Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion

A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short V metacarpals, and hyperlaxity of the joints. Neuropsychiatric examination disclosed obsessive, ritualistic behaviours and vague ideas of reference. Neuropsychological assessment demonstrated mild intellectual disability, mental inflexibility and incongruent affect. MRI-scanning of the brain showed no relevant abnormalities. Genome wide SNP array analysis revealed a 1.2 Mb de novo interstitial microdeletion in 4q25 comprising 11 genes, that was considered to be causative for the developmental delay, perseverative cognitive phenotype and dysmorphisms.To the authors knowledge, this is the first report of a de novo 4q25 microdeletion that presents with a specific behavioural phenotype.     

Urinary incontinence in schizophrenic patients treated with atypical antipsychotics: urodynamic findings and therapeutic perspectives

Objective

The present study was a urodynamic evaluation of schizophrenic patients with urinary incontinence occurring during treatment with atypical antipsychotics

Methods

A total of 12 schizophrenic patients (mean age?=?30.7 years, SD?=?6.5) presenting urinary incontinence during treatment with atypical antipsychotics at stable doses underwent urodynamic evaluations. Clinical assessment included the administration of Positive and Negative Syndrome Scale (PANSS)

Results

Four patients out of 12 presented urodynamic patterns consistent with an overactive bladder, while five patients presented reduced bladder compliance; only three patients showed normal urodynamic patterns

Conclusion

Detrusor overactivity is a condition associated with urinary incontinence in schizophrenic patients treated with atypical antipsychotics. Urodynamic evaluations can improve our knowledge of the mechanisms that subtend atypical antipsychotic-induced incontinence, an invalidating side-effect with strong repercussion on compliance and rehabilitation in schizophrenic patients     

Cognitive rehabilitation after severe acquired brain injury: current evidence and future directions

Severe acquired brain injury (SABI) is damage to the brain, occurring after birth from traumatic or non-traumatic causes, and often resulting in deterioration of physical, cognitive, and emotional functions. Cognitive rehabilitation (CR) is aimed to help brain-injured or otherwise cognitively impaired individuals to restore normal functioning, or to compensate for cognitive deficits. Over the last years, the development of new technologies in the field of CR has led to a growing use of computer-based cognitive tools in patients with SABI. This review aims to investigate the efficacy of CR in individuals suffering from SABI, and evaluates the role of virtual reality and other innovative technologies in improving behavioural and functional outcomes. The current evidence for CR in the treatment of SABI-related deficits does not allow conclusive results to be achieved and further research is needed to identity the patient and treatment factors that contribute to successful outcomes.     

Signals of cell death and tissue turnover during physiological pregnancy,pre-eclampsia,and autoimmunity

Apoptosis normally occurs in the human placenta. As a consequence, cell blebs, post-apoptotic debris (also referred to as syncytial knots) and membrane microparticles are released into the blood of pregnant women. These events become prominent during the best-characterized pregnancy complication, pre-eclampsia. An excessive or deregulated cell death, which results in the generation of an overwhelming burden of apoptotic material, alarms the immune system. This plays a role in the pathogenesis of systemic connective tissue diseases and possibly of small vessels vasculitis. Infiltration of leukocytes and activation of endothelial cells and platelets are hallmarks of normal pregnancy, indicating that physiologic pregnancy is a condition characterized by an activation of the innate immune system. Conversely, a failure in the physiologic termination of inflammatory events is probably a requirement for pre-eclampsia to develop. Here, we discuss recent findings suggesting a link between deregulated disposal of placental debris, the generation of endogenous pro-inflammatory signals (alarmins) and the widespread vascular inflammation that characterizes on one hand pre-eclampsia and on the other systemic autoimmune diseases.     

Role of negative affects in pathophysiology and clinical expression of irritable bowel syndrome

Irritable bowel syndrome(IBS)is regarded as a multifactorial disease in which alterations in the brain-gut axis signaling play a major role.The biopsychosocial model applied to the understanding of IBS pathophysiology assumes that psychosocial factors,interacting with peripheral/central neuroendocrine and immune changes,may induce symptoms of IBS,modulate symptom severity,influence illness experience and quality of life,and affect outcome.The present review focuses on the role of negative affects,including depression,anxiety,and anger,on pathogenesis and clinical expression of IBS.The potential role of the autonomic nervous system,stress-hormone system,and immune system in the pathophysiology of both negative affects and IBS are taken into account.Psychiatric comorbidity and subclinical variations in levels of depression,anxiety,and anger are further discussed in relation to the main pathophysiological and symptomatic correlates of IBS,such as sensorimotor functions,gut microbiota,inflammation/immunity,and symptom reporting.     

A case of acute esophageal necrosis (black esophagus) in a young man with Down syndrome

Acute esophageal necrosis, commonly referred to as ‘black esophagus?, is a rare clinical entity arising from a combination of ischemic insult, corrosive injury and decreased function of mucosal barrier systems and reparative mechanisms present in debilitating diseases. We describe the case of an 18-year-old man affected by Down syndrome, presenting with a streptococcus β-hemolytic group A infection of the upper airways. Although the patient was intensively treated with antibiotics, he developed a streptococcal toxic shock-like syndrome and died 5 days after admission. At autopsy, circumferential black discoloration of the esophageal mucosa that extended along the entire esophagus and ended abruptly at the esophageal-gastric junction was found. Neither ulceration nor esophageal perforation were present. Black esophagus is well known to the gastroenterology community, whereas it has been described only twice in the pathology literature. To the best of our knowledge, this is the first case ever reported complicating a streptococcal infection.