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The increased survival of urea cycle disorders (UCDs) patients has led the attention to clinical manifestations that characterize the long-term disease course. Acute and chronic liver disease have been anecdotally reported since the very first description of UCDs. However, a detailed analysis of long-term liver involvement in large patient cohorts is still needed. Chronic liver damage in UCDs has probably a multifactorial origin, but the specific underlying mechanisms of liver disease have not yet been well elucidated. In this study, we report on chronic liver involvement and on associated metabolic abnormalities in a large cohort of 102 UCD patients, followed by two reference centers in Italy. Chronic liver involvement was observed in over 60% of UCDs patients, and comparison between individual diseases showed a significant higher frequency in argininosuccinate lyase deficiency (ASLD) and in hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome with elevation of transaminases and of gamma-GT in ASLD, and of alpha-fetoprotein in HHH syndrome. Also, consistent with a chronic hepatic dysfunction, ultrasound examination revealed more pronounced abnormalities in ASLD and in HHH syndrome, when compared to other UCDs. Our study highlights in a large UCDs patients' cohort that chronic liver disease is a common finding in UCDs, often with a distinct phenotype between different diseases. Furthers studies are needed to elucidate the specific involvement of different metabolic pathways in the pathogenesis of liver dysfunction in UCDs., (© 2019 SSIEM.)

Background: There are no medications approved for as-needed use for feared situations for individuals with social anxiety disorder (SAD). In the present study, intranasal PH94B was provided for use as needed during stressful events., Methods: Twenty-two subjects were randomized (double-blind) to 2 weeks of treatment with intranasal PH94B or placebo. Following self-administration of medication prior to a feared event, peak levels of anxiety were recorded using the Subjective Units of Distress Scale (SUDS). After 2 weeks, subjects were crossed over to the opposite treatment for 2 weeks. Average peak SUDS during treatment with PH94B and placebo were compared using a paired t-test., Results: Significant differences in favor of PH94B were found on the primary outcome measure: mean peak SUDS change from baseline for all subjects receiving PH94B was 15.6 points versus 8.3 points for placebo (paired t = 3.09, P = .006, effect size of .658). PH94B showed less superiority over placebo when placebo was given second rather than first, likely due to a carryover effect. Looking between groups at just the first 2 weeks of treatment, PH94B also showed trend superiority to placebo on the Liebowitz Social Anxiety Scale (LSAS) (P = .07) and a significant difference on the Patient Global Impression of Change (P = .024) and the LSAS Avoidance subtotal (P = .02)., Conclusions: While further study is needed, these results, combined with earlier findings, suggest that PH94B could represent a useful as-needed treatment for SAD, and continue to validate the nasal chemosensory system as a novel mechanism for medication delivery., (© 2016 Wiley Periodicals, Inc.)

Background: Necrotizing colitis (NC) represents a severe, although rare, complication in patients with anorexia nervosa., Objective: We report the only case of NC with good prognosis in a severely malnourished AN patient., Method: Available patient records, imaging, and biochemical data were evaluated., Discussion: This case represents an unusual gastrointestinal complication and underlines the important clinical role that Parenteral Nutrition (PN) has for some selected very malnourished AN patients. The severe starvation may compromise the normal function of gastrointestinal tract and it can also lead to an incomplete tolerance of enteral refeeding thus making PN required to reach the nutritional rehabilitation., (Copyright © 2010 Wiley Periodicals, Inc.)

Occipital neuralgia may be related to traumatic, compressive, or inflammatory injury to the occipital nerve or C2 radicular level and cervical spinal cord lesions. We report a series of 3 patients with definite relapsing-remitting multiple sclerosis (MS) who experienced sudden occipital neuralgiform pain with or without diminished sensation in the cervical region and associated with magnetic resonance imaging (MRI) evidence of a new active or new T2-weighted demyelinating C2 cervical lesion. We suggest that sudden paroxysmal occipital pain may signal relapse of MS and cervical MRI with gadolinium should be considered; these patients show good clinical response to high-dose intravenous corticosteroids.

Our study focuses on the possible involvement of the Hedgehog (Hh) pathway in the differentiation of striated muscle fibres in cuttlefish (Sepia officinalis) mantle. We show here that both an hh-homolog signalling molecule and its receptor Patched (Ptc) are expressed in a specific population of myoblasts which differentiates into the radial fast fibres. To evaluate the functional significance of hh expression in developing cuttlefish, we inhibited the Hedgehog signalling pathway by means of cyclopamine treatment in cuttlefish embryos. In treated embryos, the gross anatomy was considerably compromised, displaying an extremely reduced mantle with a high degree of morphological abnormalities. TUNEL and BrdU assays showed that the absence of an hh signalling induces apoptosis and reduces the proliferation rate of muscle precursors. We therefore hypothesize a possible involvement of Hh and its receptor Ptc in the formation of striated muscle fibres in cuttlefish., ((c) 2008 Wiley-Liss, Inc.)