hypertrichosis/phosphatase

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Hair growth-stimulating effects of cyclosporin A and FK506, potent immunosuppressants.

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Cyclosporin A (CsA), a cyclic endecapeptide, is a T cell-specific immunosuppressant and is successfully used in the field of organ transplantation. Another T cell-specific immunosuppressant, FK506, a more recently discovered macrolide antibiotic, is effective against graft rejection at much lower

[Immunosuppression with cyclosporin after orthoptic liver transplant in pigs].

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The immunosuppressive effect of cyclosporine A (CsA) was studied in six pigs that underwent orthotopic liver transplant (OLT). The drug was administered i.v. in low doses (1.5-4 mg/Kg-1/12 h-1) and associated with wide spectrum antibiotics. The mean survival of the animals was 23.4 +/- 11.2 days.

Congenital erythropoietic porphyria: a case report.

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Congenital erythropoietic porphyria is a rare autosomal recessive disorder of heme synthesis resulting from deficiency of uroporphyrinogen III synthase (UROIIIS). It is the most severe porphyria. The clinical manifestations are markedly variable due to the different mutation in the UROIIIS gene. We

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

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Cantú syndrome consists of hypertrichosis, osteochondrodysplasia, and cardiomegaly, and has been reported in 18 patients to date. We report an infant with Cantú syndrome. In addition to typical findings, he had relatively mild radiological and cardiological manifestations. Previously undescribed

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death.

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We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum,

Familial benign chronic intrahepatic cholestasis.

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Three of four adult siblings in a family which was studied for three generations had clinical and/or laboratory signs of slowly progressive intrahepatic cholestasis. Slight hyperpigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase

Congenital erythropoietic porphyria: skeletal manifestations and effect of pamidronate treatment.

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Congenital erythropoietic porphyria (CEP) is a rare disorder of heme biosynthesis. Skeletal abnormalities have been described in patients with this disease. We report a 25-year-old woman with osteodystrophy from CEP. On examination, mild hepatosplenomegaly, multiple hyperpigmented scars,

Prostaglandin induced cortical hyperostosis in neonates with cyanotic heart disease.

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OBJECTIVE To study the side effects of prolonged prostaglandin therapy especially hyperostosis and other musculoskeletal changes. METHODS Case files of the neonates, with cyanotic heart disease, who had received prostaglandin infusion from early days of life, were reviewed. Patients with periosteal

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

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Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K⁺ channels, have been

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