[A clinical and cytogenetic study of 50 women with Turner's syndrome. Considerations of the problem of pregnancies in these patients. Part 2].

The results of a study on 50 patients with Turner syndrome, all of them older than 14 years and never treated, are reported. In order to correlate karyotypes and clinical manifestations of the syndrome, we performed a complete physical examination and ultra sonographic tests of the heart, kidneys, uterus and ovaries. We found a better spontaneous growth and sexual maturation in mosaic 45.

[Benign recurrent intrahepatic cholestasis. Description of a clinical case].

We present the clinical case of an 8 years old boy affected by episodes of severe recurrent jaundice, preceded by intense itching with clinical and biochemical signs of cholestasis, diagnosed as benign recurrent intrahepatic cholestasis (B.R.I.

[Vaccination against hepatitis B in childhood as possible means of infection control].

A follow-up of 21 months was conducted in order to evaluate the efficacy of vaccination against Hepatitis B Virus in a group of 54 children (age 2-14) belonging to family cluster characterized by the presence of HBsAg healthy carriers. HB-VAX, plasma-derived, and Engerix B, by a recombinant DNA technique, were both employed and administered with the following schedule: three doses of 0, 1 and 6 months. Out of 54 subjects, 48 completed the follow-up.

Fibrodysplasia ossificans progressiva. An 11-year-old boy treated with a diphosphonate.

Fibrodysplasia ossificans progressiva (FOP) is a severe, rare, autosomal dominant, ectopic ossifying condition, with primary involvement of the skeletal muscles associated with skeletal abnormalities. This report concerns an 11-year-old boy suffering from FOP, who presented significant modification of the musculoskeletal structure of the thorax and problems with articular movements. The patient showed progress after treatment with ethane-1-hydroxy-1,1-diphosphonate (EHDP).

[Multicentric reticulohistiocytosis (lipoid dermato-arthritis). A radiologic study of 3 cases].

The authors report their experience with 3 cases of multicentric reticulohistiocytosis observed over 6 years of outpatient radiological practice. The condition presents with the following radiological patterns: 1) clear-cut erosions of the articular surfaces, especially in the distal interphalangeal joints of the hands and in the metatarso-phalangeal joints of the feet, with symmetrical distribution (not necessarily); 2) osteolytic punched-out areas in the epiphyseal spongiosa, ranging in size from 1 mm to over 1 cm; 3) no osteoporosis, no osteo-proliferative or periosteal reactions, not even in the presence of large osteoarticular destructions; 4) frequent atlanto-epistropheal subluxation; 5) articular ankylosis at the sacroiliac joints only. The association of the above patterns and the relatively benign clinical course distinguish multicentric reticulohistiocytosis from rheumatoid arthritis, psoriasis arthritis, erosive osteoarthritis, and gout.

[Neurological complications of Mycoplasma pneumoniae infection. Description of a case of meningitis with clear cerebrospinal fluid].

Mycoplasma pneumoniae (M.p.) is generally responsible of upper and lower respiratory tract infections in children in school age; in about 2% of cases can be also considered the cause of a NS infection: meningitis, encephalitis, cerebellitis, transverse myelitis and ascending polyradiculitis.

[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report].

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present.

[Description of a case of Meckel's diverticulum and chronic anemia in a 4-year-old boy].

The case of a boy of 4 years 6 months suffering from Meckel's diverticulum (M.D.) and chronic anaemia is reported.

[Extrapyramidal type collateral effects of the administration of metoclopramide to children].

Metoclopramide (M.) is a neurolectic drug used with good results in digestive tracts disorders. Even in minimum doses Metoclopramide may cause side effects to children.

[Chronic normocalcemic constitutional tetany: clinic and etiopathogenic aspects. Description of a case].

Tetany is a state of hyperexcitability of the central and peripheral nervous system due to abnormal concentrations of serum electrolytes. However tetanic individuals without any detectable abnormalities, are also encountered. This last condition has been named "chronic normocalcemic tetany or spasmophilia".

[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

Childhood enteritis: a community study.

The population aged 0-12 years living in the area of an Italian Local Health Unit (about 8,800 children) was studied for one year in order to estimate the overall incidence rate of enteritis and the incidence rates of diarrheas from bacterial agents. All children complaining of acute diarrhea and seen by the pediatric practices of the study area were recorded by date, age, and sex; the microbiological study of stools was performed for a sample of patients. All hospitalized cases of childhood enteritis occurring in the same period in the study population were studied too.

[Cardiac arrhythmias and mitral valve prolapse in childhood. Therapeutic considerations].

Our report concerns 18 cases of mitral valve prolapse, all documented by M-mode and D2-mode echocardiographic study. Of these patients three presented severe cardiac arrhythmias and therefore therapeutic treatment was necessary. One of them presented repeated episodes of paroxysmal supraventricular tachycardia and premature supraventricular and ventricular contractions.

Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).

A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).

Herpes zoster treatments: results of a clinical trial relative to the use of rifamycin SV versus neuramide.

The authors describe a controlled clinical study in which rifamycin SV 250 mg intramuscularly and topical b.i.d.

Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.

A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed.