Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

Dermatology ◽  
2013 ◽  
Vol 226 (4) ◽  
pp. 353-357 ◽  
Author(s):  
M. Fradin ◽  
C. Merklen-Djafri ◽  
C. Perrigouard ◽  
B. Aral ◽  
J. Muller ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Spectrum Disorder ◽  
Mutation Spectrum ◽  
Long Term Follow Up

Post-Operative Dysphagia in Anterior Cervical Discectomy and Fusion

2021 ◽  
pp. 000348942110155
Author(s):  
Leonard Haller ◽  
Khush Mehul Kharidia ◽  
Caitlin Bertelsen ◽  
Jeffrey Wang ◽  
Karla O’Dell
Keyword(s):  
Risk Factors ◽  
Medical Records ◽  
Assessment Tool ◽  
Demographic Data ◽  
Anterior Cervical Discectomy ◽  
Cervical Discectomy ◽  
Long Term Follow Up

Objective: We sought to identify risk factors associated with long-term dysphagia, characterize changes in dysphagia over time, and evaluate the incidence of otolaryngology referrals for patients with long-term dysphagia following anterior cervical discectomy with fusion (ACDF). Methods: About 56 patients who underwent ACDF between May 2017 to February 2019 were included in the study. All patients were assessed for dysphagia using the Eating Assessment Tool (EAT-10) survey preoperatively and late postoperatively (≥1 year). Additionally, 28 patients were assessed for dysphagia early postoperatively (2 weeks—3 months). Demographic data, medical comorbidities, intraoperative details, and post-operative otolaryngology referral rates were collected from electronic medical records. Results: Of the 56 patients enrolled, 21 patients (38%) had EAT-10 scores of 3 or more at long-term follow-up. None of the demographics, comorbidities, or surgical factors assessed were associated with long-term dysphagia. Patients who reported no long-term dysphagia had a mean EAT-10 score of 6.9 early postoperatively, while patients with long-term symptoms had a mean score of 18.1 ( P = .006). Of the 21 patients who reported persistent dysphagia symptoms, 3 (14%) received dysphagia testing or otolaryngology referrals post-operatively. Conclusion: Dysphagia is a notable side effect of ACDF surgery, but there are no significant demographics, comorbidities, or surgical risk factors that predict long-term dysphagia. Early postoperative characterization of dysphagia using the EAT-10 questionnaire can help predict long-term symptoms. There is inadequate screening and otolaryngology follow-up for patients with post-ACDF dysphagia.

Primary Pulmonary Pleomorphic Adenoma

2003 ◽  
Vol 127 (5) ◽  
pp. 621-622
Author(s):  
Keng Leong Ang ◽  
Venkata Ramana Dhannapuneni ◽  
William Ellis Morgan ◽  
Irshad Nabi Soomro
Keyword(s):  
Pleomorphic Adenoma ◽  
Regulatory Gene ◽  
Proliferation Index ◽  
Complete Excision ◽  
Long Term Follow Up ◽  
Uncommon Condition ◽  
P16 Ink4a

Abstract Primary pleomorphic adenoma of the lung is an uncommon condition. We present a case of primary pulmonary pleomorphic adenoma and its immunohistologic features. The presence of immunoreactivity to both anticytokeratin and antivimentin antibodies for its epithelial components is suggestive of a primary pulmonary lesion. Its high proliferation index and its immunoreactivity to tumor regulatory gene p16(INK4A) are features that, to our knowledge, have not been reported previously. They may have a role in the frequent recurrence of these tumors many years after their apparently complete excision. Detailed genetic investigation and long-term follow-up of this rare tumor will aid in the characterization of its biologic profile.

scholarly journals Long-term follow up of feline leukemia virus infection and characterization of viral RNA loads using molecular methods in tissues of cats with different infection outcomes

2015 ◽  
Vol 197 ◽  
pp. 137-150 ◽  
Author(s):  
A. Katrin Helfer-Hungerbuehler ◽  
Stefan Widmer ◽  
Yvonne Kessler ◽  
Barbara Riond ◽  
Felicitas S. Boretti ◽  
...  
Keyword(s):  
Virus Infection ◽  
Leukemia Virus ◽  
Molecular Methods ◽  
Viral Rna ◽  
Feline Leukemia Virus ◽  
Long Term Follow Up

In vitro characterization of commercial factor VIII concentrates: Long-term follow-up

1984 ◽  
Vol 49 (1) ◽  
pp. 53-59 ◽  
Author(s):  
C. Miyashita ◽  
P. Hellstern ◽  
M. K�hler ◽  
G. Blohn ◽  
E. Wenzel
Keyword(s):  
Factor Viii ◽  
In Vitro Characterization ◽  
Long Term Follow Up ◽  
Factor Viii Concentrates

Characterization of the “one-pad patient” at long-term follow-up after radical prostatectomy

2017 ◽  
Vol 16 (3) ◽  
pp. e1890
Author(s):  
B. Löppenberg ◽  
G. Müller ◽  
P. Bach ◽  
C. Von Bodman ◽  
M. Brock ◽  
...  
Keyword(s):  
Radical Prostatectomy ◽  
Long Term Follow Up ◽  
The One

scholarly journals MP82-10 CHARACTERIZATION OF THE “ONE-PAD PATIENT” AT LONG-TERM FOLLOW-UP AFTER RADICAL PROSTATECTOMY

2017 ◽  
Vol 197 (4S) ◽  
Author(s):  
Björn Löppenberg ◽  
Guido Müller ◽  
Peter Bach ◽  
Christian von Bodman ◽  
Marko Brock ◽  
...  
Keyword(s):  
Radical Prostatectomy ◽  
Long Term Follow Up ◽  
The One

Hereditary hypophosphatemic rickets and craniosynostosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
María Alejandra Arenas ◽  
Sebastián Jaimovich ◽  
Natalia Perez Garrido ◽  
Mariana del Pino ◽  
Gisela Viterbo ◽  
...  
Keyword(s):  
Chiari I Malformation ◽  
Hypophosphatemic Rickets ◽  
Clinical Notes ◽  
Long Term Follow Up ◽  
Phex Gene ◽  
Chiari I ◽  
Normal Head

Abstract Background Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis. Methods and patients An observational and retrospective cohort study was conducted. Clinical notes and cranial images were reviewed. Out of 96 children, only the 50 patients who had skull images were included. Results Out of 50 patients, 26 (15 males) had craniosynostosis (52%). No differences were observed in birth size, age, height, body proportions, alkaline phosphatase, serum phosphate, or percent tubular reabsorption of phosphate at first appointment among children with or without craniosynostosis. Among patients with craniosynostosis, dolichocephaly was prevalent. The sagittal suture was affected in all patients with craniosynostosis, with 19 of 26 children (73%) affected with isolated scaphocephaly. Pan-sutural craniosynostosis was present in 7 children (27%). None of the children had microcephaly, 7 of them presented macrocephaly and, in the remaining subjects, head circumference was normal. Five patients had undergone at least 1 cranial remodeling surgery. One patient with craniosynostosis was diagnosed with a Chiari I malformation. Molecular characterization of PHEX gene was performed in 14 cases. Conclusions Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Many patients with normal head size and growth may go undiagnosed, thus it is important to consider this association for early diagnosis and possible surgical treatment. A multidisciplinary approach is necessary for a correct long-term follow-up.

Phenotypic Characterization of Corneal Epithelium in Patients With Long-term Follow-up Who Underwent Autologous Cultivated Oral Mucosal Epithelial Transplantation

Cornea ◽  
2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Pinnita Prabhasawat ◽  
Chareenun Chirapapaisan ◽  
Anuwat Jiravarnsirikul ◽  
Pattama Ekpo ◽  
Mongkol Uiprasertkul ◽  
...  
Keyword(s):  
Corneal Epithelium ◽  
Phenotypic Characterization ◽  
Long Term Follow Up

scholarly journals Characterization of Chest Wall Toxicity During Long-term Follow Up After Thoracic Stereotactic Body Radiation Therapy

2019 ◽  
Vol 9 (3) ◽  
pp. e338-e346 ◽  
Author(s):  
Christopher Chipko ◽  
Julius Ojwang ◽  
Leila Rezai Gharai ◽  
Xiaoyan Deng ◽  
Nitai Mukhopadhyay ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Chest Wall ◽  
Stereotactic Body Radiation Therapy ◽  
Stereotactic Body Radiation ◽  
Long Term Follow Up
Sign in / Sign up

Export Citation Format

Share Document