Concussed patients with visually induced dizziness exhibit increased ocular torsion and vertical vergence during optokinetic gaze-stabilization.

Visually Induced Dizziness (VID) is a common post-concussion sequalae that remains poorly understood and difficult to quantify. The present study aims to identify biomarkers for VID in the form of gaze-stabilizing eye movements. Nine patients with post-commotio VID and nine age-matched healthy controls were recruited by physiotherapists at a local neurorehabilitation centre. Torsional and vergence eye movements were recorded while participants viewed a series of optokinetic rotations where the central- and peripheral regions moved coherently, incoherently, or semi-randomly. Results showed that vergence and torsional velocities were increased in VID patients, reflecting increased oculomotor gain to visual motion, and that responses correlated with symptom severity. Coherent stimulation produced fastest torsional slow-phases across all participants; when faced with confliction directional information, eye movements tended to follow the direction of the central visual field, albeit at slower velocities than during coherent motion, meaning that while torsion was sensitive to visual content of the entire visual field it expressed directional preference to the central stimulation. In conclusion, post-commotio VID was associated with faster slow-phases during optokinetic gaze-stabilization, with both vergence and torsion being correlated to symptom intensity. As torsional tracking remains inaccessible using commercial eye-trackers, vertical vergence may prove particularly accessible for clinical utility.

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.

BACKGROUND: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. In all subjects sleep and awake EEG, brain MRI with study of pituitary gland, chest X-rays, endocrinological investigations were performed. Movement disorders, pattern of sleep and related disorders were investigated using structured clinical evaluation and several validated questionnaires. RESULTS: In patients carrying NKX2-1 mutations, chorea was mainly distributed in the upper limbs and tended to improve with age. All patients presented clinical or subclinical hypothyroidism and delayed motor milestones. Three subjects had symptoms consistent with Restless Legs Syndrome (RLS) that improved with Levodopa. CONCLUSIONS: Patients with NKX2-1 gene mutations should be investigated for RLS, which, similarly to chorea, can sometimes be ameliorated by Levodopa.

Unreliability of classic provocative tests for the diagnosis of growth hormone deficiency.

In this study we investigated 9 prepubertal children with blunted GH response to classic pharmacological stimuli in contrast with normal auxological evaluation. The children were followed to evaluate their growth velocity for a longer period before starting replacement GH therapy. To evaluate the pituitary reserve a supraphysiologic stimulus such as GHRH plus arginine was used. Serum GH levels were measured by a time-resolved immunofluorimetric assay before and after 1 microg/kg body weight iv injection of GHRH, while serum PRL, IGF-I, and insulin were evaluated only in basal conditions using an automatic immunometric assay. Out of 9 studied subjects, 7 underwent GHRH plus arginine administration and showed a normal GH response; the parents of the remaining 2 children refused the test. Normal serum levels of PRL, IGF-I, insulin, and a normal insulin sensitivity were observed in all children. After 1 yr, the growth rate in each patient was further improved and reached almost normal values. Our results further confirm that the decision to start replacement GH therapy should be based on both auxological parameters and laboratory findings. The GHRH plus arginine test appears to be useful to identify false GH deficiency in children showing a blunted GH response to classic stimuli in contrast with normal growth rate.

Modified intraoral maxillo-malar osteotomy: long-term results in 16 consecutive cases.

The authors report their experience with sixteen consecutive cases of maxillo-malar osteotomy via an intraoral approach. Some technical expedients and modifications to the original technique are described here. This procedure was associated in all cases with bilateral sagittal splitting of the mandible and in two cases with vertical reduction of the chin. Results from this series confirm the reliability of this technique and the stability of functional and aesthetic results.

Endosseous implants for prosthetic rehabilitation in bone grafted alveolar clefts.

The authors report their experience in the surgical and prosthetic rehabilitation of three patients affected by sequelae of cleft lip and palate, with residual alveolar cleft and absence of maxillary anterior teeth. The patients were treated by means of late secondary bone grafting of the alveolar cleft, followed by the insertion of endosseous titanium plasma-sprayed implants (IMZ). After a further healing period (6-12 months) fixed dental prostheses were constructed. Preliminary results from this series have shown how dental prostheses supported by endosseous implants in grafted alveolar clefts are a very reliable possibility in dental rehabilitation of this malformation.

[The superior thoracic outlet compression syndrome: a report of a case in childhood with complete cervical rib]. / Sindrome compressiva dello stretto toracico superiore: descrizione di un caso in età pediatrica con costa cervicale completa.

Authors report a paediatric patient with thoracic outlet syndrome (TOC) and complete cervical rib. The symptoms at the time of presentation result from pressure on either the subclavian vessels or the lower trunk of the brachial plexus. TOC is infrequent in young people and usually the symptomatology does'nt need a surgical approach. Some Authors affirm that there are necessary impulsive moments like growth, increased muscular mass and rib ossification, decreased elasticity of ligaments, vessels, muscles and nerves, for outcoming the clinical manifestations. Paediatric competention has risen until adolescent age and may be more frequent the observation of this syndrome that present problems of both diagnosis and management.

[Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers]. / Mucopolisaccaridosi tipo IS: sindrome di Scheie. Descrizione di due fratelli.

We describe two brothers affected by MPS type IS (Scheie syndrome). Mucopolysaccharidosis type I consists of three clinical entities of varying severity, all due to alfalevo-iduronidase enzyme deficiency. The MPS IS in characterized by joint stiffness, aortic valve disease and corneal clouding. The intellect is normal. All these findings are present on our brothers; furthermore retinal degeneration also occurred. It could give in the future attendant deterioration of vision.

[Hypoglycemia secondary to transitory hyperinsulinism in infancy: a case report]. / Ipoglicemia da iperinsulinismo transitorio nel lattante: descrizione di un caso clinico.

We refer about an infant with transitory hyperinsulinism who first developed symptoms at the age of nine month treated with diazoxide. The therapy was successfully discontinued at the age of twenty-one month. The follow-up until the age of 38 month revealed a normal growing up and a normal neurological development. The main cause of hypoglycaemia are discussed referring the different cases of hyperinsulinism of the recent literature.

[Facial paralysis secondary to arachnoid cysts. Description of a case in a girl with precocious puberty]. / Paralisi del facciale secondaria a cisti aracnoidea. Descrizione di un caso in una ragazza affetta da pubertà precoce.

Arachnoid cysts are unusual in childhood. We describe a case of arachnoid cyst in a girl with precocious puberty. The cyst caused facial paralysis from compression. A link between arachnoid cyst and precocious puberty was excluded by cerebral TAC. We briefly discuss the aetiology and topography of arachnoid cysts.

[Arthritis caused by type B Haemophilus influenzae. Description of 2 cases]. / Artrite da Haemophilus influenzae tipo B. Descrizione di due casi.

Haemophilus Influenzae type B is perhaps the most important pathogen in childhood. H.I. is the most common cause of bacterial septic arthritis in children under 2 years of age in the U.S.A. We describe two cases of H.I. septic arthritis and we discuss the the treatment. The antibiotic therapy is invasive H.I. type B disease is in a period of transition. New drugs are available that offer the same therapeutic efficacy as Ampicillin and Chloramphenicol but with decreased toxicity.