Right ventricular cardiomyopathy and sudden death in young people

From 1979 to 1986, we conducted postmortem studies of 60 persons under 35 years of age who had died suddenly in the Veneto Region of northeastern Italy. Unexpectedly, we found that 12 subjects--7 males and 5 females ranging in age from 13 to 30 years--had morphologic features of right ventricular cardiomyopathy. This disorder had not been diagnosed or suspected before the subjects died. In five cases, sudden death was the first sign of disease; the remaining seven subjects had a history of palpitation, syncopal episodes, or both, and in five of those seven, ventricular arrhythmias had previously been recorded on electrocardiographic examination. Ten of the subjects had died during exertion. At autopsy, the subjects' heart weights were normal or moderately increased. Two main histologic patterns were identified--a lipomatous transformation or a fibrolipomatous transformation of the right ventricular free wall (6 cases each); in all cases, the left ventricle was substantially spared. Signs of myocardial degeneration and necrosis, with or without inflammatory infiltrates, were occasionally observed. These findings indicate that right ventricular cardiomyopathy, the cause of which is still unknown, may be more frequent than previously thought. At least in this area of Italy, it may represent an important cause of sudden death among young people.     

Duplication of distal 22q

We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.     

Evaluation of toxic effects following administration of monoclonal antibody MBr1 in patients with breast cancer

Twelve patients with disseminated breast cancer were injected with monoclonal antibody MBr1 at the National Cancer Institute of Milan, Italy, from January 1983 to March 1985. The first seven patients had advanced disease and the remaining five operable breast cancer. In the first seven patients the initial dosage of MBr1 was 0.5 mg and was doubled in the next patient up to 16 mg. The last five women received 10 mg of MBr1. No general side effects such as bronchospasm, hypotension, immediate or delayed allergic reactions were observed. Four patients who were injected with 10 mg or more experienced fever, shudder and vague abdominal and articular pain. The following tests were monitored: R.B.C., W.B.C., percentage of lymphocytes, blood glucose, urea nitrogen and creatinine, serum levels of Na+, K+, Cl-, total proteins levels, albumins and globulins, bilirubin, GOT, GPT, alkaline phosphatase, LDH, amylase, gamma GT and CPK. No major modifications were observed: a limited increase of the transaminases, LDH and gamma GT was evident at the last check. An early temporary alteration of CPK was observed in the four patients who had symptoms. Serum levels of MBr1 are detectable immediately after injection starting from 4 mg, and all sera were negative 48 hours later. It is concluded that the scanty toxicity allows to continue clinical investigations to verify the linkage between MBr1 and Ca-MBr1 "in vivo" after a single injection of no more than 16 mg of the MoAb. The increase of this dosage as well as multiple injections do not seem safe at present.     

Induction of mixed function oxidases by petroleum in the American eel,Anguilla rostrata

American eels,Anguilla rostrata, were exposed to crude oil by ingestion of a 10, 100, or 500 l/kg fish dose per day for five days. Depuration was followed for an additional twelve days. All oil doses caused an induction of hepatic microsomal enzymes, maximally by three days of exposure. Benzo(a)pyrene hydroxylase (BaPH) showed a dose related response, with greater induction at 100 l/kg than at the other doses. The highest dose was hepatotoxic. Cytochrome P-450 induction was dose independent, and remained induced maximally for the entire experimental period, in contrast to BaPH which declined in activity. Reaction optimum for BaPH was at pH 7.5 and 27°C. A study of tissue distribution showed the liver to account for nearly all BaPH activity. A significant increase in the protein content of the hepatic postmitochondrial fraction of oil-exposed fish was also observed.     

慢性肾衰继发性甲旁亢iPTH水平变化的临床意义及罗钙全疗效观察

目的探讨慢性肾功能衰竭(CRF)并发继发性甲状旁腺机能亢进(SHPT)血中全段甲状旁腺激素(iPTH)水平变化的临床意义及小剂量罗钙全对慢性肾衰继发甲旁亢早期的疗效观察。方法分别采用免疫放射法、苦味酸法、偶氮胂Ⅲ法、直接紫外法测定60例健康体检者和94例CRF患者血iPTH、Cr、Ca、P含量;取iPTH含量87.5～295ng/L的SHPT病人随机分为观察组和治疗组各23例,治疗组每天口服罗钙全0.25ug。结果血iPTH水平随肾功能损害的加重而逐渐升高,与Cr成正相关,P亦逐渐升高,Ca则逐渐降低;治疗组服药3个月后,血iPTH显著降低(P<0.05),Ca明显升高(P<0.05),P无显著性差异(P>0.05),观察组血iPTH显著升高(P<0.05)。结论iPTH可作为早期诊断CRF继发性甲旁亢的敏感指标且其水平与肾功能损害程度一致;口服小剂量罗钙全治疗早期SHPT的疗效与iPTH水平有关。     

Enzymatic activity of glycogen metabolism in chorionic villi

Glycogen content and six major enzymatic activities involved in glycogen metabolism were analysed in chorionic villi (CV). Glycogen levels were found to be lower than those known to exist in liver and muscle. Activities of alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase b and phosphorylase kinase were detectable by standard methods. The enzymatic activities of glucose-6-phosphatase and phosphorylase a were undetectable. These findings suggest that CV biopsies can be useful for first-trimester diagnosis of glycogen storage disease types II, III and VI, but not for type I (glucose-6-phosphatase deficiency).     

An algorithmic approach to diagnosis of hypoglycemia

An algorithm has been devised to facilitate the diagnostic approach to the causes of hypoglycemia. This systematic approach enables the physician to reach the final diagnosis in a logical way without subjecting the child to unnecessary and possibly hazardous investigations. The algorithm is based on the following measurements as required by each patient: concentrations of blood glucose, lactate, ketone bodies, and glucose-regulating hormones. These measurements are performed with the patient in the fasting state and after loading tests (glycerol and galactose) as needed. If indicated, an enzymatic test is performed to establish the final diagnosis. Eighteen children aged 1 month to 7 years who had persistent or recurrent hypoglycemia have been examined according to this algorithm. The correct diagnosis was arrived at in 17 patients. The diagnosis was not reached in one neonate who had glucose-6-phosphatase deficiency and initially did not have lactic acidosis; once lactic acidosis developed, his illness fitted perfectly into the algorithm.     

Ablación de taquicardia ventricular asistida con ECMO. Primera experiencia en nuestra institución

Catheter ablation is useful for reducing drug refractory ventricular tachycardia (VT) episodes and can be life-saving when VT is incessant or arrhythmic storm. Left ventricular hemodynamic support may be required in patients with VT and hemodynamic instability. Extracorporeal membrane oxygenation (ECMO) support is an alternative to achieve ventricular tachycardia mapping and ablation over long periods of time. We present a case of successful catheter ablation of substrate in a patient with ischemic heart disease and ventricular tachycardia with hemodynamic instability performed using venous- arterial ECMO support. There were not episodes of ventricular tachycardia after 2 years of follow-up.     

Metronidazole-induced hepatotoxicity in a patient with xeroderma pigmentosum: A case report

Rationale:Whereas metronidazole-induced hepatotoxicity is quite rare in the general population, in individuals carrying a nucleotide excision repair disorder, namely Cockayne syndrome, there is a high risk of developing this complication.Patient concerns:We report the case of a 44-year-old man, affected by xeroderma pigmentosum, who was admitted to the hospital presenting aspiration pneumoniae caused by worsening dysphagia and with severe hepatotoxicity during the hospitalization.Diagnoses:Acute hepatitis, which was leading to acute liver failure, occurred during antibiotic treatment with metronidazole and ceftazidime with an elevation of liver enzymes consistent with hepatocellular damage pattern.Interventions:Hydration with glucose 5% solution, pantoprazole and vitamin K were administered, meanwhile other causes of hepatitis were ruled out and the ongoing antibiotic treatment was stopped suspecting a drug-induced liver injury.Outcomes:Liver function nearly completely recovered 1 month later with a first rapid improvement, within few days, of aminotransferases and coagulation studies, and slower of cholestatic enzymes.Lessons:We describe the first case available in the literature of hepatotoxicity associated with metronidazole treatment in a xeroderma pigmentosum patient. Clinicians therefore, based on this report and according to the possible underlying mechanism shared by other genetic diseases characterized by alterations in the pathway of DNA-repair, should consider such adverse event also in patients affected by this rare disease.