An audit of paediatric dental treatments carried out under general anaesthesia in a sample of Spanish patients.

OBJECTIVE: To evaluate the success and failure rates of the clinical procedures carried out under general anaesthesia in disabled or medically comprised and healthy children. BASIC RESEARCH DESIGN: Retrospective study included 47 patients who received dental treatment under general anaesthesia, grouped according to whether they were disabled or medically compromised (group A, n = 16) or not (group B, n = 31), and subgrouped according to whether they were under or over 6 years of age. RESULTS: Mean duration of anaesthesia was 2 hours and 25 minutes, with a range of 1 to 4 hours. The percentage of children followed up was 87%. The procedures performed were: 105 preformed metal crowns, 142 restorations, 85 pulpotomies and 166 extractions. The success rate was 93% for preformed metal crowns, 96% for pulpotomies and 90% for restorations. CONCLUSIONS: General anaesthesia is necessary in some children, but should be complemented with a preventive programme, behavioural remodelling and a follow-up schedule to avoid having to repeat the use of general anaesthesia.

Estudio clínico de un grupo familiar español con síndrome de Hermansky-Pudlak / Clinical study of a Spanish family with Hermansky-Pudlak syndrome

El síndrome de Hermansky-Pudlak (SHP) es una enfermedad autosómica recesiva rara, en la que están afectadas organelas intracitoplasmáticas como melanosomas, cuerpos densos plaquetarios y lisosomas, y son la causa de albinismo oculocutáneo, diátesis hemorrágica y, en algunos pacientes, depósito de material ceroide en tejidos. Se han descrito 7 genes implicados en el SHP, muchos de ellos codifican proteínas de función desconocida. El SHP es una enfermedad rara; sin embargo, es la enfermedad monogénica más frecuente en el noroeste de Puerto Rico, debido a una mutación con efecto fundador. El objetivo de este artículo es presentar una familia con 15 pacientes afectados por esta enfermedad (AU)

Análisis etiopatogénico de la caries en tres pacientes con Síndrome de Noonan / Etiopathogenic analysis of the caries on three patients with Noonan Syndrome

Introducción: El síndrome de Noonan es una enfermedad genética frecuente, caracterizada por corta estatura, cuello alado y deformidad torácica entre otras alteraciones. No existen reportes que mencionen complicaciones de la salud bucal. Se presentan tres niños con este síndrome en quienes se observó un cuadro de policaries severa, determinando en cada caso cuales fueron los factores que incrementaron su susceptibilidad a la caries. Casos clínicos:1. Niña de 4 años que cursó con sepsis neonatal, ectasia pielocalicial, hipertrofia congénita del píloro, cardiopatía, hipoacusia y retraso psicomotor. Tenía múltiples caries cavitadas, requiriendo extracción de 4 incisivos.2. Niño de 4 años que cursó con miocardiopatía, ectasia pielocalicial y retraso psicomotor. Mostraba múltiples caries cavitadas, de localización atípica; se extrajeron 4 incisivos y se colocaron coronas preformadas.3. Niño de 9 años que cursó con plagiocefalia, laringomalacia, hernia hiatal, infecciones urinarias y retraso psicomotor. Tenía múltiples caries, profundas y extensas. requiriendo tratamiento pulpar y colocación de coronas preformadas. Discusión: Las caries en los tres pacientes eran similares y de rápida progresión. Los factores más relevantes fueron: vómitos y reflujo en dos pacientes e ingesta continua y prolongada de zumos, en otro. En los tres hubo exposición anormal a ácidos intrínsecos o extrínsecos en la cavidad bucal, así como hipotonía muscular y déficit psicomotor que dificultaron la autoclisis y la higiene bucal. Se infiere que en todos la patología inicial fue un cuadro de desmineralización de origen químico concordante con erosión dentaria, sobre el que ocurrió una inmediata colonización de microorganismos, acelerando la destrucción de los tejidos. Se concluye que las condiciones sistémicas y familiares de niños con Síndrome de Noonan favorecen la erosión y la instauración de caries que son focos potencialmente nocivos, por lo que deben implantarse medidas preventivas adecuadas y prontas (AU)

An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.

BACKGROUND AND OBJECTIVE: Kallmann's syndrome (KS) is characterized by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This entity can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome. Genetic defects have been demonstrated on the Xp22.3 region explaining the presence of one or both entities in affected individuals. In this report we describe the molecular findings in four patients, pertaining to a three generation family, with KS which was associated with XLI in two of them. MEASUREMENTS: Enzymatic activity of steroid sulphatase was measured in leucocytes. Polymerase chain reaction of the 14 exons of the Kallmann gene (KAL) and of the 5' and 3' extremes of the steroid sulphatase gene was performed in genomic DNA. PCR products of the 14 exons of the KAL gene were purified and sequenced. RESULTS: Absence of steroid sulphatase activity and a complete deletion of the STS gene were demonstrated in both patients with XLI. In all subjects, the 14 KAL gene exons amplified in a normal fashion; no mutation was documented after sequencing all exons. CONCLUSIONS: Although it has been proposed recently that the X-linked form of the disease accounts for the minority of patients with Kallman's syndrome, the pedigree chart of this family demonstrates this inheritance pattern. Various possibilities are mentioned in order to explain the absence of mutation in the KAL gene. The coexistence, in this family, of Kallman's syndrome individuals and patients with Kallman's syndrome and X-linked ichthyosis is discussed.

Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).

[Industrial pollution due to organic solvents as a cause of teratogenesis]. / Contaminación industrial con solventes orgánicos como causa de teratogénesis.

OBJECTIVE: To inform of a new teratogenic syndrome in human beings and its confirmation in rats. MATERIAL AND METHODS: The study comprised three phases: a field study; a case-control study; and a genetic epidemiology study, aiming at identifying the causes of the occurrence of congenital malformations and psychomotor retardation in the city of Matamoros, Tamaulipas. The second-phase clinical multidisciplinary study was carried out at a general hospital, to conduct a comprehensive evaluation of patients identified during the first phase and offer them the necessary treatment. The third-phase experimental study was done in rats in order to confirm the teratogenic effect of the agents detected in the first phase. RESULTS: A total of 44 patients had a peculiar phenotype and mental retardation of varying degrees, all children of ex-workers of the same factory who were in direct contact, without protection, with organic solvents (methyl cellosolve and ethylene glycol). In the clinical study a syndrome was delineated, previously unreported, consisting of a peculiar facies, mental retardation, and musculo-skeletal and sensorial abnormalities. In the experimental study it was demonstrated that both methyl cellosolve and ethylene glycol cause cranio-facial, musculo-skeletal and central nervous system abnormalities, which confirmed the teratogenic effect of these solvents. CONCLUSIONS: The results of this study establish the existence of a new teratogenic syndrome in humans, produced by methyl cellosolve and ethylene glycol, whose teratogenic capacity had not been reported previously.

Craniofacial development in rats with early resection of the zygomatic arch.

Eighty-two-day-old male Wistar rats were selected to study the pattern of craniofacial growth following resection of the zygomatic arches. Rats were divided into three groups: group I (n = 14), the control group; group II (n = 15), with unilateral resection of the zygomatic arch; and group III (n = 8), with bilateral resection. Direct dry skull and cephalometric measurements show increased facial projection and decreased transverse facial width on the side of the resected arch. If the results are extrapolated to the growth pattern of patients with the Treacher Collins syndrome, we can conclude that the zygomatic arch acts as a "moderator" in the morphologic development of the face.

[Angelman's syndrome (happy puppet) in 2 siblings. A follow-up over 10 years]. / Síndrome de Angelman (happy puppet) en dos hermanos. Seguimiento durante diez años.

The Angelman syndrome or "happy puppet" syndrome is a disorder of severe mental retardation, seizure, paroxysms of laughter, absent speech, jerky movements and ataxic gait. We present two sibs, man and woman, with this disorder, fact that support the possible autosomal recessive inheritance as a cause of this pathology, which hereditary mechanism is still a controversial point. Besides, we can observe different expression, being the woman more severely affected than the man. To our knowledge, this is the first mexican family reported with this syndrome, and with a ten years follow up. Chromosomal studies, with high resolution technique, were normal, we did not find the 15 chromosomic deletion referred as a possible cause in some cases, that is why it is undeniable that genetic heterogeneity exists in this syndrome.

[Periodontal disease in Noonan's syndrome]. / Enfermedad periodontal en el síndrome de Noonan.

Two cases of non-related patients suffering from Noonan syndrome with characteristic data of the syndrome, had clinical and radiological evidence of very advanced periodontal disease. This disease seems to be unjustified because of the patients age and the lack of irritating local factors or systemic illnesses. A review of the literature showed no evidence of the periodontal disease as part of the syndrome.

[Aglossia-adactilia syndrome]. / Síndrome de aglosia-adactilia

A 7 month-old girl was studied and found to have aglossia--adactylia syndrome. The etiopathogenic aspects of this disorder are discussed.