Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.

Kagami-Ogata syndrome (KOS) is a clinically recognizable syndrome in the neonatal period. It is characterized by specific skeletal anomalies and facial dysmorphisms. It is typically caused by paternal uniparental disomy of chromosome 14, while epimutations and microdeletions are less commonly reported causes. In the pediatric setting, KOS is a well delineated syndrome. However, there is a dearth of literature describing the natural history of the condition in adults. Herein, we describe a 35-year-old man, the first adult with KOS reported due to paternal uniparental disomy 14, and review reports of KOS in other affected adults. This highlights the variability in neurocognitive phenotypes, the presence of connective tissue abnormalities, and the uncertainties around long-term cancer risk.

An Adolescent Female With Concurrent Presentation of Autoimmune Hepatitis and Secondary Syphilis.

We describe concurrent diagnoses of autoimmune hepatitis (AIH) and secondary syphilis in a 17-year-old adolescent with jaundice, with possible syphilitic hepatitis (SH) excluded after a thorough investigation. Our patient presented with a several-day history of malaise, progressive jaundice, and vomiting. She disclosed being sexually active and requested testing for sexually transmitted infections. Her subsequent investigations demonstrated acute hepatitis with a positive antinuclear antibody and elevated IgG. She also tested positive for syphilis with a reactive rapid plasma regain and treponema pallidum particle agglutination assay. We considered 2 etiologies for her elevated liver enzymes: syphilitic hepatitis and AIH. AIH was confirmed on liver biopsy, establishing the first reported pediatric case of concurrent AIH and secondary syphilis. Syphilis is hypothesized to be an infectious trigger for AIH.

Comparison of Publication of Pediatric Probiotic vs Antibiotic Trials Registered on ClinicalTrials.gov.

Importance: The published evidence in support of probiotic use is conflicting, which may be a result of selective publication of probiotic trials. Objectives: To compare the proportion of registered trials that evaluate pediatric probiotics vs those that evaluate antibiotics that are published and to identify study-related factors associated with publication status. Design, Setting, and Participants: This cross-sectional study evaluated eligible trials registered in ClinicalTrials.gov, an online clinical trials registry, from July 1, 2005, to June 30, 2016. Eligible studies included participants younger than 18 years, evaluated a probiotic or 1 of the 5 most commonly prescribed antibiotics in children and adolescents, and randomized study participants. All searches were updated and finalized as of September 9, 2020. Exposures: Probiotic or antibiotic. Main Outcomes and Measures: The primary outcome was study publication status. In addition, exposure status (probiotic vs antibiotic), trial result, and funding source were assessed for independent association with publication status. Whether study design elements, publication journal impact factor, and the interval from study completion to publication differed by exposure status were also evaluated. Results: A total of 401 unique trials (265 probiotic and 136 antibiotic) met eligibility criteria. A greater proportion of antibiotic compared with probiotic studies were published (83 [61.0%] vs 119 [44.9%]; difference, 16.1% [95% CI, 5.8%-25.9%]). After adjustment for funding source, blinding, and purpose, studies evaluating an antibiotic were more likely to be published (odds ratio, 2.1 [95% CI, 1.3-3.4]). No other covariates included in the model were independently associated with publication status. Antibiotic trials, compared with probiotic trials, were more likely to have a therapeutic purpose (114 [83.8%] vs 117 [44.2%]; difference, 39.6% [95% CI, 31.1%-48.3%]) and to be multicenter (46 [33.8%] vs 46 [17.4%]; difference, 16.5% [95% CI, 7.5%-25.7%]). The median impact factor of the journals in which the studies were published was higher for the antibiotic trials (7.2 [IQR, 2.8-20.5] vs 3.0 [IQR, 2.3-4.2]; P < .001). The median number of days to publication did not differ between the probiotic and antibiotic trials (683 [IQR, 441-1036] vs 801 [IQR, 550-1183]; P = .24). Conclusions and Relevance: The findings of this cross-sectional study suggest that probiotic studies are less likely to be published than antibiotic trials. No other study characteristics were associated with publication status. This finding raises concerns regarding the results of meta-analyses of probiotic trials.

Mirror movements in children with unilateral cerebral palsy due to perinatal stroke: clinical correlates of plasticity reorganization.

AIM: We aimed to determine if the mirror movements that often result in children with unilateral cerebral palsy (CP) after perinatal stroke represent a clinical biomarker of developmental plasticity. METHOD: This was a prospective, controlled cohort study. Mirror movements in children with unilateral CP from a population-based cohort were compared to those of typically developing controls. The population with stroke was assessed further via electromyography (EMG), motor function, and corticospinal organization investigations. Mirror movements were quantified (0-5) bidirectionally. EMG mirror movements were quantified during voluntary contraction. Motor function was quantified by validated measures including the Assisting Hand Assessment (AHA). Corticospinal organization was categorized as ipsilateral or contralateral using transcranial magnetic stimulation (TMS). The relationships between mirror movements, function, and corticospinal organization were assessed (t-tests, Pearson rank correlation coefficients). RESULTS: Ninety-two participants were scored (55 males, 37 females, mean [SD] 12y [5y 6mo], range 4-17y), 63 with complete motor outcomes and 39 with TMS data. EMG ratios correlated with clinical mirror movements (r=0.562, p=0.008). Mild mirror activity in controls declined with age (r=-0.459, p<0.001). Mirroring was stronger with tasks performed by the affected hand (p<0.001). Mirror movements correlated with AHA scores (r=-0.255, p=0.04) and poor motor outcome (p<0.001). Unaffected hand mirror activity was higher in children with ipsilateral corticospinal tract arrangements (p<0.001). INTERPRETATION: Clinical mirror movements correlate with disability and corticospinal organization in children with unilateral CP with perinatal stroke. This simple bedside biomarker could facilitate patient selection for personalized rehabilitation. WHAT THIS PAPER ADDS: Mirror movements are a clinical indicator of corticospinal organization in children with unilateral cerebral palsy with perinatal stroke. Mirroring is strongest in children with ipsilateral corticospinal tract reorganization. The concept of a 'directionality factor' to mirror movements highlights additional, clinically relevant functional correlations.

MOVIMIENTOS EN ESPEJO EN NIÑOS CON PARÁLISIS CEREBRAL UNILATERAL DEBIDO A UN ACCIDENTE CEREBROVASCULAR PERINATAL: CORRELATOS CLÍNICOS DE REORGANIZACIÓN DE LA PLASTICIDAD: OBJETIVO: Nuestro objetivo fue determinar si los movimientos en espejo que a menudo presentan niños con parálisis cerebral unilateral después de un accidente cerebrovascular perinatal representan un biomarcador clínico de la plasticidad del desarrollo. MÉTODO: Este fue un estudio prospectivo de cohorte controlado. Los movimientos en espejo en niños con parálisis cerebral unilateral de una cohorte basada en la población se compararon con los de los controles. La población con accidente cerebrovascular se evaluó más a fondo mediante electromiografía (EMG), función motora e investigaciones de organización corticoespinal. Los movimientos en espejo se cuantificaron (0-5) bidireccionalmente. Los movimientos en espejo EMG fueron cuantificados durante la contracción voluntaria. La función motora se cuantificó mediante medidas validadas, incluida la Evaluación de la Mano Auxiliar (AHA). La organización corticoespinal se clasificó como ipsilateral o contralateral utilizando estimulación magnética transcraneal (SMT). Se evaluaron las relaciones entre los movimientos de espejo, la función y la organización corticoespinal (pruebas t, coeficientes de correlación de rango de Pearson). RESULTADOS: Noventa y dos participantes fueron calificados (55 masculinos, 37 femeninos, media [DE] 12 años de edad [5 años y 6 meses], rango 4-17 años), 63 con resultados motores completos y 39 con datos de TMS. Las proporciones de EMG se correlacionaron con los movimientos en espejo clínico (r = 0.562, p = 0.008). La actividad del espejo leve en los controles disminuyó con la edad (r = −0.459, p < 0.00001). El reflejo fue más fuerte con las tareas realizadas por la mano afectada (p < 0,001). Los movimientos en espejo se correlacionaron con las puntuaciones del AHA (r = −0.255, p = 0.04) y el resultado motor deficiente (p < 0.001). La actividad en espejo de la mano no afectada fue mayor en niños con disposiciones del tracto corticoespinal ipsilateral (p < 0,001). INTERPRETACIÓN: Los movimientos en espejo clínico se correlacionan con la función motora y la organización corticoespinal en niños con parálisis cerebral unilateral con accidente cerebrovascular perinatal. Este biomarcador simple junto a la cama podría facilitar la selección de pacientes para una rehabilitación personalizada.

MOVIMENTOS EM ESPELHO EM CRIANÇAS COM PARALISIA CEREBRAL UNILATERAL DEVIDO A ACIDENTE VASCULAR CEREBRAL PERINATAL: CORRELATOS CLÍNICOS DA REORGANIZAÇÃO POR PLASTICIDADE: OBJETIVO: Visamos determinar se os movimentos em espelho frequentemente observados em crianças com paralisia cerebral unilateral após acidente vascular cerebral perinatal representam um biomarcardor clínico da plasticidade do desenvolvimento MÉTODO: Tratou-se de um estudo de coorte prospectivo controlado. Movimentos em espelho em crianças com paralisia cerebral unilateral de uma coorte populacional foram comparados com os de controles. A população com acidente vascular cerebral foi adicionalmente avaliada com investigações de eletromiografia (EMG), função motora, e organização córtico-espinhal. Os movimentos em espelho foram quantificados (0-5) bidirecionalmente. Movimentos em espelho ao EMG foram quantificados durante a contração voluntária. A função motora foi quantificada por meio de medidas validadas incluindo a Assisting Hand Assessment (AHA). A organização córtico-espinhal foi categorizada como ipsilateral ou contralateral usando estimulação magnética transcraniana (EMT). As relações entre movimentos em espelho, função, e organização córtico-espinhal foram avaliadas (testes t, coeficientes de correlação de Pearson). RESULTADOS: Noventa e dois participantes foram pontuados (55 do sexo masculino, 37 do sexo feminino, média [DP] 12a [5a 6m], variação 4-17a), 63 com resultados motores completos e 39 com dados de EMT. As razões do EMG se correlacionaram com movimentos em espelho clínicos (r = 0,562, p = 0,008). A atividade em espelho leve nos controles diminuiu com a idade (r = −0,459, p < 0,00001). O espelhamento foi mais forte com tarefas realizadas pela mão afetada (p < 0,001). Movimentos em espelho correlacionaram com escores da AHA (r = -0,255, p = 0,04) e com pobre resultado motor (p < 0,001). Atividade em espelho na mão não afetada foi maior em crianças com arranjos ipsilaterais do trato córtico-espinhal (p < 0,001). INTERPRETAÇÃO: Movimentos em espelho clínicos se corelacionaram com a incapacidade e com a organização córtico-espinhal em crianças com paralisia cerebral unilateral com acidente vascular cerebral perinatal. Este simples biomarcador pode facilitar a seleção de pacientes para reabilitação personalizada.

Use of Femoral Nerve Blocks to Manage Hip Fracture Pain among Older Adults in the Emergency Department: A Systematic Review.

OBJECTIVE: Hip fractures are a common source of acute pain amongst the frail elderly. One potential technique to adequately manage pain in this population is the femoral nerve block. The objective of this systematic review was to provide updated evidence for the use of femoral nerve blocks as a pain management technique for older hip fracture patients in the emergency department (ED). Data Sources Searches of Medline, EMBASE, and the Cochrane Central Register of Controlled Trials were conducted between December 2010 and May 2014. The reference list of a previous systematic review was also searched. Study Selection We included randomized control trials examining the use of femoral nerve blocks in the ED among older adults (65 years of age or older) with acute hip fracture. Data Extraction Among 93 citations reviewed, seven trials were included. Four studies employed a single femoral nerve block, while three studies employed continuous (catheter-placed) femoral blocks. All but one of the studies were found to have a high risk of bias. Data Synthesis All studies reported reductions in pain intensity with femoral nerve blocks. All but one study reported decreased rescue analgesia requirements. There were no adverse effects found to be associated with the femoral block procedure; rather, two studies found a decreased risk of adverse events such as respiratory and cardiac complications. CONCLUSIONS: Femoral nerve blocks appear to have benefits both in terms of decreasing the pain experienced by older patients, as well as limiting the amount of systemic opioids administered to this population.