Re: Prediction of the fetal Kell blood group reduces aggressive interventions.
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Adult↗
Biomedical subjects
J Guimarães
Publications and source records attributed to J Guimarães.
Demographic of short gut syndrome: increasing demand is not followed by referral of potential candidates for small bowel transplantation.
BACKGROUND: Despite improvements in small bowel transplantation (SBTx), early referral of patients with irreversible intestinal failure (IF) remains a major obstacle. In this study we evaluated the demand for SBTx among seven surgical pediatric centers located at least 200 km from our center. METHODS: From 1997 to 2001, 640 patients have been treated for neonatal diseases, including 248 who underwent a minor or major intestinal resection. Twenty-four patients with major resections presented with short gut syndrome, requiring total parenteral nutrition (TPN). The greatest demand was in postsurgical neonates with necrotizing enterocolitis, gastroschiesis, onphalocoeles, or midgut volvulus, and in three adults with postradiotherapy arteritis (n = 2) and mesenteric vein thromboses (n = 1). The median length of residual bowel after resection was 20 to 30 cm, without an ileocecal valve. Four patients were referred for SBTx evaluation; three died while awaiting a donor; 20 were not referred, among whom 14 died of TPN complications. RESULTS: Approximately 62 children per year require nutritional support for IF, most of whom develop complications related to TPN. Because many patients who are TPN-dependent develop complications, we believe that early referral would reduce mortality. CONCLUSIONS: Greater medical awareness about the feasibility of SBTx procedures and earlier referral may improve results and quality of life after transplant.
Demography↗
Adult-onset neuronopathic form of Gaucher's disease: a case report.
We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD. In this adult-onset form, an akinetic-rigid syndrome poorly responsive to dopatherapy, supranuclear gaze palsy, myoclonic jerks, seizures, cerebellar ataxia, cognitive and psychotic disturbances are frequent manifestations. The widely used clinical classification seems inadequate since it does not consider this rare form of GD. Until further understanding of the pathogenesis of the disease is achieved it is not possible to predict accurately which patients will or will not have late-onset nervous system involvement.
Age of Onset↗
Progressive myoclonic ataxia and JC virus encephalitis in an AIDS patient.
A case of progressive myoclonic ataxia in an AIDS patient is described, which evolved over a 13 month period. The ataxia persisted as the only clinical finding for several months before the appearance of a severe tetraparesis and cachexia. Throughout the clinical progression, magnetic resonance imaging (MRI) revealed the presence of bilateral, progressive, isolated, and symmetrical lesions involving the red nuclei, subthalami, thalami, lenticular nuclei, and primary motor cortices. Neuropathological examination, supplemented by in situ hybridisation for JC virus DNA, confirmed that the lesions were those of progressive multifocal leucoencephalopathy (PML). The exceptional clinical presentation of PML in this case is the first report of progressive myoclonic ataxia caused by PML. The selective nature of the lesions confirms the role of the dentato-rubral-thalamo-cortical tract in the pathogenesis of progressive myoclonic ataxia. The atypical MRI findings further emphasise the need for expanded diagnostic criteria for PML in AIDS patients and support the use of more aggressive diagnostic methods as new treatments become available.
Acquired Immunodeficiency Syndrome↗
Aesthetic correction of mild pectus excavatum with autologous tissue during mastopexy.
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Adult↗
Bringing the scar inside the tattoo in top hat nipple reconstruction.
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Female↗
Paroxysmal dystonia induced by exercise and acetazolamide.
We report a case of a 40-year-old woman with dystonic attacks precipitated by slight exercise. Episodes lasted 2-5 min and were not precipitated by sudden movements or by being startled, drinking alcohol, coffee or tea, or by stress. Secondary dystonia was ruled out and brain magnetic resonance imaging (MRI) was unremarkable. Routine and video electroencephalogram (EEG) during and between attacks were normal. Acetazolamide greatly worsened her condition, whereas gabapentin [1-(aminomethyl) cyclohexaneacetic acid] treatment markedly reduced the frequency and severity of the episodes.
Acetates↗
Symptomatic paroxysmal hemidystonia due to a demyelinating subthalamic lesion.
We present a case of paroxysmal hemidystonia in a patient with an isolated demyelinating lesion in the subthalamic region, involving the posterior arm of the internal capsule and extending to the subthalamic nucleus and mesencephalon, possibly due to multiple sclerosis. Compared with similar reports in the literature, in our case there was a paucity of lesions, permitting a more direct clinico-anatomical correlation. The role of the subthalamic region and basal ganglia circuitry in the genesis of symptomatic dystonia is discussed.
Adult↗
[The secondary prevention of coronary disease: ACE inhibitors, adrenergic beta-blockers and statins for everyone? The arguments con].
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Adrenergic beta-Antagonists↗
[Clinical correlation of angiographic restenosis, isolated or associated with stress test variables, with a population that had stent implantation].
OBJECTIVE: We analyse the value of the clinical data, isolated or associated with the stress EKG (SEKG) variables, in the detection of angiographic restenosis (AR: lesion > 50%), in a group of patients (pts) submitted to coronary angioplasty (PTCA) with stenting. POPULATION AND METHODS: 105 patients were followed prospectively (male: 87%; age: 56 +/- 10); clinical evaluation was performed in the 1st, 3rd and 6th month, SEKG in the 4th month and recatheterization for angiographic control in the 6th month. The vascular risk factors, cause of admission, medication at discharge, angiographic and procedure characteristics were analysed. RESULTS: The most frequent vascular risk factors were hypertension (42%), smoking (64%), and dyslipidemia (52%); 30% had previous ischemic heart disease. The indication for PTCA was myocardial infarction (direct PTCA or residual ischemia) in 42% and angina in 59%. All patients were discharged with AAS and ticlopidine, 38% with beta-blockers, 59% with calcium channel blockers and 92% with nitrates. Thirty-eight percent had multivessel disease. They were submitted to dilatation with the implantation of 128 stents in 199 vessels. An intraaortic balloon pump was used in 13% and Abciximab in 47% of the procedures. In the recatheterization for angiographic control in the sixth month, 30 patients had angiographic restenosis (AR rate = 25.2%). In the clinical evaluation, 22 patients (20.9%) had angina, and 14 of them had angiographic restenosis (clinical restenosis rate = 13.3%). In the 16 asymptomatic patients with AR, 5 had positive SEKG. CONCLUSION: The presence of angina in a group of patients submitted to coronary angioplasty with stenting has a low sensitivity (54%), a good specificity (88%), a positive predictive value of 64% and negative of 83% in the detection of angiographic restenosis. The association with clinical data improves sensitivity (83%), with a decrease in specificity (61%).
Aged↗
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities. The disease is caused by mutations in the thymidine phosphorylase (TP) gene. TP protein catalyzes phosphorolysis of thymidine to thymine and deoxyribose 1-phosphate. We identified 21 probands (35 patients) who fulfilled our clinical criteria for MNGIE. MNGIE has clinically homogeneous features but varies in age at onset and rate of progression. Gastrointestinal dysmotility is the most prominent manifestation, with recurrent diarrhea, borborygmi, and intestinal pseudo-obstruction. Patients usually die in early adulthood (mean, 37.6 years; range, 26-58 years). Cerebral leukodystrophy is characteristic. Mitochondrial DNA (mtDNA) has depletion, multiple deletions, or both. We have identified 16 TP mutations. Homozygous or compound heterozygous mutations were present in all patients tested. Leukocyte TP activity was reduced drastically in all patients tested, 0.009 +/- 0.021 micromol/hr/mg (mean +/- SD; n = 16), compared with controls, 0.67 +/- 0.21 micromol/hr/mg (n = 19). MNGIE is a recognizable clinical syndrome caused by mutations in thymidine phosphorylase. Severe reduction of TP activity in leukocytes is diagnostic. Altered mitochondrial nucleoside and nucleotide pools may impair mtDNA replication, repair, or both.
Adult↗
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. OBJECTIVE: To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. RESULTS: Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure lateonset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. CONCLUSIONS: Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
Adolescent↗
Generalized freezing in Hallervorden-Spatz syndrome: case report.
We report the case of a female patient who was exhibiting slowly progressive, severe, generalized freezing of voluntary movement and disequilibrium. Brain magnetic resonance imaging showed a very low signal intensity in both pallidal nuclei, with a high signal intensity in the central portion, the so called 'eye-of-the-tiger' sign. Despite the unusual clinical features, we believe that this is a case of Hallervorden-Spatz syndrome, although without neuropathological examination we were unable to confirm the diagnosis with certainty. This case further demonstrates the complex role of the pallidum in voluntary movement.
Adult↗
[Angioplasty with stenting in single vessel disease: non invasive methods for detecting restenosis].
OBJECTIVE: To compare the value of the myocardial perfusion imaging with 99Tc sestamibi (MIBI) with clinical data and stress EKG (SEKG) variables, in the detection of angiographic restenosis (AR: lesion > 50%), in a group of patients (pts) with single vessel disease (angiographic lesion above 70% in one epicardial artery), submitted to coronary angioplasty (PTCA) with stenting. POPULATION AND METHODS: Fifty-nine pts, followed prospectively, (49 males and 10 females aged 57 +/- 10) were submitted to 61 angioplasties, with dilatation of 59 vessels, and with stenting in 63 (1.07 stent/vessel). Clinical evaluation was performed in the first, third and sixth month, SEKG with MIBI in the fourth month and recatheterization for angiographic control in the sixth month. The pts were divided in two groups: R-positive angiographic restenosis (AR)--14 pts: NR--without AR--45 pts; the angiographic restenosis rate was 23.7%. The patients' history, cause of admission, procedure characteristics, medication at discharge, clinical events during follow-up, variables of stress EKG associated with myocardial perfusion and angiographic control were analyzed. RESULTS: The cause of admission was the same in both groups (MI in R group: 28.6%; NR: 46.7%; p = ns). There was no difference in the discharge medication. The R group was more symptomatic (Angina: R = 50.0% vs NR = 11.1%; p < 0.001 clinical restenosis rate = 11.8%), and had more revascularization procedures (PTCA: R = 57.1% vs NR = 2.8%; p < 0.001/Bypass surgery: R = 14.3% vs NR = 0%; p = 0.01). This group had abnormal stress EKG more frequently (42.9 vs 20.0%, p = ns) and ischemia in the myocardial perfusion scintigraphy (57.1 vs 6.7% p < 0.001). [table: see text] CONCLUSION: The clinical and diagnostic tests evaluated in this study showed a limited sensitivity in the detection of angiographic restenosis in a group of patients with single vessel disease submitted to coronary angioplasty and stenting. Myocardial scintigraphy was the best method for the detection of angiographic restenosis, showing a high specificity and a reasonable sensitivity.
Angioplasty↗
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
The spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. To date, eight different loci causing SCA have been identified: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA6, SCA7, and dentatorubropallidoluysian atrophy (DRPLA). Expansion of a CAG repeat in the disease genes has been found in five of these disorders. To estimate the relative frequencies of the SCA1, DRPLA, MJD, SCA2, and SCA6 mutations among Portuguese ataxia patients, we collected DNA samples from 48 ataxia families and performed polymerase chain reaction (PCR) amplification of the CAG repeat mutations on chromosomes 6p, 12p, 14q, 12q, and 19p, respectively. Fifty-five individuals belonging to 34 dominant families (74%) had an expanded CAG repeat at the MJD gene. In five individuals from two kindreds with a dominant pattern of inheritance (4%), an expanded CAG repeat at the SCA2 gene was found. In MJD patients, the normal allele size ranged from 13 to 41, whereas the mutant alleles contained 65 to 80 repeats. For the SCA2 patients, normal alleles had 22 or 23, while expanded alleles had between 36 and 47 CAG units. We did not find the SCA1, DRPLA, or SCA6 mutations in our group of families. The MJD mutation remains the most common cause of SCA in Portugal, while a small number of cases are caused by mutations at the SCA2 gene, and 22% are due to still unidentified genes.
Adolescent↗
Does umbilical vein catheterization to exchange transfusion lead to portal vein thrombosis?
UNLABELLED: The aetiopathology of extrahepatic portal vein obstruction is unknown. In retrospective studies, umbilical vein cannulation and sepsis have been alleged to cause portal thrombosis. This prospective study was undertaken to detect whether thrombosis and consequent obstruction of the splenoportal venous system develops after umbilical vein catheterization for exchange transfusion in newborns using Doppler ultrasound. Forty children (M = 24; F = 16) who had undergone exchange transfusion for hyperbilirubinaemia were studied at school age. Maximal duration of the venous umbilical cannulation was 120 min and sepsis did not occur. Clinical, biological and sonographic examinations were normal, except in 3 children. In 2 the left branch of portal vein could not be identified (normal variant). CONCLUSION: Our results show that, in these children, umbilical vein catheterization did not lead to development of portal vein thrombosis. However, when other risk factors such as umbilical infection, traumatic catheterization are associated, children should be screened for obstruction of the portal vein.
Child↗
Efficacy and safety of norfloxacin 800 mg once-daily versus norfloxacin 400 mg twice-daily in the treatment of uncomplicated urinary tract infections in women: a double-blind, randomized clinical trial.
Norfloxacin 400 mg twice-a-day has proven to be effective and safe in the treatment of uncomplicated urinary tract infections (UTI). Since previous pharmacokinetic studies demonstrate the feasibility of using norfloxacin 800 mg once-daily, and this scheme is assumed to improve patient compliance, a double-blind randomized clinical trial was performed to compare the efficacy and safety of norfloxacin 800 mg once-daily (Group A) versus norfloxacin 400 mg twice-daily (Group B) in the treatment of adult female UTI for a 7-10 day period. Eighty-six adult women with clinical symptoms and urinary sediment signs suggestive of UTI were enrolled. In Group A, treatment was clinically assessed as effective in 95.3% and bacteriologically effective in 92.0% of the patients. In Group B, clinical and bacteriological efficacy was 100% and 95.5%, respectively. Differences between groups are not statistically significant. Adverse events were reported by 14.0% of patients in Group A and 9.6% in Group B (difference not statistically significant). There was one withdrawal due to dizziness. In this study, norfloxacin 800 mg once-a-day was as effective and safe as norfloxacin 400 mg twice-a-day in the treatment of uncomplicated urinary tract infections in women.
Adolescent↗