Síndrome de Prader-Willi: diagnóstico en el periodo neonatal / Neonatal presentation of Prader-Willi syndrome: report of a case

El síndrome de Prader-Willi debe formar parte del diagnóstico diferencial en los casos de hipotonía de presentación neonatal de origen central, especialmente cuando se acompaña de otras características clínicas típicas de la enfermedad. La importancia de su diagnóstico precoz, ya sea en el ámbito hospitalario o desde las consultas de Atención Primaria, reside tanto en la necesidad de instaurar una adecuada estimulación y fisioterapia por parte de los Servicios de Atención Temprana como de un correcto soporte nutricional en los que debutan con trastorno importante de succión. Así mismo es importante ofrecer un correcto consejo genético para planificar futuras gestaciones. Presentamos el caso clínico de un recién nacido con hipotonía de presentación neonatal junto con criptorquidia bilateral y fenotipo peculiar, en el que se confirmó, mediante estudio genético, el diagnóstico de sospecha de síndrome de Prader-Willi (AU)

Prader-Willi syndrome should be part of the differential diagnosis in cases of central neonatal hypotonia, especially when accompanied by other typical clinical features of the disease. The importance of an early diagnosis, either in hospital or in primary care center lies both in the need to establish an early care and nutritional support, which will improve the quality of life of patients suffering from this syndrome, and genetic counselling that should be made to parents of affected children to plan future pregnancies. We present the case of a new-born with neonatal hypotonia, bilateral cryptorchidism and peculiar phenotype, in which the suspected diagnosis of Prader-Willi syndrome was confirmed by genetic study. We also present a review of the etiology, phenotypic findings and clinical course over the stages of life, management and prognosis of the entity (AU)

Results of uncemented hemiarthroplasty as primary treatment of severe proximal humerus fractures in the elderly.

OBJECTIVES: The purpose of this study was to analyze functional and radiologic results of a consecutive series of elderly patients who underwent uncemented hemiarthroplasty as primary treatment of complex proximal humeral fractures. METHODS: Twenty-one patients with severe proximal humerus fracture (three or four fragments and three- or four-fragment fracture dislocations) were treated with uncemented proximal humerus hemiarthroplasty. Patients were evaluated using the Constant-Murley Score, the Quick scale Disabilities of Arm, Shoulder and Hand (Quick-DASH) Score, range of motion, residual pain, radiographic parameters, and complications including clinical and radiologic data of mobilization. RESULTS: After a mean postoperative period of 20.57 months (range 12-42 months), the mean Constant-Murley Score was 44 points (20-57), the mean Quick-DASH score was 24 points (16-39), postoperative pain according to a mean visual analogue scale was 1 (0-8), active abduction was 50° (30-135), and active flexion 70° (20-120). There were no cases of infection, deep vein thrombosis, dislocation, blood transfusions, or reoperation because of prosthetic loosening. Bivariate analysis of demographic data, radiologic findings, and other variables showed associations between duration of surgery and a higher Quick-DASH score (0.606; p = 0.037), and the number of sessions of rehabilitation with a higher Quick-DASH score (0.708; p = 0.015). CONCLUSIONS: The results of treatment of severe proximal humerus fractures in the elderly with an uncemented hemiarthroplasty are safe and promising; however, a comparative cohort study (cemented vs. uncemented) and long-term follow-up are still needed.

[Inter-observer agreement on the Eaton-Littler classification of trapeziometacarpal joint osteoarthritis]. / Concordancia interobservador de la clasificación de Eaton-Littler de la artrosis trapeciometacarpiana.

OBJECTIVE: To study the concordance of the radiographic classification of Eaton-Littler for the diagnosis of basal thumb joint osteoarthritis (BTJO). The null hypothesis was that the concordance was due to chance and the alternative was that the concordance was not due to chance. MATERIAL AND METHOD: We have observed the x-rays of 46 patients with symptoms and clinical signs of BTJO. They were independently classified by five physicians: three experts in upper extremity, one in radiology and a fourth year resident of Orthopedics. We studied the concordance in the observations through the global Kappa. DISCUSSION: The diagnosis of BTJO is based primarily on clinical exploration, radiology is a complementary method of confirmation. The classification of Eaton-Littler proposes 4 stages of the disease, with a therapeutic involvement. CONCLUSIONS: The concordance of the radiographic classification of Eaton-Littler is moderate.