An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exercise-induced dystonia and congenital lactic acidosis. Here we describe the case of a newborn with mutations in ECHS1 that caught our attention after the incidental finding of 3-hydroxy-butyryl\3-hydroxy-isobutyryl\malonylcarnitine (C4OH\C3DC) and tiglylcarnitine (C5:1) on blood spot in the newborn screening (NBS) program. Diagnosis was suspected based on the analysis of organic acids on dried urine spot. A moderate increase of 2-methyl-2,3-dihydroxybutyric acid, was detected, which is a known marker of this disease. Exome analysis showed c.404A>G (p.Asn135Ser) mutation in homozygosis in the ECHS1 gene. The child was therefore admitted to the hospital. Initial examination showed little response to auditory stimuli and mild hypertonia of the extremities. Clinical deterioration was evident at 4 months of age, including neurological and cardiac involvement, and the patient died at 5 months of age. This case illustrates how an incidental detection in the NBS Program can lead to the diagnosis ECHS1 deficiency. Although it is a severe disease, with no treatment available, early detection would allow adequate genetic counseling avoiding the odyssey that suffered most of these families.

The Influence of Nitrile Gloves on the Setting Behavior of Polyvinyl Siloxane Putty Impression Materials.

OBJECTIVE: The purpose of this study was to assess the gelation and polymerization time of three polyvinyl siloxane (PVS) putty materials and to determine if those times were affected by nitrile gloves under different conditions. MATERIALS AND METHODS: Ten specimens (n=10) were obtained for each PVS putty material (Express STD, 3M ESPE; Extrude Xtra, Kerr and Exafast, GC) and tested under different conditions (gloves washed, gloves unwashed and hands contaminated). The gelation and polymerization time were measured using an oscillating rheometer and recorded for 400 s at 37°C to simulate the oral environment. RESULTS: The mean gelation time of hand contaminated specimens was 157.50 minutes and was significantly slower than that by using nitrile washed gloves (mean=117.94, p=.004) and by using unwashed gloves (mean=99.46, p⟨0.001). Unwashed gloves had significantly quicker gelation times compared to washed gloves (p=.046). The gelation time was significantly delayed with Exafast compared to Extrude Xtra and Express STD across all the different types of glove conditions (p⟨0.043). No significant differences were observed between polymerization time with Exafast and Extrude Xtra Putty. CONCLUSIONS: Extrude Xtra putty material had significantly better performance than GC Exafast and Express. Hand contaminated specimens were affected by the gelation/polymerization time.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. GALNS mutations occur throughout the gene and many mutations are identified only in single patients or families, causing difficulties both in mutation detection and interpretation. In this study, molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function, of which 39 are previously unpublished, together with 26 single-nucleotide polymorphisms. Recommendations for the molecular testing of patients, clear reporting of sequence findings, and interpretation of sequencing data are provided.

Tratamiento de las fracturas periprotésicas de rodilla de fémur distal mediante clavo intramedular retrógrado / Treatment of periprosthetic knee fractures in the distal femur by means of retrograde intramedullary nailing

Objetivos. Valorar nuestros resultados radiológicos y funcionales tras la estabilización de fracturas periprotésicas de rodilla en fémur distal mediante clavo intramedular acerrojado retrógrado. Material y método. Estudio retrospectivo de 12 pacientes afectados de fractura supracondílea periprotésica de fémur distal. El seguimiento medio fue de 14 meses (6-24 meses). Resultados. Entre las posibles causas de la fractura periprotésica encontramos la existencia de una osteotomía femoral anterior excesiva en cinco de los doce pacientes de nuestro estudio. Se consiguió la consolidación clínica y radiológica en todos los pacientes, tras un período medio de 15 semanas. Como complicaciones cabe señalar la consolidación en mala posición en 3 de los 12 pacientes por falta de reducción durante la cirugía; ninguna precisó tratamiento secundario. Conclusiones. La existencia de una osteotomía anterior excesiva que debilita la cortical femoral podría ser una de las causas de fractura periprotésica, por lo que debe ser evitada. El enclavado intramedular retrógrado para el tratamiento de fracturas periprotésicas de fémur distal es una técnica que proporciona buenos resultados con un índice bajo de complicaciones

Purpose. To assess the radiological and functional results obtained after stabilization of periprosthetic knee fractures in the distal femur by means of a retrograde locked intramedullary nail. Materials and methods. Retrospective study of 12 patients that sustained a periprosthetic supracondylar distal femoral fracture. Mean follow-up was 14 months (range: 6-24 months). Results. Clinical and radiological healing was achieved in all patients over a mean period of 15 weeks. As regards complications, the presence of a malunion in 3 out of the 12 patients was probable related the fact that the fracture was not reduced intraoperatively; however, these did not require secondary treatment. Among the possible causes for the periprosthetic fracture, we could mention the existence of an excessive previous femoral osteotomy in five of the 12 patients in our study. Conclusions. Retrograde intramedullary nailing for the treatment of periprosthetic distal femoral fractures is a technique that has afforded us good results with a low complications rate. The presence of an overly aggressive previous osteotomy that weakened the femoral cortex could be construed to be a likely cause for the periprosthetic fracture; therefore these should be avoided (AU)

Schwanoma de plexo braquial: descripción de un caso y revisión de la literatura / Schwanoma of braquial plexus: clinical report and revieuw of the literature

Los schwanomas son tumores benignos perineurales. La literatura presenta algunos casos asociados a neurofibromatosis tipo 2. Presentamos una localización infrecuente de Schwanoma en el plexo braquial a nivel del tronco primario superior y medio sin asociación a neurofibromatosis. Su presentación inicial consistió en una masa supraclavicular con dolor distal a la percusión sobre la misma. La tumoración se trató mediante biopsia excisional microquirúrgica mediante abordaje supraclavicular, tras lo cual los síntomas remitieron y el paciente se hallaba asintomático 2 años después del tratamiento. La exploración de la fosa supraclavicular y axilar en la sistemática de exploración de las cervicobraquialgias

Schwannomas are benign peripheral nerve tumors. Some cases associated to type 2 neurofibromatosis have been reported. Authors present an unusual location of schwannoma in the braquial plexus not associated to neurofibromatosis. Initially the patient complained of a supraclavicular tumor with distal tingling to percussion. Through a supraclavicular approach, a microsurgical excision biopsy was performed. After surgery symptoms improved and two years later the patient was asymptomatic. Deep palpation of supraclavicular and axilar areas must be included in the usual exploration of patients that complain of neck and arm pain

Problemas ortopédicos en la picnodisostosis / Pycnodysostosis. Orthopedic aspects

Se presentan dos casos de picnodisostosis y se exponen los hallazgos clínicos, fisiopatológicos, genéticos y radiológicos. Esta enfermedad es una displasia cráneo-metafisaria caracterizada por aumento de la densidad ósea, cuya fisiopatología molecular se ha atribuido a una deficiencia enzimática

Two cases of pycnodysostosis are presented. Clinical, physiopatological, radiographic and genetic findings are described. Pycnodysostosis is a sclerosing bone dysplasia characterized by generalized increased bone density, due to an enzimatic deficit