scholarly journals Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Brendan R. Southam ◽  
Adam P. Schumaier ◽  
Alvin H. Crawford
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Chronic Back Pain ◽  
Treated Patient ◽  
Case Reports ◽  
Spondylocostal Dysostosis ◽  
Wide Range ◽  
History Of

Introduction. Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection. Case Presentation. We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations. Discussion. Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.

Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

2009 ◽  
Vol 31 (2) ◽  
pp. 175-178 ◽  
Author(s):  
Luca Padua ◽  
D. Pareyson ◽  
I. Aprile ◽  
T. Cavallaro ◽  
D. A. Quattrone ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscle Strength ◽  
Natural History ◽  
Walking Ability ◽  
Charcot Marie Tooth ◽  
History Of

scholarly journals Natural history of reflux oesophagitis: a 10 year follow up of its effect on patient symptomatology and quality of life.

Gut ◽  
1996 ◽  
Vol 38 (4) ◽  
pp. 481-486 ◽  
Author(s):  
N I McDougall ◽  
B T Johnston ◽  
F Kee ◽  
J S Collins ◽  
R J McFarland ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Reflux Oesophagitis ◽  
History Of ◽  
Reflux Œsophagitis

scholarly journals Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ann-Marie Chapman ◽  
Marieke Schurer ◽  
Laure Weijers ◽  
Amer Omar ◽  
Hiba Lee ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Negative Impact ◽  
Phase Iii ◽  
Future Research ◽  
Delphi Panel ◽  
Economic Modelling ◽  
Patient Access ◽  
History Of

Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.

scholarly journals Cardioversion and subsequent quality of life and natural history of atrial fibrillation

2017 ◽  
Vol 185 ◽  
pp. 59-66 ◽  
Author(s):  
Sean D. Pokorney ◽  
Sunghee Kim ◽  
Laine Thomas ◽  
Gregg C. Fonarow ◽  
Peter R. Kowey ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Atrial Fibrillation ◽  
Natural History ◽  
History Of

scholarly journals Tucked and treated- a case series on outcome of meshplasty with abdominoplasty for incisional hernia

2021 ◽  
Vol 8 (11) ◽  
pp. 3421
Author(s):  
Nagamallesh C. S. ◽  
Nandini S. Tanwar ◽  
F. Sadiq Nawaz ◽  
Padmanath Bhat
Keyword(s):  
Quality Of Life ◽  
Incisional Hernia ◽  
Previous History ◽  
Case Series ◽  
Weight Lifting ◽  
Aesthetic Outcome ◽  
Strict Glycemic Control ◽  
History Of

Incisional hernia is the second most common type of hernia. Incisional hernia occurs in 10-20% of patients who were subjected to abdominal surgery in India. Here we are presenting a case series of 20 patients with incisional hernia and obesity. Body mass index (BMI) ranges from 28 to 35 in all cases. Females outnumbered the male in the ratio of 4:1 and 40% of cases had a previous history of caesarean section. All cases were operated by combining open polypropylene meshplasty and abdominoplasty techniques and follow up consultations were done for 1 year. 10% of cases had post-op wound infections, who were known to be diabetic. They were managed with appropriate antibiotics and maintained strict glycemic control. 90% of patients were satisfied from the procedure performed which improved their quality of life, significant cosmetic outcome and no recurrence. 10% of cases had recurrence after heavy weight lifting following surgery (BMI was 36). By incorporating the above mentioned techniques in hernia repair, recurrence rate and complications were reduced, quality of life and aesthetic outcome are enhanced.

Natural history of prostatism: Impact of urinary symptoms on quality of life in 2115 randomly selected community men

Urology ◽  
1994 ◽  
Vol 44 (6) ◽  
pp. 825-831 ◽  
Author(s):  
Cynthia J. Girman ◽  
Robert S. Epstein ◽  
Steven J. Jacobsen ◽  
Harry A. Guess ◽  
Laurel A. Panser ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Urinary Symptoms ◽  
History Of

Natural History of Arteriovenous Malformations

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P41-P42
Author(s):  
James Y Suen ◽  
Lisa M Buckmiller ◽  
Chun-Yang Fan ◽  
Gal Shafirstein ◽  
Robert Glade
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Surgical Resection ◽  
Healthcare Providers ◽  
Previous Treatment ◽  
Insurance Companies ◽  
Preoperative Embolization ◽  
Presenting Symptoms ◽  
History Of

Objective 1) To demonstrate the natural history of arteriovenous malformation (AVMs) when left untreated or inadequately managed. 2) To demonstrate the need for major treatment to patients, families, healthcare providers, and insurance companies. Methods Records from 10 of 50 representative patients treated at University of Arkansas for Medical Sciences (UAMS) for advanced AVMs were reviewed for age at presentation, gender, presenting symptoms, previous treatment, disease course, and post-presentation management. Patients were asked if quality of life had improved after treatment at UAMS Facial photos from childhood were obtained and compared with photos taken at time of presentation. Results 10 patients (7 male, 3 female, range 21–46 years) received treatment. All patients presented with bleeding, pain and/or facial destruction. 6 of 10 patients received previous embolization. No patients had undergone previous surgical resection. All were informed by a previous physician that the disease was incurable or treatment options had been exhausted. All patients experienced subsequent worsening of symptoMS All patients were treated at UAMS with preoperative embolization followed by surgical resection and required multiple surgeries to remove persistent AVM. All patients indicated quality of life improved after embolization/surgical resection. Comparison of photos revealed progression of disease in all cases marked by facial destruction and deformity. Conclusions AVMs display a progressive and destructive nature when left untreated or inadequately managed. Natural history can be used to demonstrate to patients, families, and healthcare providers the seriousness of disease and convince insurance companies that radical treatment is typically necessary to obtain control or cure.

scholarly journals Phyllanthus niruri and Chrysanthellum americanum in association with potassium and magnesium citrates are able to prevent symptomatic episode in patients affected by recurrent urinary stones: A prospective study

2021 ◽  
Vol 93 (2) ◽  
pp. 184-188
Author(s):  
Tommaso Cai ◽  
Daniele Tiscione ◽  
Marco Puglisi ◽  
Gianni Malossini ◽  
Lorenzo Ruggera ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Asymptomatic Bacteriuria ◽  
Food Supplement ◽  
Potassium Citrate ◽  
Urinary Stones ◽  
Phyllanthus Niruri ◽  
History Of ◽  
A Prospective Study

Objective: The aim of this study is to evaluate the efficacy of a food supplement containing Phyllanthus niruri and Chrysanthellum americanum in association with potassium and magnesium citrates in the treatment and prophylaxis of urinary stones. Materials and methods: Eighty-two patients (mean age 49.7 ± 11.2) with history of urinary stones received this food supplement, one capsule a day for 6 months. Each administration contained a combination of the following ingredients: 244 mg Potassium citrate, 735 mg Magnesium citrate, Phyllanthus (Phyllantus niruri) herb d.e. 15% mg Tannins 220 mg, Chrysanthellum (Chrysanthellum americanum Vatke) plant d.e. ¼ 55 mg. After 6 months, all patients underwent urologic visit, urinalysis, imaging and quality of life (QoL) questionnaires evaluation. Each patient was also evaluated by computed tomography (CT) scan at baseline and at 6 months. Result: From January 2018 to March 2019, 82 patients (mean age 49.7 ± 11.2) completed the follow-up period and were analyzed. Fifty patients showed lower stone dimensions (60.9%). The average stone size was 0.9 mm, with a significant reduction in comparison with the baseline (-6.7 mm ± 3 mm) (p < 0.001). Forty-nine patients (59.7%) did not show any symptomatic episode with an improving in QoL (+0.4 ± 0.1) (p < 0.001) in comparison with the baseline. At the end of the follow-up period, 27 patients out of 82 were stone-free (32.9%). Moreover, we report a significant reduction of patients with asymptomatic bacteriuria (ABU) between the baseline and the end of the follow-up evaluation (p < 0.001). Conclusions: In conclusion, this food supplement is able to improve quality of life in patients with urinary stones, reducing symptomatic episodes and the prevalence of ABU.

Quality of life in children with hydrocephalus treated with endoscopic third ventriculostomy

2021 ◽  
pp. 1-8
Author(s):  
Ángela Ros-Sanjuán ◽  
Sara Iglesias-Moroño ◽  
Bienvenido Ros-López ◽  
Francisca Rius-Díaz ◽  
Andrea Delgado-Babiano ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Endoscopic Third Ventriculostomy ◽  
Epileptic Seizures ◽  
Third Ventriculostomy ◽  
Neurosurgical Procedures ◽  
Physical Domain ◽  
History Of ◽  
The Mean

OBJECTIVEThe objectives of this study were to determine the quality of life of a pediatric cohort with hydrocephalus treated by endoscopic third ventriculostomy (ETV), using the Hydrocephalus Outcome Questionnaire–Spanish version (HOQ-Sv), and study the clinical and radiological factors associated with a better or worse functional status.METHODSThis cross-sectional study was undertaken between September 2018 and December 2019. It comprised a series of 40 patients ranging from 5 to 18 years old with hydrocephalus treated by ETV. ETV was considered to be successful if there was no need for surgery for the treatment of hydrocephalus after a minimum follow-up of 6 months. The clinical variables included gender, age at hydrocephalus diagnosis, age at the time of ETV, age at completion of the questionnaire, etiology and type of hydrocephalus (communicating or not), prior shunt, repeat ETV, number of neurosurgical procedures, number of epileptic seizures, presenting signs, and follow-up duration until last office revision. The radiological variables were the Evans Index and the pre- and posttreatment frontooccipital horn ratio. An analysis was conducted of the association between all these variables and the various dimensions on the HOQ-Sv, completed by the parents of the patients via telephone or in the outpatient offices.RESULTSThe mean age of the children at ETV was 7 years (range 7–194 months), and on completing the questionnaire was 12 years (range 60–216 months). The mean HOQ scores were as follows: overall 0.82, physical domain 0.86, social-emotional (SE) domain 0.84, cognitive domain 0.75, and utility score 0.90. A history of epileptic crises was a predictive factor for a worse score overall and in the SE and cognitive domains. Factors related to a worse score in the physical domain were a previous shunt, the number of procedures, and the etiology and type of hydrocephalus. The mean follow-up duration from ETV to the last office visit was 5 years (64.5 months). No association was found between the degree of ventricular reduction and the quality of life.CONCLUSIONSThe factors related to a worse score in the different dimensions of the HOQ were a history of epileptic seizures, the number of procedures, communicating hydrocephalus, and having had a previous valve. No association was found between the reduction in ventricular size and the quality of life as measured on the HOQ-Sv.

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