scholarly journals Symbrachydactyly

Author(s):  
Govindasamy Balakrishnan ◽  
S. Vijayaragavan ◽  
Balakrishnan Somesh

AbstractSymbrachydactyly is a rare congenital hand malformation in which a child is born with abnormally short digits that may be webbed, misshaped, or missing, and it is usually a unilateral condition. There is no standardized treatment algorithm for the management of symbrachydactyly. The function of the hand is often not adequate and requires early surgical intervention to restore useful prehension and appearance. This CME article presents a brief review of the embryology, history, classification and clinical presentation, and author’s experience of treating 19 children with symbrachydactyly over 10 years. Creation of thumb web, lengthening of thumb, and creating an opposition post results in prehension of hand with an improved quality of life.

2020 ◽  
Vol 13 ◽  
pp. 175628642095408
Author(s):  
Olivia Samotus ◽  
Jack Lee ◽  
Mandar Jog

Background: Inadequate efficacy and significant side effect profile makes pharmacological treatment of Parkinson’s disease (PD) tremor challenging. Personalized dosing of botulinum toxin type A (BoNT-A) using tremor analysis has shown efficacy and safety for treating upper limb tremor. This study incorporated a novel, standardized treatment algorithm for determining injection pattern and BoNT-A dosing, customizable by the physician, in PD patients with disabling tremor in one or both arms. Methods: This open-label study included 47 PD participants (25 “De-novo” and 22 “L-dopa”) who received 4 serial BoNT-A treatments with follow-ups at 6 weeks post-treatment over 42 weeks. The treatment algorithm utilized kinematic tremor analysis of each participant’s whole arm tremor and determined the physician’s injection pattern of BoNT-A. Endpoints included changes in angular tremor amplitude, Fahn-Tolosa-Marin (FTM C) tremor scale, Movement Disorder Society-Unified Parkinson’s disease rating scale (MDS-UPDRS) tremor-related score, tremor-related quality of life questionnaire, Likert ratings of perceived weakness, and maximal grip strength. Results: BoNT-A significantly ( p < 0.05) improved tremor amplitude (41.6%), quality of life (23.0%), UPDRS tremor score (29.6%), and arm function (FTM C; 24.6%) for both treatment cohorts from weeks 6 to 42. Maximum grip strength was reduced between 7.4% and 23.0% at follow-up visits and did not impact activities of daily living. Efficacy was obtained with first injection and remained without adjustment over two serial injection in 45% of participants. Conclusions: This is the first study to use a fully standardized treatment algorithm for personalization of BoNT-A injection patterns for disabling PD tremor over serial treatments. A sustained alleviation of tremor severity and improved arm function and quality of life fulfills an important unmet need for the treatment of PD tremor. This study demonstrated that BoNT-A can be administered as a monotherapy in tremor-dominant PD or as an add-on therapy for refractory PD tremor.


2019 ◽  
Vol 104 (5-6) ◽  
pp. 217-225
Author(s):  
Iyad Fansa ◽  
Mesut Kösem ◽  
Celalettin Karatepe ◽  
Adem Sezen ◽  
Hilal Kuşcu Karatepe ◽  
...  

Radiocephalic fistula (RCF) dysfunction is a common problem due to low maturation and patency rates of these fistulas. The most common procedure in such cases is to place a temporary catheter for the dialysis. Temporary catheter placement and undergoing dialysis with this catheter cause complications, reduce the chance for fistula, and deteriorate the quality of life. The aim of this study was to demonstrate that immediate intervention in RCF dysfunctions can increase fistula success for the patient and can reduce the need for a catheter. Furthermore, the hemodialysis treatment can continue without affecting the quality of life. A total of 295 patients who were admitted for RCF dysfunction and who underwent early surgical intervention without any catheter placement were evaluated for postoperative complications, patency rates, and rates and durations of temporary catheter use over a mean time of 47 months of follow-up (range: 4–79 months). Of the patients, 77.2% (n = 228) underwent new proximal anastomosis (NEO; the radial artery and cephalic vein were reached with an incision created proximal to the previous anastomosis), 14.2% (n = 42) underwent brachiocephalic arteriovenous fistula (AVF), 8.4% (n = 25) underwent side-to-side brachiobasilic AVF + superficialization of the basilic vein. In 88.8% (n = 262) of the patients, successful cannulations were performed within the first 24 to 48 hours without any catheter requirement or complications. Temporary catheter was used for 15.1 ± 10.7 days in 11.2% (n = 33) of the patients. In RCF dysfunctions, early surgical interventions performed in the forearm and elbow provide early cannulation and thus decrease the catheter requirement, also prevent the complications of temporary catheters (infection, decreasing the fistula success, vascular injuries, etc.), increase the autogenous fistula success, and allow for the continuation of dialysis without disturbing the quality of life.


1989 ◽  
Vol 103 (12) ◽  
pp. 1167-1180 ◽  
Author(s):  
D. A. Moffat ◽  
D. G. Hardy

AbstractSurgery may have to be considered in the management of large glomus tumours since other modalities of treatment are not curative. The judicious use of surgical intervention is imperative since a neurological deficit involving the last four cranial nerves may ensue and consideration of the quality of life of the patient in the post-operative period is of paramount importance. A brief description of the historical aspects and pathology of these tumours is followed by an analysis of the clinical presentation, investigation and assessment of a series of 10 patients. Six patients underwent surgery and their tumours were removed by the infra-and trans-temporal approach. This is described and illustrated in detail and the surgical results presented.


Author(s):  
E.Yu. Borzova

Хронические индуцированные крапивницы имеют важное социальноэкономическое значение вследствие риска развития системных реакций и значительного снижения качества жизни пациентов. Диагностика хронических индуцированных крапивниц основывается на анамнестических данных и проведении провокационных тестов. Современный протокол ведения больных хронической крапивницей включает применение неседативных антигистаминных препаратов. Международные согласительные документы по лечению крапивницы рекомендуют 4кратное увеличение суточной дозы неседативных антигистаминных препаратов при их неэффективности в стандартных дозах. Данные метаанализа указывают на эффективность омализумаба при хронических индуцированных крапивницах. В перспективе ожидается расширение арсенала генноинженерной биологической терапии хронических индуцированных крапивниц.Chronic inducible urticarias are characterized by the risks of systemic reactions and a significant impairment of patients quality of life. The diagnosis of chronic inducible urticarias relies on the patients history and the challenge tests. A treatment algorithm for the management of chronic inducible urticarias includes nonsedating antihistamines as a firstline treatment. The international guidelines for the management of chronic inducible urticarias recommend updosing of nonsedating antihistamines up to four fold if standard doses are not effective. The metaanalysis suggests the efficacy of omalizumab in chronic inducible urticarias. In the prospect, the novel options of biological therapy for chronic inducible urticarias are expected.


Healthcare ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 575
Author(s):  
Graziella Orrù ◽  
Davide Bertelloni ◽  
Francesca Diolaiuti ◽  
Federico Mucci ◽  
Mariagrazia Di Giuseppe ◽  
...  

Background: Emerging aspects of the Covid-19 clinical presentation are its long-term effects, which are characteristic of the so-called “long COVID”. The aim of the present study was to investigate the prevalence of physical, psychological, and sleep disturbances and the quality of life in the general population during the ongoing pandemic. Methods: This study, based on an online survey, collected demographic data, information related to COVID-19, sleep disturbances, and quality of life data from 507 individuals. The level of sleep disturbances and quality of life was assessed through the Insomnia Severity Index (ISI) and the EuroQol-5D (EQ-5D), respectively. Results: In total, 507 individuals (M = 91 and F = 416 women) completed the online survey. The main symptoms associated with “long COVID” were headache, fatigue, muscle aches/myalgia, articular pains, cognitive impairment, loss of concentration, and loss of smell. Additionally, the subjects showed significant levels of insomnia (p < 0.05) and an overall reduced quality of life (p < 0.05). Conclusions: The results of the study appear in line with recent publications, but uncertainty regarding the definition and specific features of “long COVID” remains. Further studies are needed in order to better define the clinical presentation of the “long COVID” condition and related targeted treatments.


2008 ◽  
Vol 36 (2) ◽  
pp. 369-374 ◽  
Author(s):  
Panagiotis Baltopoulos ◽  
Charalampos Tsintzos ◽  
George Prionas ◽  
Maria Tsironi

Background Thoracic outlet syndrome is described as a group of distinct disorders producing signs and symptoms attributed to compression of nerves and blood vessels in the thoracic outlet region. Purpose To describe the exercise-induced scalenus anticus syndrome attributed to the anterior scalenus hypertrophy as a thoracic outlet syndrome underlying mechanism and to give recommendations for a safe and effective surgical treatment. Study Design Case series; Level of evidence, 4. Methods Twelve young professional athletes admitted for thoracic outlet syndrome (8 cases of neurologic thoracic outlet syndrome, 4 cases of mixed neurologic and vascular thoracic outlet syndrome) who reported numbness, tingling, early fatigue, muscle weakness, and pain were enrolled in the study. Scalenus hypertrophy was suspected to be the causative factor. Scalenectomy was performed in all cases. Results All patients had moderate to severe hypertrophy of the anterior scalenus muscle. Scalenectomy was performed, and there were no intraoperative or postoperative complications. Full activity was quickly achieved, and no recurrence of symptoms was documented. Conclusion Surgical intervention for scalenus anticus syndrome can allow an athlete to return to full activity and improve quality of life. Surgical intervention seems to be the treatment of choice in terms of restoring quality of life and physical activity.


Author(s):  
Morgan R. Sturgis ◽  
Kathryn E. Wrobel ◽  
Gianna N. Bosco ◽  
Carolyn H. Jones

AbstractHaberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.


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