Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.

Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin (AVP) encoded by the AVP-neurophysin II (AVP-NPII) gene on chromosome 20p13. In this study, we analyzed two families with FNDI using direct automated fluorescent, solid phase, single-stranded DNA sequencing of PCR-amplified AVP-NPII DNA. In one of the families, affected individuals presented a novel nonsense mutation in exon 3 of the gene, consisting in a G to T transition at nucleotide 2101, which produces a stop signal in codon 82 (Glu) of NPII. The premature termination eliminates part of the C-terminal domain of NPII, including a cysteine residue in position 85, which could be involved in the correct folding of the prohormone. In the second family, a G279A substitution at position -1 of the signal peptide was observed in all affected individuals. This missense mutation, which replaces Ala with Thr, is frequent among FNDI patients and is thought to reduce the efficiency of cleavage by signal peptidases.

[Rotavirus and seizures. A well-defined uncommon association]. / Rotavirus y crisis convulsivas. Una asociación poco frecuente aunque bien definida.

INTRODUCTION: Rotavirus infection, besides gastrointestinal symptoms, may cause several neurological complications. Among these, are benign convulsions with mild gastroenteritis (CwG). Despite having well defined clinical features, its incidence is not well known. METHODS: We selected discharge diagnoses of acute diarrhea in children aged 1 month to 5 years who were admitted to Donostia Hospital between July 1996 and June 2008. Among them, we selected those cases with concomitant diagnosis of seizure. RESULTS: Rotavirus was detected in 419 of 1114 children hospitalized for gastroenteritis. (39.2%), Five (1.2%) had symptoms compatible with CwG. The episodes occurred between December and January in all cases. The mean age at diagnosis was 19.6 months. The number of seizures per patient was 2.6 (range 1-4). All the crises were short, the longest being 15min. The total duration of the episode was 1.6 days on average, with up to 3 days. Additional tests performed in all cases, were normal. In subsequent follow-up, one child at 26 months had another episode compatible with this entity at 26 months. During the follow-up period, all patients displayed normal psychomotor development with noe recurrence of seizures. CONCLUSION: CwG is a rare entity within all acute gastroenteritis associated with rotavirus, but has very specific clinical features that enable it to be identified which could avoid excessive medical tests, and aggressive treatment.

[Rhabdomyoma of the heart: three case report (author's transl)]. / Rabdomioma cardiaco. Aportación de tres nuevas observaciones.

Authors described three infants under three months of age with cardiac rhabdomyoma observed during a period of eight years. There was no clinical or pathological evidence of tuberous sclerosis. During this period of time they found two cases of tuberous sclerosis, without associated rhabdomyoma, among 2,457 necropsies. On the other hand none of 11 children with tuberous sclerosis under observation in this centre had any clinical evidence of rhabdomyoma. Presenting symptoms of the three cases were cyanosis, heart failure, heart murmurs and alterations of heart rhythm. Diagnosis was suspected on the bases of eco and angiocardiographic studies and was finally confirmed by necropsy. Surgical exeresis of the tumor was attempted in one of the cases, but was not possible because it was too large.

[Incidence of hypernatremic dehydration in acute infantile gastroenteritis]. / Incidencia de la deshidratación hipernatrémica en la gastroenteritis aguda infantil.

A retrospective study on the incidence in our hospital of hypernatremic dehydration was performed. Authors observed a linear decrease both in the frequency of hypernatremic dehydration and in the incidence of hypernatremias above 160 mmol/l, during the 8-year period included in the study. For the past few years a tendency to see affected babies of older age was also observed. We believe that the reasons for these facts are the new dietary habits in infancy feeding and specially the greater use of formulas with low solute and protein content.

[Ebstein's anomaly of the tricuspid valve. Study of 13 cases in childhood]. / Anomalía de Ebstein de la válvula tricúspide. Estudio de 13 casos en la infancia.

We describe 13 cases of Ebstein's anomaly of the tricuspid valve. Seventy percent of there cases were detected at one month of age. Ten patients died and 9 presented associated cardiac anomalies. Signs of right heart failure were the clinical date that made possible the diagnosis of the disease in the most severe cases in the neonatal period. Only two patients had alteration of the cardiac rhythm: One had tachycardia that ended with ventricular fibrillation and the other had a 2:1 heart block. Echocardiography was very useful to establish the diagnosis: one hundred percent of the patients showed a delay in closing of the tricuspid in relation to the mitral valve, with a range of 0,03 to 0,06 seconds. Angiocardiographic studies revealed a tricuspid valve displacement in 8 cases, and double contour image in 6. The septal and posterior leaflets were hypoplasic in the 10 anatomic cases and in 80 percent of them it was possible to differentiate the cords from the papillary muscles.

[Gastroenteritis caused by Campylobacter jejuni in childhood]. / Gastroenteritis por "Campylobacter jejuni" en la infancia.

Fifteen patients with stool growth of "Campylobacter jejuni" are presented. In one case it was associated with growth of "Salmonella typhimurium". Fourteen cases presented as an acute gastroenteritis whereas the remainder case was considered to be an asymptomatic carrier. The incidence was 5.8%. The disease was more frequent in infancy (13 cases occurred in ages below one year). Diarrhea was the most frequent symptom (93.3%), with presence of macroscopic blood in the stool in 78.5% of these cases. In three cases the process was associated to cow's milk protein-sensitive enteropathy. Four patients were treated with erythromycin and the stool culture become negative at the end of therapy. In the untreated cases the stool culture become negative within a period from five to 15 days. In the asymptomatic carrier the stool culture become negative after a period of two months.

[Q fever: epidemic outbreak of the pure febrile form]. / Fiebre Q: brote epidémico de la forma febril pura.

OBJECTIVE: To describe an epidemic of 30 cases of Q fever, none of which had respiratory manifestations. DESIGN: Descriptive study. SITE. General medicine practices in the Billabona Health Centre, which covers the populations of Billabona and Zizurkil. PATIENTS AND OTHER PARTICIPANTS: Thirty patients, 27 men and 3 women, were diagnosed by serology as having Q fever, during and epidemic of a type of fever in Spring 1990. INTERVENTIONS: They were treated with Doxiciclin, taken orally. MAIN MEASUREMENTS AND RESULTS: A general analysis and thoracic x-ray were carried out. The respiratory mechanism was not affected in any case. Transaminases were extremely high in 86% of cases. Other findings were: fever 100%, shivering 83.3%, sweating 96.6%, severe headache 86.7% and myalgia 73.4%. CONCLUSIONS: Faced with pseudoinfluenza symptoms, and in areas with high occurrence of Q fever, we should consider that we could be dealing with cases of Q fever, even when there are no respiratory manifestations.