Carlo Cianchetti - Academia.edu (original) (raw)
Papers by Carlo Cianchetti
American Journal of Physiology-Renal Physiology, 2007
Stimulation of capsaicin receptors results in an increase in afferent renal nerve activity (ARNA)... more Stimulation of capsaicin receptors results in an increase in afferent renal nerve activity (ARNA), but it is unclear how capsaicin contributes to sensory activation intrarenally. Here, we studied the relationships between capsaicin receptor activation, substance P (SP) release, and the sensory response in the rat renal pelvis. Immunoblots showed that one of the capsaicin receptors, transient receptor potential vanilloid type 1 channel (TRPV1), was found in various renal tissues and was especially abundant in the renal pelvis, where most sensory nerve fibers originate. Interestingly, immunolabeling showed colocalization of TRPV1, SP, and the panneuronal marker PGP9.5 in the renal pelvis. Electrophysiological recordings showed that SP and capsaicin activated the same mechanosensitive ARNA in a single-unit preparation. Intrapelvic administration of capsaicin or a specific TRPV1 agonist, resiniferatoxin, resulted in a dose-dependent increase in multi-unit ARNA and SP release, and these ...
Clinical Practice & Epidemiology in Mental Health, 2020
Introduction: Early detection of behavioral and emotional problems in children and adolescents is... more Introduction: Early detection of behavioral and emotional problems in children and adolescents is relevant. For this purpose, the use of questionnaires completed by parents is applicable. Parent questionnaires are also useful preliminary support to the clinical investigation. Methods: Validated tools for the analysis of behavioral and emotional problems suitable for school-age subjects are analyzed in their characteristics and possibilities of use. Results: The following are the main characteristics of the instruments examined. The Child and Adolescent Symptom Inventory 4&5, Parent Checklist (CASI-4&5) and Behavior Assessment System For Children - Parent Rating Scales 2&3 (BASC-2&3) include a high number of questions, with exploration extended to almost all possible pathologies. The Child Behavior Check-List (CBCL) has less items (113), but only 48 refer to DSM pathologies. The use of CASI, BASC and CBCL carries a cost because they are copyrighted. The Pediatric Symptom Checklist (P...
Clinical Child Psychology and Psychiatry, 2020
Background: The questionnaires completed by the parents give a first general information on the b... more Background: The questionnaires completed by the parents give a first general information on the behavioral problems of the child–adolescent, as a useful orientation to the clinical evaluation. The Child and Adolescent Behavior Inventory (CABI) is a 75-item parent questionnaire, which explores a large number of problem areas. The study of its predictive validity for the clinical diagnosis, in comparison with the Diagnostic and Statistical Manual of Mental Disorders ( DSM)-oriented scales of the Child Behavior Checklist (CBCL), can assess whether its use may be advantageous. Material and Methods: Parents/caregivers of 462 children and adolescents responded to both CABI and CBCL as a preliminary routine investigation. The results were compared with those of diagnoses obtained after the completion of the usual clinical procedure. Results: Accuracy values (probability of correct classification) resulted high for both instruments and significantly better for CABI anxiety and attention-def...
Neurological Sciences, 2017
The interrelations between headache/migraine and epileptic seizures are an interesting topic, sti... more The interrelations between headache/migraine and epileptic seizures are an interesting topic, still lacking a systematization, which is the objective of the present revision. We organize the general setting on: (a) a distinction between pre-ictal, ictal, post-ictal and inter-ictal headaches, assuming ''ictal'' as epileptic seizure, and (b) the kind of headache, if it is of migraine type or not. Concerning pre-ictal migraine/headache, the necessity of its differentiation from an epileptic headache presenting as an aura of a seizure is stressed; this is connected with the indefiniteness of the term ''migralepsy''. The term ''migraine aura-triggered seizure'' should be used only in front of a proven triggering effect of migraine. Epileptic headache (called also ''ictal epileptic headache'') is a well-characterized entity, in which different types of head pain may occur and an ictal EEG is necessary for the diagnosis. It may present as an isolated event (''isolated epileptic headache''), requiring a differential diagnosis from other kinds of headache, or it may be uninterruptedly followed by other epileptic manifestations being in this case easily identifiable as an epileptic aura. Hemicrania epileptica is a very rare variant of epileptic headache, characterized by the ipsilaterality of head pain and EEG paroxysms. Ictal non-epileptic headache needs to be differentiated from epileptic headache. Post-ictal headaches are a frequent association of headache with seizures, particularly in patients suffering also from inter-ictal headache-migraine. The reported systematization of the topic led us to suggest a classification which is shown in Appendix.
Clinical Practice & Epidemiology in Mental Health, 2017
Background:The Child and Adolescent Behavior Inventory (CABI) is a questionnaire designed to coll... more Background:The Child and Adolescent Behavior Inventory (CABI) is a questionnaire designed to collect information from the parents of children and adolescents, both for the preparation of screening and epidemiological studies and for clinical evaluation. It has been published in CPEMH in 2013, with the first data on 8-10 years old school children.Here we report an extended standardization on a school population 6-17 years old and the first results of the application in a clinical sample.Methods:Parents, after giving their informed consent, answered to the questionnaire. Complete and reliable data were obtained from the parents of 659 school children and adolescents 6-17 y.o., with a balanced distribution of gender.Moreover, in a population of 84 patients, the results with the CABI were compared with the clinical evaluation and the CBCL.Results:In the school population, scores were different in relation to gender and age. The values of externalizing disorders were higher in males, wit...
Toxins, 2015
Botulinum neurotoxin A (BoNT/A) is a toxin produced by the naturally-occurring Clostridium botuli... more Botulinum neurotoxin A (BoNT/A) is a toxin produced by the naturally-occurring Clostridium botulinum that causes botulism. The potential of BoNT/A as a useful medical intervention was discovered by scientists developing a vaccine to protect against botulism. They found that, when injected into a muscle, BoNT/A causes a flaccid paralysis. Following this discovery, BoNT/A has been used for many years in the treatment of conditions of pathological muscle hyperactivity, like dystonias and spasticities. In parallel, the toxin has become a "glamour" drug due to its power to ward off facial wrinkles, particularly frontal, due to the activity of the mimic muscles. After the discovery that the drug also appeared to have a preventive effect on headache, scientists spent many efforts to study the potentially-therapeutic action of BoNT/A against pain. BoNT/A is effective at reducing pain in a number of disease states, including cervical dystonia, neuropathic pain, lower back pain, spasticity, myofascial pain and bladder pain. In 2010, regulatory approval for the treatment of chronic migraine with BoNT/A was given, notwithstanding the fact that the mechanism of action is still not completely elucidated. In the present review, we summarize experimental evidence that may help to clarify the mechanisms of action of BoNT/A in relation to the alleviation of headache pain, with particular emphasis on preclinical studies,
Seizure, 2015
The assessment of the quality of life (QoL) is relevant for a comprehensive treatment of patients... more The assessment of the quality of life (QoL) is relevant for a comprehensive treatment of patients with epilepsy. In children and adolescents, an impact of epilepsy on the QoL of the entire family is expected. Methods: We asked 293 parents of children and adolescents with epilepsy, included in an observational study on treatment satisfaction, to evaluate the impact of the disease on several aspects of the QoL of the whole family using a specifically organized questionnaire (IEQoL). Results: The degree of parents' concerns about epilepsy and the severity of the disease correlated with a deterioration of QoL in both the children and the family. This involved all aspects of QoL (conflicts within the family, job, leisure activities, peer relationship, economy) although to a different degree. Parents frequently admitted increased apprehensiveness, even when not justified by the low severity of the disease. There was general agreement between parents and their adolescent children, although in a few cases adolescents overrated their school and daily performance in respect to the parents, suggesting a tendency to overlook their problems. Conclusion: Epilepsy impairs all aspects of QoL, although at different degree, both in children/ adolescents and in their families. Parental apprehensiveness appears to have a role on this, and it may not reflect the severity of the disease.
The Italian Journal of Neurological Sciences, 1994
... Si suggerisce che questo polipeptide possa esercitare un'azione su uno specifico tipo di... more ... Si suggerisce che questo polipeptide possa esercitare un'azione su uno specifico tipo di cellule nervose che selettivamente soffrono insieme in diverse ben note affezioni ... [4] GASCON GG, YAMANI S., CAFEGE A., FLOCK L., AL-SEDAIRY S., PARHAR S., CROWELL J ...
The Italian Journal of Neurological Sciences, 1986
T3+ (all-T) and T8+ (suppressor/cytotoxic) cells were studied in cerebrospinal fluid (CSF) from 2... more T3+ (all-T) and T8+ (suppressor/cytotoxic) cells were studied in cerebrospinal fluid (CSF) from 24 patients with multiple sclerosis (MS) and from 24 subjects with various "non-immunological" disease (NID). MS patients were classed as (a) during the acute phase of the 1st episode of the disease, (b) in acute relapse, (c) with chronic progressive disease, (d) with increased or (e) normal CSF IgG content or (f) with neurological impairment (Kurtzke scale) less than or equal to 3 or (g) greater than 3. In MS cases considered as a whole a significant decrease in CSF T3+ cells was found compared to NID patients. When single groups were considered, T3+ cells decrease was significant in classes (b), (d) and (f). Significantly lower percentages of T8+ cells, compared to NID, were found in MS classes (a), (d) and (f).
Neurological Sciences, 2005
The objective was to report the possibility that in Tourette's disorder (TD) the same pathways ma... more The objective was to report the possibility that in Tourette's disorder (TD) the same pathways may not be involved in all patients. Tics in three children affected with TD showed no improvement after treatment with several neuroleptic drugs (D2 blockers) at appropriate doses. However, they did improve greatly and persistently with pergolide treatment. One of the 3 patients showed a less usual tic feature, the most relevant of which resembled violent myoclonias of both upper limbs. This suggests that in these patients the improvement due to pergolide is not linked to an effect on D2-receptors-carrying GABAergic neurons, as usually assumed, because the patients did not respond to neuroleptics acting in this way. In these 3 cases, unlike in other TD patents, a prevalent action of pergolide by pre-synaptic inhibition of dopamine release on D1receptors-carrying GABAergic neurons is suggested. Therefore, direct and indirect pathways could be differentially involved in different cases of TD.
Movement Disorders, 2006
We performed a service-based epidemiological study of primary blepharospasm in the island of Sard... more We performed a service-based epidemiological study of primary blepharospasm in the island of Sardinia (Italy). Due to its favorable geographical location, we are confident we will provide reliable data from patients seeking botulinum toxin treatment. A total of 53 patients were assessed. Prevalence was estimated to be 32.2 per 1 million (95% confidence interval, 23.0-40.8). These results are in line with those obtained in other similar surveys, that is, record-based, and performed in various European regions such as Northern England, the Munich area, as well as the Epidemiologic Study of Dystonia in Europe.
Journal of Neurology, Neurosurgery & Psychiatry, 1986
Neuronal subtype specification is regulated by the coordinated action of transcription factors. A... more Neuronal subtype specification is regulated by the coordinated action of transcription factors. Any one factor may be expressed in multiple subtypes, but specification is achieved based on the precise combination of factors and is therefore context dependent. In this issue (p. 422), Oliver Hobert and colleagues explore neuronal differentiation in C. elegans and focus on the role of the TTX-3 LIM homeodomain transcription factor in regulating neural subtype specification. The authors find that TTX-3 is broadly required in multiple neuron classes of relatively unrelated identity, but that the interacting partners and downstream targets of TTX-3 are subtype specific. TTX-3 is required for cholinergic AIY interneuron specification, while an interaction with the POU domain protein UNC-86 leads to the specification of serotinergic NSM neurons. Furthermore, UNC-86 itself can specify cholinergic IL2 sensory and URA motoneurons via cooperation with the ARID-type transcription factor CFI-1. This detailed analysis of transcriptional cascades reveals a programming roadmap for neuronal subtype specification.
Journal of Neurology, 2010
Previous studies suggest a role of scalp perivascular structures in at least a substantial number... more Previous studies suggest a role of scalp perivascular structures in at least a substantial number of migraineurs. This study aimed to evaluate the presence of pressure-painful scalp arteries in patients with migraine. Pressure-painful points on scalp arteries were searched for in 100 consecutive patients affected with migraine, 84 females (F) and 16 males (M), 83 without aura (70 F) and 17 with aura (14 F), and in 30 healthy matched subjects. The examined arteries were, bilaterally, the superficial temporal and its frontal branch, the zygomatico-orbital, the occipital and the posterior auricular. We examined 75 patients interictally: 60 (80.0%) reported one or more (mean per subject 3.7 ± 1.9) pressure-painful arteries and 15 (20.0%) reported none. In the 30 controls, pressure-painful arteries were present in only nine (30.0%, mean per subject 1.3 ± 0.7), with highly significant differences (p < 0.001). During a migraine attack, of the 51 patients examined, 45 (88.2%, 38F) reported one or more (mean 3.8 ± 2.1) pressure-painful arteries and six (11.8%) reported none. Both when during an attack and interictally, the arteries most frequently involved were the occipital, the frontal branch, and the temporal. Scalp arteries are frequently painful to pressure in migraineurs, especially in females, both during headache and interictally. Painful arteries suggest hypersensitivity of periarterial nociceptive afferents, which is perhaps due to the local presence of endogenous algogenic products, as suggested by our previous studies.
Journal of Clinical Investigation, 1995
European Journal of Human Genetics, 2012
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutatio... more Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in 430 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysiological and pathological findings. Our study focused on the identification of a novel disease mutation in a large Sardinian family with CMT2 of autosomal dominant (AD) inheritance. All available family members were clinically evaluated and samples were collected from consenting individuals. Initially, we excluded known CMT2 genes/loci in this family. We then conducted a genome-wide linkage analysis and mapped the gene to chromosome 9q33-q34. Refined linkage and haplotype analyses defined an 11.6-Mb candidate region with a maximum LOD score of 8.06. Following exclusion of several candidate genes from the region, we targeted the LRSAM1 (leucine-rich repeat and sterile alpha motif-containing 1) gene, very recently found to be associated with autosomal recessive CMT2 in one family. For a more efficient investigation of this large gene, already available proband RNA (cDNA) was initially analyzed. Targeted DNA analysis then confirmed a novel LRSAM1 splice-site (c.2047-1G4A) mutation, causing a frameshift that introduces a stop codon three amino acids further down the new reading frame (p.Ala683ProfsX3). This mutation is located in the C-terminal RING finger motif of the encoded protein and leads to premature truncation of the protein. In the course of our work, a second LRSAM1 mutation dominantly transmitted was identified by another group. Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance.
Clinical Practice & Epidemiology in Mental Health, 2013
Background: Some questionnaires have already been elaborated to collect information from parents ... more Background: Some questionnaires have already been elaborated to collect information from parents of children and adolescents, both as preparation for clinical evaluation and for screening and epidemiological studies. Here a new questionnaire, the CABI, is proposed, and it is validated in a population of 8-10 year-old children. Compared to existing questionnaires, the CABI has been organized so as to be of medium length, with items concerning the most significant symptoms indicated by the DSM-IV-TR for the pertinent disorders, and covering a wider range than existing instruments. There is no charge for its use. Methods: The answers of the parents of 302 children in the last 3 years of primary school provided the normative data. A discriminant validation was done for internalizing and externalizing disorders and as a comparison with self-administered anxiety and depression scales. Exploratory factor analysis and internal consistency were also performed. Results: Distribution of scores...
Cephalalgia, 2012
Aim To review reports suggesting a role for neurovascular scalp structures in migraine. Main data... more Aim To review reports suggesting a role for neurovascular scalp structures in migraine. Main data reported (A) Scalp periarterial nervous fibres contain all the main peptides and receptors involved in pain. (B) It is possible to interrupt or alleviate migraine pain with a prolonged compression of the main scalp arteries, which decreases blood flow through the pain-sensitized vessels and probably induces a temporary conduction block of periarterial nociceptive fibres. (C) Painful points are present on the scalp arteries of a considerable percentage of migraine sufferers. (D) It is possible to stop or alleviate pain by intervening on nociceptive periarterial fibres, as for example with the injection of lidocaine or 3–5 ml saline, and with percutaneous application of a capsaicin cream. Conclusion The data reported suggest a role for neurovascular scalp structures in at least some patients with migraine. It would be of interest to find a clinical distinction between patients according t...
American Journal of Physiology-Renal Physiology, 2007
Stimulation of capsaicin receptors results in an increase in afferent renal nerve activity (ARNA)... more Stimulation of capsaicin receptors results in an increase in afferent renal nerve activity (ARNA), but it is unclear how capsaicin contributes to sensory activation intrarenally. Here, we studied the relationships between capsaicin receptor activation, substance P (SP) release, and the sensory response in the rat renal pelvis. Immunoblots showed that one of the capsaicin receptors, transient receptor potential vanilloid type 1 channel (TRPV1), was found in various renal tissues and was especially abundant in the renal pelvis, where most sensory nerve fibers originate. Interestingly, immunolabeling showed colocalization of TRPV1, SP, and the panneuronal marker PGP9.5 in the renal pelvis. Electrophysiological recordings showed that SP and capsaicin activated the same mechanosensitive ARNA in a single-unit preparation. Intrapelvic administration of capsaicin or a specific TRPV1 agonist, resiniferatoxin, resulted in a dose-dependent increase in multi-unit ARNA and SP release, and these ...
Clinical Practice & Epidemiology in Mental Health, 2020
Introduction: Early detection of behavioral and emotional problems in children and adolescents is... more Introduction: Early detection of behavioral and emotional problems in children and adolescents is relevant. For this purpose, the use of questionnaires completed by parents is applicable. Parent questionnaires are also useful preliminary support to the clinical investigation. Methods: Validated tools for the analysis of behavioral and emotional problems suitable for school-age subjects are analyzed in their characteristics and possibilities of use. Results: The following are the main characteristics of the instruments examined. The Child and Adolescent Symptom Inventory 4&5, Parent Checklist (CASI-4&5) and Behavior Assessment System For Children - Parent Rating Scales 2&3 (BASC-2&3) include a high number of questions, with exploration extended to almost all possible pathologies. The Child Behavior Check-List (CBCL) has less items (113), but only 48 refer to DSM pathologies. The use of CASI, BASC and CBCL carries a cost because they are copyrighted. The Pediatric Symptom Checklist (P...
Clinical Child Psychology and Psychiatry, 2020
Background: The questionnaires completed by the parents give a first general information on the b... more Background: The questionnaires completed by the parents give a first general information on the behavioral problems of the child–adolescent, as a useful orientation to the clinical evaluation. The Child and Adolescent Behavior Inventory (CABI) is a 75-item parent questionnaire, which explores a large number of problem areas. The study of its predictive validity for the clinical diagnosis, in comparison with the Diagnostic and Statistical Manual of Mental Disorders ( DSM)-oriented scales of the Child Behavior Checklist (CBCL), can assess whether its use may be advantageous. Material and Methods: Parents/caregivers of 462 children and adolescents responded to both CABI and CBCL as a preliminary routine investigation. The results were compared with those of diagnoses obtained after the completion of the usual clinical procedure. Results: Accuracy values (probability of correct classification) resulted high for both instruments and significantly better for CABI anxiety and attention-def...
Neurological Sciences, 2017
The interrelations between headache/migraine and epileptic seizures are an interesting topic, sti... more The interrelations between headache/migraine and epileptic seizures are an interesting topic, still lacking a systematization, which is the objective of the present revision. We organize the general setting on: (a) a distinction between pre-ictal, ictal, post-ictal and inter-ictal headaches, assuming ''ictal'' as epileptic seizure, and (b) the kind of headache, if it is of migraine type or not. Concerning pre-ictal migraine/headache, the necessity of its differentiation from an epileptic headache presenting as an aura of a seizure is stressed; this is connected with the indefiniteness of the term ''migralepsy''. The term ''migraine aura-triggered seizure'' should be used only in front of a proven triggering effect of migraine. Epileptic headache (called also ''ictal epileptic headache'') is a well-characterized entity, in which different types of head pain may occur and an ictal EEG is necessary for the diagnosis. It may present as an isolated event (''isolated epileptic headache''), requiring a differential diagnosis from other kinds of headache, or it may be uninterruptedly followed by other epileptic manifestations being in this case easily identifiable as an epileptic aura. Hemicrania epileptica is a very rare variant of epileptic headache, characterized by the ipsilaterality of head pain and EEG paroxysms. Ictal non-epileptic headache needs to be differentiated from epileptic headache. Post-ictal headaches are a frequent association of headache with seizures, particularly in patients suffering also from inter-ictal headache-migraine. The reported systematization of the topic led us to suggest a classification which is shown in Appendix.
Clinical Practice & Epidemiology in Mental Health, 2017
Background:The Child and Adolescent Behavior Inventory (CABI) is a questionnaire designed to coll... more Background:The Child and Adolescent Behavior Inventory (CABI) is a questionnaire designed to collect information from the parents of children and adolescents, both for the preparation of screening and epidemiological studies and for clinical evaluation. It has been published in CPEMH in 2013, with the first data on 8-10 years old school children.Here we report an extended standardization on a school population 6-17 years old and the first results of the application in a clinical sample.Methods:Parents, after giving their informed consent, answered to the questionnaire. Complete and reliable data were obtained from the parents of 659 school children and adolescents 6-17 y.o., with a balanced distribution of gender.Moreover, in a population of 84 patients, the results with the CABI were compared with the clinical evaluation and the CBCL.Results:In the school population, scores were different in relation to gender and age. The values of externalizing disorders were higher in males, wit...
Toxins, 2015
Botulinum neurotoxin A (BoNT/A) is a toxin produced by the naturally-occurring Clostridium botuli... more Botulinum neurotoxin A (BoNT/A) is a toxin produced by the naturally-occurring Clostridium botulinum that causes botulism. The potential of BoNT/A as a useful medical intervention was discovered by scientists developing a vaccine to protect against botulism. They found that, when injected into a muscle, BoNT/A causes a flaccid paralysis. Following this discovery, BoNT/A has been used for many years in the treatment of conditions of pathological muscle hyperactivity, like dystonias and spasticities. In parallel, the toxin has become a "glamour" drug due to its power to ward off facial wrinkles, particularly frontal, due to the activity of the mimic muscles. After the discovery that the drug also appeared to have a preventive effect on headache, scientists spent many efforts to study the potentially-therapeutic action of BoNT/A against pain. BoNT/A is effective at reducing pain in a number of disease states, including cervical dystonia, neuropathic pain, lower back pain, spasticity, myofascial pain and bladder pain. In 2010, regulatory approval for the treatment of chronic migraine with BoNT/A was given, notwithstanding the fact that the mechanism of action is still not completely elucidated. In the present review, we summarize experimental evidence that may help to clarify the mechanisms of action of BoNT/A in relation to the alleviation of headache pain, with particular emphasis on preclinical studies,
Seizure, 2015
The assessment of the quality of life (QoL) is relevant for a comprehensive treatment of patients... more The assessment of the quality of life (QoL) is relevant for a comprehensive treatment of patients with epilepsy. In children and adolescents, an impact of epilepsy on the QoL of the entire family is expected. Methods: We asked 293 parents of children and adolescents with epilepsy, included in an observational study on treatment satisfaction, to evaluate the impact of the disease on several aspects of the QoL of the whole family using a specifically organized questionnaire (IEQoL). Results: The degree of parents' concerns about epilepsy and the severity of the disease correlated with a deterioration of QoL in both the children and the family. This involved all aspects of QoL (conflicts within the family, job, leisure activities, peer relationship, economy) although to a different degree. Parents frequently admitted increased apprehensiveness, even when not justified by the low severity of the disease. There was general agreement between parents and their adolescent children, although in a few cases adolescents overrated their school and daily performance in respect to the parents, suggesting a tendency to overlook their problems. Conclusion: Epilepsy impairs all aspects of QoL, although at different degree, both in children/ adolescents and in their families. Parental apprehensiveness appears to have a role on this, and it may not reflect the severity of the disease.
The Italian Journal of Neurological Sciences, 1994
... Si suggerisce che questo polipeptide possa esercitare un'azione su uno specifico tipo di... more ... Si suggerisce che questo polipeptide possa esercitare un'azione su uno specifico tipo di cellule nervose che selettivamente soffrono insieme in diverse ben note affezioni ... [4] GASCON GG, YAMANI S., CAFEGE A., FLOCK L., AL-SEDAIRY S., PARHAR S., CROWELL J ...
The Italian Journal of Neurological Sciences, 1986
T3+ (all-T) and T8+ (suppressor/cytotoxic) cells were studied in cerebrospinal fluid (CSF) from 2... more T3+ (all-T) and T8+ (suppressor/cytotoxic) cells were studied in cerebrospinal fluid (CSF) from 24 patients with multiple sclerosis (MS) and from 24 subjects with various "non-immunological" disease (NID). MS patients were classed as (a) during the acute phase of the 1st episode of the disease, (b) in acute relapse, (c) with chronic progressive disease, (d) with increased or (e) normal CSF IgG content or (f) with neurological impairment (Kurtzke scale) less than or equal to 3 or (g) greater than 3. In MS cases considered as a whole a significant decrease in CSF T3+ cells was found compared to NID patients. When single groups were considered, T3+ cells decrease was significant in classes (b), (d) and (f). Significantly lower percentages of T8+ cells, compared to NID, were found in MS classes (a), (d) and (f).
Neurological Sciences, 2005
The objective was to report the possibility that in Tourette's disorder (TD) the same pathways ma... more The objective was to report the possibility that in Tourette's disorder (TD) the same pathways may not be involved in all patients. Tics in three children affected with TD showed no improvement after treatment with several neuroleptic drugs (D2 blockers) at appropriate doses. However, they did improve greatly and persistently with pergolide treatment. One of the 3 patients showed a less usual tic feature, the most relevant of which resembled violent myoclonias of both upper limbs. This suggests that in these patients the improvement due to pergolide is not linked to an effect on D2-receptors-carrying GABAergic neurons, as usually assumed, because the patients did not respond to neuroleptics acting in this way. In these 3 cases, unlike in other TD patents, a prevalent action of pergolide by pre-synaptic inhibition of dopamine release on D1receptors-carrying GABAergic neurons is suggested. Therefore, direct and indirect pathways could be differentially involved in different cases of TD.
Movement Disorders, 2006
We performed a service-based epidemiological study of primary blepharospasm in the island of Sard... more We performed a service-based epidemiological study of primary blepharospasm in the island of Sardinia (Italy). Due to its favorable geographical location, we are confident we will provide reliable data from patients seeking botulinum toxin treatment. A total of 53 patients were assessed. Prevalence was estimated to be 32.2 per 1 million (95% confidence interval, 23.0-40.8). These results are in line with those obtained in other similar surveys, that is, record-based, and performed in various European regions such as Northern England, the Munich area, as well as the Epidemiologic Study of Dystonia in Europe.
Journal of Neurology, Neurosurgery & Psychiatry, 1986
Neuronal subtype specification is regulated by the coordinated action of transcription factors. A... more Neuronal subtype specification is regulated by the coordinated action of transcription factors. Any one factor may be expressed in multiple subtypes, but specification is achieved based on the precise combination of factors and is therefore context dependent. In this issue (p. 422), Oliver Hobert and colleagues explore neuronal differentiation in C. elegans and focus on the role of the TTX-3 LIM homeodomain transcription factor in regulating neural subtype specification. The authors find that TTX-3 is broadly required in multiple neuron classes of relatively unrelated identity, but that the interacting partners and downstream targets of TTX-3 are subtype specific. TTX-3 is required for cholinergic AIY interneuron specification, while an interaction with the POU domain protein UNC-86 leads to the specification of serotinergic NSM neurons. Furthermore, UNC-86 itself can specify cholinergic IL2 sensory and URA motoneurons via cooperation with the ARID-type transcription factor CFI-1. This detailed analysis of transcriptional cascades reveals a programming roadmap for neuronal subtype specification.
Journal of Neurology, 2010
Previous studies suggest a role of scalp perivascular structures in at least a substantial number... more Previous studies suggest a role of scalp perivascular structures in at least a substantial number of migraineurs. This study aimed to evaluate the presence of pressure-painful scalp arteries in patients with migraine. Pressure-painful points on scalp arteries were searched for in 100 consecutive patients affected with migraine, 84 females (F) and 16 males (M), 83 without aura (70 F) and 17 with aura (14 F), and in 30 healthy matched subjects. The examined arteries were, bilaterally, the superficial temporal and its frontal branch, the zygomatico-orbital, the occipital and the posterior auricular. We examined 75 patients interictally: 60 (80.0%) reported one or more (mean per subject 3.7 ± 1.9) pressure-painful arteries and 15 (20.0%) reported none. In the 30 controls, pressure-painful arteries were present in only nine (30.0%, mean per subject 1.3 ± 0.7), with highly significant differences (p < 0.001). During a migraine attack, of the 51 patients examined, 45 (88.2%, 38F) reported one or more (mean 3.8 ± 2.1) pressure-painful arteries and six (11.8%) reported none. Both when during an attack and interictally, the arteries most frequently involved were the occipital, the frontal branch, and the temporal. Scalp arteries are frequently painful to pressure in migraineurs, especially in females, both during headache and interictally. Painful arteries suggest hypersensitivity of periarterial nociceptive afferents, which is perhaps due to the local presence of endogenous algogenic products, as suggested by our previous studies.
Journal of Clinical Investigation, 1995
European Journal of Human Genetics, 2012
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutatio... more Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in 430 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysiological and pathological findings. Our study focused on the identification of a novel disease mutation in a large Sardinian family with CMT2 of autosomal dominant (AD) inheritance. All available family members were clinically evaluated and samples were collected from consenting individuals. Initially, we excluded known CMT2 genes/loci in this family. We then conducted a genome-wide linkage analysis and mapped the gene to chromosome 9q33-q34. Refined linkage and haplotype analyses defined an 11.6-Mb candidate region with a maximum LOD score of 8.06. Following exclusion of several candidate genes from the region, we targeted the LRSAM1 (leucine-rich repeat and sterile alpha motif-containing 1) gene, very recently found to be associated with autosomal recessive CMT2 in one family. For a more efficient investigation of this large gene, already available proband RNA (cDNA) was initially analyzed. Targeted DNA analysis then confirmed a novel LRSAM1 splice-site (c.2047-1G4A) mutation, causing a frameshift that introduces a stop codon three amino acids further down the new reading frame (p.Ala683ProfsX3). This mutation is located in the C-terminal RING finger motif of the encoded protein and leads to premature truncation of the protein. In the course of our work, a second LRSAM1 mutation dominantly transmitted was identified by another group. Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance.
Clinical Practice & Epidemiology in Mental Health, 2013
Background: Some questionnaires have already been elaborated to collect information from parents ... more Background: Some questionnaires have already been elaborated to collect information from parents of children and adolescents, both as preparation for clinical evaluation and for screening and epidemiological studies. Here a new questionnaire, the CABI, is proposed, and it is validated in a population of 8-10 year-old children. Compared to existing questionnaires, the CABI has been organized so as to be of medium length, with items concerning the most significant symptoms indicated by the DSM-IV-TR for the pertinent disorders, and covering a wider range than existing instruments. There is no charge for its use. Methods: The answers of the parents of 302 children in the last 3 years of primary school provided the normative data. A discriminant validation was done for internalizing and externalizing disorders and as a comparison with self-administered anxiety and depression scales. Exploratory factor analysis and internal consistency were also performed. Results: Distribution of scores...
Cephalalgia, 2012
Aim To review reports suggesting a role for neurovascular scalp structures in migraine. Main data... more Aim To review reports suggesting a role for neurovascular scalp structures in migraine. Main data reported (A) Scalp periarterial nervous fibres contain all the main peptides and receptors involved in pain. (B) It is possible to interrupt or alleviate migraine pain with a prolonged compression of the main scalp arteries, which decreases blood flow through the pain-sensitized vessels and probably induces a temporary conduction block of periarterial nociceptive fibres. (C) Painful points are present on the scalp arteries of a considerable percentage of migraine sufferers. (D) It is possible to stop or alleviate pain by intervening on nociceptive periarterial fibres, as for example with the injection of lidocaine or 3–5 ml saline, and with percutaneous application of a capsaicin cream. Conclusion The data reported suggest a role for neurovascular scalp structures in at least some patients with migraine. It would be of interest to find a clinical distinction between patients according t...