Abstract Background Due to the potential of human papillomavirus (HPV) vaccination for decreasing cervical cancer rates in Mainland China, where some of the highest incidences in the world have been reported , our study aimed to assess HPV and HPV vaccine knowledge, and to evaluate the effect of a brief educational intervention on HPV knowledge and vaccine acceptability in Chinese undergraduate students and employed women. Methods This multi-center, cross-sectional study was conducted across five representative cities of the five main geographical regions of Mainland China. Participants were selected from one comprehensive university and three to four companies in each city for a total of six comprehensive universities and 16 companies. A 62-item questionnaire on HPV knowledge and HPV vaccine acceptability was administered to participants before and after an educational intervention. The intervention consisted of an informative group lecture. Results A total of 1146 employed women and 557 female undergraduate students were surveyed between August and November 2011. Baseline HPV knowledge was low among both groups— 320/1146 (28%) of employed women and 66/557 (12%) of students had heard of HPV, while only 237/1146 (21%) of employed women and 40/557 (7.2%) of students knew that HPV is related to cervical cancer. After educational instruction, 947/1061 (89%) of employed women and 193/325 (59%) of students knew the relationship between HPV and cervical cancer ( χ 2 = 1041.8, p < 0.001 and χ 2 = 278.5, p < 0.001, respectively). Post-intervention, vaccine acceptability increased from 881/1146 (77%) to 953/1061 (90%), (p = <0.001) in employed women and 405/557 (73%) in students to 266/325 (82%), (p < 0.001). Women in both groups cited concerns about the HPV vaccine's safety, efficacy, and limited use to date as reasons for being unwilling to receive vaccination. 502/1146 (44%) of women were willing to vaccinate their children at baseline, which increased to 857/1061 (81%) post-intervention, p < 0.001. Conclusions Incorporation of our lecture-based education initiative into a government-sponsored or school-based program may improve HPV-related knowledge and HPV vaccine acceptability. Further studies are needed to evaluate and standardize HPV education programs in China.
International audience ; 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 ...
International audience ; 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 ...
International audience ; 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 ...
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 ...
In: Johnson , J O , Chia , R , Miller , D E , Li , R , Kumaran , R , Abramzon , Y , Alahmady , N , Renton , A E , Topp , S D , Gibbs , J R , Cookson , M R , Sabir , M S , Dalgard , C L , Troakes , C , Jones , A R , Shatunov , A , Iacoangeli , A , Al Khleifat , A , Ticozzi , N , Silani , V , Gellera , C , Blair , I P , Dobson-Stone , C , Kwok , J B , Bonkowski , E S , Palvadeau , R , Tienari , P J , Morrison , K E , Shaw , P J , Al-Chalabi , A , Brown , R H , Calvo , A , Mora , G , Al-Saif , H , Gotkine , M , Leigh , F , Chang , I J , Perlman , S J , Glass , I , Scott , A I , Shaw , C E , Basak , A N , Landers , J E , Chiò , A , Crawford , T O , Smith , B N , Traynor , B J , Smith , B N , Ticozzi , N , Fallini , C , Gkazi , A S , Topp , S D , Scotter , E L , Kenna , K P , Keagle , P , Tiloca , C , Vance , C , Troakes , C , Colombrita , C , King , A , Pensato , V , Castellotti , B , Baas , F , Ten Asbroek , A L M A , McKenna-Yasek , D , McLaughlin , R L , Polak , M , Asress , S , Esteban-Pérez , J , Stevic , Z , D'Alfonso , S , Mazzini , L , Comi , G P , Del Bo , R , Ceroni , M , Gagliardi , S , Querin , G , Bertolin , C , Van Rheenen , W , Rademakers , R , Van Blitterswijk , M , Lauria , G , Duga , S , Corti , S , Cereda , C , Corrado , L , Sorarù , G , Williams , K L , Nicholson , G A , Blair , I P , Leblond-Manry , C , Rouleau , G A , Hardiman , O , Morrison , K E , Veldink , J H , Van Den Berg , L H , Al-Chalabi , A , Pall , H , Shaw , P J , Turner , M R , Talbot , K , Taroni , F , García-Redondo , A , Wu , Z , Glass , J D , Gellera , C , Ratti , A , Brown , R H , Silani , V , Shaw , C E , Landers , J E , Dalgard , C L , Adeleye , A , Soltis , A R , Alba , C , Viollet , C , Bacikova , D , Hupalo , D N , Sukumar , G , Pollard , H B , Wilkerson , M D , Martinez , E M G , Abramzon , Y , Ahmed , S , Arepalli , S , Baloh , R H , Bowser , R , Brady , C B , Brice , A , Broach , J , Campbell , R H , Camu , W , Chia , R , Cooper-Knock , J , Ding , J , Drepper , C , Drory , V E , Dunckley , T L , Eicher , J D , England , B K , Faghri , F , Feldman , E , Floeter , M K , Fratta , P , Geiger , J T , Gerhard , G , Gibbs , J R , Gibson , S B , Glass , J D , Hardy , J , Harms , M B , Heiman-Patterson , T D , Hernandez , D G , Jansson , L , Kirby , J , Kowall , N W , Laaksovirta , H , Landeck , N , Landi , F , Le Ber , I , Lumbroso , S , Macgowan , D J L , Maragakis , N J , Mora , G , Mouzat , K , Murphy , N A , Myllykangas , L , Nalls , M A , Orrell , R W , Ostrow , L W , Pamphlett , R , Pickering-Brown , S , Pioro , E P , Pletnikova , O , Pliner , H A , Pulst , S M , Ravits , J M , Renton , A E , Rivera , A , Robberecht , W , Rogaeva , E , Rollinson , S , Rothstein , J D , Scholz , S W , Sendtner , M , Shaw , P J , Sidle , K C , Simmons , Z , Singleton , A B , Smith , N , Stone , D J , Tienari , P J , Troncoso , J C , Valori , M , Van Damme , P , Van Deerlin , V M , Van Den Bosch , L , Zinman , L , Landers , J E , Chiò , A , Traynor , B J , Angelocola , S M , Ausiello , F P , Barberis , M , Bartolomei , I , Battistini , S , Bersano , E , Bisogni , G , Borghero , G , Brunetti , M , Cabona , C , Calvo , A , Canale , F , Canosa , A , Cantisani , T A , Capasso , M , Caponnetto , C , Cardinali , P , Carrera , P , Casale , F , Chiò , A , Colletti , T , Conforti , F L , Conte , A , Conti , E , Corbo , M , Cuccu , S , Dalla Bella , E , D'Errico , E , Demarco , G , Dubbioso , R , Ferrarese , C , Ferraro , P M , Filippi , M , Fini , N , Floris , G , Fuda , G , Gallone , S , Gianferrari , G , Giannini , F , Grassano , M , Greco , L , Iazzolino , B , Introna , A , La Bella , V , Lattante , S , Lauria , G , Liguori , R , Logroscino , G , Logullo , F O , Lunetta , C , Mandich , P , Mandrioli , J , Manera , U , Manganelli , F , Marangi , G , Marinou , K , Marrosu , M G , Martinelli , I , Messina , S , Moglia , C , Mora , G , Mosca , L , Murru , M R , Origone , P , Passaniti , C , Petrelli , C , Petrucci , A , Pozzi , S , Pugliatti , M , Quattrini , A , Ricci , C , Riolo , G , Riva , N , Russo , M , Sabatelli , M , Salamone , P , Salivetto , M , Salvi , F , Santarelli , M , Sbaiz , L , Sideri , R , Simone , I , Simonini , C , Spataro , R , Tanel , R , Tedeschi , G , Ticca , A , Torriello , A , Tranquilli , S , Tremolizzo , L , Trojsi , F , Vasta , R , Vacchiano , V , Vita , G , Volanti , P , Zollino , M & Zucchi , E 2021 , ' Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis ' , JAMA neurology . https://doi.org/10.1001/jamaneurol.2021.2598
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.
