Tremulous spastic ataxia in a patient with a homozygous truncating variant.

We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.

A Novel C-C Chemoattractant Cytokine (Chemokine) Receptor 6 (CCR6) Antagonist (PF-07054894) Distinguishes between Homologous Chemokine Receptors, Increases Basal Circulating CCR6 T Cells, and Ameliorates Interleukin-23-Induced Skin Inflammation.

Blocking chemokine receptor C-C chemoattractant cytokine (chemokine) receptor (CCR) 6-dependent T cell migration has therapeutic promise in inflammatory diseases. PF-07054894 is a novel CCR6 antagonist that blocked only CCR6, CCR7, and C-X-C chemoattractant cytokine (chemokine) receptor (CXCR) 2 in a -arrestin assay panel of 168 G protein-coupled receptors. Inhibition of CCR6-mediated human T cell chemotaxis by (R)-4-((2-(((1,4-Dimethyl-1H-pyrazol-3-yl)(1-methylcyclopentyl)methyl)amino)-3,4-dioxocyclobut-1-en-1-yl)amino)-3-hydroxy-N,N-dimethylpicolinamide (PF-07054894) was insurmountable by CCR6 ligand, C-C motif ligand (CCL) 20.

No evidence of disease activity is associated with reduced rate of axonal retinal atrophy in MS.

Objective: To explore, in a longitudinal study, the usefulness of optical coherence tomography (OCT) in monitoring people with multiple sclerosis (MS) by testing the association between retinal nerve fiber layer (RNFL) thinning and clinical and brain MRI criteria of no evidence of disease activity (NEDA).

Methods: OCT, visual evoked potentials (VEPs), and disability, using the Expanded Disability Status Scale (EDSS), were tested at baseline and after 2 years in 72 patients, 63 with routine yearly brain MRI.

Results: Longitudinal mean binocular RNFL thinning, in absence of optic neuritis during follow-up, was correlated with EDSS worsening, also controlling for baseline EDSS, RNFL, disease duration, and MS subtype (Spearman ρ -0.

Long-Term Follow-Up of Testicular Microlithiasis in Children and Adolescents: Multicenter Prospective Cohort Study of the Italian Society of Pediatric Urology.

 Testicular microlithiasis (TM), characterized by the presence of intratubular calcifications in a single or both the gonads, is an uncommon entity with unknown etiology and outcome in pediatric and adolescent age. In this study, the results of a multicenter long-term survey are presented.  From 11 units of pediatric urology/surgery, patients with TM were identified and yearly, followed up in a 7-year period, adopting a specific database.

Defining minor symptoms in acute ischemic stroke.

Background: Thrombolysis is often withheld from acute ischemic stroke patients presenting with mild symptoms; however, up to 40% of these patients end up with a poor outcome when left untreated. Since there is lack of consensus on the definition of minor symptoms, we aimed at addressing this issue by looking for features that would better predict functional outcomes at 3 months.

Methods: Among all acute ischemic stroke patients admitted to our Stroke Unit (n = 1,229), we selected a cohort of patients who arrived within 24 hours from symptoms onset, with baseline NIHSS ≤6, not treated with thrombolysis (n = 304).

Rare case of an adrenocortical neoplasm: A case report and review of literature.

Adrenocortical neoplasms (ACNs) are rare and poorly characterized in infants. The true incidence of ACNs is not well known and it appears to vary substantially across different geographical areas. ACNs are more common in females and two peaks of incidence have been identified: The first year of life and between the age of nine and 16 years.

Deep repetitive transcranial magnetic stimulation with H-coil on lower limb motor function in chronic stroke: a pilot study.

Objectives: To assess the efficacy of high-frequency (20 Hz) brain stimulation on lower limb motor function in subjects with chronic (> 6 mo) subcortical stroke.

Design: Double-blind, placebo-controlled crossover study.

Setting: University hospital.

Optical coherence tomography and visual evoked potentials: which is more sensitive in multiple sclerosis?

Objective: To assess the sensitivity of optic coherence tomography (OCT) and visual evoked potentials (VEPs) to visual pathway abnormalities in multiple sclerosis (MS).

Methods: A total of 40 MS subjects, 28 with optic neuritis (ON) at least 3 months before (bilateral in 5), underwent assessment of visual acuity, Expanded Disability Status Scale (EDSS), OCT and VEPs, the latter quantified with a 0-4 conventional score.

Results: OCT and VEPs were abnormal in 36% and 56% respectively in all eyes (p=0.

Thoracoscopic thymectomy in children: our preliminary experience.

Introduction: The aim of this study is to present a preliminary series of six children affected by an anterior mediastinal mass, resulting in a thymoma. We treated this pediatric population by a video-assisted thoracoscopic thymectomy.

Patients And Methods: We performed a retrospective study from January 2000 to January 2012 of all children affected by an anterior mediastinal mass, resulting in a thymoma.

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina. Patients were raised five as females and two as males. They are all unrelated with the exception of two couples of brothers.

Juvenile granulosa cell tumor of the testis: prenatal diagnosis and prescrotal approach.

Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors. As a benign neoplasm, radical orchiectomy is sufficient for treatment.

Littre's hernia in newborn infants: report of two cases.

Littre's hernia was originally defined by Reinke in 1841 as "the presence of a Meckel's diverticulum in any hernial sac." It is generally difficult to differentiate from other types of hernia until complications arise. It is a rare and accidental finding at any age, but it is absolutely exceptional in neonates.

Abnormal oral mucosal light reflectance in infantile hypertrophic pyloric stenosis.

Objectives: Infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring surgical intervention during the first weeks of life. The etiology of IHPS is unknown, although both neuronal nitric oxide synthase upregulation and an extracellular matrix abnormality are suspected. Familial predisposition is an important feature.

Polyhydramnios: a predictor of severe growth impairment in achondroplasia.

The phenotypical characteristics in 20 children with achondroplasia were examined in relation to the occurrence of polyhydramnios. A history of polyhydramnios (9 of 20 cases) was associated with a lower height (SD) (P <.05), more severe shortening of the lower segment and upper limbs (P =.

Neonatal intestinal occlusion due to duodenal duplication in association with malformed gallbladder sludge.

Duodenal duplications are rare observations which can be diagnosed during early pregnancy via US scan. In the neonate they are often cause for intestinal occlusions. Surgical treatment can be limited by the duplication's anatomical interrelationships with adjacent organs.