measuring the weight of the new tubers produced by each plant revealed no apparent difference between inoculated and healthy plants; nevertheless, inoculated plants resulted in more tubers with a smaller diameter in respect to those of the uninoculated plants. V. dahliae was never isolated from tubers. Little to no variation in symptom severity was noted among plants inoculated with the three individual isolates. At the end of June, V. dahliae was reisolated on PDA from all inoculated plants, in particular, from vascular tissues originating from principal and lateral stems, crowns, and roots. All attempts to isolate the pathogen from control plants were unsuccessful. Molecular detection of the pathogen by using species-specific primers and real-time Scorpion PCR (2) confirmed the results obtained by the classical isolation method. The low symptom severity observed by the growers in the field, usually mistaken for normal dieback of aged plants, might explain why V. dahliae was never reported before on potatoes in the Maltese Archipelago. References: (1) D. L. Hawksworth and P. W. Talboys. No. 256. Descriptions of Pathogenic Fungi and Bacteria. Commonwealth Mycological Institute (CMI), Kew, Surrey, UK, 1970. (2) F. Nigro et al. Pages 454-461 in: Proc. Convegno Internazionale di Olivicoltura. VI Giornate Scientifiche SOI, Spoleto, 2002. (3) W. R. Stevenson et al., eds. Compendium of Potato Diseases. 2nd ed. The American Phytopathological Society, St Paul, MN, 2001.

11.
Minerva Cardioangiol ; 54(2): 277-84, 2006 Apr.
Article in English, Italian | MEDLINE | ID: mdl-16778760

ABSTRACT

Pulmonary thromboembolism is a relatively common disease in an Emergency Department. Diagnosis, often difficult, is based on careful evaluation of risk factors, clinical examination, radiological and laboratory investigations. Plasma D-dimer, a degradation product of cross-linked fibrin with low specificity and very high sensibility, is considered extremely useful as screening to rule out a pulmonary thromboembolism. We report the case of a 74 year old woman who presented in the Emergency Department suffering from the sudden onset of dyspnea 4 hours before. Plasma D-dimer (automated latex-enhanced turbidimetric test) was normal (253 ng/mL; normal value: 278 ng/mL), but spiral CT angiography showed a sub-massive thromboembolism of the principal branch of the right pulmonary artery, also involving the middle and the inferior lobar branches. A cardiac echo-color-Doppler demonstrated an enlargement of the right cardiac section with telediastolic pressure in the pulmonary artery of 74 mmHg (normal value 4-12 mmHg). A second measurement of plasma D-dimer, 12 hours later, remained in the normal range (274 ng/mL) and only after four days was there a significant increase (1017 ng/mL). The authors, taking the case as a starting point, stigmatize the difficulties that such diagnosis involves, despite indications of guidelines.


Subject(s)
Pulmonary Embolism/diagnosis , Acute Disease , Aged , Female , Fibrin Fibrinogen Degradation Products/analysis , Humans , Pulmonary Embolism/blood , Reference Values
12.
J Neurosci ; 19(21): 9298-305, 1999 Nov 01.
Article in English | MEDLINE | ID: mdl-10531434

ABSTRACT

Transcripts for the beta2 and the beta4 nicotinic acetylcholine receptor (nAChR) subunits are found throughout the CNS and the peripheral nervous system. These two beta subunits can form heteromultimeric channels with any of the alpha2, alpha3, alpha4, or alpha5 subunits in heterologous expression systems. Nonetheless, the subunit composition of native nAChRs and the role of different nAChR subtypes in vivo remain unclear. We prepared null mutations for the beta2 and the beta4 genes and bred beta2-/-beta4-/- mice by mating mice of identical beta2-/-beta4+/- or beta2+/-beta4-/- genotype. The beta2-/- and the beta4-/- single-mutant mice grow to adulthood with no visible phenotypic abnormalities. The beta2-/-beta4-/- double mutants survive to birth but have impaired growth and increased perinatal mortality. They also present enlarged bladders with dribbling urination and develop urinary infection and bladder stones. The ocular pupils are widely dilated and do not constrict in response to light. Histological studies revealed no significant abnormalities of brain or peripheral tissues except for hyperplasia in the bladder mucosa of beta4-/- and beta2-/-beta4-/- mutants. Bladder strips from beta2-/-beta4-/- mice did not respond to nicotine but contracted when stimulated with a muscarinic agonist or electric field stimulation. Bladder strips from beta4 mutants did not respond to nicotine despite the absence of major bladder dysfunction in vivo. Acetylcholine-activated whole-cell currents were absent in superior cervical ganglion neurons from beta2-/-beta4-/- mice and reduced in neurons from beta4-/- mice. Although there is apparent redundancy and a superficially normal phenotype in beta2-/- and beta4-/- mice, physiological studies indicate major deficits in the beta4-/- mice. Our previous description of a similar phenotype in alpha3-/- mice and the current data suggest that the alpha3 and the beta4 subunits are major components in autonomic nAChRs. The phenotype of the beta2-/-beta4-/- and alpha3-/- mice resembles the autosomal recessive megacystis-microcolon-hypoperistalsis syndrome in humans.


Subject(s)
Autonomic Nervous System Diseases/genetics , Neurons/physiology , Receptors, Nicotinic/physiology , Superior Cervical Ganglion/physiopathology , Animals , Autonomic Nervous System Diseases/physiopathology , Cells, Cultured , Crosses, Genetic , Exons , Eye Abnormalities/genetics , Eye Abnormalities/pathology , Female , Genomic Library , Introns , Macromolecular Substances , Male , Mice , Mice, Inbred C57BL , Mice, Inbred Strains , Mice, Knockout , Mucous Membrane/abnormalities , Mucous Membrane/pathology , Neurons/drug effects , Nicotine/pharmacology , Receptors, Nicotinic/deficiency , Receptors, Nicotinic/genetics , Superior Cervical Ganglion/physiology , Urinary Bladder/abnormalities , Urinary Bladder/pathology
13.
Thromb Haemost ; 76(4): 502-4, 1996 Oct.
Article in English | MEDLINE | ID: mdl-8902985

ABSTRACT

CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.


Subject(s)
Blood Coagulation Factors/physiology , Congenital Disorders of Glycosylation/blood , Adolescent , Adult , Blood Coagulation Factors/antagonists & inhibitors , Child , Female , Hemostasis , Humans , Male , Partial Thromboplastin Time , Prothrombin Time
14.
Am J Med Genet ; 47(5): 653-5, 1993 Oct 01.
Article in English | MEDLINE | ID: mdl-8266992

ABSTRACT

We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.


Subject(s)
Lipomatosis/genetics , Mosaicism , Proteus Syndrome/genetics , Adolescent , Brain Diseases/complications , Brain Diseases/genetics , Brain Diseases/pathology , Humans , Lipomatosis/complications , Lipomatosis/pathology , Male , Phenotype , Proteus Syndrome/complications , Proteus Syndrome/pathology , Skin Diseases/complications , Skin Diseases/genetics , Skin Diseases/pathology
15.
Eur J Pharmacol ; 393(1-3): 137-40, 2000 Mar 30.
Article in English | MEDLINE | ID: mdl-10771006

ABSTRACT

Micturition is achieved through complex neurological mechanisms involving somatic, autonomic and central components. This article briefly reviews recent findings on the autonomic control of urinary bladder function. Neuronal nicotinic acetylcholine receptors mediate fast synaptic transmission in autonomic ganglia, and activation of nicotinic receptors in parasympathetic bladder neurons produces contraction of the detrusor muscle. Autonomic ganglia contain transcripts for the alpha(3), alpha(4), alpha(5), alpha(7), beta(2) and beta(4) nicotinic subunits, which can assemble to form multiple nicotinic receptor subtypes, but the exact nicotinic receptor subunit composition in bladder ganglia is unknown. Mutant mice lacking the alpha(3) or the beta(2) and the beta(4) nicotinic subunits have enlarged bladders with dribbling urination and develop urinary infection and bladder stones. Bladder strips from alpha(3) null mice do not respond to nicotine but contract when stimulated with a muscarinic agonist or electric field stimulation. Mice lacking the beta(2) subunit have no overt bladder phenotype, and their bladders contract in response to nicotine. Surprisingly, bladder strips from beta(4) mutant mice do not respond to nicotine despite the absence of major bladder dysfunction in vivo. These findings suggest that nicotinic receptors containing the alpha(3) and the beta(4) subunits are necessary for normal bladder function.


Subject(s)
Autonomic Nervous System/physiology , Receptors, Nicotinic/physiology , Urinary Bladder/physiology , Animals , Mice , Mice, Knockout , Receptors, Nicotinic/deficiency
16.
Br J Ophthalmol ; 78(11): 845-6, 1994 Nov.
Article in English | MEDLINE | ID: mdl-7848982

ABSTRACT

Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pigmentosa with extinguished scotopic electroretinogram. The importance of CDG syndromes as one of the metabolic causes of retinal dystrophy with 'bony spicule' pigment is stressed.


Subject(s)
Carbohydrates/deficiency , Glycoproteins/chemistry , Retinal Degeneration/etiology , Adolescent , Adult , Child , Evoked Potentials, Visual , Female , Humans , Male , Retinal Degeneration/genetics , Syndrome , Visual Acuity
17.
J Chromatogr A ; 721(2): 345-9, 1996 Jan 19.
Article in English | MEDLINE | ID: mdl-8611944

ABSTRACT

The purpose of the present work was to develop a procedure able to separate and identify the major protein components of ewe's milk by capillary zone electrophoresis (CZE). Thirty-five individual milk samples of Massese breed were analyzed using a coated capillary. The analyses were performed at pH 3.0 at a temperature of 40 degrees C in the presence of 6 M urea. The purification of casein fractions was carried out by preparative fast protein liquid chromatography and the CZE results were confirmed by polyacrylamide agarose gel electrophoresis (PAAGE). The identification of whey proteins was also carried out by comparison with high-performance liquid chromatography data. The present study permitted the identification of the major components of ewe's milk by high-resolution electropherograms and characteristic migration times (tM). it was also possible to detect the presence of genetic variants of beta-lactoglobulin. The tM of k-casein was determined after enzymatic action of chymosin by verifying the simultaneous formation of p-k-casein. In most of the samples a fast moving alpha-s2-casein variant was identified by comparison with PAAGE results. Minor genetic differences were found in other casein fractions for this pool of samples.


Subject(s)
Electrophoresis, Capillary/methods , Milk/chemistry , Sheep , Animals , Caseins/analysis , Chromatography, High Pressure Liquid , Electrophoresis, Polyacrylamide Gel , Female , Genetic Variation , Hydrogen-Ion Concentration , Lactoglobulins/analysis , Lactoglobulins/genetics
18.
Arch Ital Urol Androl ; 71(3): 155-64, 1999 Jun.
Article in Italian | MEDLINE | ID: mdl-10431407

ABSTRACT

Bilateral testicular tumors represent a very rare event and account for 2.7% of all testicular neoplasms. 15% of bilateral testicular tumors occurs simultaneously in both testicles, but in 85% of cases the second neoplasia appears in the remaining testicles of patients affected by unilateral testicular tumor after a very variable period of time. The aim of this work was to value our experience on 11 cases of bilateral testis tumors: six arised simultaneously in both gonads (five germ cell tumors and one Leydig cell tumor) and five with metachronous appearance (all germ cell tumors). A comprehensive valuation has been made considering other cases reported in literature until 1996, in order to identify predisposing conditions to bilateral disease. Examining separately synchronous and metachronous neoplasms, as far as we know, only 218 cases of simultaneous bilateral testicular tumors are reported in literature, and most of them are pure seminomas; however, after 1988 this result has been reversed in favour of neoplasms with non-seminomatous elements: this data suggests inadequate classification in the past. Moreover, considering 243 cases of metachronous neoplasms, 126 of them (51.9%) began as non-seminomatous tumors: this disagrees with an old belief that patients affected by seminoma are more prone to develop a second tumor in the remaining testicle. It has been also possible to confirm that testis sparing surgery allows to maintain both fertility and endocrinous function. This technique can be used in any potentially benign neoplasms (as Leydig cell tumors) while the same treatment modality, although already reported in literature, needs more experience to be considered as a successful therapy for germinal tumors.


Subject(s)
Germinoma/pathology , Leydig Cell Tumor/pathology , Testicular Neoplasms/pathology , Adolescent , Adult , Humans , Male , Seminoma/pathology
19.
Infez Med ; 9(4): 232-6, 2001 Dec.
Article in Italian | MEDLINE | ID: mdl-12087211

ABSTRACT

The authors analysed retrospectively the clinical and laboratory features of patients hospitalised in a unit of infectious diseases in the period from 1996-99. In particular, the etiology, the antimicrobial susceptibility of responsible microorganisms, criteria utilized for diagnosis, antibiotic courses and outcomes were evaluated and discussed. Echocardiography is an essential tool in the diagnosis. Infective endocarditis remains a serious infection and is still associated with high morbidity and mortality rate, despite appropriate treatment. Seriously ill patients may require prompt surgery.


Subject(s)
Endocarditis/epidemiology , Endocarditis/microbiology , Hospitalization , Adult , Female , Humans , Male , Retrospective Studies
20.
Infez Med ; 9(2): 108-10, 2001 Jun.
Article in Italian | MEDLINE | ID: mdl-12698024

ABSTRACT

The authors evaluated the efficacy and safety of an OPAT program in a small group of patients affected by infective endocarditis. Three patients were considered eligible for the treatment; i.e. they had a stable hemodynamic balance and no embolic events. Streptococcus spp. grew in blood cultures of two patients, while blood cultures were negative in the third patient. Long-acting antibiotics were used and all patients recovered from the infection without adverse events. The treatment was efficacious and safe. This preliminary experience suggests that OPAT programs can be promoted in infective endocarditis with advantage. Strictness and caution are necessary in screening and monitoring patients.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Endocarditis/drug therapy , Endocarditis/microbiology , Adult , Ambulatory Care , Female , Humans , Infusions, Parenteral , Male
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