PubMed Health⌕ Search

Biomedical subjects

D Montaperto

Publications and source records attributed to D Montaperto.

4 recordsLinked to original sources
PubMed2005

An interesting question of Pompe disease. A case report.

Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultrasonography confirmed the presence of a big heart with an enormous swollen left ventricle and a severe mitralic failure. The clinical diagnosis of infantile Pompe disease was confirmed by the almost total absence of cellular acid a-glucosidase activity but we couldn't perform the assay because of the rapid exitus of our patient, which occurred before glycogen storage disease II was suspected. So, we tried to compare our case with others reported in the literature in order to ratify our diagnostic hypothesis. The contribution of genetic counseling practiced on all the couples at risk remains useful every time that a certain diagnosis is made.

Female↗
PubMedDate not supplied

Mycoplasma pneumonias distribution, epidemiology and prevalence in a triennial survey.

OBJECTIVES: To evaluate: (1) the incidence of pneumonia monthly distribution; (2) the rate of pneumonitis due to Mycoplasma Pneumoniae; (3) the suitability of choosing an empirical-based antibiotic-therapy; (4) the need of a critical revision of Mycoplasma serological data. PATIENTS AND METHODS: We studied 188 patients admitted to the Palermo University Pediatrics Department, from september 1998 to august 2001, with admission diagnosis of pneumonia. RESULTS: The highest incidence of pneumonia was in december and march as in both months 28 cases occurred in the whole period 1998-2001 (average of 9.3 cases per each month). The highest rate of pneumonias by Mycoplasma Pneumoniae was in may with a total number of 11/21 cases (52.3%, average of 3.67 cases per month) in the above mentioned three-year period. CONCLUSIONS: Incidence of Mycoplasma pneumonitis is more represented in subjects that are at school age. Our study confirms the enormous variability of the prevalence of the infection by Mycoplasma Pneumoniae and how difficult it is to make an accurate diagnosis lacking standardized, rapid, specific and comparative methods.

Adolescent↗