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During difficult times we forget that as healthcare practitioners we are immensely privileged. We have a job, with regular work and generally don't have to worry about putting food on our families' table. But from a humanities perspective, we also have front row seats on the drama of life and no two days can be the same. Yet as we struggle to master our profession, the day to day realities of the job itself struggles to master us. If we become 'too hard' we may be fully competent yet fail to discharge our duties properly; however, should we become 'too soft', we may find ourselves not being able to discharge those duties at all. Striking that 'happy' balance is a decision we each make for ourselves every day during our decades of practice. For me, it has been necessary from the outset to include medical humanities within the clinico-medical perspective of daily practice. My definition of Medical Humanities will not only include medical history but also, stories, films and plays. This article relates some practices which I have found useful.
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Pautas de la Práctica en Medicina , Pensamiento , Actitud del Personal de Salud , HumanosRESUMEN
Early childhood is foundational for optimal and inclusive lifelong learning, health and well-being. Young children with disabilities face substantial risks of sub-optimal early childhood development (ECD), requiring targeted support to ensure equitable access to lifelong learning opportunities, especially in low- and middle-income countries. Although the Sustainable Development Goals, 2015-2030 (SDGs) emphasise inclusive education for children under 5 years with disabilities, there is no global strategy for achieving this goal since the launch of the SDGs. This paper explores a global ECD framework for children with disabilities based on a review of national ECD programmes from different world regions and relevant global ECD reports published since 2015. Available evidence suggests that any ECD strategy for young children with disabilities should consists of a twin-track approach, strong legislative support, guidelines for early intervention, family involvement, designated coordinating agencies, performance indicators, workforce recruitment and training, as well as explicit funding mechanisms and monitoring systems. This approach reinforces parental rights and liberty to choose appropriate support pathway for their children. We conclude that without a global disability-focussed ECD strategy that incorporates these key features under a dedicated global leadership, the SDGs vision and commitment for the world's children with disabilities are unlikely to be realised.
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Desarrollo Infantil , Niños con Discapacidad , Humanos , Preescolar , Salud Global , Desarrollo Sostenible , Países en Desarrollo , Lactante , Niño , Intervención Educativa PrecozRESUMEN
Objective: Children with developmental disabilities are associated with a high risk of poor school enrollment and educational attainment without timely and appropriate support. Epidemiological data on cerebral palsy and associated comorbidities required for policy intervention in global health are lacking. This paper set out to report the best available evidence on the global and regional prevalence of cerebral palsy (CP) and developmental intellectual disability and the associated "years lived with disability" (YLDs) among children under 5 years of age in 2019. Methods: We analyzed the collaborative 2019 Rehabilitation Database of the Global Burden of Disease (GBD) Study and World Health Organization for neurological and mental disorders available for 204 countries and territories. Point prevalence and YLDs with 95% uncertainty intervals (UI) are presented. Results: Globally, 8.1 million (7.1-9.2) or 1.2% of children under 5 years are estimated to have CP with 16.1 million (11.5-21.0) or 2.4% having intellectual disability. Over 98% resided in low-income and middle-income countries (LMICs). CP and intellectual disability accounted for 6.5% and 4.5% of the aggregate YLDs from all causes of adverse health outcomes respectively. African Region recorded the highest prevalence of CP (1.6%) while South-East Asia Region had the highest prevalence of intellectual disability. The top 10 countries accounted for 57.2% of the global prevalence of CP and 62.0% of the global prevalence of intellectual disability. Conclusion: Based on this Database, CP and intellectual disability are highly prevalent and associated with substantial YLDs among children under 5 years worldwide. Universal early detection and support services are warranted, particularly in LMICs to optimize school readiness for these children toward inclusive education as envisioned by the United Nations' Sustainable Development Goals.
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Parálisis Cerebral , Personas con Discapacidad , Discapacidad Intelectual , Niño , Preescolar , Carga Global de Enfermedades , Humanos , Discapacidad Intelectual/epidemiología , Organización Mundial de la SaludRESUMEN
This history of vaccinology article outlines the work of William Money (1790-1843), who conducted a study related to smallpox disease, immunity, and vaccination. His hitherto unpublished study demonstrated that smallpox could be contracted more than once; notably, results from his studies showed that vaccination was not dangerous. He was also the author of a celebrated Vade Mecum in human anatomy. Here, we outline the work he conducted in England: from serving as the house surgeon at Northampton Infirmary to his post as a surgeon at the Royal Metropolitan Hospital in London.
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Vacuna contra Viruela , Viruela , Inglaterra , Historia del Siglo XVIII , Historia del Siglo XIX , Humanos , Londres , Viruela/prevención & control , VacunaciónRESUMEN
The physician and physiologist Dr William Harvey is known for having discovered that the heart pumps arterial blood round the whole body and receives venous blood from the periphery, which it forwards to the lungs for reoxygenation. Harvey's discovery was based on anatomical and physiological evidence and experiments using ligatures of varying tensions. As a clinician, however, Harvey does not appear to have appreciated the value of experiments in assessing treatment effects. Although he criticised Galenic views about the clinical value of experience and authority in the absence of accompanying empirical evidence, two handwritten prescriptions that he wrote for his friend and future biographer John Aubrey provide evidence that he conformed with Galenic theory when it came to drug therapy in clinical practice. This was consistent with his senior position in the College of Physicians, whose Pharmacopoeia Londinensis was based on Galenic principles, an appreciation of which was required for entry into the College. Harvey's prescriptions reflect this and open a window onto 17th-century therapeutic practice and the personal elements on which such practice was sometimes based.
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Investigación Biomédica/historia , Cardiología/historia , Prescripciones de Medicamentos/historia , Investigación Empírica , Médicos/historia , Pautas de la Práctica en Medicina/historia , Circulación Sanguínea , Ensayos Clínicos como Asunto , Corazón , Historia del Siglo XVII , Farmacopeas como Asunto/historia , Filosofía Médica/historia , Proyectos de Investigación , Sociedades Médicas/historia , EscrituraRESUMEN
BACKGROUND: Estimates of children and adolescents with disabilities worldwide are needed to inform global intervention under the disability-inclusive provisions of the Sustainable Development Goals. We sought to update the most widely reported estimate of 93 million children <15 years with disabilities from the Global Burden of Disease Study 2004. METHODS: We analyzed Global Burden of Disease Study 2017 data on the prevalence of childhood epilepsy, intellectual disability, and vision or hearing loss and on years lived with disability (YLD) derived from systematic reviews, health surveys, hospital and claims databases, cohort studies, and disease-specific registries. Point estimates of the prevalence and YLD and the 95% uncertainty intervals (UIs) around the estimates were assessed. RESULTS: Globally, 291.2 million (11.2%) of the 2.6 billion children and adolescents (95% UI: 249.9-335.4 million) were estimated to have 1 of the 4 specified disabilities in 2017. The prevalence of these disabilities increased with age from 6.1% among children aged <1 year to 13.9% among adolescents aged 15 to 19 years. A total of 275.2 million (94.5%) lived in low- and middle-income countries, predominantly in South Asia and sub-Saharan Africa. The top 10 countries accounted for 62.3% of all children and adolescents with disabilities. These disabilities accounted for 28.9 million YLD or 19.9% of the overall 145.3 million (95% UI: 106.9-189.7) YLD from all causes among children and adolescents. CONCLUSIONS: The number of children and adolescents with these 4 disabilities is far higher than the 2004 estimate, increases from infancy to adolescence, and accounts for a substantial proportion of all-cause YLD.
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Ceguera/epidemiología , Epilepsia/epidemiología , Carga Global de Enfermedades/estadística & datos numéricos , Pérdida Auditiva/epidemiología , Discapacidad Intelectual/epidemiología , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Prevalencia , Adulto JovenAsunto(s)
Personas con Discapacidad , Desarrollo Sostenible , Preescolar , Humanos , Salud Global , Naciones Unidas , Desarrollo Infantil , ObjetivosAsunto(s)
Desarrollo Infantil , Salud Infantil , Salud Global , Objetivos , Desarrollo Sostenible , Preescolar , HumanosRESUMEN
We describe a pilot study to investigate whether drawing "Thomas the Tank Engine" could be as effective a measure of developmental progress as the Goodenough-Harris Draw A Man test against the ThOMAs test (The Other Means of Assessment), with internal validation. The study included 95 children aged between 3 and 11 years of age, including a subgroup of 13 children with registered special needs from community and general pediatric clinics within Birmingham, UK, as a means of validation. There was no significant evidence that ThOMAS was either culturally or sex biased. Using regression analysis, nine items were found to correlate highly with actual age, and their total score gave a correlation of 0.563 with age. Adding further items did not increase this. After being converted into age-standardized scores, ThOMAS was as sensitive and specific as the Draw A Man test, and more so above a defined age-standardized threshold. This pilot study suggests that drawing Thomas the Tank Engine would appear to be as sensitive and specific a means of identifying children with special needs as the Goodenough-Harris Draw A Man test. The relatively small sample size means that further research is necessary to further define the age standardizations and to refine the ThOMAs test.
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Dibujos Animados como Asunto , Discapacidades del Desarrollo/diagnóstico , Pruebas Neuropsicológicas , Factores de Edad , Niño , Preescolar , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Proyectos Piloto , Vías Férreas , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
This paper summarizes the life and work of John Darwall, a Birmingham physician whose work helped develop several fields of medicine, including occupational health, medical journalism and paediatrics.
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Médicos/historia , Inglaterra , Historia del Siglo XIX , Humanos , Medicina del Trabajo/historia , Pediatría/historiaAsunto(s)
Archivos , Hospitales de Distrito/historia , Hospitales Generales/historia , Niño , Servicios de Salud del Niño/historia , Preescolar , Historia del Siglo XVI , Historia del Siglo XVII , Historia del Siglo XVIII , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Lactante , Recién Nacido , Reino UnidoRESUMEN
Thomas Willis (1621-1675) is recognized as the founder of clinical neuroscience. He conceived the word "neurologie" and, although immortalized by the arterial anastamosis at the base of the brain, his contributions to neuroscience were far wider and equally fundamental. This paper examines Willis' descriptions of cerebrovascular disorders, which he encountered in his practice.
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Alexander the Great was struck by a stone at the Siege of Cyropolis in 329 BC and was rendered temporarily blind and inaudible as a result. Although other authors have written extensively about the likely pathological effects of this injury, none have suggested carotid artery dissection as a possible cause. We present evidence that this should be considered as a differential diagnosis and how it might explain an unusual symptom seen at his deathbed in Babylon six years later.
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Ceguera Cortical/historia , Traumatismos de las Arterias Carótidas/historia , Disección de la Arteria Carótida Interna/historia , Personajes , Traumatismos del Cuello/historia , Guerra , Heridas no Penetrantes/historia , Antigua Grecia , Historia Antigua , Humanos , Masculino , PersiaRESUMEN
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1. METHODS: We selected a cohort of 99 PCH patients (90 families) tested negative for mutations in the TSEN genes, RARS2, VRK1 and CASK. Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene was performed using Sanger sequencing. Clinical data, MR images and autopsy reports of patients positive for EXOSC3 mutations were analyzed. RESULTS: EXOSC3 mutations were found in twelve families with PCH subtype 1, and were not found in patients with other PCH subtypes. Identified mutations included a large deletion, nonsense and missense mutations. Examination of clinical data reveals a prolonged disease course in patients with a homozygous p.D132A mutation. MRI shows variable pontine hypoplasia in EXOSC3 mediated PCH, where the pons is largely preserved in patients with a homozygous p.D132A mutation, but attenuated in patients with other mutations. Additionally, bilateral cerebellar cysts were found in patients compound heterozygous for a p.D132A mutation and a nonsense allele. CONCLUSIONS: EXOSC3 mediated PCH shows clear genotype-phenotype correlations. A homozygous p.D132A mutation leads to PCH with possible survival into early puberty, and preservation of the pons. Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons.
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Complejo Multienzimático de Ribonucleasas del Exosoma/genética , Atrofias Olivopontocerebelosas/genética , Proteínas de Unión al ARN/genética , Encéfalo/patología , Femenino , Estudios de Asociación Genética , Humanos , Masculino , MutaciónRESUMEN
OBJECTIVES: The aim of the study was to assess whether gastrostomy placement before 18 months of age results in a greater increase in z-score for weight and to assess whether admission rates were reduced postgastrostomy in this age group. DESIGN: Retrospective cross-sectional study. SETTING: Single-centre secondary care District General Hospital. PARTICIPANTS: All children with a neurodisability with a gastrostomy in situ in September 2011 were included. Those with primary neoplasia and undergoing chemo or radiotherapy or being palliated for an aggressive neurodegenerative disorder were excluded. Those with cystic fibrosis, primary congenital heart disease or Inflammatory bowel disease were also excluded. Forty-one children underwent final analysis. Twenty-four children underwent gastrostomy insertion less than 18 months and 17 children were older than 18 months. PRIMARY AND SECONDARY OUTCOME MEASURES: Primary outcome was z-scores for weight immediately pregastrostomy and 12 months postgastrostomy. Secondary outcomes were hospital admission rates pregastrostomy and postgastrostomy. Values were compared for those with gastrostomy insertion less than or equal to 18 months against those older than 18 months at insertion. RESULTS: Z-score for weight increased significantly in both age groups. There was significantly increased mean difference in the z-score for weight of +1.33 pregastrostomy and postgastrostomy in the less than 18 months age group as compared with an increased mean difference in the z-score for weight of +0.45 in the older age group (p=0.021). There was no significant difference in the admission rates postgastrostomy insertion in either age group. CONCLUSIONS: Gastrostomy insertion before 18 months of age results in greater z-score for weight gain in children with a neurodisability. This conclusion is limited by the lack of height and skin-fold thickness measurements. Further long-term matched control studies are required to determine the neurodevelopmental and clinical benefit of early gastrostomy placement in such children.