Active Finger Extension

Background and Purpose—Early prognosis of arm recovery is a major clinical issue in stroke. The aim of this study was to assess the prognostic value of 4 simple bedside tests.Methods—Forty-eight patients with arm paresis/plegia were evaluated on days 7, 14, 30, 90 and 180 after stroke. Assessment included 4 potential predictors of arm recovery (active finger extension, shoulder abduction, shoulder shrug and hand movement scales) and 3 outcome measures evaluating arm function (Nine Hole Peg Test, Fugl-Meyer arm subtest, Motricity Index arm subtest).Results—The active finger extension scale was the most powerful prognostic factor. Patients with active finger extension scores >3 had a high probability of achieving good performance as assessed by the Motricity Index.Conclusions—Active finger extension is a reliable early predictor of recovery of arm function in stroke patients

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

PET/CT scan in traumatic brain injury: a new frontier for the prognosis from cerebellum activity?

[no abstract available

Veneto Hospitals. The Spinal Unit i...

The Spinal Unit of the General Hospital of Vicenza (VGH) admits patients with Spinal Cord Injury (SCI) after discharge from Neurosurgery and Reanimation Divisions of Veneto Hospitals. The Conus-Cauda Equina syndrome is characterized by bladder and intestines areflexia, pelvic and legs flaccid paralysis and anesthesia. This “rare disease ” affects mainly adults and the most common etiology is traumatic lumbar slipped disc. Demographic data, etiology, the need of surgery, duration of hospitalization, bladder managements, and mobility at admission and discharge were revisited in 159 stories of SCI patients at their first admission to the Spinal Unit of VGH from January 1, 2005 to June 30, 2008. In our sample the etiology was traumatic in 12 patients, non-traumatic in 7 patients. 4 and 15 patients were classified complete and incomplete lesion, respectively (ASIA Scale). Mobilty: of the 4 patients with complete lesion, at discharge 2 used only wheelchair for self transfer, 1 used common leg braces with walking aid (e.g. crutches) and 1 just one crutch. Of the 15 incomplete-lesions, at the discharge 10 did not need wheelchair for transfer: among them 2 used walker (1 with leg braces); 4 used walking aids (2 with leg brace);

Obstetric outcomes in patients treated for deep pelvic endometriosis

Purpose: The aim of this study was to assess obstetric outcomes and symptoms during and after pregnancy in women submitted to surgical treatment for deep pelvic endometriosis. Methods: We evaluated 123 women who underwent surgery for severe deep pelvic endometriosisrelated symptoms. Interventions were excision of rectovaginal septum nodule with or without rectal or vaginal resection, or excision of nodule of uterosacral ligaments. On the basis of pregnancy desire, patients were submitted to a telephone interview and asked if there had been a pregnancy and its outcome. They were also asked to describe their pain symptoms before, after and during the pregnancy. Results: From the 123 patients, we selected 43 women desiring pregnancy after surgery, who answered the telephone interview. Twenty-four patients (55.8%) got pregnant. We recorded 34 pregnancies a mean 21.8 \ub1 17.9 months after surgery. In the group of 25 full-term pregnancies, 14 women (56%) had a vaginal delivery without complications, and 11 (44%) underwent a cesarean section. In only 3 cases, was the indication of cesarean section related to previous surgery. Seventy-one percent of women treated without rectal or vaginal resection delivered vaginally. We also registered 1 case of uncomplicated vaginal delivery in a patient with vaginal resection and another 1 in a patient with rectal resection. In the patients who complained of pain before pregnancy, we observed a resolution of pain symptoms during pregnancy, but after delivery these symptoms reappeared. Conclusions: In patients submitted to surgery for deep pelvic endometriosis, even in cases of vaginal or rectal resection, a cesarean section is not always mandatory

Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995–2009

Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose populationspecific patterns and their temporal changes. This is a population-based incidence and prevalence study in northern and central Sardinia, insular Italy (over 700,000 population). Incidence rates were computed for the time interval 1995–2009 and by quinquennia. Prevalence was computed for prevalence days 31 December 2004 and 2009. Onset-based survival for 1995–2009 is also reported. All ALS patients (El Escorial Criteria) in the study area were retrospectively included. The ALS crude incidence from 2005–2009 was 2.5 (95 % CIs: 0.1, 4.9), 3.4 in men and 1.6 in women. Onset occurred most often between the age of 65–74 years in men and 55–64 years in women. The ALS incidence tended to increase over the period 1995–2009. The mean age at onset was 61.7 years with no difference based on gender, varying significantly from 59.9 years in 1995–1999 to 63.9 years in 2005–2009. On December 31, 2009, the ALS crude prevalence was 10.8 per 100,000 (95 % CIs: 8.6, 13.1), 13.8 in men and 8.0 in women, whereas it was 6.3 per 100,000 (95 % CIs: 4.1, 8.6) on December 31, 2004 (M:F ratio of 0.95). Mean survival from onset was 37.0 months, with no difference based on gender, and a tendency to decrease during the period 1995–2009, in relation to type and age of onset. The population-based incidence and prevalence data of ALS in Sardinians indicate an increase of the disease occurrence over the past 40 years, providing support for a populationspecific variant of ALS in Sardinia