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1.
Adv Exp Med Biol ; 1448: 59-71, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39117808

RESUMEN

In the past two decades, there has been a great deal of work aimed to devise diagnostic guidelines, classification criteria, and diagnostic scores for cytokine storm syndromes (CSSs). The most notable effort has been the large-scale multinational study that led to the development of the 2016 classification criteria for macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (JIA). Future studies should scrutinize the validity of the proposed criteria, particularly in systemic JIA patients treated with biologics, in children with subtle or incomplete forms of MAS, and in patients with MAS complicating other rheumatologic disorders. More generic CSS criteria are also available but often lack sensitivity and specificity in a wide variety of patient populations and CSSs of different etiologies. The coronavirus disease 2019 (COVID-19)-related lung disease led to an evolution of the concept of a "cytokine storm." Emerging and unsolved challenges in the diagnosis of the different forms of CSSs highlight the need for diagnostic tools and well-established classification criteria to enable timely recognition and correct classification of patients.


Asunto(s)
COVID-19 , Síndrome de Liberación de Citoquinas , Humanos , COVID-19/inmunología , COVID-19/diagnóstico , COVID-19/complicaciones , Síndrome de Liberación de Citoquinas/inmunología , Síndrome de Liberación de Citoquinas/diagnóstico , Síndrome de Liberación de Citoquinas/etiología , Síndrome de Activación Macrofágica/diagnóstico , Síndrome de Activación Macrofágica/clasificación , Síndrome de Activación Macrofágica/inmunología , Artritis Juvenil/diagnóstico , Artritis Juvenil/clasificación , Artritis Juvenil/inmunología , Artritis Juvenil/tratamiento farmacológico , SARS-CoV-2/inmunología , Niño , Citocinas/metabolismo
2.
Pediatr Neurol ; 148: 65-72, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37672964

RESUMEN

AIMS: In a cohort of 45 children and adolescents diagnosed with idiopathic intracranial hypertension (IIH), our main aims were to investigate patient delay, lead time to final diagnosis, and adherence to current diagnostic guidelines. METHODS: This population-based, retrospective, single-center cohort study was performed at Uppsala University Children's Hospital, Sweden, a tertiary referral center for children and adolescents with rare and/or complicated neurologic disease. Patient data were retrieved from the local registries for patients filling the following criteria: age (0-17.99 yr), study period (2000-2020), and International Classification of Diseases code G93.2 (IIH). Medical records from pediatric, neuropediatric, ophthalmology, and neurosurgery departments were scrutinized. All included patients met the Friedman criteria. RESULTS: Fifty-one percent of the patients sought medical advice within 1 month of symptom debut, 23% were seen within 1 to three months, and 26% after three months. A final diagnosis of IIH was reached within 48 hours in 60%, within two weeks in 80%, and within four weeks in 89% of patients. Visual fields, color vision, and complete ancillary laboratory investigations to exclude secondary etiologies were performed in 62%, 47%, and 59% of patients, respectively. CONCLUSION: The clinical presentation of IIH in children and adolescents may range from acute fulminant symptoms, to a more insidious or even chronic presentation with long-term headache. Although a majority of patients received a correct and prompt diagnosis, lead time to final diagnosis and adherence to diagnostic care guidelines might be improved. A higher awareness and knowledge of the condition may achieve this.

3.
J Fluency Disord ; 76: 105974, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-37150093

RESUMEN

The purpose of this paper is to present a tutorial on a diagnostic framework developed to assess children who stutter and exhibit co-existing disorders. While we have guidelines for treating these children, there are no specific guidelines for assessing them. We provide a rationale for the development of T-PALS with support from the literature. The T-PALS framework assesses 5 foundational key elements for the child: Temperament (T), Pragmatics (P), Articulation/phonology (A), Language (L), and Stuttering (S). Both qualitative and quantitative measures are used within each dimension. This framework is discussed with reference to using two clinical case examples. T-PALS observation data are presented as well as treatment suggestions for each case. We conclude that T-PALS may be a useful framework for both clinicians and researchers, working with children who present with stuttering and comorbid conditions. Clinicians are encouraged to reach beyond the traditional focus on solely assessing the stuttering behavior, even when that is the main concern for referral, and to consider a broader view of the child. It is hoped that this more integrative approach to assessment may yield a more holistic diagnostic picture of a dual diagnosis child from which treatment goals can be derived.


Asunto(s)
Tartamudeo , Niño , Humanos , Tartamudeo/diagnóstico , Lenguaje , Temperamento , Lingüística , Logopedia/métodos
4.
Orphanet J Rare Dis ; 18(1): 81, 2023 04 12.
Artículo en Inglés | MEDLINE | ID: mdl-37046271

RESUMEN

BACKGROUND: Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due to the high cost of implementation. Instead, patients have limited access to services and testing options. Here, we evaluate the effectiveness of a limited genetic testing strategy and contrast the findings to a conceivable outcome if exome sequencing were available instead. RESULTS: A retrospective audit of 934 patient files presenting to a medical genetics clinic in South Africa showed that 83% of patients presented with developmental delay as a clinical feature. Patients could be divided into three groups, representing distinct diagnostic pathways. Patient Group A (18%; mean test cost $131) were confirmed with aneuploidies, following a simple, inexpensive test. Patient Group B (25%; mean test cost $140) presented with clinically recognizable conditions but only 39% received a genetic diagnostic confirmation due to limited testing options. Patient Group C - the largest group (57%; mean test cost $337) - presented with heterogenous conditions and DD, and 92% remained undiagnosed after limited available testing was performed. CONCLUSIONS: Patients with DD are the largest group of patients seen in medical genetics clinics in South Africa. When clinical features are not distinct, limited testing options drastically restricts diagnostic yield. A cost- and time analysis shows most patients would benefit from first-line exome sequencing, reducing their individual diagnostic odysseys.


Asunto(s)
Pruebas Genéticas , Discapacidad Intelectual , Humanos , Secuenciación del Exoma , Estudios Retrospectivos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética
5.
Chinese Journal of Trauma ; (12): 309-317, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-992603

RESUMEN

As the National Health Commission changes the management of novel corona virus infection, the situation and preventive policies for controlling the epidemic have also entered a new stage in China. Perioperative care strategies for orthopedic trauma such as designated isolation and nucleic acid test screening have also been adjusted in the new stage. Based on the perioperative work experiences in the new stage of epidemic from the frontline anti-epidemic staff of orthopedics in domestic hospitals and combined with the literature and relevant evidence-based medical data in perioperative care of orthopedic trauma patients under the current anti-epidemic policies at home and abroad, Chinese Orthopedic Association and Chinese Society of Traumatology organized relevant experts to formulate the Guideline for clinical perioperative care of orthopedic trauma patients in the new stage of novel corona virus infection ( version 2023). The guideline summarized 16 recommendations from the aspects of preoperative diagnosis and treatment, infection prevention, emergency operation and postoperative management to systematically standardize the perioperative clinical pathways, diagnosis and treatment processes of orthopedic trauma in the new stage of novel corona virus infection, so as to provide a guidance and reference for hospitals at all levels to carry out relevant work in current epidemic control policies.

6.
Front Endocrinol (Lausanne) ; 13: 840331, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35784581

RESUMEN

Objective: Since Asians are particularly vulnerable to the risk of gestational diabetes mellitus (GDM), the lifecourse health implications of which are far beyond pregnancy, we aimed to summarize the literature to understand the research gaps on current GDM research among Asians. Methods: We systematically searched the articles in PubMed, Web of Science, Embase, and Scopus by 30 June 2021 with keywords applied on three topics, namely "GDM prevalence in Asians", "GDM and maternal health outcomes in Asians", and "GDM and offspring health outcomes in Asians". Results: We observed that Asian women (natives and immigrants) are at the highest risk of developing GDM and subsequent progression to type 2 diabetes among all populations. Children born to GDM-complicated pregnancies had a higher risk of macrosomia and congenital anomalies (i.e. heart, kidney and urinary tract) at birth and greater adiposity later in life. Conclusion: This review summarized various determinants underlying the conversion between GDM and long-term health outcomes in Asian women, and it might shed light on efforts to prevent GDM and improve the lifecourse health in Asians from a public health perspective. Systematic Review Registration: Prospero, CRD42021286075.


Asunto(s)
Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Salud Poblacional , Pueblo Asiatico , Niño , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Gestacional/epidemiología , Diabetes Gestacional/etiología , Femenino , Macrosomía Fetal/epidemiología , Humanos , Recién Nacido , Embarazo
7.
Diagnostics (Basel) ; 11(7)2021 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-34359360

RESUMEN

Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.

8.
Ann Am Thorac Soc ; 18(10): 1601-1609, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34004127

RESUMEN

Diagnosis of interstitial lung disease (ILD) requires a multidisciplinary discussion approach that includes clinicians, radiologists, and pathologists. Surgical lung biopsy (SLB) is currently the recommended standard in obtaining pathologic specimens for patients with ILD requiring a tissue diagnosis. The increased diagnostic confidence and accuracy provided by microscopic pathology assessment of SLB specimens must be balanced with the associated risks in patients with ILD. This document was developed by the SLB Working Group of the Pulmonary Fibrosis Foundation, composed of a multidisciplinary group of ILD physicians, including pulmonologists, radiologists, pathologists, and thoracic surgeons. In this document, we present an up-to-date literature review of the indications, contraindications, risks, and alternatives to SLB in the diagnosis of fibrotic ILD; outline an integrated approach to the decision-making around SLB in the diagnosis of fibrotic ILD; and provide practical information to maximize the yield and safety of SLB.


Asunto(s)
Fibrosis Pulmonar Idiopática , Enfermedades Pulmonares Intersticiales , Fibrosis Pulmonar , Biopsia , Broncoscopía , Humanos , Fibrosis Pulmonar Idiopática/diagnóstico , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/diagnóstico
9.
J Med Philos ; 2021 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-33987668

RESUMEN

Discrepancies between the Uniform Determination of Death Act (UDDA) and the adult and pediatric diagnostic guidelines for brain death (BD) (the "Guidelines") have motivated proposals to revise the UDDA. A revision proposed by Lewis, Bonnie and Pope (the RUDDA), has received particular attention, the three novelties of which would be: (1) to specify the Guidelines as the legally recognized "medical standard," (2) to exclude hypothalamic function from the category of "brain function," and (3) to authorize physicians to conduct an apnea test without consent and even over a proxy's objection. One hundred seven experts in medicine, bioethics, philosophy, and law, spanning a wide variety of perspectives, have come together in agreement that while the UDDA needs revision, the RUDDA is not the way to do it. Specifically, (1) the Guidelines have a non-negligible risk of false-positive error, (2) hypothalamic function is more relevant to the organism as a whole than any brainstem reflex, and (3) the apnea test carries a risk of precipitating BD in a non-BD patient, provides no benefit to the patient, does not reliably accomplish its intended purpose, and is not even absolutely necessary for diagnosing BD according to the internal logic of the Guidelines; it should at the very least require informed consent, as do many procedures that are much more beneficial and less risky. Finally, objections to a neurologic criterion of death are not based only on religious belief or ignorance. People have a right to not have a concept of death that experts vigorously debate imposed upon them against their judgment and conscience; any revision of the UDDA should therefore contain an opt-out clause for those who accept only a circulatory-respiratory criterion.

10.
Front Psychiatry ; 12: 781992, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35002801

RESUMEN

Purpose: As a new category proposed in the International Classification of Diseases (11th Revision) (ICD-11), the reliability and clinical utility of ICD diagnostic guidelines for gaming disorder (GD) in the Chinese population have not been studied. The purpose of this field study is to clarify the reliability, clinical utility, and cultural applicability of ICD diagnostic guidelines for GD in China and its comparability with Internet GD (IGD) in the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) (DSM-5). Methods: Participants included 21 paired clinical raters consisting of seven psychiatrists and 200 gaming players aged from 15 to 18 years with different risk levels of Internet addiction based on the scores of Young's Internet Addiction Test. Each participant received a semi-structured face-to-face interview by paired clinical raters at the same time. Then clinical raters made the diagnosis and filled the clinical utility questionnaire independently according to the diagnostic guidelines for GD in both ICD-11 and DSM-5. Results: The diagnostic consistency coefficient (kappa value) between the paired clinical raters was 0.545 (0.490-0.600, p < 0.001) and 0.622 (0.553-0.691, p < 0.001) for ICD-11 and DSM-5 diagnostic guidelines, respectively, for GD. The diagnostic consistency was 0.847 (0.814-0.880, p < 0.001) between GD in ICD-11 and IGD in DSM-5. Meanwhile, 86.7% of responses that agreed with the ICD-11 diagnostic guidelines for GD provided enough detailed implementation characteristics and showed good overall clinical applicability (86.0%), specificity (94.4%), usefulness (84.1%), and acceptable cultural adaptation (74.8%). GD in ICD-11 was slightly more accepted than IGD in DSM-5 (p < 0.001), while the clinical efficiency of ICD-11 was inferior to that of DSM-5 (p < 0.001). Conclusion: This study indicates that the ICD-11 diagnostic guidelines for GD have acceptable clinical reliability and high consistency with IGD in DSM-5. Their clinical applicability and cultural adaption are comparable with those of DSM-5. Although the guidelines still need to be adjusted for better implementation in China, this is already a great step committed to reducing the serious consequences caused by excessive gaming behaviors through effective identification and normative diagnosis, especially for adolescents.

11.
Artículo en Inglés | MEDLINE | ID: mdl-33087940

RESUMEN

BACKGROUND AND AIM: Assessment of appropriateness of CT pulmonary angiograms (CTPA) in patients with suspected pulmonary embolism (PE) is based on risk stratification algorithms such as simplified the Geneva Score (sGS) in combination with D-dimer blood tests. The aim of this study was to validate the diagnostic yield and appropriateness of CTPA examinations in accordance with 2014 European Society of Cardiology (ESC) guidelines. MATERIALS AND METHODS: Data from 155 outpatients who underwent CTPA for clinical suspicion of PE were gathered from the radiology information system (RIS) and the clinical information system (CIS). We assessed the presence of sGS items and D-dimer blood test results in RIS from CTPA request forms and from clinical documentation in CIS. RESULTS: Based on the RIS, there were 2.6% patients with high (sGS≥3) and 97.4% patients with low pre-test PE probability (sGS<3), and CTPA indication was formally comprehendible in 75.5% using sGS and D-dimer blood tests. Based on RIS and CIS data in combination, there were 41.3% patients with high and 58.7% patients with low pre-test PE probability, and CTPA indication was formally comprehendible in 88.4%. Using RIS and CIS in combination, PE probability was upgraded from low to high probability in 39.7% compared with RIS alone. In 12.9%, there was a lack of data in RIS for CTPA justification. CONCLUSION: There is a high diagnostic yield when applying current diagnostic guidelines to our data. There was however a notable discrepancy between the data transferred to the CTPA request forms from the full clinical documentation, therefore not readily available for clinical decision making.


Asunto(s)
Angiografía por Tomografía Computarizada , Embolia Pulmonar/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Humanos , Masculino , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Embolia Pulmonar/sangre , Estudios Retrospectivos , Medición de Riesgo
12.
Proc (Bayl Univ Med Cent) ; 33(4): 586-591, 2020 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-33100533

RESUMEN

Hidradenitis suppurativa (HS) is a chronic, recurrent inflammatory skin condition resulting in the formation of nodules, sinus tracts, and abscesses typically in intertriginous regions. HS management is often difficult and involves a multimodal approach, evaluating the benefit of both medical and surgical treatment options, along with treating associated pain and medical comorbidities that present concomitantly with the disease. In this article, we synthesize for the nondermatology clinician the evidence for various HS treatments, along with the diagnostic and therapeutic guidelines for HS published by the British Association of Dermatologists, US and Canadian HS Foundations, HS ALLIANCE, Canadian Dermatology Association, and Brazilian Society of Dermatology. Management of HS requires an individualized, patient-centered approach due to the lack of rigorous evidence for many interventions.

13.
Bull Cancer ; 107(10): 963-971, 2020 Oct.
Artículo en Francés | MEDLINE | ID: mdl-32950242

RESUMEN

Soft tissue sarcomas in children are rare tumor, representing around 6 to 7% of children cancer. They spread mostly sporadically (90%) and therefore are rarely associated to an underlying constitutional genetic disease (10%). About half of those sarcomas are rhabdomyosarcomas and the others are a very heterogenous histologic group with various bio-pathologies and prognosis. Clinical presentation is mainly a soft tissue lump often difficult to distinguish from more frequent benign causes (malformative, infectious, benign, or pseudotumor). Inappropriate initial diagnosis work-up has a strong impact on soft tissue sarcomas' prognosis. Adapted complementary investigations (first ultrasound and MRI) are important to compile arguments for a malign origin and to indicate a biopsy. However, predictive value of imaging exams still remains imperfect, and histological analysis by percutaneous image-guided biopsy and sometimes by surgical biopsy is often necessary. Authors realize an update on optimal diagnostic pathway including molecular tests in presence of a soft tissue mass in a child.


Asunto(s)
Sarcoma/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Humanos
14.
Psychiatr Pol ; 54(1): 7-20, 2020 Feb 29.
Artículo en Inglés, Polaco | MEDLINE | ID: mdl-32447353

RESUMEN

In June 2018, WHO published the 11th edition of the International Classification of Diseases (ICD). The new edition introduced numerous changes. One of the most important was to rebuild the coding system and adapt ICD to digital use. A reconstruction of the coding system enabled more comprehensive alphanumeric coding of complex clinical situations by the introduction of cluster coding. The chapter on mental disorders has also changed. ICD-11 has been updated to take into account the results of international expert cooperation and new information on mental disorders. Many of the secondary clinical categories have been moved higher in the hierarchy that created new subchapters. Many categories have been moved to other subchapters. Taking into account the modern epidemiology and knowledge about the etiology of mental disorders, some categories have been removed from ICD. Moreover, several nonexistent categories have been added. The article summarizes and discusses the most important changes in ICD with the introduction of ICD-11, both in the coding system and in individual subchapters covering mental health issues.


Asunto(s)
Clasificación Internacional de Enfermedades/normas , Trastornos Mentales/clasificación , Trastornos Mentales/diagnóstico , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Humanos , Polonia , Terminología como Asunto , Organización Mundial de la Salud
16.
Ann Nucl Med ; 34(2): 87-93, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31848928

RESUMEN

Cardiac sarcoidosis is a granulomatous disease that may affect any organ, including the heart. Diagnosis of cardiac sarcoidosis is challenging, given the varied and non-specific clinical presentation and limited sensitivity and specificity of available diagnostic tests. With the growing interest and developments in imaging techniques, cardiac magnetic resonance imaging (CMR) and positron emission tomography (PET) have emerged as important tools in the diagnostic evaluation of patients with suspected cardiac sarcoidosis. These modalities have been given increasing emphasis in successive published diagnostic guidelines for CS. This review will provide an update on the recent paradigm shift in diagnostic guidelines for cardiac sarcoidosis, with a focus on the advanced cardiac imaging modalities and their developed role in clinical practice.


Asunto(s)
Cardiomiopatías/diagnóstico por imagen , Sarcoidosis/diagnóstico por imagen , Guías como Asunto , Corazón , Humanos , Imagen por Resonancia Magnética/métodos , Imagen Multimodal/métodos , Tomografía de Emisión de Positrones/métodos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodos
17.
Dig Liver Dis ; 51(11): 1547-1550, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31383458

RESUMEN

BACKGROUND: Despite a well-established diagnostic algorithm for celiac disease, it remains unclear whether prescriptions for celiac serological tests comply with the current pediatric guidelines. AIM: To analyze the appropriateness of test prescription in children investigated for celiac disease in Italy, compared to the current European pediatric guidelines. METHODS: All children who had performed a first evaluation for celiac disease were prospectively enrolled. Prescribed tests and related indications for testing were recorded, and compared to the European pediatric guidelines. RESULTS: Overall, 202 children were enrolled (females 59%, mean age 7.1 years ±4.1) in two centers. The reasons for celiac disease testing were typical, atypical symptoms or celiac disease-associated conditions in 46.5%, 49%, and 4.5% of cases, respectively. First-line tests were IgA and IgG anti-transglutaminase antibodies in 88.1% and 29.7% of children, IgA and IgG anti-deamidated gliadin peptide antibodies in 43% and 47%, IgA and IgG anti native gliadin in 15.8%, IgA anti-endomysium antibodies in 44.5%, HLA predisposing genes in 10% of patients. Test redundancy was very common, and the current diagnostic guidelines were correctly followed only in 23/202 patients (11.4%). CONCLUSIONS: Diagnostic European guidelines for celiac disease screening are often disregarded in Italy. Intervention to implement adherence to these guidelines is needed, with the aim of improving resource utilization, and quality of patient care.


Asunto(s)
Autoanticuerpos/sangre , Enfermedad Celíaca/diagnóstico , Adhesión a Directriz/estadística & datos numéricos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Pruebas Serológicas/estadística & datos numéricos , Adolescente , Enfermedad Celíaca/sangre , Enfermedad Celíaca/inmunología , Niño , Preescolar , Reacciones Falso Negativas , Reacciones Falso Positivas , Femenino , Gliadina/inmunología , Humanos , Lactante , Italia , Masculino , Guías de Práctica Clínica como Asunto , Valor Predictivo de las Pruebas , Estudios Prospectivos , Transglutaminasas/inmunología
18.
Histopathology ; 75(6): 787-796, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31166611

RESUMEN

AIMS: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is an uncommon complication associated largely with textured implants. It is important that the symptoms associated with BIA-ALCL are recognised and that robust pathways are in place to establish the diagnosis. The aim of this paper is to review what is known of the incidence of the disease, current thoughts on pathogenesis, patterns of presentation and pathological features to provide standard guidelines for its diagnosis. METHODS AND RESULTS: Systematic review of the literature via PubMed covering cases series, modes of presentation, cytological, histological and immunohistochemical features and disease outcome. Since 1997, 518 cases throughout 25 countries have been registered on the American Society of Plastic Surgeons PROFILE registry, with an estimated risk for women with an implant of one to three per million per year. It most frequently presents as a late-onset accumulation of seroma fluid, sometimes as a mass lesion. The neoplastic cells are highly atypical, consistently strongly positive for CD30, with 43-90% also positive for EMA, and all are ALK-negative. Behaviour is best predicted using a staging system for solid tumours. CONCLUSION: BIA-ALCL is a rare but important complication of breast implants. While characterised by CD30-positive neoplastic cells this must be interpreted with care, and we provide pathological guidelines for the robust diagnosis of this lesion as well as the most appropriate staging system and management strategies. Finally, in order to generate more accurate data on incidence, we recommend mechanisms for the routine central reporting of all cases.


Asunto(s)
Implantes de Mama/efectos adversos , Neoplasias de la Mama/patología , Linfoma Anaplásico de Células Grandes/patología , Guías de Práctica Clínica como Asunto , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/etiología , Femenino , Humanos , Antígeno Ki-1/análisis , Linfoma Anaplásico de Células Grandes/diagnóstico , Linfoma Anaplásico de Células Grandes/etiología
19.
Genet Med ; 21(4): 772-789, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30659246

RESUMEN

PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), ß (PHKB), É£ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed. CONCLUSION: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.


Asunto(s)
Genómica , Enfermedad del Almacenamiento de Glucógeno/genética , Hipoglucemia/genética , Fosforilasa Quinasa/genética , Manejo de la Enfermedad , Genética Médica/tendencias , Glucógeno/genética , Glucógeno/metabolismo , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Enfermedad del Almacenamiento de Glucógeno/epidemiología , Enfermedad del Almacenamiento de Glucógeno/terapia , Guías como Asunto , Humanos , Hipoglucemia/metabolismo , Hipoglucemia/terapia , Hígado/metabolismo , Hígado/patología , Mutación , Fosforilasa Quinasa/química , Estados Unidos/epidemiología
20.
Int J Clin Health Psychol ; 19(1): 1-11, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30619492

RESUMEN

Background/Objective: The World Health Organization's diagnostic guidelines for ICD-11 mental and behavioural disorders must be tested in clinical settings around the world to ensure that they are clinically useful and genuinely global. The objective is evaluate the inter-rater reliability and clinical utility of ICD-11 guidelines for psychotic, mood, anxiety- and stress-related disorders in Mexican patients. Method: Adult volunteers exhibiting the selected symptoms were referred from the pre-consultation unit of a public psychiatric hospital to an interview by a pair of clinicians, who subsequently assigned independent diagnoses and evaluated the clinical utility of the diagnostic guidelines as applied to each particular case, on the basis of a scale developed for this purpose. Results: 23 clinicians evaluated 153 patients. Kappa scores were strong for psychotic disorders (.83), moderate for stress-related (.77) and mood disorders (.60) and week for anxiety and fear-related disorders (.43). A high proportion of clinicians considered all diagnostic guidelines to be quite to extremely useful as applied to their patients. Conclusions: ICD-11 guidelines for psychotic, stress-related and mood disorders allow adequate inter-rater consistency among Mexican clinicians, who also considered them as clinical useful tools.


Antecedentes/Objetivo: Las guías diagnósticas CIE-11 para trastornos mentales y del comportamiento de la Organización Mundial de la Salud deben ser evaluadas en pacientes reales alrededor del mundo a fin de asegurar que son clínicamente útiles y genuinamente globales. Se evalúa la consistencia inter-evaluadores y la utilidad clínica de las guías para los trastornos psicóticos, afectivos, de ansiedad y relacionados con el estrés en pacientes mexicanos. Método: Voluntarios con síntomas psicóticos, afectivos, de ansiedad o relacionados con el estrés derivados de una unidad de pre-consulta de un hospital psiquiátrico, para una entrevista con una pareja de clínicos, quienes posteriormente asignaron diagnósticos de manera independiente y evaluaron la utilidad clínica de las guías aplicadas a cada caso en particular, con base en una escala desarrollada para este propósito. Resultados: 23 clínicos evaluaron 153 pacientes. Los coeficientes Kappa fueron fuertes para trastornos psicóticos (0,83), moderados para los relacionados con el estrés (0,77) y afectivos (0,60), y débiles para los de ansiedad y relacionados con el miedo (0,43). Una alta proporción de clínicos consideró que las guías eran bastante o extremadamente útiles. Conclusiones: Las guías CIE-11 para dichos trastornos permiten una adecuada consistencia inter-evaluadores en clínicos mexicanos, quienes les consideran herramientas clínicamente útiles.

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