Valutazione dell'attività muscolare faringea attraverso elettromiografia di superficie nasofaringea in pazienti disfagici affetti da ictus ischemico acuto

La disfagia orofaringea è spesso presente durante la fase acuta di un ictus. Lo scopo di questo lavoro è stato quello di valutare se la registrazione elettromiografica di superficie tramite un elettrodo nasofaringeo può essere impiegata per testare l'attività muscolare del faringe nei pazienti con ictus acuto e se queste misurazioni elettrofisiologiche possono essere correlate con la valutazione clinica della deglutizione. Dal punto di vista clinico la severità del quadro è stata valutata mediante l'utilizzo della scala del National Institute of Health Stroke (NIHSS); la disfagia è stata valutata mediante il test di screening Gugging Swallowing Scale (GUSS); l'estensione della lesione ischemica alla TAC è stata misurata attraverso l'Alberta Stroke Programme Early CT Score (ASPECTS). Abbiamo valutato 70 pazienti di cui 50 disfagici (Dys+), e 20 non disfagici (Dys). Ciascun partecipante è stato sottoposto a un'elettromiografia di superficie registrata mediante un elettrodo NP costituito da un catetere di Teflon isolato in acciaio (lungo 16 cm e con un diametro in punta di 1,5 mm). L'elettrodo è stato inserito attraverso la cavità nasale, ruotato e posizionato approssimativamente 3 mm antero-inferiormente rispetto alla volta salpingo-palatina. Per ogni partecipante sono state registrate ed analizzate le risposte elettromiografiche di almeno quattro deglutizioni volontarie ripetute. La deglutizione induce sempre all'elettromiografia burst ripetitivi e polifasici di durata compresa fra 0,25 e 1 secondo, con un'ampiezza intorno ai 100-600mV. I disfagici hanno mostrano una maggiore durata del burst rilevato all'elettromiografia rispetto ai non disfagici, con una differenza statisticamente significativa (p < 0,001), ma non hanno mostrano differenze in termini di ampiezza del burst stesso (p = 0,775); quest'ultima invece era inversamente correlata con lo NIHSS score [r(48) = 0,31; p < 0,05)] e con lo ASPECTS score [r(48) = 0,27; p < 0,05]. Questi risultati suggeriscono che le registrazioni nasofaringee possono rappresentare un indice semi-quantitativo delle difficoltà deglutitorie secondarie a disfunzione faringea ed in particolare, i risultati dell'elettromiografia sarebbero indicativi di una ridotta motilità faringea durante la fase acuta di un ictus

Validation of the italian version of the Cluster Headache Impact Questionnaire (CHIQ)

Background: The Cluster Headache Impact Questionnaire (CHIQ) is a specific and easy-to-use questionnaire to assess the current impact of cluster headache (CH). The aim of this study was to validate the Italian version of the CHIQ. Methods: We included patients diagnosed with episodic CH (eCH) or chronic CH (cCH) according to the ICHD-3 criteria and included in the “Italian Headache Registry” (RICe). The questionnaire was administered to patients through an electronic form in two sessions: at first visit for validation, and after 7 days for test-retest reliability. For internal consistency, Cronbach’s alpha was calculated. Convergent validity of the CHIQ with CH features and the results of questionnaires assessing anxiety, depression, stress, and quality of life was evaluated using Spearman’s correlation coefficient. Results: We included 181 patients subdivided in 96 patients with active eCH, 14 with cCH, and 71 with eCH in remission. The 110 patients with either active eCH or cCH were included in the validation cohort; only 24 patients with CH were characterized by a stable attack frequency after 7 days, and were included in the test-retest cohort. Internal consistency of the CHIQ was good with a Cronbach alpha value of 0.891. The CHIQ score showed a significant positive correlation with anxiety, depression, and stress scores, while showing a significant negative correlation with quality-of-life scale scores. Conclusion: Our data show the validity of the Italian version of the CHIQ, which represents a suitable tool for evaluating the social and psychological impact of CH in clinical practice and research

Chronic paroxysmal hemicrania in paediatric age: report of two cases

Chronic paroxysmal hemicrania (CPH) is a rare primary headache syndrome, which is classified along with hemicrania continua and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) as trigeminal autonomic cephalalgia (TACs). CPH is characterised by short-lasting (2–30 min), severe and multiple (more than 5/day) pain attacks. Headache is unilateral, and fronto-orbital-temporal pain is combined with cranial autonomic symptoms. According to the International Classification of Headache Disorders, 2nd edition, the attacks are absolutely responsive to indomethacin. CPH has been only rarely and incompletely described in the developmental age. Here, we describe two cases concerning a 7-year-old boy and a 11-year-old boy with short-lasting, recurrent headache combined with cranial autonomic features. Pain was described as excruciating, and was non-responsive to most traditional analgesic drugs. The clinical features of our children’s headache and the positive response to indomethacin led us to propose the diagnosis of CPH. Therefore, our children can be included amongst the very few cases of this trigeminal autonomic cephalgia described in the paediatric age

Bone preservation in human remains from the Terme del Sarno at Pompeii using light microscopy and scanning electron microscopy

Abstract Archaeological bone can show marked and complex alterations depending on the environment in which it was buried. In this study, the state of preservation of 27 femurs recovered from the archaeological site of Pompeii was evaluated by light microscopy and scanning electron microscopy. Most of the bone samples, prepared by the grinding method, showed good histological preservation, although they were characterized by microfissures (microcracking). Nine bone samples showed different states of histological preservation, including worst preservation (two femurs), due to diagenetic processes. Cryostat bone sections stained with thionin or 4#,6#-diamidino-phenylindole (DAPI) revealed the persistence of DNA within some osteocyte lacunae. Scanning electron microscopy analysis showed that ultrastructural characters, such as lamellae and collagen fibres, are recognizable only in unaltered bone. Our results reveal that most Pompeian samples are well preserved since they have a bone microstructure virtually indistinguishable from that of fresh bone. In methodological terms, although each of the various morphological methods used contributes information, histological and histochemical analyses are the most informative for studying the preservation state of bone and allow for rapid essential screening of archaeological bone

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phe-notypes are seen in affected males. The childhood cerebral form manifests usually between ages 4 and 8 years. It initially resembles attention deficit disorder or hyperactivity. Progressive central demyelination with impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within 2 years. The second phenotype, adrenomyeloneuropathy, manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. The third phenotype, 'Addison disease only', presents with primary adrenocortical insufficiency between age 2 years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality. Approximately 50% of females who are carriers develop neurologic manifestations that resemble adrenomyeloneuropathy but have a later onset (age ≥35 years) and a milder disease. In this review, we will give an overview of the present understanding of ALD, and the implications of new diagnostics and treatment

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phe-notypes are seen in affected males. The childhood cerebral form manifests usually between ages 4 and 8 years. It initially resembles attention deficit disorder or hyperactivity. Progressive central demyelination with impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within 2 years. The second phenotype, adrenomyeloneuropathy, manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. The third phenotype, 'Addison disease only', presents with primary adrenocortical insufficiency between age 2 years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality. Approximately 50% of females who are carriers develop neurologic manifestations that resemble adrenomyeloneuropathy but have a later onset (age 6535 years) and a milder disease. In this review, we will give an overview of the present understanding of ALD, and the implications of new diagnostics and treatment