13 results on '"Grumieri G"'
Search Results
2. Mild fetal hydronephrosis indicating vesicoureteric reflux.
- Author
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Marra, G, primary, Barbieri, G, additional, Moioli, C, additional, Assael, B M, additional, Grumieri, G, additional, and Caccamo, M L, additional
- Published
- 1994
- Full Text
- View/download PDF
3. [Acute acalculous cholecystitis as a complication of hepatitis A: report of 2 pediatric cases]
- Author
-
Fuoti M, Pinotti M, Miceli V, Mc, Villa, Celano MR, Amoruso C, Grumieri G, Carnelli V, and Gabriella Nebbia
- Subjects
Male ,Acalculous Cholecystitis ,Treatment Outcome ,Adolescent ,Acute Disease ,Serratia liquefaciens ,Humans ,Female ,Hepatitis A ,Child ,Anti-Bacterial Agents ,Serratia Infections ,Ultrasonography - Abstract
Acute acalculous cholecystitis (CAA) is very rare in children and it is usually related to infectious agents. We report 2 paediatric cases of CAA complicating hepatitis type A, with a favourable evolution with conservative treatment.
4. Phenotypic variability in Bartter syndrome type I
- Author
-
Carla Navone, Milvia Cecconi, Michele Sacco, Gianpaolo Grumieri, Cristina Curcio, Alberto Bettinelli, Augusto Rosini, Giuseppe Ruffa, Giovanna Leozappa, Silvana Tedeschi, Aldo Claris Appiani, Sonia Ciarmatori, Giorgio Casari, Layla Cesareo, Silvana Binda, Marie Louise Syren, Bruno Mercuri, Bettinelli, A, Ciarmatori, S, Cesareo, L, Tedeschi, S, Ruffa, G, Appiani, Ac, Rosini, A, Grumieri, G, Mercuri, B, Sacco, M, Leozappa, G, Binda, S, Cecconi, M, Navone, C, Curcio, C, Syren, Ml, and Casari, GIORGIO NEVIO
- Subjects
Male ,medicine.medical_specialty ,Alkalosis ,endocrine system diseases ,Sodium-Potassium-Chloride Symporters ,Molecular Sequence Data ,Metabolic alkalosis ,Mutation, Missense ,Gene mutation ,urologic and male genital diseases ,Bartter syndrome ,Gastroenterology ,Hyperchloremia ,Renal tubular dysfunction ,Internal medicine ,medicine ,Humans ,Hypercalciuria ,Amino Acid Sequence ,Child ,business.industry ,Bartter Syndrome ,Infant ,medicine.disease ,Endocrinology ,Phenotype ,Nephrology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Nephrocalcinosis ,business ,Carrier Proteins - Abstract
Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with hypercalciuria and nephrocalcinosis, we identified new mutations consistent with a loss of function of the mutant allele of the BSC gene in five. Three of the five cases with BSC gene mutations were unusual due to the absence of hypokalemia and metabolic alkalosis in the first years of life. The diagnosis of incomplete distal renal tubular acidosis was considered before molecular evaluation. Three additional patients with hypokalemia and hypercalciuria. but without nephrocalcinosis in the first two and with metabolic acidosis instead of alkalosis in the third, were studied. Two demonstrated the same missense mutation A555T in the BSC gene as one patient of the previous group, suggesting a single common ancestor. The third patient presented with severe hypernatremia and hyperchloremia for about 2 months, and a diagnosis of nephrogenic diabetes insipidus was hypothesized until the diagnosis of Bartter syndrome type I was established by molecular evaluation. We conclude that in some patients with Bartter syndrome type I, hypokalemia and/or metabolic alkalosis may be absent in the first years of life and persistent metabolic acidosis or hypernatremia and hyperchloremia may also be present. Molecular evaluation can definitely establish the diagnosis of atypical cases of this complex hereditary tubular disorder, which, in our experience, may exhibit phenotypic variability.
- Published
- 2000
5. [Acute acalculous cholecystitis as a complication of hepatitis A: report of 2 pediatric cases].
- Author
-
Fuoti M, Pinotti M, Miceli V, Villa MC, Celano MR, Amoruso C, Grumieri G, Carnelli V, and Nebbia G
- Subjects
- Acalculous Cholecystitis diagnostic imaging, Acalculous Cholecystitis drug therapy, Acute Disease, Adolescent, Anti-Bacterial Agents therapeutic use, Child, Female, Humans, Male, Serratia Infections diagnostic imaging, Serratia Infections drug therapy, Treatment Outcome, Ultrasonography, Acalculous Cholecystitis microbiology, Acalculous Cholecystitis virology, Hepatitis A complications, Serratia Infections complications, Serratia liquefaciens isolation & purification
- Abstract
Acute acalculous cholecystitis (CAA) is very rare in children and it is usually related to infectious agents. We report 2 paediatric cases of CAA complicating hepatitis type A, with a favourable evolution with conservative treatment.
- Published
- 2008
6. Clinical quiz. Mesenchymal hamartoma.
- Author
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Roggero P, Carissimi E, Pozzi E, Cataliotti E, Santus F, Piemontese P, Grumieri G, Gridelli B, and Carnelli V
- Subjects
- Hamartoma pathology, Hamartoma surgery, Hepatectomy, Humans, Infant, Liver Diseases pathology, Liver Diseases surgery, Male, Secondary Prevention, Tomography, X-Ray Computed, Hamartoma diagnosis, Liver Diseases diagnosis
- Published
- 2003
- Full Text
- View/download PDF
7. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.
- Author
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Sforzini C, Milani D, Fossali E, Barbato A, Grumieri G, Bianchetti MG, and Selicorni A
- Subjects
- Adolescent, Adult, Calcium blood, Calcium urine, Child, Child, Preschool, Creatinine blood, Female, Glomerular Filtration Rate, Humans, Infant, Kidney Function Tests, Male, Ultrasonography, Calcium metabolism, Homeostasis physiology, Kidney diagnostic imaging, Williams Syndrome diagnostic imaging, Williams Syndrome metabolism
- Abstract
Renal ultrasound scan, circulating creatinine and calcium, and the urinary calcium excretion rate were investigated in 57 patients with clinically and genetically typical Williams-Beuren syndrome (25 female and 32 male subjects, aged from 1.0 year to 23 years, median 8.5 years) on regular follow up at our institution. Twenty-three unilateral abnormalities were detected in 20 patients: pelvic dilatation ( n=6), renal hypoplasia ( n=5), isolated renal cyst ( n=3), kidney surface irregularity ( n=3), kidney duplication ( n=2), renal agenesis ( n=1), megaureter ( n=1), pelvic kidney dystopia ( n=1), and renal stone ( n=1). Both infantile hypercalcemia and nephrocalcinosis was absent in the 57 patients. Mild hypercalcemia was noted in 1 and mild hypercalciuria in 2 patients after the 1st year of life. In conclusion, the study indicates the frequent occurrence of intrinsic renal tract abnormalities detected by ultrasonography in Williams-Beuren syndrome. However, the study does not confirm the importance given in the past to the occurrence of hypercalcemia and hypercalciuria.
- Published
- 2002
- Full Text
- View/download PDF
8. Phenotypic variability in Bartter syndrome type I.
- Author
-
Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani AC, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren ML, and Casari G
- Subjects
- Amino Acid Sequence genetics, Carrier Proteins genetics, Child, Child, Preschool, Female, Humans, Infant, Male, Molecular Sequence Data, Mutation, Missense genetics, Phenotype, Sodium-Potassium-Chloride Symporters, Bartter Syndrome genetics
- Abstract
Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with hypercalciuria and nephrocalcinosis, we identified new mutations consistent with a loss of function of the mutant allele of the BSC gene in five. Three of the five cases with BSC gene mutations were unusual due to the absence of hypokalemia and metabolic alkalosis in the first years of life. The diagnosis of incomplete distal renal tubular acidosis was considered before molecular evaluation. Three additional patients with hypokalemia and hypercalciuria, but without nephrocalcinosis in the first two and with metabolic acidosis instead of alkalosis in the third, were studied. Two demonstrated the same missense mutation A555T in the BSC gene as one patient of the previous group, suggesting a single common ancestor. The third patient presented with severe hypernatremia and hyperchloremia for about 2 months, and a diagnosis of nephrogenic diabetes insipidus was hypothesized until the diagnosis of Bartter syndrome type I was established by molecular evaluation. We conclude that in some patients with Bartter syndrome type I, hypokalemia and/or metabolic alkalosis may be absent in the first years of life and persistent metabolic acidosis or hypernatremia and hyperchloremia may also be present. Molecular evaluation can definitely establish the diagnosis of atypical cases of this complex hereditary tubular disorder, which, in our experience, may exhibit phenotypic variability.
- Published
- 2000
- Full Text
- View/download PDF
9. [AIDS in childhood].
- Author
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Bellini F, Plebani A, Barbaccia P, Bolzoni S, Grumieri GP, and Pavesi MA
- Subjects
- Child, Female, Humans, Infant, Male, Radiography, Acquired Immunodeficiency Syndrome complications, Acquired Immunodeficiency Syndrome diagnostic imaging
- Abstract
HIV infection in infants is transmitted through the placenta. Antibodies reduce and annul in nearly 18 months: HIV + subjects older than 18 months are considered as infected and divided into two classes--i.e., P1: infected and P2: AIDS. The most interesting clinical and diagnostic imaging findings are reported relative to 209 babies who were born HIV + and followed-up with clinical and laboratory tests plus chest films, brain and abdomen US to assess the presence of changes and their evolution features. The following conclusions have been drawn: 1) in their early life, HIV + subjects are especially liable to the action of bacteria, viruses and protozoa: their respiratory system is easily affected with acute, recurring and/or chronic inflammations which are frequently associated with heart enlargement from dilatative cardiomyopathy. Bacterial inflammations are characterized by single or multiple opacities, with blurred and irregular patterns, which are frequently confluent in areas of inhomogeneous opacity. The diagnosis of virus and protozoa infections is more difficult because of their radiologic patterns--i.e., linear fan-like opacities, small shadow areas, enlarged hila. In some cases radiology demonstrates only or mostly lung hyperexpansion, with no opaque images, which however does not exclude the presence of severe and diffuse bronchioloalveolar and interstitial compromission with high-grade pulmonary insufficiency. The common association of cytomegalovirus and Pneumocystis carinii infections with slow-evolution changes and frequent recurrences appears on radiologic images as diffuse and blurred shadows and irregular cotton-like opacities. 2) Brain and abdomen US scans in the newborn show no particular changes, while in the following months both US and CT demonstrate hydrocephalic, atrophic and hemorrhagic changes. 3) In both early and late infancy, lung infections are mostly caused by pneumocystis and cytomegalovirus. Chronic interstitial lymphocyte pneumonia is a peculiar finding with punctiform images in the bases of lung and spreading craniocaudally with similar features to miliary tuberculosis. Different than in the adult, in our series of 209 infants no tubercular abnormalities were observed: in one patient only an active primary complex was demonstrated with broncholavage. Candida infections were observed in 3 patients in their late infancy. Hepatopancreatic and lymph node changes suggesting probably evolving inflammation were uncommon in our series; this condition must be followed-up and checked over time.
- Published
- 1994
10. [Hepatobiliary ascaridiasis in childhood: echographic diagnosis].
- Author
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Bellini F, Bertolotti J, Conci R, Grumieri G, and Urrutia A
- Subjects
- Age Factors, Ascaridiasis pathology, Bile Duct Diseases diagnostic imaging, Bile Duct Diseases pathology, Biliary Tract Diseases pathology, Child, Child, Preschool, Female, Humans, Infant, Liver pathology, Liver Diseases, Parasitic pathology, Male, Ultrasonography, Ascaridiasis diagnostic imaging, Biliary Tract Diseases diagnostic imaging, Liver Diseases, Parasitic diagnostic imaging
- Abstract
Ascaris lumbricoides infestation in the liver and biliary tract causes various clinical manifestations due to the migration of larvae and adult organisms. Parasites in the bile ducts cause obstruction and such complications as cholecystitis, cholangitis and liver abscesses. We report the US findings of biliary ascaridiasis as observed in a series of 13 children over a 3-year period. The patients (6 females and 7 males) presented hepatosplenomegaly, abdominal distension, right subcostal pain; 3 of 13 exhibited subicteric features and fever. The US features of Ascaris lumbricoides infestation are: hyperechoic linear images due to parasites within the dilated bile ducts, target images; mobile hyperechoic linear images within the gallbladder; intrahepatic abscesses with different features and sizes. Microscopic sections of hepatic tissue show inflammatory infiltration around the Ascaris eggs. Emergency surgery is sometimes to be performed. The value of US, as we assessed it, has been already stressed by other authors.
- Published
- 1992
11. [Isolated pulmonary actinomycosis].
- Author
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Grumieri GP, Ferrozzi G, Mauri G, and Mauri A
- Subjects
- Actinomycosis pathology, Actinomycosis surgery, Child, Humans, Lung Diseases pathology, Lung Diseases surgery, Male, Tomography, X-Ray Computed, Actinomycosis diagnostic imaging, Lung Diseases diagnostic imaging
- Published
- 1988
12. [Urethrovesicodeferens reflux in children. Presentation of a case].
- Author
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Grumieri G and Mauri G
- Subjects
- Child, Humans, Male, Radiography, Urethral Obstruction diagnostic imaging, Urinary Bladder Diseases diagnostic imaging, Urination Disorders diagnostic imaging, Vas Deferens diagnostic imaging
- Published
- 1987
13. [Endocardial calcification in neonatal fibroelastosis].
- Author
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Grumieri G, Di Geronimo S, Fesslovà V, and Clerici D
- Subjects
- Adult, Endocardial Fibroelastosis diagnosis, Endocardium pathology, Female, Humans, Infant, Newborn, Male, Pregnancy, Prenatal Diagnosis, Ultrasonography, Calcinosis pathology, Cardiomyopathies pathology, Endocardial Fibroelastosis pathology
- Published
- 1988
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