Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?
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Adenosine Triphosphatases↗
Biomedical subjects
J L Olivares
Publications and source records attributed to J L Olivares.
Skinfold measurements at birth: sex and anthropometric influence.
Weight, length, and skinfold thicknesses were measured in 4634 term and preterm neonates. Sex and weight/length ratio were important determinants of the amount and distribution of the subcutaneous fat store at birth. Gestational age, weight, length, and other ponderal indices did not explain subcutaneous fat variability.
Adipose Tissue↗
Jugular venous malformation in an 8-year-old boy: treatment with endovascular sclerotherapy.
UNLABELLED: An 8-year-old male presented with a mass in the left supraclavicular region first noted 3 months earlier and which gradually became more prominent. Ultrasound showed a lobular, well-delineated hypoechoic lesion which increased in size on Valsalva manoeuvre. Doppler waveform analysis suggested a slow flow vascular lesion. Venography showed a saccular, multilobular venous malformation which connected with the external jugular and subclavian veins. With an angiographic catheter, the venous malformation was treated by endovascular sclerotherapy. Four weeks later, ultrasonography showed a resolution of the lesion. CONCLUSION: Endovascular sclerotherapy appears to be an effective and safe treatment for jugular venous malformation.
Child↗
Three-loci HLA haplotypes in Spanish celiac children and healthy subjects: estimation of linkage disequilibrium and haplotype frequencies.
OBJECTIVES: The aim of this study was to compare the linkage disequilibrium parameters and the frequencies of the three-loci HLA haplotypes in children with celiac disease and in a control population within the same geographical area. METHODS: A total of 38 celiac children were studied. HLA typing was performed by microlymphocytotoxicity assay using T and B cells separated by monoclonal antibody labeled immunomagnetic particles (IMB). Three-loci haplotype frequency (pABC) depend on each gene frequency (pA, pB, and pC), and a correction factor (delta) and takes the form: pABC = pA x pB x pC + delta ABC. The existence of a linkage disequilibrium was assessed by chi2 test using 2 x 2 x 2 contingency tables for gametic association. RESULTS: There was a higher frequency of A1/B8/Cw7, A1/B8/DR3, A1/B8/DQ2, A19/B12/DQ2, B8/Cw7/DR3, B8/Cw7/DQ2, B8/DR3/DQ2, and B12/DR7/DQ2 in celiac children than in the control population. CONCLUSIONS: From the comparative study of celiac and healthy population within the same area, we conclude that these three-loci haplotypes could determine genetic susceptibility to celiac disease.
Adolescent↗
Associated phoria in relation to stereopsis with random-dot stereograms.
In the present work, we use random-dot stereograms to test a possible relationship between associated phoria and stereopsis. We determined, using a modified constant-stimulus method, the disparity range that indicates the maximum range at which stereoscopic correspondence can be achieved. A total of 27 observers took part in the experiment. The value of the disparity range as a function of the associated phoria (measured with a Mallet unit) seems to indicate that greater associated phoria (fixation disparity) correlates with a deterioration in stereoscopic vision, reducing the disparity range and therefore the space region in which stereoscopic vision can be attained.
Adult↗
Atopy and pulmonary function abnormalities in children with a history of acute bronchiolitis.
To assess the relationship between acute viral bronchiolitis and subsequent development of asthma, we studied retrospectively 97 index children, aged between 9 and 14 years, and 52 controls. The bronchiolitis group showed significantly lower values for mean expiratory flow at 50% of vital capacity (MEF50) higher incidence of atopy, and were more sensitive to methacholine than were controls, even if they had not shown recurrent wheezing episodes. It is suggested that an increased incidence of atopy, bronchial hyperresponsiveness, and reduced expiratory flows may be detectable in children with a history of acute bronchiolitis, regardless of the fact that they did not develop subsequent clinical symptoms suggestive of bronchial asthma.
Acute Disease↗
Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.
The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.
Adolescent↗
[Cortical renal scintigraphy and urinary tract infection].
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Animals↗
Severe malformations in males from families with osteopathia striata with cranial sclerosis.
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the long bones and sclerosis of the craniofacial bones. Affected patients show macrocephaly, ocular hypertelorism, frontal bossing, broad nasal bridge and abnormalities of the palate. Anomalies such as hearing loss, congenital heart defect, vertebral anomalies and mental impairment have also been reported. Pedigree analysis has suggested an autosomal dominant inheritance, but a recent report of a family with significantly more affected males than females suggested the possibility of X-linked inheritance. Here we describe a new family with OS-CS (the twelfth in the literature) with four affected individuals (two males and two females) spanning three generations. The affected male in the third generation was stillborn with multiple congenital anomalies, whereas the other three affected individuals had mild features. This family may represent another example of X-linked OS-CS where the mutated gene(s) is more severe in males.
Abnormalities, Multiple↗
Seasonality of cryptosporidiosis in children.
The seasonal distribution of cryptosporidiosis in children in Aragón, a region in northeastern Spain, was determined. Over a period of six years (October 1988 to September 1994), 10,034 stool samples from 4,508 children with gastrointestinal symptoms were analyzed for this purpose. The age of the patients ranged from 1 month to 14 years. Cryptosporidium oocysts were identified in 87 (1.93%) patients. Prevalence was highest (6.20%) in children aged 1 to 3 years old. The prevalence was significantly higher in the autumn-winter period (October to March) than in the spring-summer period (April to September) in the whole population (2.41% vs. 1.35%, p = 0.010) and in the 1- to 3-year-old age group (8.44% vs. 3.20%, p = 0.002), but not in the other age groups. A possible relationship of this pattern to attendance at child care centres is suggested.
Adolescent↗
[Histopathological and functional study of the kidney in non-insulin dependent diabetes mellitus].
The histopathological characteristics of the kidney using light microscopy and immunofluorescence studies in samples obtained by renal percutaneous biopsy in 19 women and 7 men with non-insulin dependent diabetes mellitus (NIDDM) (mean of age: 55.07 +/- 9.04 yr and mean of "known" diabetes duration: 7.50 +/- 6.87 yr) were studied. The relationship with age, blood pressure, diabetic retinopathy and other complementary diagnostic methods such as serum creatinine (Cr), creatinine clearance (CrC), renal plasma flow (RPF), proteinuria and filtration fraction (FF) were also determined. Light microscopy studies detected 92.3% of patients with renal lesions of different degrees of severity. The presence and severity of glomerulopathy and arteriolopathy were related to diabetes duration (r: 0.764) and they were related to each other (rs: 0.773). In 2 patients, lesions were not observed and in 11 out of 14 patients with less than 5 yr of diabetes duration, mild lesions were detected. However, the histological changes became worse after that period. The glomerulopathy was also statistically correlated with Cr, CrC, RPF, proteinuria and FF. By immunofluorescence, fibrinogen, IgA and C3 were the most frequent and intense precipitates observed. They increased with diabetes duration and were located predominantly in the wall and the periphery of the glomerules and in renal tubules, suggesting that they originated by trapping. There were no precipitates in the mesenchyma, they were scarce in the interstice, Bowman's capsule and arterioles. Statistical correlation between diabetic histopathological renal changes and retinopathy was found. These results confirm that lesions in the kidney and retina in non-insulin dependent diabetic patients generally appear and evolve in a similar manner. Hypertension was diagnosed in 80.76% of patients, without statistical correlation between blood pressure and renal lesions. This suggests that at the onset, in non-insulin dependent diabetic patients hypertension and nephro-pathy are caused by different and independent pathogenic mechanisms. However, at an end stage, it seems that both situations can influence each other in a way that their evolution becomes more severe. Nephropathy in non-insulin dependent diabetes mellitus displayed scarce clinical signs and poor laboratory evidence except when the renal lesions become too severe. The lack of correlation between renal lesions and patients' age and blood pressure suggests the participation of diabetes at the onset of kidney structural impairment.
Adult↗
[Möbius syndrome and bilateral chorioretinal coloboma].
A child with palsy of the right facial nerve and bilateral palsy of the VIth, IXth and XIIth cranial nerves, dysfunction of the VIIIth cranial nerve, facial malformations and bilateral equinovarus was diagnosed on the basis of these features as having Moebius syndrome. Ocular studies disclosed congenital cataract and chorioretinal coloboma in both eyes. These ocular abnormalities have not previously been described in Moebius syndrome. This paper discusses whether the coexistence of these two types of anomalies may be due to occurrence of a break in the primitive internal carotid and trigeminal arteries between the fourth and fifth postconceptional weeks, causing maldevelopment of the choriocapillary and impairing neuron differentiation in cranial nerve nuclei.
Choroid↗
[Selective immunosuppressive agents: cyclosporine].
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Child↗
Giant meningioma in a 5-month-old infant.
A case of intracranial meningioma is reported in a 5-month-old infant. To date, 25 cases have been reported in the world literature in children less than 1 year of age. Macrocephaly was the most prominent clinical finding. Skull radiological studies, head CT scans, and cerebral angiography were definitive tools in making the diagnosis. Pathological analysis was conclusive. Complete surgical extirpation was the treatment of choice; the tumor weighed 600 g. The child remains stable 24 months later.
Cerebral Angiography↗
[Terminal partial mosaic monosomy of the short arm of chromosome 3, in discordant monozygotic twins, 46,XY/46,XY, del (3) (p25)].
A 22 months old male child, a second monozygotic twin with distal partial monosomy of the short arm of chromosome 3 in mosaicism and anomalies in dermatoglyphics is described. Patient presents retardation of intrauterine and postnatal growth, psychomotor retardation, microcephalia, mongoloid deviation of palpebral clefts, macroglossia with constant sucking, congenital cardiopathy cryptorchism, hypospadias and generalized hypertonia. Twin is a normal infant with normal karyotype. Genotypic similarity and clinical picture is discussed.
Chromosome Banding↗
[Cryptosporidiosis in childhood].
Recent application of resisting acid-fast staining techniques for parasitologic investigation has allowed cryptosporidiosis to acquire an apparent interest, mainly caused by its apparition in immunosuppressed patients, specially when they have AIDS. More recently cryptosporidiosis has been reported in immunocompetent persons whose illness, stated as acute diarrhea, is mild and self-limited. In this article we report a prospective study of a series of 36 children with cryptosporidiosis. Most of them had acute diarrhea and six were asymptomatic. Other microorganisms were found associated with Cryptosporidium in 9 cases (6 had Giardia lamblia). Period of elimination of parasite was greatly uncertain. Symptomatic treatment was performed in patients with pure cryptosporidiosis. Favourable evolution was assessed in all cases.
Adolescent↗
[Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].
Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects.
Adult↗
[Intrauterine growth retardation and severe congenital cardiopathy in the male child of a mother with terminal renal insufficiency under chronic hemodialysis].
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Adult↗