A Ammenti

Università degli studi di Parma, Parma, Emilia-Romagna, Italy

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Publications (11)14.58 Total impact

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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. · 0.32 Impact Factor
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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.
  • A Ammenti, C Volta, S Bernasconi
    European Journal of Pediatrics 12/1995; 154(11):939-40. · 1.98 Impact Factor
  • G Giovannelli, R Virdis, A Ammenti
    Beiträge zur Infusionstherapie = Contributions to infusion therapy 02/1989; 22:80-94.
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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.
  • 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. · 1.98 Impact Factor
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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.
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    ABSTRACT: We studied BP patterns and the Renin-Angiotensin-Aldosterone axis (RAA) of 97 IDDM children (3-15 yrs old) in relation to the auxological data,the metabolic control and duration of diabetes (1-13 yrs).We analysed a total of 712 BP measurements. RESULTS. Mean systolic BP levels for age groups were at the 50th percentile of the general population,while the mean diastolic BP were at the 75th in both sexes.Systolic and diastolic BP levels were directly and significantly related to age, weight,height,Quetelet index,duration of disease and HbA1. Plasma Renin Activity (PRA) levels,all within normal limits, were related neither to age,Natruria and Kaliuria (contrary to normal children) nor to the parameters of metabolic control. CONCLUSIONS. BP levels were not grossly altered but were under the influence of metabolic control. The absence of a correlation between PRA and age or electrolytes excretion suggest an early disturbance of RAA, probably caused by concomitant metabolic alterations.
    Pediatric Research 01/1984; 18(11). · 2.67 Impact Factor
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    ABSTRACT: TR (measured after 4 days of cryoactivation at -4°C) and PRA were determined by RIA, in the upright position, in 40 NTC (age 7 mo. - 15 yrs) on an "ad libitum" Na diet; 16 of them were obese (overweight > 30%). CR was calculated as TR minus PRA. Applied statistical analysis: non parametric for comparison between samples and parametric for linear first order regression.
    Pediatric Research 01/1981; 15(12). · 2.67 Impact Factor
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    ABSTRACT: PRA varies in children according to age. Sodium intake accounts for no more than 25% of this variation (personal research). The highest values are found in newborns; they, however, show remarkable differences from case to case. Research on 65 mothers and their healthy babies points out the role of labour in determining such differences. PRA is much higher in newborns than in mothers in normal or induced deliveries, whereas it is similar in the case of elective Caesarean section (15.39 vs. 7.47, 13.23 vs. 6.14, 4.70 vs. 5.38 ng/ml/h). PRA levels steadily decrease in the first 5 days after birth in all mothers and in the newborns when not delivered by Caesarean s. In conclusion:1)the newborn is capable of producing large quantities of renin under stimuli triggered off by labour; 2)PRA levels in newborns are greatly affected by the modalities of delivery.
    Pediatric Research 01/1978; 12(2). · 2.67 Impact Factor
  • Panminerva medica 22(4):223-7. · 2.28 Impact Factor