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corneal opacity/seizures
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Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.
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Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
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Gomez-Lopez-Hernandez syndrome is a very rare genetic disorder with a distinct phenotype (OMIM 601853). To our knowledge there have been seven cases documented to date. We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia,
[Anesthetic management of a patient with 8 trisomy mosaic combined with cerebral palsy].
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We administered general anesthesia for a patient with 8 trisomy mosaic and cerebral palsy. Constitutional 8 trisomy mosaic has been associated with syndromic dysmorphology, corneal opacities, leukemia and trophoblastic disease. In Japan only 4 reports of general anesthesia related with 8 trisomy
[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness].
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Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy,
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.
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BACKGROUND Hereditary spastic paraplegia (HSP or SPG) consists of a heterogeneous group of disorders, clinically divided into pure and complex forms. The former is characterized by neurological impairment limited to lower-extremity spasticity. The latter presents additional symptoms such as
Acute and subacute toxicology and safety evaluation of triphenyl tin hydroxide (Vancide KS).
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The acute oral LD50 in Sprague-Dawley rats was determined to be 171 mg/kg (100-295) for males and 268 mg/kg (205-344) for females. 2. A 1 ppm dietary supplement of Vancide KS for 90 days did not induce any abnormalities in weanling Sprague-Dawley rats. The parameters evaluated were serum
Canine Lyme disease: clinical and serological evaluations in 21 dogs in Japan.
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Of 21 dogs from Sapporo, Hokkaido that had been recognised as having been bitten by ticks, 16 were seropositive to Borrelia burgdorferi by ELISA. Thirteen of the seropositive dogs showed signs such as fever, astasia, convulsions, anorexia, fatigue, abnormal gait, nervous signs, diarrhoea, corneal
Experimental intoxication by the mushroom Ramaria flavo-brunnescens in sheep.
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Ramaria flavo-brunnescens collected in autumn from 1990 to 1994 was orally administered to 11 sheep. These animals were dosed with 100-430 g/kg bw administered over 3-13 d. Six sheep showed clinical signs and 4 of them died. The mininum toxic dose was of 150 g/kg bw. Clinical signs were anorexia,
[A 4-week repeated percutaneous dose toxicity study of calcipotriol (MC903) followed by a 4-week recovery test in rats].
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A 4-week repeated percutaneous dose toxicity of calcipotriol (MC903), an anti-psoriasic agent, followed by a recovery for 4 weeks was studied in Slc:SD rats at doses of 4, 20 and 100 micrograms/kg/day as low, mid and high dose levels. 1. One male and female at high dose died probably due to stress
Carcinogenicity of hexachlorocyclohexane (BHC) in pure inbred swiss mice.
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Inbred Swiss mice were treated with technical BHC (1) orally with the diet or by intubation and (2) by skin painting. The total duration of the experiment was 80 weeks. There was no difference in body growth and mortality between the experimental and control groups. Symptoms of intoxication in the
Carcinogenicity of DDT (dichlorodiphenyl trichloroethane) in pure inbred Swiss mice.
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Inbred Swiss mice were treated with technical DDT (1) orally with the diet or by intubation; (2) subcutaneously and (3) by skin painting. The total duration of the experiment was 80 weeks. There was no difference in body growth and mortality between the experimental and control groups. Toxic
Mouse models for the Wolf-Hirschhorn deletion syndrome.
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Wolf-Hirschhorn syndrome (WHS) is a deletion syndrome caused by segmental haploidy of chromosome 4p16.3. Its hallmark features include a 'Greek warrior helmet' facial appearance, mental retardation, various midline defects and seizures. The WHS critical region (WHSCR) lies between the Huntington's
Spontaneous hypoparathyroidism: clinical, biochemical and radiological features.
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The clinical, biochemical and radiological features of spontaneously occurring hypoparathyroidism in 13 patients (mean age 9 years, range 4 months to 20 years) are highlighted. Nine patients presented with a history of generalised seizures and 2 were in acute hypocalcemic crisis at the time of
Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings.
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Fifteen premature infants with lethal congenital cytomegalovirus infection were studied to determine the clinical, neuroradiological, and neuropathological characteristics of the disease in this population. Nine infants were liveborn but died at a postnatal age of 18 +/- 21 days; 6 infants were
Peter Plus Syndrome: A Neurosurgeon's Perspective.
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Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and
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