The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal AChR antibodies have also been implicated in apparently rare, milder myopathic presentations termed fetal acetylcholine receptor inactivation syndrome (FARIS). The full spectrum associated with fAChR antibodies is still poorly understood. Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement effective preventive strategies. Here we report clinical and immunological data from a multicentre cohort (n = 46 cases) associated with maternal fAChR antibodies, including 29 novel and 17 previously reported with novel follow-up data. Remarkably, in 50% of mothers there was no previously established myasthenia gravis (MG) diagnosis. All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offspring death occurred in 11/46 (23.9%) cases, mainly antenatally due to termination of pregnancy prompted by severe AMC (7/46, 15.2%), or during early infancy, mainly from respiratory failure (4/46, 8.7%). Weakness, contractures, bulbar and respiratory involvement were prominent early in life, but improved gradually over time. Facial (25/34; 73.5%) and variable peripheral weakness (14/32; 43.8%), velopharyngeal insufficiency (18/24; 75%) and feeding difficulties (16/36; 44.4%) were the most common sequelae in long-term survivors. Other unexpected features included hearing loss (12/32; 37.5%), diaphragmatic paresis (5/35; 14.3%), CNS involvement (7/40; 17.5%) and pyloric stenosis (3/37; 8.1%). Oral salbutamol used empirically in 16/37 (43.2%) offspring resulted in symptom improvement in 13/16 (81.3%). Combining our series with all previously published cases, we identified 21/85 mothers treated with variable combinations of immunotherapies (corticosteroids/intravenous immunoglobulin/plasmapheresis) during pregnancy either for maternal MG symptom control (12/21 cases) or for fetal protection (9/21 cases). Compared to untreated pregnancies (64/85), maternal treatment resulted in a significant reduction in offspring deaths (P < 0.05) and other complications, with treatment approaches involving intravenous immunoglobulin/ plasmapheresis administered early in pregnancy most effective. We conclude that presentations due to in utero exposure to maternal (fetal) AChR antibodies are more common than currently recognized and may mimic a wide range of neuromuscular disorders. Considering the wide clinical spectrum and likely diversity of underlying mechanisms, we propose 'fetal acetylcholine receptor antibody-related disorders' (FARAD) as the most accurate term for these presentations. FARAD is vitally important to recognize, to institute appropriate management strategies for affected offspring and to improve outcomes in future pregnancies. Oral salbutamol is a symptomatic treatment option in survivors.

Evaluación del ambiente sonoro de la Empresa Productora y Comercializadora de Glucosas, Almidón y Derivados del Maíz. Cienfuegos, Cuba / Evaluation of sound environment in the Manufacturing and Marketing Company of glucose, starch and other corn byproducts. Cienfuegos, Cuba

RESUMEN Fundamento el ruido se incluye dentro de los cinco principales factores de riesgo de naturaleza física para la salud en el medio laboral. Objetivo determinar si la contaminación acústica de la Empresa Productora y Comercializadora de Glucosas, Almidón y Derivados del Maíz, de Cienfuegos sobrepasa los valores máximos admisibles establecidos en la NC 871/11 de Seguridad y Salud en el trabajo. Métodos se realizó un estudio descriptivo, transversal en la Empresa Productora y Comercializadora de Glucosas, Almidón y Derivados del Maíz de Cienfuegos, en el mes de febrero de 2018. En la empresa laboraban 287 trabajadores, de ellos 247 directos a la producción. Las mediciones del nivel sonoro en el área de trabajo se realizaron según la metodología que establece la Norma Cubana vigente NC 19-01-14/83. Se analizaron las variables: nivel sonoro equivalente continuo, expresado en decibeles (dB(A)) y el tiempo de exposición (en horas). Para medir el ruido se utilizó un sonómetro integrador clase 2. Las mediciones se realizaron durante la jornada laboral. Resultados en el generador de vapor, caldera de compresores, área de molinación y generación, recepción de maíz y limpieza, empaque fábrica de pienso, secadores y centrífugas los niveles de ruido sobrepasan los 90 db(a) de exposición. En los previos 2 y 3 del área molinación y generación, los niveles de ruido fueron superiores a los 100 db(a) de exposición. Conclusiones: los niveles de ruido encontrados sobrepasan el valor máximo admisible, lo que pudiera ocasionar consecuencias nocivas en la salud de los trabajadores por lo que se hace necesario intervenir en este medio laboral.

ABSTRACT Foundation: noise is included among the 5 risk factors of physical origin for health in the working environment. Objective: to determine if sound pollution at the Cienfuegos Manufacturing and Marketing Company of glucose, starch and other corn byproducts, exceeds maximum admissible values on NC 871/11 of Health Safety and Health at Work. Methods: a cross descriptive study at the Cienfuegos Manufacturing and Marketing Company of glucose, starch and other corn byproducts was conducted, on February 2018. A number of 287 persons were working, out of them 247 directly in production processes. Measurements of sound levels in the working areas were done according to the valid Cuban standard NC 19-01-14/83. Variables continues equivalent sound level, express in decibels (dB(A) and time of exposure in hours. To measure noise, it was used and integrative sonometer type 2. Measurements were done the during working hours. Results: in the steam generator, compressor boiler, grinding and generation areas, corn reception and cleaning, animal feed factory, dryers and centrifugal equipment noise levels exceed 90 db (a) of exposition. Conclusion: the levels of noise found exceed the admissible maximum which might produce harmful health consequences on workers therefore it is necessary to intervene this working environment

The prevalence of pre-operative anaemia and an examination of its effect on transfusion practice between sexes: A multicentre retrospective study.

Pre-operative anaemia affects one third of patients presenting for surgery and is associated with increased peri-operative morbidity and mortality. Most studies on this subject make a distinction in acceptable haemoglobin level between sexes. We analysed data for patients undergoing major elective surgery, with pre-operative anaemia defined as haemoglobin <13 g/dL. Data was collected for 1074 patients, of whom 411 (38.3%) had pre-operative anaemia. The odds of red cell transfusion were significantly higher in patients with pre-operative anaemia, OR = 4.35 [95%CI OR: 3.0- 6.2]. Additional binary logistic regression results identified haemoglobin level, male gender and increasing age as independent predictors for red cell transfusion. The length of post-operative stay was also significantly higher in anaemic patients, those with lower haemoglobin, males and older patients. Women were twice as likely to have a haemoglobin < 13 g/dl as men. Women were also 3.55 times more likely not to be transfused despite being anaemic. This suggests differences in clinician's attitudes to transfusion limits in women, despite Blaudszun et al. 2018 showing that women with borderline anaemia (Hb 12-12.9 g/dL) are: more likely to be transfused; to be transfused more units of red cells; and to have longer lengths of hospital stay than non- anaemic women. A change in attitude to acceptable haemoglobin in women is needed. Increased clinician awareness of the associated morbidity of even a mild reduction in haemoglobin in women is required to result in more pro-active anaemia management pre-operatively and less allogenic red cell transfusion, shorter lengths of hospital stay and overall decreased morbidity.

404 Porous titanium revision shells permit early weight-bearing and rapid rehabilitation in revision hip surgery.

An aging population and younger primary arthroplasty candidates have led to increased demand for acetabular bone deficient revision hip surgery. Seventy consecutive revision arthroplasty porous titanium shells prior to December 2011 were reviewed. We sought to determine evidence of implant instability in a cohort of patients that are mobilised early. Radiological data were analysed for stability. Primary endpoint was revision of implant. Mean age at surgery was 69.9 (±10) years. Median time since primary surgery was 13 years (range: 0.3-37). Forty-nine per cent had Paprosky Type IIb or greater acetabular deficiency. Bone graft and augments were not used. One shell was revised for ingrowth failure. Mean acetabular inclination was 35.4 ̊ (±7.3) post- operatively and 36.9 ̊ (±7.28) at latest follow up. There were no screw fractures. Porous titanium shells in revision arthroplasty are stable and permit rapid rehabilitation.

Knowledge of palliative care and attitudes towards nursing the dying patient.

AIMS: This study examines the palliative care knowledge and attitudes towards caring for the dying patient of nurses working in care of older people settings in one rural region in Ireland. DESIGN: A cross-sectional survey design was used combining two questionnaires: the palliative care quiz for nurses (PCQN) and the thanatophobia scale (TS). RESULTS: A total of 61 nurses completed the questionnaire. There was a significant correlation found between level of knowledge and attitudes towards palliative care (p=0.007), highlighting that as participants' level of palliative care knowledge increased, attitudes become more positive. While palliative care training did not impact on the mean overall scores, there was a significant difference in the PCQN scores of those who had completed the European Certificate in Essential Palliative Care (ECEPC) compared with those who had attended information sessions within their unit. Furthermore, increasing years as a registered nurse improved palliative care knowledge and attitudes towards caring for the dying. CONCLUSION: Nurses who completed the ECEPC had better knowledge of palliative care when compared with nurses who had not undertaken the programme. This article also considers areas of focus for palliative care training.

Applying current screening tools for gestational diabetes mellitus to a European population: is it time for change?

OBJECTIVE: The optimal screening regimen for gestational diabetes mellitus (GDM) remains controversial. Risk factors used in selective screening guidelines vary. Given that universal screening is not currently adopted in our European population, we aimed to evaluate which selective screening strategies were most applicable. RESEARCH DESIGN AND METHODS: Between 2007 and 2009, 5,500 women were universally screened for GDM, and a GDM prevalence of 12.4% using International Association of Diabetes in Pregnancy Study Groups (IADPSG) criteria was established. We retrospectively applied selective screening guidelines to this cohort. RESULTS: When we applied National Institute for Health and Clinical Excellence (NICE), Irish, and American Diabetes Association (ADA) guidelines, 54% (2,576), 58% (2,801), and 76% (3,656) of women, respectively, had at least one risk factor for GDM and would have undergone testing. However, when NICE, Irish, and ADA guidelines were applied, 20% (120), 16% (101), and 5% (31) of women, respectively, had no risk factor and would have gone undiagnosed. Using a BMI≥30 kg/m2 for screening has a specificity of 81% with moderate sensitivity at 48%. Reducing the BMI to ≥25 kg/m2 (ADA) increases the sensitivity to 80% with a specificity of 44%. Women with no risk factors diagnosed with GDM on universal screening had more adverse pregnancy outcomes than those with normal glucose tolerance. CONCLUSIONS: This analysis provides a strong argument for universal screening. However, if selective screening were adopted, the ADA guidelines would result in the highest rate of diagnosis and the lowest number of missed cases.

Increases in triglyceride levels are associated with clinical response to clozapine treatment.

Increases in serum triglyceride (TG) levels are associated with clinical response to clozapine treatment. Clozapine is the most efficacious therapy for treatment of refractory schizophrenia, although its use is well recognised to be associated with substantial metabolic dysfunction. Interestingly, there is some evidence that the therapeutic benefit of clozapine is associated with treatment-emergent weight gain and dyslipidaemia, specifically hypertriglyceridaemia. In this prospective observational study, we examine associations between therapeutic response to clozapine in 49 patients with treatment-resistant schizophrenia and lipid dysregulation. An increase in TG levels was strongly predictive of clinical improvement (B=9.33, t =3.56, df=4, p<0.001) and of improvement in positive PANSS scores (B=2.85, t=3.61, df=4, p=0.001) as well as negative PANSS scores (B=1.93, t=2.36, df=4, p=0.02), when controlling for potential confounds of weight gain, change in waist circumference, baseline antipsychotic polypharmacy and serum clozapine levels. This finding suggests that clozapine's therapeutic efficacy is linked to serum lipid changes. Hypertriglyceridaemia as a predictor of clinical response in patients treated with clozapine merits further investigation in order to better elucidate its effect on the pharmacological activity of clozapine.

Illness representations in patients with hand injury.

PURPOSE: Differences in illness perception about hand injury may partly explain the variation in health behaviours such as adherence to post-operative therapy, coping strategy, emotional response and eventual clinical outcome. This study examined the illness perception of patients with hand injuries in the acute trauma setting. METHODS: The disability and severity of injury were assessed using the Disability of the Arm, Shoulder and Hand (DASH) questionnaire and the Hand Injury Severity Score (HISS). The revised Illness Perception Questionnaire (IPQ-R) was used to explore patients' illness beliefs and perception on hand injury. RESULTS: Fifty seven patients were recruited over the 2 month period. The IPQ-R showed good internal reliability (Cronbach's alpha, 0.68-0.86). There was no correlation between the DASH or HISS scores and the various components of the IPQ-R scores, suggesting that illness perceptions were not influenced by the recent trauma experience. Patients with dominant hand injuries and females reported significantly higher subjective disability. Younger patients believed their injury would last for a limited duration but reported a significantly higher number of related symptoms. Overall, the cohort was optimistic about their treatment and duration of recovery (high treatment control score and low time line score). Beliefs of negative consequences, chronic/cyclical duration and low illness coherence were linked with negative emotional response. High illness identity was associated with perception of pessimistic outcome (high consequences score) and negative emotional response. CONCLUSIONS: The lack of correlations suggests that illness perceptions of patients do not necessarily relate to the recent trauma experience or the severity of their hand injury. Patients in this cohort were optimistic about treatment and their recovery. There was some evidence to suggest that patients with severe injury were over-optimistic about recovery. These findings suggest that there could be a role for psychological intervention in hand injury.

Suicidios reportados en el área Metropolitana occidente de Santiago 1997 / Suicide reported cases at Santiago, western metropolitan area, 1997

Del total de casos de suicidio informados en el año 1997 en el Area Metropolitana Occidente de Santiago (n=86), se encontró diferencias significativas en relación con la estación del año, correspondiendo, 23 casos en verano, 25 en otoño, 19 en invierno y 19 en primavera. Los métodos de suicidio más comúnmente usados fue asfixia por ahorcamiento y herida por bala, 68,6 por ciento y 12,8 por ciento, respectivamente. La cifra de casos con alcoholemia > 0,5 mg/dl, alcnzó al 33,72 por ciento del total

Citología cervical en dos estratos socioeconómicos / Cervical cytology in 2 socioeconomic classes

Se analizan en forma retrospectiva los resultados de los informes de citología cervical de 2.018 pacientes, de los cuales 1.009 casos de una consulta privada, del Sector Oriente de Santiago y 1.009 casos concurrentes al Consultorio Externo de Ginecología del Hospital San Juan de Dios. Se abordaron las siguientes variables; resultado de citología cervical (maligna o inflamatoria), edad, paridad, uso de métodos anticonceptivos (dispositivos intrauterinos o anticonceptivos hormonales). Se encontró una clara diferencia entre ambos grupos, teniendo el grupo socioeconómico alto una mayor incidencia de citología maligna 1,7% (17 casos) frente a un 0,1% registrado en la clientela hospitalaria (1 caso). En relación a estos 17 casos, se evidenció una alta proporción de estados incipientes (NIE I:82,4%); su promedio de edad fue de 34 años y a menor paridad hubo menor incidencia de citologías malignas. Se comprobó que el 71% de estas pacientes utilizaba métodos anticonceptivos pero no se encontró diferencia entre las usuarias de DIU y de anticonceptivos hormonales. La citología inflamatoria predominó en el grupo hospitalario 62,8% (n=635) frente a un 10,4% (n=109) en los casos de consulta privada

Morbimortalidad por anomalías congénitas: Hospital San Juan de Dios 1983-1987 / Morbidity and mortality due to congenital abnormalities in Hospital San Juan de Dios discharges 1983-1987

A través de un estudio descriptivo y retrospectivo de los egresos ocurridos en el Hospital San Juan de Dios entre 1983 y 1984 es establece el impacto de las anomalías congénitas. Estas representaron el 1,6% de los egresos hospitalarios y su letalidad fue de 4,85%. El 75,2% de las muertes por anomalías congénitas se acumularon en menores de un año. La frecuencia de las anomalías fue mayor en los hombres (57,2%) pero la mortalidad fue mayor en las mujeres (58,1%). Las anomalías congénitas más frecuentes fueron las génitourinarias (37,8%) las que tuvieron un amplio predominio en el sexo masculino (3,86 hombres por cada mujer)