scholarly journals Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

2021 ◽  
Vol 27 (6) ◽  
pp. 444-449
Author(s):  
WY Leung ◽  
HM Luk ◽  
Varut Vardhanabhuti ◽  
Y Gao ◽  
KF Hui ◽  
...  
Keyword(s):  
Case Series ◽  
Late Adulthood ◽  
Facioscapulohumeral Dystrophy

scholarly journals The Effect of HbA1c Variability as a Risk Measure for Microangiopathy in Type 1 Diabetes Mellitus

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1151
Author(s):  
Pedro Romero-Aroca ◽  
Raul Navarro-Gil ◽  
Albert Feliu ◽  
Aida Valls ◽  
Antonio Moreno ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Diabetic Retinopathy ◽  
Type 1 Diabetes Mellitus ◽  
Risk Measure ◽  
Case Series ◽  
Multivariate Statistical ◽  
Case Series Study ◽  
Prospective Case Series

Background: To measure the relationship between variability in HbA1c and microalbuminuria (MA) and diabetic retinopathy (DR) in the long term. Methods: A prospective case-series study, was conducted on 366 Type 1 Diabetes Mellitus patients with normoalbuminuria and without diabetic retinopathy at inclusion. The cohort was followed for a period of 12 years. The Cox survival analysis was used for the multivariate statistical study. The effect of variability in microangiopathy (retinopathy and nephropathy) was evaluated by calculating the standard deviation of HbA1c (SD-HbA1c), the coefficient of variation of HbA1c (CV-HbA1c), average real variability (ARV-HbA1c) and variability irrespective of the mean (VIM-HbA1c) adjusted for the other known variables. Results: A total of 106 patients developed diabetic retinopathy (29%) and 73 microalbuminuria (19.9%). Overt diabetic nephropathy, by our definition, affected only five patients (1.36%). Statistical results show that the current age, mean HbA1c, SD-HbA1c and ARV-HbA1c are significant in the development of diabetic retinopathy. Microalbuminuria was significant for current age, mean HbA1c, CV-HbA1c and ARV-HbA1c. Conclusions: By measuring the variability in HbA1c, we can use SD-HbA1c and ARV-HbA1c as possible targets for judging which patients are at risk of developing DR and MA, and CV-HbA1c as the target for severe DR.

Unusual non-trophic ulcerations in leprosy: A case series of 17 patients

2021 ◽  
pp. 004947552199849
Author(s):  
Prakriti Shukla ◽  
Kiran Preet Malhotra ◽  
Parul Verma ◽  
Swastika Suvirya ◽  
Abir Saraswat ◽  
...  
Keyword(s):  
Erythema Nodosum ◽  
Case Series ◽  
Lepromatous Leprosy ◽  
Sweet Syndrome ◽  
Erythema Nodosum Leprosum ◽  
Leprosy Patients ◽  
Atypical Presentations ◽  
Neuropathic Ulcers

Non-neuropathic ulcers in leprosy patients are infrequently seen, and atypical presentations are prone to misdiagnosis. We evaluated diagnosed cases of leprosy between January 2017 and January 2020 for the presence of cutaneous ulceration, Ridley–Jopling subtype of leprosy, reactions and histologic features of these ulcerations. Treatment was given as WHO recommended multi-bacillary multi-drug therapy. We found 17/386 leprosy patients with non-neuropathic ulcers. We describe three causes – spontaneous cutaneous ulceration in lepromatous leprosy (one nodular and one diffuse), lepra reactions (five patients with type 1; nine with type 2, further categorised into ulcerated Sweet syndrome-like who also had pseudoepitheliomatous hyperplasia, pustulo-necrotic and necrotic erythema nodosum leprosum) and Lucio phenomenon (one patient). Our series draws attention towards the different faces of non-neuropathic ulcers in leprosy, including some atypical and novel presentations.

scholarly journals Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ya-Bing Wang ◽  
Ou Wang ◽  
Min Nie ◽  
Yan Jiang ◽  
Mei Li ◽  
...  
Keyword(s):  
Case Series ◽  
Pure Red Cell Aplasia ◽  
Hereditary Disease ◽  
Chinese Patients ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Myeloproliferative Disease ◽  
College Hospital ◽  
Autoimmune Polyendocrine Syndrome

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital. Results In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1. Conclusion We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.

Efficacy of ultra-low-dose (0.1 mg) ranibizumab intravitreal injection for treatment of prethreshold type 1 retinopathy of prematurity: A case series

2018 ◽  
Vol 30 (1) ◽  
pp. 40-47 ◽  
Author(s):  
Islam SH Ahmed ◽  
Ahmed MA Hadi ◽  
Hassan H Hassan
Keyword(s):  
Side Effects ◽  
Intravitreal Injection ◽  
Retinopathy Of Prematurity ◽  
Large Scale ◽  
Low Dose ◽  
Case Series ◽  
Results Of Treatment ◽  
Case Series Study ◽  
Systemic Side Effects

Aim: To report the results of treatment of type 1 prethreshold retinopathy of prematurity using intravitreal injection of ultra-low dose of ranibizumab (0.1 mg in 0.01 mL). Design: A retrospective observational case series study. Methods: Review of files of eligible infants who received this form of treatment to determine the outcome of treatment and any associated ocular or systemic side effects. Results: The study included 24 eyes of 12 preterm infants with mean gestational age of 29.75 ± 1.54 weeks and mean birth weight of 1074.58 ± 320.59 g. A total of 22 eyes (91.67%) had zone II disease while 2 eyes of one infant (8.33%) had zone I disease. All cases showed regression of the signs of the active retinopathy of prematurity with complete retinal vascularization. None of the cases required retreatment. Three eyes developed ocular complications. Apart from mild feeding intolerance that lasted for 24 h after injection in one infant, none of the cases developed systemic side effects. Conclusion: Intravitreal injection of ultra-low-dose ranibizumab showed promising efficacy and good ocular safety. However, further large-scale studies are required to give stronger evidence about the efficacy and safety of ultra-low-dose ranibizumab.

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study

2018 ◽  
Vol 28 (11) ◽  
pp. 938-946 ◽  
Author(s):  
Esther E.D.H. Abel ◽  
Edith H.C. Cup ◽  
Anke Lanser ◽  
Wouter K.G. Leclercq ◽  
Joost Raaphorst ◽  
...  
Keyword(s):  
Bariatric Surgery ◽  
Qualitative Study ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Facioscapulohumeral Dystrophy

Injection Laryngoplasty for the Treatment of Type 1 Laryngeal Clefts: A Single Institution Experience

2020 ◽  
pp. 000348942097323
Author(s):  
Mohammad Al-Alawneh ◽  
Ladd Caballero ◽  
Elijah DeBroux ◽  
Michael J. Herr ◽  
Amy Claire Petro ◽  
...  
Keyword(s):  
Case Series ◽  
Secondary Outcome ◽  
Injection Laryngoplasty ◽  
Single Institution ◽  
Retrospective Case ◽  
Swallowing Function ◽  
Post Operation ◽  
Gel Injection ◽  
Number Of Injections

Objective: Standards for treatment of laryngeal clefts remain poorly defined. There are no large case series that report the efficacy of injection laryngoplasty (IL) in the treatment of pediatric Type 1 laryngeal clefts (LC-1). The objective of this study is to measure the effect of IL in young children with LC-1. Methods: A retrospective case series of 130 patients was completed over 3 years at a at a single institution included patients aged 1 month to 8 years, diagnosed with aspiration and penetration issues during swallowing based on a Videofluoroscopic Swallow Study (VFSS). Patients underwent surgical evaluation and intervention using carboxymethylcellulose gel injection. Collected data points included age in months at time of first injection, gender, race, pre- and post-operation VFSS scores, number of injections, co-morbidities and post-operative complications. VFSS scores were evaluated pre- and post-operatively to assess efficacy of intervention. A secondary outcome was efficacy in patients with aspiration compared to those with penetration alone. Results: This study included 77 male and 53 female patients. Sixty-two patients (48%) demonstrated a significant post-operative improvement in their swallowing function ( P < .05). There were no statistical differences in age, number of injections, or the volume of the first injection. Patients that showed a post-operative improvement in swallowing function were on average 5 months older and had more severe aspiration and penetration compared to those who did not demonstrate a post-operative benefit and underwent less injections. The volume of injection did not appear to play a role in the success rate. Conclusion: Injecting the inter-arytenoid area in patients with LC-1 appears to confer some benefit to close to half of our patient population. Successful procedures seemed to occur in patients with more severe aspiration and penetration and older age.

scholarly journals Detection of Silent Type I Choroidal Neovascular Membrane in Chronic Central Serous Chorioretinopathy Using En Face Swept-Source Optical Coherence Tomography Angiography

2017 ◽  
Vol 2017 ◽  
pp. 1-10 ◽  
Author(s):  
Magdy Moussa ◽  
Mahmoud Leila ◽  
Hagar Khalid ◽  
Mohamed Lolah
Keyword(s):  
High Risk ◽  
Case Series ◽  
Detection Algorithm ◽  
Type I ◽  
Chronic Central Serous Chorioretinopathy ◽  
Swept Source ◽  
Bivariate Correlation ◽  
Risk Patients ◽  
Flow Detection

Purpose. To evaluate the efficacy of SS-OCTA in the detection of silent CNV secondary to chronic CSCR compared to that of FFA and SS-OCT. Patients and Methods. A retrospective observational case series reviewing the clinical data, FFA, SS-OCT, and SS-OCTA images of patients with chronic CSCR, and comparing the findings. SS-OCTA detects the CNV complex and delineates it from the surrounding pathological features of chronic CSCR by utilizing the blood flow detection algorithm, OCTARA, and the ultrahigh-definition B-scan images of the retinal microstructure generated by swept-source technology. The bivariate correlation procedure was used for the calculation of the correlation matrix of the variables tested. Results. The study included 60 eyes of 40 patients. Mean age was 47.6 years. Mean disease duration was 14.5 months. SS-OCTA detected type 1 CNV in 5 eyes (8.3%). In all 5 eyes, FFA and SS-OCT were inconclusive for CNV. The presence of foveal thinning, opaque material beneath irregular flat PED, and increased choroidal thickness in chronic CSCR constitutes a high-risk profile for progression to CNV development. Conclusion. Silent type 1 CNV is an established complication of chronic CSCR. SS-OCTA is indispensable in excluding CNV especially in high-risk patients and whenever FFA and SS-OCT are inconclusive.

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