ABSTRACT
A new genus and species of nematode, Tziminema unachi n. gen., n. sp. is described from the caecum and colon of Baird's tapir Tapirus bairdii (Gill, 1865), found dead in the Reserva de la Biósfera El Triunfo, Chiapas State, in the Neotropical realm of Mexico. Tziminema n. gen. differs from the other nine genera included in the Strongylinae by two main characteristics: having 7-9 posteriorly directed tooth-like structures at the anterior end of the buccal capsule, and the external surface of the buccal capsule being heavily striated. Phylogenetic analyses of the DNA sequences of the mitochondrial cytochrome c oxidase and nuclear DNA, including a partial sequence of the internal transcribed spacer 1, 5.8S and a partial sequence of the internal transcribed spacer 2 of the new taxon, confirmed its inclusion in Strongylinae and its rank as a new genus.
Subject(s)
Perissodactyla/parasitology , Strongyloidea/classification , Strongyloidea/isolation & purification , Animals , Cecum/parasitology , Cluster Analysis , Colon/parasitology , DNA, Helminth/chemistry , DNA, Helminth/genetics , DNA, Ribosomal/chemistry , DNA, Ribosomal/genetics , DNA, Ribosomal Spacer/chemistry , DNA, Ribosomal Spacer/genetics , Electron Transport Complex IV/genetics , Mexico , Microscopy , Microscopy, Electron, Scanning , Phylogeny , RNA, Ribosomal, 5.8S/genetics , Sequence Analysis, DNA , Strongyloidea/anatomy & histology , Strongyloidea/geneticsABSTRACT
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns.
Subject(s)
Congresses as Topic , Epilepsy/diagnosis , Epilepsy/therapy , Transition to Adult Care/trends , Adolescent , Adult , Child , Child, Preschool , Encephalitis/diagnosis , Encephalitis/therapy , Epilepsy, Absence/diagnosis , Epilepsy, Absence/therapy , Hashimoto Disease/diagnosis , Hashimoto Disease/therapy , Humans , Infant , Myoclonic Epilepsy, Juvenile/diagnosis , Myoclonic Epilepsy, Juvenile/therapy , Rett Syndrome/diagnosis , Rett Syndrome/therapy , Spasms, Infantile/diagnosis , Spasms, Infantile/therapy , Treatment Outcome , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/therapy , Young AdultABSTRACT
The first morphological description of the male of Trypanoxyuris pigrae Solórzano-García, Nadler, and Pérez-Ponce de León, 2016 , is presented in this study. Morphological data are supported by molecular data. Specimens of T. pigrae were recovered after the necropsy of a roadkill black howler monkey (Alouatta pigra) in southeastern Mexico. Males of T. pigrae are characterized by having 3 notched lips and a long esophagus with a posterior bulb; they also show a single crested lateral alae, a single spicule, and 4 caudal papillae. Morphological features coincide with those of the previously described T. pigrae females, and molecular profiles confirmed species identification. Males of T. pigrae are very similar to those of Trypanoxyuris minutus, another species of pinworm that also parasitizes the black howler monkey, A. pigra; however, the shape of the lips represents a very reliable diagnostic feature. Because of this, detailed en face observations are recommended to discriminate between these pinworm species.
Subject(s)
Alouatta/parasitology , Monkey Diseases/parasitology , Oxyuriasis/veterinary , Oxyuroidea/classification , Animals , Cyclooxygenase 1/chemistry , Cyclooxygenase 1/genetics , Female , Male , Mexico , Oxyuriasis/parasitology , Oxyuroidea/genetics , Oxyuroidea/ultrastructureABSTRACT
Lafora disease (LD) is the most severe form of Progressive Myoclonus Epilepsy with teenage onset. It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure. In the last decade, with the identification of the genes responsible for this disease, much knowledge has been gained with the potential for the future development of effective treatment. This review will briefly address clinical issues and will focus on the molecular aspects of the disease.
Subject(s)
Lafora Disease/physiopathology , Adolescent , Age of Onset , Child , Genotype , Humans , Lafora Disease/genetics , Lafora Disease/metabolism , Lafora Disease/pathology , Membrane Glycoproteins/genetics , PhenotypeABSTRACT
The authors describe long-term follow-up (mean, 5 years) in patients with anterior (AN) (n = 6) or centromedian (n = 2) thalamic deep brain stimulation (DBS) for epilepsy. Five patients (all AN) had > or = 50% seizure reduction, although benefit was delayed in two until years 5 to 6, after changes in antiepileptic drugs. DBS electrode implantation in AN patients was followed by seizure reduction 1 to 3 months before active stimulation, raising the possibility of a beneficial microthalamotomy effect.
Subject(s)
Deep Brain Stimulation , Epilepsy/therapy , Thalamus , Adolescent , Adult , Anticonvulsants/therapeutic use , Combined Modality Therapy , Deep Brain Stimulation/adverse effects , Epilepsies, Partial/drug therapy , Epilepsies, Partial/therapy , Epilepsy/drug therapy , Epilepsy, Generalized/drug therapy , Epilepsy, Generalized/therapy , Female , Follow-Up Studies , Hallucinations/etiology , Humans , Male , Middle Aged , Nystagmus, Pathologic/etiology , Single-Blind Method , Sleep Stages , Treatment FailureSubject(s)
Genetic Predisposition to Disease/genetics , Hallucinations/drug therapy , Hallucinations/etiology , Lafora Disease/complications , Lafora Disease/drug therapy , Adult , Anticonvulsants/therapeutic use , Antipsychotic Agents/therapeutic use , Brain/drug effects , Brain/physiopathology , Carrier Proteins/genetics , Dibenzothiazepines/therapeutic use , Disease Progression , Electroencephalography , Female , Hallucinations/physiopathology , Humans , Lafora Disease/physiopathology , Mutation/genetics , Quetiapine Fumarate , Seizures/complications , Seizures/drug therapy , Seizures/etiology , Treatment Outcome , Ubiquitin-Protein LigasesABSTRACT
Lafora disease is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. In skin, LB have been reported in either eccrine sweat glands or in apocrine sweat glands. The disease is caused by mutations in either the EPM2A gene or in a second yet-unknown gene. Here the authors determine whether a genotype-phenotype correlation exists between the genetic form of the disease and the skin cell type affected by LB formation. Also is described an important source of false positivity in the use of axillary biopsies for disease diagnosis.
Subject(s)
Lafora Disease/diagnosis , Skin/pathology , Adolescent , Child , False Positive Reactions , Female , Genotype , Humans , Lafora Disease/genetics , Lafora Disease/pathology , Pedigree , Phenotype , Protein Tyrosine Phosphatases/genetics , Protein Tyrosine Phosphatases, Non-Receptor , Skin/cytologyABSTRACT
Lafora disease (LD) is the only progressive myoclonus epilepsy with polyglucosan bodies. Among conditions with polyglucosan bodies, LD is unique for the subcellular location of its polyglucosans in neuronal perikarya and dendrites and not in axons. Here we report that the protein encoded by the EPM2A gene, which is mutated in LD, localizes at the plasma membrane and the endoplasmic reticulum and that it is a functional protein tyrosine phosphatase. The significance of these findings in the epilepsy of LD and in the origin and characteristic subcellular location of Lafora bodies is discussed.