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Biomedical subjects

R Dominguez

Publications and source records attributed to R Dominguez.

At least 37 records · Page 2Linked to original sources

A common protein fold and similar active site in two distinct families of beta-glycanases.

The structure of Clostridium thermocellum endoglucanase CelC, a member of the largest cellulase family (family A), has been determined at 2.15 A resolution. The protein folds into an (alpha/beta)8 barrel, with a deep active-site cleft generated by the insertion of a helical subdomain. The structure of the catalytic core of xylanase XynZ, which belongs to xylanase family F, has been determined at 1.4 A resolution. In spite of significant differences in substrate specificity and structure (including the absence of the helical subdomain), the general polypeptide folding pattern, architecture of the active site and catalytic mechanism of XynZ and CelC are similar, suggesting a common evolutionary origin.

Amino Acid Sequence↗

Crossed cerebellar atrophy in children: a neurologic sequela of extreme prematurity.

Unilateral atrophy of a cerebellar hemisphere occurring as a sequela of ischemic or destructive injury of the contralateral cerebral hemisphere is uncommon in children. We reviewed our experience with this phenomenon and found an unexpected association with extreme prematurity and a complicated perinatal course with a poor subsequent neurologic outcome. We retrospectively identified eight children, aged 8 months to 13 years, in whom cerebellar atrophy associated with cerebral injury was diagnosed on MR or CT, and reviewed their past medical history, neurologic findings, and neuroimaging studies. Seven patients were born extremely premature, EGA 25-28 weeks, and had severe perinatal intracranial hemorrhage. Neurologic problems include severe developmental delay in seven, spastic paresis in six, and seizures in five. Neuroimaging showed severe unilateral holohemispheric atrophy in four, bilateral asymmetric holohemispheric atrophy in two, and left temporoparietal atrophy in one. Cerebellar atrophy was unilateral in five and bilateral but asymmetric in two. Gliosis of the atrophic cerebellum occurred in one patient. Sequential neuroimaging in one patient showed evolution of crossed cerebellar atrophy at 8 months of age. The final patient, a term infant, had an idiopathic perinatal left cerebral infarct. In our experience, crossed cerebellar atrophy was an uncommon manifestation of extreme prematurity complicated by severe intracranial hemorrhage and/or ischemic necrosis of white matter. The cerebellar atrophy is most often a secondary degenerative phenomenon rather than a result of direct cerebellar injury.

Atrophy↗

Characterization of two crystal forms of Clostridium thermocellum endoglucanase CelC.

Endoglucanase CelC from Clostridium thermocellum expressed in Escherichia coli has been crystallized in two different crystal forms by the hanging drop method. Crystals of form I were grown with polyethylene glycol as a precipitant. They are orthorhombic, space group P2(1)2(1)2(1), with cell dimensions a = 51.4 A, b = 84.3 A, and c = 87.5 A. Crystals of form II, obtained in ammonium sulfate solutions, belong to the tetragonal space group P4(1)2(1)2 (or P4(3)2(1)2) with cell dimensions of a = b = 130.7 A and c = 69.6 A. Diffraction data to 2.8 A resolution were observed for both crystal forms with a rotating anode generator. Preliminary oscillation images of the orthorhombic form I crystals using a synchrotron radiation source show diffraction to 2.2 A resolution, indicating that these crystals are suitable for high resolution crystallographic analysis.

Cellulase↗

Gorham's disease or vanishing bone disease: plain film, CT, and MRI findings of two cases.

Gorham's disease may develop in any region of the skeleton, but shows a predilection for the bones of the shoulders and pelvic girdles. Less frequently, the disease may involve the spine, and it is the proximity to the spinal cord which may worsen the patient's outcome. We report the clinical outcomes of two children with typical, yet differently localized involvement, and also review the plain film, CT and MRI findings.

Cervical Vertebrae↗

Pulsatile versus continuous oxytocin infusion for the oxytocin challenge test.

In a prospective study, 140 patients had an oxytocin challenge test with either a continuous or a pulsed infusion (one minute of infusion in every five minutes). Both infusion regimens had similar success rates in terms of uterine contractions (97.1 vs 98.6%). The potency ratio (pulsed versus continuous infusion) was significant at 2.7 (1.27 to 5.2), which means that more uterine activity was induced with each mU of oxytocin with pulsatile than with continuous administration. The total amount of oxytocin required to obtain three good contractions in 10 minutes was about 40% less with pulsed administration than with continuous infusion, but the test took 40 minutes longer with the pulsed than with the continuous infusion (P < 0.01).

Adult↗

Different effects of unilateral and bilateral lesions of the dorsal raphe nucleus on puberty and first ovulation.

The effects of unilateral and bilateral electrolytic lesions of the dorsal raphe nuclei (DRN) of 30-day-old rats, on the spontaneous and induced ovulation, were analyzed. The bilateral lesion and the lesion on the right side of the DRN delayed the age of first vaginal estrous. None of the animals with bilateral lesion on the DRN ovulated on the day of first estrous (0/8 vs. 12/15, p < 0.05). The ovulation rate in animals with unilateral lesion on the DRN was similar to sham-operated animals, but the number of ova shed by ovulating animals increased in the ovary ipsilateral to the lesion (lesion on right DRN, right ovary: 6.5 +/- 0.5 vs. 4.5 +/- 0.4; lesion on left DRN, left ovary: 6.4 +/- 0.3 vs. 4.2 +/- 0.4, p < 0.05). By the injection of human chorionic gonadotropin, ovulation was restored in rats with a bilateral lesion on the DRN (3/5 vs. 0/8, p < 0.05). The present results suggest that serotoninergic input to the hypothalamus, arising from the DRN, exerts a facilitatory influences on the control of luteinizing hormone release. To explain the increase in the number of ova shed by the left and right ovary, observed in rats with an ipsilateral lesion, we suggest the existence of a neural connection between the DRN and the ovary.

Animals↗

[Larsen syndrome: multicenter study of 12 new cases. Diagnosis, planning and results of treatment].

Larsen's syndrome is characterized by the association of congenital knee, hip and elbow dislocations, characteristic facial abnormalities, joint hyperlaxity, and other inconstant malformations. A review is made after description of 12 new cases from a multicenter study. A partial modification of diagnostic criteria is proposed, based on the analysis of the frequency and localization of the deformities. Radiological aspects, surgical indications, clinical evolution, complications and late results are presented, with emphasis on lower extremity problems. Good clinical results are more remarkable in the children treated early. Periodic follow-up is obligatory for good therapeutic results.

Abnormalities, Multiple↗

Caudal duplication syndrome.

OBJECTIVE: To present the clinical and roentgenographic features of caudal duplication syndrome. DESIGN: Retrospective review of the medical records and all available imaging studies. SETTING: Two university-affiliated teaching hospitals. PARTICIPANTS: Six children with multiple anomalies and duplications of distal organs derived from the hindgut, neural tube, and adjacent mesoderm. INTERVENTIONS: None. RESULTS: Spinal anomalies (myelomeningocele in two patients, sacral duplication in three, diplomyelia in two, and hemivertebrae in one) were present in all our patients. Duplications or anomalies of the external genitalia and/or the lower urinary and reproductive structures were also seen in all our patients. Ventral herniation (in one patient), intestinal obstructions (in one patient), and bowel duplications (in two patients) were the most common gastrointestinal abnormalities. CONCLUSIONS: We believe that the above constellation of abnormalities resulted from an insult to the caudal cell mass and hindgut at approximately the 23rd through the 25th day of gestation. We propose the term caudal duplication syndrome to describe the association between gastrointestinal, genitourinary, and distal neural tube malformations.

Abnormalities, Multiple↗

Congenital primary cerebral angiosarcoma: CT, US, and MR findings.

Congenital primary intracranial angiosarcoma (CAS) is an exceptionally rare tumor. To our knowledge the imaging features of intracranial angiosarcomas have only been briefly mentioned in the neuropathologic literature. To our knowledge, only one case of CAS has been reported. We present a case of a pathologically proven CAS found in a neonate.

Brain Neoplasms↗

Congenital lymphangiectatic elephantiasis.

A case of a child with a rare giant congenital cavernous lymphangioma giving rise to elephantiasis of the left lower extremity is presented. Plain radiographs revealed underlying bone lesions and magnetic resonance (MR) imaging accurately defined extension of the process into the pelvis and retroperitoneum.

Child↗

Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs.

We describe 10 infants with developmental delay and congenital cerebral anomalies who were found to have had in utero exposure to vasoactive drugs. Nine infants had ophthalmological abnormalities; these included strabismus, nystagmus, and/or hypoplastic optic discs. Six mothers used cocaine, one used cocaine and heroin, one used only heroin, one used amphetamine, and one used phenylpropanolamine. Each of these cerebral anomalies (agenesis of the corpus callosum, septo-optic dysplasia, schizencephaly, hydranencephaly, congenital hydrocephalus, porencephaly, and cerebral infarctions) can be attributed to insults at different stages of development. There appears to be a relationship between the time of prenatal drug exposure and the type of cerebral anomaly, evoking malformations, disruptions, or fetal strokes. Since many or possibly all of these anomalies are thought to have a vascular origin, it seems appropriate to implicate prenatal exposure to vasoactive drugs.

Ataxia↗

Idiopathic colonic perforation in the neonate.

We describe a premature infant in whom spontaneous perforation of the colon was initially detected on routine abdominal films. There was no clinical evidence of necrotizing enterocolitis, peritonitis, or bowel obstruction. Surgical and pathologic findings confirmed the diagnosis of idiopathic bowel perforation. Since spontaneous gastrointestinal perforation in the neonate is often difficult to diagnose clinically, radiographic evaluation may allow earlier diagnosis and prompt surgical treatment of this life-threatening condition.

Colonic Diseases↗

Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis.

A 10-year-old boy with Conradi-Hunermann disease diagnosed at birth who developed progressive myelopathy is presented. Despite the many descriptions of Conradi-Hunermann disease in infants and young children, long-term follow-up of this disease is rarely reported. Magnetic resonance imaging (MRI) played a critical role in the diagnosis of this patient's rare neurological dysfunction by demonstrating bony deformity and associated cord compression at the cervicothoracic junction. This area is often difficult to evaluate by conventional radiographic techniques.

Cervical Vertebrae↗

Neurocristopathy syndrome: review of four cases.

Aberrant embryologic development of the neural crest may clinically result in one of several patterns of malformation. Four examples of the neurocristopathy syndrome are described that collectively feature a very broad range of expression in these infants. Because of the many expressions, the syndrome may not be recognized. We believe that greater familiarity with the disorder will aid in the discovery of unsuspected anomalies and provide clues about predisposing etiologies.

Abnormalities, Multiple↗

Effects of neonatal androgenization on the chromatofocusing pattern of anterior pituitary FSH in the female rat.

Anterior pituitary glands were removed from neonatally androgenized (100 micrograms testosterone propionate) female rats and normal controls at 5, 10, 18, 21, 30, 60 and 90 days of age, and the multiple forms of FSH present within them were separated by chromatofocusing (pH range 7.5-4.0). Additional pituitary glands from intact adult males (90 days old) were also studied for comparative purposes. All animal groups exhibited multiple forms of immunoactive FSH within a pH range of 7.5-4.0, as well as an additional FSH form obtained after the addition of 1.0 mol NaCl/l to the chromatofocusing column (salt peak). In animals 5-30 days old (controls and androgenized) the majority of FSH applied to the chromatofocusing columns was recovered within the salt peak (45-85% of total FSH immunoactivity recovered). However, as the animals aged, more FSH immunoactivity focused within less acidic regions (isoelectric point (pI) 5.9-5.0); pituitaries from animals 60 days old contained the greatest proportion of FSH focused within this pH range (controls, 39.2 +/- 0.6%; androgenized, 23.1 +/- 0.9% of total immunoactivity recovered; P less than 0.03 vs animals 30 days old for both experimental groups). This shift towards less acidic FSH was attenuated in androgenized animals compared with the controls (P less than 0.01). In control adult rats, the chromatofocusing distribution pattern of pituitary FSH varied according to the day of the oestrous cycle. Pituitary extracts from control rats decapitated during the morning of pro-oestrus, oestrus and day 1 of dioestrus exhibited the highest proportion of immunoactive FSH (23.2-28.8% of total) focused within a pH range of 5.9-5.0, whilst only 10.4-11.6% of FSH from androgenized rats and those on day 1 of dioestrus was recovered within this pH range (P less than 0.05). In control animals decapitated during the morning of pro-oestrus and oestrus, 10-26% of FSH focused within the most alkaline region (pI 7.5-6.0); the chromatofocusing pattern of pituitary FSH from the neonatally androgenized animals was characteristic, in that no more than one peak (1.5 +/- 0.5% of total) was detected in this alkaline region. In the adult male rats, the majority of pituitary FSH eluted from the chromatofocusing columns within a pH of 4.9-4.0 (52.4 +/- 1.2% of total FSH immunoactivity) and the salt peak (pH less than 4.0) (33.1 +/- 2.4 of total). All FSH isoforms obtained after chromatofocusing represented alpha and beta dimers as disclosed by size exclusion chromatography.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗

Congenital generalized fibromatosis.

Congenital fibromatosis is a rare form of fibroblastic proliferation, which may appear similar to fibrosarcoma; it is multicentric, involving soft tissues, viscera, and bones. The larger soft tissue tumors are very hemorrhagic and necrotic, and they may contain calcifications. Because these characteristics are also present in the more common hemangiomas of infancy, congenital fibromatosis can be diagnosed erroneously as hemangioma. We report a case of congenital generalized fibromatosis erroneously diagnosed initially as hemangioma. The multicentric tumor was aggressive, ultimately resulting in death.

Calcinosis↗