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Biomedical subjects

M Rocchi

Publications and source records attributed to M Rocchi.

At least 253 records · Page 14Linked to original sources

XX male with breast cancer.

We present the case of a 66-year-old XX male who developed breast cancer on the left side at the age of 61. His clinical, endocrinological and cytogenetic features are described. The presence of hypospadias and cancer in the left breast are noteworthy; the latter is very rarely found in Klinefelter syndrome patients. An outline of the pathogenesis of breast cancer in XX male patients is also given. This is the first report of an XX male with breast cancer.

Adenocarcinoma↗

Possible risks of general anesthesia in patients with intraventricular conduction disturbances.

In order to assess the risk of complete AV block in patients with intraventricular conduction disturbances who undergo general anesthesia, 20 patients with various conduction defects (7 LBBB, 1 RBBB and 1st degree AV block, 1 incomplete RBBB, 9 RBBB + LAH and 2 RBBB + LPH) were studied by means of His bundle recording and corrected sinus node recovery time (CSNRT) before and after the subministration of thiopental (0.2 g I.V.), succinylcholine (1 mg/kg I.V.), Fluothane (1%) and Ethrane (1.6%). Nineteen patients displayed signs of dizziness or syncope; both the sinus rate and the CSNRT, did not undergo significant variations. A slight and not significant variation of intranodal conduction during sinus rhythm was observed after Fluothane administration (AH was prolonged by 8%). A less evident negative dromotropic action of thiopental and Ethrane was only revealed by atrial pacing. No significant variations were demonstrated in His-ventricular conduction after administration of the various drugs. The maximum average increase (1.5%) of the H-V interval was observed after administration of succinylcholine. Acute AV block distal to the His bundle appeared in three patients after succinylcholine administration.

Anesthesia, General↗

Dynamic ECG in normal subjects.

A study by dynamic electrocardiography has been carried out for 24 hours on 100 healthy subjects (50 males and 50 females), of ages included between 20 and 70 years. Recording were carried out during an average working day. Average high, mean and low heart rates have been calculated in the 24 hours, at various times of the day, during mental work, physical effort, sexual activity (20 cases) and sleep. Sinus arrhythmias of various degrees (bradycardia, S-A blocks) have been observed overall in 16% of cases. Incidence was higher in younger subjects (12%) as compared with the older group (4%), and during sleep (75%) as compared to periods of wakefulness (25%). Supraventricular and ventricular arrhythmias hae occurred respectively in 20 and 21% of all subjects. Both types of arrhythmias (S.V. and V.) occurred more frequently in older subjects (34 and 32%) as compared to the younger group (10 and 5%). Supraventricular ectopic beats were more frequent during wakefulness (59.3%) rather than during sleep (40.7%); vice-versa, ventricular ectopic beats have been noticed to appear more frequently during sleep (74.5%), than during wakefulness (25.5%). Overall, arrhythmias have not been common (less than 500 ectopic beats/24 hours and less than 50 ectopic beats/hour), and only rarely they were repetitive. During our study we have observed ST changes or upward deviation, but in all cases a definite pathological significance was missing.

Adult↗

X pentasomy: a case and review.

A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.

Aneuploidy↗

Extra small metacentric chromosome identified as i(18p).

A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect.

Chromosome Aberrations↗

Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis.

A 48,XXYY Sardinian patient, born to a 46,XX mother heterozygous for the Gd Mediterranean mutant, and to a 46,XY father hemizygous for the same mutant, was found to have a mosaic distribution of G6PD(+) and G6PD(-) peripheral red blood cells. The most likely interpretation of this finding is that the propositus is an additional example of an XXYY zygote derived from a consecutive meiotic non-disjunction during paternal gametogenesis.

Adult↗

Trisomy 20p from maternal t(3;20) translocation.

A case of trisomy 20p resulting from a maternal translocation t(3;20) is described. QM and BUdR banding techniques were used for its identification. A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment, are the most typical features of the proband.

Child, Preschool↗

[Pacemakers: concerning check-ups (author's transl)].

The Authors have re-examined their case histories of 1503 patients who have had 2459 pacemakers implanted and who have undergone check-ups as outpatients. All the complications which have arisen from 1967 to the present have been taken into consideration. The total number of complications has been found in 355 patients with 14% of the total number of pacemakers and they have been subdivided into 3 groups: 1st group: complications arising during the stay in hospital (110); 2nd group: complications arising after discharge from hospital and discovered by the patient (239); 3rd group: complications found casually during outpatients' check-ups (6). Of the complications found after discharge, 97% belong to the second group and only 3% to the third group. 657 substituted pacemakers have also been taken into consideration with the purpose of finding out the parameters which showed up as the battery was running down. Out of 145 pacemakers substituted because of flat batteries, 130 (90%) have shown brusque variations in the frequency of stimulation, while only 15 (10%) have shown variations in other parameters (width, length of impulse, etc). The Authors therefore retain that a periodic outpatients' check-up of the pacemakers is of little use as regards the patients' safety and the complete utilization of the device, while they advise that the patient be educated so as to be able to carry out his own daily control of the pacemaker.

Bioelectric Energy Sources↗

[The experience in cardiac pacing at the Cardiology Department of St. Camillo Hospital (Rome) (author's transl)].

The experience of the Cardiac Electrostimulation Center of S. Camillo Hospital in Rome on 1503 patients treated with permanent pacemakers for an 11 year period is referred. The Authors analyze the increase of the activity of the Center during these years and some events that caused it. 94.5% of the patients were more than 50 years old; the dominant pathology has been ischemic and idiopathic cardiopathy, which together include 94.7% of the totality. The indication to the implant has been A-V block in 70% of the patients; intraventricular block in 20%; sick sinus syndrome in 10%. In the last years the prophylactic indication has increased (from 0.4% to 4.4%). 2459 pacemakers have been used, of which 79.5% was QRS-inhibit. The mercury prosthesis have been progressively substituted with the lithium ones. 1642 catheters (implant and reimplant) have been used; principally endocardic (95%) and monopolar (85%). The substitution of the catheter has been necessary in 9% of the totality; in 2.6% of the endocardic and in 15.9% of the epimyocardic. Among 50 electrodes, after a period of observation of about 7.7 years, 36 are still in function. The percentage of the complications has been 17.1%; the most important complications have been: dislocation (6%), microdislocation (1.5%), late high threshold (2.1%), failure of catheter (1.2%), generator malfunction (2.3%). The total mortality has been 15.4%; 0.2% caused by deficit of the implant; 2% sudden deaths and 13.2% not depending from the implant; 243 patients (16%) are not to be found. The frequency of out-patients controls has decreased in the last 2 years (from 3.8 controls per years to 1.8).

Aged↗

Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes.

Three cases of morphologic variants of human D- or G-group chromosomes have been studied by N- and Ag-AS banding techniques. The results confirm our previous findings about the localization of nucleolus organizers on the secondary constrictions of acrocentric chromosomes. Preliminary results on the distribution and number of N bands in D- and G-group chromosomes with morphologic and fluorescence variants are reported.

Cell Nucleolus↗

A new translocation involving chromosomes no. 5 and no. 12 t(5;12) (5q15;12p13).

A new case of translocation between chromosomes No. 5 and No. 12 is described. The translocation t(5;12) (5q15;12p13) is apparently balanced and was found in a child aged 3 1/2 years who was affected with severe psychomotor retardation. On the basis of the clinical picture it is suggested that the phenotype could be not dependent on the chromosomal alteration.

Child, Preschool↗

[General anesthesia in patients with intraventricular conduction abnormalities (author's transl)].

This study was undertaken to assess the risk of developing complete heart block during general anesthesia in patients with bundle branch block. His bundle electrograms were recorded during sinus rhythm and after atrail pacing in 11 patients (5 LBBB, 2 RBBB, 3 RBBB and LAH, 1 RBBB and LBH) before and after administration of Pentothal 0.20 g e.v., Succinylcholine 1 mg/kg e.v., and breathing of fluothane 1%or Ethrane. Minimal effects on sinus functions and A-V node conduction was observed during anesthesia; Fluothane only increased slightly AH intervals (+11%). Both Fluothane and Ethrane effects on HV conduction was insignificant. In 9 patients HV intervals increased of 5% after Succinylcholine; 2 patients developed a complete heart block distal to his after the drug. Possible causes of the complete heart block are discussed and a direct effect of Succinylcholine is hypothesized.

Anesthesia, General↗