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P Galluzzi

Publications and source records attributed to P Galluzzi.

15 recordsLinked to original sources
PubMed2003

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Abnormalities, Multiple↗
PubMed2001

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria.

Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital microcephaly, congenital cerebral calcification, spasticity and seizures are the main clinical features, and have been present in almost all patients reported so far. On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients. Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.

Brain↗
PubMed2001

Coats disease: smaller volume of the affected globe.

PURPOSE: To determine whether a significant smaller volume of the affected globe, compared with that of the normal globe, is an additional feature of Coats disease. MATERIALS AND METHODS: Ocular globe volume was assessed in 13 children (11 boys, two girls; age range, 0.6-14 years; mean age, 4.1 years) with Coats disease and in 18 (eight boys, 10 girls; age range, 0.5-12 years; mean age, 3.6 years) with unilateral retinoblastoma. Orbital computed tomographic scans were available for all children; magnetic resonance images were available for 11 children-seven with Coats disease and four with retinoblastoma. For volume estimation, anteroposterior and equatorial diameters of ocular globes were measured. Statistical analysis was conducted with univariate and multivariate methods. RESULTS: In children with Coats disease, the mean volume of the affected globe was 4,877.03 mm(3) (range, 2,951.47-6,284.70 mm(3)) and that of the normal globe, 6,018.00 mm(3) (range, 4,062.32-7,509.26 mm(3)). In children with retinoblastoma, the mean volume of the affected globe was 4,557.06 mm(3) (range, 1,612.01-7,463.00 mm(3)) and that of the normal globe, 4,402.11 mm(3) (range, 1,360.46- 7,463.00 mm(3)). The Coats disease population had a significantly smaller volume of the affected globe (z = -3.1009; P =.002); the retinoblastoma population did not have a statistically significant trend toward a bigger affected globe volume (z = -1.7064; P =.088). The difference between the affected globe volume and the normal globe volume in children with Coats disease was the only significant independent variable (P =.005). CONCLUSION: A significantly smaller volume of the affected globe is an additional feature of Coats disease.

Adolescent↗
PubMed2001

MR brain imaging of fucosidosis type I.

SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.

Atrophy↗
PubMed1999

MRI of Wolfram syndrome (DIDMOAD).

Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo.

Atrophy↗
PubMed1996

Celiac disease with cerebral calcium and silica deposits: x-ray spectroscopic findings, an autopsy study.

An increased incidence of seizures and cerebral calcifications, usually bilateral and located in the occipital cortex, has been reported in celiac patients. The histology of cerebral lesions is not well defined, and their pathogenesis is only speculative. We report the autopsy results of a patient with celiac disease, seizures, and cerebral calcifications who died following a cerebral hemorrhage caused by Fisher-Evans syndrome. Calcifications were restricted to the cortical gray matter and composed of aggregates of small calcified spicules. Calcium deposition was present as psammoma-like bodies, along small vessels, and within neurons. X-ray spectroscopy of the calcified areas revealed that calcium (43%) and silica (57%) were present in the lesions. High silica content was also found in the cerebral hemorrhagic fluid. Silica toxicity has to be considered in regard to the pathogenesis of the cerebral lesions and of the seizures.

Autopsy↗
PubMed1994

[Incidence and prevalence of anti-HVC antibodies and HBV markers in patients undergoing extracorporeal hemodialysis].

OBJECT: To assess the prevalence and the incidence of the anti-HCV and HBV markers in extracorporeal dialysis patients. METHOD: From 1990 to 1993, every six months, anti-HCV and anti-HBV markers were determined in 88 dialyzed patients, in 24 health workers from the Nephrology and Dialysis Departments and checked with 4143 blood donors. ALT values were also checked monthly. RESULTS: A 13.6 prevalence of anti-HCV was found while no new anti-HCV case was seen in the three-year observation period. Data referring to HBV infection were affected by vaccination. Statistical survey has shown a significant relation between anti-HCV and blood transfusions and between anti-HBV infection and duration of dialysis. The incidence of HCV infection was 4.1% among health workers who were all HBV vaccinated in the year before the research. COMMENT: We strongly recommend the observance of such rules as hygiene and prophylaxis, disinfection, sterilization and the use of disposable material. Also, a reduction of the number of transfusions seems to cut down the incidence of hematic infections.

Female↗
PubMed1989

[Epidemiology of hepatitis B virus infection in the personnel of a psychiatric hospital].

The prevalence of Hepatitis B Virus (HBV) markers was studied in 350 staff members from a Psychiatric Hospital, where a high prevalence of HBV markers was observed among patients. The prevalence of HBsAg, anti-HBs plus anti-HBc, anti-HBc alone and anti-HBs alone were determined to be: 2%, 15.1%, 4% and 0.3%, respectively. The prevalence of HBV markers was greater (although not significant) among women (24.7%) as compared to men (17.8%) (p greater than 0.05), and in the personnel with more than 20 years of employment (24.1%), as compared to those with less than 20 years (20% (p greater than 0.05). The highest prevalence of infection was observed in the department in which were admitted children and young adults. The overall prevalence of HBV markers was higher among staff members than in the blood donors of our area. Hospital personnel must know such epidemiologic conditions: active immunization with the Hepatitis B vaccine must be offered to hospital employees, firstly in those institutions in which a high prevalence of HBV infection has been documented.

Adult↗
PubMed1978

[Not Available].

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History, Early Modern 1451-1600↗
PubMed1970

[Not Available].

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History, Early Modern 1451-1600↗
PubMedDate not supplied

Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.

Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.

Bone and Bones↗
PubMedDate not supplied

[A case of erythema nodosum in tularemia].

Since 1980 some epidemics of tularemia occurred, involving large areas of Tuscany (Italy). Among the different clinical features described in the classic form of tularemia, erythema nodosum never has been reported. One case of erythema nodosum, the first reported in course of tularemia, is described. The correct diagnosis is based on careful question about exposure to mammals and ticks. The importance of early treatment is stressed.

Adult↗