Mild form of Jeune syndrome in two sisters.

Jeune syndrome is characterized by respiratory distress, osseous dysplasia, and short stature. Patients generally die during the first months of life. However, some cases with milder clinical manifestations have been described; these cases show characteristic renal involvement of different severity. The authors report on two cases of the mild form of Jeune syndrome in sisters.

Gemcitabine monotherapy in elderly patients with advanced non-small cell lung cancer: a multicenter phase II study.

BACKGROUND: This trial investigated the activity and toxicity of gemcitabine in previously untreated elderly (> 70 years) patients with advanced (stage IIIB-IV) non-small cell lung cancer (NSCLC). PATIENTS AND METHODS: From January 1997 to July 1998, 46 patients with advanced NSCLC aged over 70 years with a performance status of 0-2 were entered into the study. Gemcitabine 1000 mg/m2 was administered as a 30-min infusion once a week for 3 weeks followed by a week of rest; cycles were repeated every 4 weeks. RESULTS: Forty-four patients were evaluable for response. One complete response and nine partial responses were observed, for an overall response rate of 22.2% (95% C.I.: 11.3-37.5). The median time to disease progression was 5.1 months (95% C.I.: 3.5-6.7), the median duration of response was 6.3 months, and the median overall survival time 6.75 months (95% C.I.: 5.3-8.2). All patients were evaluable for toxicity (184 cycles, median = 3 cycles/patient) and no grade 4 hematologic toxicities were reported. WHO grade 3 leukopenia, neutropenia and anemia occurred in 3.3, 0.5 and 1.1% of cycles, respectively. Grade 3 skin rash occurred in 4.3% of patients. These side effects led to treatment discontinuation in two patients. CONCLUSION: Our data show that gemcitabine is active and well tolerated in patients aged over 70 years with advanced NSCLC.

Liver triglyceride accumulation after chronic ethanol administration: a possible protective role of metadoxina and ubiquinone.

Hepatoprotective actions of metadoxina and ubiquinone have been studied in alcoholic rats by evaluating hepatic triglyceride accumulation and serum biochemical parameters of liver function. The two drug-treated groups displayed significantly lower triglyceride concentrations as compared to the ethanol-treated group. No significant differences were found among the two drug-treated and the control groups. Electron-microscopic abnormalities were found only in ethanol-treated rats. Serum biochemical parameters of liver function did not show any significant difference among all four groups. These results suggest a possible protective role of metadoxina and ubiquinone in ethanol-induced liver triglyceride accumulation.

[The importance of the clinical record in the follow-up of malformation syndromes]. / L'importanza della cartella clinica nel follow-up delle sindromi malformative.

In view of the pediatrician's need to know the natural history of these patients so as to guarantee appropriate clinical and instrumental follow-up it is necessary to collect information, in a clinical file and in as much detail as possible, on the classic phenotype and the different clinical manifestations of the various syndromes. The aim of this is to identify the most suitable times for applying possible therapy, also bearing in mind the increase in the mean age of these patients.

[Malformation syndromes and deafness]. / Sindromi malformative e sordità.

Deafness is one of the most common clinical findings in patients affected by malformation syndromes. It may be congenital, neurosensory or transmissive in nature, or acquired as the consequence of phlogistic processes due to craniofacial malformations. It is important to identify and classify the hypoacusis in order to start therapy as early as possible, using surgery or prosthesis according to the indications, to avoid the child suffering both verbal and intellectual impairment.

[The therapy of malformation syndromes]. / La terapia nelle sindromi malformative.

The therapeutic possibilities in malformative syndromes are basically surgical, rehabilitative and, in a few cases, pharmacologic. The possibilities of using drugs are limited to some hormonal disorders caused by diencephalic and hypophyseal dysfunctions with clinical signs appearing at the level of the various target organs. The clinical signs most commonly found are hypogonadism, short stature and obesity. The Authors discuss on the opportunity of the use of the growth hormone in syndromic patients with short stature.

[Progressive pseudorheumatoid arthropathy in childhood (late spondylo-epiphysial dysplasia with progressive arthropathy). Description of a case]. / Artropatia progressiva pseudoreumatoide dell'infanzia (displasia spondilo-epifisaria tarda con artropatia progressiva). Descrizione di un caso.

The progressive pseudorheumatoid arthropathy of childhood is a very rare disorder that follows an autosomal recessive mode of inheritance, and which can be framed in the group of the spondyloepiphyseal dysplasia tarda. This affection is characterized by specific radiological anomalies and by clinical signs resembling an inflammatory disease, with the normality of the routine laboratory studies. The authors describe a case recently come to their attention.

[Cohen syndrome. Description of a new case and study of the central nervous system using nuclear magnetic resonance]. / La sindrome di Cohen. Descrizione di un nuovo caso e studio del sistema nervoso centrale mediante risonanza magnetica nucleare.

The Cohen syndrome is characterized by dysmorphic face, obesity, narrow hands and feet and mild mental retardation. So far only 42 cases have been described in literature. The Authors describe a patient who presented some cerebral anomalies at the MRI examination. In particular the MRI showed a large sellar cavity compared to the size of the hypophysis.

Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

The authors report a case of difficult nosological classification. The patient, a 4-year-old female shows facial asymmetry, preauricular tags, anterior displacement of the anus and rib anomalies. Some of these clinical signs are present both in the Goldenhar syndrome and in the Townes-Brocks syndrome.

Morphological studies of the corpus callosum by MRI in children with malformative syndromes.

A morphological analysis of the corpus callosum has been carried out in an MRI study of 34 children with malformative syndromes and 35 normal children. We used a new morphometric method based on measurement of five specific angles. Values outside the range of normality have been found in patients with malformations of the skull, including turricephaly, acrocephaly and frontonasal dysplasia. The results have confirmed the reliability of this method for study of the conformation of the corpus callosum and of its topographical relations with the other cerebral structures.

Double pylorus: report of two cases and review of the literature.

Double pylorus is a rare condition consisting of a double communication between gastric antrum and duodenal bulb; in most cases it is a complication of penetrating ulcer, sometimes it is a congenital abnormality. The prevalence of this rare anomaly ranges from 0.02% to 0.13%; the male:female ratio is about 2:1. Two cases of acquired double pylorus are reported with a review of the literature. The first case represented an occasional report; in the other one the development of double pylorus from confluent prepiloric and bulbar ulcers was documented through serial endoscopies. Both patients were affected with chronic renal failure and referred previous treatment with diclofenac; however, their relationship with double pylorus onset remains unproven.

A randomized study comparing two different schedules of administration of cisplatin in combination with gemcitabine in advanced nonsmall cell lung carcinoma.

BACKGROUND: This randomized trial was designed to investigate the feasibility, toxicity, and activity of two different schedules of gemcitabine plus cisplatin in previously untreated patients with advanced (International Union Against Cancer (UICC) Stage IIIB-IV) nonsmall cell lung carcinoma (NSCLC). METHODS: From February 1997 to September 1998, 82 patients with advanced NSCLC were entered onto the study and were randomized to gemcitabine 1000 mg/m(2) on Days 1, 8, and 15 plus cisplatin 80 mg/m(2) on Day 2 (arm A) or Day 15 (arm B) every 28 days. RESULTS: All the patients were assessable for toxicity (arm A/arm B: 151/177 cycles; median, 4 of 5 cycles per patient), and the following Grade 3-4 toxicities were reported (percentage of cycles in arm A vs. arm B): anemia, 7.9% and 2.3% (P < 0.05); leukopenia, 6.0% and 6.7%; thrombocytopenia, 15.0% and 1.6% (P < 0.01); no World Health Organization (WHO) Grade 3-4 nonhematologic toxicities were observed. These side effects led to gemcitabine dose reductions in 35.1% of courses in arm A and 22.0% of courses in arm B (P < 0.05) and to gemcitabine omissions in 28.5% of courses in arm A versus 7.3% of courses in arm B (P < 0.01). Dose intensities (DIs) of gemcitabine were 607.5 mg/m(2)/week in arm A and 711.6 mg/m(2)/week in arm B (P < 0.01); DIs of cisplatin were 18. 1 mg/m(2)/week in arm A and 18.8 mg/m(2)/week in arm B. The total delivered doses of gemcitabine were 9315.5 mg/m(2) in arm A and 12, 631.0 mg/m(2) in arm B (P < 0.01); the total delivered doses of cisplatin were 277.1 mg/m(2) in arm A and 333.0 mg/m(2) in arm B (P < 0.01). Response rates according to intention to treat were 40.4% (95% confidence interval [CI], 25.5-55.3) in arm A and 45% (95% CI, 29.5-60.5) in arm B. The overall median duration of response was 7.4 months; the median time to disease progression was 6 months (95% CI, 3-9) in arm A and 9 months (95% CI, 4-14) in arm B (P < 0.02); the median overall survival was 10 months (95% CI, 7.0-12.5) in arm A and 17 months (95% CI, 13.0-21.6) in arm B (P < 0.01); the 1-year survival rates were 34% and 63%, respectively. CONCLUSIONS: Our data show that arm B (cisplatin on Day 15) is less toxic than arm A (cisplatin on Day 2) and allows the administration of significantly higher total doses and dose intensities of chemotherapy. No significant differences in response rates were observed between the two schedules; patients on arm B experienced a significantly more prolonged progression free and overall survival; however, the study was not powered to detect differences in these outcomes.