Pathogenesis and outcomes of traumatic injuries of the esophagus

Traumatic injury of the esophagus is extremely uncommon. The aims of this study were to use the Pennsylvania Trauma Outcome Study (PTOS) database to identify clinical factors predictive of esophageal trauma, and to report the morbidity and mortality of this injury. A cross‐sectional review of patients presenting to 20 Level I trauma centers in Pennsylvania from 2004 to 2010 was performed. We compared clinical and demographic variables between patients with and without esophageal trauma both prior to and after arrival in the emergency room (ER). Primary mechanism of injury and clinical outcomes were analyzed. There were 231 694 patients and 327 (0.14%) had esophageal trauma. Patients with esophageal trauma were considerably younger than those without this injury. The risk of esophageal trauma was markedly increased in males (odds ratio [OR] = 2.62 [CI 1.98–3.47]). The risk was also increased in African Americans (OR = 4.61 [CI 3.65–5.82]). Most cases were from penetrating gunshot and stab wounds. Only 34 (10.4%) of esophageal trauma patients underwent an upper endoscopy; diagnosis was usually made by CT, surgery, or autopsy. Esophageal trauma patients were more likely to require surgery (35.8% vs. 12.5%; P < 0.001). Patients with esophageal trauma had a substantially higher mortality than those without the injury (20.5% vs. 1.4%; P < 0.005). In logistic regression modeling, traumatic injury of the esophagus (OR = 3.43 [2.50–4.71]) and male gender (OR = 1.52 [1.46–1.59]) were independently associated with mortality. For those patients with esophageal trauma, there was an association between trauma severity and mortality (OR = 1.10 [1.07–1.12]) but not for undergoing surgery within the first 24 hours of hospitalization (OR = 0.84; 0.39–1.83). Our study on traumatic injury of the esophagus is in concordance with previous studies demonstrating that this injury is rare but carries considerable morbidity (～46%) and mortality (～20%). The injury has a higher morbidity and mortality when the thoracic esophagus is involved compared to the cervical esophagus alone. The injury most commonly occurs in younger, Black males suffering gunshot wounds. Efforts to control gun violence in Pennsylvania are of paramount importance.     

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Peters plus syndrome (PPS) is a rare autosomal‐recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we describe screening of 64 patients affected with PPS, isolated Peters anomaly and PPS‐like phenotypes. Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic PPS and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. A total of nine different pathogenic alleles were identified. Five alleles are novel including one frameshift, c.168dupA, p.(Gly57Argfs*11), one nonsense, c.1234C>T, p.(Arg412*), two missense, c.1045G>A, p.(Asp349Asn) and c.1181G>A, p.(Gly394Glu), and one splicing, c.347+5G>T, mutations. Consistent with previous reports, the c.660+1G>A mutation was the most common mutation identified, seen in eight of the nine patients and accounting for 55% of pathogenic alleles in this study and 69% of all reported pathogenic alleles; while two patients were homozygous for this mutation, the majority had a second rare pathogenic allele. We also report the absence of B3GALTL mutations in 55 cases of PPS‐like phenotypes or isolated Peters anomaly, further establishing the strong association of B3GALTL mutations with classic PPS only.     

Dribbling of saliva in children with cerebral palsy and its management

Summary Drooling is a serious disability in cerebral palsy. Analysis of 50 such cases treated surgically has been reported. This study shows that drooling can be corrected by converting the anterior overflow into swallowing, and the posterior submucosal tube extension of the parotid duct considerably improved the results. In children under 3 years of age, or with minimal drooling or as a salvage, excision of the submandibular glands promises satisfactory results. Myotomy of the mylohyoid is indicated whenever open mouth deformity is present in such cases.     

Generation of embryonic stem cells and transgenic mice expressing green fluorescence protein in midbrain dopaminergic neurons

We have generated embryonic stem (ES) cells and transgenic mice with green fluorescent protein (GFP) inserted into the Pitx3 locus via homologous recombination. In the central nervous system, Pitx3-directed GFP was visualized in dopaminergic (DA) neurons in the substantia nigra and ventral tegmental area. Live primary DA neurons can be isolated by fluorescence-activated cell sorting from these transgenic mouse embryos. In culture, Pitx3-GFP is coexpressed in a proportion of ES-derived DA neurons. Furthermore, ES cell-derived Pitx3-GFP expressing DA neurons responded to neurotrophic factors and were sensitive to DA-specific neurotoxin N-4-methyl-1, 2, 3, 6-tetrahydropyridine. We anticipate that the Pitx3-GFP ES cells could be used as a powerful model system for functional identification of molecules governing mDA neuron differentiation and for preclinical research including pharmaceutical drug screening and transplantation. The Pitx3 knock-in mice, on the other hand, could be used for purifying primary neurons for molecular studies associated with the midbrain-specific DA phenotype at a level not previously feasible. These mice would also provide a useful tool to study DA fate determination from embryo- or adult-derived neural stem cells.     

Infliximab for chronic cystoid macular edema associated with uveitis

PURPOSE: To assess the efficacy of the anti-TNF monoclonal antibody infliximab in uveitis patients without clinically evident ocular inflammation and impaired visual acuity because of chronic cystoid macular edema (CME). DESIGN: Prospective, noncomparative, interventional case series. METHODS: Patients with refractory CME (14 eyes, mean duration of 14 months), associated with intermediate uveitis (n = 6), Adamantiades-Behcet disease (n = 2), adult-type vascular pseudotumor (n = 1), and HLAB27+-related uveitis (n = 1) received an intravenous infliximab infusion (5 mg/kg); five patients were retreated after 1 month. RESULTS: Macular thickness, measured by ocular coherence tomography, was reduced from 428 +/- 138 microm to 219 +/- 51 microm at 2 months postbaseline (P = .0001), while visual acuity increased from 0.41 +/- 0.18 to 0.83 +/- 0.17 (P < .00001). Anatomic and functional improvement was sustained at 6 months in all. No ocular or extra-ocular side effects were noted. CONCLUSION: These promising results suggest that TNF may play an important pathogenetic role in chronic CME, thus, a controlled trial is warranted.