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Biomedical subjects

E Guillén-Navarro

Publications and source records attributed to E Guillén-Navarro.

11 recordsLinked to original sources
PubMed2006

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.

Abnormalities, Multiple↗
PubMed2006

[Monogenic causes of X-linked mental retardation].

INTRODUCTION AND DEVELOPMENT: The term X-linked mental retardation (XLMR) refers to a heterogeneous group of conditions that, on the basis of their presenting symptoms, have traditionally been classified as being syndromic (SMR) and non-syndromic or non-specific (XMR). The prevalence of XLMR in males is estimated to be 10%, excluding fragile X syndrome, which is the most common monogenic cause. There are over 100 genes involved in XLMR. In this work we review some of the phenotypes and genes involved in SMR. A small stature and coarse features indicate a suspected case of Coffin-Lowry syndrome, which is secondary to mutations of the RPS6KA3 or RSK2 genes. Cerebellar hypoplasia points towards alterations of the OPHN1 gene. In males with coarse features and genital abnormalities screening for alpha thalassemia must be carried out; this association results from mutations in the ATRX gene. Of the genes involved in mental retardation and epilepsy, the most notable are SLC6A8 (which triggers a deficit in creatine transport when altered and which is easily detected with respect to its biochemistry) and ARX (also associated to lissencephaly and dystonia of the hands). Mutations in the PQBP1 and JARID1C genes have been identified in patients with mental retardation associated to microcephaly and short stature. A high level of T3 hormone points towards defects in the SLC16A2 gene. Some of these genes have also been implicated in XMR, which makes this distinction less clear molecularly speaking. CONCLUSIONS: Systematic screening of all the genes involved in XLMR is not possible in clinical praxis today. It is important to search for differential phenotypic features in males with mental retardation that guide the study towards specific genes. Identification of the molecular defect will allow for correct genetic counselling. DNA microarrays for the study of different mutations in a large number of genes involved in mental retardation are the great hope for the future.

Humans↗
PubMed2006

[Fragile X syndrome].

INTRODUCTION AND DEVELOPMENT: Fragile X syndrome is the main inheritable genetic cause of mental retardation. It is a dynamic mutation and is due to the increase in the number of CGG triplets in exon 1 of the FMR1 gene, located in Xq27.3, and to the hypermethylation of the corresponding genomic region, which impedes production of messenger RNA and, therefore, of FMRP protein. Three types of alleles can be established, according to the number of repetitions: normal, with premutation and with full mutation. Only individuals with full mutation have fragile X syndrome. Two sub-phenotypes of the syndrome, associated to premutation, have recently been reported and are seen to appear from the fourth decade of life onwards. CONCLUSIONS: The number of female carriers of a premutation with early ovarian failure has increased, while reports have also appeared describing a neurological picture of intentional trembling and ataxia among carriers of the premutation (FXTAS).

Female↗
PubMed2004

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis, caused by a partial deficiency of hydroxymethylbilane synthase (HMBS). Knowledge of the nature of the HMBS mutations causing AIP in Spanish families is very limited. Here we report a novel 669_698del of the HMBS gene in twenty-two individuals from five independent Spanish AIP families, settled in Murcia (southeastern region of Spain). All mutation carriers shared a common disease associated haplotype indicating an ancestral founder effect. Identification of the 669_698del founder mutation allowed rapid and simple molecular diagnosis of AIP in families from this region in Spain. In addition, 771 + 58C>T in intron 12 on the non-669_698del allele was identified in six AIP patients, which promoted homozygous AIP misdiagnosis.

Adult↗
PubMed2000

A comparative study of the elective treatment of variceal hemorrhage with beta-blockers, transendoscopic sclerotherapy, and surgery: a prospective, controlled, and randomized trial during 10 years.

OBJECTIVE: To compare three options for the elective treatment of portal hypertension during a 10-year period. METHODS: Patients included in the trial were 18 to 76 years old, had a history of bleeding portal hypertension, and had undergone no prior treatment. Treatment options were beta-blockers (propranolol), sclerotherapy, and portal blood flow-preserving procedures (selective shunts and the Sugiura-Futagawa operation). RESULTS: A total of 119 patients were included: 40 in the pharmacology group, 46 in the sclerotherapy group,and 33 in the surgical group. The three groups showed no differences in terms of age, Child-Pugh classification, and cause of liver disease. The rebleeding rate was significantly lower in the surgical group than in the other two groups. The rebleeding rate was only 5% in the Child A surgical group, compared with 71% and 68% for the sclerotherapy and pharmacotherapy groups, respectively. Survival was better for the low-risk patients (Child A) in the three groups, but when the three options were compared, no significant difference was found. CONCLUSIONS: Portal blood flow-preserving procedures offer the lowest rebleeding rate in low-risk patients undergoing elective surgery.

Adolescent↗
PubMed1999

Biliary duct injury: partial segment IV resection for intrahepatic reconstruction of biliary lesions.

A technique for intrahepatic reconstruction of the biliary tree after complex high injuries is described. The fundament of the procedure is the removal of a wedge of segment IV at the level of the hilar plate. When the hilar plate is reached and no adequate exposure of the ducts can be obtained, removing a 1 x 1-in wedge of segment IV between the gallbladder bed and the round ligament exposes the left and right ducts. An anteroposterior view of the plate is obtained instead of a caudocephalic dissection, exposing healthy, nonscarred ducts for reconstruction. We have used this approach in 22 patients, and adequate exposure of the ducts has been obtained, with a high success rate of patency of the anastomosis at a mean follow-up of 3 years. Twenty patients have a patent anastomosis, with a good quality of life and no restenosis.

Adult↗
PubMed1998

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.

A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.

Adolescent↗
PubMed1998

Acro-renal-ocular syndrome: expansion of the phenotype.

We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.

Abnormalities, Multiple↗
PubMedDate not supplied

Small-diameter mesocaval shunts: a 10-year evaluation.

The use of small-diameter portosystemic shunts for the treatment of bleeding esophageal varices caused by portal hypertension has emerged as an outgrowth of the development of polytetrafluoroethylene vascular grafts, which allow the use of a narrow lumen. We report our experience with this type of graft over a 10-year period. Thirty-three patients with good liver function (Child-Pugh class A) were electively operated. The average age of these patients was 45 years (range 17 to 71 years). Twenty-nine patients had liver cirrhosis, one had portal fibrosis, and three had idiopathic portal hypertension. Operative mortality was 3%, and the rebleeding rate was 15%. Postoperative encephalopathy was observed in 14 patients (11%), three of whom had grade III to IV encephalopathy. The remaining 11 patients, had mild encephalopathy that was easily controlled. Postoperative angiography showed shunt patency in 81% of the patients, reduction in portal vein diameter in 33% of the patients, and portal vein thrombosis in 6%. Good postoperative quality of life was observed in 63% of the patients. Survival according to the Kaplan-Meier actuarial method was 81% at 12 months, 56% at 60 months, and 36% at 10 years. These shunts are a good alternative for patients being considered for surgery in whom other portal blood flow preserving procedures (i.e., elective shunts, devascularization with esophageal transection) are not feasible.

Adolescent↗