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Studio molecolare in pazienti con iperplasia surrenale congenitaMenabò, Soara <1978> 11 July 2007 (has links)
No description available.
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Analisi genetica nella sindrome di Ullrich-TurnerNicoletti, Annalisa <1974> 11 July 2007 (has links)
No description available.
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Trasmissione post-natale del citomegalovirus attraverso il latte materno al neonato VLBWCapretti, Maria Grazia <1964> 09 June 2008 (has links)
Introduction
Postnatal human cytomegalovirus (CMV) infection is usually asymptomatic in term babies, while
preterm infants are more susceptible to symptomatic CMV infection. Breastfeeding plays a
dominant role in the epidemiology of transmission of postnatal CMV infection, but the risk factors
of symptomatic CMV infection in preterm infants are unknown.
Patients and Methods
Between December 2003 and August 2006, eighty Very Low Birth Weight (VLBW) preterm
infants (gestational age ≤ 32 weeks and birth weight < 1500 g), admitted to the Neonatal Intensive
Care Unit of St Orsola-Malpighi General Hospital, Bologna were recruited. All of them were
breastfed for at least one month.
During the first week of life, serological test for CMV was performed on maternal blood.
Furthermore, urinary CMV culture was performed in all the infants in order to exclude a congenital
CMV infection.
Urine samples from each infant were collected and processed for CMV culture once a week. Once
every 15 days a blood sample was taken from each infant to evaluate the complete blood count, the
hepatic function and the C reactive protein. In addition, samples of fresh breast milk were processed
weekly for CMV culture. A genetic analysis of virus variant was performed in the urine of the
infected infants and in their mother’s milk to confirm the origin of infection.
Results
We evaluated 80 VLBW infants and their 68 mothers. Fifty-three mothers (78%) were positive for
CMV IgG antibodies, and 15 (22%) were seronegative.
In the seronegative group, CMV was never isolated in breast milk, and none of the 18 infants
developed viruria; in the seropositive group, CMV was isolated in 21 out of 53 (40%) mother’s
milk.
CMV was detected in the urine samples of 9 out of 26 (35%) preterm infants, who were born from
21 virolactia positive mothers. Six of these infants had clinically asymptomatic CMV infection,
while 3 showed a sepsis-like illness with bradycardia, tachypnea and repeated desaturations. Eight
out of nine infants showed abnormal hematologic values.
The detection of neutropenia was strictly related to CMV infection (8/9 infected infants vs 17/53
non infected infants, P<.005), such as the detection of an increase in conjugated bilirubin (3/9
infected infants vs 2/53 non infected infants, P<.05). The degree of neutropenia was not different
between the two groups (infected/non infected).
The use of hemoderivatives (plasma and/or IgM–enriched immunoglobulin) in order to treat a
suspected/certain infection in newborn with GE< 28 ws was seen as protective against CMV
infection (1/4 infected infants vs 18/20 non infected infants [GE<28 ws]; P<.05).
Furthermore, bronchopulmonary dysplasia (defined both as oxygen-dependency at 30 days of life
and 36 ws of postmenstrual age) correlated with symptomatic infection (3/3 symptomatic vs 0/6
asymptomatic: P<.05).
Conclusion
Our data suggest that CMV infection transmitted to preterm newborn through human milk is always
asymptomatic when newborns are clinically stable. Otherwise, the infection can worsen a preexisting
disease such as bronchopulmonary dysplasia.
Human milk offers many nutritional and psychological advantages to preterm newborns: according
to our data, there’s no reason to contraindicate it neither to pasteurize the milk of all the mothers of
preterm infants who are CMV seropositive.
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Le cardiomiopatie nell'infanzia: quadri eziologici ed evolutivi nei primi anni di vitaRagni, Luca <1968> 09 June 2008 (has links)
Premessa: nell’aprile 2006, l’American Heart Association ha approvato la nuova
definizione e classificazione delle cardiomiopatie (B. J. Maron e coll. 2006),
riconoscendole come un eterogeneo gruppo di malattie associate a disfunzione
meccanica e/o elettrica riconducibili ad un ampia variabilità di cause. La
distinzione tra le varie forme si basa non più sui processi etiopatogenetici che ne
sono alla base, ma sulla modalità di presentazione clinica della malattia. Si
distinguono così le forme primarie, a prevalente od esclusivo interessamento
cardiaco, dalle forme secondarie in cui la cardiomiopatia rientra nell’ambito di un
disordine sistemico dove sono evidenziabili anche disturbi extracardiaci. La nostra
attenzione è, nel presente studio, focalizzata sull’analisi delle cardiomiopatie
diagnosticate nei primi anni di vita in cui si registra una più alta incidenza di
forme secondarie rispetto all’adulto, riservando un particolare riguardo verso
quelle forme associate a disordini metabolici. Nello specifico, il nostro obiettivo è
quello di sottolineare l’influenza di una diagnosi precoce sull’evoluzione della
malattia.
Materiali e metodi: abbiamo eseguito uno studio descrittivo in base ad un’analisi
retrospettiva di tutti i pazienti giunti all’osservazione del Centro di Cardiologia e
Cardiochirurgia Pediatrica e dell’ Età Evolutiva del Policlinico S. Orsola-
Malpighi di Bologna, dal 1990 al 2006, con diagnosi di cardiomiopatia riscontrata
nei primi due anni di vita. Complessivamente sono stati studiati 40 pazienti di cui
20 con cardiomiopatia ipertrofica, 18 con cardiomiopatia dilatativa e 2 con
cardiomiopatia restrittiva con un’età media alla diagnosi di 4,5 mesi (range:0-24
mesi). Per i pazienti descritti a partire dal 2002, 23 in totale, sono state eseguite le
seguenti indagini metaboliche: emogasanalisi, dosaggio della carnitina,
metabolismo degli acidi grassi liberi (pre e post pasto), aminoacidemia
quantitativa (pre e post pasto), acidi organici, mucopolisaccaridi ed oligosaccaridi
urinari, acilcarnitine. Gli stessi pazienti sono stati inoltre sottoposti a prelievo
bioptico di muscolo scheletrico per l’analisi ultrastrutturale, e per l’analisi
dell’attività enzimatica della catena respiratoria mitocondriale. Nella stessa seduta
veniva effettuata la biopsia cutanea per l’eventuale valutazione di deficit
enzimatici nei fibroblasti.
Risultati: l’età media alla diagnosi era di 132 giorni (range: 0-540 giorni) per le
cardiomiopatie ipertrofiche, 90 giorni per le dilatative (range: 0-210 giorni)
mentre le 2 bambine con cardiomiopatia restrittiva avevano 18 e 24 mesi al
momento della diagnosi. Le indagini metaboliche eseguite sui 23 pazienti ci
hanno permesso di individuare 5 bambini con malattia metabolica (di cui 2 deficit
severi della catena respiratoria mitocondriale, 1 con insufficienza della β-
ossidazione per alterazione delle acilcarnitine , 1 con sindrome di Barth e 1 con
malattia di Pompe) e un caso di cardiomiopatia dilatativa associata a rachitismo
carenziale. Di questi, 4 sono deceduti e uno è stato perduto al follow-up mentre la
forma associata a rachitismo ha mostrato un netto miglioramento della
funzionalità cardiaca dopo appropriata terapia con vitamina D e calcio. In tutti la
malattia era stata diagnosticata entro l’anno di vita. Ciò concorda con gli studi
documentati in letteratura che associano le malattie metaboliche ad un esordio
precoce e ad una prognosi infausta.
Da un punto di vista morfologico, un’evoluzione severa si associava alla forma
dilatativa, ed in particolare a quella con aspetto non compaction del ventricolo
sinistro, rispetto alla ipertrofica e, tra le ipertrofiche, alle forme con ostruzione
all’efflusso ventricolare.
Conclusioni: in accordo con quanto riscontrato in letteratura, abbiamo visto come
le cardiomiopatie associate a forme secondarie, ed in particolare a disordini
metabolici, sono di più frequente riscontro nella prima infanzia rispetto alle età
successive e, per questo, l’esordio molto precoce di una cardiomiopatia deve
essere sempre sospettata come l’espressione di una malattia sistemica. Abbiamo
osservato, inoltre, una stretta correlazione tra l’età del bambino alla diagnosi e
l’evoluzione della cardiomiopatia, registrando un peggioramento della prognosi in
funzione della precocità della manifestazione clinica. In particolare la diagnosi
eseguita in epoca prenatale si associava, nella maggior parte dei casi, ad
un’evoluzione severa, comportandosi come una variabile indipendente da altri
fattori prognostici. Riteniamo, quindi, opportuno sottoporre tutti i bambini con
diagnosi di cardiomiopatia effettuata nei primi anni di vita ad uno screening
metabolico completo volto ad individuare quelle forme per le quali sia possibile
intraprendere una terapia specifica o, al contrario, escludere disordini che possano
controindicare, o meno, l’esecuzione di un trapianto cardiaco qualora se ne
presenti la necessità clinica.
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Significato prognostico dell'ecografia cerebrale nei neonati con infezione congenita da citomegalovirusVenturi, Valentina <1970> 09 June 2008 (has links)
Background: Congenital cytomegalovirus (CMV) infection may lead to cerebral injury and neurodevelopmental delay. Cranial computed tomography (CT) is currently the standard imaging technique for predicting the outcome of CMV infected patients. Ultrasound (US) is a safe means to assess the extent of cerebral injury due to CMV infection in neonates, and unlike CT, is readily available at the bedside.
Aim: To report the accuracy of US in predicting neurodevelopmental and sensorineural outcome in patients with congenital CMV infection.
Study design: 57 newborns with congenital CMV infection underwent brain US and were followed prospectively for motor skills, developmental quotient and hearing function.
Results: An abnormal US was found in 12/57 newborns. At least one sequela (Developmental Quotient < 85, motor delay, sensorineural hearing loss) was present in 10/11 surviving children with abnormal US (1 patient died in the neonatal period) vs 3/45 newborns with normal US (OR for death or poor outcome: 154, CI 17.3-1219.6, p<0.001, positive predictive value 91.7%, negative predictive value 93.3%).
Conclusion: A good correlation is shown between ultrasound abnormalities and the prediction of outcome, suggesting that US may be used to study and follow CMV infected neonates. Our findings await confirmation in a larger population.
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Il craniofaringioma nel bambino e nell'adolescente. Luci ed ombre durante il follow-upBaronio, Federico <1972> 30 March 2009 (has links)
Introduction. Craniopharyngioma (CF) is a malformation of the hypothalamicpituitary region and it is the most common nonglial cerebral tumor in children with an high overall survival rate. In some case severe endocrinologic and metabolic sequelae may occur during follow up. 50% of patients (pts), in particular those with radical removal of suprasellar lesions, develop intractable hyperphagia and morbid obesity, with dyslypidemia and high cardiovascular risk. We studied the auxological and metabolic features of a series of 29 patients (18 males) treated at a mean age of 7,6 years, followed up in our Centre from 1973 to 2008 with a mean follow up of 8,3 years. Patients features at the onset. 62% of pts showed as first symptoms of disease visual impairment and neurological disturbancies (headache); 34% growth arrest; 24% signs of raised intracranial pressure and 7% diabetes insipidus.
Diagnosis. Diagnosis of CF was reached finally by TC or MRI scans which showed endo-suprasellar lesion in 23 cases and endosellar tumour in 6 cases.
Treatment and outcome. 25/29 pts underwent surgical removal of CF (19 by transcranial approach and 6 by endoscopic surgery); 4 pts underwent stereotactic surgery as first line therapy. 3 pts underwent local irradiation with yttrium-90, 5 pts post surgery radiotherapy. 45% of pts needed more than one treatment procedure.
Results. After CF treatment all patients suffered from 3 or more pituitary hormone deficiencies and diabetes insipidus. They underwent promptly substitutive therapy with corticosteroids, l-thyroxine and desmopressin. In 28/29 pts we found growth hormone (GH) deficiency. 20/28 pts started GH substitutive therapy and 15 pts reached final height(FH) near target height(TH). 8 pts were not GH treated for good
growth velocity, even without GH, or for tumour residual. They reached in 2 cases FH over TH showing the already known phenomenon of growth without GH. 38% of patients showed BMI SDS >2 SDS at last assessment, in particular pts not GH treated (BMI 2,5 SDS) are more obese than GH treated (BMI 1,2 SDS). Lipid panel of 16 examined pts showed significative differencies among GH treated (9 pts) and not treated (7 pts) with better profile in GH treated ones for Total Cholesterol/C-HDL and C-LDL/C-HDL. We examined intima media thickness of common carotid arteries in 11 pts. 3/4 not GH treated pts showed ultrasonographic abnormalities: calcifications in 2 and plaque in 1 case. Of them 1 pt was only 12,6 years old and already showed hypothalamic obesity with hyperphagia, high HOMA index and dyslipidemia. In the GH treated group (7) we found calcifications in 1 case
and a plaque in another one. GH therapy was started in the young pt with carotid calcifications, with good improvement within 6 months of treatment. 5/29 pts showed hypothalamic obesity, related to hypothalamic damage (type of surgical treatment, endo-suprasellar primitive lesion, recurrences). 48% of patients recurred during follow up ( mean time from treatment: 3 years) and underwent, in some cases up to 4 transcranial surgical treatments. GH seems not to increase
recurrence rate since 40% of GH treated recurred vs 66,6% of not GH treated pts.
Discussion. Our data show the extereme difficulties that occur during follow up of craniopharyngioma treated patients. GH therapy should be offered to all patients even
with good growth velocity after CF treatment, to avoid dislypidemia and reduce cardiovascular risk. The optimal therapy is not completely understood and whether gross tumor removal or partial surgery is the best option remains to be decided only on one patient tumour features and hypothalamic involvement. In conclusion the gold standard treatment of CF remains complete tumour removal, when feasible, or partial resection to preserve hypothalamic function in endosuprasellar large neoplasms.
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Apnea e reflusso gastroesofageo nel neonato pretermineGualdi, Silvia <1975> 30 March 2009 (has links)
Objective: To document the existence of a relationship between apnea of prematurity (AOP) and gastroesophageal reflux (GER) in preterm infants.
Setting: One Neonatal Intensive Care Unit
Patients: Twenty-six preterm infants (gestational age<32 weeks) with recurrent apneas.
Intervention: Simultaneous and synchronized recording of polysomnography and pH-impedance monitoring (pH-MII). Polysomnography detects and characterizes apneas, by recording of breathing movement, nasal airflow, electrocardiogram, pulse oximeter saturation. pH-MII is the state-of-theart methodology for GER detection in preterm newborns.
Main outcome measures: Relationship between AOP and GER, which were considered temporally related if both started within 30 seconds of each other.
Results: One-hundred-fifty-four apneas out of 1136 were temporally related to GER. The frequency of apnea during the one-minute time around the onset of GER was significantly higher than the one detected in the GER-free period (p=0.03). Furthermore, the frequency of apnea in the
30 seconds after GER (GER-triggered apneas) was greater than that detected in the 30 seconds before (p=0.01). A great inter-individual variability was documented in the proportion of GERtriggered apneas. A strong correlation between total number of apneas and the difference between
apneas detected 30 seconds after and before GER was found (p=0.034).
Conclusions: Our data show that a variable rate of apneas can be triggered by GER in very preterm infant. Further studies are needed to recognise clinical features which identify those patients who are more susceptible to GER-triggered apneas.
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Valutazione del danno ipossico-ischemico cerebrale nel neonato a termine mediante spettroscopia di risonanza magnetica ed elettroencefalogramma ad integrazione di ampiezza dopo trattamento ipotermico: studio caso-controlloSoffritti, Silvia <1974> 30 March 2009 (has links)
No description available.
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Validazione e applicazioni cliniche della metodica NIRA (Near Infrared Reflectance Analysis) per la valutazione del contenuto nutrizionale del latte materno in terapia intensiva neonatalePaoletti, Vittoria <1973> 30 March 2009 (has links)
Phase 1: To validate Near-Infrared Reflectance Analysis (NIRA) as a fast, reliable and suitable method for routine evaluation of human milk’s nitrogen and fat content.
Phase 2: To determine whether fat content, protein content and osmolality of HM before and after fortification may affect gastroesophageal reflux (GER) in symptomatic preterm infants.
Patients and Methods: Phase 1: 124 samples of expressed human milk (55 from preterm mothers and 69 from term
mothers) were used to validate NIRA against traditional methods (Gerber method for fat and Kjeldhal method for nitrogen).
Phase 2: GER was evaluated in 17 symptomatic preterm newborns fed naïve and fortified HM by combined pH/intraluminal-impedance monitoring (pH-MII). HM fat and protein content was analysed by a Near-Infrared-Reflectance-Analysis (NIRA). HM osmolality was tested before and
after fortification. GER indexes measured before and after fortification were compared, and were also related with HM fat and protein content and osmolality before and after fortification.
Results: Phase 1:
· A strong agreement was found between traditional methods’ and NIRA’s results (expressed as g/100 g of milk), both for fat and nitrogen content in term (mean fat content: NIRA=2.76; Gerber=2.76; mean nitrogen content: NIRA=1.88; Kjeldhal =1.92) and preterm (mean fat content: NIRA=3.56; Kjeldhal=3.52; mean nitrogen content: NIRA=1.91; Kjeldhal =1.89) mother’s milk.
· Nitrogen content of the milk samples, measured by NIRA, ranged from 1.18 to 2.71 g/100 g of milk in preterm milk and from 1.48 to 2.47 in term milk; fat content ranged from 1.27 to 6.23 g/100 g of milk in preterm milk and from 1.01 to 6.01 g/100 g of milk in term milk.
Phase 2:
· An inverse correlation was found between naïve HM protein content and acid reflux index
(RIpH: p=0.041, rho=-0.501).
· After fortification, osmolality often exceeded the values recommended for infant feeds;
furthermore, a statistically significant (p<.05) increase in non acid reflux indexes was observed.
Conclusions: NIRA can be used as a fast, reliable and suitable tool for routine monitoring of macronutrient content of human milk. Protein content of naïve HM may influence acid GER in preterm infants. A standard fortification of HM may worsen non acid GER indexes and, due to the extreme variability in HM composition, may overcome both recommended protein intake and HM osmolality. Thus, an individualized fortification, based on the analysis of the composition of naïve HM, could optimize both nutrient intake and feeding tolerance.
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Le risorse del latte umano e il suo trattamento (il contenuto del DHA nel latte materno pre e post pastorizzazione Holder)Marvulli, Lucia <1975> 12 April 2010 (has links)
No description available.
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