A Ammenti

Publications (10)9.67 Total impact

• Article: Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

  L Garavelli, S Pedori, R Dal Zotto, F Franchi, M Marinelli, G F Croci, S Bellato, A Ammenti, R Virdis, G Banchini, A Superti-Furga
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  ABSTRACT: Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature.
  Genetic counseling (Geneva, Switzerland) 02/2006; 17(4):449-55. · 0.50 Impact Factor
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  Article: Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

  Livia Garavelli, S Pedori, C Zanacca, G Caselli, A Loiodice, G Mantovani, A Ammenti, Raffaele Virdis, G Banchini
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  ABSTRACT: Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.
  Acta bio-medica: Atenei Parmensis 05/2005; 76(1):45-8.
• Article: "Neonatal variant" of Bartter syndrome presenting with acidosis.

  A Ammenti, S Montali
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  ABSTRACT: An infant is reported with the "neonatal variant" of Bartter syndrome, presenting at 5 weeks of age with metabolic acidosis associated with a life-threatening water and electrolyte depletion. Alkalosis was first shown after 2 weeks of vigorous fluid, sodium, and potassium substitution. We suggest that the extreme fluid and electrolyte losses associated with the "neonatal form" of Bartter syndrome could lead to acidosis more often than previously suspected, and may cause underdiagnosis of a possibly fatal condition.
  Pediatric Nephrology 03/1996; 10(1):79-80. · 2.52 Impact Factor
• Article: No response to growth stimulating treatments in a child with hypercalciuria and short stature (Royer syndrome)

  A Ammenti, C Volta, S Bernasconi
  European Journal of Pediatrics 12/1995; 154(11):939-40. · 1.88 Impact Factor
• Article: The role of the diet in preventing hypertension.

  G Giovannelli, R Virdis, A Ammenti
  Beiträge zur Infusionstherapie = Contributions to infusion therapy 02/1989; 22:80-94.
• Article: [Congenital stenosis of the mid ureter].

  U Beseghi, E Casolarie, G Banchini, A Ammenti, C Ghinelli
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  ABSTRACT: Congenital strictures of the mid ureter of the left side are very rare entities. One case, recently diagnosed and treated, causing hydroureteronephrosis of the upper tract is herein reported. Few similar cases have been recorded in literature reviews: infact, on the right side, or in more cranial or caudal portions, a ureteral narrowing can be found more frequently and often due to aberrant vessels, underlying once more the actual rarity of this entity on the left side. In the present case of congenital stricture of the mid left ureter no extrinsic causes of narrowing were found at operation, confirming the presence of a topic and segmentary anomaly of the muscular portion of the ureteral wall. Surgical treatment led to complete recovery.
  Acta bio-medica: Atenei Parmensis 02/1988; 59(1-2):29-34.
• Article: Infantile cystinosis and insulin-dependent diabetes mellitus.

  A Ammenti, A Grossi, S Bernasconi
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  ABSTRACT: A 13-month-old infant was admitted to our Institution because of difficult metabolic control of diabetes mellitus. Clinical and laboratory findings revealed that the child was affected by both insulin-dependent diabetes mellitus and nephropathic cystinosis. Treatment with indomethacin was associated with growth improvement at an early stage of renal insufficiency, but not in more advanced renal failure.
  European Journal of Pediatrics 01/1987; 145(6):548-9. · 1.88 Impact Factor
• Article: Blood pressure behaviour and control in Turner syndrome.

  R Virdis, M C Cantu, L Ghizzoni, A Ammenti, G Nori, C Volta, C Cravidi, M Vanelli, P Balestrazzi, S Bernasconi
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  ABSTRACT: Adult Turner syndrome (TS) patients frequently present hypertension. To clarify the pathogenesis of this hypertension we examined the blood pressure (BP) behaviour and the renin-angiotensin-aldosterone system in 31 TS patients (2-22 years of age). BP levels were occasionally elevated in 47% of the subjects and constantly elevated in 23%. Most of the patients were on estrogen replacement therapy, but 26% of them presented with elevated levels since childhood. Supine and upright plasma renin activity (PRA) values were higher in TS compared to controls and more elevated in hypertensive TS than in the normotensive ones. At Captopril challenge TS showed different PRA responses regardless of the karyotype and clinical features. Patients on estrogen therapy, however, exhibited higher increments of PRA after Captopril. Conclusions: TS patients show high frequency of hypertension in pediatric age. Estrogen therapy is an outbreaking and worsening factor. An estrogen independent role of the renin-angiotensin-aldosterone system in the pathogenesis of TS hypertension is still uncertain.
  Clinical and experimental hypertension. Part A, Theory and practice 02/1986; 8(4-5):787-91.
• Article: Blood pressure levels related to age and puberal development at adolescence.

  R Virdis, S Bernasconi, M Rocca, F Torelli, M P Libè, A Ammenti, M Vanelli, P Balestrazzi, G Cavagni, G Banchini, B Sartori, G Giovannelli
  Panminerva medica 22(4):223-7. · 1.11 Impact Factor
• Article: Hypercalciuria in osteogenesis imperfecta type I.

  A Ammenti, M Nitsch
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  ABSTRACT: BACKGROUND: In Osteogenesis Imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in Osteogenesis Imperfecta Type I, in which mobility is normal, is still unclear. PATIENT, METHODS AND RESULTS: We describe a patient with Osteogenesis Imperfecta Type I and hypercalciuria, in whom measurement of calcium intake, plasma 1 - 25(OH) (2) Vitamin D, fasting calciuria and tubular proteinuria led us to exclude an absorptive or renal component in the pathogenesis of hypercalciuria. CONCLUSIONS: We believe that hypercalciuria is determined by bone disease in Osteogenesis Imperfecta Type I. This condition should be added to the causes of normocalcemic hypercalciuria in children and the mildest forms should be differentiated from Idiopathic Hypercalciuria.
  Klinische Pädiatrie 215(5):283-5. · 1.77 Impact Factor