Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.

The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.     

Waardenburg syndrome: clinical differentiation between types I and II

Here we present the results of a study performed on 59 patients affected by Waardenburg syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated cases without telecanthus. These patients belong to 37 families; the main contributions and conclusions are based on the detailed study of 25 of these families, examined using standard procedures. All patients were examined as to the presence of eight cardinal signs important for the diagnosis of the condition; from each patient, from many of his/her normal relatives, and from a control sample of 300 normal individuals stratified by age and sex, 23 different craniofacial measurements were obtained. We also estimated, using our own data as well those collected from the literature, the frequencies of the cardinal signs, based on a total sample of 461 affected individuals with WSI and 121 with WSII. In order to originate discriminant functions to separate individuals affected by one of the two variants, both metric (from craniofacial measurements) as well as categoric data (based on the frequencies of the cardinal signs or symptoms) were used. Discriminant analysis based on the frequency of the eight cardinal signs can improve the separation of WSI patients without telecanthus from those presenting the variant II. We present also a Table with the conditional probabilities favoring the diagnosis of WSI for suspect subjects without telecanthus and any combination of the other seven signs/symptoms. The discriminant function based on the four ocular measurements (inner and outer intercanthal, interpupillary, and inferior lacrymal distances), on the other side, perfectly classifies patients affected by one of the variants of WS, the same taking place when the average values of the W index of all affected individuals per family are used. The discriminant function based solely in the individual W index values of patients correctly classifies 93% of WSII subjects, but only 60% of the patients with the I variant of WS.     

Testicular regression in a patient with virilized female phenotype

The 16-year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46,XY and she was H-Y antigen-positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal-recessive inheritance of this condition is proposed.     

Autosomal dominant late adult spinal muscular atrophy,type finkel

We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of patients confirmed the neurogenic nature of the condition. Unusual findings in this disorder were cramps, spontaneous fits of suffocation, and symptomatic myotonia. Other manifestations are slow loss of muscle strength and progressive proximal atrophy, which starts in the lower limbs and progresses to the upper limbs; hypoactive or absent tendinous reflexes; and generalized fasciculations. Sensory and cranial nerve function is unimpaired. Probabilities for genetic counseling are evaluated by means of a method adequate to the late-onset nature of the condition.     

Magnetic suspension of the rotor of a ventricular assist device of mixed flow type

Abstract:  This work presents results of preliminary studies concerning application of magnetic bearing in a ventricular assist device (VAD) being developed by Dante Pazzanese Institute of Cardiology—IDPC (São Paulo, Brazil). The VAD-IDPC has a novel architecture that distinguishes from other known VADs. In this, the rotor has a conical geometry with spiral impellers, showing characteristics that are intermediate between a centrifugal VAD and an axial VAD. The effectiveness of this new type of blood pumping principle was showed by tests and by using it in heart surgery for external blood circulation. However, the developed VAD uses a combination of ball bearings and mechanical seals, limiting the life for some 10 h, making impossible its long-term use or its use as an implantable VAD. As a part of development of an implantable VAD, this work aims at the replacement of ball bearings by a magnetic bearing. The most important magnetic bearing principles are studied and the magnetic bearing developed by Escola Politécnica of São Paulo University (EPUSP-MB) is elected because of its very simple architecture. Besides presenting the principle of the EPUSP-MB, this work presents one possible alternative for applying the EPUSP-MB in the IDPC-VAD.     

Development and validation of an instrument for measuring parkinsonian motor impairment: TRAPS-D

Neurological Sciences - Parkinson’s disease is incurable, idiopathic, degenerative, and progressive, and affects about 1% of the elderly population. Multidisciplinary clinical treatment is...     

Risk Factors for Development of Rectal Neuroendocrine Tumors Longer Than 9 mm: Retrospective Cohort

BackgroundRectal neuroendocrine tumors (R-NET) represent the most frequent of gastroenteropancreatic neuroendocrine neoplasms (NEN-GEP) according to the United States Surveillance, Epidemiology, and End Results database. With an annual percentage of occurrence increasing to 8.2% of all rectal neoplasms, R-NET affect less than 2% and are reported in only 0.05% to 0.07% of patients undergoing colorectal cancer (CRC) screening. The primary objective of this study was to assess the risk factors associated with R-NET greater than 10 mm. As a secondary objective, it was also aimed to evaluate the response to endoscopic treatment.Methods: This was a retrospective study, using data collected through the analysis of medical records of colonoscopies performed from January 2008 to December 2014. Records of polypectomies were identified, and the results were searched for pathological findings of R-NET. We also gathered epidemiological data and outcomes as risk factors for lesions greater than or equal to 10 mm, with local and distant recurrence.Results: During the study period, 18 218 colonoscopies were performed and 10 865 polypoid lesions were detected and removed, 20 with R-NET anatomopathology. The detection rate was 0.1%. The risk factors associated with major lesions were Japanese ethnicity, the lack of previous cancer diagnosis, and a Ki67 index > 2%. The mean follow-up was 56.6 months, and there was no local lymph node recurrence or distant relapse.ConclusionThis study concludes that endoscopic resection is a good and effective method for treatment of Grade 1 rectal NET smaller than 11 mm, with high cure rates and low rates of local or distant relapse.