A Newborn With Constriction Ring Syndrome: A Case Report

@#We report a rare case of constriction ring syndrome in a 3515 grams full term female newborn who was born with a constriction ring encircling the fingers of her right hand diagnosed as acrosyndactyly. It is a rare congenital malformation and the risk factors are still unknown. The neonate had severe swelling of her third and fifth fingers, and skin breaches. There were intrauterine amputations in her second and forth fingers. The X-ray images showed deformities in both the size and shape of the bones of her fingers. No additional abnormalities or comorbidities were found. The neonate was referred to a better equipped hospital because of impending necrosis from autoamputation. During anamnesis, the mother recalled that she took haloperidol and trihexyphenidyl until 15 weeks’ gestation. There was neither history of fever, trauma, intake of herbal preparations, nor family history of deformity. Etiology and risk factors of congenital constriction ring syndrome are still under discussion. Early intervention is recommended for a successful outcome.

Análisis preliminar del cuestionario Potenziani para la validación diagnóstica del hipogonadismo de comienzo tardío y su concordancia con los cuestionarios de Heinemann (AMS) y de Morley (ADAM) / Preliminary analysis of the Potenziani questionnaire for the late onset hypogonadism diagnostic validation and its concordance with the Heinemann (AMS) and Morley (ADAM) questionnaires

Hipogonadismo de comienzo tardío, es una condición que afecta 6% al 12% de hombres entre 40 y 70 años y aun así, está subdiagnosticada, por lo que se propone un cuestionario de validación diagnóstica, con el objetivo de lograr mayor sensibilidad, especifidad y predictividad que los cuestionarios ya existentes. Se analizaron 107 hombres entre 45 y 70 años, con disminución del entusiasmo en actividad diaria, cansancio fácil, menor productividad en su trabajo, cambios del humor con propensión a la irritabilidad, disminución de su masa magra muscular, con tendencia al sobrepeso y afectación en actividades recreativas y deportivas. Se hizo interrogatorio exhaustivo, examen físico y pruebas de laboratorio (perfil 20, perfil hormonal urológico masculino, antígeno prostático específico total, libre y relación libre/total, examen de orina y urocultivo). Se solicitó contestar al paciente tres cuestionarios de validación diagnóstica del hipogonadismo de comienzo tardío: Heinemann AMS (Ageing Males Survey-1999, St. Louis University, Androgen Deficiency in Aging Male), Morley ADAM-2000 y el cuestionario de validadción diagnóstica del hipogonadismo de comienzo tardío-Potenziani-2007, para ser comparados y demostrar su validez con pruebas de especificidad y sensibilidad, índice de Youden, pruebas de concordancia con intervalos de confianza del 95%, en relación al diagnóstico bioquímico del hipogonadismo de comienzo tardío. Los resultados arrojaron que el cuestionario "Potenziani" fue más sensible (88,57%), fue más específico (41,67%), tuvo el índice de validez más alto (57,01%) y el valor predictivo positivo más alto de los tres cuestionarios con el 42,5%. Por tal motivo se ha demostrado que el cuestionario propuesto es más adecuado que Heineman-AMS y el Morley-ADAM en la aproximación diagnóstica del síndrome de hipogonadismo de comienzo tardio

Late onset hypogonadism a condition which affect 6%-12% of men between 40-70 years old, and still it is subdiagnosed for which we did a validation questionnaire with the objetive to be more sensitive, especific and predictive that old questionnaires. We analized 107 men with ages between 45-70 years old whom consulted for libido deterioration, erectile dysfunction, less enthusiasm of daily life, less work-productivity, easy tiredness, humor changes with irritability, less muscle mass, overweight, and deterioration of sexual life in general. We performed exhaustive interrogatory, physical examination, and laboratoty test (20 profile, hormonal-urologic profile, prostatic specific antigen, urine and urocultive). We ask them to complete three questionnaires of late onset hypogonadism diagnostic validation: Heinemann AMS, Morley ADAM, Potenziani 2007, to be compared and show its validity with specificity and sensibility tests, Youden Index, test of concordance with confidence interval of 95%, in relation to biochemical diagnosis of deficiency testosterone syndrome. The results were that the Potenziani`s cuestionary was more sensible (88.57%), more specific (41.67%), with the validation index more high (57.01%) and with the positive predictive value more high too (42.5%). For that reason we show that Potenziani`s validation questionnaire of late onset hypogonadism, is more adecuate in the diagnostic aproximation of this condition