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OBJECTIVE: This systematic review evaluates all published studies comparing biologic and synthetic meshes in implant-based breast reconstruction (IBBR), to determine which category of mesh produces the most favorable outcomes. SUMMARY BACKGROUND DATA: Breast cancer is the most common cancer in women globally. Implant-based breast reconstruction is currently the most popular method of postmastectomy reconstruction, and recently, the use of surgical mesh in IBBR has become commonplace. Although there is a long-standing belief among surgeons that biologic mesh is superior to synthetic mesh in terms of surgical complications and patient outcomes, few studies exist to support this claim. METHODS: A systematic search of the EMBASE, PubMed, and Cochrane databases was performed in January 2022. Primary literature studies comparing biologic and synthetic meshes within the same experimental framework were included. Study quality and bias were assessed using the validated Methodological Index for Non-Randomized Studies criteria. RESULTS: After duplicate removal, 109 publications were reviewed, with 12 meeting the predetermined inclusion criteria. Outcomes included common surgical complications, histological analysis, interactions with oncologic therapies, quality of life measures, and esthetic outcomes. Across all 12 studies, synthetic meshes were rated as at least equivalent to biologic meshes for every reported outcome. On average, the studies in this review tended to have moderate Methodological Index for Non-Randomized Studies scores. CONCLUSION: This systematic review offers the first comprehensive evaluation of all publications comparing biologic and synthetic meshes in IBBR. The consistent finding that synthetic meshes are at least equivalent to biologic meshes across a range of clinical outcomes offers a compelling argument in favor of prioritizing the use of synthetic meshes in IBBR.
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Productos Biológicos , Implantes de Mama , Neoplasias de la Mama , Mamoplastia , Humanos , Femenino , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/tratamiento farmacológico , Calidad de Vida , Mastectomía , Mamoplastia/efectos adversos , Mamoplastia/métodos , Implantes de Mama/efectos adversos , Mallas Quirúrgicas/efectos adversosRESUMEN
BACKGROUND: The rate for periprosthetic joint infection (PJI) exceeds 1% for primary arthroplasties. Over 30% of patients who have a primary arthroplasty require an additional arthroplasty, and the impact of PJI on this population is understudied. Our objective was to assess the prevalence of recurrent, synchronous, and metachronous PJI in patients who had multiple arthroplasties and to identify risk factors for a subsequent PJI. METHODS: We identified 337 patients who had multiple arthroplasties and at least 1 PJI that presented between 2003 and 2021. The mean follow-up after revision arthroplasty was 3 years (range, 0 to 17.2). Patients who had multiple infected prostheses were categorized as synchronous (ie, presenting at the same time as the initial infection) or metachronous (ie, presenting at a different time as the initial infection). The PJI diagnosis was made using the MusculoSkeletal Infection Society (MSIS) criteria. RESULTS: There were 39 (12%) patients who experienced recurrent PJI in the same joint, while 31 (9%) patients developed PJI in another joint. Positive blood cultures were more likely in the second joint PJI (48%) compared to recurrent PJI (23%) or a single PJI (15%, P < .001). Synchronous PJI represented 42% of the second joint PJI cases (n = 13), while metachronous PJI represented 58% (n = 18). Tobacco users had 75% higher odds of metachronous PJI (odds ratio 1.75, 95% confidence interval: 1.1-2.9, P = .041). CONCLUSION: Over 20% of the patients with multiple arthroplasties and a single PJI will develop a subsequent PJI in another arthroplasty with 12% recurring in the initial arthroplasty and nearly 10% ocurring in another arthroplasty. Particular caution should be taken in patients who use tobacco, have bacteremia, or have Staphylococcus aureus isolation at time of their initial PJI. Optimizing the management of this high-risk patient population is necessary to reduce the additional burden of subsequent PJI. LEVEL OF EVIDENCE: Prognostic Level IV.
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Artritis Infecciosa , Artroplastia de Reemplazo de Cadera , Artroplastia de Reemplazo de Rodilla , Infecciones Relacionadas con Prótesis , Humanos , Artroplastia de Reemplazo de Cadera/efectos adversos , Estudios Retrospectivos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Artritis Infecciosa/etiología , Factores de Riesgo , Infecciones Relacionadas con Prótesis/epidemiología , Infecciones Relacionadas con Prótesis/etiología , Infecciones Relacionadas con Prótesis/diagnóstico , Reoperación/efectos adversosRESUMEN
Ataxia pancytopenia (ATXPC) syndrome due to gain-of-function pathogenic variants in the SAMD9L gene has been described in 38 patients to date. It is characterized by variable neurological and hematological phenotypes including ataxia, pyramidal signs, cytopenias, and hematological malignancies. Peripheral neuropathy with slowing of conduction velocities has been reported in only two affected individuals. We describe a female with childhood onset neuropathy diagnosed as Charcot-Marie-Tooth disease type 1 with onset of cerebellar ataxia in her 50s. Cerebellar, pyramidal, and neuropathic features were found on examination. Additionally, she also had conjunctival telangiectasia. Nerve conduction studies confirmed a demyelinating neuropathy. MRI brain showed cerebellar atrophy with diffuse white matter hyperintensities. OCT demonstrated global thinning of the retinal nerve fiber layer (RNFL). Full blood count has always been normal. A previously described pathogenic variant in SAMD9L [c.2956C>T p.(Arg986Cys)] was identified on whole exome sequencing. This case extends the previously described phenotype to include conjunctival telangiectasia and RNFL thinning and suggests that ATXPC syndrome should be considered in the differential for inherited demyelinating neuropathies.
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Ataxia Cerebelosa/genética , Enfermedad de Charcot-Marie-Tooth/genética , Pancitopenia/genética , Proteínas Supresoras de Tumor/genética , Ataxia Cerebelosa/patología , Ataxia Cerebelosa/fisiopatología , Enfermedad de Charcot-Marie-Tooth/patología , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Femenino , Mutación con Ganancia de Función , Humanos , Persona de Mediana Edad , Polirradiculoneuropatía/genética , Polirradiculoneuropatía/patología , Polirradiculoneuropatía/fisiopatología , Síndrome , Telangiectasia/genética , Telangiectasia/patología , Telangiectasia/fisiopatologíaRESUMEN
BACKGROUND: The NHS Mental Health Implementation Plan aims to reduce length of inpatient psychiatric stays to a maximum of 32 days, yet provides little guidance on how to achieve this. Previous studies have attempted to analyse factors influencing length of stay in mental health units, focussing mostly on patient factors. These models fail to sufficiently explain the variation in duration of inpatient stay. We assess how the type of service delivered by a trust, in addition to patient factors, influences length of stay. METHODS: We conducted a retrospective case cohort study in a large inner-city NHS mental health trust for all admissions in a 1 month period. Data was gathered from electronic notes of 105 patients. Descriptive univariate and bivariate analyses were conducted on the data, with multiple regression analysis conducted on statistically significant data. RESULTS: Short-stay assessment ward admission significantly reduced length of stay. Patients under outpatients or under care co-ordination, admitted through Mental Health Act assessment and formally detained all had longer length of stay. Out of area admissions, locum Consultant care, changing Responsible Clinician and ward transfers all led to longer length of stay. Factors indicating more severe illness such as increased observation level and polypharmacy, as well as diagnoses of psychosis or bipolar disorder were associated with longer duration of stay. Discharges requiring referral to accommodation or rehabilitation led to longer stays. The most significant factors that influenced length of stay were higher observation levels, diagnosis of psychotic illness or bipolar, and discharge to rehabilitation placement. The final model, taking into account all these factors, was able to account for 59.6% of the variability in length of stay. CONCLUSIONS: The study backs up existing literature which shows patient-factors have an influence on length of stay. The study also demonstrates that service-level factors have an impact on the duration of stay. This data may be used to inform further studies which may aid provision of inpatient and community services in the future.
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Trastornos Mentales , Servicios de Salud Mental , Estudios de Cohortes , Humanos , Pacientes Internos , Tiempo de Internación , Trastornos Mentales/terapia , Estudios RetrospectivosRESUMEN
The objective was to determine plasma levels of pro- (IL-12p70/IL-6) and anti-inflammatory (IL-10) cytokines before and after cycle ergometer training in healthy control (HC) and people with multiple sclerosis (pwMS), and to correlate plasma cytokines with physical/mental health. Study participants cycled for 30 min at 65-75% age-predicted maximal heart rate, twice a week for 8 weeks during supervised sessions. We determined that plasma IL-10 expression was lower in pwMS, compared to HCs, and that exercise augmented IL-10 in pwMS to baseline levels in HCs. Furthermore, plasma isolated from pwMS displayed enhanced expression of the pro-inflammatory cytokines IL-12p70/IL-6. Plasma cytokine signatures correlated with physical/mental health. Overall, this study highlights the potential of a short-term exercise programme to regulate circulating cytokine profiles with relevance to pwMS.
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Ciclismo , Terapia por Ejercicio/métodos , Interleucina-10/sangre , Esclerosis Múltiple/sangre , Esclerosis Múltiple/terapia , Adulto , Ciclismo/fisiología , Ergometría , Humanos , Subunidad p35 de la Interleucina-12/sangre , Interleucina-6/sangreRESUMEN
Following publication the authors informed the Journal that the published version of this article contained a mistake. All occurrences of pg/µl found in the original article should be changed to pg/L. The original article has been corrected. The correction has no impact on the conclusions drawn in the manuscript.
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OBJECTIVES: Few studies have reported on the utility and efficacy of laparoscopic colectomy in the paediatric population. We aim to compare the characteristics and outcomes of children with inflammatory bowel disease (IBD) who underwent open vs laparoscopic treatment at our centre. METHODS: A 10-year retrospective review was performed. Collected data included demographics, indication for surgery, operative characteristics, histopathology results, post-operative course and peri-operative complications. RESULTS: A total of 58 patients underwent subtotal colectomy for IBD, with 38 laparoscopic procedures. The cohort included 33 males and 25 females with a mean age at surgery of 12.9 ± 3.3 years. The pre-operative diagnosis was ulcerative colitis in n = 41, Crohn's disease in n = 5 and indeterminate colitis in n = 11. There was an 84.2% concordance between the pre-operative and the post-operative histological diagnoses. Overall, 34 (58.6%) patients had complications, of which 19 (32.7%) patients required return to theatre. The complication rate was significantly smaller for laparoscopic compared to open procedures (42.1% vs 75%) as well as for elective compared with emergency colectomies (38.4% vs 75%). Four patients (10.5%) required conversion to open approach. CONCLUSIONS: Laparoscopic approach is feasible and safe in most paediatric patients with IBD and has a lower complication rate and better recovery than open procedures, especially when performed in an elective setting.
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Colectomía/métodos , Enfermedades Inflamatorias del Intestino/cirugía , Laparoscopía , Niño , Estudios de Cohortes , Conversión a Cirugía Abierta/estadística & datos numéricos , Procedimientos Quirúrgicos Electivos , Femenino , Humanos , Masculino , Complicaciones Posoperatorias , Reoperación/estadística & datos numéricos , Estudios RetrospectivosRESUMEN
In this pilot study, we investigate whether a routine cycle ergometry training programme has therapeutic potential in individuals with multiple sclerosis (MS) by improving quality of life (QOL) and depressive symptomatology, while ameliorating cognitive disturbances. Healthy volunteers and MS patients cycled for 30 min at 65-75% age-predicted maximal heart rate on a recumbent ergometer, with this session repeated twice a week for 8 weeks. QOL, depressive symptomatology and cognitive function were assessed pre- and post-exercise using the MS Quality of Life-54 (MSQOL-54) questionnaire, 16-item Quick Inventory of Depressive Symptomatology (QIDS-SR16) questionnaire and the Cambridge Neuropsychological Test Automated Battery (CANTAB), respectively. We determined that QOL was lower in MS patients, compared to healthy subjects, with a reduction in physical and mental health summary scores observed. Exercise improved both physical and mental health scores in MS patients. In support of this, exercise was shown to reduce depressive symptomatology in MS patients. Exercise was also associated with an improvement in visual sustained attention, executive function/cognitive flexibility and hippocampal-dependent visuospatial memory in patients. Overall, this study identifies a short-term exercise programme that improves physical and mental health, while reducing depressive symptomatology and cognitive dysfunction in MS.
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Cognición , Depresión/terapia , Terapia por Ejercicio , Esclerosis Múltiple/psicología , Esclerosis Múltiple/terapia , Calidad de Vida , Adulto , Índice de Masa Corporal , Peso Corporal , Depresión/fisiopatología , Ejercicio Físico/psicología , Terapia por Ejercicio/instrumentación , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Masculino , Esclerosis Múltiple/fisiopatología , Pruebas Neuropsicológicas , Aptitud Física , Proyectos Piloto , Resultado del TratamientoRESUMEN
BACKGROUND: Esophageal bronchus is a rare form of communicating bronchopulmonary foregut malformation and a rare but important cause of an opaque hemithorax on chest radiography. A higher incidence of esophageal bronchus is associated with esophageal atresia, tracheo-esophageal fistula (TEF) and VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. In the presence of these conditions, the pediatric radiologist may be the first to consider the diagnosis of esophageal bronchus or esophageal lung. OBJECTIVE: To describe the imaging features in five children with esophageal bronchus. MATERIALS AND METHODS: We reviewed hospital records and teaching files at two large pediatric tertiary referral centers over the 24-year period from January 1992 to January 2016. We reviewed all imaging studies and tabulated findings on radiography, fluoroscopic upper gastrointestinal (GI) series and CT. We then described the imaging features of esophageal bronchi with emphasis on CT and upper GI findings in four infants and one toddler. RESULTS: Three cases were identified from one institution (cases 2, 3, 4) and two from another (cases 1, 5). All five cases occurred in association with other midline malformations: four of the five had VACTERL association and three of the five had esophageal atresia and TEF. CONCLUSION: Lung opacification, ipsilateral mediastinal shift, and an abnormal carina and anomalous vascular anatomy suggest an esophageal bronchus or an esophageal lung on CT. While esophageal bronchus is a rare cause of an opaque hemithorax, CT and upper GI imaging play key roles in its diagnosis. Associations with esophageal atresia with tracheo-esophageal fistula and VACTERL association are particularly pertinent. Early diagnosis of esophageal bronchus might prevent complications such as aspiration and infection, which can allow for parenchymal sparing surgery as opposed to pneumonectomy.
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Bronquios/anomalías , Bronquios/diagnóstico por imagen , Esófago/anomalías , Esófago/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Canal Anal/anomalías , Canal Anal/diagnóstico por imagen , Atresia Esofágica/diagnóstico por imagen , Femenino , Fluoroscopía , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Riñón/anomalías , Riñón/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Masculino , Estudios Retrospectivos , Columna Vertebral/anomalías , Columna Vertebral/diagnóstico por imagen , Tráquea/anomalías , Tráquea/diagnóstico por imagen , Fístula Traqueoesofágica/diagnóstico por imagenRESUMEN
BACKGROUND: Children with intussusception require rapid and accurate diagnosis to enable timely intervention for satisfactory outcome. Ultrasonography is the recommended standard diagnostic modality; however, abdominal radiography (AR) is still used as an initial investigation. The aim of this study was to investigate the benefit of AR in intussusception by determining diagnostic accuracy and analysing correlation of AR findings with outcome. METHODS: Index cases of intussusception presenting over 15 years (1998-2013) were analysed. Those who had AR performed were allocated into groups with positive or normal findings. Outcome of pneumatic reduction of intussusception (PRI) between these groups was compared. RESULTS: Six hundred and forty-four cases of intussusception treated with PRI were identified, 412 (64 %) had AR performed and 232 (36 %) did not. 303 (74 %) radiographs had positive findings and 109 (26 %) were normal. The success rate of PRI did not differ between AR positive (82 %) and AR normal (84 %). Occult pneumoperitoneum was not detected in any patient by AR in our cohort. CONCLUSION: AR is not recommended for the diagnosis of intussusception in children, for the prediction of the outcome of PRI or for the detection of occult pneumoperitoneum. AR should always be performed when clinical peritonism is present but is not otherwise necessary in children with suspected or confirmed intussusception.
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Intususcepción/diagnóstico , Radiografía Abdominal , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
BACKGROUND: Cork University Hospital acts as the tertiary referral centre for the HSE southern area, with a catchment population of 1.2 million [1]. The neurology registrars receive telephone consultations from hospitals and primary care practices in the region. While there have been a number of studies examining inpatient neurology consultations in Irish hospitals [2-6], there is a paucity of data examining the support provided by tertiary referral centres to other acute hospitals and primary care centres in their region. AIMS: The aim of this study is to define the workload of the neurology registrar with respect to telephone consultations and to examine the quality of these referrals. METHODS: All calls received from the 19th of October 2021 to the 25th of February 2022 were logged by the receiving registrar. Information collected pertained to the nature of the consult and completeness of the referral. RESULTS: The average volume of calls during the study period was six per week. The median call duration was 8 min. The cumulative time spent resolving outside calls during the study period was at least 41.25 hours. Sixty-three per cent of calls were from other acute hospitals in the region. Thirty-nine per cent of referrals were deemed incomplete with respect to either history, collateral history or examination. CONCLUSIONS: This is a necessary service in a system that is not adequately resourced to provide specialist led care in all hospitals. A greater emphasis on complete and accurate referrals, along with robust communication and documentation, could reduce the inherent risk associated with such consultations.
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Neurología , Derivación y Consulta , Humanos , Centros de Atención Terciaria , Teléfono , ComunicaciónRESUMEN
BACKGROUND: Acute appendicitis is the most common surgical emergency in children. Eighty percent of paediatric appendicectomies are performed by adult general surgeons on an annual basis. The remaining 20% are performed at Children's Health Ireland (CHI) centres. Occasionally patients are transferred from Non-Specialist Paediatric Surgical Centres (NSPSC) for specialised pre-operative or post-operative care. AIM: To assess the rates of and characterise appendicitis-related referrals to CHI at Crumlin from NSPSC. METHODS: A retrospective review of all appendicitis-related transfers to CHI at Crumlin between January 2020 and December 2021 was performed. Data relating to indications for transfer, referring hospital level, patient demographics, management, type of surgery, length of stay (LOS), and radiological studies were collected and analysed. RESULTS: Seventy-two patients were transferred to CHI at Crumlin over the 2-year period. A total of 60.9% were male, mean age 9 ± 4.3 years, mean LOS 6.0 ± 2.2 days (range 1-30 days). Nineteen percent were under 5 years of age. Seventy-three percent were transferred from level 4 centres. Ninety-seven percent were transferred pre-operatively, 25% of those transferred pre-operatively had imaging in CHI confirming appendicitis. Fifty-five percent (40/72) of patients had pre-operative imaging performed. A total of 37.5% (15/40) confirmed complicated appendicitis. Twenty percent (8/40) underwent both ultrasound and computerised tomography (CT) at the referring centre. A total of 2.7% (2/72) were transferred with known co-morbidities. Ninety-two percent (66/72) underwent appendicectomy. Eight percent (6/72) were managed non-operatively (NOM) - 2 failed NOM, 2 underwent interval appendicectomy. Of those managed operatively, 76% (50/66) underwent laparoscopic appendicectomy, and 24% (16/66) were performed open. CONCLUSION: The majority of paediatric appendicectomies are performed at Non-Specialist Paediatric Surgical Centres. It is vital to maintain this working relationship so that specialist paediatric centres are available to provide care to complex paediatric patients.
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Apendicitis , Laparoscopía , Adulto , Niño , Humanos , Masculino , Recién Nacido , Femenino , Apendicitis/diagnóstico por imagen , Apendicitis/cirugía , Salud Infantil , Irlanda/epidemiología , Derivación y Consulta , Hospitales , Apendicectomía/métodos , Estudios Retrospectivos , Laparoscopía/métodosRESUMEN
Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although MBD5 haploinsufficiency may also cause this genetic disorder. We report a family harboring a heterozygous loss-of-function variant in MBD5 (NM_018328.5:c.728delC; p.Pro243Hisfs*26), which includes three affected siblings with varying phenotypic features. Both parents were phenotypically normal but deep coverage sequencing of the parents showed germline mosaicism in the mother.
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Discapacidad Intelectual , Trastornos del Neurodesarrollo , Humanos , Proteínas de Unión al ADN/genética , Haploinsuficiencia/genética , Mosaicismo , Discapacidad Intelectual/genéticaRESUMEN
Importance: Longer time to surgery (TTS) for hip fractures has been associated with higher rates of postoperative complications and mortality. Given that more than 300â¯000 adults are hospitalized for hip fractures in the United States each year, various improvement programs have been implemented to reduce TTS with variable results, attributed to contextual patient- and system-level factors. Objective: To catalog TTS improvement programs, identify their results, and categorize program strategies according to Expert Recommendations for Implementing Change (ERIC), highlighting components of successful improvement programs within their associated contexts and seeking to guide health care systems in implementing programs designed to reduce TTS. Evidence Review: A systematic review was conducted per the Preferred Reporting Items for Systematic Reviews and Meta-analyses guideline. Three databases (MEDLINE/PubMed, EMBASE, and Cochrane Trials) were searched for studies published between 2000 and 2021 that reported on improvement programs for hip fracture TTS. Observational studies in high-income country settings, including patients with surgical, low-impact, nonpathological hip fractures aged 50 years or older, were considered for review. Improvement programs were assessed for their association with decreased TTS, and ERIC strategies were matched to improvement program components. Findings: Preliminary literature searches yielded 1683 articles, of which 69 articles were included for final analysis. Among the 69 improvement programs, 49 were associated with significantly decreased TTS, and 20 programs did not report significant decreases in TTS. Among 49 successful improvement programs, the 5 most common ERIC strategies were (1) assess for readiness and identify barriers and facilitators, (2) develop a formal implementation blueprint, (3) identify and prepare champions, (4) promote network weaving, and (5) develop resource-sharing agreements. Conclusions and Relevance: In this systematic review, certain components (eg, identifying barriers and facilitators to program implementation, developing a formal implementation blueprint, preparing intervention champions) are common among improvement programs that were associated with reducing TTS and may inform the approach of hospital systems developing similar programs. Other strategies had mixed results, suggesting local contextual factors (eg, operating room availability) may affect their success. To contextualize the success of a given improvement program across different clinical settings, subsequent investigation must elucidate the association between interventional success and facility-level factors influencing TTS, such as hospital census and type, teaching status, annual surgical volume, and other factors.
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Fracturas de Cadera , Adulto , Atención a la Salud , Fracturas de Cadera/cirugía , Hospitalización , Hospitales , Humanos , Estados UnidosRESUMEN
A 23- year-man post female to male (FTM) gender transition was found to have bilateral papilloedema at a routine optician visit. The patient was referred on for formal ophthalmological and neurological assessments. Optical coherence tomography (OCT) confirmed the presence of bilateral papilloedema. The patient was entirely asymptomatic and had no medical history. He took testosterone intramuscularly once per month. Neurological examination was otherwise normal. Investigations including routine blood panels, CT brain, MRI brain and cerebral MR venogram were all normal. Lumbar puncture yielded cerebrospinal fluid (CSF) normal in appearance but demonstrated raised intracranial pressure. In the absence of other causative aetiologies a diagnosis of idiopathic intracranial hypertension (IIH) was made. Treatment was commenced with acetazolamide and the patient was discharged with outpatient ophthalmological and neurological follow-up.
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Hipertensión Intracraneal , Papiledema , Seudotumor Cerebral , Femenino , Humanos , Hipertensión Intracraneal/diagnóstico , Hipertensión Intracraneal/etiología , Masculino , Papiledema/diagnóstico , Papiledema/etiología , Seudotumor Cerebral/diagnóstico , Punción Espinal , Tomografía de Coherencia ÓpticaRESUMEN
Acquired vocal cord paralysis (VCP) is caused by dysfunction or injury of one or both recurrent laryngeal nerves. Here we report a 41-year-old man with spinocerebellar atrophy, autosomal recessive type 10 (SCAR10) due to an autosomal recessive mutation in the ANO10 gene, with VCP as the presenting symptom. He later developed ataxia and speech disturbance.
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Ataxias Espinocerebelosas , Parálisis de los Pliegues Vocales , Adulto , Humanos , Masculino , Mutación , Nervio Laríngeo Recurrente , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/diagnóstico por imagen , Ataxias Espinocerebelosas/genética , Parálisis de los Pliegues Vocales/etiologíaRESUMEN
OBJECTIVE: To assess the trends in visits, overall and by age, to urban and non-urban emergency departments (EDs), and visits resulting in admission to hospital before and during the COVID-19 pandemic using a large regional database. SETTING: A large regional database of 28 EDs during the COVID-19 pandemic in Michigan, with an index case of 11 March 2020 and peak in the first week of April. PARTICIPANTS: ED visits during the first 5 months of the calendar year were included and compared with the previous year. Facilities where these participants were seen were classified as urban or non-urban, with comparisons of total visits, COVID-like cases, paediatric and trauma. OUTCOME MEASURES: Daily visits to EDs of patients presenting with COVID-like symptoms, trauma, age patterns and total cases, and stratified between urban and non-urban settings. RESULTS: There were 1 732 852 visits across the 2 years, 953 407 between study and comparison periods, and 457 130 visits defined as COVID-like (median age 44 years). Total ED visits decreased to 48% of the previous year, showing a delayed-inverse relationship with COVID-19. Trauma cases dropped but returned to the pre-COVID-19 rate by the end of May in Urban centres. Paediatric cases decreased to 20% of the previous year by the end of April. The oldest age groups showed the least change in ED visits in response to the pandemic. CONCLUSIONS: This large US Midwestern state study describes a dramatic decrease in ED visits after the onset of the COVID-19 pandemic in Michigan, including stratification by varying ages and trauma, demonstrating the tangible impact of the COVID-19 pandemic on urban and non-urban EDs.
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COVID-19 , Servicio de Urgencia en Hospital/tendencias , Pandemias , Adulto , Niño , Hospitales , Humanos , Michigan/epidemiologíaRESUMEN
BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient ß-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population. CASES: We report an Irish family expanding the LOTS phenotype (ataxia, diffuse muscle wasting, dystonia, chorea, belly dancer's dyskinesia, and neuropsychiatric features) associated with the known HEXA variant 1073 + 1G > A and a novel variant c.459 + 24G > C. CONCLUSIONS: LOTS should be considered in patients with similar symptoms and cerebellar atrophy on brain imaging.