Sleep disorders in cerebrotendinous xanthomatosis: A case series.

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by a variety of neurological and systemic symptoms, including cerebellar ataxia, cataracts, tendon xanthomas, and polyneuropathy. This study aimed to investigate sleep patterns and disorders in four patients diagnosed with cerebrotendinous xanthomatosis. All participants reported significant sleep disturbances, and objective assessments confirmed the presence of insomnia, excessive daytime sleepiness, obstructive sleep apnea, and periodic limb movements. Notably, this is the first study to incorporate sleep assessments into the clinical management of CTX patients, which may be crucial for improving their quality of life. Further research is warranted to deepen our understanding of the potential impact of cholestanol deposits on regions of the central nervous system involved in sleep and circadian rhythm regulation.

Effect of sleep duration on child development in Fortaleza, Northeastern Brazil.

OBJECTIVE: The present study's objective is to assess whether sleep duration affects Early Childhood Development (ECD). A prospective cohort study was carried out with 278 mother-child dyads in the city of Fortaleza, northeastern Brazil, with data collection every 6 months. METHOD: The data used in this study are from the third (18 months) and fourth (24 months) survey waves. Information on sleep duration was collected using the Brief Infant Sleep Questionnaire (BISQ) and information on ECD using the Caregiver Reported Early Development Instrument (CREDI). Crude and adjusted regression models were run for each CREDI domain as an outcome with 5 % significance. RESULTS: The authors found that after adjusting for maternal age and schooling, family income, and the presence of other children in the house, night sleep duration was associated with better ECD scores (cognitive: coef. 0.14; 95 % CI 0.04,0.24; language: coef. 0.10; 95 % CI 0.01,0.19; motor: coef. 0.10; 95 % CI 0.03,0.18; socio-emotional: coef. 0.16; 95 % CI 0.06,0.25; overall: coef. 0.14; 95 % CI 0.04,0.24), and the time awake at night associated with worse scores (cognitive: coef. -0.12; 95 % CI -0.23,0.02; motor: coef. -0.09; 95 % CI -0.17,-0.01; socio-emotional: coef. -0.11; 95 % CI -0.21,-0.01; overall: coef. -0.11; 95 % CI -0.21,-0.01). CONCLUSIONS: Nocturnal sleep duration affects ECD as expressed in all CREDI scores (cognitive, language, motor, social-emotional, and overall).

Multiple Mononeuropathy following Crotalid Envenomation: A case report.

A 34-year-old man developed severe envenomation after being bitten by a Crotalus durissus (rattlesnake), which was treated with anticrotalic serum. Three weeks later, the patient reported paresthesia and neuropathic pain in the left hand, which had progressed to all four limbs. Electroneuromyography revealed asymmetric axonal sensorimotor multiple mononeuropathy. The patient was treated with prednisone, and six months later there was significant improvement in sensorimotor conduction. This is the first reported case of multiple mononeuropathy associated with C. durissus envenomation. Post-snake envenomation peripheral neuropathy is a rare complication requiring prompt recognition and treatment to optimize nerve function and enhance patient outcomes.

Coverage and determinants of childhood vaccination during the COVID-19 pandemic in Fortaleza, Northeastern Brazil: a longitudinal analysis.

Brazil has seen a decrease in vaccination coverage since 2016. This study analyzes the immunization status of children born during the COVID-19 pandemic in Fortaleza, Northeastern Brazil. This is a longitudinal analysis that included vaccination data of 313 children aged 12 and 18 months. Vaccination cards were checked for dose application considering the schedule of immunization recommended by the Brazilian Ministry of Health. Factors associated with no retention of vaccination cards and incomplete immunization by 18 months were identified by Tobit regression analysis. About 73% of mothers presented their child's vaccination card. Non-availability of vaccination cards was associated with maternal age < 25 years and mothers with paid jobs. Only 33% and 45% of the children aged 12 and 18 months had all vaccines up to date, respectively. For 3-dose vaccines, the delay rate was around 10% for the first dose application, but 40% for the third dose. Despite delays, most children with available vaccine cards had coverage above 90% by 18 months of age. Adjusted factors associated with incomplete vaccination included living in a household with more than one child (p = 0.010) and monthly income of less than one minimum wage (p = 0.006). Therefore, delays in child vaccine application were high during the COVID-19 pandemic but a considerable uptake by 18 months of age was found. Poorer families with more than one child were particularly at risk of not fully immunizing their children and should be the target of public policies.

Peculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion.

Background: Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first description in 1937. Case report: A young adult man was initially evaluated at the age of 2 years for proptosis and progressive visual impairment of the right eye, followed by impairment in ocular abduction, adduction and elevation as well as amaurosis. MRI revealed an expansive formation centred in the right orbit compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit. Despite embolisation, proptosis and oedema of the periorbital tissue continued to worsen. The combination of facial, ocular and intracranial vascular malformations and the exclusion of alternative aetiologies led to a diagnosis of cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (Wyburn-Mason syndrome). Discussion: Important differential diagnoses are other CAMS, such as Sturge-Weber syndrome, as well as other conditions such as retinal cavernous haemangioma and vasoproliferative tumours. The optimal treatment regimen for severe cases of this syndrome is still unclear. Wyburn-Mason syndrome should be considered in patients presenting multiple arteriovenous malformations with orbital apex lesions.

Coverage and determinants of childhood vaccination during the COVID-19 pandemic in Fortaleza, Northeastern Brazil: a longitudinal analysis / Cobertura e determinantes da vacinação infantil durante a pandemia de COVID-19 em Fortaleza, Nordeste do Brasil: uma análise longitudinal / Cobertura y determinantes de la vacunación infantil durante la pandemia de COVID-19 en Fortaleza, Nordeste de Brasil: un análisis longitudinal

Abstract: Brazil has seen a decrease in vaccination coverage since 2016. This study analyzes the immunization status of children born during the COVID-19 pandemic in Fortaleza, Northeastern Brazil. This is a longitudinal analysis that included vaccination data of 313 children aged 12 and 18 months. Vaccination cards were checked for dose application considering the schedule of immunization recommended by the Brazilian Ministry of Health. Factors associated with no retention of vaccination cards and incomplete immunization by 18 months were identified by Tobit regression analysis. About 73% of mothers presented their child's vaccination card. Non-availability of vaccination cards was associated with maternal age < 25 years and mothers with paid jobs. Only 33% and 45% of the children aged 12 and 18 months had all vaccines up to date, respectively. For 3-dose vaccines, the delay rate was around 10% for the first dose application, but 40% for the third dose. Despite delays, most children with available vaccine cards had coverage above 90% by 18 months of age. Adjusted factors associated with incomplete vaccination included living in a household with more than one child (p = 0.010) and monthly income of less than one minimum wage (p = 0.006). Therefore, delays in child vaccine application were high during the COVID-19 pandemic but a considerable uptake by 18 months of age was found. Poorer families with more than one child were particularly at risk of not fully immunizing their children and should be the target of public policies.

Resumo: O Brasil registra uma diminuição na cobertura vacinal desde 2016. Este estudo analisa a situação vacinal de crianças nascidas durante a pandemia de COVID-19 em Fortaleza, Nordeste do Brasil. Uma análise longitudinal incluiu 313 crianças com informações aos 12 e 18 meses de idade. A aplicação das doses foram conferidas com base nos cartões de vacinação, considerando o calendário de imunização recomendado pelo Ministério da Saúde. Fatores associados à não retenção do cartão de vacinação e imunização incompleta aos 18 meses foram identificados por meio da regressão de Tobit. Cerca de 73% das mães apresentaram o cartão de vacinação do filho. A não apresentação do cartão de vacinação associou-se à idade materna < 25 anos e à participação materna em emprego remunerado. Apenas 33% e 45% das crianças tinham todas as vacinas em dia aos 12 meses e 18 meses, respectivamente. Para as vacinas com 3 doses, a taxa de atraso foi de cerca de 10% para a aplicação da 1ª dose, mas de 40% para a 3ª dose. Apesar dos atrasos, a maioria das crianças com cartão de vacinação disponível tinha cobertura acima de 90% até os 18 meses de idade. Os fatores ajustados associados à vacinação incompleta foram residir em domicílio com mais de um filho (p = 0,010) e renda mensal inferior a 1 salário mínimo (p = 0,006). Em conclusão, os atrasos na aplicação da vacina infantil foram altos durante a pandemia de COVID-19, mas houve uma adesão considerável até os 18 meses de idade. As famílias mais pobres, com mais de um filho, correm o risco de não imunizar totalmente seus filhos e devem ser alvo de políticas públicas.

Resumen: Brasil ha experimentado una disminución en la cobertura vacunal desde el 2016. Este estudio analiza la situación vacunal de los niños nacidos durante la pandemia de COVID-19 en Fortaleza, Nordeste de Brasil. Un análisis longitudinal incluyó a 313 niños con información a los 12 y 18 meses de edad. Se revisaron los carnés de vacunación para aplicar la dosis considerando el calendario de inmunización recomendado por el Ministerio de Salud. Los factores asociados con la no retención del carné de vacunación y la inmunización incompleta a los 18 meses se identificaron mediante la regresión de Tobit. Alrededor del 73% de las madres presentaron el carné de vacunación de sus hijos. La no disponibilidad del carné de vacunación se asoció con la edad materna < 25 años y la participación materna en actividad remunerada. Solo el 33% y el 45% de los niños estaban al día con todas sus vacunas a los 12 meses y 18 meses, respectivamente. Para las vacunas de 3 dosis, la tasa de retraso fue de alrededor del 10% para la 1ª dosis, pero del 40% para la 3ª dosis. A pesar de los retrasos, la mayoría de los niños con el carné de vacunación disponible tenía una cobertura superior al 90% hasta los 18 meses de edad. Los factores ajustados asociados con la vacunación incompleta fueron vivir en un hogar con más de un hijo (p = 0,010) e ingreso mensual inferior a 1 salario mínimo (p = 0,006). En definitiva, los retrasos en la administración de la vacuna infantil fueron altos durante la pandemia de COVID-19, pero hubo una adhesión considerable hasta los 18 meses de edad. Las familias más pobres, con más de un hijo, corren el riesgo de no inmunizar completamente a sus hijos y deberían ser objeto de políticas públicas.

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.

Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs.

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS)-Does it Really Exist?

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS) is a rare variant of the CLIPPERS spectrum with less than ten reports published so far. There is ongoing discussion regarding whether SLIPPERS is a disease entity on its own or just an acronym encompassing many underlying diagnoses, such as sarcoidosis, vasculitis and anti-glial fibrillary acidic protein (GFAP)-associated disease. A 40-year-old woman presented with episodes of language and attention impairment. Magnetic resonance imaging (MRI) revealed T2/FLAIR hyperintense lesions in the subcortical white matter associated with a micronodular, curvilinear perivascular contrast-enhancement. Alternative diagnoses were excluded. There was a remarkable response to steroids. A relapse occurred after six years, and the biopsy showed perivascular T-cell lymphocytic infiltrate, without granulomas, vasculitis, or neoplasia. There was complete resolution of the relapse after steroids. This case represents the longest reported follow-up of a patient diagnosed with SLIPPERS, and brain biopsy after 6 years did not suggest alternative diagnoses. This report contributes to the discussion regarding the possibility that exclusive supratentorial CLIPPERS-like pathology might be an isolated disease entity, but more biopsy-proven cases with a longer follow-up are needed to support this hypothesis. Recently, GFAP astrocytopathy has been characterized and might correspond to a significant number of cases previously diagnosed as CLIPPERS or SLIPPERS.

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. We conducted this review to evaluate lipid profile abnormalities in patients with CTX. A search was conducted in PubMed, Embase and the Virtual Health Library in January 2023 to evaluate studies reporting the lipid profiles of CTX patients, including the levels of cholestanol, cholesterol and other lipids. Elevated levels of cholestanol were consistently observed. Most patients presented normal or low serum cholesterol levels. A decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Lipid abnormalities in CTX have clinical implications. Cholestanol deposition in tissues contributes to clinical manifestations, including neurological symptoms and tendon xanthomas. Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients.