Nasal response to stress test in healthy subjects: an experimental pilot study

European Archives of Oto-Rhino-Laryngology - Stress has been suspected to play a role in rhinitis. The role of stress on nasal patency has been not yet elucidated. The aim was to evaluate the...     

Ischemic stroke in young women: risk of recurrence during subsequent pregnancies. French Study Group on Stroke in Pregnancy

OBJECTIVE: To assess whether subsequent pregnancies increase the risk of recurrent stroke and whether the occurrence of an ischemic stroke affects reproductive history. METHODS: The authors identified 489 consecutive women aged 15 to 40 years with a first-ever arterial ischemic stroke or cerebral venous thrombosis from the record system of nine French neurologic centers. Information on stroke recurrence and reproductive history was obtained by means of chart review, written questionnaire, and telephone interview. RESULTS: Data were analyzed from 441 women (373 with arterial ischemic stroke and 68 with cerebral venous thrombosis). During a mean follow-up of 5 years, 13 arterial recurrent ischemic strokes occurred. There were no cases of recurrent cerebral venous thrombosis. The overall risk of recurrence was 1% within 1 year and 2.3% within 5 years. The risk of recurrence was significantly higher in patients with stroke of definite cause. Eleven recurrent strokes occurred outside pregnancy (absolute risk of recurrence = 0.5%; 95% CI 0.3, 0.95) and two during pregnancy or the puerperium (absolute risk of recurrence = 1. 8%; 95% CI 0.5, 7.5). The relative risk of recurrence was significantly higher during the postpartum period (risk ratio = 9.7; 95% CI 1.2, 78.9) than during pregnancy (risk ratio = 2.2; 95% CI 0. 3, 17.5) itself. The outcome of the 187 subsequent pregnancies was similar to that expected from the general population. Thirty-four percent of women indicated that they would have desired more pregnancies after their initial stroke. The main reasons for not considering pregnancy were concern of a recurrent stroke, medical advice against pregnancy, and residual handicap. CONCLUSION: Young women with a history of ischemic stroke have a low risk of recurrence during subsequent pregnancies. The postpartum period, not the pregnancy itself, is associated with an increased risk of recurrent stroke. The outcome of pregnancies in these women appears to be similar to that expected in the general population. A previous ischemic stroke is not a contraindication to a subsequent pregnancy.     

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

White‐Sutton syndrome (WHSUS) is a recently‐identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants. We observed a broad spectrum of intellectual disability and/or developmental delay with or without autism, and speech delay in all individuals. Other common problems included ocular abnormalities, hearing loss and gait abnormalities. A validated sleep disordered breathing questionnaire identified symptoms of obstructive sleep apnea in 4/12 (33%) individuals. A higher‐than‐expected proportion of cases also had gastrointestinal phenotypes, both functional and anatomical, as well as genitourinary anomalies. In line with previous publications, we observed an increased body mass index (BMI) z‐score compared to the general population (mean 0.59, median 0.9; p 0.0253). Common facial features included microcephaly, broad forehead, midface hypoplasia, triangular mouth, broad nasal root and flat nasal bridge. Analysis of the Baylor Genetics clinical laboratory database revealed that POGZ variants were implicated in approximately 0.14% of cases who underwent clinical exome sequencing for neurological indications with or without involvement of other body systems. This study describes a greater allelic series and expands the phenotypic spectrum of this new syndromic form of intellectual disability and autism.     

Planning of an interceptive movement in children

In the present study, we examined the spatio-temporal organization of the walking and reaching behaviour during an interception task in younger (6–9 years old) and older (10–13 years old) children. To this end, eighteen children had to walk towards an interception point to grasp a moving ball under three visual manipulation conditions. Walking and reaching behaviour were analysed during a condition allowing full vision of the ball trajectory and during two conditions in which vision towards the ball was partly occluded (enhanced planning requirement). The velocity of the ball was adapted to 50 or 70% of the maximum walking velocity of the participant. Results revealed that both younger and older children show a less accurate performance when the ball trajectory was occluded, while the walking profile and timing of the reach was not influenced by the occlusion manipulations. The findings seem to suggest that both groups were less accurate when the necessity of planning was enhanced.     

Erratum to: Efficacy and safety of piascledine 300 versus chondroitin sulfate in a 6 months treatment plus 2 months observation in patients with osteoarthritis of the knee

Clinical Rheumatology -