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1.
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
2.
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
3.
Biomed Res Int ; 2018: 4032543, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30581852

RESUMO

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by OFD1 mutations with few reports. In this study, by using whole exome sequencing (WES), a novel OFD1 splicing mutation (c.2488+2T>C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded. This mutation was inherited from the mother who has experienced two similar pregnancies before. An abnormal skipping of exon 18 in OFD1 mRNA was confirmed by RT-PCR and sequencing. Result from quantitative RT-PCR also showed that total OFD1 mRNA in the index fetus was significantly lower than the control. After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T>C in OFD1 was considered to be the genetic cause for the affected fetus. Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV. We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease. The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Síndrome de Dandy-Walker/genética , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Mutação/genética , Proteínas/genética , Processamento de RNA/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Exoma/genética , Éxons/genética , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Linhagem , Gravidez , Diagnóstico Pré-Natal/métodos , Sequenciamento Completo do Exoma/métodos
6.
Pan Afr Med J ; 30: 152, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30374398

RESUMO

A vitamin B12 deficiency in infants is rare, but may sometimes be seen in breastfed babies of strict vegetarian mothers. Vitamin B12, also known as cobalamin, is only found in meat and other animal products. Most babies have a sufficient supply as long as the mother was not deficient herself. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Urinary concentrations of methylmalonic acid and homocystine are characteristically elevated in vitamin B12 deficiency. Early treatment for a vitamin B12 deficiency in an infant involves immediate administration of vitamin B12 to the baby and the breastfeeding mother. The infant and mother will each receive an injection of vitamin B12 containing 1,000 mcg or more of the vitamin, and the mother will continue to receive injections every month to raise her own stores. After the initial injection, the baby will often receive future vitamin B12 through food sources. We present a case of vitamin B12 deficiency in a 9-month-old girl presented with psychomotor regression, hypotonia and lethargy. The child was exclusively breast-fed from birth by a mother who was on strict vegetarian diet and belong to a low socio-economic status. Laboratory data revealed bicytopenia with macrocytic anemia and methylmalonic acid in the urine, consistent with vitamin B12 deficient anemia. The Brain CT revealed a cerebral atrophy and delayed myelination. Vitamin B12 supply was effective on anaemia and psychomotor delay. This case figures out the importance of an early diagnosis in front of psychomoteur regression and hypotonia, given the risk of incomplete neurologic recovery due to vitamin B12 deficiency mainly in the setting of maternal nutritional deficiency.


Assuntos
Anemia Macrocítica/etiologia , Transtornos Psicomotores/etiologia , Deficiência de Vitamina B 12/complicações , Vitamina B 12/administração & dosagem , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/tratamento farmacológico , Aleitamento Materno , Feminino , Humanos , Lactente , Mães , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/tratamento farmacológico , Hipotonia Muscular/etiologia , Transtornos Psicomotores/tratamento farmacológico , Resultado do Tratamento , Deficiência de Vitamina B 12/diagnóstico
7.
Rev. neurol. (Ed. impr.) ; 67(8): 287-292, 16 oct., 2018. tab
Artigo em Espanhol | IBECS | ID: ibc-175224

RESUMO

Introducción. La hipotonía constituye un signo habitual de enfermedad en el neonato. Ahora bien, se trata de un signo inespecífico: puede ser la manifestación inicial de una enfermedad neurológica o multisistémica. Objetivos. Estudiar las principales causas de la hipotonía neonatal y evaluar la exactitud diagnóstica de la anamnesis y la exploración física en el neonato hipotónico. Pacientes y métodos. Estudio retrospectivo de 22 años con recién nacidos afectados por hipotonía e ingresados en la unidad de cuidados intensivos neonatales. A partir de la anamnesis y de los datos recabados durante la exploración física, se hizo una clasificación inicial en condiciones de enmascaramiento del tipo de hipotonía: central, periférica o indeterminada. Resultados. El número de pacientes estudiados ascendió a 91. De ellos, 42 (46,2%) presentaban antecedentes de alteraciones prenatales: polihidramnios (28,6%), retraso del crecimiento intrauterino (21,4%) y presentación de nalgas (19%). Cincuenta y tres (58,2%) habían precisado reanimación al nacer. Los principales síntomas asociados consistieron en disnea (65,9%), dificultades de alimentación (36,5%) y escasez de movimientos espontáneos (22,4%). El diagnóstico definitivo se obtuvo en 64 neonatos (70,3%): el 81,3% mostraba hipotonía central, y el 18,7%, hipotonía periférica. El valor predictivo positivo de la clasificación inicial alcanzó el 97,9% en la hipotonía central y el 66,7% en la hipotonía periférica. La tasa de mortalidad fue del 8,8%, y resultó superior en el grupo de hipotonía periférica (58,3% frente a 1,3%). Conclusiones. La hipotonía neonatal aparece vinculada con una larga lista de trastornos. Una anamnesis minuciosa y una valoración neurológica cuidadosa brindan un alto valor predictivo diagnóstico que debe orientar el estudio etiológico


Introduction. Hypotonia is a frequent sign of disease in newborns. However, it's a nonspecific clinical finding: may be the presentation form of a systemic or neurological disease. Aims. To study the main causes of neonatal hypotonia as well as to evaluate the diagnostic accuracy of the anamnesis and physical examination of the hypotonic newborn. Patients and methods. A 22-year retrospective study of hypotonic neonates admitted to the Neonatal Intensive Care Unit was conducted. It was performed an initial blind classification of hypotonia’s type (central-CH, peripheral-PH or undetermined hypotonia) based on the clinical history and the recorded data of physical examination. Results. 91 infants were included. 42 (46.2%) had prenatal history abnormalities: polyhydramnios (28.6%), intrauterine growth restriction (21.4%) and pelvic presentation (19.0%). 53 (58.2%) required resuscitation at birth. The main associated symptoms were respiratory distress (65.9%), feeding difficulties (36.5%) and decreased spontaneous movements (22.4%). The final diagnosis was reached in 64 newborns (70.3%): 81.3% with CH, 18.7% with PH. The positive predictive value of the initial classification was 97.9% in CH and 66.7% in PH group. The mortality rate was 8.8% and it was higher in PH group (58.3% vs 1.3%). Conclusions. Neonatal hypotonia can be associated to an extensive list of disorders. A detailed clinical history associated to a careful neurological evaluation present a high diagnostic predictive value that should guide the etiological investigation


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Unidades de Terapia Intensiva Neonatal , Hipotonia Muscular/classificação , Diagnóstico Diferencial
8.
Medicine (Baltimore) ; 97(25): e11162, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29924026

RESUMO

RATIONALE: Methylmalonic acidemia (MMA) is an autosomal recessive disease of organic acidemia. PATIENT CONCERNS: We report a 26-year-old male who presented with metabolic acidosis, acute renal failure required hemodialysis and acute respiratory failure required mechanical ventilation support. Progressive hypotonia of muscles made weaning from mechanical ventilator difficult. DIAGNOSES: High level of serum methylmalonic acid and the mut genotype sequences confirmed the diagnosis of this adult-onset MMA. Two mut genotype sequences were found by analyzing all coding exons and exon-intron junctions. One genotype was well documented (Exon 6 Mutation, c. 1280G>A. p. G427D, heterozygous). The other mut genotype sequence had never been reported elsewhere (Intron 6 Novel, c. 1333-13_c. 1333-8delTTTTTC, heterozygous). INTERVENTIONS: Diet modification, medication, regular hemodialysis and physical rehabilitation. Weaning strategy adjusted with help of electrical impedance tomography. OUTCOMES: The muscle power of the patient gradually recovered. Extubation of the patient was successful and he was discharged without oxygen required. LESSONS: This case gives us the lesson that MMA can be newly diagnosed in adult patient. A new mut genotype sequence was discovered. The use of electrical impedance tomography to select a suitable method for inspiratory muscle training was possible and useful.


Assuntos
Lesão Renal Aguda , Erros Inatos do Metabolismo dos Aminoácidos , Metilmalonil-CoA Mutase/genética , Insuficiência Respiratória , Lesão Renal Aguda/diagnóstico , Lesão Renal Aguda/etiologia , Lesão Renal Aguda/terapia , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Diagnóstico Diferencial , Impedância Elétrica , Humanos , Masculino , Ácido Metilmalônico/sangue , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Hipotonia Muscular/terapia , Mutação , Administração dos Cuidados ao Paciente/métodos , Diálise Renal/métodos , Respiração Artificial/métodos , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Tomografia/métodos
9.
Occup Ther Int ; 2018: 8967572, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29853815

RESUMO

Despite the many advances in diagnostics, the clinical assessment of children with hypotonia presents a diagnostic challenge for clinicians due to the current subjectivity of the initial clinical assessment. The aim of this paper is to report on an evidence-based clinical algorithm (EBCA) that was developed for the clinical assessment of hypotonia in children as part of the output of a multiphased study towards assisting clinicians in more accurate assessments. This study formed part of a larger advanced mixed methods design. The preceding phases of the study included a systematic review, a survey amongst clinicians, a consensus process (Delphi technique), and a qualitative critique with multiple focus groups. Samples were drawn from three professional groups (occupational therapists, physiotherapists, and paediatricians). Data were analysed at each stage and merged in the development of the EBCA. The EBCA followed a rigorous process of development and critique. The methods for formulating changes in the revision and development of the EBCA are presented together with a description and presentation of the final algorithm for practice. The overarching concepts that guided the development and refinement of the EBCA are described, taking into consideration knowledge translation, evidence-based practice, and the value of EBCAs in addition to recommendations for stakeholder uptake. The EBCA is envisaged to be useful in practice for clinicians who are faced with the assessment of a child that is suspected as having hypotonia via a systematic process in identifying specific characteristics that are associated with low muscle tone.


Assuntos
Algoritmos , Prática Clínica Baseada em Evidências , Hipotonia Muscular/diagnóstico , Terapia Ocupacional/métodos , Criança , Erros de Diagnóstico/prevenção & controle , Feminino , Humanos
11.
Emerg Med Clin North Am ; 36(2): 335-347, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29622326

RESUMO

The term "brief resolved unexplained event" was created to replace "apparent life-threatening event," narrowing the definition and providing evidence-based guidelines for management. The emphasis is placed on using clinical clues to classify patients as low risk or exclude them from the categorization altogether. Infants who meet low-risk classification can be briefly observed in the emergency department and be discharged home. Infants who demonstrate elements suggestive of a specific etiology should be evaluated and treated accordingly. Patients who demonstrate no specific findings yet who are high risk should be evaluated for the most common etiologies of apneic events and be admitted.


Assuntos
Apneia/diagnóstico , Cianose/diagnóstico , Hipotonia Muscular/diagnóstico , Medicina de Emergência Pediátrica , Medição de Risco/métodos , Transtornos Somatoformes/diagnóstico , Humanos , Lactente , Recém-Nascido
13.
Am J Med Genet A ; 176(1): 209-213, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29130599

RESUMO

Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different countries, with developmental delay, intellectual disability, hypotonia, fatigue, and highly similar dysmorphic facial features. Shared facial features are a broad and wide forehead, similar shape of the eyes with long palpebral fissures, a bulbous tip of the nose and thick lips. Intellectual disabilities range from mild to severe. One female patient and the male patient were investigated in childhood for significant hypotonia thought to be suggestive of a neuromuscular disorder. The two female patients also show excessive fatigue with daytime somnolence. The patients carry overlapping, de novo microdeletions of chromosome 17q11.2, with sizes ranging from 0.97 to 1.18 Mb. The smallest region of overlap (SRO) between the three patients is 863 kb, and contains seven genes, five of which are predicted to exhibit haploinsufficiency (CDK5R1, PSMD11, RHOT1, SUZ12, ZNF207) although none has yet been associated with genetic syndromes. Of these five genes, the brain expressed CDK5R1 gene constitutes a good candidate for the developmental delay, while the RHOT1 gene, involved in mitochondrial trafficking, might underlie the hypotonia and the excessive fatigue.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 17 , Estudos de Associação Genética , Fenótipo , Adolescente , Criança , Hibridização Genômica Comparativa , Facies , Fadiga/diagnóstico , Fadiga/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética
14.
Am J Med Genet A ; 176(1): 201-208, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28960836

RESUMO

We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16.1 deletion encompassing the entire BCL11A gene and displaying a similar phenotype, we characterize in depth how BCL11A is involved in clinical aspects of language development and oral praxis.


Assuntos
Apraxias/diagnóstico , Apraxias/genética , Proteínas de Transporte/genética , Mutação da Fase de Leitura , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Proteínas Nucleares/genética , Fenótipo , Anormalidades Múltiplas , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Hibridização Genômica Comparativa , Facies , Estudos de Associação Genética , Loci Gênicos , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Análise de Sequência de DNA , Sequenciamento Completo do Exoma
15.
Afr Health Sci ; 18(3): 790-798, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30603013

RESUMO

Objective: The objective of this study was to systematically appraise the quality of an evidenced-based clinical algorithm for the clinical assessment of hypotonia in children. Design: The Appraisal of Guidelines for Research and Evaluation (AGREE) II tool with 23 items and six domains was used. The study was located in South Africa. Ten appraisers, who were recruited based on specific selection criteria, completed the assessment. Results: Nine appraisers recommended the EBCA without any modification. Scope and purpose (94%), stakeholder involvement (91%) and editorial independence (99%) were rated the highest with the lower scoring domains being clarity of presentation (85%) and applicability (86%) due to clarity required in areas of resource implications and auditing and monitoring criteria. Inter-rater reliability was strong (ICC 0.7) amongst the appraisers in this study. Conclusion: This is the first independent assessment of the methodological rigour and transparency of a clinical algorithm using the AGREE-II instrument. Determining the quality of the EBCA for practice is essential as this would ultimately aid clinicians towards more accurate clinical assessment of hypotonia which would inevitably impact outcomes and management of the child presenting with this symptom. Whilst the AGREE-II provided initial feedback on the methodological rigour of development, understanding that the AGREE-II instrument evaluates the guideline development process and not the content is also essential in order to consider the next stage which would be to consider clinicians feedback on the clinical utility of this EBCA.


Assuntos
Técnicas de Apoio para a Decisão , Hipotonia Muscular/diagnóstico , Algoritmos , Criança , Medicina Baseada em Evidências , Humanos , Variações Dependentes do Observador , Guias de Prática Clínica como Assunto
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(5): 709-713, 2017 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-28981939

RESUMO

OBJECTIVE: To carry out genetic analysis for a fetus with Dandy-Walker malformation and provide prenatal diagnosis for its parents during the subsequent pregnancy. METHODS: Routine G-banding was carried out to analyze the karyotype of the fetus and its parents, and next-generation sequencing (NGS) and fluorescence in situ hybridization (FISH) were used to verify the result. RESULTS: The father showed a normal karyotype, while the mother was found to carry a balanced t(11; 22) (q23; q11) translocation. NGS and FISH analysis verified that the supernumerary marker chromosome carried by the fetus was der(22) t(11; 22) (q23;q11). The fetus was diagnosed with Emanuel syndrome. During the next pregnancy, the fetus was found to carry the same balanced translocation as its mother. After genetic counseling, the couple decided to continue with the pregnancy, and eventually delivered a healthy baby. CONCLUSION: A fetal case of Emanuel syndrome has been identified. The derivative der(22) t(11; 22)(q23; q11) chromosome probably underlies the Dandy-Walker malformation in the fetus. Combined cytogenetic and molecular analyses can attain a more precise diagnosis for fetal abnormalities detected by ultrasonography.


Assuntos
Transtornos Cromossômicos/genética , Fissura Palatina/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Diagnóstico Pré-Natal , Adulto , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 22 , Fissura Palatina/diagnóstico , Feminino , Seguimentos , Cardiopatias Congênitas/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Hipotonia Muscular/diagnóstico , Gravidez , Translocação Genética
17.
Clin Chim Acta ; 474: 159-164, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28969986

RESUMO

BACKGROUND: 3-M syndrome is a clinically recognizable yet under-diagnosed primordial growth retardation disorder. Molecular testing for CUL7, OBSL1 or CCDC8 genes can provide confirmed diagnosis for patients at prenatal or early age. So far, the clinical and molecular features of Chinese 3-M syndrome patients have not been reported. METHODS: In this article, the authors performed prenatal and early diagnosis of Chinese patients with 3-M syndrome by Next-Generation Sequencing. RESULTS: The authors reported six unrelated Chinese 3-M syndrome patients. Five of the six patients were diagnosed before two years of age including one prenatal case. The authors identified six novel pathogenic variants and five previously reported pathogenic variants. The authors' clinical evaluations indicated that Chinese 3-M syndrome patients share similar recognizable features as those reported in patients of other ethnic background. The authors noticed some uncommon features in this small cohort of Chinese patients such as delayed motor development at early ages, undelayed bone age and presence of lower eyelid fat pads. CONCLUSION: The authors' study of Chinese 3-M syndrome patients revealed novel mutations and clinical phenotypes.


Assuntos
China , Nanismo/diagnóstico , Nanismo/etiologia , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Diagnóstico Pré-Natal , Coluna Vertebral/anormalidades , Criança , Pré-Escolar , Nanismo/genética , Diagnóstico Precoce , Feminino , Genótipo , Humanos , Lactente , Masculino , Hipotonia Muscular/genética , Fenótipo , Gravidez
18.
Dtsch Arztebl Int ; 114(33-34): 551-557, 2017 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-28855045

RESUMO

BACKGROUND: Although poliomyelitis has almost been eradicated worldwide, cases of a polio-like disease with asymmetrical flaccid paralysis of variable severity have been seen repeatedly in recent years. METHODS: Data were collected on children treated in hospitals in the German federal states of Bavaria and Lower Saxony in 2016. The frequency of disease across Germany was estimated on the basis of voluntary reporting to the Robert Koch Institute. 16 cases were registered there for the entire year 2016. RESULTS: 7 children with flaccid paralysis of acute onset were treated in the participating hospitals in the summer and fall of 2016. We describe two illustrative cases, one with a mild course and one with a severe course. Rapid diagnosis requires not only clinical neurological assessment but also neurophysiological studies, magnetic resonance imaging (MRI), and targeted microbiological testing. The characteristic features include damage to the anterior horn of the spinal cord that can be seen on MRI and/or electrophysiologically demonstrable abnormalities indicating motor neuron damage. A pathogen can hardly ever be identified in the cerebrospinal fluid, but the epidemiological context and the detection of viruses in the stool or respiratory secretions indicate that entero - viruses may be responsible. CONCLUSION: The prognosis of this disease cannot be reliably assessed at first, and no specific treatment is currently available.


Assuntos
Hipotonia Muscular/diagnóstico , Mielite/diagnóstico , Poliomielite/diagnóstico , Doença Aguda , Criança , Pré-Escolar , Feminino , Alemanha , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Paralisia
19.
JAMA Ophthalmol ; 135(10): 1055-1061, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28880982

RESUMO

Importance: While much has been reported on the relationship between floppy eyelid syndrome and obstructive sleep apnea (OSA), the diagnostic criteria of floppy eyelid syndrome are often subjective and vague. Objective: To evaluate the association between OSA and quantitative markers of eyelid laxity or secondary ocular surface disease in a sleep clinic population. Design, Setting, and Participants: This investigation was a cross-sectional observational study at the Center for Sleep Medicine at Icahn School of Medicine at Mount Sinai. Participants were individuals referred for overnight polysomnography from March 1 to August 30, 2015. Main Outcomes and Measures: Eyelid laxity and ocular surface disease were assessed on bedside ophthalmologic examination. The presence and severity of OSA were determined from polysomnography results. Initial correlation between OSA and ocular surface and eyelid markers was calculated through bivariate linear regression analysis, and the association between ocular symptoms was obtained through bivariate ordered logistic regression. Analysis was repeated adjusting for known associations between OSA and sex, age, body mass index, and medical comorbidities through multivariable analysis. Results: In total, 201 individuals (402 eyes) were enrolled in the study. Their mean (SD) age was 53.2 (13.5) years, 43.3% (n = 87) were female, 56.7% (n = 114) were of white race/ethnicity, 26.9% (n = 54) were black/African American, 4.0% (n = 8) were Asian, 8.0% (n = 16) were multiracial or other, and 4.5% (n = 9) were of unknown race/ethnicity, with 21.9% (n = 44) of all individuals self-identifying as Hispanic and 75.1% (n = 151) self-identifying as non-Hispanic. After adjustment, no association was observed between OSA severity and an eyelid laxity score (regression coefficient, 0.85; 95% CI, -0.33 to 0.62; P = .40) or an ocular surface score (regression coefficient, 1.09; 95% CI, -0.32 to 0.29; P = .93). Through subset analysis, male sex was associated with a higher ocular surface score, while older age and diabetes were associated with a higher eyelid laxity score. Only one patient (0.5%) exhibited findings of floppy eyelid syndrome. Conclusions and Relevance: Among individuals referred for overnight polysomnography, quantitative markers of eyelid laxity were not associated with the presence or severity of OSA. Subset analysis suggests that prior studies may have been limited by confounding variables or the technique of identifying eyelid laxity.


Assuntos
Doenças Palpebrais/diagnóstico , Apneia Obstrutiva do Sono/diagnóstico , Adulto , Idoso , Estudos Transversais , Doenças Palpebrais/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/fisiopatologia , Polissonografia , Estudos Prospectivos , Fatores de Risco , Apneia Obstrutiva do Sono/fisiopatologia , Síndrome
20.
Eur J Endocrinol ; 177(6): 485-501, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28870985

RESUMO

BACKGROUND: GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS: We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis. 107 (96 GHI, 88 probands; 11 IGF-1 insensitivity, 9 probands) underwent CGS. WES was performed in those with no defined genetic aetiology following CGS. RESULTS: A genetic diagnosis was discovered 38/107 (36%) patients (32% probands) by CGS. WES revealed 11 patients with genetic variants in genes known to cause short stature. A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). WES also identified homozygous putative variants in FANCA and PHKB in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect. CONCLUSIONS: Comprehensive genetic testing confirms the genetic heterogeneity of GH/IGF-1 insensitivity and successfully identified the genetic aetiology in a significant proportion of cases. WES is rapid and may isolate genetic variants that have been missed by traditional clinically driven genetic testing. This emphasises the benefits of specialist diagnostic centres.


Assuntos
Nanismo/genética , Transtornos do Crescimento/genética , Hipotonia Muscular/genética , Síndrome de Silver-Russell/genética , Coluna Vertebral/anormalidades , Adolescente , Proteínas de Transporte/genética , Criança , Pré-Escolar , Proteínas Culina/genética , Proteínas do Citoesqueleto/genética , Metilação de DNA , Nanismo/diagnóstico , Nanismo/metabolismo , Exoma/genética , Proteína do Grupo de Complementação A da Anemia de Fanconi/genética , Feminino , Glicoproteínas/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/metabolismo , Hormônio do Crescimento Humano/metabolismo , Humanos , Lactente , Fator de Crescimento Insulin-Like I/metabolismo , Fator de Crescimento Insulin-Like II/genética , Masculino , Técnicas de Diagnóstico Molecular , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/metabolismo , Receptores de Somatomedina/genética , Análise de Sequência de DNA , Síndrome de Silver-Russell/diagnóstico , Síndrome de Silver-Russell/metabolismo , Coluna Vertebral/metabolismo
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