scholarly journals Dominantly Inherited Ataxias in Portugal

Author(s):  
L. Cunha ◽  
A. Gonçalves ◽  
M. Dinis ◽  
C. Oliveira ◽  
M. Ferro ◽  
...  

ABSTRACT:We analysed the clinical features of 82 patients with dominantly inherited ataxia in a cohort survey. All patients fulfilled the diagnostic criteria for Machado-Joseph disease. The mean age of onset of symptoms was 39.8 (± 12.5) years and the duration of the disease was 9.2 (± 6.7) years. Ataxia, peripheral neuropathy, and fasciculation scores correlated with age of onset and duration of disease. Upper motor neuron scores failed to correlate with age of onset. In a follow-up study we analysed the clinical data of 46 patients two years after the first examination. A paired ttest was used to compare differences between observations. The results are in agreement with those of the cross-section in time, suggesting a deterioration of the symptoms with the evolution of the disease. We conclude that dynamic definition of the disease according to age of onset and duration of symptoms is preferable to subdivision into classical types.

2019 ◽  
Vol 58 (05) ◽  
pp. 371-378
Author(s):  
Alfred O. Ankrah ◽  
Ismaheel O. Lawal ◽  
Tebatso M.G. Boshomane ◽  
Hans C. Klein ◽  
Thomas Ebenhan ◽  
...  

Abstract 18F-FDG and 68Ga-citrate PET/CT have both been shown to be useful in the management of tuberculosis (TB). We compared the abnormal PET findings of 18F-FDG- and 68Ga-citrate-PET/CT in patients with TB. Methods Patients with TB on anti-TB therapy were included. Patients had a set of PET scans consisting of both 18F-FDG and 68Ga-citrate. Abnormal lesions were identified, and the two sets of scans were compared. The scan findings were correlated to the clinical data as provided by the attending physician. Results 46 PET/CT scans were performed in 18 patients, 11 (61 %) were female, and the mean age was 35.7 ± 13.5 years. Five patients also had both studies for follow-up reasons during the use of anti-TB therapy. Thirteen patients were co-infected with HIV. 18F-FDG detected more lesions than 68Ga-citrate (261 vs. 166, p < 0.0001). 68Ga-citrate showed a better definition of intracerebral lesions due to the absence of tracer uptake in the brain. The mean SUVmax was higher for 18F-FDG compared to 68Ga-citrate (5.73 vs. 3.01, p < 0.0001). We found a significant correlation between the SUVmax of lesions that were determined by both tracers (r = 0.4968, p < 0.0001). Conclusion Preliminary data shows 18F-FDG-PET detects more abnormal lesions in TB compared to 68Ga-citrate. However, 68Ga-citrate has better lesion definition in the brain and is therefore especially useful when intracranial TB is suspected.


PEDIATRICS ◽  
1991 ◽  
Vol 87 (2) ◽  
pp. 138-140
Author(s):  
Steven D. Blatt ◽  
Bruce M. Rosenthal ◽  
Douglas C. Barnhart

The diagnostic utility of lower extremity radiographs was evaluated using 84 outpatients 1 to 5 years of age with gait disturbance whose lower extremities appeared physically normal. Chief complaints included limp (65 children [77%]), refusal to walk or stand (37 children [44%]), and frequent falling (6 children [7%]). A total of 43 children (51%) had more than one complaint. The mean age of patients was 26 months and the median duration of symptoms was 1 day. Trauma was reported in 43 (51%) cases and fever in 14 (17%). Results of radiographical studies appeared normal in 81 children (96%), demonstrated soft tissue swelling in 2 children, and revealed a bony island in 1 child. In 1 patient admitted to the hospital for failure to thrive and irritability, and whose radiographic results appeared normal, findings consistent with osteomyelitis later developed. Of the remaining children, 68 (81%) were available for follow-up observation 4 to 28 months after the initial visit and all reported spontaneous resolution of the initial complaint. It was concluded that in a well-appearing child with an otherwise normal physical examination results, an acute gait disturbance is likely to be a self-limiting condition and radiographs are unlikely to contribute to the diagnosis.


1972 ◽  
Vol 37 (1) ◽  
pp. 113-117 ◽  
Author(s):  
Hedda Aufricht

A recent development in hearing aids, the contralateral routing of signals (CROS), makes it possible to provide amplification for persons with unilateral hearing loss. In 1967, a CROS eyeglass hearing aid was placed on government contract and made available to veterans. To study the efficiency of the CROS, a follow-up questionnaire was sent to 60 male veterans who had been fitted with this aid. All had demonstrated unilateral hearing losses, and the mean threshold for the speech frequencies (500–2000 Hz) in the good ear was 24 dB. The 54 replies (90%) indicated that 85% wore the aid, liked it, and derived benefit from it; 15% neither liked nor wore the aid. The CROS appeared to be most helpful in listening to conversational speech and at work, and most disturbing in a noisy environment. The complaints about the aid fell into major categories: 33% objected to its poor fit and construction and 11% were disturbed by speech distortion. The CROS aid has been a useful addition to the hearing-aid stock at the clinic reported here. It has expanded the program by providing amplification to veterans who could not be fitted with the conventional stock of aids.


2009 ◽  
Vol 113 (2-3) ◽  
pp. 226-232 ◽  
Author(s):  
Sebastian Köhler ◽  
Margriet van der Werf ◽  
Brian Hart ◽  
Gary Morrison ◽  
Robin McCreadie ◽  
...  

Author(s):  
Fadil Gradica ◽  
Lutfi Lisha ◽  
Dhimitraq Argjiri ◽  
Fahri Kokici ◽  
Alma Cani ◽  
...  

Background: Bronchiectasis is usually caused by pulmonary infections and bronchial obstructions. It is still a serious problem in developing countries, as our country. We reviewed the morbidity and mortal-ity rates and outcomes of bronchiectasis surgical treatment. Patients and methods: Between years 2000 and 2016, one hundred and seven (107) patients, sixty nine (69) of whom female and thirty eight (38) male underwent pulmonary resection for bronchiecta-sis. The mean age was 35years (range, 13–66 years). Mean duration of symptoms was 12 years. Results: Symptoms were copious amount of purulent sputum in 84 patients, expectoration of foul-smelling sputum in 72, haemoptysis in 21 and cough in all patients. The indications for pulmonary resection were: medical therapy failure in eighty two (82) patients, massive haemoptysis in eighteen and lung abscess in seven (7) patients. The disease was bilateral in twenty seven (27) patients and mainly confined in the lower lobe. Eighty six (86) patients had a lobectomy, 7 had a segmentectomy, two patients right pneumonectomy. Operative morbidity was seen in 47 patients (43.9 %) and mor-tality in two (2) patients. Follow-up was complete in 97 patients with a mean of 5 years. Overall, 78 patients were asymptomatic after surgical treatment; symptoms were improved in 24, and unchanged or worse in 5. Conclusions: Surgical treatment of bronchiectasis is more effective in patient with localized disease. It is satisfactory with acceptable ratio of morbidity and mortality.


2018 ◽  
Vol 21 (5) ◽  
pp. 449-455 ◽  
Author(s):  
Julio D. Montejo ◽  
Joaquin Q. Camara-Quintana ◽  
Daniel Duran ◽  
Jeannine M. Rockefeller ◽  
Sierra B. Conine ◽  
...  

OBJECTIVELumbar disc herniation (LDH) in the pediatric population is rare and exhibits unique characteristics compared with adult LDH. There are limited data regarding the safety and efficacy of minimally invasive surgery (MIS) using tubular retractors in pediatric patients with LDH. Here, the outcomes of MIS tubular microdiscectomy for the treatment of pediatric LDH are evaluated.METHODSTwelve consecutive pediatric patients with LDH were treated with MIS tubular microdiscectomy at the authors’ institution between July 2011 and October 2015. Data were gathered from retrospective chart review and from mail or electronic questionnaires. The Macnab criteria and the Oswestry Disability Index (ODI) were used for outcome measurements.RESULTSThe mean age at surgery was 17 ± 1.6 years (range 13–19 years). Seven patients were female (58%). Prior to surgical intervention, 100% of patients underwent conservative treatment, and 50% had epidural steroid injections. Preoperative low-back and leg pain, positive straight leg raise, and myotomal leg weakness were noted in 100%, 83%, and 67% of patients, respectively. The median duration of symptoms prior to surgery was 9 months (range 1–36 months). The LDH level was L5–S1 in 75% of patients and L4–5 in 25%. The mean ± SD operative time was 90 ± 21 minutes, the estimated blood loss was ≤ 25 ml in 92% of patients (maximum 50 ml), and no intraoperative or postoperative complications were noted at 30 days. The median hospital length of stay was 1 day (range 0–3 days). The median follow-up duration was 2.2 years (range 0–5.8 years). One patient experienced reherniation at 18 months after the initial operation and required a second same-level MIS tubular microdiscectomy to achieve resolution of symptoms. Of the 11 patients seen for follow-up, 10 patients (91%) reported excellent or good satisfaction according to the Macnab criteria at the last follow-up. Only 1 patient reported a fair level of satisfaction by using the same criteria. Seven patients completed an ODI evaluation at the last follow-up. For these 7 patients, the mean ODI low-back pain score was 19.7% (SEM 2.8%).CONCLUSIONSTo the authors’ knowledge, this is the longest outcomes study and the largest series of pediatric patients with LDH who were treated with MIS microdiscectomy using tubular retractors. These data suggest that MIS tubular microdiscectomy is safe and efficacious for pediatric LDH. Larger prospective cohort studies with longer follow-up are needed to better evaluate the long-term efficacy of MIS tubular microdiscectomy versus other open and MIS techniques for the treatment of pediatric LDH.


2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
K Noureldin ◽  
A Ayantunde ◽  
M Elkholy ◽  
H S Shah Heer Shah ◽  
A Hatim

Abstract Introduction Appendectomy is associated with complications and negative appendicectomy. We evaluated the rate and predictors of NAR in a cohort. Method Patients' data who underwent emergency appendicectomies over a year was analysed. A definition of NA; absence of inflammatory cells in the appendix. The NAR was calculated using (NAR-SDC) and (NAR-STC). Leucocytosis was a total WBC &gt;11000/mm3, elevated CPR &gt;5 mg/L. Results 372 patients were included. Median durations of symptoms 2 days. The mean admission WBC, CRP and serum bilirubin levels were 12,600 (3000-38000)/mm3, 66.9 (1-323) mg/L and 12.7 (4-38) µmol/L respectively. Laparoscopic appendectomy was performed in 93.5% with a conversion rate of 4.6%.NAR-SDC was 10.2% and NAR-STC was 25.8%. NAR was higher in females than males (39.4% versus 11.1%; p-value 0.0001). Patients with NA were younger (p-value 0.0001), had lower WBC (p-value 0.014), CRP (p-value 0.0001) levels on admission. Female gender, duration of symptoms more than 3 days, lower WBC were found to be predictors of NAR. Conclusions NA is a problem in management of patients with acute right lower abdominal pain. Our NAR compared favourably with reported rates. Female gender, symptoms more than 3 days, lower WBC were predictors of NA.


1989 ◽  
Vol 98 (10) ◽  
pp. 777-779 ◽  
Author(s):  
Nobuhiko Isshiki ◽  
Hisayoshi Kojima ◽  
Tatsuzo Taira ◽  
Kazuhiko Shoji

Among thyroplasties, type I is the most frequently used for medialization of the vocal cord. Follow-up study on patients indicated that reversion of voice can occur after operation. Revision was done in five cases with improvement of voice. On the basis of this experience, modifications were made in the technique of thyroplasty type I. They include 1) cutting the calcified cartilage with minimal intervention in the soft tissue, 2) fixation of the window with a silicone plug to enhance medialization, and 3) overmedialization of the vocal cord and definition of criteria for it that can be used during surgery.


2014 ◽  
Vol 72 (1) ◽  
pp. 49-54 ◽  
Author(s):  
Aluizio Augusto Arantes Júnior ◽  
Geraldo Alves da Silva Junior ◽  
José Augusto Malheiros ◽  
Fernando Flavio Gonçalves ◽  
Marcelo Magaldi ◽  
...  

The laminoplasty technique was devised by Hirabayashi in 1978 for patients diagnosed with multilevel cervical spondylotic myelopathy. Objective: To describe an easy modification of Hirabayashi’s method and present the clinical and radiological results from a five-year follow-up study. Method and Results: Eighty patients had 5 levels of decompression (C3-C7), 3 patients had 6 levels of decompression (C2-T1) and 3 patients had 4 levels of decompression (C3-C6). Foraminotomies were performed in 23 cases (27%). Following Nurick`s scale, 76 patients (88%) improved, 9 (11%) had the same Nurick grade, and one patient worsened and was advised to undergo another surgical procedure. No deaths were observed. The mean surgery time was 122 min. Radiographic evaluation showed an increase in the mean sagittal diameter from 11.2 mm at pretreatment to 17.3 mm post surgery. There was no significant difference between pretreatment and post-surgery C2-C7 angles. Conclusions: This two-open-doors laminoplasty technique is safe, easy and effective and can be used as an alternative treatment for cases of multilevel cervical spondylotic myelopathy without instability.


2013 ◽  
Vol 118 (4) ◽  
pp. 884-888 ◽  
Author(s):  
Si Zhang ◽  
Xiang Wang ◽  
Xuesong Liu ◽  
Yan Ju ◽  
Xuhui Hui

Object The authors retrospectively analyzed data on brainstem gangliogliomas treated in their department and reviewed the pertinent literature to foster understanding of the preoperative characteristics, management, and clinical outcomes of this disease. Methods In 2006, the authors established a database of treated lesions of the posterior fossa. The epidemiology findings, clinical presentations, radiological investigations, pathological diagnoses, management, and prognosis for brainstem gangliogliomas were retrospectively analyzed. Results Between 2006 and 2012, 7 patients suffering from brainstem ganglioglioma were treated at the West China Hospital of Sichuan University. The mean age of the patients, mean duration of symptoms prior to diagnosis, and mean duration of follow-up were 28.6 years, 19.4 months, and 38.1 months, respectively. The main presentations were progressive cranial nerve deficits and cerebellar signs. Subtotal resection was achieved in 2 patients, and partial resection in 5. All tumors were pathologically diagnosed as WHO Grade I or II ganglioglioma. Radiotherapy and adjuvant chemotherapy were not administered. After 21–69 months of follow-up, patient symptoms were resolved or stable without aggravation, and MRI showed that the size of residual lesions was unchanged without progression or recurrence. Conclusions The diagnosis of brainstem ganglioglioma is of great importance given its favorable prognosis. The authors recommend the maximal safe resection followed by close observation without adjuvant therapy as the optimal treatment for this disease.


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