35 research outputs found
Hans Hermann Behr (1818–1904): botanist, entomologist, anthropologist, humorist and dangerous?
Hans Hermann Behr arrived in Adelaide in late 1844 as a newly-graduated doctor interested more in botany, entomology and anthropology. After just one year, he returned to Germany with prolific samples and notes. He returned to Adelaide towards the end of 1848, again exploring and collecting extensively. Within a year he left for the Philippines and after another year had arrived in San Francisco where he firmly established his international reputation
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
BACKGROUND:
Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia. Some additional symptoms are observed in different percentage of the patients. Epilepsy is common symptom as well. The underlying cause of the syndrome is a submicroscopic deletion in the chromosomal region 9q34.3 or disruption of the euchromatin histone methyl transferase 1.
CASE PRESENTATION:
We describe two Hungarian Kleefstra syndrome patients, one with the classic phenotype of the syndrome, the diagnosis was confirmed by subtelomeric FISH. Meanwhile in our second patient beside the classic phenotype a new symptom - abnormal antiepileptic drug metabolic response - could be observed. Subtelomere FISH confirmed the 9q34.3 terminal deletion. Because of the abnormal drug metabolism in our second patient, we performed array CGH analysis as well searching for other rearrangements. Array CGH analysis indicated a large - 1.211 Mb -, deletion only in the 9q subtelomeric region with breakpoints ch9:139,641,471-140,852,911.
CONCLUSIONS:
This is the first report on Kleefstra syndrome in patients describing a classical and a complex phenotype involving altered drug metabolism.
KEYWORDS: 9q subtelomeric deletion syndrome; Drug metabolism; Epilepsy; Kleefstra syndrom
Enantiomers of clofibric acid analogs have opposite actions on rat skeletal muscle chloride channels
Pharmacological block of Ca2+-activated Cl? current in rat vascular smooth muscle cells in short-term primary culture
Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
BACKGROUND: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related clinical practice for DMD among the local experts. In 2015, we conducted a DMD expert survey in Asia and Oceania to acquire information regarding patients with DMD and to assess current clinical practice with the cooperation of Asian and Oceanian Myology Centre, a neuromuscular disease research network. RESULTS: We obtained survey responses from 87 out of 148 clinicians (62%) from 13 countries and regions. In China, 1385 DMD patients were followed-up by 5 respondent neurologists, and 84% were between 0 and 9 years of age (15% were 10-19 years, 1% > 19 years). While in Japan, 1032 patients were followed-up by 20 clinicians, and the age distribution was similar between the 3 groups (27% were 0-9 years, 35% were 10-19 years, 38% were >19 years). Most respondent clinicians (91%) were aware of DMD standard of care recommendations. Daily prednisolone/prednisone administration was used most frequently at initiation (N = 45, 64%). Inconsistent opinion on steroid therapy after loss of ambulation and medication for bone protection was observed. CONCLUSIONS: Rare disease research infrastructures have been underdeveloped in many of Asian and Oceanian countries. In this situation, our results show the snapshots of current medical situation and clinical practice in DMD. For further epidemiological studies, expansion of DMD registries is necessary
Effects of ischaemia and post-ischaemic reperfusion on the passive and active electrical parameters of rat skeletal muscle fibres
Inactivation of muscle chloride channel by transposon insertion in myotonic mice
Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. NATURE. 1991;354(6351):304-308.MYOTONIA (stiffness and impaired relaxation of skeletal muscle) is a symptom of several diseases caused by repetitive firing of action potentials in muscle membranes 1. Purely myotonic human diseases are dominant myotonia congenita (Thomsen) and recessive generalized myotonia (Becker), whereas myotonic dystrophy is a systemic disease. Muscle hyperexcitability was attributed to defects in sodium channels 2,3 and/or to a decrease in chloride conductance (in Becker's myotonia 4 and in genetic animal models 5-10). Experimental blockage of Cl- conductance (normally 70-85% of resting conductance in muscle") in fact elicits myotonia 1,9. ADR (ref. 12) mice are a realistic animal model 5-7,12-18 for recessive autosomal myotonia. In addition to Cl- conductance 5, many other parameters 6,12,16 are changed in muscles of homozygous animals. We have now cloned the major mammalian skeletal muscle chloride channel (ClC-1) 19. Here we report that in ADR mice a transposon of the ETn family 20-23 has inserted into the corresponding gene, destroying its coding potential for several membrane-spanning domains. Together with the lack of recombination between the Clc-1 gene and the adr locus, this strongly suggests a lack of functional chloride channels as the primary cause of mouse myotonia