Upper Arm Measurements of Healthy Neonates Comparing Ultrasonography and Anthropometric Methods

Objective: To compare measurements of the upper arm cross-sectional areas (total arm area,arm muscle area, and arm fat area of healthy neonates) as calculated using anthropometry with the values obtained by ultrasonography. Materials and methods: This study was performed on 60 consecutively born healthy neonates: gestational age (mean6SD) 39.661.2 weeks, birth weight 3287.16307.7 g, 27 males (45%) and 33 females (55%). Mid-arm circumference and tricipital skinfold thickness measurements were taken on the left upper mid-arm according to the conventional anthropometric method to calculate total arm area, arm muscle area and arm fat area. The ultrasound evaluation was performed at the same arm location using a Toshiba sonolayer SSA-250AÒ, which allows the calculation of the total arm area, arm muscle area and arm fat area by the number of pixels enclosed in the plotted areas. Statistical analysis: whenever appropriate, parametric and non-parametric tests were used in order to compare measurements of paired samples and of groups of samples. Results: No significant differences between males and females were found in any evaluated measurements, estimated either by anthropometry or by ultrasound. Also the median of total arm area did not differ significantly with either method (P50.337). Although there is evidence of concordance of the total arm area measurements (r50.68, 95% CI: 0.55–0.77) the two methods of measurement differed for arm muscle area and arm fat area. The estimated median of measurements by ultrasound for arm muscle area were significantly lower than those estimated by the anthropometric method, which differed by as much as 111% (P,0.001). The estimated median ultrasound measurement of the arm fat was higher than the anthropometric arm fat area by as much as 31% (P,0.001). Conclusion: Compared with ultrasound measurements using skinfold measurements and mid-arm circumference without further correction may lead to overestimation of the cross-sectional area of muscle and underestimation of the cross-sectional fat area. The correlation between the two methods could be interpreted as an indication for further search of correction factors in the equations.

Fístulas Carótido-Cavernosas. Perspectivas de Diagnóstico e Terapêutica

Even though in clinical practice carotid cavernous fistulas (CCF) are not a frequent pathology, it should be a diagnostic hypothesis in face of a suggestive clinical presentation. We intended to review the diagnosis and the therapeutics, comparing them with the actual perspectives. Files of 25 patients with the diagnostic hypothesis of CCF, confirmed by conventional angiography in the HSAC Neuroradiology Department, were reviewed. In this group of patients, (5 males and 20 females), the fistulous aetiology was spontaneous in 10 and traumatic in 15. Clinically the symptom most often presented was diplopia (23 cases) and the most frequent encountered sign was ophthalmoplegia (20 cases). Of the Neuroradiologic investigation, CT scan (done to all patients) have shown an prominent superior ophthalmic vein as the most frequent abnormality. Angiographic study was based on Lasjaunias et al protocol (Surgical Neuroangiography, Vol. 2, Springer-Verlag). Surgery was the therapeutic approach for the traumatic fistulas; only 2 of the spontaneous were treated by endovascular route. Three patients are still under observation. In all the others cases there was a fistula exclusion.

Digit Ratio (2D:4D) in Newborns: Influences of Prenatal Testosterone and Maternal Environment

Introduction: The 2D:4D digit ratio is sexually-dimorphic, probably due to testosterone action through the perinatal period. We characterize the 2D:4D ratio in newborn (NB) infants, in between the pre- and postnatal surges of testosterone, and relate it to the mother's 2D:4D and to testosterone levels in the amniotic fluid (AF). Subjects and methods: Testosterone was assayed in samples of maternal plasma and AF collected at amniocentesis. Shortly after birth, 106 NBs and their mothers were measured for 2D:4D ratio. Results: NB males had lower mean 2D:4D ratios than females but this dimorphism was significant only for the left hand (males: 0.927; females: 0.950; p=0.004). Mothers who had sons had lower 2D:4D ratios than those who had daughters and the mother's 2D:4D were higher than those of NBs regardless of sex. Both hands of NB females were negatively correlated with AF testosterone and positively correlated with the mother's 2D:4D, but males showed no significant associations. Maternal plasma testosterone also showed a negative weak correlation with NB's digit ratio in both sexes. Conclusions: Sexual dimorphism at birth was only significant for the left hand, in contrast with reports of greater right hand dimorphism, suggesting that postnatal testosterone is determinant for 2D:4D stabilization. The lower 2D:4D ratios in mothers who had sons support claims that hormone levels in parents are influential for determining their children's sex. NB female's digit ratio, but not males', was associated to the level of AF testosterone. The mother's 2D:4D ratios were positively correlated with their daughters' 2D:4D, but the same was not observed for male NBs, suggesting that prenatal testosterone levels in male fetus lead their 2D:4D ratios to stray from their mothers' with high individual variability.

Clinical and Pathological Findings in Women with Fabry Disease

Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X. Females with the defective gene are more than carriers and can develop a wide range of symptoms. Nevertheless, disease symptoms generally occur later and are less severe in women than in men. The enzyme deficiency manifests as a glycosphingolipidosis with progressive accumulation of glycosphingolipids and deposit of inclusion bodies in lysosomes giving a myelinlike appearance. Patients and Methods. Records of renal biopsies performed on adults from 1st January 2008 to 31st August 2011, were retrospectively examined at the Renal Pathology Laboratory. We retrieved biopsies diagnosed with Fabry disease and reviewed clinical and laboratory data and pathology findings. Results. Four female patients with a mean age of 49.3±4.5 (44-55) years were identified. The mean proteinuria was 0.75±0.3 g/24h (0.4-1.2) and estimated glomerular filtration rate (CKD EPI equation) was 71±15.7 ml/min/1.73m2 (48-83). Three patients experienced extra-renal organ involvement (cerebrovascular, cardiac, dermatologic, ophthalmologic and thyroid) with distinct severity degrees. Leukocyte α-GAL A activity was below normal range in the four cases but plasma and urinary enzymatic activity was normal. Light microscopy showed predominant vacuolisation of the podocyte cytoplasm and darkly staining granular inclusions on paraffin and plastic-embedded semi-thin sections. Electron microscopy showed in three patients the characteristic myelin-like inclusions in the podocyte cytoplasm and also focal podocyte foot process effacement. In one case the inclusions were also present in parietal glomerular cells, endothelial cells of peritubular capillary and arterioles. Conclusion. Clinical signs and symptoms are varied and can be severe among heterozygous females with Fabry disease. Intracellular accumulation of glycosphingolipids is a characteristic histologic finding of Fabry nephropathy. Since this disease is a potentially treatable condition, its early identification is imperative. We should consider it in the differential diagnosis of any patient presenting with proteinuria and/or chronic kidney disease, especially if there is a family history of kidney disease.

Systemic Mastocytosis - a Diagnostic Challenge

Mastocytosis refers to a group of disorders characterized by the infiltration of clonally derived mast cells to the skin or extracutaneous tissues resulting in a heterogeneous clinical picture. It is a rare hematologic disorder in all its forms. The exact incidence is unknown; it affects patients of any age and males and females equally. Its molecular pathogenesis is incompletely understood. The clinical features of mastocytosis result from both chronic and episodic mast cell mediator release, signs and symptoms arising from diffuse or focal tissue infiltration, and, occasionally, the presence of an associated non-mast cell clonal hematologic disease. The histopathologic analysis is essential for definitive diagnosis but there is no curative treatment. The authors report a clinical case of a 72-year-old woman with no history of allergies, with bicytopenia, weight loss, and diffuse axial osteolytic lesions. This is a rare clinical case of aggressive systemic mastocytosis for which palliative treatment can improve survival and quality of life. A brief review of the literature about this pathology is also included.

Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.

Fractures in Children and Adolescents with Spina Bifida: The Experience of a Portuguese Tertiary-Care Hospital

AIM: The morbidity associated with osteoporosis and fractures in children and adolescents with spina bifida highlights the importance of osteoporosis prevention and treatment in these patients. The aim of this study was to examine the occurrence and pattern of bone fractures in paediatric patients with spina bifida. METHOD: We reviewed the data of all paediatric patients with spina bifida who were treated in our centre between 1999 and 2008. RESULTS: One hundred and thirteen patients were included in the study (63 females, 50 males; mean age 10y 8mo, SD 4y 10mo, range 6mo-18y). The motor levels were thoracic in six, upper lumbar in 22, lower lumbar in 42, and sacral in 43 patients. Of the 113 patients, 58 (51.3%) had shunted hydrocephalus. Thirty-six (31.8%) were non-ambulatory (wheelchair-dependent [unable to self-propel wheelchair] n=3, wheelchair-independent [able to self-propel wheelchair] n=33), 13 were partial ambulators, 61 were full ambulators, and three were below the age of walking. Forty-five fractures were reported in 25 patients. The distal femur was the most common fracture site. Statistical analyses showed that patients with higher levels of involvement and in wheelchairs had a significantly increased risk of having a [corrected] fracture (p<0.001). Spontaneous fractures were the principal mechanism of injury, and an association was identified between fracture mechanism, type of ambulation, and lesion level: the fractures of patients with higher levels of motor functioning and those in wheelchairs were mainly pathological (p=0.01). We identified an association between risk of a second fracture, higher motor level lesion, and non-ambulation. There was an increased risk of having a second fracture after a previous spontaneous fracture (p=0.004). INTERPRETATION: Data in this study indicate a high prevalence of fractures in patients with spina bifida.