scholarly journals Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Gerrit Haaker ◽  
Jürgen Forst ◽  
Raimund Forst ◽  
Albert Fujak
Keyword(s):  
Surgical Treatment ◽  
Pompe Disease ◽  
Neuromuscular Disorders ◽  
Young Patients ◽  
Case Series ◽  
Deformity Correction ◽  
Lysosomal Storage ◽  
Retrospective Case ◽  
Enzyme Replacement ◽  
Spine Stabilization

Introduction.Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients.Patients and Methods.The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options.Results.Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity.Conclusion.Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.

scholarly journals Lateral open wedge calcaneus osteotomy with bony allograft augmentation in adult acquired flatfoot deformity. Clinical and radiological results

2021 ◽  
Author(s):  
Gabriele Colo’ ◽  
Mattia Alessio Mazzola ◽  
Giulio Pilone ◽  
Giacomo Dagnino ◽  
Lamberto Felli
Keyword(s):  
Range Of Motion ◽  
Case Series ◽  
Deformity Correction ◽  
Tibialis Posterior ◽  
Open Wedge ◽  
Foot And Ankle ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Adult Acquired Flatfoot Deformity

Abstract The aim of this study is to evaluate the results of patients underwent lateral open wedge calcaneus osteotomy with bony allograft augmentation combined with tibialis posterior and tibialis anterior tenodesis. Twenty-two patients underwent adult-acquired flatfoot deformity were retrospectively evaluated with a minimum 2-year follow-up. Radiographic preoperative and final comparison of tibio-calcaneal angle, talo–first metatarsal and calcaneal pitch angles have been performed. The Visual Analog Scale, American Orthopedic Foot and Ankle Score, the Foot and Ankle Disability Index and the Foot and Ankle Ability Measure were used for subjective and functional assessment. The instrumental range of motion has been also assessed at latest follow-up evaluation and compared with preoperative value. There was a significant improvement of final mean values of clinical scores (p < 0.001). Nineteen out of 22 (86.4%) patients resulted very satisfied or satisfied for the clinical result. There was a significant improvement of the radiographic parameters (p < 0.001). There were no differences between preoperative and final values of range of motion. One failure occurred 7 years after surgery. Adult-acquired flatfoot deformity correction demonstrated good mid-term results and low recurrence and complications rate. Level of evidence Level 4, retrospective case series.

scholarly journals Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

2020 ◽  
Vol 55 (3) ◽  
pp. 674-681
Author(s):  
Mai K. ElMallah ◽  
Ankit K. Desai ◽  
Erica B. Nading ◽  
Stephanie DeArmey ◽  
Richard M. Kravitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Case Series ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease ◽  
Long Term Survivors

scholarly journals Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1339
Author(s):  
Naresh K. Meena ◽  
Nina Raben
Keyword(s):  
Pompe Disease ◽  
Specific Treatment ◽  
Lysosomal Storage Diseases ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Monogenic Diseases ◽  
Progressive Accumulation ◽  
Alpha Glucosidase

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.

Derotation of the Talus and Arthrodesis Treatment of Stages II-V Müller-Weiss Disease: Midterm Results of 36 Cases

2019 ◽  
Vol 40 (5) ◽  
pp. 506-514 ◽  
Author(s):  
Chengjie Yuan ◽  
Chen Wang ◽  
Chao Zhang ◽  
Jiazhang Huang ◽  
Xu Wang ◽  
...  
Keyword(s):  
Case Series ◽  
Deformity Correction ◽  
Stage Iv ◽  
Staging System ◽  
Functional Improvement ◽  
Midterm Results ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Metatarsal Angle

Background: Various operative procedures have been reported for the treatment of Müller-Weiss disease (MWD). This study reports the midterm operative treatment results for stages II to V MWD with derotation of the talus and arthrodesis. Methods: Thirty-four patients (36 feet) with MWD were treated by talonavicular (TN) or talonavicular-cuneiform (TNC) arthrodesis in our center from 2008 to 2015. The affected feet were staged according to the Maceira staging system (stage II: 9; stage III: 10; stage IV: 9; stage V: 8). The American Orthopaedic Foot & Ankle Society (AOFAS) midfoot scale, the visual analog scale (VAS), and relative radiologic parameters were evaluated preoperatively and also during follow-up. The mean follow-up duration was 38.2 (range, 25-113 months). Results: The final follow-up showed satisfactory outcomes. Overall, the AOFAS scores improved from 41.5 (range, 20-56) to 85.3 (range, 68-100) points ( P <.001), and the VAS score decreased from 5.7 (range, 3-8) to 0.9 (range, 0-4) points ( P <.001). The Tomeno-Méary angle decreased from −6.7 (range, −26.4 to 17.7) to 0.7 (range, −5.3 to 7) degrees ( P=.001). The calcaneal pitch angle increased from 13.7 (range, 4.1-26.2) to 22.0 (range, 13.3-28.9) degrees ( P < .001). The anteroposterior (AP) talar–first metatarsal angle decreased from −15.8 (range, −30.1 to −13.7) to −7.0 (range, −25.9 to −8.9) degrees ( P < .001), and the AP talocalcaneal angle increased from 14.7 (range, 4.7-22.3) to 22.1 (range, 13.4-29.5) degrees ( P=.005). The AP talonavicular coverage angle decreased from −27.0 (range, −40.4 to −13.3) to −7.8 degrees (range, −20.7 to −1.8) degrees ( P < .001). Conclusion: The midterm results found that the TN or TNC joint fusion could achieve a favorable clinical and radiologic outcome for patients with MWD. Even for the patients with severe deformities (stages IV-V), this treatment strategy could also achieve satisfactory deformity correction and functional improvement. Intraoperative restoration of talus rotation was the key to normal alignment of the subtalar joint/TN joint. Level of Evidence: Level IV, retrospective case series.

scholarly journals Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Allison M. Jay ◽  
Premchand Anne ◽  
David Stockton
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Carrier Screening ◽  
Lysosomal Storage ◽  
Cardiac Murmur ◽  
Enzyme Replacement ◽  
Prenatal Test ◽  
Infantile Type

Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition. Case. We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant’s father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. Conclusion. Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents’ recollection of parental testing results.

Evaluation of Metatarsal Head Resurfacing Hemiarthroplasty in the Surgical Treatment of Hallux Rigidus: A Retrospective Study and Mid- to Long-Term Follow-up

2017 ◽  
Vol 11 (1) ◽  
pp. 22-31 ◽  
Author(s):  
Musa Uğur Mermerkaya ◽  
Erkan Alkan ◽  
Mehmet Ayvaz
Keyword(s):  
Surgical Treatment ◽  
Case Series ◽  
Metatarsophalangeal Joint ◽  
Metatarsal Head ◽  
Treatment Method ◽  
Hallux Rigidus ◽  
Retrospective Case ◽  
First Metatarsophalangeal Joint

Background. The aim of this study was to evaluate the mid- to long-term outcomes of metatarsal head resurfacing hemiarthroplasty in the surgical treatment of advanced-stage hallux rigidus. Methods. We performed a retrospective review of 57 consecutive patients (25 [43.9%] males, 32 [56.1%] females; mean age, 61.0 ± 6.4 years) who underwent first metatarsal head resurfacing hemiarthroplasty (HemiCAP) for hallux rigidus between August 2007 and September 2010. Sixty-five implantations were performed in 57 patients; 8 patients underwent bilateral procedures. All patients were clinically rated prior to surgery and at the final follow-up visit using the American Orthopaedic Foot and Ankle Society (AOFAS) hallux metatarsophalangeal-interphalangeal scale and first metatarsophalangeal joint range of motion (MTPJ ROM). Results. The median follow-up duration was 81 (range = 8-98) months. The median preoperative AOFAS score was 34 (range = 22-59) points, which had increased to 83 (range = 26-97) points at the final follow-up visit (P < .001). The median preoperative first MTPJ ROM was 25° (range = 15° to 40°), which had increased to 75° (range = 30° to 85°) at the final follow-up visit (P < .001). Conclusions. First MTPJ hemiarthroplasty is an effective treatment method that recovers toe function and first MTPJ ROM, and provides good mid- to long-term functional outcomes. Levels of Evidence: Level IV: Retrospective case series

Radiofrequency coblation for treatment of advanced laryngotracheal recurrent respiratory papillomatosis

2009 ◽  
Vol 124 (5) ◽  
pp. 510-514 ◽  
Author(s):  
A S Carney ◽  
A S Evans ◽  
S Mirza ◽  
A Psaltis
Keyword(s):  
Surgical Treatment ◽  
Case Series ◽  
Recurrent Respiratory Papillomatosis ◽  
Adult Patients ◽  
Treatment Modalities ◽  
Attractive Alternative ◽  
Alternative Technique ◽  
Retrospective Case ◽  
Retrospective Case Series ◽  
Laser Vaporisation

AbstractBackground:A variety of treatment modalities are currently used to treat recurrent respiratory papillomatosis. We aimed to study the efficacy of radiofrequency cold ablation (coblation) for the treatment of laryngotracheal recurrent respiratory papillomatosis, by comparing treatment intervals for coblation and CO2 laser vaporisation.Method:Retrospective case series of adult patients with advanced laryngotracheal recurrent respiratory papillomatosis.Results:Six patients were treated for at least two years by CO2 laser vaporisation with or without intralesional cidofovir. All six subsequently underwent treatment with radiofrequency coblation with or without intralesional cidofovir. Coblation resulted in longer periods between interventions, compared with CO2 laser (p = 0.03).Conclusion:Radiofrequency coblation appears to be an attractive alternative technique to CO2 laser for the surgical treatment of advanced laryngotracheal papillomata.

scholarly journals Oral health of patients suffering from end-stage solid organ insufficiency prior to solid organ re-transplantation: a retrospective case series study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tobias Moest ◽  
Rainer Lutz ◽  
Arne Eric Jahn ◽  
Katharina Heller ◽  
Mario Schiffer ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Surgical Intervention ◽  
Case Series ◽  
Solid Organ ◽  
Transplant Recipients ◽  
Retrospective Case ◽  
Treatment Need ◽  
Case Series Study ◽  
Series Study ◽  
Radiological Examinations

Abstract Background The oral health of organ transplanted patients before organ re-transplantation is largely unknown. This retrospective clinical study evaluates the necessity for intraoral surgical intervention and/or conservative treatment in candidates awaiting organ re-transplantation, both for graft failure and for reasons of another upcoming solid organ transplantation (renal or non-renal). Methods From January 2015 to March 2020 n = 19 transplant recipients in evaluation on the waiting list for solid organ re-transplantation could be included in the retrospective case series study. Using clinical and radiological examinations, necessity for oral surgical or conservative dental treatment was evaluated. On the basis of anamnesis data, current kidney function, renal replacement treatment (RRT), and medication, a risk profile for several patient subgroups was created. Results The clinical and radiological examinations showed a conservative and/or surgical treatment need in n = 13 cases (68.42%). In n = 7 cases (36.84%) surgical intervention was recommended due to residual root remnants (n = 5), unclear mucosal changes (n = 1), and periimplantitis (n = 1). In n = 16 recipients (84.2%) RRT (n = 15 hemodialysis; n = 1 peritoneal dialysis) had been performed. N = 14 recipients (73.68%) received immunosuppressants. In n = 1 patient (5.3%) displayed intraoral and n = 4 patients (21.1%) extraoral neoplasms due to drug-induced immunosuppression. Conclusions Solid organ transplant recipients with renal failure present a complex treatment profile due to a double burden of uremia plus immunosuppressants. In cases of surgical treatment need a hospitalized setting is recommended, where potentially necessary follow-up care and close cooperation with disciplines of internal medicine is possible in order to avoid surgical and/or internal complications.

scholarly journals Pompe disease, a storage cardiomyopathy

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Tiziana Felice
Keyword(s):  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Treatment Options ◽  
Premature Death ◽  
Glycogen Storage Disease Type ◽  
Lysosomal Storage ◽  
Respiratory Compromise ◽  
Enzyme Replacement ◽  
Geographical Regions

Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to mutations in the GAA gene. There are several known pathogenic variants, some of which are particularly common in certain geographical regions. Pompe disease is a single disease exhibiting a heterogeneous clinical spectrum depending on the extent of enzyme deficiency, the age of onset, the progression of the disease and the degree of organ involvement. It may lead to muscle weakness, hypotonia, respiratory compromise and premature death. Pompe disease is classically divided into two forms, infantile and late-onset disease. The infantile form is further subdivided into classical and non-classical subtypes. Cardiac involvement is particularly seen in the infantile phenotype of the condition, presenting as severe cardiomyopathy associated with conduction abnormalities. Enzyme replacement therapy with recombinant human acid α-glucosidase is the approved treatment option for patients with this metabolic condition. Further research is currently being done to explore more treatment options. One must keep in mind other metabolic and mitochondrial conditions, which may give a similar cardiac and neurological clinical picture.

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