Δευτέρα 9 Ιουλίου 2018

Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine

The SHANK2 gene codes for a protein involved in organising the postsynaptic density and disruptions have been associated with autism spectrum disorders (ASDs). ASDs are frequently comorbid with intellectual disability and anxiety disorders and emerging evidence suggests potentially common aetiologies. Here, we report the case of an 18-year-old man with ASD who presented with severe anorexia due to fear of food contamination, food avoidance and stereotypies attributable to underlying obsessive compulsive disorder (OCD). The patient was found to be heterozygous for c.2518C>T (p.Pro840Ser), a likely damaging coding variant in the proline rich region of SHANK2. Interestingly, the patient's disordered eating behaviour began to improve only after high-dose fluoxetine was initiated to target OCD symptoms. Overall, this case highlights the utility of molecular genetic testing in clinical psychiatry and provides an example of how genetic information can inform clinicians in the treatment of complex neuropsychiatric syndromes.



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Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated wi...

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Triple thrombophilic simultaneous mutations in patients after bariatric surgery: is there a role for screening in the Eastern Mediterranean?



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Counting Backwards: A Doctor’s Notes on Anesthesia

No abstract available

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Moderate and Deep Sedation in Clinical Practice

No abstract available

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I Contain Multitudes: The Microbes Within Us and a Grander View of Life

No abstract available

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Comparison of GlideScope Video Laryngoscopy and Direct Laryngoscopy for Tracheal Intubation in Neonates

BACKGROUND: GlideScope video laryngoscope (GS) has been widely used to facilitate tracheal intubation in adults and pediatric patients because it can improve glottic view. Several investigations performed in pediatric patients have shown that GS provides a better view of the glottis than direct laryngoscope (DL). However, to date, there are no studies assessing the use of GS in neonates. Therefore, we conducted a prospective study to compare time to intubate (TTI) when either GS or DL was used for endotracheal intubation in neonates. METHODS: Seventy neonates (American Society of Anesthesiologists physical status I and II, scheduled to undergo elective surgery under general anesthesia) were randomized to GS group (n = 35) and DL group (n = 35). The primary outcome variable of the study was TTI. As secondary outcomes, success rate of first intubation attempt of all neonates, intubation attempts, and adverse events were also evaluated. The glottic views (depicted by Cormack and Lehane [C&L] grades) obtained with GS and DL were compared. RESULTS: There were no significant differences in TTIs of neonates with all C&L grades (95% CI, −7.36 to 4.44). There was also no difference in the subgroups of neonates with C&L grades I and II (n = 30 each; 95% CI, −0.51 to 5.04). However, GS significantly shortened the TTIs of neonates with C&L grades III and IV compared to DL (n = 5 each group; 95% CI, 4.94–46.67). GS improved the glottic view as compared to DL. Although the total tracheal intubation attempts in the GS group was fewer than that in the DL group (36 vs 41), there was no significant difference (P = .19). CONCLUSIONS: GS use did not decrease the TTI of all neonates and neonates with C&L grades I and II as compared to DL use; however, GS significantly decreased the TTI of neonates with C&L grades III and IV. Additionally, GS use provided improved glottic views. Accepted for publication May 31, 2018. Funding: None. The authors declare no conflicts of interest. Clinical trial number: ChiCTR1800014376, chictr.org.cn. Reprints will not be available from the authors. Address correspondence to Bingdong Tao, MD, PhD, Department of Anesthesiology of Shengjing Hospital, China Medical University, 36 Sanhao St Heping District, Shenyang, Liaoning Province, 110004, China. Address e-mail to sdream@vip.163.com. © 2018 International Anesthesia Research Society

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