Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

Objectives: This study collected national inpatient data to investigate the impact of hospital specialty and size on patient outcomes following mandibular distraction osteogenesis (MDO). Design: Kids’ Inpatient Database was used to identify patients less than 12 months of age with Pierre Robin sequence (PRS) who underwent MDO in one of the following years: 2006, 2009, and 2012. Setting: Inpatient database from the United States. Participants: Two hundred seventy-six patients with PRS underwent MDO with 134 (48.6%) identified as nonsyndromic and 142 (51.4%) as syndromic. Interventions: Mandibular distraction osteogenesis. Main Outcome Measures: Length of hospital stay, adjunct airway and nutritional interventions and disposition. Results: The average length of stay was 24 and 30 days for patients with nonsyndromic and syndromic PRS, respectively ( P = .066). Patients with a syndromic as compared to nonsyndromic diagnosis had a higher incidence of gastrostomy tube placement (21.8 vs 12.7%, P = .045). Univariate analysis showed that a lower proportion of patients at children’s hospitals as compared to non-children’s hospitals necessitated 1 or more airway or nutrition-related intervention (19/148 [12.8%] vs 31/127 [24.4%]; P = .012) and had a lower incidence of a nonroutine discharge (transfer or patient death; 7.4% vs 40.0% nonroutine; P < .001). Multivariable analysis additionally revealed that patients at children’s hospitals were less likely to discharge nonroutine (OR = 0.07, 95% CI: 0.02-0.32). Conclusions: Results from this national cohort demonstrated that at children-specific hospitals patients with PRS were less likely to require additional airway and nutritional procedures and more likely to discharge to home.

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Trigeminal nerve electrophysiological findings in hemifacial atrophy: A systematic literature review and retrospective chart review

Clinical Neurophysiology Practice ◽

10.1016/j.cnp.2020.12.003 ◽

2021 ◽

Vol 6 ◽

pp. 50-55

Author(s):

Michael P. Skolka ◽

Lisa A. Marks ◽

Lyell K. Jones ◽

Megha M. Tollefson ◽

Jonathan H. Smith

Keyword(s):

Literature Review ◽

Trigeminal Nerve ◽

Systematic Literature Review ◽

Chart Review ◽

Retrospective Chart Review ◽

Hemifacial Atrophy ◽

Electrophysiological Findings

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The Clinical Spectrum of Primary Cutaneous CD4+ Small/Medium-Sized Pleomorphic T-Cell Lymphoproliferative Disorder: An Updated Systematic Literature Review and Case Series

Dermatology ◽

10.1159/000511473 ◽

2020 ◽

Vol 237 (4) ◽

pp. 618-628

Author(s):

Philip Surmanowicz ◽

Sean Doherty ◽

Arunima Sivanand ◽

Nikoo Parvinnejad ◽

Jean Deschenes ◽

...

Keyword(s):

T Cell ◽

Literature Review ◽

Systematic Literature Review ◽

Lymphoproliferative Disorder ◽

Chart Review ◽

Retrospective Chart Review ◽

Cutaneous Lymphoma ◽

World Health ◽

Treatment Modalities ◽

Systemic Treatments

Background: Primary cutaneous CD4+ small/medium pleomorphic T-cell lymphoproliferative disorder (SMPLPD) is a provisional entity within the 2016 World Health Organization classification of primary cutaneous lymphomas. The condition is currently classified as a lymphoproliferative disorder to emphasize its benign course and discourage aggressive, systemic treatment modalities. Objective: To provide a relevant synthesis for the dermatological practitioner on the prevalence, presentation, and treatment of SMPLPD. Methods: We conducted an updated systematic literature review and a retrospective chart review of diagnosed cases of SMPLPD from 2 Canadian academic cutaneous lymphoma centers. Results: A total of 23 studies with 136 cases were extracted from the systematic review and 24 patients from our retrospective chart review. SMPLPD proved relatively common accounting for 12.5% of all cutaneous T-cell lymphomas encountered in our cutaneous lymphoma clinics, second in frequency only to mycosis fungoides. The typical clinical presentation was that of an older individual (median age 59 years) with an asymptomatic solitary lesion on their upper extremity. The most common clinical differentials were cutaneous lymphoid hyperplasia, basal cell carcinoma, and lymphoma unspecified. T follicular helper markers were reliably detected. The main treatment modalities were surgical excision, local radiation therapy, and topical or intralesional steroids. Cure was achieved in the vast majority of cases. Conclusions: SMPLPD is an underdiagnosed T-cell lymphoma with an overtly benign clinical course. The condition has an excellent prognosis and responds well to skin-directed therapies. Practitioners should be aware of this condition to avoid aggressive systemic treatments.

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A Case Report of Absent Epiglottis in Children with Nager Syndrome: Its Impact on Swallowing

The Cleft Palate-Craniofacial Journal ◽

10.1597/15-315 ◽

2017 ◽

Vol 54 (6) ◽

pp. 754-757 ◽

Cited By ~ 4

Author(s):

Sok Yan Tay ◽

Woei Shyang Loh ◽

Thiam Chye Lim

Keyword(s):

Case Report ◽

Literature Review ◽

Clinical Report ◽

Pierre Robin Sequence ◽

Literature Report ◽

Robin Sequence ◽

Aspiration Risk ◽

Nager Syndrome ◽

Pierre Robin

Objective This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. Conclusion The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

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Nasolacrimal duct tumours in the era of endoscopic dacryocystorhinostomy: literature review

The Journal of Laryngology & Otology ◽

10.1017/s0022215113001163 ◽

2013 ◽

Vol 127 (7) ◽

pp. 670-675 ◽

Cited By ~ 16

Author(s):

F Tanweer ◽

K Mahkamova ◽

P Harkness

Keyword(s):

Literature Review ◽

Systematic Literature Review ◽

Chart Review ◽

Case Reports ◽

Retrospective Chart Review ◽

Malignant Tumour ◽

Nasolacrimal Duct ◽

Solitary Fibrous Tumour ◽

Endoscopic Dacryocystorhinostomy ◽

Service Framework

AbstractBackground:Nasolacrimal duct tumours are rare and are often found inadvertently during dacryocystorhinostomy. Anecdotal case reports have been published, mostly in ophthalmology journals. Since the era of endoscopic dacryocystorhinostomy, such cases are more frequently encountered by ENT surgeons.Method:This paper reports a retrospective chart review of patients who underwent endoscopic dacryocystorhinostomy over the last 10 years in our dedicated epiphora clinic. It also provides a systematic literature review of nasolacrimal duct tumour cases published in English over the last 16 years.Results:Four of 525 endoscopic dacryocystorhinostomy procedures exposed a tumour (inverted papilloma, oncocytoma, lymphoma and solitary fibrous tumour). The literature review revealed 118 published case reports. Papilloma was the most frequently reported benign tumour and lymphoma was the most common malignant tumour.Conclusion:Since the advent of endoscopic dacryocystorhinostomy, tumours are being diagnosed relatively early when smaller in size. Because of the rarity of this condition, it is advisable that such cases are managed through a dedicated epiphora service framework.

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