Metabolic dysfunction in Russell-Silver syndrome.
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Female↗
Biomedical subjects
E Parano
Publications and source records attributed to E Parano.
Congenital muscular dystrophy: correlation of muscle biopsy and clinical features.
Six patients with congenital muscular dystrophy examined from January, 1990 to January, 1993 are presented. Vastus lateralis muscle biopsies were performed on all patients. Five of 6 patients had "pure" congenital muscular dystrophy without evidence of central nervous system disease. Of these 5 patients, 2 had mild courses, 2 moderate, and 1 severe. Possible correlation between severity of muscle pathology and severity of clinical course in "pure" congenital muscular dystrophy patients is discussed.
Biopsy↗
Congenital muscular dystrophy with syringomyelia.
We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance imaging to detect potential spinal cord abnormalities, in addition to cranial magnetic resonance imaging to detect potential cerebral malformations.
Biopsy↗
Neonatal peripheral hypotonia: clinical and electromyographic characteristics.
Hypotonia is a common occurrence in pediatrics, especially in the neonatal period. The hypotonic neonate represents a diagnostic challenge for the general pediatrician because hypotonia may be caused by a lesion at any level in the neuraxis: (1) central nervous system (CNS), (2) peripheral nerves (PN), (3) neuromuscular junction, or (4) muscles. Distinguishing among these pathologies is a particularly arduous task. This review will discuss the clinical approach to neonatal hypotonia with emphasis on disorders of the peripheral nervous system and muscle, and the importance of the electrophysiological study as a diagnostic test.
Electromyography↗
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval at 13q14.3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1. The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
Adenosine Triphosphatases↗
Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood.
Peripheral nervous system maturation in infancy and childhood varies with age, especially during the first 2 years of life. Electrophysiologic values therefore changes significantly between different age groups within these first 2 years and are different from adult values. Normal values of motor and sensory nerve conduction, distal motor latency, F-wave latency, and evoked response amplitude of peripheral nerves commonly tested are reported in 155 healthy children in seven age groups from 1 week to 14 years. Interval changes are clearly shown, and in comparison with adult values, the whole group has significantly slower nerve conduction velocities, with reduced muscle and nerve evoked response amplitudes. These differences are important to recognize when evaluating the peripheral nervous system of children.
Adolescent↗
Syndactyly type 1 with cataracts and mental retardation.
We report a child affected by a malformation syndrome characterized by unusual facies, congenital cataracts, mental retardation, bilateral soft tissue syndactyly of the 3rd and 4th fingers and bilateral partial syndactyly of the 2nd and 3rd toes. The overall clinical picture in this patient is not similar to other cases previously reported.
Abnormalities, Multiple↗
Plasma beta-endorphin levels and natural-killer cells in two cases of congenital indifference to pain.
We have investigated plasma beta-endorphin (beta-E), ACTH, and cortisol in two cases of congenital indifference to pain (CIP), a rare syndrome characterized by unresponsiveness to painful stimuli. As the two patients had frequent skin infections, we also studied lymphocyte response to mitogens in the absence or presence of beta-E. In addition, we explored a series of lymphocyte membrane antigens related to different aspects of the immune response, such as CD3+, CD4+, CD8+, B, NK Leu 7, Leu 9, and Leu 19, anti-interleukin-2 receptor (anti-TAC). Plasma beta-E levels in the two patients were significantly higher than in controls, whereas plasma ACTH and cortisol levels were normal. Lymphocyte response to the mitogen phytohemagglutinin was normal. The expression of Leu 7, Leu 9, and Leu 19, three antigens related to natural killer cells, was decreased by about 50%. The results indicate that in the two cases of CIP studied, high plasma beta-E levels are associated with a reduction in the expression of natural killer cells. This suggests that the two phenomena are specifically related to each other. These data represent further evidence of the possible pathophysiological relevance of the neuroendocrine-immune feedback.
Adolescent↗
Limb reduction defects in humans associated with prenatal isotretinoin exposure.
Retinoic acid has long been used to induce limb reductions defects in experimental animal studies. No limb malformations, however, have been reported among malformed retinoic acid-exposed human fetuses from case reports or epidemiologic studies. We report a child and a fetus with limb reduction malformations following maternal use of isotretinoin (13-cis-retinoic acid) during the first trimester of pregnancy. The child had a unilaterally absent clavicle and nearly absent scapula, with a short humerus and short, synostotic forearm bones. He also had ventriculomegaly and developmental delay, minor dysmorphic facial features, and a short sternum with a sterno-umbilical raphe. The fetus had a unilaterally absent thumb with normal proximal bony structures. Other findings included hydrocephalus, craniofacial anomalies, thymic agenesis, supracristal ventricular septal defect, single umbilical artery, anal and vaginal atresia, and urethral agenesis with dysplastic, multicystic kidneys. Although the limb malformations were quite dissimilar, a number of anomalies that are frequently found among isotretinoin-exposed fetuses/infants were present in both cases. This increases the probability that retinoic acid caused these limb defects, but a causal association cannot be conclusively drawn on the basis of these two retrospective case reports.
Abnormalities, Drug-Induced↗
Chronic inflammatory demyelinating polyneuropathy in childhood: clinical and electrophysiological features.
Five children with chronic progressive polyneuropathy but no familial history of it showed electrophysiological evidence of demyelination with partial conduction block, temporal dispersion, and focal slowing of nerve conduction velocities in multiple nerves. These findings are indicative of an acquired demyelinating polyneuropathy that is chronic and inflammatory and differentiate this condition from most of the inherited neuropathies. It is very important to recognize this entity because of the availability of various treatments.
Child↗
Late-onset globoid cell leukodystrophy. Report on seven new patients.
During the past 12 years, ten cases of globoidcell leukodystrophy (GLD) have been followed up: seven of these patients were affected by the late infantile form. The authors point out the clinical aspects and the course of these patients and stress the high frequency of this form of GLD in Sicily.
Brain↗
Walker-Warburg syndrome.
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Anterior Chamber↗
Proteus syndrome: report of a case with severe brain impairment and fatal course.
A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
Abnormalities, Multiple↗
Late febrile convulsions: a clinical follow-up.
A joint study was performed on patients from the Pediatric Clinics of Catania and Modena. Two hundred and twenty-two children who presented with febrile convulsions (FC) after the age of six years (LFC) were followed up in order to evaluate the risk of recurrence and type of convulsions. The overall results showed that 94 patients out of 222 (42.3%) had subsequent fits, both febrile and afebrile. The present study suggests that the risk of subsequent afebrile crises in LFC is higher (15.8%) than observed after "simple" FC (2-3%) and similar to that reported after "complex" FC (13-17%).
Anticonvulsants↗
A very aggressive form of facial hemangioma.
A 3-month-old girl had a massive, particularly aggressive mixed hemangioma involving the right hemiface, with severe ulcerations of the ear lobe and nasal septum. She also showed cerebral anomalies consisting of cerebellar vermis agenesis and cerebellar right atrophy. Despite treatment with corticosteroids, the child died at age 4 months.
Cerebellum↗
[Surgical therapy in gastroesophageal reflux disease].
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Female↗
New trends in cesarean section.
The Authors studied the frequency of Cesarean section in relation to deliveries in the last trimester of pregnancy, the frequency of repetitive Cesarean section, age and parity of the patients, indication for cesarean section, week of delivery, and perinatal and maternal morbidity and mortality at the First Clinic of Obstetrics and Gynecology, University of Catania, Catania, Italy, from 1972 to 1974 and from 1983 to 1985. The frequency of Cesarean section has increased from 12.07% (735 cases out 6,086 deliveries) to 16.89% (837 cases out of 4,955 deliveries). There was a decrease in frequency of repetitive Cesarean section from 30.47% (224 cases) to 27.95% (234 cases) and in perinatal mortality rate from 4.35% (32 cases out of 735) to 3.19% (27 cases out of 845 newborn). There were no cases of maternal death, while the most common cause of maternal morbidity was uterine atonia. From 1972 to 1974 mechanical causes were the most frequent indication for Cesarean section (28.16% -207 cases), while from 1983 to 1985 previous hysterotomy (32.73% -274 cases) was the main indications for Cesarean section.
Adult↗
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.
The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported. These findings, as well as the role of the EMG and muscle biopsy as diagnostic tools, are discussed. The study suggests that the frequency of SMA in some areas of Sicily is high, possibly correlating with a relatively high gene frequency.
Age of Onset↗