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1.
Zhonghua Er Ke Za Zhi ; 57(5): 368-372, 2019 May 02.
Artigo em Chinês | MEDLINE | ID: mdl-31060130

RESUMO

Objective: To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation. Methods: The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized. Results: The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a de novo heterozygous variation c.524A>G (p.D175G) in CSNK2A1 gene. This was the first case report of CSNK2A1 gene variation in the mainland of China. So far, a total of 52 cases were reported worldwide (52 single nucleotide variants), including 35 cases in 7 articles, 9 cases in Decipher database and 14 cases in ClinVar database, 6 of which were also reported in PubMed. In previously reported 52 cases, there were 48 missense variants, whereas, splice and frameshift variations were found in 3 cases and 1 case, respectively. Among the variation sites, p.K198R was the most common sites (12 cases), followed by p.R47 (6 cases), p.R80H (4 cases) and p.S51 (4 cases). Among these 52 cases, only 27 cases have been elaborately described in other studies, so the clinical characteristics were summarized in 28 cases eventually (including 27 cases in the articles and this patient), 27 of whom presented severe intellectual disability or global development delay, 1 case with mild language development delay, and 19 had hypotonia; 8 had autism spectrum disorders, 5 had attention deficit hyperactivity disorder, and 9 had sleep problems. 20 had dysmorphic facial features, 10 of them had microcephalus. 16 had failure to thrive or short stature, 12 had gastrointestinal or oromotor problem, 5 had immunological problem, and 4 had skin abnormalities. Conclusions: The main clinical feature of patients with CSNK2A1 gene variations is intellectual disability with multiple systems involved, such as microcephalus, abnormal facial shape and hypotonia. The variation of CSNK2A1 gene is the cause of Okur-Chung syndrome. Missense variation is the main cause, and P. K198R is the hotspot variation.


Assuntos
Deficiência Intelectual , Hipotonia Muscular , Mutação/genética , Caseína Quinase II/genética , China , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto , Síndrome , Sequenciamento Completo do Genoma
2.
Mayo Clin Proc ; 94(5): 875-881, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31054607

RESUMO

Acute flaccid myelitis (AFM) is characterized by flaccid paralysis of one or more limbs, often following a viral illness, with magnetic resonance imaging findings consistent with inflammation of the spinal cord gray matter. It is unclear whether all patients with AFM will have full recovery of neurologic function. Since 2014, there have been several clusters of AFM in the United States, with a 3-fold increase in reported AFM cases recorded in 2018 compared with the previous year. Epidemiological evidence supports a temporal association between respiratory enteroviral illness, particularly with enteroviruses D68 and A71, and clustering of AFM cases. However, causality has yet to be established. Treatment of AFM is primarily supportive. Adjunctive therapies such as intravenous immunoglobulin, corticosteroids, plasmapheresis, and fluoxetine have not been found to improve long-term outcomes. Further research is urgently needed to characterize and optimize management of this emerging, yet poorly understood, condition.


Assuntos
Infecções por Enterovirus/epidemiologia , Hipotonia Muscular/etiologia , Mielite/etiologia , Doença Aguda , Enterovirus Humano D , Infecções por Enterovirus/líquido cefalorraquidiano , Infecções por Enterovirus/diagnóstico , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Hipotonia Muscular/virologia , Mielite/virologia , Paralisia , Medula Espinal/diagnóstico por imagem , Estados Unidos/epidemiologia
3.
J Genet ; 982019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30945686

RESUMO

This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). This deletion leads to a frameshift and a premature termination signal much upstream of the wild-type termination signal, leading to a nonsense mediated decay of the mRNA. CUL7 protein plays an important role in formation of 3M complex, ubiquitination, microtubule dynamics and cell cycle regulation. Mutations in CUL7 gene is known to cause a rare 3M syndrome. Information about the novel mutation has been accepted in the ClinVar database with rs1064792895.


Assuntos
Proteínas Culina/genética , Nanismo/genética , Nanismo/patologia , Hipotonia Muscular/genética , Hipotonia Muscular/patologia , Mutação , Coluna Vertebral/anormalidades , Criança , Pré-Escolar , Consanguinidade , Feminino , Humanos , Masculino , Prognóstico , Irmãos , Coluna Vertebral/patologia
4.
Int J Paediatr Dent ; 29(5): 677-682, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30980693

RESUMO

Emanuel Syndrome (ES; OMIM# 609029) is a rare disorder caused by an unbalanced chromosomal translocation [supernumerary der(22)t(11,22)] and characterized by multiple congenital abnormalities. With limited published cases and low prevalence (1:110 000), detailed ES-associated oro-dental findings have not previously been reported. This is a case report of a 14-year-old boy with ES who presented with congenital cardiac, renal, auditory, musculoskeletal problems, and global developmental delay. The patient was managed with risperidone, melatonin, omeprazole, guanfacine, and oxcarbazepine. Anxiety-associated self-injurious behaviour was seen along with stereotypic hand movements. Consistent with previous reports, microcephaly and micrognathia were noted. Oro-facial cleft or gross asymmetry, however, was not observed. Significant oro-dental findings included delayed eruption of primary and permanent teeth, oligodontia (two erupted and five unerupted permanent teeth), and short-root anomaly of central incisors. The patient demonstrated anxiety-triggered bruxism with generalized attrition. This case report provides a comprehensive list of systemic ES findings along with oro-dental manifestations, which have previously not been reported in detail.


Assuntos
Transtornos Cromossômicos , Fissura Palatina , Deficiência Intelectual , Adolescente , Cardiopatias Congênitas , Humanos , Masculino , Hipotonia Muscular
5.
Plast Reconstr Surg ; 143(5): 1060e-1071e, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31033832

RESUMO

BACKGROUND: Masseteric- or deep temporal-to-facial nerve transfer (five-to-seven nerve transfer) is increasingly used in facial reanimation; however, the indications and clinical variables affecting outcomes for five-to-seven nerve transfer have not been defined. The authors describe their early experience with five-to-seven nerve transfer, reporting function and patient-reported outcomes, to identify potential parameters that are predictive of outcome. METHODS: The authors conducted a retrospective chart review of all patients who underwent five-to-seven nerve transfer for smile reanimation from 2012 to 2017. Age, sex, cause of facial paralysis, onset and duration of paralysis, history of adjuvant chemotherapy and/or radiation therapy, donor nerve used, adjunctive procedures, and final excursion were recorded. Standard photographs and videos, and data regarding clinical facial nerve function and patient-reported quality of life, were obtained preoperatively and postoperatively. RESULTS: Sixty patients were identified. Forty-seven had flaccid facial paralysis and 13 had postparalysis facial palsy. Among flaccid facial paralysis patients, masseteric nerve transfer was successful in 30 patients (88 percent) and deep temporal nerve transfer was successful in three cases (60 percent). Among postparalysis facial palsy patients, five-to-seven nerve transfer was successful in two patients (20 percent). Average quality-of-life scores improved significantly from preoperatively (46) to postoperatively (59) among flaccid facial paralysis patients with successful five-to-seven nerve transfer. CONCLUSIONS: Five-to-seven nerve transfer is a viable option in facial reanimation. Shorter denervation times and preoperative flaccidity are favorable predictors of outcome. Five-to-seven nerve transfer as an adjunct to primary repair appears highly effective for enhancing smile function. Five-to-seven nerve transfer results are not reliable in patients with postparalysis facial palsy. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Nervo Facial/cirurgia , Paralisia Facial/cirurgia , Transferência de Nervo/métodos , Sorriso , Nervo Trigêmeo/cirurgia , Adulto , Face/inervação , Face/cirurgia , Músculos Faciais/inervação , Músculos Faciais/cirurgia , Nervo Facial/patologia , Paralisia Facial/complicações , Feminino , Seguimentos , Humanos , Masculino , Músculo Masseter/inervação , Músculo Masseter/cirurgia , Hipotonia Muscular/etiologia , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
6.
Genome Med ; 11(1): 24, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31014384

RESUMO

The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.


Assuntos
Deficiência Intelectual , Síndrome de Smith-Magenis , Humanos , Hipotonia Muscular , Mutação , Fenótipo , Fatores de Transcrição/genética
7.
Genome Med ; 11(1): 12, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30819258

RESUMO

BACKGROUND: Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). METHODS: Genome-wide analyses by exome sequencing (ES) and chromosomal microarray analysis (CMA) identified individuals with heterozygous, likely damaging, loss-of-function alleles in TCF20. We implemented further molecular and clinical analyses to determine the inheritance of the pathogenic variant alleles and studied the spectrum of phenotypes. RESULTS: We report 25 unique inactivating single nucleotide variants/indels (1 missense, 1 canonical splice-site variant, 18 frameshift, and 5 nonsense) and 4 deletions of TCF20. The pathogenic variants were detected in 32 patients and 4 affected parents from 31 unrelated families. Among cases with available parental samples, the variants were de novo in 20 instances and inherited from 4 symptomatic parents in 5, including in one set of monozygotic twins. Two pathogenic loss-of-function variants were recurrent in unrelated families. Patients presented with a phenotype characterized by developmental delay, intellectual disability, hypotonia, variable dysmorphic features, movement disorders, and sleep disturbances. CONCLUSIONS: TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. Together with previously described cases, the clinical entity of TCF20-associated neurodevelopmental disorders (TAND) emerges from a genotype-driven perspective.


Assuntos
Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Mutação INDEL , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Síndrome de Smith-Magenis/genética , Fatores de Transcrição/genética , Adolescente , Criança , Pré-Escolar , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/patologia , Feminino , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Hipotonia Muscular/patologia , Síndrome de Smith-Magenis/patologia , Fatores de Transcrição/metabolismo , Adulto Jovem
8.
Medicine (Baltimore) ; 98(8): e14524, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30813157

RESUMO

RATIONALE: Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear diagnosis. There have been previous reports of variants in the phosphatidylinositol glycan anchor biosynthesis class T (PIGT) gene associated with multiple congenital anomalies, with a total of 14 affected individuals across 8 families. PATIENT CONCERNS: An 18-month-old boy of Greek ancestry presented with global developmental delay, generalized tonic-clonic seizures, hypotonia, renal cysts, esotropia, bilateral undescended testes, bilateral vesicoureteric reflux, marked cardiac dextroposition, bilateral talipes equinovarus, and dysmorphic features. DIAGNOSIS: WES revealed 2 compound heterozygous variants in the PIGT gene, c.[494-2A>G]; [547A>C]/p.[Asp122Glyfs*35]; [Thr183Pro]. The splicing mutation was demonstrated to lead to the skipping of exon 4. INTERVENTIONS: Seizures, infections, and other main symptoms were treated. OUTCOMES: The patient died at 2 years of age before the molecular diagnosis was achieved. Genetic counseling has been offered to the family. LESSONS: Most of the clinical features of the patient are in agreement with the previously described PIGT cases corroborating the usefulness of WES as a diagnostic tool.


Assuntos
Anormalidades Múltiplas/genética , Aciltransferases/genética , Técnicas de Cultura de Células , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Evolução Fatal , Humanos , Lactente , Masculino , Hipotonia Muscular/genética , Mutação , Reação em Cadeia da Polimerase em Tempo Real , Convulsões/genética , Síndrome , Sequenciamento Completo do Exoma/métodos
10.
MSMR ; 26(1): 17-19, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30681881

RESUMO

In August 2018, the U.S. Centers for Disease Control and Prevention (CDC) noted an increased number of reports of patients in the U.S. having symptoms clinically compatible with acute flaccid myelitis (AFM). AFM is characterized by rapid onset of flaccid weakness in one or more limbs and distinct abnormalities of the spinal cord gray matter on magnetic resonance imaging (MRI). Clinical and laboratory data suggest that AFM is associated with an antecedent viral infection. AFM may be difficult to differentiate from other causes of paralysis and, given that it is rare, has the potential to be overlooked. This case highlights important clinical characteristics of AFM and emphasizes the importance of including AFM in the differential diagnosis when evaluating active duty service members and Military Health System (MHS) beneficiaries presenting with paralysis.


Assuntos
Hipotonia Muscular/diagnóstico , Mielite/diagnóstico , Doença Aguda , Criança , Diagnóstico Diferencial , Feminino , Humanos , Família Militar , Hipotonia Muscular/complicações , Estados Unidos
11.
Am J Case Rep ; 20: 36-38, 2019 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-30622233

RESUMO

BACKGROUND 3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities. Radiographic images may show delayed bone maturation long slender tubular bones, and tall vertebral bodies. Due to the inheritance mode of 3-M syndrome disease, early diagnosis is vital for genetic counseling. CASE REPORT In this case report, we present the case of a 3-year-old male patient who was referred to our clinic for development assessment due to delayed development, particularly speech, who had clinical outcomes of 3-M syndrome. CONCLUSIONS The aim of the case report is to add this new patient to the literature on 3-M syndrome.


Assuntos
Nanismo/diagnóstico , Hipotonia Muscular/diagnóstico , Coluna Vertebral/anormalidades , Atrofia , Tronco Encefálico/patologia , Cerebelo/patologia , Pré-Escolar , Proteínas Culina/genética , Deficiências do Desenvolvimento/etiologia , Variação Genética , Homozigoto , Humanos , Masculino
13.
J Craniofac Surg ; 30(2): 363-365, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30550448

RESUMO

INTRODUCTION: Single suture craniosynostosis (SSC) and isolated cleft palate (ICP) in non-Apert syndrome patients rarely occur together. Management includes airway optimization, timing surgery appropriately, and assessing both cranial vault aesthetics and speech outcomes. The aim of this study was to compare treatment pathways and outcomes in patients with both conditions to standard treatment for these conditions in isolation. METHODS: Patient hospital medical records were retrospectively reviewed for demographic data, timing of surgery, aesthetic outcome (using the Whitaker grading system for head shape), and speech outcome (from speech therapy records of general development and speech assessment). RESULTS: Six patients with SSC and ICP were identified over an 18-year period. Cranial surgery was performed between 4 and 16 months and cleft surgery between 6 and 34 months of age in all cases. Documentation of cleft surgery and genetic testing was not available for 1 patient. One patient with hemi-palatal absence had an obturator inserted at 34 months. Two patients were found to have Fragile X and Emanuel syndrome, respectively.No increased perioperative airway risk was highlighted in any case. Four cases were designated Whitaker grade 1, 1 case was designated grade 2, and 1 case was not graded as no cranial surgery was performed. Half of the patients had general and speech developmental delay, while the other half demonstrated no signs of developmental delay. DISCUSSION/CONCLUSION: Examination of 6 patients with SSC and ICP suggests the presence of both conditions does not adversely impact management or outcome for each condition, or increase perioperative risk.


Assuntos
Anormalidades Múltiplas/cirurgia , Fissura Palatina/cirurgia , Craniossinostoses/cirurgia , Transtornos Cromossômicos , Feminino , Síndrome do Cromossomo X Frágil , Cardiopatias Congênitas , Humanos , Lactente , Deficiência Intelectual , Masculino , Hipotonia Muscular , Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos , Estudos Retrospectivos , Crânio/cirurgia , Inteligibilidade da Fala , Fonoterapia
14.
Top Stroke Rehabil ; 26(3): 163-172, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30580672

RESUMO

BACKGROUND: Previous lower-limb mirror therapy research has focused on non-weight bearing interventions. OBJECTIVES: The primary aim of this study was to investigate the effect and feasibility of a combination of mirror therapy and treadmill training on post-stroke lower-limb recovery compared to a placebo intervention. METHODS: All patients (N = 30) walked on a treadmill for 30 min per day, 3 days per week, for 4 weeks. The mirror therapy and treadmill training group (n = 15) walked on the treadmill while viewing a reflection of their non-paretic limb in a mirror positioned in their mid-sagittal plane. The placebo group (n = 15) received no mirror visual feedback due to an altered mirror position. PRIMARY OUTCOME MEASURES: Ten Metre Walk Test (10MWT) and Six Minute Walk Test (6MWT). SECONDARY OUTCOME MEASURES: Modified Ashworth Scale (MAS) and Fugl-Meyer Assessment-Lower Extremity (FMA-LE). Feasibility was appraised by examining participant compliance and any adverse events. RESULTS: No significant between group differences were demonstrated for the 10MWT, 6MWT or FMA-LE at post-training or 3-month follow-up assessment. A significant between group difference on the MAS was demonstrated in the reduction of ankle dorsiflexion muscle tone (p = 0.006) and ankle plantarflexion muscle tone (p = 0.01) in the mirror therapy group compared to the placebo group at post-training assessment but not at 3-month follow-up. CONCLUSION: Our study reveals that in our group of patients with chronic stroke, mirror therapy combined with treadmill training facilitated significant reductions in ankle muscle tone (p < 0.05) compared to a placebo intervention.


Assuntos
Terapia por Exercício/métodos , Modalidades de Fisioterapia , Reabilitação do Acidente Vascular Cerebral/métodos , Acidente Vascular Cerebral , Idoso , Retroalimentação Sensorial , Feminino , Humanos , Extremidade Inferior , Masculino , Pessoa de Meia-Idade , Hipotonia Muscular/etiologia , Hipotonia Muscular/reabilitação , Projetos Piloto , Recuperação de Função Fisiológica , Método Simples-Cego , Resultado do Tratamento , Caminhada
15.
Res Dev Disabil ; 85: 172-186, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30572148

RESUMO

BACKGROUND & AIMS: Previous research indicates that young children with a significant cognitive and motor developmental delay show low levels of interactive engagement, their parents are generally responsive towards them and these variables are positively correlated. Adapting a micro-level approach, we aim to go beyond macro-level and correlational analyses by charting the frequency, intra-individual co-occurrence and inter-individual temporal dependency of specific interactive behaviors. METHODS & PROCEDURES: Twenty-nine parent-child dyads (with children aged 6-59 months) were video-taped during a 15-minute unstructured play situation. Based on a self-developed coding scheme, interactive behaviors were coded continuously and analyzed using a three-step sequential analysis approach. OUTCOMES & RESULTS: Parents and children systematically combine either more socially-oriented or more object-oriented behaviors. Socially-oriented behaviors are less frequent in children, especially looking at and touching the partner occurs less. Socially- and object-oriented behavioral clusters are generally independent from each other and instigate/maintain the same type of behaviors in the interaction partner. While children's socially oriented behavior(al cluster)s seem to need a parental 'trigger', parents will more often independently engage with their child despite low child responsiveness. CONCLUSIONS AND IMPLICATIONS: Further intervention-oriented research is needed to confirm this study's results and translate them into concrete guidelines for parents.


Assuntos
Comportamento Infantil , Deficiências do Desenvolvimento/fisiopatologia , Deficiência Intelectual/fisiopatologia , Comportamento Materno , Transtornos das Habilidades Motoras/fisiopatologia , Relações Pais-Filho , Comportamento Paterno , Comportamento Social , Adulto , Pré-Escolar , Cognição , Contratura , Feminino , Perda Auditiva , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Hipertonia Muscular , Hipotonia Muscular , Escoliose , Transtornos da Visão
16.
BMC Public Health ; 18(Suppl 4): 1307, 2018 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-30541495

RESUMO

BACKGROUND: Nigeria is the only country in Africa that is yet to be certified as polio free. Surveillance for acute flaccid paralysis (AFP) is the foundation of the polio eradication initiative since it provides information to alert both health managers and clinician that timely actions should be initiated to interrupt transmission of the polio virus. The strategy also provides evidence for the absence of wild poliovirus. This evaluation was performed to assess key quality indicators defined by the polio eradication program and thus to identify gaps to allow planning for corrective measures to achieve a polio-free situation in Bauchi state and in Nigeria at large. We conducted a cross-sectional descriptive study which involved a desk review of documents to authenticate the correctness and completeness of data, and a review of documented evidence for the quality of AFP surveillance. We interviewed Local Government Authority (LGA) surveillance officers and clinicians from focal and non-focal sites, along with caregivers of children with AFP and community leaders. The data were entered and analyzed in a Microsoft Excel spreadsheet. METHODS: We conducted a cross-sectional study of the AFP surveillance and documentation in eighteen of the twenty Local Government Areas (LGAs) of Bauchi State. We assessed the knowledge of the clinician at focal and non-focal sites on case definition of AFP, the number and method of stool specimen collection to investigate a case and types of training received for AFP surveillance. We verified AFP case investigations for the last three years: The caregivers (mothers) were interviewed to authenticate the reported information of AFP cases, the method used for stool specimen collection and feedbacks. Community leaders' knowledge on AFP surveillance was also assessed. Data was entered and analyzed in excel spread sheet. RESULTS: Of the 18 LGA Disease Surveillance and Notification Officers (DSNOs), only 2 (11%) and 5 (28%) had reports of polio outbreak investigations and supervisory visits at the lower levels, respectively. Furthermore, only 6 (33%) and 7 (39%) of the DSNOs had minutes of meetings and surveillance work plans, respectively. Of the 31 AFP cases investigated, only 39, 26, 23, and 23% had correct and complete information for the birth day, birth month, date of onset of paralysis, and date of investigation, respectively. Seventy-one percent of the clinicians at the AFP focal sites knew the correct definition for AFP compared with only 30% at the non-focal sites. Of the 38 caregivers (mothers), 16 (42%) did not remember the day or month the AFP investigation was conducted. However, 95% gave a correct number of stool samples collected and 40% mentioned that the samples were collected 24 h apart. Feedback was not given to 26 (68%) of the caregivers. The majority (79%) of the community leaders knew how to recognize a case of AFP and knew that the stool was the specimen required for the investigation, but 21% did not know to whom they should report a case of AFP in their community. CONCLUSION: This study revealed a gap in the quality indicators for polio eradication in the state, especially regarding knowledge and documentation for AFP surveillance at the operational level. Regular training of the DSNOs and focal persons, regular sensitization of clinicians, community education, supplies of reporting tools, and ensuring their judicious use will improve AFP surveillance in the state.


Assuntos
Erradicação de Doenças , Documentação/normas , Hipotonia Muscular/epidemiologia , Paralisia/epidemiologia , Poliomielite/prevenção & controle , Vigilância da População , Doença Aguda , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Nigéria/epidemiologia , Poliomielite/epidemiologia
17.
BMC Public Health ; 18(Suppl 4): 1305, 2018 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-30541508

RESUMO

BACKGROUND: Eradication of polio requires that the acute flaccid paralysis (AFP) surveillance system is sensitive enough to detect all cases of AFP, and that such cases are promptly reported and investigated by disease surveillance personnel. When individuals, particularly community informants, are unaware of how to properly detect AFP cases or of the appropriate reporting process, they are unable to provide important feedback to the surveillance network within a country. METHODS: We tested a new SMS-based smartphone application (App) that enhances the detection and reporting of AFP cases to improve the quality of AFP surveillance. Nicknamed Auto-Visual AFP Detection and Reporting (AVADAR), the App creates a scenario where the AFP surveillance network is not dependent on a limited number of priority reporting sites. Being installed on the smartphones of multiple health workers (HWs) and community health informants (CHIs) makes the App an integral part of the detection and reporting system. RESULTS: Results from two phases of tests conducted in Nigeria point to the effectiveness of the App in the surveillance of AFP. CONCLUSION: We posit that appropriate use of the App can soon bring about a worldwide eradication of poliomyelitis.


Assuntos
Aplicativos Móveis , Hipotonia Muscular/epidemiologia , Paralisia/epidemiologia , Vigilância da População/métodos , Smartphone , Mensagem de Texto , Doença Aguda , Criança , Erradicação de Doenças , Humanos , Nigéria/epidemiologia , Poliomielite/prevenção & controle
18.
BMC Public Health ; 18(Suppl 4): 1310, 2018 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-30541509

RESUMO

BACKGROUND: Nigeria has made remarkable progress in its current efforts to interrupt wild poliovirus transmission despite the re-emergence of wild poliovirus in 2016. The gains made in Nigeria have been achieved through concerted efforts by governments at all levels, traditional leaders, health workers, caregivers, and development partners. The efforts have involved an elaborate plan, coordination, and effective implementation of routine immunization services, supplemental immunization activities, and acute flaccid paralysis (AFP) surveillance. METHODS: We conducted the following activities to strengthen AFP surveillance in Kaduna state: a monetary reward for all AFP cases reported by health workers or community informants and verified as "true" AFP by a World Health Organization (WHO) cluster coordinator; training and sensitization of surveillance officers, clinicians, and community informants; recruitment of more personnel and expansion of the surveillance network; and the involvement of special populations (nomadic, hard-to-reach, and border communities) and caregivers in stool sample collection. The paired t test was used to evaluate the impact of the different initiatives implemented in Kaduna state to intensify AFP surveillance in 2016. RESULTS: There was increased annualized non-polio AFP rate (ANPAFPR) in 21 out of 23 Local Government Areas (LGAs) of Kaduna state 6 months after implementation of different initiatives to intensify AFP surveillance. The AFP reported by the special population increased in 15 out of 23 LGAs. Statistical analyses of mean scores of ANPAFPR before and after the interventions using the paired t test revealed a significant difference in mean scores: mean = 19.7 (standard deviation (SD) = 16.1) per 100,000 < 15 years old in July-December 2015, compared with 38.0 (SD = 21.6) per 100,000 < 15 years old in January-June 2016 (p < 0.05). Likewise, analysis of silent wards using the paired t test showed a significant difference in mean scores: mean = 4.0 (SD = 2.1) in July-December 2015 compared with 2.4 (SD = 1.8) in January-June 2016 (p < 0.05). CONCLUSION: The different initiatives implemented in 23 LGAs of Kaduna state to intensify AFP surveillance may be responsible for the significant improvement in the AFP surveillance performance indicators in 2016.


Assuntos
Hipotonia Muscular/epidemiologia , Paralisia/epidemiologia , Poliomielite/prevenção & controle , Vigilância da População , Doença Aguda , Certificação , Criança , Humanos , Nigéria/epidemiologia , Poliomielite/epidemiologia
20.
Neonatal Netw ; 37(4): 212-217, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30567918

RESUMO

Congenital myopathy is an uncommon neonatal disorder that can manifest in the neonatal period with severe features. Presentation with signs of global hypotonia and respiratory insufficiency are among the classic findings. Rapid diagnosis is essential for medical management and family support. This case study reviews the presentation of hypotonia in the newborn, followed by a path to a diagnosis of nemaline myopathy in the form of an ACTA-1 mutation. This review can aid the clinician in the diagnosis of patients in whom hypotonia is present at birth. Included is a discussion of the incidence, pathophysiology, diagnosis, and management of this devastating disease.


Assuntos
Hipotonia Muscular/genética , Hipotonia Muscular/enfermagem , Miopatias da Nemalina/genética , Miopatias da Nemalina/enfermagem , Enfermagem Neonatal/educação , Enfermagem Neonatal/normas , Enfermeiras Neonatologistas/educação , Currículo , Educação Continuada em Enfermagem , Feminino , Humanos , Recém-Nascido , Masculino , Mutação , Guias de Prática Clínica como Assunto
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