Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort

PURPOSE: Multiple synostoses syndrome (MSS) is a rare genetic condition. Classical features consist of joint fusions which notably start at the distal phalanx of the hands and feet with symphalangism progressing proximally to carpal, tarsal, radio-ulnar, and radio-humeral joints, as well as the spine. Usually, genetic testing reveals a mutation of the NOG gene with variable expressivity. The goal was to present the anatomical, functional, and radiological presentations of MSS in a series of patients followed since childhood. METHODS: Patients with more than 3 synostoses affecting at least one hand joint were included. When possible, genetic screening was offered. RESULTS: A retrospective study was performed from 1972 to 2017 and included 14 patients with a mean follow-up of 18.6 years. Mutation of the NOG protein coding gene was seen in 3 patients. All presented with tarsal synostoses including 9 carpal, 7 elbow, and 2 vertebral fusions. Facial dysmorphia was seen in 6 patients and 3 were hearing-impaired. Surgical treatment of tarsal synostosis was performed in 4 patients. Progressing joint fusions were invariably seen on x-rays amongst adults. CONCLUSION: Long radiological follow-up allowed the assessment of MSS progression. Feet deformities resulted in a severe impact on quality of life, and neurological complications secondary to spine fusions warranted performing at least one imaging study in childhood. As there is no treatment of ankylosis, physiotherapy is not recommended. However, surgical arthrodesis for the treatment of pain may have reasonable outcomes.

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Long-term follow-up of patients with anti-cyclic citrullinated peptide antibody-positive connective tissue disease: a retrospective observational study including information on the HLA-DRB1 allele and citrullination dependency

Arthritis Research & Therapy ◽

10.1186/s13075-020-02351-4 ◽

2020 ◽

Vol 22 (1) ◽

Author(s):

Takeshi Iwasaki ◽

Shuichiro Nakabo ◽

Chikashi Terao ◽

Kosaku Murakami ◽

Ran Nakashima ◽

...

Keyword(s):

Connective Tissue ◽

Connective Tissue Disease ◽

X Rays ◽

Bone Erosions ◽

Cyclic Citrullinated Peptide ◽

Drb1 Allele ◽

Antibody Titers ◽

Hands And Feet ◽

Citrullinated Peptide

Abstract Background The anti-cyclic citrullinated peptide (CCP) antibody is a diagnostic biomarker of rheumatoid arthritis (RA). However, some non-RA connective tissue disease (CTD) patients also test positive for the anti-CCP antibody and, thus, may ultimately develop RA. We retrospectively investigated whether anti-CCP-positive non-RA CTD patients developed RA and attempted to identify factors that may differentiate RA-overlapping CTD from pure CTD. Methods In total, 842 CTD patients with a primary diagnosis that was not RA were selected from our CTD database as of December 2012. Anti-CCP antibody titers were obtained from a retrospective chart review or measured using stored sera. RA was diagnosed according to the 1987 revised American College of Rheumatology classification criteria. Thirty-three anti-CCP-positive non-RA CTD patients were retrospectively followed up for the development of RA. Bone erosions on the hands and feet were assessed by X-ray. Citrullination dependency was evaluated by an in-house ELISA, the HLA-DRB1 allele was typed, and the results obtained were then compared between RA-overlapping and non-RA anti-CCP-positive CTD patients. Results Two out of 33 anti-CCP-positive CTD patients (6.1%) developed RA during a mean follow-up period of 8.9 years. X-rays were examined in 27 out of the 33 patients, and only one (3.7%) showed bone erosions. The frequency of the HLA-DRB1 shared epitope (SE) and anti-CCP antibody titers were both significantly higher in anti-CCP-positive RA-overlapping CTD patients than in anti-CCP-positive non-RA CTD patients, while no significant differences were observed in citrullination dependency. Conclusions Anti-CCP-positive non-RA CTD patients rarely developed RA. HLA-DRB1 SE and anti-CCP antibody titers may facilitate the differentiation of RA-overlapping CTD from anti-CCP-positive non-RA CTD.

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Reduction of paclitaxel neuropathy with cryotherapy.

Journal of Clinical Oncology ◽

10.1200/jco.2016.34.3_suppl.124 ◽

2016 ◽

Vol 34 (3_suppl) ◽

pp. 124-124 ◽

Cited By ~ 1

Author(s):

Mary Wilkinson ◽

Costanza Cocilovo ◽

Hernan I. Vargas ◽

Robert Alan Cohen ◽

Sara Bruce ◽

...

Keyword(s):

Peripheral Neuropathy ◽

Sensory Neuropathy ◽

Primary Objective ◽

Weekly Paclitaxel ◽

Breast Cancer Patients ◽

Cold Intolerance ◽

Before And After ◽

Hands And Feet

124 Background: Chemotherapy induced peripheral neuropathy (CIPN) is a common and potentially debilitating side effect of taxanes. Prior studies indicate weekly paclitaxel results in grade 2 or higher neuropathy in 25% of patients. Patients may experience persistent pain that impacts quality of life. Currently, there is little data that exists on effective therapies for prevention of paclitaxel neuropathy. This study investigates the efficacy and safety of cryotherapy for the prevention of paclitaxel-induced peripheral neuropathy. Methods: This is a single arm, phase II study of the effects of cryotherapy for breast cancer patients undergoing 12 cycles of weekly paclitaxel. Cryotherapy was administered by hypothermia mitts and slippers to patients’ hands and feet during, and 15 minutes before and after paclitaxel treatments. Neurologic assessments and neuropathy questionnaires were evaluated at baseline, every 4 cycles during treatment, and every 6 months follow up for two years. The primary objective is to assess if cryotherapy can decrease the rate of peripheral neuropathy. The primary efficacy endpoint is the rate of neuropathy in patients undergoing weekly paclitaxel treatments. Results: Between November 2014 and June 2015, 41 patients were enrolled in the study. Of 39 evaluable patients, 19 (48.7%) were without neurologic toxicity. 19 (48.7%) had grade 1 toxicity, paresthesia but without pain. Only one patient (2.6%) had grade 2 toxicity. Cryotherapy treatment was well tolerated; one patient could not participate due to cold intolerance. Conclusions: Cryotherapy reduced the incidence of pain and grade 2 or higher sensory neuropathy in patients receiving weekly paclitaxel. Clinical trial information: NCT02230319. [Table: see text]

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Predictors of prostate cancer-specific anxiety following stereotactic body radiation therapy (SBRT) for clinically localized prostate cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.7_suppl.64 ◽

2019 ◽

Vol 37 (7_suppl) ◽

pp. 64-64

Author(s):

Kamran Salari ◽

Nima Aghdam ◽

Luara Gersony ◽

Malika Danner ◽

Marilyn Ayoob ◽

...

Keyword(s):

Prostate Cancer ◽

Stereotactic Body Radiation Therapy ◽

Median Score ◽

Single Institution ◽

Risk Patients ◽

Caucasian Patients ◽

Risk Grouping ◽

Disease Specific

64 Background: Prostate Cancer (PCa) related anxiety varies widely based on management option. SBRT offers a safe and effective treatment for localized PCa. However, there is a paucity of data regarding PCa specific anxiety following SBRT and its relationship with PSA kinetics. In this report we present the results of a mail-in survey conducted amongst the participants of our prospective institutional quality of life (QOL) trial and identify sociodemographic and disease specific predictors of anxiety. Methods: Patients with localized PCa treated with SBRT at a single institution from 2007-2018 were eligible for inclusion in this study. The Memorial Anxiety Scale for PCa (MAX-PC) survey, was mailed to 450 patients on July of 2018. Patient’s total MAX-PC score (scale 0-54) was recorded. A score of ≥ 27 was defined as significant anxiety. Disease specific as well as demographic features were analyzed for possible correlation with self-reported anxiety. Results: By August 31, 2018, 227 patients had responded to the survey . The median score at all time points was 5 (1-41). Stratified by risk grouping; Low, Intermediate, and High Risk patients’ median scores were 7, 4.5 and 6. Six patients had a MAX-PC score≥27. Patients who were at least 2 years out from SBRT treatment had lower mean MAX-PC scores than those who were still within 2 years (6.3 versus 8.1, p = 0.045). Stratified by age, patients > 80 years old had a median score of 2 versus those < 70 with a median score of 6. Caucasian patients had lower mean MAX-PC scores than non-Caucasian patients (6.6 versus 9.1, p = 0.021). Patients who had at least a 0.5 ng/mL increase in PSA in their last 3 measurements had higher mean MAX-PC scores than those who did not (13.0 versus 7.0, p = 0.040). Conclusions: Patients with clinically localized PCa treated with SBRT experience minimal PCa specific anxiety. Anxiety surrounding PCa decreases with time. Non-Caucasian patients tended to have more anxiety than Caucasian patients. Patients who had recent PSA bounces tend to have higher levels of anxiety about their disease. Further follow-up of these patients over time would aid in assessing the progression of PCa specific anxiety as their lives progress.

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Neurological complications of breast cancer: study protocol of a prospective cohort study

BMJ Open ◽

10.1136/bmjopen-2014-006301 ◽

2014 ◽

Vol 4 (10) ◽

pp. e006301 ◽

Cited By ~ 17

Author(s):

Susana Pereira ◽

Filipa Fontes ◽

Teresa Sonin ◽

Teresa Dias ◽

Maria Fragoso ◽

...

Keyword(s):

Breast Cancer ◽

Quality Of Life ◽

Neuropathic Pain ◽

Cohort Study ◽

Peripheral Neuropathy ◽

Prospective Cohort Study ◽

Prospective Cohort ◽

Neurological Complications

IntroductionThe improvement in breast cancer survival rates, along with the expected overdiagnosis and overtreatment associated with breast cancer screening, requires a comprehensive assessment of its burden. Neurological complications can have a devastating impact on these patients; neuropathic pain and chemotherapy-induced peripheral neuropathy are among the most frequently reported. This project aims to understand the burden of neurological complications of breast cancer treatment in Northern Portugal, and their role as mediator of the impact of the treatment in different dimensions of the patients’ quality of life.Methods and analysisA prospective cohort study was designed to include 500 patients with breast cancer, to be followed for 3 years. The patients were recruited at the Portuguese Oncology Institute of Porto and evaluations were planned at different stages: pretreatment, after surgery, after chemotherapy (whenever applicable) and at 1 and 3 years after enrolment. Patients diagnosed with neuropathic pain or chemotherapy-induced peripheral neuropathy (subcohorts), were also evaluated at the moment of confirmation of clinical diagnosis of the neurological complication and 6 months later. In each of the follow-up periods, a neurological examination has been performed by a neurologist. Data were collected on sociodemographic and clinical characteristics, quality of life, sleep quality, and anxiety and depression. Between January and December 2012, we recruited and conducted the baseline evaluation of 506 participants. The end of the follow-up period is scheduled for December 2015.Ethics and disseminationThe study protocol was approved by the Ethics Committee of the Portuguese Oncology Institute of Porto and all patients provided written informed consent. All study procedures were developed in order to assure data protection and confidentiality. Results from this project will be disseminated in international peer-reviewed journals and presented in relevant conferences.

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Six-Month Freedom From Amputation Rates and Quality of Life Following Tibial and Pedal Endovascular Revascularization for Critical Limb Ischemia

Vascular and Endovascular Surgery ◽

10.1177/1538574418823378 ◽

2019 ◽

Vol 53 (3) ◽

pp. 212-215 ◽

Cited By ~ 1

Author(s):

Anahita Dua ◽

Kara A. Rothenberg ◽

Jisun J. Lee ◽

Rebecca Gologorsky ◽

Sapan S. Desai

Keyword(s):

Quality Of Life ◽

Critical Limb Ischemia ◽

Limb Ischemia ◽

Major Amputation ◽

Technical Success ◽

Single Institution ◽

Disease Pattern ◽

Angioplasty And Stenting

Objective: Patients with critical limb ischemia (CLI) and gangrene have a 10% to 38% rate of major amputation at 6 months. The purpose of this study is to report short- and mid-term major and minor amputation rates for patients who underwent tibial and pedal revascularization in addition to quality-of-life (QoL) scores. Methods: All patients who presented to a single institution with CLI (defined as rest pain or nonhealing wounds) and underwent antegrade or retrograde tibial access, atherectomy and angioplasty of the tibial circulation, and angioplasty of pedal circulation (antegrade or retrograde) from June 2016 to September 2017 were included. The Stark QoL questionnaire was used at each visit. Patients were scored at 1, 3, and 6 months postprocedure. Amputation rates were recorded. Results: Forty-two patients with CLI and gangrene underwent 57 peripheral interventions for limb salvage between June 2016 and September 2017. Thirty-two limbs had dry gangrene along the dorsalis pedis angiosome, 14 limbs had dry gangrene along the posterior tibial angiogram, and 11 limbs had a combined disease pattern. Twelve limbs underwent angioplasty of the superficial femoral artery (SFA), 18 limbs underwent angioplasty and stenting of the SFA, and 14 limbs underwent atherectomy, angioplasty, and stenting of the SFA. All patients had 1 or 2 tibial vessel runoff and high-grade stenosis of the pedal circulation. Immediate technical success defined as 3-vessel outflow to the foot occurred in 49 limbs (86%) with zero 30-day complications (30-day readmission, major amputation, or sepsis). Major amputation rate at 1, 3, and 6 months was 0%, 2%, and 4%, respectively. Patient satisfaction in terms of QoL increased over the 6-month follow-up period. Conclusion: Aggressive tibial and pedal revascularization may improve freedom from minor and major amputation at 6 months and may be associated with a short- and mid-term higher QoL.

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Minicraniotomy versus bur holes for evacuation of chronic subdural collections in infants—a preliminary single-institution experience

Journal of Neurosurgery Pediatrics ◽

10.3171/2011.8.peds1131 ◽

2011 ◽

Vol 8 (5) ◽

pp. 423-429 ◽

Cited By ~ 8

Author(s):

Paul Klimo ◽

Anne Matthews ◽

Sean M. Lew ◽

Marike Zwienenberg-Lee ◽

Bruce A. Kaufman

Keyword(s):

Treatment Failure ◽

Imaging Study ◽

Late Complications ◽

Single Institution ◽

Radiographic Findings ◽

Surgical Interventions ◽

Subdural Drain ◽

The Many

Object Various surgical interventions have been described to evacuate chronic subdural collections (CSCs) of infancy. These include transfontanel percutaneous aspiration, subdural drains, placement of bur hole(s) with or without a subdural drain, and shunting. Shunt placement typically provides good long-term success (resolution of the subdural fluid), but comes with well-known early and late complications. Recently, the authors have used a mini–osteoplastic craniotomy technique with the goal of definitively treating these children with a single surgery while avoiding the many issues associated with a shunt. They describe their procedure and compare it with the traditional bur hole technique. Methods In this single-institution retrospective study, the authors evaluated 26 cases involving patients who underwent treatment for CSC. Preoperative, intraoperative, and postoperative data were reviewed, including radiographic findings (density of the subdural fluid and ventricular and subarachnoid space size), neurological examination findings, and intraoperative fluid description. The primary outcome was treatment failure, defined as the patient requiring any subsequent surgical intervention after the index procedure (minicraniotomy or bur hole placement). Results Fifteen patients (10 male and 5 female; median age 5.1 months) collectively underwent 27 minicraniotomy procedures (each procedure representing a hemisphere that was treated). In the bur hole group, there were 11 patients (6 male and 5 female; median age 4.6 months) with 18 hemispheres treated. Both groups had subdural drains placed. The average follow-up for each treatment group was just over 7 months. Treatment failure occurred in 2 patients (13%) in the minicraniotomy group compared with 5 patients (45%) in the bur hole group (p = 0.09). Furthermore, the 2 patients who had treatment failure in the minicraniotomy group required 1 subsequent surgery each, whereas the 5 in the bur hole group needed a total of 9 subsequent surgeries. Eventually, 80% of the patients in the minicraniotomy group and 70% of those in the bur hole group had resolution of the subdural collections on the last imaging study. Conclusions The minicraniotomy technique may be a superior technique for the treatment of CSCs in infants compared with bur hole evacuation. The minicraniotomy provides greater visualization of the subdural space and allows more aggressive evacuation of the fluid, better irrigation of the space, the ability to fenestrate any accessible membranes safely, and continued egress of fluid into the subgaleal space. Although this preliminary report has obvious limitations, evaluation of this technique may be worthy of a prospective, multiinstitutional collaborative effort.

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Endoscopic Septoplasty Versus Traditional Septoplasty for Treating Deviated Nasal Septum: A Prospective, Randomized Controlled Trial

Ear Nose & Throat Journal ◽

10.1177/0145561320918982 ◽

2020 ◽

pp. 014556132091898

Author(s):

Shorook Na’ara ◽

Boris Kaptzan ◽

Ziv Gil ◽

Dimitry Ostrovsky

Keyword(s):

Quality Of Life ◽

Nasal Septum ◽

Controlled Trial ◽

Single Institution ◽

Deviated Nasal Septum ◽

Endoscopic Septoplasty ◽

Randomized Controlled ◽

Prospective Randomized Controlled Trial

Importance: This is the first randomized study to compare the quality of life of patients undergoing endoscopic septoplasty compared to traditional trans-nasal trans-speculum (TNTS) septoplasty. Objective: To assess the clinical outcomes and quality of life results of endoscopic versus TNTS septoplasty in patients with septal deviation and nasal obstruction. Design: A prospective, randomized controlled trial comparing 2 approaches of septoplasty: endoscopic and TNTS septoplasty performed in a single institution during the years 2016 to2017. The follow-up time was 3 months. Setting: A single institution study in a tertiary health-care referral center. Participants: Patients who underwent primary surgery for repairing deviated nasal septum due to nasal obstruction, were older than 18 years old, and were eligible for study inclusion. Sixty-five patients were enrolled in this study, 34 in the endoscopic arm and 31 in the TNTS septoplasty arm. The overall follow-up rate was 94% at the first visit (2 weeks) and 92% at the last visit (12 weeks). Thus, the final cohort consisted of 60 patients, 30 in each study arm. The patients ranged in age from 18 to 71 years (mean 27 years) old. Main Outcomes and Measures: The primary outcome was the Sino-Nasal Outcome Test-22 (SNOT-22) score. Secondary outcomes were the Short Form 36 (SF36) QOL score and complication rates. Both questionnaires were administered at 2 weeks and 3 months following surgery. Results: Sixty patients completed this study, 30 in each study arm. Sino-Nasal Outcome Test-22 scores were improved after 3 months, with no difference between the study arms. There were no cases of septal perforation or profound bleeding requiring repeated surgery. Conclusions and Relevance: Endoscopic septoplasty and TNTS show similar results for treatment of nasal septum deviation. Trial Registration: Traditional Septoplasty versus Endoscopic Septoplasty for Treating Deviated Nasal Septum, NCT02653950. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S0005ZOR&selectaction=Edit&uid=U00021YC&ts=2&cx=-2w7hot .

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Stereotactic radiotherapy (SRT) in oligometastatic (OM) colorectal cancer (CRC): Can we improve systemic therapy (ST) free interval?

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.4_suppl.154 ◽

2020 ◽

Vol 38 (4_suppl) ◽

pp. 154-154 ◽

Cited By ~ 1

Author(s):

Daniel Moore Freitas Palhares ◽

Renata Reis Figueiredo ◽

Katia Regina Marchetti ◽

Allan Andresson Lima Pereira ◽

Marcela Alves Teixeira ◽

...

Keyword(s):

Colorectal Cancer ◽

Target Therapy ◽

Local Treatment ◽

Progression Free Survival ◽

Common Disease ◽

Single Institution ◽

Free Survival ◽

Free Interval

154 Background: Metastatic colorectal cancer is common disease that is treated mainly with systemic chemotherapy with or without target therapy combined with local therapies when feasible. Patients with OM-CRC may benefit from local treatments, classically surgery, but more recently SRT is also showing to be effective. We aimed to access the benefit of SRT in patients (pts) with OM-CRC that where not candidates for surgery. Methods: This retrospective study evaluated all the pts with CRC from a single institution that did SRT for OM-CRC. SRT was done with 3D or IMRT/VMAT planning and daily volumetric image. 1-10 fractions were delivered aiming to keep BED > 100Gy10. Dose was decreased as necessary to respect the constraints and minimize toxicity. Progression free survival (PFS) was analyzed from SRT to first progression or death, ST-free survival (STFS) from SRT to the beginning on next ST line or death. Results: We evaluated 32 consecutive pts from Sep/2014 to Jul/2019. Forty-six courses of SRT where performed. Mean age was 56 ± 13y, 60% female and 65% had colon cancer. 52% had metastatic disease after radical treatment. 63% were off ST by the time of the SRT. SRT treatment sites were lung and liver in 28%, bones and lymph nodes 13%, and CNS 11%. 72% of pts had only 1 treated lesion and 70% did 1 SRT course. Most commonly used regimens were 3 x 10-18Gy (35%), 4 x 10-12Gy (15%) and 5 x 7-10Gy (22%). 37% of treatments had BED≥100Gy10 and 78% were done with IMRT/VMAT. With a median follow-up of 16.1m (IQR 8.2-32.7), the median PFS was 5.4m (95% CI 4.1-11.0) and STFS was 12.7m (95% CI 0.8-24.5). Patients with multiple SRT courses had longer interval between disease progression and starting the next ST line (median 2.2 vs 12.4m). Pts that where on ST holidays before SRT had higher STFS (HR = 0.24 95% CI 0.1-0.6, p = 0.001) probably due to selection bias (lower disease volume). The 3y OS was 71%, median was not reached. Conclusions: Local treatment with SRT for OM-CRC showed to be feasible and safe with promising PFS and OS that deserves further investigation. The median STFS superior to a year suggests that SRT can influence OM-CRC treatment positively, possible impacting quality of life and even treatment costs.

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