Advances in computer-assisted single-photon emission computed tomography (SPECT) for epilepsy surgery in children

Epilepsy surgery has emerged as an important option in the treatment of children with epilepsy that is refractory to antiepileptic drug management. The cornerstone of successful surgery is accurate localization of the brain region of seizure onset. Traditional techniques of seizure onset localization, e.g. surface electroencephalography (EEG) recording and magnetic resonance imaging (MRI), allow accurate localization in a significant number of patients. When the focus of seizure onset is not apparent from these non-invasive techniques, other methods of localization, e.g. intracranial EEG recording, may be needed before resection of the focus. Single-photon emission computed tomography (SPECT) is a nuclear medicine blood-flow technique that has been used to identify a region of epileptogenic brain associated with low blood flow in the resting state (interictal SPECT) or increased blood flow at the time of seizure activity (ictal SPECT). This report describes the validation and utility of a computer-assisted method of subtracting the interictal from the ictal SPECT scans and co-registering the difference image on the MRI. This method, called subtraction ictal SPECT co-registered on MRI (SISCOM), is used in guiding the location and the extent of intracranial electrode implantation, or in obviating the need for the implantation in some cases.     

Female circumcision (female genital mutilation): a problem for brachytherapy in cervical cancer

Female circumcision is a traditional practice common in African countries. It involves partial or total removal of external female genitalia. It has led to many complications, in particular, the scarring of the external genitalia. The consequence is a very narrow introitus making the intracavitary brachytherapy treatment component difficult when these women develop cancer of cervix. We present two such cases from our institution. Our aim is to make the radiation and gynecological oncologists, both in developed and developing countries, aware of this practice and the problems they can encounter in the management of such cases. Intracavitary brachytherapy is an important component in the potentially curative role of radiation therapy for cervical cancer. Every effort should be made to ensure that the sequelae of genital mutilation does not deprive these women of the same standard of care as the general population.     

Risco Cardiometabólico em Crianças e Adolescentes: O Paradoxo entre Índice de Massa Corporal e Aptidão Cardiorrespiratória

BackgroundCardiometabolic risk has been shown to be inversely associated with cardiorespiratory fitness (CRF) and positively associated with body mass index (BMI).ObjectiveOur objective was to analyze the association of cardiometabolic risk factors with combined BMI and CRF in schoolchildren from a city in southern Brazil.MethodsCross-sectional study with a sample of 1252 schoolchildren aged seven to 17 years. Total cholesterol (TC), HDL-c, LDL-c, triglycerides (TG), systolic (SBP) and diastolic blood pressure (DBP) were evaluated. CRF and BMI were grouped into one variable and the schoolchildren were classified as eutrophic/fit, eutrophic/unfit, overweight-obese/fit, and overweight-obese/unfit. Crude and adjusted analyzes were performed using Poisson Regression and an alpha of 0.05 was adopted.ResultsOverweight-obese and fit schoolchildren showed a prevalence ratio (PR) of 1.50 (1.04 – 2.16) for altered TG, 3.05 (2.05 – 4.54) for elevated SBP, and 2.70 (1.87 – 3.88) for elevated DBP. Overweight-obese and unfit schoolchildren showed a PR for high TC of 1.24 (1.11 – 1.39) and 1.51(1.11 – 2.04) for low HDL levels. In addition, they had a risk of 2.07 (1.60 – 2.69) for altered TG, 3.36 (2.31 – 4.60) for elevated SBP and 2.42 (1.76 – 3.32) for altered DBP.ConclusionBMI played a central role in the association with risk and CRF was shown to attenuate the association between risk factors and obesity. Overweight-obese children and adolescents had a higher cardiometabolic risk, but the effect size was larger among the unfit.     

Acute otomastoiditis and its complications: role of CT

Acute bacterial (suppurative) otomastoiditis responds to antibiotic treatment; radiologic study is required only when there is clinical suggestion of coalescent mastoiditis, intracranial complications, or an underlying chronic disease. Computed tomography (CT) is the method of choice for evaluating otogenic intra- or extra-cranial complications. CT scans can show stages of disease progression when infection has spread by way of soft tissue, blood, and bone pathways into the dural venous sinuses, meninges, labyrinth, facial nerves, epidural and other intracranial spaces. When there is clinical suggestion of acute coalescent mastoiditis, a CT scan of the temporal bone can confirm the presence of rarefying osteitis, coalescence of the air cells, and subperiosteal abscess.     

Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q

SIR, The hereditary periodic fever syndromes are characterizedby recurrent episodes of fever due to multisystemic inflammation.In the case of autosomal dominantly inherited tumour necrosisfactor (TNF) receptor-associated periodic syndrome (TRAPS),these attacks are associated with severe abdominal pain, localizedmyalgia, painful migratory erythematous skin rash, conjunctivitisand/or periorbital oedema. TRAPS is caused by sequence alterationsin the TNFRSF1A gene, which encodes the 55-kDa TNF receptor[1]. Familial Mediterranean fever (FMF) is the most common autosomalrecessively inherited periodic fever syndrome. Attacks of FMFare of 1–3 days’     

Effect of Pluronic L-81 on intestinal lipoprotein secretion in the rat

The hydrophobic nonionic detergent Pluronic L-81 has been shown to lower plasma very-low-and low-density lipoprotein cholesterol, thus preventing diet-induced atherogenesis. The major effect of this agent is a pronounced interference with intestinal lipid metabolism. For studying mesenteric lymph lipoproteins during detergent exposure, a combined micromorphological and biochemical assessment of mucosa and lymph during steady-state lipid absorption was performed. Pluronic L-81 was infused intraduodenally at a constant rate in combination with mixed micellar solutions or saline in mesenteric lymph fistula rats. Pluronic L-81 impairs transepithelial lipid flux during fat absorption, trapping export lipids within the enterocytes and leading to a cytosolic and endoplasmic reticulum lipid accumulation sparing the Golgi region. Pluronic L-81 markedly (P<0.001) reduces mesenteric triglyceride, phospholipid, and total cholesterol secretion almost exclusively by a reduction of chylomicron formation. Chylomicron and very-low-density lipoprotein lipid composition was only insignificantly altered, except for somewhat higher phospholipid/triglyceride ratios. The chylomicron apoprotein pattern was almost unaffected. Thus, chylomicron formation decreased dramatically without major compositional alterations. The reduction of lipid and apoprotein secretion without particle augmentation is not in favour of a selective interference of Pluronic L-81 with intestinal apoprotein B-48 secretion.Parts of this work have been presented at the Annual Meeting of the American Gastroenterological Association, Washington, DC, May 1989, and published in abstract form (1).     

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one familial case and three sporadic patients were diagnosed through whole-exome sequencing and one patient was identified through genomewide array analysis. All patients were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 patients and 3D analysis of patients compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in children and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As ANKRD11 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases.