PTEN hamartoma tumour syndrome: early tumour development in children

2014 ◽  
Vol 100 (1) ◽  
pp. 34-37 ◽  
Author(s):  
Patroula Smpokou ◽  
Victor L Fox ◽  
Wen-Hann Tan
Keyword(s):  
Renal Cell Carcinoma ◽  
Medical Records ◽  
Thyroid Nodules ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Granulosa Cell Tumour ◽  
Tumour Development ◽  
Age Of Diagnosis ◽  
The Mean

ObjectiveThe aim of this study was to report the earliest age of diagnosis of common clinical findings in children with PTEN hamartoma tumour syndrome (PHTS).DesignMedical records of children with PHTS were reviewed; data included growth measurements, presence or absence of specific clinical manifestations and tumours, and documented ages of diagnosis.SettingChildren with PHTS evaluated at Boston Children's Hospital from 1996 to 2011.PatientsThe cohort included 34 children diagnosed with PHTS via genetic testing, under the age of 21 years. Of these, 23 were male and 11 female. The mean age at their last documented clinical evaluation was 13.6 years. The mean follow-up time was 7.5 years.ResultsMacrocephaly and developmental/intellectual disability were consistent findings. Pigmented penile macules were noted in all males examined for this finding. Thyroid nodules, found in half the children screened with ultrasound, were diagnosed as early as at 5 years of age. Thyroid carcinoma, identified in 12% of the children in this cohort, was diagnosed as early as at 7 years of age. Other tumours included renal cell carcinoma diagnosed at 11 years of age and granulosa cell tumour of the ovary and colonic ganglioneuroma, each diagnosed at 16 years of age.ConclusionsSpecific clinical findings and tumours are characteristic in children with PHTS. Tumour development occurs in young children with this condition, which necessitates early surveillance, especially of the thyroid.

scholarly journals Clinical Characteristics of Intermittent Esotropia

2021 ◽  
Vol 62 (12) ◽  
pp. 1650-1656
Author(s):  
Young Chae Yoon ◽  
Nam Yeo Kang
Keyword(s):  
Medical Records ◽  
Clinical Characteristics ◽  
Age At Onset ◽  
Clinical Findings ◽  
Main Symptom ◽  
Angle Of Deviation ◽  
The Mean ◽  
Onset Angle ◽  
Dissociated Vertical Deviation

Purpose: To evaluate clinical findings and surgical outcomes of intermittent esotropia.Methods: We retrospectively reviewed the medical records of 23 patients (aged 9-42 years) who presented with intermittent esotropia between January 2007 and December 2020. We analyzed the age at onset, angle of deviation, presence of symptomatic diplopia, fusional state, near stereoacuity, and surgical results.Results: The mean age at onset was 19.9 ± 8.0 years and mean duration of esodeviation was 23.4 ± 27.1 months. Mean follow-up time was 13.0 ± 15.6 months. All patients except three had symptomatic diplopia, and 78.3% showed intermittent diplopia. Mean angles of deviation were 21.6 ± 10.3 prism diopters (PD) at distance and 20.2 ± 10.4 PD at near. Twenty-one patients (91.3%) were myopia. No patients had amblyopia and one had dissociated vertical deviation. On Worth’s four-dot test, five patients (21.7%) showed diplopia and four showed suppression at both distance and near. The other patients showed fusion at near or distance. Eleven patients underwent surgical correction. At the final examination, all patients achieved successful motor alignment and fusion with resolution of diplopia. Only two patients (18.2%) achieved normal 60 arcsec stereopsis, and six attained subnormal stereopsis.Conclusions: The main symptom of intermittent esotropia was diplopia. Surgical treatment was effective in achieving good postoperative motor alignment and fusion. However, successful motor alignment did not guarantee recovery of fine stereopsis.

scholarly journals Clinical and Paraclinical Features of Wilson’s Disease in Children in Shiraz, Southern Iran

2014 ◽  
Vol 3 (3) ◽  
pp. 160-66
Author(s):  
Seyed Mohsen Dehghani ◽  
Asma Erjaee ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
Zohre Bajalli ◽  
...  
Keyword(s):  
Medical Records ◽  
Autosomal Recessive ◽  
Clinical Findings ◽  
Medical Sciences ◽  
Progressive Degeneration ◽  
Urinary Copper ◽  
The Mean ◽  
High Index Of Suspicion ◽  
Biochemical Abnormalities

Background: Wilson disease (WD) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. WD is fatal if left untreated. The aim of the current study was to evaluate the clinical and Para-clinical findings in children with WD in Shiraz, Southern Iran.Patients and Methods: The Medical records of all children less than 18 years of age with definite diagnosis of WD, who were admitted in Nemazee Teaching Hospital from 2001 to 2009, or were under follow up at the Pediatric Hepatology Clinic affiliated to Shiraz University of Medical Sciences, were reviewed.Results: Overall, 70 patients with WD (41 males, 29 females) were studied. The mean age at the onset of diagnosis was 10.3±3.2 years and the most common first presentation in our patients was hepatic (90%). The most common biochemical abnormalities were increased urinary copper content, increased liver enzymes (92.9%), and increased prothrombin time (71.4%). Wilson index was ≥11 in 44.3% of the patients.Conclusion: WD is a rare and fascinating disorder that often poses a diagnostic and therapeutic challenge for the physician. Maintaining a high index of suspicion is critical in diagnosing this readily treatable disease and early treatment can decrease its mortality rate.

A systematic review of the characteristics of thyroid metastases from clear cell renal cell carcinoma.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e16113-e16113
Author(s):  
Karam Khaddour ◽  
Nadiia Marenych ◽  
Jerry X. Liu ◽  
Wendy Ward ◽  
Theodora Pappa
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Thyroid Nodules ◽  
Clear Cell ◽  
Lag Time ◽  
Thyroid Metastasis ◽  
Cell Renal Cell Carcinoma ◽  
The Mean

e16113 Background: Thyroid gland is an uncommon site for metastases from clear cell renal cell carcinoma (CCRCC) and literature is scarce. Due to the variable and often long lag time before development of metastases in patients with CCRCC, thyroid nodules may be misdiagnosed initially as benign. This systematic review aims at a better understanding of the nature of these metastases. Methods: A bibliographic search was performed using PubMed (1990-2019), key words being “renal cell carcinoma, thyroid, kidney cancer, clear cell.” 147 cases were analyzed. The patient’s characteristics assessed were: age, sex, stage, size of metastases, lag time, diagnostic modality, initial symptoms, treatment and outcome in last documented follow up. Binary logistic regression, spearman and ANOVA were performed to identify differences between the existing variables. Results: The mean age (±SE) was 64± (10) years in males and 64 (±11) in females. The mean lag time to diagnosis of thyroid metastasis was 8.7 (±6.3) years. Gender distribution of the patients was 46.3% male, 52.4% female. There was a weak correlation between lag time and size of metastases, not statistically significant. Size of metastases was significantly higher in symptomatic patients (6.06±3.51cm) compared to those with painless mass (4.6±0.29cm) and asymptomatic ones (3.93±1.99cm) (p = 0.03). Fine Needle Aspiration (FNA) was diagnostic in 29.4% of cases, 47.1% were non diagnostic. Most patients (80.3%) underwent thyroid surgery. At 1 year follow up, 55.6% of patients operated were alive versus 35.3% who did not have surgery, though this was not statistically significant (p = 0.1). Conclusions: A larger size of thyroid metastasis was more likely to present with symptomatology. A high index of suspicion is warranted when evaluating thyroid nodules in CCRCC patients. There was no significant difference in outcome between patients who underwent surgery and those who did not. With the wider use of immune check-point and tyrosine kinase inhibitors in metastatic CCRCC, surgery may eventually be reserved only for palliative purposes.

scholarly journals A New Multiplatform Model for Outpatient Prenatal and Postpartum Care in a Cohort of COVID-19-Affected Obstetric Patients

2021 ◽  
Vol 18 (10) ◽  
pp. 5144
Author(s):  
Mar Muñoz-Chápuli Gutiérrez ◽  
Ana Durán-Vila ◽  
Javier Ruiz-Labarta ◽  
Pilar Payá-Martínez ◽  
Pilar Pintado Recarte ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Specific Treatment ◽  
Rt Pcr ◽  
Good Adherence ◽  
Major Morbidity ◽  
Reference Hospital ◽  
The Mean ◽  
Discharge From Hospital ◽  
Over Time

Spain was one of the epicenters of the first wave of the COVID-19 pandemic. We describe in this article the design and results of a new telephone-and-telematic multiplatform model of systematic prenatal and postpartum follow-up for COVID-19-affected women implemented in a tertiary reference hospital in Madrid. We included patients with RT-PCR-confirmed COVID-19 during pregnancy or delivery from 10 March 2020 to 15 December 2020. We had a total of 211 obstetric patients: 148 (70.1%) were tested at the onset of suspicious clinical manifestations and 62 (29.4%) were tested in the context of routine screening. Of all the patients, 60 women (28.4%) were asymptomatic and 97 (46%) presented mild symptoms. Fifty-one women (24.2%) were admitted to our hospital for specific treatment because of moderate or severe symptoms. We had no missed cases and a good adherence. The mean number of calls per patient was 2.3. We performed 55 in-person visits. We analyzed the complexity of our program over time, showing a two-wave-like pattern. One patient was identified as needing hospitalization and we did not record major morbidity. Telemedicine programs are a strong and reproducible tool to reach to pregnant population affected by COVID-19, to assess its symptoms and severity, and to record for pregnancy-related symptoms both in an outpatient regime and after discharge from hospital.

scholarly journals AB0533 ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODY (ANCA) IN GENERAL POPULATION WITHOUT ANCA ASSOCIATED VASCULITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1563.3-1563
Author(s):  
H. Tamaki ◽  
S. Fukui ◽  
T. Nakai ◽  
G. Kidoguchi ◽  
S. Kawaai ◽  
...  
Keyword(s):  
Risk Factors ◽  
Autoimmune Disease ◽  
General Population ◽  
Granulomatosis With Polyangiitis ◽  
Dietary Habits ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Anca Associated Vasculitis ◽  
The Mean

Background:Currently it is hypothesized that many systemic autoimmune diseases occur due to environmental risk factors in addition to genetic risk factors. Anti-Neutrophil Cytoplasmic Antibody (ANCA) is mainly associated with three systemic autoimmune disease including granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA). It is known that ANCA can be positive before clinical symptoms in patients with known diagnosis of GPA and ANCA titers rise before clinical manifestations appear. However, prevalence of ANCA among general population is not well known. It has not been described as well how many of people with positive ANCA eventually develop clinical manifestations of ANCA associated Vasculitis.Objectives:This study aims to estimate prevalence of ANCA in general population without ANCA associated Vasculitis. It also describes natural disease course of people with positive ANCA without ANCA associated Vasculitis. Risk factors for positive ANCA are also analyzed.Methods:This is a single center retrospective study at Center for Preventive Medicine of St. Luke’s International Hospital in Tokyo. ANCA was checked among the patients who wished to between 2018 and 2019. St. Luke’s Health Check-up Database (SLHCD) was utilized to collect the data. The patients whose serum was measured for ANCA were identified. The data for basic demographics, social habits, dietary habits and laboratory data were extracted. The charts of the patients with positive ANCA were reviewed.Results:Sera of total 1204 people were checked for ANCA. Of these 1204 people, 587 (48.8%) are male and the mean age was 55.8 years (32.6 to 79). There were total 11 patients with positive ANCA. Myeloperoxidase ANCA (MPO-ANCA) was positive for 3 patients and proteinase 3 ANCA (PR3-ANCA) was positive for 8 patients. Of these 11 patients, 5 were male (45.5%) and the mean age was 54.6 years. Two patients had history of autoimmune disease (primary biliary cirrhosis and ulcerative colitis). Five patients were evaluated by rheumatologists with the median follow-up period of 274 days. None of them developed clinical signs and symptoms of ANCA associated Vasculitis. Four out of five patients had ANCA checked later, two of which turned negative. The prevalence of ANCA in this cohort was 0.9% (95% confidence interval [95% CI]: 0.5% to 1.6%). Univariate analysis was performed to identify risk factors of positive ANCA. The variables analyzed include age, gender, body mass index (BMI), smoking habits, alcohol intake, dietary habits (fruits, fish, red meat), hypertension, dyslipidemia, and laboratory data. None of these variables demonstrated statistically significant differences except for positive rheumatoid factor (ANCA positive group: 33 % vs ANCA negative group: 9.1%, p value = 0.044).Conclusion:The prevalence of ANCA in this cohort was 0.9% (95% CI: 0.5% to 1.6%). None of them who had a follow-up developed ANCA associated Vasculitis during the follow-up period. Longer follow-up and more patients are necessary to determine natural course of people with positive ANCA.Disclosure of Interests:None declared

scholarly journals Efficacy and safety of radiofrequency ablation for benign thyroid nodules in patients with previous thyroid lobectomy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Lin Yan ◽  
Mingbo Zhang ◽  
Fang Xie ◽  
Jun Ma ◽  
Jing Xiao ◽  
...  
Keyword(s):  
Radiofrequency Ablation ◽  
Symptom Score ◽  
Thyroid Function ◽  
Thyroid Nodules ◽  
Efficacy And Safety ◽  
Thyroid Lobectomy ◽  
The Mean ◽  
Benign Thyroid Nodules ◽  
Benign Thyroid

Abstract Background Radiofrequency ablation (RFA) is recommended for the treatment of benign thyroid nodules. However, data on the clinical role of RFA for benign thyroid nodules in patients with history of thyroid lobectomy are insufficient. The purpose of this study was to evaluate the efficacy and safety of radiofrequency ablation (RFA) for benign thyroid nodules in patients who had previously undergoing thyroid lobectomy. Methods From May 2015 to October 2018, a total of 20 patients (19 females, 1 male, mean age 49.50 ± 14.26 years, range 22–74 years) with 20 benign thyroid nodules (mean volume 15.04 ± 21.17 ml, range 0.40–69.67 ml) who had undergone previous thyroid lobectomy were included in this retrospective study. Patients were followed up at 3, 6, 12 months after RFA and every 12 months thereafter by ultrasound, clinical evaluation and thyroid function. Volume, volume reduction rate (VRR), symptom score and cosmetic score were evaluated. Results During the mean follow-up time of 21.24 ± 16.41 months, the mean nodule volume decreased significantly from 15.04 ± 21.17 ml to 1.29 ± 1.17 ml (P = 0.018) with a mean VRR of 85.41 ± 12.17%. Therapeutic success was achieved in a single session for all thyroid nodules. The symptom score (P = 0.001) and cosmetic score (P = 0.001) were both significantly reduced at the last follow-up. The levels of free triiodothyronine (fT3), free thyroxine (fT4) and thyroid stimulating hormone were not significantly different at the last follow-up from those prior to treatment (all P > 0.05). No life-threatening complications or sequelae occurred after RFA. Conclusions As a minimally invasive modality, RFA was a safe, effective, and thyroid function-preserving option for patients with symptomatic benign thyroid nodules after a previous lobectomy.

Corneal densitometry in patients with keratoconus undergoing intrastromal Ferrara ring implantation

2021 ◽  
pp. 112067212110206
Author(s):  
Pablo Felipe Rodrigues ◽  
Bernardo Kaplan Moscovici ◽  
Guilherme Ferrara ◽  
Luciano Lamazales ◽  
Marcela Mara Silva Freitas ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Medical Records ◽  
Spherical Equivalent ◽  
Interventional Study ◽  
Data Comparison ◽  
Corneal Densitometry ◽  
Corrected Visual Acuity ◽  
Ring Segment ◽  
The Mean

Objective: Evaluation of central corneal densitometry changes following Ferrara corneal ring segment implantation in patients with keratoconus, especially the correlation between corneal densitometry and keratometry. Methods: Retrospective, non-comparative, interventional study based on the review of medical records of patients diagnosed with keratoconus who underwent Ferrara corneal ring segment implantation. Pre and post-operative corneal densitometry measurements obtained with Pentacam HR (Oculus, Wetzlar, Germany) were analyzed. The follow-up time was 3 months, and data comparison was made, using specific statistical analysis, with the data of 3 months postoperatively. Results: The study sample consisted of 43 eyes of 36 patients. The mean corrected visual acuity improved from 0.82 LogMAR preoperatively (SD ± 0.33) to 0.19 LogMAR (SD ± 0.13) postoperatively. The mean spherical equivalent varied from −4.63 (SD ± 3.94) preoperatively to −2.16 (SD ± 2.63) postoperatively. Asphericity varied from −0.69 (SD ± 0.32) preoperatively to −0.27 (SD ± 0.31) postoperatively. The mean maximum K was 54.01D (SD ± 3.38) preoperatively and 51.50D (SD ± 2.90) postoperatively. The mean anterior densitometric value was 18.26 (SD ± 2.03) preoperatively and 17.66 (SD ± 1.84) postoperatively. Conclusion: Corneal densitometry is an interesting technology that should be studied in keratoconus patients. Our results suggest that the corneal densitometry in the cornea’s anterior layer reduces after ICRS implantation and correlates with corneal keratometry. Further studies should be performed to increase the knowledge in this field.

scholarly journals Comparison of Intravitreal Aflibercept and Ranibizumab following Initial Treatment with Ranibizumab in Persistent Diabetic Macular Edema

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Ali Demircan ◽  
Zeynep Alkin ◽  
Ceren Yesilkaya ◽  
Gokhan Demir ◽  
Burcu Kemer
Keyword(s):  
Macular Edema ◽  
Diabetic Macular Edema ◽  
Medical Records ◽  
Poor Response ◽  
Intravitreal Aflibercept ◽  
The Mean ◽  
Retrospective Comparative Study ◽  
Switch Group ◽  
Persistent Diabetic Macular Edema

Purpose. To compare the visual and anatomic outcomes in patients with persistent diabetic macular edema (DME) who switched from ranibizumab to aflibercept with those who continued with previous ranibizumab therapy. Methods. In this retrospective comparative study, medical records of consecutive patients with center-involved DME ≥ 350 μm who had at least three recent consecutive monthly ranibizumab injections followed by as-needed therapy with either aflibercept or ranibizumab were reviewed. Data were collected at presentation (preinjection), at the intermediary visit, and at the last visit (at the end of the follow-up period). Results. Forty-three eyes of 43 patients were divided into two groups: the switch group (n=20) and the ranibizumab group (n=23). Though no significant improvement was found in the mean BCVA from the intermediary visit to the last visit, there was a difference in the mean CMT in the switch group and the ranibizumab group (p<0.001 and p=0.03, resp.). The mean CMT decreased after the intermediary visit by 188.6 ± 120.5 μm in the switch group and by 60.3 ± 117.1 μm in the ranibizumab group (p=0.003). Conclusions. Both aflibercept and ranibizumab decreased CMT in patients with persistent DME who showed a poor response to ranibizumab injections. However, switching to aflibercept provided only morphologic improvement.

Thoracolumbar Fascia Enthesopathy as a Cause of Low Back Pain: A Retrospective and Follow-up Study

2021 ◽  
Author(s):  
Ouidade A. Tabesh ◽  
Roba Ghossan ◽  
Soha H Zebouni ◽  
Rafic Faddoul ◽  
Michel Revel ◽  
...  
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Iliac Crest ◽  
Pain Syndrome ◽  
Clinical Findings ◽  
Complete Relief ◽  
Low Back ◽  
Thoracolumbar Fascia ◽  
The Mean

Abstract Aim. To evaluate ultrasonography findings of Thoracolumbar Fascia (TLF) enthesis in patients with low back pain (LBP) due to iliac crest pain syndrome (ICPS). Method. The ultrasonographic and clinical findings of 60 patients with LBP due to ICPS were compared to those of 30 healthy volunteers with no LBP. Thickness of the TLF was measured with ultrasound (US) at its insertion on the iliac crest. Results. Forty-eight women and 12 men with a mean age of 42.1±11.3 years were diagnosed with ICPS. In patients, the mean thickness of the TLF was 2.51±0.70mm in affected sides compared to 1.81±0.44mm in the contralateral unaffected sides. The mean thickness difference of 0.82mm between the affected and non-affected sides was statistically significant (95%CI, 0.64-0.99, P<0.0001). In volunteers, the mean thickness of the TLF was 1.6±0.2mm. The mean thickness difference of 0.89mm between the affected sides of patients and volunteers was statistically significant (95%CI, 0.73-1.06, P<0.0001). Forty-two patients who didn’t improve with conservative therapy, received injections of methylprednisolone acetate and 1% lidocaine around the TLF enthesis. All patients reported complete relief of their LBP within 20 minutes of the injections thanks to the lidocaine anesthetic effect. Fifty-six (93.3%) patients were reached by phone for a long-term follow-up. Among them, 33 (58.9%) patients experienced a sustained complete pain relief after a mean follow-up of 45±19.3 months (range, 3-74 months). Conclusion. our findings suggest that TLF enthesopathy is a potential cause of nonspecific LBP that can be diagnosed using US.

scholarly journals Evaluation of endometrial thickness in postmenopausal women by using 3.0-T MRI

2014 ◽  
Vol 18 (1) ◽  
Author(s):  
Junko Nakamura ◽  
Takeharu Yoshikawa ◽  
Eriko Maeda ◽  
Hiroyuki Akai ◽  
Hiroshi Ohtsu ◽  
...  
Keyword(s):  
Postmenopausal Women ◽  
Medical Records ◽  
Endometrial Thickness ◽  
Mr Images ◽  
Endometrial Thickening ◽  
3.0 T ◽  
The Mean ◽  
Magnetic Resonance Imaging Mri ◽  
3.0 T Mri

Background: The accepted threshold for normal endometrial thickness is 5 mm; lesions with endometrial thickness < 5 mm are considered benign, whilst those > 5 mm areconsidered malignant. However, endometrium ≥ 5 mm on transvaginal ultrasonography inpostmenopausal woman is considered as asymptomatic endometrial thickening. However, recent studies suggest that asymptomatic endometrial thickness of even 8 mm – 11 mm in postmenopausal women may be normal.Objectives: The present study investigated the normal endometrial thickness range in 297 asymptomatic postmenopausal women using 3.0-T magnetic resonance imaging (MRI) T2-weighted sagittal images measured retrospectively by a single radiologist.Method: The data were classified according to patient age and postmenopausal duration, and the medical records and follow-up MR images were reviewed to assess the clinical outcome.Results: The mean endometrial thickness was 2.4 ± 0.1 mm (range: 0.1–11.6). The endometriumin 21 of 297 subjects was ≥ 5 mm thick. Follow-up MR images were obtained in 17 of these 21 women, and their endometrial thickness was found to have decreased in all of them. To date,none of the subjects has been diagnosed with endometrial cancer.Conclusion: Although 5 mm is considered the conservative threshold of normal endometrial thickness on MRI of postmenopausal women, this figure should not, to avoid excessive false-positive diagnoses, be assumed as an indication of malignancy.

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